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


574 records found for search term Ano3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150434542CV1233335single nucleotide variantNM_031418.4(ANO3):c.*9T>Cnot provided [RCV001643761]benign112666045326660453Humanname
150422663CV1180817single nucleotide variantNM_031418.4(ANO3):c.-54C>Tnot provided [RCV001552942]likely benign112633222226332222Humanname
150509735CV1247396single nucleotide variantNM_031418.4(ANO3):c.-12C>Tnot provided [RCV001659423]benign112633226426332264Humanname
150472403CV1259289single nucleotide variantNM_031418.4(ANO3):c.*43G>Anot provided [RCV001684535]benign112666048726660487Humanname
150456097CV1278452single nucleotide variantNM_031418.1(ANO3):c.-262C=not provided [RCV001709067]benign112633201426332014Humanname
150426518CV1187733single nucleotide variantNM_031418.4(ANO3):c.-143G>Anot provided [RCV001559676]likely benign112633213326332133Humanname
150405487CV1191215single nucleotide variantNM_031418.4(ANO3):c.*192C>Tnot provided [RCV001564304]likely benign112666063626660636Humanname
150462788CV1234963single nucleotide variantNM_031418.1(ANO3):c.-180T>Anot provided [RCV001649545]benign112633209626332096Humanname
150492151CV1238120single nucleotide variantNM_031418.1(ANO3):c.-386C>Gnot provided [RCV001654966]benign112633189026331890Humanname
405172867CV2920640single nucleotide variantNM_031418.4(ANO3):c.46+3C>TDystonic disorder [RCV003587781]uncertain significance112633232426332324Human2name
127337762CV1142186single nucleotide variantNM_031418.4(ANO3):c.314-4A>GDystonic disorder [RCV001493046]likely benign112646302626463026Human2name
150336794CV1165989single nucleotide variantNM_031418.4(ANO3):c.432+4A>GDystonic disorder [RCV003746591]|not provided [RCV001532157]uncertain significance112646315226463152Human2name
150501197CV1238336single nucleotide variantNM_031418.4(ANO3):c.46+83G>TDystonia 24 [RCV002260261]|not provided [RCV001656766]benign112633240426332404Human1name , alternate_id
8652905CV129480single nucleotide variantNM_031418.2(ANO3):c.-1324C>TLung cancer [RCV000109967]uncertain significance112633095226330952Humanname
152083379CV1576797single nucleotide variantNM_031418.4(ANO3):c.242-2A>CDystonic disorder [RCV002193314]likely benign112644376326443763Human2name
405249103CV2972411single nucleotide variantNM_031418.4(ANO3):c.692+1G>ADystonic disorder [RCV003746989]uncertain significance112651692826516928Human2name
405249456CV2978509single nucleotide variantNM_031418.4(ANO3):c.433-4G>TDystonic disorder [RCV003747134]likely benign112650810026508100Human2name
597911437CV3778262single nucleotide variantNM_031418.4(ANO3):c.869+7T>ADystonic disorder [RCV005128801]likely benign112653134326531343Human2name
597895439CV3810398single nucleotide variantNM_031418.4(ANO3):c.432+8G>ADystonic disorder [RCV005151923]likely benign112646315626463156Human2name
12883155CV398165single nucleotide variantNM_031418.4(ANO3):c.977-6T>CDystonia 24 [RCV002259952]|Dystonic disorder [RCV000461058]|not provided [RCV001597143]benign112653740026537400Human3name , alternate_id
13612542CV526116single nucleotide variantNM_031418.4(ANO3):c.47-10G>CDystonic disorder [RCV000630730]likely benign112644190826441908Human2name
14703198CV652184single nucleotide variantNM_031418.4(ANO3):c.591+4G>CDystonic disorder [RCV000792653]uncertain significance112650826626508266Human2name
15116726CV685284duplicationNM_031418.4(ANO3):c.693-4dupDystonic disorder [RCV001454101]likely benign112652562526525626Human2name
15123271CV685285single nucleotide variantNM_031418.4(ANO3):c.870-7T>CDystonia 24 [RCV002260075]|Dystonic disorder [RCV000862209]|not provided [RCV001637999]benign112653444926534449Human3name , alternate_id
127260431CV1078148single nucleotide variantNM_031418.4(ANO3):c.1672-9A>CDystonic disorder [RCV001420049]likely benign112659954126599541Human2name
127314428CV1121322single nucleotide variantNM_031418.4(ANO3):c.2428+9C>TDystonic disorder [RCV001457676]likely benign112664334326643343Human2name
127290765CV1156686single nucleotide variantNM_031418.4(ANO3):c.1671+9T>CDystonia 24 [RCV002260152]|Dystonic disorder [RCV001509983]|not provided [RCV001619909]benign112659900726599007Human3name , alternate_id
150335394CV1172243single nucleotide variantNM_031418.4(ANO3):c.977-80T>CDystonia 24 [RCV002260190]|not provided [RCV001540540]benign112653732626537326Human1name , alternate_id
150452931CV1205589duplicationNM_031418.4(ANO3):c.313+88dupnot provided [RCV001585490]likely benign112644391426443915Humanname
150441205CV1246699single nucleotide variantNM_031418.4(ANO3):c.591+91G>Cnot provided [RCV001666353]benign112650835326508353Humanname
