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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


516 records found for search term Ano10
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401962634CV2845280single nucleotide variantNM_018075.5(ANO10):c.*10G>Anot provided [RCV003482741]uncertain significance34336689643366896Humanname
11598552CV290343single nucleotide variantNM_018075.5(ANO10):c.-67C>TAutosomal recessive spinocerebellar ataxia 10 [RCV000407123]uncertain significance34362196443621964Human1name
11654079CV290351deletionNM_018075.5(ANO10):c.-95delAutosomal recessive cerebellar ataxia [RCV000314701]uncertain significance34362199243621992Human1name
11590175CV291181single nucleotide variantNM_018075.5(ANO10):c.*82G>AAutosomal recessive spinocerebellar ataxia 10 [RCV000316574]uncertain significance34336682443366824Human1name
11584745CV291241single nucleotide variantNM_018075.5(ANO10):c.-90C>TAutosomal recessive spinocerebellar ataxia 10 [RCV000276026]benign|likely benign34362198743621987Human1name
11651179CV294492single nucleotide variantNM_018075.5(ANO10):c.-74C>TAutosomal recessive spinocerebellar ataxia 10 [RCV000297301]uncertain significance34362197143621971Human1name
11585650CV294850single nucleotide variantNM_018075.5(ANO10):c.*91G>AAutosomal recessive spinocerebellar ataxia 10 [RCV000282612]uncertain significance34336681543366815Human1name
11635634CV294852duplicationNM_018075.5(ANO10):c.*74dupAutosomal recessive cerebellar ataxia [RCV000373655]uncertain significance34336683143366832Human1name
11592259CV294937single nucleotide variantNM_018075.5(ANO10):c.-31G>CAutosomal recessive spinocerebellar ataxia 10 [RCV000337152]uncertain significance34362192843621928Human1name
11593998CV294940single nucleotide variantNM_018075.5(ANO10):c.-83T>CAutosomal recessive spinocerebellar ataxia 10 [RCV000354540]uncertain significance34362198043621980Human1name
11598146CV290298single nucleotide variantNM_018075.5(ANO10):c.*447G>AAutosomal recessive spinocerebellar ataxia 10 [RCV000401922]|not provided [RCV003437096]benign|uncertain significance34336645943366459Human1name
11589416CV290299single nucleotide variantNM_018075.5(ANO10):c.*444C>TAutosomal recessive spinocerebellar ataxia 10 [RCV000310538]benign|likely benign34336646243366462Human1name
11660466CV290367single nucleotide variantNM_018075.5(ANO10):c.-102C>AAutosomal recessive spinocerebellar ataxia 10 [RCV000367158]uncertain significance34362199943621999Human1name
11594782CV291143single nucleotide variantNM_018075.5(ANO10):c.*438A>TAutosomal recessive spinocerebellar ataxia 10 [RCV000362937]uncertain significance34336646843366468Human1name
11590865CV291144single nucleotide variantNM_018075.5(ANO10):c.*372G>TAutosomal recessive spinocerebellar ataxia 10 [RCV000323362]uncertain significance34336653443366534Human1name
11594656CV291170single nucleotide variantNM_018075.5(ANO10):c.*368C>TAutosomal recessive spinocerebellar ataxia 10 [RCV000361708]uncertain significance34336653843366538Human1name
11595819CV291180single nucleotide variantNM_018075.5(ANO10):c.*179C>TAutosomal recessive spinocerebellar ataxia 10 [RCV000374711]|not provided [RCV001843512]likely benign|uncertain significance34336672743366727Human1name
11654142CV294447single nucleotide variantNM_018075.5(ANO10):c.*464C>TAutosomal recessive cerebellar ataxia [RCV000314791]uncertain significance34336644243366442Human1name
11583979CV294449single nucleotide variantNM_018075.5(ANO10):c.*432G>TAutosomal recessive spinocerebellar ataxia 10 [RCV000270689]benign|likely benign34336647443366474Human1name
11583134CV294450single nucleotide variantNM_018075.5(ANO10):c.*246A>GAutosomal recessive spinocerebellar ataxia 10 [RCV000264710]|not provided [RCV001712082]benign|likely benign34336666043366660Human1name
11660607CV294832single nucleotide variantNM_018075.5(ANO10):c.*452A>GAutosomal recessive spinocerebellar ataxia 10 [RCV000368706]uncertain significance34336645443366454Human1name
11590758CV294833single nucleotide variantNM_018075.5(ANO10):c.*196C>AAutosomal recessive spinocerebellar ataxia 10 [RCV000322360]|not provided [RCV001672630]benign|likely benign34336671043366710Human1name
11647177CV294944single nucleotide variantNM_018075.4(ANO10):c.-140G>AAutosomal recessive cerebellar ataxia [RCV000274894]uncertain significance34362203743622037Human1name
28869561CV888890single nucleotide variantNM_018075.5(ANO10):c.*569T>CAutosomal recessive spinocerebellar ataxia 10 [RCV001144972]uncertain significance34336633743366337Human1name
28869563CV888891single nucleotide variantNM_018075.5(ANO10):c.*418T>CAutosomal recessive spinocerebellar ataxia 10 [RCV001144973]uncertain significance34336648843366488Human1name
28873816CV888892single nucleotide variantNM_018075.5(ANO10):c.*237G>CAutosomal recessive spinocerebellar ataxia 10 [RCV001146930]uncertain significance34336666943366669Human1name
28873819CV888893single nucleotide variantNM_018075.5(ANO10):c.*165G>AAutosomal recessive spinocerebellar ataxia 10 [RCV001146931]|not provided [RCV004694913]uncertain significance34336674143366741Human1name
28873821CV888894single nucleotide variantNM_018075.5(ANO10):c.*164C>TAutosomal recessive spinocerebellar ataxia 10 [RCV001146932]uncertain significance34336674243366742Human1name
28870020CV888929single nucleotide variantNM_018075.5(ANO10):c.-104C>TAutosomal recessive spinocerebellar ataxia 10 [RCV001145183]uncertain significance34362200143622001Human1name
150548164CV1314186single nucleotide variantNM_018075.5(ANO10):c.473-2A>Tnot provided [RCV002473296]likely pathogenic34358047443580474Humanname
150548165CV1314187single nucleotide variantNM_018075.5(ANO10):c.139+1G>TAutosomal recessive spinocerebellar ataxia 10 [RCV001785940]|not provided [RCV003772145]likely pathogenic34360571343605713Human1name
10408385CV207077single nucleotide variantNM_018075.5(ANO10):c.337+1G>AAutosomal recessive spinocerebellar ataxia 10 [RCV000193666]|not provided [RCV003221843]pathogenic|likely pathogenic34360038343600383Human1name
401726486CV2736130single nucleotide variantNM_018075.5(ANO10):c.472+1G>Tnot provided [RCV003312577]pathogenic|likely pathogenic34359853143598531Humanname
405210409CV2867714single nucleotide variantNM_018075.5(ANO10):c.338-9T>Anot provided [RCV003552493]likely benign34359867543598675Humanname
402475174CV2916072single nucleotide variantNM_018075.5(ANO10):c.593-9C>Anot provided [RCV003571305]likely benign34357727043577270Humanname
402496785CV2942797single nucleotide variantNM_018075.5(ANO10):c.473-8C>Tnot provided [RCV003661147]likely benign34358048043580480Humanname
405071207CV2944249single nucleotide variantNM_018075.5(ANO10):c.473-4G>Tnot provided [RCV003659433]likely benign34358047643580476Humanname
405193833CV2975153single nucleotide variantNM_018075.5(ANO10):c.593-7A>Gnot provided [RCV003677454]likely benign34357726843577268Humanname
404983092CV2979408single nucleotide variantNM_018075.5(ANO10):c.140-1G>Anot provided [RCV003691457]likely pathogenic34360058243600582Humanname
405116662CV3020205single nucleotide variantNM_018075.5(ANO10):c.338-5T>Cnot provided [RCV003700313]likely benign34359867143598671Humanname
405122047CV3024705single nucleotide variantNM_018075.5(ANO10):c.338-7A>Gnot provided [RCV003700861]likely benign34359867343598673Humanname
405168381CV3122318single nucleotide variantNM_018075.5(ANO10):c.473-7T>Cnot provided [RCV003818907]likely benign34358047943580479Humanname
405160591CV3125050single nucleotide variantNM_018075.5(ANO10):c.473-1G>AAutosomal recessive spinocerebellar ataxia 10 [RCV005038526]|not provided [RCV003818321]likely pathogenic34358047343580473Human1name
405217466CV3160976single nucleotide variantNM_018075.5(ANO10):c.338-6T>Anot provided [RCV003863038]likely benign34359867243598672Humanname
12894053CV406307single nucleotide variantNM_018075.5(ANO10):c.338-2A>GAutosomal recessive spinocerebellar ataxia 10 [RCV005415571]|not provided [RCV000481306]pathogenic|likely pathogenic|uncertain significance34359866843598668Human1name
13470950CV440793single nucleotide variantNM_018075.5(ANO10):c.473-2A>GAutosomal recessive spinocerebellar ataxia 10 [RCV005034061]|not provided [RCV000518187]pathogenic|likely pathogenic34358047443580474Human1name
28876102CV891643single nucleotide variantNM_018075.5(ANO10):c.592+3A>GAutosomal recessive spinocerebellar ataxia 10 [RCV001147924]uncertain significance34358035043580350Human1name
28880924CV891644single nucleotide variantNM_018075.5(ANO10):c.473-6G>AANO10-related disorder [RCV003973107]|Autosomal recessive spinocerebellar ataxia 10 [RCV001149461]|not provided [RCV003546656]likely benign|uncertain significance34358047843580478Human1name , trait , alternate_id
150529500CV1052848single nucleotide variantNM_018075.5(ANO10):c.1163-9A>GAutosomal recessive spinocerebellar ataxia 10 [RCV001726493]|not provided [RCV005250185]pathogenic|likely pathogenic34357487343574873Human1name
150418716CV1197092single nucleotide variantNM_018075.5(ANO10):c.1219-5G>Tnot provided [RCV001576860]likely benign34356573243565732Humanname
150515175CV1228755single nucleotide variantNM_018075.5(ANO10):c.140-53G>Tnot provided [RCV001638744]benign34360063443600634Humanname
150446194CV1278278deletionNM_018075.5(ANO10):c.1219-6delnot provided [RCV001707421]benign34356573343565733Humanname
150515235CV1285473single nucleotide variantNM_018075.5(ANO10):c.140-83G>Anot provided [RCV001722926]benign34360066443600664Humanname
152102624CV1667295single nucleotide variantNM_018075.5(ANO10):c.1219-1G>TAutosomal recessive spinocerebellar ataxia 10 [RCV002466744]|not provided [RCV002214282]pathogenic34356572843565728Human1name
155795681CV1861442single nucleotide variantNM_018075.5(ANO10):c.1218+5G>Anot provided [RCV002469724]likely pathogenic34357480443574804Humanname
10406529CV207076single nucleotide variantNM_018075.5(ANO10):c.1669-2A>TAutosomal recessive spinocerebellar ataxia 10 [RCV000193009]pathogenic34354985043549850Human1name
11551279CV251139single nucleotide variantNM_018075.5(ANO10):c.1293+9A>GAutosomal recessive spinocerebellar ataxia 10 [RCV000601670]|not provided [RCV000991520]|not specified [RCV000252832]benign34356564443565644Human1name
402510809CV2858799single nucleotide variantNM_018075.5(ANO10):c.1294-8C>Tnot provided [RCV003547006]likely benign34356141043561410Humanname
402487339CV2861720single nucleotide variantNM_018075.5(ANO10):c.1669-2A>Gnot provided [RCV003544608]likely pathogenic34354985043549850Humanname
405018150CV2865994single nucleotide variantNM_018075.5(ANO10):c.1915-7T>Gnot provided [RCV003577351]likely benign34336698143366981Humanname
405064681CV2878986deletionNM_018075.5(ANO10):c.1798-4delnot provided [RCV003548153]benign34343273143432731Humanname