150444035CV1249359single nucleotide variantNM_031418.4(ANO3):c.738-56T>ADystonia 24 [RCV002260284]|not provided [RCV001666791]benign112653114926531149Human1name , alternate_id
150507080CV1256842deletionNM_031418.4(ANO3):c.1290-7delDystonia 24 [RCV002260305]|Dystonic disorder [RCV002073184]|not provided [RCV001678345]benign|likely benign112655323726553237Human3name , alternate_id
150469519CV1259672single nucleotide variantNM_031418.4(ANO3):c.738-73T>ADystonia 24 [RCV002260309]|not provided [RCV001683973]benign112653113226531132Human1name , alternate_id
150455047CV1261089deletionNM_031418.4(ANO3):c.46+139delnot provided [RCV001681287]benign112633244526332445Humanname
150485591CV1262125single nucleotide variantNM_031418.4(ANO3):c.314-81G>Cnot provided [RCV001686816]benign112646294926462949Humanname
150462827CV1263716single nucleotide variantNM_031418.4(ANO3):c.738-50T>CDystonia 24 [RCV002260333]|not provided [RCV001682417]benign112653115526531155Human1name , alternate_id
150459397CV1264012duplicationNM_031418.4(ANO3):c.46+139dupnot provided [RCV001681927]benign112633244426332445Humanname
151886826CV1455288single nucleotide variantNM_031418.4(ANO3):c.2658-3C>TDystonic disorder [RCV002038057]uncertain significance112665637326656373Human2name
151787998CV1510130single nucleotide variantNM_031418.4(ANO3):c.2764-5T>GANO3-related disorder [RCV003976261]|Dystonic disorder [RCV001916530]|not provided [RCV004693944]likely benign|uncertain significance112666025726660257Human3name , trait , alternate_id
152050708CV1527811single nucleotide variantNM_031418.4(ANO3):c.1386+7G>ADystonic disorder [RCV002089119]likely benign112655335226553352Human2name
152079753CV1666838single nucleotide variantNM_031418.4(ANO3):c.2141+1G>ADystonic disorder [RCV003089116]|not provided [RCV002211183]uncertain significance112663924226639242Human2name
156149448CV1878868single nucleotide variantNM_031418.4(ANO3):c.869+19T>ADystonic disorder [RCV003056478]likely benign112653135526531355Human2name
156148490CV1932434single nucleotide variantNM_031418.4(ANO3):c.2276-6T>CDystonic disorder [RCV002623918]uncertain significance112664317626643176Human2name
156331755CV1966561single nucleotide variantNM_031418.4(ANO3):c.241+18T>CDystonic disorder [RCV002600833]likely benign112644213026442130Human2name
156003412CV2014872single nucleotide variantNM_031418.4(ANO3):c.1033-9C>GDystonic disorder [RCV002690162]benign112654193826541938Human2name
156167060CV2019784single nucleotide variantNM_031418.4(ANO3):c.2576+9T>GDystonic disorder [RCV002710371]likely benign112664786526647865Human2name
156009516CV2045351single nucleotide variantNM_031418.4(ANO3):c.1447+5G>ADystonic disorder [RCV002780063]uncertain significance112655978426559784Human2name
155915590CV2063131single nucleotide variantNM_031418.4(ANO3):c.738-11C>ADystonic disorder [RCV002838035]likely benign112653119426531194Human2name
156162373CV2096940single nucleotide variantNM_031418.4(ANO3):c.592-17C>TDystonic disorder [RCV002872709]likely benign112651681026516810Human2name
156192807CV2099067single nucleotide variantNM_031418.4(ANO3):c.592-12T>CDystonic disorder [RCV002917505]benign112651681526516815Human2name
156135843CV2105709single nucleotide variantNM_031418.4(ANO3):c.870-13C>TDystonic disorder [RCV002914721]likely benign112653444326534443Human2name
156030469CV2117361single nucleotide variantNM_031418.4(ANO3):c.693-14T>CDystonic disorder [RCV002923492]likely benign112652562126525621Human2name
156358119CV2162186single nucleotide variantNM_031418.4(ANO3):c.2577-2A>GDystonic disorder [RCV003031373]uncertain significance112665612326656123Human2name
156166615CV2169663single nucleotide variantNM_031418.4(ANO3):c.2276-3C>TDystonic disorder [RCV003023385]uncertain significance112664317926643179Human2name
405158301CV2860888single nucleotide variantNM_031418.4(ANO3):c.1386+6T>GDystonic disorder [RCV003586493]uncertain significance112655335126553351Human2name
405160670CV2863215single nucleotide variantNM_031418.4(ANO3):c.977-14T>ADystonic disorder [RCV003586705]likely benign112653739226537392Human2name
405170259CV2902984single nucleotide variantNM_031418.4(ANO3):c.1386+3G>ADystonic disorder [RCV003587530]uncertain significance112655334826553348Human2name
405248146CV2942662single nucleotide variantNM_031418.4(ANO3):c.2576+6G>TDystonic disorder [RCV003746689]uncertain significance112664786226647862Human2name
405249272CV2976910single nucleotide variantNM_031418.4(ANO3):c.1531-9C>TDystonic disorder [RCV003747044]likely benign112659884926598849Human2name
405250483CV3063038single nucleotide variantNM_031418.4(ANO3):c.870-17T>CDystonic disorder [RCV003747548]likely benign112653443926534439Human2name
405250198CV3063431deletionNM_031418.4(ANO3):c.976+20delDystonic disorder [RCV003747448]likely benign112653458126534581Human2name
405250604CV3071212single nucleotide variantNM_031418.4(ANO3):c.737+12A>GDystonic disorder [RCV003747599]uncertain significance112652569126525691Human2name
402470062CV3171055single nucleotide variantNM_031418.4(ANO3):c.2043+1G>ADystonic disorder [RCV003874018]uncertain significance112663507126635071Human2name
404981846CV3179627single nucleotide variantNM_031418.4(ANO3):c.433-18T>CDystonic disorder [RCV003880608]likely benign112650808626508086Human2name
404982257CV3184177single nucleotide variantNM_031418.4(ANO3):c.1155-3C>TDystonic disorder [RCV003880669]uncertain significance112654741326547413Human2name
405269497CV3201683single nucleotide variantNM_031418.4(ANO3):c.1154+4C>TANO3-related disorder [RCV003899590]likely benign112654207226542072Humanname , trait , alternate_id
408393766CV3519915single nucleotide variantNM_031418.4(ANO3):c.2657+1G>Tnot provided [RCV004764211]uncertain significance112665620626656206Humanname
597918077CV3842070single nucleotide variantNM_031418.4(ANO3):c.242-19G>ADystonic disorder [RCV005183745]likely benign112644374626443746Human2name
13500475CV461800single nucleotide variantNM_031418.4(ANO3):c.1290-6C>TDystonic disorder [RCV000540433]|not provided [RCV001591191]likely benign112655324326553243Human2name
13497987CV461803single nucleotide variantNM_031418.4(ANO3):c.2043+9C>ADystonic disorder [RCV000538958]likely benign112663507926635079Human2name
15160421CV690002single nucleotide variantNM_031418.4(ANO3):c.1033-4G>Tnot provided [RCV000869010]likely benign112654194326541943Humanname
15154021CV690003single nucleotide variantNM_031418.4(ANO3):c.1531-3T>CDystonic disorder [RCV001518788]benign112659885526598855Human2name
15135780CV690004single nucleotide variantNM_031418.4(ANO3):c.2429-9T>CDystonic disorder [RCV005092557]likely benign112664770026647700Human2name
126730900CV1030180single nucleotide variantNM_031418.4(ANO3):c.2658-10T>CDystonic disorder [RCV001349339]likely benign|uncertain significance112665636626656366Human2name
150336045CV1165031single nucleotide variantNM_031418.4(ANO3):c.2142-49A>GDystonia 24 [RCV002260174]|not provided [RCV001530665]benign112664184726641847Human1name , alternate_id
150333933CV1169456single nucleotide variantNM_031418.4(ANO3):c.869+226C>Tnot provided [RCV001537541]likely benign112653156226531562Humanname
150331031CV1172245single nucleotide variantNM_031418.4(ANO3):c.2043+97C>GDystonia 24 [RCV002260183]|not provided [RCV001538436]benign112663516726635167Human1name , alternate_id
150332019CV1172246single nucleotide variantNM_031418.4(ANO3):c.2429-89A>Cnot provided [RCV001538872]benign112664762026647620Humanname
150330536CV1172247single nucleotide variantNM_031418.4(ANO3):c.2657+44A>TDystonia 24 [RCV002260182]|not provided [RCV001538137]benign|likely benign112665624926656249Human1name , alternate_id
150409097CV1177445duplicationNM_031418.4(ANO3):c.1290-20dupnot provided [RCV001546126]likely benign112655322426553225Humanname
150420549CV1180818single nucleotide variantNM_031418.4(ANO3):c.432+165A>Gnot provided [RCV001551599]likely benign112646331326463313Humanname
150422370CV1180819deletionNM_031418.4(ANO3):c.1290-14delDystonia 24 [RCV002260195]|Dystonic disorder [RCV002072054]|not provided [RCV001552538]benign|likely benign112655323126553231Human3name , alternate_id
150429112CV1187734single nucleotide variantNM_031418.4(ANO3):c.692+148T>Cnot provided [RCV001563172]likely benign112651707526517075Humanname
150427997CV1187735single nucleotide variantNM_031418.4(ANO3):c.693-154C>Tnot provided [RCV001561672]likely benign112652548126525481Humanname
150426431CV1187737single nucleotide variantNM_031418.4(ANO3):c.2576+80T>Cnot provided [RCV001559576]likely benign112664793626647936Humanname
150415471CV1191211single nucleotide variantNM_031418.4(ANO3):c.591+270A>Gnot provided [RCV001567999]likely benign112650853226508532Humanname
150417354CV1194489single nucleotide variantNM_031418.4(ANO3):c.1032+15C>TDystonia 24 [RCV002260205]|Dystonic disorder [RCV002072188]|not provided [RCV001568731]benign|likely benign112653747626537476Human3name , alternate_id
150404687CV1194491single nucleotide variantNM_031418.4(ANO3):c.1836+19A>GDystonia 24 [RCV002260206]|Dystonic disorder [RCV002072217]|not provided [RCV001571290]benign|likely benign112659973326599733Human3name , alternate_id