405196573CV2879340single nucleotide variantNM_018075.5(ANO10):c.139+18T>Cnot provided [RCV003550900]likely benign34360569643605696Humanname
11593256CV290309single nucleotide variantNM_018075.5(ANO10):c.1669-8T>GAutosomal recessive spinocerebellar ataxia 10 [RCV000346987]|not provided [RCV000893276]|not specified [RCV001287978]benign|likely benign|uncertain significance34354985643549856Human1name
11635225CV290322deletionNM_018075.5(ANO10):c.1294-3delAutosomal recessive cerebellar ataxia [RCV000318704]|not provided [RCV000927239]likely benign|uncertain significance34356140543561405Human1name
11592846CV291194single nucleotide variantNM_018075.5(ANO10):c.338-11T>CAutosomal recessive spinocerebellar ataxia 10 [RCV000342889]|not provided [RCV003765994]likely benign|uncertain significance34359867743598677Human1name
402484792CV2922345single nucleotide variantNM_018075.5(ANO10):c.1162+7C>Gnot provided [RCV003572386]likely benign34357668543576685Humanname
11644409CV294868single nucleotide variantNM_018075.5(ANO10):c.1218+4A>TAutosomal recessive spinocerebellar ataxia 10 [RCV000259800]uncertain significance34357480543574805Human1name
405160964CV2951298single nucleotide variantNM_018075.5(ANO10):c.338-12G>Cnot provided [RCV003670726]likely benign34359867843598678Humanname
405121057CV2953932single nucleotide variantNM_018075.5(ANO10):c.1218+1G>Cnot provided [RCV003667452]pathogenic|likely pathogenic34357480843574808Humanname
405158255CV2960919single nucleotide variantNM_018075.5(ANO10):c.139+17C>Gnot provided [RCV003670444]likely benign34360569743605697Humanname
405218039CV2972184single nucleotide variantNM_018075.5(ANO10):c.139+11T>Cnot provided [RCV003680143]likely benign34360570343605703Humanname
404984570CV2983134single nucleotide variantNM_018075.5(ANO10):c.472+17A>Gnot provided [RCV003691674]likely benign34359851543598515Humanname
404995991CV2992480duplicationNM_018075.5(ANO10):c.1163-9dupnot provided [RCV003692712]likely benign34357487243574873Humanname
402481581CV3001093single nucleotide variantNM_018075.5(ANO10):c.592+13A>Gnot provided [RCV003686617]likely benign34358034043580340Humanname
405248402CV3003652single nucleotide variantNM_018075.5(ANO10):c.593-13G>Anot provided [RCV003721110]likely benign34357727443577274Humanname
405122896CV3004044single nucleotide variantNM_018075.5(ANO10):c.338-10T>Cnot provided [RCV003723930]likely benign34359867643598676Humanname
405033589CV3009372single nucleotide variantNM_018075.5(ANO10):c.337+15C>Gnot provided [RCV003695756]likely benign34360036943600369Humanname
402525312CV3011483single nucleotide variantNM_018075.5(ANO10):c.140-10G>Cnot provided [RCV003716619]likely benign34360059143600591Humanname
405241658CV3014534single nucleotide variantNM_018075.5(ANO10):c.472+19C>Tnot provided [RCV003719330]likely benign34359851343598513Humanname
405121830CV3024665single nucleotide variantNM_018075.5(ANO10):c.1914+9A>Gnot provided [RCV003700839]likely benign34343260243432602Humanname
405221988CV3038674single nucleotide variantNM_018075.5(ANO10):c.140-20C>Tnot provided [RCV003710110]likely benign34360060143600601Humanname
405007102CV3117574single nucleotide variantNM_018075.5(ANO10):c.472+11A>Gnot provided [RCV003828629]likely benign34359852143598521Humanname
405177784CV3123476single nucleotide variantNM_018075.5(ANO10):c.1163-4T>Gnot provided [RCV003819685]likely benign34357486843574868Humanname
405026746CV3129709single nucleotide variantNM_018075.5(ANO10):c.140-16T>Cnot provided [RCV003830307]likely benign34360059743600597Humanname
404992080CV3132339single nucleotide variantNM_018075.5(ANO10):c.472+19C>Gnot provided [RCV003827277]likely benign34359851343598513Humanname
404987100CV3135517single nucleotide variantNM_018075.5(ANO10):c.338-14C>Anot provided [RCV003826812]likely benign34359868043598680Humanname
405226128CV3142475single nucleotide variantNM_018075.5(ANO10):c.1162+7C>Tnot provided [RCV003848014]likely benign34357668543576685Humanname
405158742CV3152654single nucleotide variantNM_018075.5(ANO10):c.1476+9G>Cnot provided [RCV003840581]likely benign34356121143561211Humanname
405234852CV3168518deletionNM_018075.5(ANO10):c.592+10delnot provided [RCV003865992]likely benign34358034343580343Humanname
405211654CV3173496single nucleotide variantNM_018075.5(ANO10):c.1162+1G>AAutosomal recessive spinocerebellar ataxia 10 [RCV004587575]|not provided [RCV003862245]likely pathogenic34357669143576691Human1name
402517363CV3178936single nucleotide variantNM_018075.5(ANO10):c.1163-7G>Anot provided [RCV003879369]likely benign34357487143574871Humanname
596942256CV3544035single nucleotide variantNM_018075.5(ANO10):c.1293+1G>TAutosomal recessive spinocerebellar ataxia 10 [RCV004800025]likely pathogenic34356565243565652Human1name
597958460CV3814871single nucleotide variantNM_018075.5(ANO10):c.1476+9G>Anot provided [RCV005162996]likely benign34356121143561211Humanname
597865037CV3823258single nucleotide variantNM_018075.5(ANO10):c.473-20G>Cnot provided [RCV005175608]likely benign34358049243580492Humanname
8568760CV40016single nucleotide variantNM_018075.5(ANO10):c.1476+1G>TAutosomal recessive spinocerebellar ataxia 10 [RCV000024053]pathogenic|likely pathogenic34356121943561219Human1name
13808120CV576733single nucleotide variantNM_018075.5(ANO10):c.1797+1G>AAutosomal recessive spinocerebellar ataxia 10 [RCV005034333]|not provided [RCV000710541]likely pathogenic34354971943549719Human1name
28875830CV891642single nucleotide variantNM_018075.5(ANO10):c.1914+3G>AAutosomal recessive spinocerebellar ataxia 10 [RCV001147836]|not provided [RCV002557166]|not specified [RCV001664706]benign|likely benign|uncertain significance34343260843432608Human1name
150334629CV1171121single nucleotide variantNM_018075.5(ANO10):c.592+264T>Cnot provided [RCV001540149]benign34358008943580089Humanname
150409640CV1195943duplicationNM_018075.5(ANO10):c.1219-23dupnot provided [RCV001572746]|not specified [RCV001727876]benign|likely benign34356573243565733Humanname
150497567CV1219427deletionNM_018075.5(ANO10):c.592+210delnot provided [RCV001620096]benign34358014343580143Humanname
150472379CV1236330single nucleotide variantNM_018075.5(ANO10):c.1797+78G>Tnot provided [RCV001651415]benign34354964243549642Humanname
150431879CV1236574single nucleotide variantNM_018075.5(ANO10):c.593-228C>Gnot provided [RCV001641978]benign34357748943577489Humanname
150455753CV1236786single nucleotide variantNM_018075.5(ANO10):c.1915-79A>Cnot provided [RCV001648522]benign34336705343367053Humanname
150490333CV1239096duplicationNM_018075.5(ANO10):c.592+193dupnot provided [RCV001654664]benign34358014243580143Humanname
150481468CV1243316single nucleotide variantNM_018075.5(ANO10):c.-11-273A>Gnot provided [RCV001652952]benign34360613643606136Humanname
150483498CV1245121single nucleotide variantNM_018075.5(ANO10):c.-11-123G>Anot provided [RCV001653298]benign34360598643605986Humanname
150441409CV1246729single nucleotide variantNM_018075.5(ANO10):c.593-227A>Cnot provided [RCV001666383]benign34357748843577488Humanname
150470166CV1247942single nucleotide variantNM_018075.5(ANO10):c.1219-96C>Tnot provided [RCV001670978]benign34356582343565823Humanname
150481314CV1258896single nucleotide variantNM_018075.5(ANO10):c.1669-65A>Gnot provided [RCV001686026]benign34354991343549913Humanname
150441221CV1265749single nucleotide variantNM_018075.5(ANO10):c.592+310C>Gnot provided [RCV001690474]benign34358004343580043Humanname
150444143CV1266488single nucleotide variantNM_018075.5(ANO10):c.1477-37T>Gnot provided [RCV001690924]benign34355550643555506Humanname
150461235CV1270622single nucleotide variantNM_018075.5(ANO10):c.338-323T>Gnot provided [RCV001693612]benign34359898943598989Humanname
150481210CV1279692single nucleotide variantNM_018075.5(ANO10):c.-11-218T>Cnot provided [RCV001714801]benign34360608143606081Humanname
150473868CV1281622deletionNM_018075.5(ANO10):c.592+330delnot provided [RCV001713600]benign34358002343580023Humanname
150499364CV1282688single nucleotide variantNM_018075.5(ANO10):c.1797+70C>Tnot provided [RCV001718178]benign34354965043549650Humanname
150503934CV1285856single nucleotide variantNM_018075.5(ANO10):c.593-123G>Anot provided [RCV001719279]benign34357738443577384Humanname
150535794CV1312038single nucleotide variantNM_018075.5(ANO10):c.1293+26C>Tnot provided [RCV001779849]likely benign34356562743565627Humanname
402523431CV2867661single nucleotide variantNM_018075.5(ANO10):c.1798-16T>Cnot provided [RCV003547912]likely benign34343274343432743Humanname
402493801CV2887184single nucleotide variantNM_018075.5(ANO10):c.1915-15G>Anot provided [RCV003573284]likely benign34336698943366989Humanname
11597327CV290317single nucleotide variantNM_018075.5(ANO10):c.1477-14G>AAutosomal recessive spinocerebellar ataxia 10 [RCV000392738]|not provided [RCV001643045]benign|likely benign34355548343555483Human1name
405168410CV2911634single nucleotide variantNM_018075.5(ANO10):c.1798-16T>Gnot provided [RCV003562926]likely benign34343274343432743Humanname
405009649CV2923223single nucleotide variantNM_018075.5(ANO10):c.1163-12T>Cnot provided [RCV003576622]likely benign34357487643574876Humanname
402507022CV2924173single nucleotide variantNM_018075.5(ANO10):c.1797+11A>Gnot provided [RCV003574560]likely benign34354970943549709Humanname
405190414CV2924744single nucleotide variantNM_018075.5(ANO10):c.1476+11A>Gnot provided [RCV003564852]likely benign34356120943561209Humanname
405057052CV2932160single nucleotide variantNM_018075.5(ANO10):c.1797+14T>Gnot provided [RCV003580199]likely benign34354970643549706Humanname
402482792CV2940867single nucleotide variantNM_018075.5(ANO10):c.1218+10G>Anot provided [RCV003659744]likely benign34357479943574799Humanname
405177747CV2952122single nucleotide variantNM_018075.5(ANO10):c.1797+19T>Gnot provided [RCV003675982]likely benign34354970143549701Humanname
405119280CV2957498single nucleotide variantNM_018075.5(ANO10):c.1798-19T>Anot provided [RCV003667267]likely benign34343274643432746Humanname
405156776CV2960916single nucleotide variantNM_018075.5(ANO10):c.1162+13G>Anot provided [RCV003670441]likely benign34357667943576679Humanname
405211044CV2966896single nucleotide variantNM_018075.5(ANO10):c.1294-14G>Anot provided [RCV003679398]likely benign34356141643561416Humanname
405214393CV2971486single nucleotide variantNM_018075.5(ANO10):c.1163-15G>Cnot provided [RCV003679828]likely benign34357487943574879Humanname
402493285CV2981268single nucleotide variantNM_018075.5(ANO10):c.1477-17C>Tnot provided [RCV003713918]likely benign34355548643555486Humanname
402490130CV2995681single nucleotide variantNM_018075.5(ANO10):c.1477-10A>Gnot provided [RCV003687362]likely benign34355547943555479Humanname
405249827CV3000911single nucleotide variantNM_018075.5(ANO10):c.1218+14T>Gnot provided [RCV003721449]likely benign34357479543574795Humanname