150415684CV1198196single nucleotide variantNM_031418.4(ANO3):c.314-276G>Anot provided [RCV001575510]likely benign112646275426462754Humanname
150421057CV1198197single nucleotide variantNM_031418.4(ANO3):c.737+119G>Tnot provided [RCV001577877]likely benign112652579826525798Humanname
150495524CV1205028single nucleotide variantNM_031418.4(ANO3):c.693-113A>Gnot provided [RCV001593520]likely benign112652552226525522Humanname
150468806CV1207467single nucleotide variantNM_031418.4(ANO3):c.1290-13G>ADystonic disorder [RCV002070449]|not provided [RCV001588156]likely benign112655323626553236Human2name
150490237CV1208579single nucleotide variantNM_031418.4(ANO3):c.591+243G>Anot provided [RCV001592440]likely benign112650850526508505Humanname
150499024CV1209016single nucleotide variantNM_031418.4(ANO3):c.1985+28C>Tnot provided [RCV001594233]likely benign112663434326634343Humanname
150491995CV1210457single nucleotide variantNM_031418.4(ANO3):c.1290-44T>Cnot provided [RCV001592739]likely benign112655320526553205Humanname
150507394CV1211164single nucleotide variantNM_031418.4(ANO3):c.693-195A>Gnot provided [RCV001596283]benign112652544026525440Humanname
150514722CV1212110single nucleotide variantNM_031418.4(ANO3):c.738-305A>Cnot provided [RCV001599179]benign112653090026530900Humanname
150508479CV1214055single nucleotide variantNM_031418.4(ANO3):c.433-126C>Tnot provided [RCV001596576]likely benign112650797826507978Humanname
150485582CV1223026single nucleotide variantNM_031418.4(ANO3):c.869+174G>Anot provided [RCV001617739]benign112653151026531510Humanname
150462016CV1231550single nucleotide variantNM_031418.4(ANO3):c.692+163C>Tnot provided [RCV001641117]benign112651709026517090Humanname
150460300CV1236229single nucleotide variantNM_031418.4(ANO3):c.1874-93G>Anot provided [RCV001649200]benign112663411126634111Humanname
150463894CV1237698single nucleotide variantNM_031418.4(ANO3):c.737+122G>Anot provided [RCV001649704]benign112652580126525801Humanname
150500645CV1238219single nucleotide variantNM_031418.4(ANO3):c.692+300G>Anot provided [RCV001656649]benign112651722726517227Humanname
150503667CV1241851single nucleotide variantNM_031418.4(ANO3):c.976+286G>Anot provided [RCV001657443]benign112653484826534848Humanname
150435617CV1244465deletionNM_031418.4(ANO3):c.1290-13delDystonia 24 [RCV002260270]|Dystonic disorder [RCV002073059]|not provided [RCV001665456]benign112655323626553236Human3name , alternate_id
150485347CV1250209single nucleotide variantNM_031418.4(ANO3):c.1448-40T>CDystonia 24 [RCV002260282]|not provided [RCV001673822]benign112659832526598325Human1name , alternate_id
150445984CV1250598single nucleotide variantNM_031418.4(ANO3):c.1154+37T>GDystonia 24 [RCV002260291]|not provided [RCV001667102]benign112654210526542105Human1name , alternate_id
150472607CV1252272duplicationNM_031418.4(ANO3):c.592-143dupnot provided [RCV001671473]benign112651667626516677Humanname
150452863CV1255020single nucleotide variantNM_031418.4(ANO3):c.1033-30A>TDystonia 24 [RCV002260295]|not provided [RCV001668079]benign112654191726541917Human1name , alternate_id
150471032CV1258723single nucleotide variantNM_031418.4(ANO3):c.592-255G>Tnot provided [RCV001684269]benign112651657226516572Humanname
150452206CV1260362single nucleotide variantNM_031418.4(ANO3):c.592-307C>Tnot provided [RCV001680852]benign112651652026516520Humanname
150449310CV1260804single nucleotide variantNM_031418.4(ANO3):c.2043+35G>Anot provided [RCV001680473]benign112663510526635105Humanname
150473089CV1262843single nucleotide variantNM_031418.4(ANO3):c.977-112G>Anot provided [RCV001684659]benign112653729426537294Humanname
150483867CV1263061single nucleotide variantNM_031418.4(ANO3):c.692+274G>Anot provided [RCV001686461]benign112651720126517201Humanname
150488692CV1265288deletionNM_031418.4(ANO3):c.1290-19delDystonia 24 [RCV002260329]|Dystonic disorder [RCV002073217]|not provided [RCV001687324]benign112655323026553230Human3name , alternate_id
150468329CV1267921single nucleotide variantNM_031418.4(ANO3):c.1290-25G>TDystonia 24 [RCV002260339]|not provided [RCV001694784]benign112655322426553224Human1name , alternate_id
150496712CV1271600single nucleotide variantNM_031418.4(ANO3):c.1290-19G>TDystonia 24 [RCV002260348]|Dystonic disorder [RCV002073246]|not provided [RCV001688901]benign112655323026553230Human3name , alternate_id
150461698CV1275988single nucleotide variantNM_031418.4(ANO3):c.313+117G>Anot provided [RCV001709926]benign112644395326443953Humanname
150445314CV1278131single nucleotide variantNM_031418.4(ANO3):c.1290-56T>CDystonia 24 [RCV002260372]|not provided [RCV001707274]benign112655319326553193Human1name , alternate_id