405056231CV3023225single nucleotide variantNM_018075.5(ANO10):c.1294-16G>Cnot provided [RCV003697290]likely benign34356141843561418Humanname
405027400CV3076071single nucleotide variantNM_018075.5(ANO10):c.1476+10A>Gnot provided [RCV003738886]likely benign34356121043561210Humanname
405116964CV3115921single nucleotide variantNM_018075.5(ANO10):c.1798-17C>Tnot provided [RCV003814411]likely benign34343274443432744Humanname
405213457CV3127637deletionNM_018075.5(ANO10):c.1668+20delnot provided [RCV003823685]benign34355525843555258Humanname
405019671CV3129153single nucleotide variantNM_018075.5(ANO10):c.1162+12G>Anot provided [RCV003829716]benign34357668043576680Humanname
405197835CV3132094single nucleotide variantNM_018075.5(ANO10):c.1163-13T>Cnot provided [RCV003821687]likely benign34357487743574877Humanname
404991856CV3132318single nucleotide variantNM_018075.5(ANO10):c.1668+11G>Anot provided [RCV003827256]likely benign34355526743555267Humanname
405035754CV3140502single nucleotide variantNM_018075.5(ANO10):c.1218+12G>Anot provided [RCV003830984]likely benign34357479743574797Humanname
405075789CV3140755single nucleotide variantNM_018075.5(ANO10):c.1476+18T>Anot provided [RCV003833718]likely benign34356120243561202Humanname
405038590CV3140922single nucleotide variantNM_018075.5(ANO10):c.1294-12G>Anot provided [RCV003831215]likely benign34356141443561414Humanname
405144461CV3141429single nucleotide variantNM_018075.5(ANO10):c.1477-19T>Anot provided [RCV003839545]likely benign34355548843555488Humanname
405195536CV3146415single nucleotide variantNM_018075.5(ANO10):c.1218+18G>Anot provided [RCV003843770]likely benign34357479143574791Humanname
405171263CV3151692single nucleotide variantNM_018075.5(ANO10):c.1476+17C>Anot provided [RCV003857843]likely benign34356120343561203Humanname
405230359CV3153866single nucleotide variantNM_018075.5(ANO10):c.1218+11C>Tnot provided [RCV003848734]likely benign34357479843574798Humanname
405145162CV3155851single nucleotide variantNM_018075.5(ANO10):c.1915-10C>Gnot provided [RCV003855893]likely benign34336698443366984Humanname
405183525CV3159743single nucleotide variantNM_018075.5(ANO10):c.1797+16A>Cnot provided [RCV003858994]likely benign34354970443549704Humanname
405149438CV3162786single nucleotide variantNM_018075.5(ANO10):c.1218+19T>Gnot provided [RCV003856229]likely benign34357479043574790Humanname
405237878CV3166970single nucleotide variantNM_018075.5(ANO10):c.1798-12T>Gnot provided [RCV003854225]likely benign34343273943432739Humanname
402494257CV3182941single nucleotide variantNM_018075.5(ANO10):c.1477-20A>Cnot provided [RCV003877249]likely benign34355548943555489Humanname
597866383CV3742452single nucleotide variantNM_018075.5(ANO10):c.1915-20G>Anot provided [RCV005068068]likely benign34336699443366994Humanname
597877089CV3776097single nucleotide variantNM_018075.5(ANO10):c.1914+18G>Tnot provided [RCV005123625]likely benign34343259343432593Humanname
597850877CV3824637single nucleotide variantNM_018075.5(ANO10):c.1294-16G>Anot provided [RCV005173676]likely benign34356141843561418Humanname
597894351CV3833538single nucleotide variantNM_018075.5(ANO10):c.1798-12T>Cnot provided [RCV005180230]likely benign34343273943432739Humanname
150464599CV1215286single nucleotide variantNM_018075.5(ANO10):c.1476+129C>Tnot provided [RCV001613985]benign34356109143561091Humanname
150433604CV1216965single nucleotide variantNM_018075.5(ANO10):c.1797+238A>Gnot provided [RCV001608867]benign34354948243549482Humanname
150517444CV1226894single nucleotide variantNM_018075.5(ANO10):c.1219-231T>Cnot provided [RCV001639989]benign34356595843565958Humanname
150502300CV1254485single nucleotide variantNM_018075.5(ANO10):c.1914+237T>Cnot provided [RCV001677187]benign34343237443432374Humanname
150494316CV1256442single nucleotide variantNM_018075.5(ANO10):c.1915-270G>Anot provided [RCV001675407]benign34336724443367244Humanname
150441233CV1265525single nucleotide variantNM_018075.5(ANO10):c.1293+283A>Gnot provided [RCV001679228]benign34356537043565370Humanname
150479134CV1273415single nucleotide variantNM_018075.5(ANO10):c.1293+282T>Gnot provided [RCV001696619]benign34356537143565371Humanname
150476505CV1279268single nucleotide variantNM_018075.5(ANO10):c.1219-277T>Cnot provided [RCV001713992]benign34356600443566004Humanname
150499646CV1282874single nucleotide variantNM_018075.5(ANO10):c.1914+189T>Gnot provided [RCV001718227]benign34343242243432422Humanname
151863865CV1336736single nucleotide variantNM_018075.5(ANO10):c.1293+182A>Tnot provided [RCV002034787]benign34356547143565471Humanname
405112891CV2939063microsatelliteNM_018075.5(ANO10):c.1914+4AG[3]not provided [RCV003666545]likely benign34343260343432604Humanname
150407817CV1182367single nucleotide variantNM_018075.5(ANO10):c.1915-5852T>CAutosomal recessive spinocerebellar ataxia 10 [RCV001554158]|not provided [RCV001638164]benign34337282643372826Human1name
150476448CV1271337single nucleotide variantNM_018075.5(ANO10):c.1669-1566A>Gnot provided [RCV001696160]benign34355141443551414Humanname
401962677CV2845299single nucleotide variantNM_018075.5(ANO10):c.1915-5883G>Cnot provided [RCV003482760]uncertain significance34337285743372857Humanname
407459630CV3496849single nucleotide variantNM_018075.5(ANO10):c.1669-1730G>TAutism [RCV004698664]uncertain significance34355157843551578Human2name
12905638CV413628single nucleotide variantNM_018075.5(ANO10):c.1915-5816C>AANO10-related disorder [RCV003942605]|not provided [RCV000487775]|not specified [RCV004999526]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance34337279043372790Human1name , trait , alternate_id
13480275CV440785single nucleotide variantNM_018075.5(ANO10):c.1915-5863G>Anot provided [RCV000517229]benign|likely benign|uncertain significance34337283743372837Humanname
8578665CV113052single nucleotide variantNM_018075.3(ANO10):c.1915-19587G>CLung cancer [RCV000093575]uncertain significance34338656143386561Humanname
8578666CV113053single nucleotide variantNM_018075.3(ANO10):c.1914+21624C>GLung cancer [RCV000093576]uncertain significance34341098743410987Humanname
8578667CV113054single nucleotide variantNM_018075.3(ANO10):c.1798-12024G>ALung cancer [RCV000093577]uncertain significance34344475143444751Humanname
405114871CV3134133microsatelliteNM_018075.5(ANO10):c.592+7_592+8delnot provided [RCV003836735]likely benign34358034543580346Humanname
150432177CV1246202single nucleotide variantNM_018075.5(ANO10):c.5A>T (p.Lys2Ile)not provided [RCV001663615]uncertain significance34360584843605848Humanname
150531261CV1310740duplicationNM_018075.5(ANO10):c.1219-8_1219-6dupnot provided [RCV001776474]likely benign34356573243565733Humanname
150531769CV1311319deletionNM_018075.5(ANO10):c.1219-7_1219-6delnot provided [RCV001777054]likely benign34356573343565734Humanname
155799196CV1862395single nucleotide variantNM_018075.5(ANO10):c.1A>G (p.Met1Val)Autosomal recessive spinocerebellar ataxia 10 [RCV002471801]likely pathogenic34360585243605852Human1name
155801144CV1864063single nucleotide variantNM_018075.5(ANO10):c.45C>T (p.Phe15=)not provided [RCV002474487]conflicting interpretations of pathogenicity|uncertain significance34360580843605808Humanname
402494411CV2874378single nucleotide variantNM_018075.5(ANO10):c.54G>A (p.Leu18=)not provided [RCV003545244]likely benign34360579943605799Humanname
405085200CV3028328deletionNM_018075.5(ANO10):c.12del (p.Leu5fs)not provided [RCV003699350]pathogenic34360584143605841Humanname
405200880CV3041313deletionNM_018075.5(ANO10):c.140-13_140-11delnot provided [RCV003707429]likely benign34360059243600594Humanname
405112460CV3118550deletionNM_018075.5(ANO10):c.338-14_338-13delnot provided [RCV003813778]likely benign34359867943598680Humanname
405127388CV3132886single nucleotide variantNM_018075.5(ANO10):c.99A>G (p.Glu33=)not provided [RCV003838049]likely benign34360575443605754Humanname
405218464CV3143851single nucleotide variantNM_018075.5(ANO10):c.66A>G (p.Glu22=)not provided [RCV003846821]likely benign34360578743605787Humanname
402500299CV3170504microsatelliteNM_018075.5(ANO10):c.593-17_593-14delnot provided [RCV003877877]likely benign34357727543577278Humanname
407476491CV3494909single nucleotide variantNM_018075.5(ANO10):c.1A>T (p.Met1Leu)Autosomal recessive spinocerebellar ataxia 10 [RCV005038775]|not specified [RCV004690810]pathogenic|uncertain significance34360585243605852Human1name
12742850CV359527single nucleotide variantNM_018075.5(ANO10):c.2T>C (p.Met1Thr)Autosomal recessive spinocerebellar ataxia 10 [RCV005033944]|not provided [RCV000414687]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity34360585143605851Human1name
597840737CV3756134single nucleotide variantNM_018075.5(ANO10):c.52T>C (p.Leu18=)not provided [RCV005086406]likely benign34360580143605801Humanname
11598554CV294886single nucleotide variantNM_018075.5(ANO10):c.192A>G (p.Leu64=)Autosomal recessive spinocerebellar ataxia 10 [RCV000407133]|not provided [RCV003765995]likely benign|uncertain significance34360052943600529Human1name
405118319CV2949763single nucleotide variantNM_018075.5(ANO10):c.225C>A (p.Ser75=)not provided [RCV003667165]likely benign34360049643600496Humanname
405239509CV2997062single nucleotide variantNM_018075.5(ANO10):c.234A>G (p.Arg78=)not provided [RCV003718831]likely benign34360048743600487Humanname
404988546CV2998551single nucleotide variantNM_018075.5(ANO10):c.255A>G (p.Ala85=)not provided [RCV003692068]likely benign34360046643600466Humanname
405254971CV3000075deletionNM_018075.5(ANO10):c.31del (p.Ser11fs)not provided [RCV003723251]pathogenic34360582243605822Humanname
404977774CV3015246single nucleotide variantNM_018075.5(ANO10):c.129A>G (p.Lys43=)not provided [RCV003690612]likely benign34360572443605724Humanname
405203449CV3036471deletionNM_018075.5(ANO10):c.38del (p.Ser13fs)not provided [RCV003707698]pathogenic34360581543605815Humanname
405219354CV3063328single nucleotide variantNM_018075.5(ANO10):c.216T>G (p.Val72=)not provided [RCV003733076]likely benign34360050543600505Humanname
405121313CV3116590deletionNM_018075.5(ANO10):c.1668+8_1668+11delnot provided [RCV003814892]likely benign34355526743555270Humanname
405095521CV3119002single nucleotide variantNM_018075.5(ANO10):c.166T>C (p.Leu56=)not provided [RCV003811453]likely benign34360055543600555Humanname
405028781CV3129856single nucleotide variantNM_018075.5(ANO10):c.192A>T (p.Leu64=)not provided [RCV003830454]likely benign34360052943600529Humanname
405125951CV3132663single nucleotide variantNM_018075.5(ANO10):c.249A>G (p.Ala83=)not provided [RCV003837826]likely benign34360047243600472Humanname
405015666CV3139004single nucleotide variantNM_018075.5(ANO10):c.120A>C (p.Ile40=)not provided [RCV003829341]likely benign34360573343605733Humanname
405212715CV3142706single nucleotide variantNM_018075.5(ANO10):c.231T>A (p.Ile77=)not provided [RCV003846063]likely benign34360049043600490Humanname
405194282CV3167564single nucleotide variantNM_018075.5(ANO10):c.204C>T (p.Asn68=)not provided [RCV003859970]likely benign34360051743600517Humanname
405234242CV3168383single nucleotide variantNM_018075.5(ANO10):c.162A>G (p.Pro54=)not provided [RCV003865857]likely benign34360055943600559Humanname
405263449CV3189733single nucleotide variantNM_018075.5(ANO10):c.282T>C (p.Asp94=)ANO10-related disorder [RCV003896782]likely benign34360043943600439Humanname , trait , alternate_id
597965525CV3751168single nucleotide variantNM_018075.5(ANO10):c.177T>C (p.Tyr59=)not provided [RCV005082730]likely benign34360054443600544Humanname
13215433CV428189microsatelliteNM_018075.5(ANO10):c.1798-12_1798-9delnot provided [RCV003718243]|not specified [RCV000502509]likely benign|uncertain significance34343273643432739Humanname
13213505CV428192deletionNM_018075.5(ANO10):c.96del (p.Glu33fs)Autosomal recessive spinocerebellar ataxia 10 [RCV000500094]|not provided [RCV000518658]pathogenic|likely pathogenic34360575743605757Human1name
13476929CV440796single nucleotide variantNM_018075.5(ANO10):c.159A>G (p.Arg53=)not provided [RCV003546568]|not specified [RCV000516238]benign|likely benign34360056243600562Humanname
150488559CV1237499duplicationNM_018075.5(ANO10):c.1219-23_1219-22dupnot provided [RCV001654348]benign34356573243565733Humanname
9686459CV171737duplicationNM_018075.5(ANO10):c.132dup (p.Asp45fs)Abnormal central motor function [RCV001814069]|Autosomal recessive cerebellar ataxia [RCV000825557]|Autosomal recessive spinocerebellar ataxia 10 [RCV000149437]|not provided [RCV000311100]pathogenic|likely pathogenic|not provided34360572043605721Human4name
155801139CV1864058single nucleotide variantNM_018075.5(ANO10):c.86A>G (p.Glu29Gly)Inborn genetic diseases [RCV004064266]|not provided [RCV002474482]uncertain significance34360576743605767Human1name
155801757CV1864068single nucleotide variantNM_018075.5(ANO10):c.946C>T (p.Leu316=)not provided [RCV002475020]conflicting interpretations of pathogenicity|uncertain significance34357690843576908Humanname
401926349CV2827311single nucleotide variantNM_018075.5(ANO10):c.732G>A (p.Val244=)not provided [RCV003437789]likely benign34357712243577122Humanname
401962707CV2845329single nucleotide variantNM_018075.5(ANO10):c.966G>A (p.Val322=)not provided [RCV003482790]uncertain significance34357688843576888Humanname
402487381CV2861730single nucleotide variantNM_018075.5(ANO10):c.687G>A (p.Gly229=)not provided [RCV003544612]likely benign34357716743577167Humanname
405211951CV2868102single nucleotide variantNM_018075.5(ANO10):c.822A>G (p.Thr274=)not provided [RCV003552673]likely benign34357703243577032Humanname
405208955CV2870669single nucleotide variantNM_018075.5(ANO10):c.313A>C (p.Arg105=)not provided [RCV003552318]likely benign34360040843600408Humanname
405066449CV2879235single nucleotide variantNM_018075.5(ANO10):c.699C>T (p.Tyr233=)not provided [RCV003548265]likely benign34357715543577155Humanname
405239065CV2885899deletionNM_018075.5(ANO10):c.243del (p.Ala83fs)not provided [RCV003556970]pathogenic34360047843600478Humanname
405053038CV2893768single nucleotide variantNM_018075.5(ANO10):c.921C>T (p.Ser307=)not provided [RCV003579928]likely benign34357693343576933Humanname
11588420CV290328single nucleotide variantNM_018075.5(ANO10):c.74A>C (p.Gln25Pro)Autosomal recessive spinocerebellar ataxia 10 [RCV000302734]|not provided [RCV000972700]|not specified [RCV001287982]benign|likely benign34360577943605779Human1name
11586114CV291185single nucleotide variantNM_018075.5(ANO10):c.486C>T (p.Leu162=)Autosomal recessive spinocerebellar ataxia 10 [RCV000285562]|not provided [RCV000949685]|not specified [RCV001287980]benign|likely benign34358045943580459Human1name
402504649CV2927586single nucleotide variantNM_018075.5(ANO10):c.702G>A (p.Leu234=)not provided [RCV003574339]likely benign34357715243577152Humanname
402488172CV2941499single nucleotide variantNM_018075.5(ANO10):c.435T>G (p.Gly145=)not provided [RCV003660249]likely benign34359856943598569Humanname
402486579CV2945015single nucleotide variantNM_018075.5(ANO10):c.729C>T (p.Tyr243=)not provided [RCV003660026]likely benign34357712543577125Humanname
11592981CV294877single nucleotide variantNM_018075.5(ANO10):c.627T>C (p.Ala209=)Autosomal recessive spinocerebellar ataxia 10 [RCV000344000]|not provided [RCV000972699]|not specified [RCV000518586]benign|likely benign34357722743577227Human1name
405159320CV2950154single nucleotide variantNM_018075.5(ANO10):c.360A>G (p.Thr120=)not provided [RCV003674569]likely benign34359864443598644Humanname
405149981CV2956935single nucleotide variantNM_018075.5(ANO10):c.753C>T (p.Leu251=)not provided [RCV003669985]likely benign34357710143577101Humanname
405215004CV2967655single nucleotide variantNM_018075.5(ANO10):c.441T>G (p.Pro147=)not provided [RCV003679839]likely benign34359856343598563Humanname
405210106CV2970473single nucleotide variantNM_018075.5(ANO10):c.519G>A (p.Leu173=)not provided [RCV003679252]likely benign34358042643580426Humanname
405217246CV2972161single nucleotide variantNM_018075.5(ANO10):c.513T>C (p.Phe171=)not provided [RCV003680129]likely benign34358043243580432Humanname
405238198CV2986671single nucleotide variantNM_018075.5(ANO10):c.936G>A (p.Leu312=)not provided [RCV003683471]likely benign34357691843576918Humanname
402488623CV2999039single nucleotide variantNM_018075.5(ANO10):c.741C>G (p.Ala247=)not provided [RCV003687102]likely benign34357711343577113Humanname
405025705CV2999859single nucleotide variantNM_018075.5(ANO10):c.969C>T (p.Cys323=)not provided [RCV003695195]likely benign34357688543576885Humanname
402493414CV3008534deletionNM_018075.5(ANO10):c.132del (p.Asp45fs)not provided [RCV003687760]pathogenic34360572143605721Humanname
404979811CV3009722single nucleotide variantNM_018075.5(ANO10):c.643T>C (p.Leu215=)not provided [RCV003691036]likely benign34357721143577211Humanname
405123183CV3020859single nucleotide variantNM_018075.5(ANO10):c.481T>C (p.Leu161=)not provided [RCV003700882]likely benign34358046443580464Humanname
405169911CV3029378single nucleotide variantNM_018075.5(ANO10):c.606C>A (p.Gly202=)not provided [RCV003704600]likely benign34357724843577248Humanname
402481486CV3041625single nucleotide variantNM_018075.5(ANO10):c.873C>G (p.Val291=)not provided [RCV003712901]likely benign34357698143576981Humanname
405224996CV3042051single nucleotide variantNM_018075.5(ANO10):c.600T>C (p.Ile200=)not provided [RCV003710543]likely benign34357725443577254Humanname
405081329CV3046707single nucleotide variantNM_018075.5(ANO10):c.450G>A (p.Lys150=)not provided [RCV003717160]likely benign34359855443598554Humanname
405128187CV3053613single nucleotide variantNM_018075.5(ANO10):c.924C>T (p.Tyr308=)not provided [RCV003724458]likely benign34357693043576930Humanname
405209205CV3061965single nucleotide variantNM_018075.5(ANO10):c.990G>A (p.Leu330=)not provided [RCV003731748]likely benign34357686443576864Humanname
405238091CV3077863single nucleotide variantNM_018075.5(ANO10):c.744G>A (p.Ser248=)not provided [RCV003736291]likely benign34357711043577110Humanname
405112853CV3133663single nucleotide variantNM_018075.5(ANO10):c.628C>T (p.Leu210=)not provided [RCV003836456]likely benign|conflicting interpretations of pathogenicity34357722643577226Humanname
405116098CV3134272single nucleotide variantNM_018075.5(ANO10):c.741C>T (p.Ala247=)not provided [RCV003836874]likely benign34357711343577113Humanname
405091416CV3134473single nucleotide variantNM_018075.5(ANO10):c.528T>C (p.Ser176=)not provided [RCV003834819]likely benign34358041743580417Humanname
405074011CV3136525single nucleotide variantNM_018075.5(ANO10):c.579G>A (p.Lys193=)not provided [RCV003833615]likely benign34358036643580366Humanname
405187871CV3149207single nucleotide variantNM_018075.5(ANO10):c.348T>C (p.Asp116=)not provided [RCV003843133]likely benign34359865643598656Humanname
405222432CV3158265single nucleotide variantNM_018075.5(ANO10):c.750C>T (p.Asn250=)not provided [RCV003863761]likely benign34357710443577104Humanname
405247432CV3158692single nucleotide variantNM_018075.5(ANO10):c.786G>A (p.Lys262=)not provided [RCV003869034]likely benign34357706843577068Humanname
405195113CV3167667single nucleotide variantNM_018075.5(ANO10):c.645G>A (p.Leu215=)not provided [RCV003860073]likely benign34357720943577209Humanname
402484005CV3170968single nucleotide variantNM_018075.5(ANO10):c.972C>G (p.Leu324=)not provided [RCV003876171]likely benign34357688243576882Humanname
402466382CV3173642single nucleotide variantNM_018075.5(ANO10):c.489G>A (p.Thr163=)not provided [RCV003873116]likely benign34358045643580456Humanname
405253800CV3178652single nucleotide variantNM_018075.5(ANO10):c.73C>T (p.Gln25Ter)not provided [RCV003871254]pathogenic34360578043605780Humanname
405228599CV3180398single nucleotide variantNM_018075.5(ANO10):c.738T>C (p.Phe246=)not provided [RCV003864819]likely benign34357711643577116Humanname
15103858CV720447single nucleotide variantNM_018075.5(ANO10):c.855G>A (p.Arg285=)not provided [RCV000892764]likely benign34357699943576999Humanname
15153660CV734067single nucleotide variantNM_018075.5(ANO10):c.978C>T (p.Leu326=)not provided [RCV000901804]likely benign34357687643576876Humanname
41405978CV982500single nucleotide variantNM_018075.5(ANO10):c.963C>T (p.Phe321=)not provided [RCV003222292]|not specified [RCV001287986]benign|likely benign34357689143576891Humanname
41405975CV982502single nucleotide variantNM_018075.5(ANO10):c.312C>G (p.Thr104=)not provided [RCV001287979]likely benign34360040943600409Humanname
41405977CV982503single nucleotide variantNM_018075.5(ANO10):c.88G>C (p.Glu30Gln)Autosomal recessive spinocerebellar ataxia 10 [RCV005038025]|not provided [RCV001287985]|not specified [RCV004998786]likely benign|conflicting interpretations of pathogenicity|uncertain significance34360576543605765Human1name
126738040CV1000401single nucleotide variantNM_018075.5(ANO10):c.1047C>T (p.Asn349=)not provided [RCV001312014]likely benign34357680743576807Humanname
150447408CV1015180single nucleotide variantNM_018075.5(ANO10):c.206T>A (p.Leu69Ter)Autosomal recessive spinocerebellar ataxia 10 [RCV001647162]pathogenic34360051543600515Human1name
150332211CV1163734single nucleotide variantNM_018075.5(ANO10):c.218G>A (p.Gly73Asp)Autosomal recessive spinocerebellar ataxia 10 [RCV001528140]uncertain significance34360050343600503Human1name
151350603CV1325729single nucleotide variantNM_018075.5(ANO10):c.140G>T (p.Gly47Val)not specified [RCV001815074]uncertain significance34360058143600581Humanname
401950478CV1667294single nucleotide variantNM_018075.5(ANO10):c.1474T>C (p.Leu492=)not provided [RCV002214281]|not specified [RCV004999674]likely benign34356122243561222Humanname