150447776CV1278368single nucleotide variantNM_031418.4(ANO3):c.1290-13G>TDystonia 24 [RCV002260373]|Dystonic disorder [RCV002073316]|not provided [RCV001707882]benign112655323626553236Human3name , alternate_id
150457597CV1278649single nucleotide variantNM_031418.4(ANO3):c.976+145A>Gnot provided [RCV001709264]benign112653470726534707Humanname
150476572CV1279281single nucleotide variantNM_031418.4(ANO3):c.693-197G>Anot provided [RCV001714002]benign112652543826525438Humanname
150483756CV1280279single nucleotide variantNM_031418.4(ANO3):c.2658-56T>CDystonia 24 [RCV002260377]|not provided [RCV001715241]benign112665632026656320Human1name , alternate_id
150484556CV1280499single nucleotide variantNM_031418.4(ANO3):c.737+127T>Gnot provided [RCV001715406]benign112652580626525806Humanname
150539054CV1295010single nucleotide variantNM_031418.4(ANO3):c.1874-21T>Anot provided [RCV001764971]benign112663418326634183Humanname
152175786CV1527201single nucleotide variantNM_031418.4(ANO3):c.2141+12A>GDystonic disorder [RCV002163923]likely benign112663925326639253Human2name
152093261CV1584726duplicationNM_031418.4(ANO3):c.2275+20dupDystonia 24 [RCV002260417]|Dystonic disorder [RCV002114364]benign112664204826642049Human3name , alternate_id
152121767CV1662291duplicationNM_031418.4(ANO3):c.1290-14dupDystonic disorder [RCV002117939]benign112655323026553231Human2name
156012591CV1880599single nucleotide variantNM_031418.4(ANO3):c.1671+17G>ADystonic disorder [RCV003077177]likely benign112659901526599015Human2name
156388986CV1888430single nucleotide variantNM_031418.4(ANO3):c.2576+16A>GDystonic disorder [RCV003067816]likely benign112664787226647872Human2name
156402517CV1889361single nucleotide variantNM_031418.4(ANO3):c.1874-11G>ADystonic disorder [RCV003069301]likely benign112663419326634193Human2name
156015833CV1912787single nucleotide variantNM_031418.4(ANO3):c.1874-20G>ADystonic disorder [RCV002619138]benign112663418426634184Human2name
156371256CV1923569single nucleotide variantNM_031418.4(ANO3):c.1154+13G>ADystonic disorder [RCV002633405]likely benign112654208126542081Human2name
155958960CV2040329single nucleotide variantNM_031418.4(ANO3):c.1387-18T>CDystonic disorder [RCV002776167]likely benign112655970126559701Human2name
156291929CV2055362single nucleotide variantNM_031418.4(ANO3):c.1986-20A>GDystonic disorder [RCV002833241]likely benign112663499326634993Human2name
156331475CV2061375single nucleotide variantNM_031418.4(ANO3):c.2275+19C>GDystonic disorder [RCV002810704]likely benign112664204826642048Human2name
155918693CV2102246single nucleotide variantNM_031418.4(ANO3):c.2428+12A>TDystonic disorder [RCV002903235]likely benign112664334626643346Human2name
156114373CV2136345single nucleotide variantNM_031418.4(ANO3):c.2275+20A>GDystonic disorder [RCV003002725]likely benign112664204926642049Human2name
155942542CV2143060single nucleotide variantNM_031418.4(ANO3):c.2657+16A>GDystonic disorder [RCV002994149]likely benign112665622126656221Human2name
329955084CV2671025single nucleotide variantNM_031418.4(ANO3):c.1448-18C>Tnot specified [RCV003236294]uncertain significance112659834726598347Humanname
405163918CV2869466single nucleotide variantNM_031418.4(ANO3):c.1290-14T>GDystonic disorder [RCV003586967]likely benign112655323526553235Human2name
405161726CV2878420single nucleotide variantNM_031418.4(ANO3):c.2577-20A>GDystonic disorder [RCV003586792]benign112665610526656105Human2name
405172698CV2914044single nucleotide variantNM_031418.4(ANO3):c.1290-17T>GDystonic disorder [RCV003587761]likely benign112655323226553232Human2name
405248210CV2936812duplicationNM_031418.4(ANO3):c.2275+14dupDystonic disorder [RCV003746707]benign112664203526642036Human2name
405249425CV2985351single nucleotide variantNM_031418.4(ANO3):c.1837-18T>CDystonic disorder [RCV003747121]likely benign112662444426624444Human2name
405250140CV3009183single nucleotide variantNM_031418.4(ANO3):c.1531-13G>ADystonic disorder [RCV003747423]likely benign112659884526598845Human2name
405246772CV3014359single nucleotide variantNM_031418.4(ANO3):c.2275+14A>TDystonic disorder [RCV003746113]likely benign112664204326642043Human2name
405246995CV3019468single nucleotide variantNM_031418.4(ANO3):c.2577-11T>CDystonic disorder [RCV003746194]likely benign|uncertain significance112665611426656114Human2name
405247586CV3051261single nucleotide variantNM_031418.4(ANO3):c.2044-13T>CDystonic disorder [RCV003746428]likely benign112663913126639131Human2name
405250376CV3058599single nucleotide variantNM_031418.4(ANO3):c.2428+10G>ADystonic disorder [RCV003747500]likely benign112664334426643344Human2name