155801142CV1864061single nucleotide variantNM_018075.5(ANO10):c.1137T>C (p.Tyr379=)not provided [RCV002474485]conflicting interpretations of pathogenicity|uncertain significance34357671743576717Humanname
156277465CV2330837single nucleotide variantNM_018075.5(ANO10):c.280G>A (p.Asp94Asn)Inborn genetic diseases [RCV002960735]uncertain significance34360044143600441Human1name
243063402CV2411719single nucleotide variantNM_018075.5(ANO10):c.130A>G (p.Lys44Glu)Autosomal recessive spinocerebellar ataxia 10 [RCV003141442]uncertain significance34360572343605723Human1name
401767648CV2729815single nucleotide variantNM_018075.5(ANO10):c.278A>G (p.Asn93Ser)Inborn genetic diseases [RCV003302284]uncertain significance34360044343600443Human1name
401724125CV2737985single nucleotide variantNM_018075.5(ANO10):c.101G>A (p.Trp34Ter)Autosomal recessive spinocerebellar ataxia 10 [RCV003315157]likely pathogenic34360575243605752Human1name
401891640CV2779268single nucleotide variantNM_018075.5(ANO10):c.129A>C (p.Lys43Asn)Inborn genetic diseases [RCV003355011]uncertain significance34360572443605724Human1name
401926348CV2827310single nucleotide variantNM_018075.5(ANO10):c.1683G>A (p.Thr561=)not provided [RCV003437788]likely benign34354983443549834Humanname
402487571CV2861762single nucleotide variantNM_018075.5(ANO10):c.1461A>G (p.Glu487=)not provided [RCV003544630]likely benign34356123543561235Humanname
402510668CV2862110deletionNM_018075.5(ANO10):c.440del (p.Pro147fs)not provided [RCV003546956]pathogenic34359856443598564Humanname
402523479CV2867670single nucleotide variantNM_018075.5(ANO10):c.1893T>A (p.Ser631=)not provided [RCV003547915]likely benign34343263243432632Humanname
402498246CV2871725single nucleotide variantNM_018075.5(ANO10):c.1356T>G (p.Pro452=)not provided [RCV003545611]likely benign34356134043561340Humanname
405215951CV2876237single nucleotide variantNM_018075.5(ANO10):c.1050C>T (p.Ser350=)not provided [RCV003553197]likely benign34357680443576804Humanname
405214558CV2879570single nucleotide variantNM_018075.5(ANO10):c.1408T>C (p.Leu470=)not provided [RCV003552976]likely benign34356128843561288Humanname
405226010CV2882281single nucleotide variantNM_018075.5(ANO10):c.1800C>T (p.His600=)not provided [RCV003554670]likely benign34343272543432725Humanname
405110103CV2898911single nucleotide variantNM_018075.5(ANO10):c.1101C>T (p.Ala367=)not provided [RCV003557755]likely benign34357675343576753Humanname
402471455CV2904590single nucleotide variantNM_018075.5(ANO10):c.1740G>C (p.Val580=)not provided [RCV003570585]likely benign34354977743549777Humanname
402473277CV2908877single nucleotide variantNM_018075.5(ANO10):c.1806C>T (p.Leu602=)not provided [RCV003570955]likely benign34343271943432719Humanname
11652633CV291183single nucleotide variantNM_018075.5(ANO10):c.1416A>C (p.Ala472=)Autosomal recessive spinocerebellar ataxia 10 [RCV000306066]uncertain significance34356128043561280Human1name
402475908CV2916837single nucleotide variantNM_018075.5(ANO10):c.1473T>C (p.Tyr491=)not provided [RCV003571419]likely benign34356122343561223Humanname
402464450CV2920074deletionNM_018075.5(ANO10):c.312del (p.Arg105fs)not provided [RCV003568964]pathogenic34360040943600409Humanname
405214417CV2925078single nucleotide variantNM_018075.5(ANO10):c.1431A>T (p.Thr477=)not provided [RCV003567552]likely benign34356126543561265Humanname
405007607CV2926781single nucleotide variantNM_018075.5(ANO10):c.1479C>T (p.Gly493=)not provided [RCV003576465]likely benign34355546743555467Humanname
405008194CV2926866single nucleotide variantNM_018075.5(ANO10):c.1185C>T (p.Ala395=)not provided [RCV003576510]likely benign34357484243574842Humanname
405013211CV2930193single nucleotide variantNM_018075.5(ANO10):c.1245A>G (p.Ser415=)not provided [RCV003576916]likely benign34356570143565701Humanname
402503471CV2933381duplicationNM_018075.5(ANO10):c.616dup (p.Glu206fs)not provided [RCV003574234]pathogenic34357723743577238Humanname
402481980CV2940848single nucleotide variantNM_018075.5(ANO10):c.1377T>C (p.His459=)not provided [RCV003659731]likely benign34356131943561319Humanname
11597095CV294457single nucleotide variantNM_018075.5(ANO10):c.1683G>C (p.Thr561=)Autosomal recessive spinocerebellar ataxia 10 [RCV000390196]|not provided [RCV000885999]benign|likely benign|uncertain significance34354983443549834Human1name
11662015CV294884deletionNM_018075.5(ANO10):c.616del (p.Glu206fs)Autosomal recessive spinocerebellar ataxia 10 [RCV000382211]uncertain significance34357723843577238Humanname
405115792CV2951532single nucleotide variantNM_018075.5(ANO10):c.1632A>G (p.Pro544=)not provided [RCV003670879]likely benign34355531443555314Humanname
405131799CV2959127single nucleotide variantNM_018075.5(ANO10):c.1740G>A (p.Val580=)not provided [RCV003668444]likely benign34354977743549777Humanname
405134034CV2959344single nucleotide variantNM_018075.5(ANO10):c.1872A>G (p.Leu624=)not provided [RCV003668575]likely benign34343265343432653Humanname
405229583CV2968016single nucleotide variantNM_018075.5(ANO10):c.1507C>T (p.Leu503=)not provided [RCV003682029]likely benign34355543943555439Humanname
405198023CV2973009single nucleotide variantNM_018075.5(ANO10):c.1548A>G (p.Pro516=)not provided [RCV003677884]likely benign34355539843555398Humanname
402507743CV2982518single nucleotide variantNM_018075.5(ANO10):c.1545C>T (p.Tyr515=)not provided [RCV003689148]likely benign34355540143555401Humanname
402509328CV2994609single nucleotide variantNM_018075.5(ANO10):c.1308C>G (p.Leu436=)not provided [RCV003689399]likely benign34356138843561388Humanname
402519582CV3000210single nucleotide variantNM_018075.5(ANO10):c.1674T>A (p.Ala558=)not provided [RCV003716325]likely benign34354984343549843Humanname
405121262CV3004005single nucleotide variantNM_018075.5(ANO10):c.1584T>G (p.Thr528=)not provided [RCV003723916]likely benign34355536243555362Humanname
405121369CV3004036single nucleotide variantNM_018075.5(ANO10):c.1083G>C (p.Val361=)not provided [RCV003723927]likely benign34357677143576771Humanname
405121668CV3004119single nucleotide variantNM_018075.5(ANO10):c.1008C>T (p.Tyr336=)not provided [RCV003723956]likely benign34357684643576846Humanname
404977660CV3015223single nucleotide variantNM_018075.5(ANO10):c.1731A>G (p.Ser577=)not provided [RCV003690595]likely benign34354978643549786Humanname
405174697CV3023491single nucleotide variantNM_018075.5(ANO10):c.1434A>G (p.Leu478=)not provided [RCV003704991]likely benign34356126243561262Humanname
405173987CV3026985single nucleotide variantNM_018075.5(ANO10):c.1320C>G (p.Ser440=)not provided [RCV003704932]likely benign34356137643561376Humanname
405178851CV3027509single nucleotide variantNM_018075.5(ANO10):c.1452G>A (p.Leu484=)not provided [RCV003705268]likely benign34356124443561244Humanname
405198802CV3032765single nucleotide variantNM_018075.5(ANO10):c.1077G>A (p.Leu359=)not provided [RCV003707171]likely benign34357677743576777Humanname
405071773CV3034437single nucleotide variantNM_018075.5(ANO10):c.1197T>C (p.His399=)not provided [RCV003698364]likely benign34357483043574830Humanname
405218702CV3034937single nucleotide variantNM_018075.5(ANO10):c.1443A>G (p.Gln481=)not provided [RCV003709659]likely benign34356125343561253Humanname
405184524CV3040252single nucleotide variantNM_018075.5(ANO10):c.1449C>T (p.Ile483=)not provided [RCV003705886]likely benign34356124743561247Humanname
405224506CV3058137single nucleotide variantNM_018075.5(ANO10):c.1521T>C (p.Tyr507=)not provided [RCV003733813]|not specified [RCV005000015]likely benign34355542543555425Humanname
405226306CV3059346single nucleotide variantNM_018075.5(ANO10):c.1932C>T (p.Thr644=)not provided [RCV003734111]likely benign34336695743366957Humanname
405202733CV3067022single nucleotide variantNM_018075.5(ANO10):c.1266C>G (p.Val422=)not provided [RCV003730882]likely benign34356568043565680Humanname
405245980CV3075663single nucleotide variantNM_018075.5(ANO10):c.1143C>G (p.Ala381=)not provided [RCV003738609]likely benign34357671143576711Humanname
405211892CV3117880single nucleotide variantNM_018075.5(ANO10):c.1281G>A (p.Lys427=)not provided [RCV003823479]likely benign34356566543565665Humanname
404981648CV3124836single nucleotide variantNM_018075.5(ANO10):c.1926C>T (p.Leu642=)ANO10-related disorder [RCV003909172]|not provided [RCV003826183]likely benign34336696343366963Human1name , trait , alternate_id
405140097CV3125790single nucleotide variantNM_018075.5(ANO10):c.1038A>G (p.Leu346=)not provided [RCV003816705]likely benign34357681643576816Humanname
405196207CV3128764single nucleotide variantNM_018075.5(ANO10):c.1143C>T (p.Ala381=)not provided [RCV003821502]likely benign34357671143576711Humanname
405085586CV3137728single nucleotide variantNM_018075.5(ANO10):c.1770C>T (p.Asp590=)not provided [RCV003834437]likely benign34354974743549747Humanname
405106004CV3139892single nucleotide variantNM_018075.5(ANO10):c.1563T>C (p.Phe521=)not provided [RCV003835303]likely benign34355538343555383Humanname
405201466CV3143555single nucleotide variantNM_018075.5(ANO10):c.1311A>G (p.Leu437=)not provided [RCV003844541]likely benign34356138543561385Humanname
405232735CV3144935deletionNM_018075.5(ANO10):c.542del (p.Lys181fs)not provided [RCV003853192]pathogenic34358040343580403Humanname
405160445CV3152989single nucleotide variantNM_018075.5(ANO10):c.1302C>T (p.Ala434=)not provided [RCV003840724]likely benign34356139443561394Humanname
405161733CV3153079single nucleotide variantNM_018075.5(ANO10):c.1174T>C (p.Leu392=)not provided [RCV003840814]likely benign34357485343574853Humanname
405191242CV3156981single nucleotide variantNM_018075.5(ANO10):c.1332C>T (p.Asn444=)not provided [RCV003859669]likely benign34356136443561364Humanname
405159244CV3159865single nucleotide variantNM_018075.5(ANO10):c.1566T>C (p.Ala522=)not provided [RCV003856936]likely benign34355538043555380Humanname
405201830CV3165009single nucleotide variantNM_018075.5(ANO10):c.1879C>T (p.Leu627=)not provided [RCV003860870]likely benign34343264643432646Humanname
405204985CV3165536single nucleotide variantNM_018075.5(ANO10):c.1716G>C (p.Ala572=)not provided [RCV003861202]likely benign34354980143549801Humanname
405254597CV3175429single nucleotide variantNM_018075.5(ANO10):c.1647A>G (p.Ser549=)not provided [RCV003871696]likely benign34355529943555299Humanname
405229675CV3176643single nucleotide variantNM_018075.5(ANO10):c.1596A>C (p.Ser532=)not provided [RCV003865017]likely benign34355535043555350Humanname
407521327CV3458358single nucleotide variantNM_018075.5(ANO10):c.289A>G (p.Met97Val)Inborn genetic diseases [RCV004652491]uncertain significance34360043243600432Human1name
407475223CV3494647single nucleotide variantNM_018075.5(ANO10):c.220G>C (p.Ala74Pro)not specified [RCV004690546]uncertain significance34360050143600501Humanname