405250744CV3080910single nucleotide variantNM_031418.4(ANO3):c.2044-20G>ADystonic disorder [RCV003747680]likely benign112663912426639124Human2name
405250751CV3080948deletionNM_031418.4(ANO3):c.2275+14delDystonic disorder [RCV003747683]benign112664203626642036Human2name
405072917CV3145463single nucleotide variantNM_031418.4(ANO3):c.1448-11A>TDystonic disorder [RCV003851048]likely benign112659835426598354Human2name
402476300CV3173781single nucleotide variantNM_031418.4(ANO3):c.1874-13G>ADystonic disorder [RCV003875319]likely benign112663419126634191Human2name
597971965CV3798973single nucleotide variantNM_031418.4(ANO3):c.1671+16C>TDystonic disorder [RCV005142385]likely benign112659901426599014Human2name
597936200CV3807592single nucleotide variantNM_031418.4(ANO3):c.1290-20T>GDystonic disorder [RCV005157970]likely benign112655322926553229Human2name
597957686CV3814432single nucleotide variantNM_031418.4(ANO3):c.1671+19T>CDystonic disorder [RCV005162763]uncertain significance112659901726599017Human2name
597976365CV3829584single nucleotide variantNM_031418.4(ANO3):c.2657+10A>GDystonic disorder [RCV005169851]likely benign112665621526656215Human2name
597924615CV3863127single nucleotide variantNM_031418.4(ANO3):c.1290-18T>CDystonic disorder [RCV005205615]likely benign112655323126553231Human2name
150339485CV1167525single nucleotide variantNM_031418.4(ANO3):c.1837-226A>Gnot provided [RCV001534271]benign112662423626624236Humanname
150420968CV1180820single nucleotide variantNM_031418.4(ANO3):c.1672-199A>Gnot provided [RCV001551799]likely benign112659935126599351Humanname
150417300CV1180821single nucleotide variantNM_031418.4(ANO3):c.1873+135G>Anot provided [RCV001550059]likely benign112662463326624633Humanname
150427861CV1187738single nucleotide variantNM_031418.4(ANO3):c.2577-240A>Gnot provided [RCV001561489]likely benign112665588526655885Humanname
150405030CV1191213single nucleotide variantNM_031418.4(ANO3):c.1874-239C>Anot provided [RCV001564095]likely benign112663396526633965Humanname
150405884CV1191214single nucleotide variantNM_031418.4(ANO3):c.2043+279A>Tnot provided [RCV001564490]likely benign112663534926635349Humanname
150407426CV1194490single nucleotide variantNM_031418.4(ANO3):c.1448-206A>Tnot provided [RCV001572338]likely benign112659815926598159Humanname
150432537CV1200679single nucleotide variantNM_031418.4(ANO3):c.1837-180A>Cnot provided [RCV001581402]likely benign112662428226624282Humanname
150459378CV1202916single nucleotide variantNM_031418.4(ANO3):c.2429-308C>Tnot provided [RCV001586569]likely benign112664740126647401Humanname
150486797CV1203355single nucleotide variantNM_031418.4(ANO3):c.2141+258G>Cnot provided [RCV001591533]likely benign112663949926639499Humanname
150430824CV1204020single nucleotide variantNM_031418.4(ANO3):c.2764-308G>Anot provided [RCV001580795]likely benign112665995426659954Humanname
150461142CV1215769single nucleotide variantNM_031418.4(ANO3):c.1837-115A>Tnot provided [RCV001613471]benign112662434726624347Humanname
150447082CV1216058single nucleotide variantNM_031418.4(ANO3):c.1837-198A>Gnot provided [RCV001611356]benign112662426426624264Humanname
150515259CV1217433single nucleotide variantNM_031418.4(ANO3):c.2275+286T>Anot provided [RCV001608338]benign112664231526642315Humanname
150477969CV1218708single nucleotide variantNM_031418.4(ANO3):c.1290-166A>Gnot provided [RCV001616335]benign112655308326553083Humanname
150468526CV1218926single nucleotide variantNM_031418.4(ANO3):c.1986-190T>Cnot provided [RCV001614678]benign112663482326634823Humanname
150457754CV1219659single nucleotide variantNM_031418.4(ANO3):c.1448-254G>Anot provided [RCV001612875]benign112659811126598111Humanname
150451250CV1220836single nucleotide variantNM_031418.4(ANO3):c.1837-301T>Cnot provided [RCV001611930]benign112662416126624161Humanname
150438729CV1221205single nucleotide variantNM_031418.4(ANO3):c.2142-189T>Anot provided [RCV001609899]benign112664170726641707Humanname
150495072CV1225007single nucleotide variantNM_031418.4(ANO3):c.1447+198C>Tnot provided [RCV001619485]benign112655997726559977Humanname
150507081CV1226503deletionNM_031418.4(ANO3):c.1289+143delnot provided [RCV001635871]benign112654769326547693Humanname
150434195CV1230728single nucleotide variantNM_031418.4(ANO3):c.1874-109A>Tnot provided [RCV001643674]benign112663409526634095Humanname
150430347CV1230834single nucleotide variantNM_031418.4(ANO3):c.2142-190A>Tnot provided [RCV001641383]benign112664170626641706Humanname
150451683CV1232834single nucleotide variantNM_031418.4(ANO3):c.2142-145T>Anot provided [RCV001647909]benign112664175126641751Humanname
150463103CV1235007single nucleotide variantNM_031418.4(ANO3):c.1874-299C>Anot provided [RCV001649589]benign112663390526633905Humanname
150495133CV1241518single nucleotide variantNM_031418.4(ANO3):c.1033-312G>Anot provided [RCV001655525]benign112654163526541635Humanname
150485039CV1250146single nucleotide variantNM_031418.4(ANO3):c.1289+305G>Anot provided [RCV001673759]benign112654785526547855Humanname
150485515CV1250242single nucleotide variantNM_031418.4(ANO3):c.2576+193C>Tnot provided [RCV001673855]benign112664804926648049Humanname
150472106CV1252191single nucleotide variantNM_031418.4(ANO3):c.1290-205T>Anot provided [RCV001671392]benign112655304426553044Humanname
150473169CV1252363single nucleotide variantNM_031418.4(ANO3):c.1448-144G>Anot provided [RCV001671565]benign112659822126598221Humanname
150474809CV1252917single nucleotide variantNM_031418.4(ANO3):c.2275+295C>Tnot provided [RCV001671825]benign112664232426642324Humanname
150475045CV1252951single nucleotide variantNM_031418.4(ANO3):c.2576+151A>Gnot provided [RCV001671859]benign112664800726648007Humanname
150467785CV1255963single nucleotide variantNM_031418.4(ANO3):c.1874-298A>Gnot provided [RCV001670597]benign112663390626633906Humanname
150500884CV1256185single nucleotide variantNM_031418.4(ANO3):c.1033-313T>Cnot provided [RCV001676809]benign112654163426541634Humanname
150470893CV1258688single nucleotide variantNM_031418.4(ANO3):c.1530+107T>Cnot provided [RCV001684234]benign112659855426598554Humanname
150471708CV1259169single nucleotide variantNM_031418.4(ANO3):c.1289+143G>Tnot provided [RCV001684414]benign112654769326547693Humanname
150477484CV1262508single nucleotide variantNM_031418.4(ANO3):c.2043+131A>Cnot provided [RCV001685321]benign112663520126635201Humanname
150486601CV1262601single nucleotide variantNM_031418.4(ANO3):c.2142-139A>Tnot provided [RCV001686998]benign112664175726641757Humanname
150460773CV1264222single nucleotide variantNM_031418.4(ANO3):c.1874-195C>Tnot provided [RCV001682139]benign112663400926634009Humanname
150462260CV1264711single nucleotide variantNM_031418.4(ANO3):c.1672-133T>Gnot provided [RCV001682335]benign112659941726599417Humanname
150492774CV1268306single nucleotide variantNM_031418.4(ANO3):c.1874-160T>Cnot provided [RCV001688038]benign112663404426634044Humanname
150470457CV1269848single nucleotide variantNM_031418.4(ANO3):c.2142-159T>Cnot provided [RCV001695135]benign112664173726641737Humanname
150436549CV1270975single nucleotide variantNM_031418.4(ANO3):c.1874-127T>Cnot provided [RCV001689525]benign112663407726634077Humanname
150497961CV1271429deletionNM_031418.4(ANO3):c.2043+278delnot provided [RCV001689119]benign112663534026635340Humanname
150495556CV1272661single nucleotide variantNM_031418.4(ANO3):c.1032+164G>Anot provided [RCV001688584]benign112653762526537625Humanname
150464051CV1276318single nucleotide variantNM_031418.4(ANO3):c.2142-197A>Tnot provided [RCV001710263]benign112664169926641699Humanname
150451611CV1276617single nucleotide variantNM_031418.4(ANO3):c.1290-253T>Gnot provided [RCV001708406]benign112655299626552996Humanname
150445519CV1278165single nucleotide variantNM_031418.4(ANO3):c.2429-161G>Anot provided [RCV001707308]benign112664754826647548Humanname
150425705CV1184515microsatelliteNM_031418.4(ANO3):c.1447+57AC[22]not provided [RCV001558360]likely benign112655983526559836Humanname
150477593CV1218647microsatelliteNM_031418.4(ANO3):c.1447+57AC[21]Dystonia 24 [RCV002260227]|not provided [RCV001616274]benign112655983526559836Humanname , alternate_id
150486181CV1223152microsatelliteNM_031418.4(ANO3):c.1447+57AC[16]not provided [RCV001617865]benign112655983626559843Humanname
150515541CV1227591microsatelliteNM_031418.4(ANO3):c.1447+57AC[19]not provided [RCV001638865]benign112655983626559837Humanname
150461452CV1231478microsatelliteNM_031418.4(ANO3):c.1447+57AC[17]not provided [RCV001641045]benign112655983626559841Humanname
150445623CV1233210microsatelliteNM_031418.4(ANO3):c.1447+57AC[18]Dystonia 24 [RCV002260250]|not provided [RCV001645883]benign112655983626559839Humanname , alternate_id
151834691CV1474467deletionNM_031418.4(ANO3):c.314-9_314-6delDystonic disorder [RCV001920845]likely benign|uncertain significance112646302026463023Human2name
156116515CV2086451deletionNM_031418.4(ANO3):c.592-9_592-7delDystonic disorder [RCV002871098]likely benign112651681626516818Human2name
127260060CV1078144single nucleotide variantNM_031418.4(ANO3):c.12T>C (p.His4=)Dystonic disorder [RCV001419967]likely benign112633228726332287Human2name
152056259CV1649490microsatelliteNM_031418.4(ANO3):c.314-11_314-6delDystonic disorder [RCV002127814]likely benign112646300926463014Humanname