597716652CV3717492duplicationNM_018075.5(ANO10):c.580dup (p.Tyr194fs)Autosomal recessive spinocerebellar ataxia 10 [RCV005035320]likely pathogenic34358036443580365Human1name
597716660CV3717493single nucleotide variantNM_018075.5(ANO10):c.145C>T (p.Gln49Ter)Autosomal recessive spinocerebellar ataxia 10 [RCV005035321]likely pathogenic34360057643600576Human1name
597845639CV3736357single nucleotide variantNM_018075.5(ANO10):c.1905C>T (p.Leu635=)not provided [RCV005059935]likely benign34343262043432620Humanname
597936035CV3764769single nucleotide variantNM_018075.5(ANO10):c.1605A>G (p.Leu535=)not provided [RCV005117468]likely benign34355534143555341Humanname
597929297CV3779781single nucleotide variantNM_018075.5(ANO10):c.1065C>T (p.Thr355=)not provided [RCV005116310]likely benign34357678943576789Humanname
597902222CV3792728single nucleotide variantNM_018075.5(ANO10):c.1752T>C (p.Phe584=)not provided [RCV005152880]likely benign34354976543549765Humanname
597908303CV3806098single nucleotide variantNM_018075.5(ANO10):c.1089C>T (p.Ser363=)not provided [RCV005153856]likely benign34357676543576765Humanname
597954333CV3812702single nucleotide variantNM_018075.5(ANO10):c.1389G>C (p.Val463=)not provided [RCV005161976]likely benign34356130743561307Humanname
597895489CV3833687single nucleotide variantNM_018075.5(ANO10):c.1389G>A (p.Val463=)not provided [RCV005180379]likely benign34356130743561307Humanname
13478504CV440795single nucleotide variantNM_018075.5(ANO10):c.224C>T (p.Ser75Phe)not provided [RCV000516700]uncertain significance34360049743600497Humanname
13480575CV443459single nucleotide variantNM_018075.5(ANO10):c.124A>T (p.Lys42Ter)Autosomal recessive spinocerebellar ataxia 10 [RCV004689777]|not provided [RCV000521272]pathogenic|likely pathogenic34360572943605729Human1name
15198035CV698098single nucleotide variantNM_018075.5(ANO10):c.1011C>T (p.Phe337=)ANO10-related disorder [RCV003978300]|not provided [RCV000956634]likely benign34357684343576843Human1name , trait , alternate_id
15098510CV748271single nucleotide variantNM_018075.5(ANO10):c.1128C>T (p.Leu376=)not provided [RCV000914266]likely benign34357672643576726Humanname
21072740CV793008single nucleotide variantNM_018075.5(ANO10):c.1962C>T (p.Ser654=)not provided [RCV000991524]likely benign34336692743366927Humanname
21072731CV793010single nucleotide variantNM_018075.5(ANO10):c.1716G>A (p.Ala572=)not provided [RCV000991522]likely benign34354980143549801Humanname
28875825CV888895single nucleotide variantNM_018075.5(ANO10):c.1923G>A (p.Lys641=)Autosomal recessive spinocerebellar ataxia 10 [RCV001147835]|not provided [RCV003727914]likely benign|uncertain significance34336696643366966Human1name
28875834CV888896single nucleotide variantNM_018075.5(ANO10):c.1710C>T (p.Asn570=)Autosomal recessive spinocerebellar ataxia 10 [RCV001147837]|not provided [RCV003718363]likely benign|conflicting interpretations of pathogenicity|uncertain significance34354980743549807Human1name
28869794CV888899single nucleotide variantNM_018075.5(ANO10):c.1401G>T (p.Val467=)Autosomal recessive spinocerebellar ataxia 10 [RCV001145078]|not provided [RCV003433034]|not specified [RCV001664705]likely benign|uncertain significance34356129543561295Human1name
28880927CV888907single nucleotide variantNM_018075.5(ANO10):c.236T>G (p.Met79Arg)Autosomal recessive spinocerebellar ataxia 10 [RCV001149462]|Inborn genetic diseases [RCV002557214]|not provided [RCV001664708]uncertain significance34360048543600485Human2name
28880932CV888908single nucleotide variantNM_018075.5(ANO10):c.127A>G (p.Lys43Glu)Autosomal recessive spinocerebellar ataxia 10 [RCV001149463]uncertain significance34360572643605726Human1name
38462093CV918831single nucleotide variantNM_018075.5(ANO10):c.223T>A (p.Ser75Thr)Autosomal recessive spinocerebellar ataxia 10 [RCV001198167]|Inborn genetic diseases [RCV004033477]|not provided [RCV001552630]uncertain significance34360049843600498Human2name
41405974CV982498single nucleotide variantNM_018075.5(ANO10):c.1260C>T (p.Ala420=)not provided [RCV001287977]conflicting interpretations of pathogenicity|uncertain significance34356568643565686Humanname
126738807CV1016251single nucleotide variantNM_018075.5(ANO10):c.882C>G (p.Ile294Met)Autosomal recessive spinocerebellar ataxia 10 [RCV001329041]uncertain significance34357697243576972Human1name
127266210CV1070817single nucleotide variantNM_018075.5(ANO10):c.884A>G (p.Asn295Ser)not provided [RCV001403818]likely benign34357697043576970Humanname
150432174CV1246201single nucleotide variantNM_018075.5(ANO10):c.397G>A (p.Glu133Lys)not provided [RCV001663614]|not specified [RCV004998951]likely benign|conflicting interpretations of pathogenicity|uncertain significance34359860743598607Humanname
155801138CV1864057single nucleotide variantNM_018075.5(ANO10):c.488C>T (p.Thr163Met)not provided [RCV002474481]conflicting interpretations of pathogenicity|uncertain significance34358045743580457Humanname
155801753CV1864064single nucleotide variantNM_018075.5(ANO10):c.712G>C (p.Glu238Gln)not provided [RCV002475016]uncertain significance34357714243577142Humanname
155801754CV1864065single nucleotide variantNM_018075.5(ANO10):c.341A>G (p.Asn114Ser)not provided [RCV002475017]uncertain significance34359866343598663Humanname
155801755CV1864066single nucleotide variantNM_018075.5(ANO10):c.602G>A (p.Arg201His)not provided [RCV002475018]uncertain significance34357725243577252Humanname
156380834CV2218346single nucleotide variantNM_018075.5(ANO10):c.499G>A (p.Val167Met)Inborn genetic diseases [RCV002722475]uncertain significance34358044643580446Human1name
156251214CV2232279single nucleotide variantNM_018075.5(ANO10):c.809A>G (p.Tyr270Cys)Inborn genetic diseases [RCV002713989]uncertain significance34357704543577045Human1name
155925879CV2258644single nucleotide variantNM_018075.5(ANO10):c.877G>T (p.Gly293Cys)Inborn genetic diseases [RCV002773628]uncertain significance34357697743576977Human1name
329352780CV2476906single nucleotide variantNM_018075.5(ANO10):c.359C>T (p.Thr120Ile)not provided [RCV003223138]uncertain significance34359864543598645Humanname
401892061CV2775911single nucleotide variantNM_018075.5(ANO10):c.859G>A (p.Gly287Arg)Inborn genetic diseases [RCV003355227]uncertain significance34357699543576995Human1name
401962690CV2845312single nucleotide variantNM_018075.5(ANO10):c.412A>G (p.Lys138Glu)not provided [RCV003482773]uncertain significance34359859243598592Humanname
401962694CV2845316single nucleotide variantNM_018075.5(ANO10):c.532G>A (p.Ala178Thr)not provided [RCV003482777]uncertain significance34358041343580413Humanname
405173795CV2853521deletionNM_018075.5(ANO10):c.1850del (p.Pro617fs)not provided [RCV003542562]uncertain significance34343267543432675Humanname
402475416CV2863803deletionNM_018075.5(ANO10):c.1029del (p.Leu344fs)not provided [RCV003543288]pathogenic34357682543576825Humanname
405120672CV2887998single nucleotide variantNM_018075.5(ANO10):c.308G>A (p.Arg103Lys)Inborn genetic diseases [RCV004953315]|not provided [RCV003559060]likely benign|uncertain significance34360041343600413Human1name
11650169CV291184single nucleotide variantNM_018075.5(ANO10):c.632A>G (p.Tyr211Cys)Autosomal recessive spinocerebellar ataxia 10 [RCV000291253]uncertain significance34357722243577222Human1name
402475715CV2916800single nucleotide variantNM_018075.5(ANO10):c.650A>G (p.Tyr217Cys)not provided [RCV003571390]likely benign34357720443577204Humanname
402508203CV2924458deletionNM_018075.5(ANO10):c.1063del (p.Thr355fs)not provided [RCV003574674]pathogenic34357679143576791Humanname
11596537CV294470single nucleotide variantNM_018075.5(ANO10):c.676G>A (p.Ala226Thr)Autosomal recessive spinocerebellar ataxia 10 [RCV000383366]|Inborn genetic diseases [RCV004021913]uncertain significance34357717843577178Human2name
11591589CV294876single nucleotide variantNM_018075.5(ANO10):c.980A>G (p.Tyr327Cys)Autosomal recessive spinocerebellar ataxia 10 [RCV000613613]|Inborn genetic diseases [RCV002520121]|not provided [RCV000415975]likely benign|conflicting interpretations of pathogenicity|uncertain significance34357687443576874Human2name
405192343CV2965035single nucleotide variantNM_018075.5(ANO10):c.710G>A (p.Trp237Ter)not provided [RCV003677320]pathogenic34357714443577144Humanname
405231848CV2988524single nucleotide variantNM_018075.5(ANO10):c.470T>A (p.Leu157Ter)not provided [RCV003711653]pathogenic34359853443598534Humanname
402488748CV2995614single nucleotide variantNM_018075.5(ANO10):c.993T>G (p.Tyr331Ter)not provided [RCV003687325]pathogenic34357686143576861Humanname
405005449CV3009980single nucleotide variantNM_018075.5(ANO10):c.758G>A (p.Trp253Ter)not provided [RCV003693537]pathogenic34357709643577096Humanname
405130943CV3011090deletionNM_018075.5(ANO10):c.1264del (p.Val422fs)not provided [RCV003701692]pathogenic34356568243565682Humanname
405055702CV3023289deletionNM_018075.5(ANO10):c.1519del (p.Tyr507fs)Autosomal recessive spinocerebellar ataxia 10 [RCV005036944]|not provided [RCV003697323]pathogenic|likely pathogenic34355542743555427Human1name
405174831CV3026984deletionNM_018075.5(ANO10):c.1321del (p.Gln441fs)not provided [RCV003704931]pathogenic34356137543561375Humanname
405208548CV3037212deletionNM_018075.5(ANO10):c.1350del (p.Leu451fs)not provided [RCV003708328]pathogenic34356134643561346Humanname
402523495CV3127004single nucleotide variantNM_018075.5(ANO10):c.986C>G (p.Ser329Ter)Autosomal recessive spinocerebellar ataxia 10 [RCV005356543]|not provided [RCV003824922]pathogenic|likely pathogenic34357686843576868Human1name
405085867CV3167353duplicationNM_018075.5(ANO10):c.1276dup (p.Met426fs)not provided [RCV003851934]pathogenic34356566943565670Humanname
405265554CV3185742single nucleotide variantNM_018075.5(ANO10):c.730G>T (p.Val244Leu)not provided [RCV003886306]uncertain significance34357712443577124Humanname
405695384CV3282477single nucleotide variantNM_018075.5(ANO10):c.382A>T (p.Ile128Phe)Inborn genetic diseases [RCV004424438]uncertain significance34359862243598622Human1name
405695390CV3282478single nucleotide variantNM_018075.5(ANO10):c.429C>G (p.Ile143Met)Inborn genetic diseases [RCV004424439]uncertain significance34359857543598575Human1name
405695395CV3282479single nucleotide variantNM_018075.5(ANO10):c.632A>C (p.Tyr211Ser)Inborn genetic diseases [RCV004424440]uncertain significance34357722243577222Human1name
405695398CV3282480single nucleotide variantNM_018075.5(ANO10):c.976C>T (p.Leu326Phe)Inborn genetic diseases [RCV004424441]uncertain significance34357687843576878Human1name
407521299CV3458347single nucleotide variantNM_018075.5(ANO10):c.900G>T (p.Lys300Asn)Inborn genetic diseases [RCV004652483]uncertain significance34357695443576954Human1name
408367163CV3515778single nucleotide variantNM_018075.5(ANO10):c.815G>C (p.Trp272Ser)ANO10-related disorder [RCV004757884]uncertain significance34357703943577039Humanname , trait , alternate_id
408386193CV3528812single nucleotide variantNM_018075.5(ANO10):c.556T>C (p.Trp186Arg)not provided [RCV004772645]uncertain significance34358038943580389Humanname
408386194CV3528813single nucleotide variantNM_018075.5(ANO10):c.337G>A (p.Asp113Asn)not provided [RCV004772646]uncertain significance34360038443600384Humanname
597710190CV3554943single nucleotide variantNM_018075.5(ANO10):c.787C>T (p.Arg263Cys)Inborn genetic diseases [RCV004958954]uncertain significance34357706743577067Human1name
597710203CV3554950single nucleotide variantNM_018075.5(ANO10):c.439C>T (p.Pro147Ser)Inborn genetic diseases [RCV004958956]uncertain significance34359856543598565Human1name
597710222CV3554967single nucleotide variantNM_018075.5(ANO10):c.359C>A (p.Thr120Lys)Inborn genetic diseases [RCV004958959]uncertain significance34359864543598645Human1name
597710236CV3554983single nucleotide variantNM_018075.5(ANO10):c.338A>G (p.Asp113Gly)Inborn genetic diseases [RCV004958961]uncertain significance34359866643598666Human1name
597710249CV3554989single nucleotide variantNM_018075.5(ANO10):c.764C>T (p.Thr255Met)Inborn genetic diseases [RCV004958963]uncertain significance34357709043577090Human1name
597710255CV3554996single nucleotide variantNM_018075.5(ANO10):c.590T>C (p.Ile197Thr)Inborn genetic diseases [RCV004958964]uncertain significance34358035543580355Human1name
597716639CV3717489duplicationNM_018075.5(ANO10):c.1558dup (p.Ala520fs)Autosomal recessive spinocerebellar ataxia 10 [RCV005035318]likely pathogenic34355538743555388Human1name
598223095CV3893961single nucleotide variantNM_018075.5(ANO10):c.443A>C (p.Gln148Pro)not provided [RCV005257204]uncertain significance34359856143598561Humanname
13214780CV428190single nucleotide variantNM_018075.5(ANO10):c.306C>A (p.Tyr102Ter)Autosomal recessive spinocerebellar ataxia 10 [RCV000501690]pathogenic34360041543600415Human1name
13482068CV440789single nucleotide variantNM_018075.5(ANO10):c.938G>A (p.Arg313His)Inborn genetic diseases [RCV002527454]|not provided [RCV005409664]|not specified [RCV000517762]uncertain significance34357691643576916Human1name
13480178CV440790single nucleotide variantNM_018075.5(ANO10):c.866A>G (p.His289Arg)not specified [RCV000517195]uncertain significance34357698843576988Humanname
13481865CV440791single nucleotide variantNM_018075.5(ANO10):c.608A>G (p.Tyr203Cys)not specified [RCV000517705]uncertain significance34357724643577246Humanname
13478736CV440792single nucleotide variantNM_018075.5(ANO10):c.512T>C (p.Phe171Ser)Autosomal recessive spinocerebellar ataxia 10 [RCV000778699]|not provided [RCV003558436]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance34358043343580433Human1name
13808033CV576735single nucleotide variantNM_018075.5(ANO10):c.850C>A (p.Pro284Thr)not provided [RCV000710543]uncertain significance34357700443577004Humanname
13808031CV576736single nucleotide variantNM_018075.5(ANO10):c.790G>A (p.Gly264Ser)Inborn genetic diseases [RCV002534488]|not provided [RCV000710542]uncertain significance34357706443577064Human1name
14396999CV612653single nucleotide variantNM_018075.5(ANO10):c.391G>A (p.Glu131Lys)not provided [RCV000762110]uncertain significance34359861343598613Humanname
15100152CV720448single nucleotide variantNM_018075.5(ANO10):c.842T>C (p.Phe281Ser)ANO10-related disorder [RCV003910605]|not provided [RCV000892058]benign34357701243577012Human1name , trait , alternate_id
15137764CV734068single nucleotide variantNM_018075.5(ANO10):c.799A>G (p.Asn267Asp)Autosomal recessive spinocerebellar ataxia 10 [RCV001147922]|not provided [RCV000898863]likely benign|uncertain significance34357705543577055Human1name
21072755CV793011single nucleotide variantNM_018075.5(ANO10):c.989T>G (p.Leu330Arg)not provided [RCV000991527]uncertain significance34357686543576865Humanname
21072749CV793012single nucleotide variantNM_018075.5(ANO10):c.416A>T (p.Asp139Val)not provided [RCV000991526]uncertain significance34359858843598588Humanname
21072744CV793013single nucleotide variantNM_018075.5(ANO10):c.305A>G (p.Tyr102Cys)not provided [RCV000991525]uncertain significance34360041643600416Humanname
28874058CV888902single nucleotide variantNM_018075.5(ANO10):c.857C>T (p.Pro286Leu)Autosomal recessive spinocerebellar ataxia 10 [RCV001147035]uncertain significance34357699743576997Human1name
28874062CV888903single nucleotide variantNM_018075.5(ANO10):c.853C>T (p.Arg285Trp)Autosomal recessive spinocerebellar ataxia 10 [RCV001147036]uncertain significance34357700143577001Human1name
28876088CV888904single nucleotide variantNM_018075.5(ANO10):c.837A>T (p.Arg279Ser)Autosomal recessive spinocerebellar ataxia 10 [RCV001147920]|Inborn genetic diseases [RCV003163329]|not provided [RCV001287984]uncertain significance34357701743577017Human2name
28876092CV888905single nucleotide variantNM_018075.5(ANO10):c.802A>G (p.Met268Val)Autosomal recessive spinocerebellar ataxia 10 [RCV001147921]uncertain significance34357705243577052Human1name
28876099CV888906single nucleotide variantNM_018075.5(ANO10):c.788G>A (p.Arg263His)Autosomal recessive spinocerebellar ataxia 10 [RCV001147923]|not provided [RCV001724255]|not specified [RCV001287983]benign|likely benign34357706643577066Human2name
28876099CV888906single nucleotide variantNM_018075.5(ANO10):c.788G>A (p.Arg263His)Autosomal recessive spinocerebellar ataxia 10 [RCV001147923]|not provided [RCV001724255]|not specified [RCV001287983]benign|likely benign34357706643577067Human2name
38598765CV964816duplicationNM_018075.5(ANO10):c.1551dup (p.Ala518fs)Autosomal recessive spinocerebellar ataxia 10 [RCV001254060]|not provided [RCV003438737]pathogenic34355539443555395Human1name
40904111CV976253single nucleotide variantNM_018075.5(ANO10):c.611T>G (p.Phe204Cys)not provided [RCV001269928]likely pathogenic34357724343577243Humanname
41405976CV982501single nucleotide variantNM_018075.5(ANO10):c.566G>A (p.Arg189Gln)not provided [RCV001287981]conflicting interpretations of pathogenicity|uncertain significance34358037943580379Humanname
8658975CV133835single nucleotide variantNM_018075.5(ANO10):c.1066A>G (p.Ser356Gly)Autosomal recessive spinocerebellar ataxia 10 [RCV000606579]|not provided [RCV000991519]|not specified [RCV000116350]benign|likely benign34357678843576788Human1name
8658976CV133836single nucleotide variantNM_018075.5(ANO10):c.1385G>A (p.Arg462Gln)Autosomal recessive spinocerebellar ataxia 10 [RCV000613942]|not provided [RCV000991521]|not specified [RCV000116351]benign|likely benign|conflicting interpretations of pathogenicity34356131143561311Human1name
8658977CV133837single nucleotide variantNM_018075.5(ANO10):c.1682C>T (p.Thr561Met)Autosomal recessive spinocerebellar ataxia 10 [RCV000606923]|not provided [RCV001711378]|not specified [RCV000116352]benign|likely benign34354983543549835Human1name
155267890CV1701432duplicationNM_018075.5(ANO10):c.1056dup (p.Glu353Ter)Autosomal recessive spinocerebellar ataxia 10 [RCV002283657]|not provided [RCV003482405]pathogenic|likely pathogenic34357679743576798Human1name
9686460CV171738single nucleotide variantNM_018075.5(ANO10):c.1843G>A (p.Asp615Asn)Autosomal recessive spinocerebellar ataxia 10 [RCV000149438]|not provided [RCV002514864]|not specified [RCV001815207]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance34343268243432682Human1name
9686457CV171739single nucleotide variantNM_018075.5(ANO10):c.1144G>T (p.Glu382Ter)Autosomal recessive spinocerebellar ataxia 10 [RCV000149439]|not provided [RCV003556195]pathogenic|uncertain significance34357671043576710Human1name
155801143CV1864062single nucleotide variantNM_018075.5(ANO10):c.1585G>T (p.Glu529Ter)not provided [RCV002474486]pathogenic34355536143555361Humanname
155801756CV1864067single nucleotide variantNM_018075.5(ANO10):c.1429A>G (p.Thr477Ala)not provided [RCV002475019]uncertain significance34356126743561267Humanname
155983272CV2233284single nucleotide variantNM_018075.5(ANO10):c.1221C>A (p.Phe407Leu)Inborn genetic diseases [RCV002732663]uncertain significance34356572543565725Human1name
155966540CV2304766single nucleotide variantNM_018075.5(ANO10):c.1170C>G (p.His390Gln)Inborn genetic diseases [RCV002906534]uncertain significance34357485743574857Human1name
401731236CV2693687single nucleotide variantNM_018075.5(ANO10):c.1253A>T (p.Tyr418Phe)Inborn genetic diseases [RCV003289816]uncertain significance34356569343565693Human1name
401962673CV2845295single nucleotide variantNM_018075.5(ANO10):c.1753C>A (p.Pro585Thr)not provided [RCV003482756]uncertain significance34354976443549764Humanname
401962676CV2845298single nucleotide variantNM_018075.5(ANO10):c.1760C>G (p.Ser587Ter)not provided [RCV003482759]pathogenic|likely pathogenic34354975743549757Humanname
401962680CV2845302single nucleotide variantNM_018075.5(ANO10):c.1853G>A (p.Arg618Gln)not provided [RCV003482763]uncertain significance34343267243432672Humanname
401962682CV2845304single nucleotide variantNM_018075.5(ANO10):c.1866G>A (p.Met622Ile)not provided [RCV003482765]uncertain significance34343265943432659Humanname
11652854CV290315single nucleotide variantNM_018075.5(ANO10):c.1595C>T (p.Ser532Leu)Autosomal recessive spinocerebellar ataxia 10 [RCV000307319]uncertain significance34355535143555351Human1name
11583344CV290321single nucleotide variantNM_018075.5(ANO10):c.1339A>T (p.Met447Leu)Autosomal recessive spinocerebellar ataxia 10 [RCV000265866]uncertain significance34356135743561357Human1name
11587617CV290324single nucleotide variantNM_018075.5(ANO10):c.1012G>A (p.Asp338Asn)Autosomal recessive spinocerebellar ataxia 10 [RCV000296386]|not provided [RCV001495302]likely benign|uncertain significance34357684243576842Human1name
11597326CV294459single nucleotide variantNM_018075.5(ANO10):c.1628G>A (p.Arg543His)Autosomal recessive spinocerebellar ataxia 10 [RCV000392732]uncertain significance34355531843555318Human1name
11594899CV294460single nucleotide variantNM_018075.5(ANO10):c.1559C>T (p.Ala520Val)Autosomal recessive spinocerebellar ataxia 10 [RCV000364208]|not provided [RCV001418862]likely benign|conflicting interpretations of pathogenicity|uncertain significance34355538743555387Human1name
11590293CV294463single nucleotide variantNM_018075.5(ANO10):c.1133G>A (p.Arg378Gln)ANO10-related disorder [RCV003922508]|Autosomal recessive spinocerebellar ataxia 10 [RCV000764506]|not provided [RCV000710538]|not specified [RCV001643046]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance34357672143576721Human1name , trait , alternate_id
11587489CV294862single nucleotide variantNM_018075.5(ANO10):c.1864A>G (p.Met622Val)Autosomal recessive spinocerebellar ataxia 10 [RCV000295590]|Inborn genetic diseases [RCV003298402]|not provided [RCV001660718]likely benign|uncertain significance34343266143432661Human2name
11593842CV294866single nucleotide variantNM_018075.5(ANO10):c.1817A>G (p.Lys606Arg)Autosomal recessive spinocerebellar ataxia 10 [RCV000352819]uncertain significance34343270843432708Human1name
405164522CV3018155single nucleotide variantNM_018075.5(ANO10):c.1646C>G (p.Ser549Ter)not provided [RCV003704178]pathogenic34355530043555300Humanname
405169712CV3122342single nucleotide variantNM_018075.5(ANO10):c.1132C>T (p.Arg378Ter)not provided [RCV003818931]pathogenic34357672243576722Humanname
405185194CV3138653single nucleotide variantNM_018075.5(ANO10):c.1244C>G (p.Ser415Ter)Autosomal recessive spinocerebellar ataxia 10 [RCV005038563]|not provided [RCV003842865]pathogenic34356570243565702Human1name
405260999CV3186009single nucleotide variantNM_018075.5(ANO10):c.1021G>C (p.Val341Leu)not provided [RCV003885085]uncertain significance34357683343576833Humanname
405695340CV3282469single nucleotide variantNM_018075.5(ANO10):c.1013A>C (p.Asp338Ala)Inborn genetic diseases [RCV004424430]|not provided [RCV005000499]uncertain significance34357684143576841Human1name
405695345CV3282470single nucleotide variantNM_018075.5(ANO10):c.1043A>G (p.Glu348Gly)Inborn genetic diseases [RCV004424431]uncertain significance34357681143576811Human1name
405695352CV3282471single nucleotide variantNM_018075.5(ANO10):c.1264G>A (p.Val422Ile)Inborn genetic diseases [RCV004424432]uncertain significance34356568243565682Human1name
405695356CV3282472single nucleotide variantNM_018075.5(ANO10):c.1351C>G (p.Leu451Val)Inborn genetic diseases [RCV004424433]uncertain significance34356134543561345Human1name
405695363CV3282473single nucleotide variantNM_018075.5(ANO10):c.1535C>T (p.Ser512Phe)Inborn genetic diseases [RCV004424434]uncertain significance34355541143555411Human1name
405695374CV3282475single nucleotide variantNM_018075.5(ANO10):c.1801G>A (p.Ala601Thr)Inborn genetic diseases [RCV004424436]uncertain significance34343272443432724Human1name
405695379CV3282476single nucleotide variantNM_018075.5(ANO10):c.1837A>G (p.Ile613Val)Inborn genetic diseases [RCV004424437]uncertain significance34343268843432688Human1name
407457074CV3416045single nucleotide variantNM_018075.5(ANO10):c.1262T>C (p.Phe421Ser)not provided [RCV004598922]uncertain significance34356568443565684Humanname
407489102CV3458304single nucleotide variantNM_018075.5(ANO10):c.1301C>T (p.Ala434Val)Inborn genetic diseases [RCV004641280]uncertain significance34356139543561395Human1name
407521239CV3458315single nucleotide variantNM_018075.5(ANO10):c.1927G>A (p.Val643Met)Inborn genetic diseases [RCV004652464]uncertain significance34336696243366962Human1name
407489041CV3458336single nucleotide variantNM_018075.5(ANO10):c.1652A>G (p.Asn551Ser)Inborn genetic diseases [RCV004641291]likely benign34355529443555294Human1name
596929863CV3538630single nucleotide variantNM_018075.5(ANO10):c.1736A>C (p.Gln579Pro)not provided [RCV004792099]uncertain significance34354978143549781Humanname
596927587CV3541137single nucleotide variantNM_018075.5(ANO10):c.1735C>T (p.Gln579Ter)Autosomal recessive spinocerebellar ataxia 10 [RCV004797008]likely pathogenic34354978243549782Human1name
596943613CV3544306single nucleotide variantNM_018075.5(ANO10):c.1664G>C (p.Trp555Ser)not specified [RCV004800786]uncertain significance34355528243555282Humanname
597710197CV3554945single nucleotide variantNM_018075.5(ANO10):c.1769A>T (p.Asp590Val)Inborn genetic diseases [RCV004958955]uncertain significance34354974843549748Human1name
597710210CV3554953single nucleotide variantNM_018075.5(ANO10):c.1054T>A (p.Ser352Thr)Inborn genetic diseases [RCV004958957]uncertain significance34357680043576800Human1name
597710216CV3554960single nucleotide variantNM_018075.5(ANO10):c.1795G>C (p.Glu599Gln)Inborn genetic diseases [RCV004958958]uncertain significance34354972243549722Human1name
597710228CV3554977single nucleotide variantNM_018075.5(ANO10):c.1223A>T (p.Asn408Ile)Inborn genetic diseases [RCV004958960]uncertain significance34356572343565723Human1name
597710242CV3554987single nucleotide variantNM_018075.5(ANO10):c.1280A>C (p.Lys427Thr)Inborn genetic diseases [RCV004958962]uncertain significance34356566643565666Human1name
597710262CV3555005single nucleotide variantNM_018075.5(ANO10):c.1094T>C (p.Ile365Thr)Inborn genetic diseases [RCV004958965]uncertain significance34357676043576760Human1name
597652013CV3730605single nucleotide variantNM_018075.5(ANO10):c.1471T>G (p.Tyr491Asp)not provided [RCV005000895]uncertain significance34356122543561225Humanname
598213907CV3993744single nucleotide variantNM_018075.5(ANO10):c.1289G>A (p.Arg430His)Inborn genetic diseases [RCV005378445]uncertain significance34356565743565657Human1name
598179792CV3993745single nucleotide variantNM_018075.5(ANO10):c.1694T>C (p.Ile565Thr)Inborn genetic diseases [RCV005372001]uncertain significance34354982343549823Human1name
598213916CV3993747single nucleotide variantNM_018075.5(ANO10):c.1687A>T (p.Ser563Cys)Inborn genetic diseases [RCV005378447]uncertain significance34354983043549830Human1name
8602415CV40014single nucleotide variantNM_018075.5(ANO10):c.1529T>G (p.Leu510Arg)Autosomal recessive spinocerebellar ataxia 10 [RCV000024051]pathogenic34355541743555417Human1name
616933056CV4012638single nucleotide variantNM_018075.5(ANO10):c.1162G>A (p.Glu388Lys)Autosomal recessive spinocerebellar ataxia 10 [RCV005410098]uncertain significance34357669243576692Human1name
617152855CV4018444single nucleotide variantNM_018075.5(ANO10):c.1162G>T (p.Glu388Ter)Autosomal recessive spinocerebellar ataxia 10 [RCV005418704]pathogenic34357669243576692Human1name
13477213CV440786single nucleotide variantNM_018075.5(ANO10):c.1715C>T (p.Ala572Val)not specified [RCV000516307]uncertain significance34354980243549802Humanname
13484144CV440787single nucleotide variantNM_018075.5(ANO10):c.1715C>A (p.Ala572Glu)not provided [RCV005000071]uncertain significance34354980243549802Humanname
13481162CV440788single nucleotide variantNM_018075.5(ANO10):c.1688G>A (p.Ser563Asn)not specified [RCV000517492]uncertain significance34354982943549829Humanname
13808119CV576734single nucleotide variantNM_018075.5(ANO10):c.1315A>G (p.Thr439Ala)not provided [RCV000710539]uncertain significance34356138143561381Humanname
14702811CV653860single nucleotide variantNM_018075.5(ANO10):c.1537T>C (p.Cys513Arg)Autosomal recessive spinocerebellar ataxia 10 [RCV000824896]likely pathogenic34355540943555409Human1name
15119551CV748270single nucleotide variantNM_018075.5(ANO10):c.1954A>G (p.Met652Val)ANO10-related disorder [RCV003923251]|Autosomal recessive spinocerebellar ataxia 10 [RCV001147834]|not provided [RCV000918162]|not specified [RCV001644862]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance34336693543366935Human1name , trait , alternate_id
21072735CV793009single nucleotide variantNM_018075.5(ANO10):c.1724G>A (p.Gly575Glu)not provided [RCV000991523]uncertain significance34354979343549793Humanname
21068554CV795431single nucleotide variantNM_018075.5(ANO10):c.1627C>T (p.Arg543Cys)not provided [RCV000998061]uncertain significance34355531943555319Humanname
21074726CV798534single nucleotide variantNM_018075.5(ANO10):c.1025G>A (p.Trp342Ter)Autosomal recessive spinocerebellar ataxia 10 [RCV000995493]|not provided [RCV003769342]pathogenic34357682943576829Human1name
28880602CV888897single nucleotide variantNM_018075.5(ANO10):c.1643C>A (p.Pro548His)Autosomal recessive spinocerebellar ataxia 10 [RCV001149373]|Inborn genetic diseases [RCV004649466]uncertain significance34355530343555303Human2name
28880605CV888898single nucleotide variantNM_018075.5(ANO10):c.1493A>G (p.Tyr498Cys)Autosomal recessive spinocerebellar ataxia 10 [RCV001149374]uncertain significance34355545343555453Human1name
28869796CV888900single nucleotide variantNM_018075.5(ANO10):c.1288C>T (p.Arg430Cys)ANO10-related disorder [RCV003945867]|Autosomal recessive spinocerebellar ataxia 10 [RCV001145079]likely benign|uncertain significance34356565843565658Human1name , trait , alternate_id
28874056CV888901single nucleotide variantNM_018075.5(ANO10):c.1277T>C (p.Met426Thr)Autosomal recessive spinocerebellar ataxia 10 [RCV001147034]|Inborn genetic diseases [RCV003246725]uncertain significance34356566943565669Human2name
40889246CV975108single nucleotide variantNM_018075.5(ANO10):c.1009T>G (p.Phe337Val)Autosomal recessive spinocerebellar ataxia 10 [RCV001644964]|not provided [RCV001267936]pathogenic|likely pathogenic34357684543576845Human1name
41405973CV982499single nucleotide variantNM_018075.5(ANO10):c.1050C>A (p.Ser350Arg)not provided [RCV001287976]uncertain significance34357680443576804Humanname
151353380CV1326482duplicationNM_018075.5(ANO10):c.131_132dup (p.Asp45fs)not provided [RCV001816346]pathogenic34360572043605721Humanname
405206723CV2994370deletionNM_018075.5(ANO10):c.269_270del (p.Lys90fs)not provided [RCV003678832]pathogenic34360045143600452Humanname
402521448CV3005042duplicationNM_018075.5(ANO10):c.818_819dup (p.Thr274fs)not provided [RCV003690328]pathogenic34357703443577035Humanname
405146864CV3024049deletionNM_018075.5(ANO10):c.432_439del (p.Gly145fs)not provided [RCV003702996]pathogenic34359856543598572Humanname
13481677CV440794deletionNM_018075.5(ANO10):c.343_345del (p.Asn115del)not specified [RCV000517644]uncertain significance34359865943598661Humanname
155801140CV1864059deletionNM_018075.5(ANO10):c.1179_1180del (p.Glu393fs)not provided [RCV002474483]likely pathogenic34357484743574848Humanname
402481879CV3001210deletionNM_018075.5(ANO10):c.1349_1350del (p.Phe450fs)not provided [RCV003686677]pathogenic34356134643561347Humanname
405189214CV3149540microsatelliteNM_018075.5(ANO10):c.1248_1249del (p.Phe417fs)not provided [RCV003843266]pathogenic34356569743565698Humanname
597716645CV3717491deletionNM_018075.5(ANO10):c.1121_1145del (p.Asn374fs)Autosomal recessive spinocerebellar ataxia 10 [RCV005035319]|not provided [RCV005112824]pathogenic|likely pathogenic34357670943576733Human1name
8568759CV40015deletionNM_018075.5(ANO10):c.1150_1151del (p.Leu384fs)Autosomal recessive spinocerebellar ataxia 10 [RCV000024052]|not provided [RCV001268891]pathogenic34357670343576704Human1name
13520836CV495191deletionNM_018075.5(ANO10):c.289del (p.Thr96_Met97insTer)Autosomal recessive spinocerebellar ataxia 10 [RCV001644702]|not provided [RCV000598963]pathogenic|likely pathogenic34360043243600432Human1name
13808027CV576737duplicationNM_018075.5(ANO10):c.158_169dup (p.Arg53_Leu56dup)not provided [RCV000710540]uncertain significance34360055143600552Humanname
8568761CV40017deletionNM_018075.5(ANO10):c.1604del (p.Ala534_Leu535insTer)Autosomal recessive spinocerebellar ataxia 10 [RCV000024054]pathogenic34355534243555342Human1name