150412049CV1198195duplicationNM_031418.4(ANO3):c.46+137_46+139dupnot provided [RCV001574234]likely benign112633244426332445Humanname
150495496CV1205021duplicationNM_031418.4(ANO3):c.46+138_46+139dupnot provided [RCV001593513]likely benign112633244426332445Humanname
150445699CV1215538duplicationNM_031418.4(ANO3):c.46+136_46+139dupnot provided [RCV001611131]benign112633244426332445Humanname
150490776CV1251083deletionNM_031418.4(ANO3):c.242-80_242-77delnot provided [RCV001674751]benign112644368526443688Humanname
12885909CV398515microsatelliteNM_031418.4(ANO3):c.1290-5_1290-4delANO3-related disorder [RCV003912819]|Dystonia 24 [RCV002259950]|Dystonic disorder [RCV000466269]|not provided [RCV001575904]benign|likely benign112655324226553243Humanname , trait , alternate_id
15126129CV684249single nucleotide variantNM_031418.4(ANO3):c.87G>C (p.Ser29=)ANO3-related disorder [RCV003948077]|Dystonic disorder [RCV001423712]likely benign112644195826441958Human3name , trait , alternate_id
151740288CV1386484single nucleotide variantNM_031418.4(ANO3):c.17G>T (p.Gly6Val)Dystonic disorder [RCV001893204]uncertain significance112633229226332292Human2name
156164554CV1929907single nucleotide variantNM_031418.4(ANO3):c.270T>C (p.Ser90=)Dystonic disorder [RCV002624501]likely benign112644379326443793Human2name
156243867CV2101581single nucleotide variantNM_031418.4(ANO3):c.222C>T (p.Ser74=)Dystonic disorder [RCV002895010]likely benign112644209326442093Human2name
401773354CV2716539single nucleotide variantNM_031418.4(ANO3):c.10C>A (p.His4Asn)Inborn genetic diseases [RCV003304950]uncertain significance112633228526332285Human1name
405169683CV2895449single nucleotide variantNM_031418.4(ANO3):c.132C>T (p.Tyr44=)Dystonic disorder [RCV003587453]likely benign112644200326442003Human2name
405061611CV3129587microsatelliteNM_031418.4(ANO3):c.1290-19_1290-8delDystonic disorder [RCV003832856]likely benign112655322026553231Humanname
597943742CV3847274single nucleotide variantNM_031418.4(ANO3):c.120C>T (p.Leu40=)Dystonic disorder [RCV005188194]likely benign112644199126441991Human2name
15135884CV687753single nucleotide variantNM_031418.4(ANO3):c.180C>T (p.Thr60=)Dystonic disorder [RCV000864393]likely benign112644205126442051Human2name
127269090CV1078145single nucleotide variantNM_031418.4(ANO3):c.387C>T (p.Asp129=)Dystonic disorder [RCV001404546]likely benign112646310326463103Human2name
127281934CV1078146single nucleotide variantNM_031418.4(ANO3):c.648G>A (p.Thr216=)Dystonic disorder [RCV001410775]likely benign112651688326516883Human2name
127259335CV1099823single nucleotide variantNM_031418.4(ANO3):c.417G>A (p.Lys139=)Dystonic disorder [RCV001438337]likely benign112646313326463133Human2name
127331642CV1142187single nucleotide variantNM_031418.4(ANO3):c.546A>G (p.Thr182=)Dystonic disorder [RCV001488966]likely benign112650821726508217Human2name
150426913CV1187736duplicationNM_031418.4(ANO3):c.1290-27_1290-26dupnot provided [RCV001560213]likely benign112655321926553220Humanname
150444784CV1249468microsatelliteNM_031418.4(ANO3):c.314-314_314-312delnot provided [RCV001666901]benign112646271126462713Humanname
150492051CV1253863deletionNM_031418.4(ANO3):c.738-284_738-281delnot provided [RCV001674959]benign112653092026530923Humanname
150454764CV1259454deletionNM_031418.4(ANO3):c.737+263_737+264delnot provided [RCV001681228]benign112652594226525943Humanname
150460845CV1264232deletionNM_031418.4(ANO3):c.693-251_693-248delnot provided [RCV001682149]benign112652538326525386Humanname
152123185CV1664480deletionNM_031418.4(ANO3):c.1290-19_1290-18delDystonic disorder [RCV002154523]likely benign112655322926553230Human2name
156028560CV1893425single nucleotide variantNM_031418.4(ANO3):c.912T>G (p.Thr304=)Dystonic disorder [RCV003077989]likely benign112653449826534498Human2name
156226640CV1896416deletionNM_031418.4(ANO3):c.1290-13_1290-12delDystonic disorder [RCV003085201]benign112655323526553236Human2name
156446695CV1948049single nucleotide variantNM_031418.4(ANO3):c.609C>T (p.Pro203=)Dystonic disorder [RCV003118208]likely benign112651684426516844Human2name
156183993CV2102584single nucleotide variantNM_031418.4(ANO3):c.822G>A (p.Glu274=)Dystonic disorder [RCV002917237]benign112653128926531289Human2name
156316388CV2104162single nucleotide variantNM_031418.4(ANO3):c.47G>T (p.Gly16Val)Dystonic disorder [RCV002937474]uncertain significance112644191826441918Human2name
156004078CV2166571single nucleotide variantNM_031418.4(ANO3):c.849C>T (p.Phe283=)Dystonic disorder [RCV003017410]likely benign112653131626531316Human2name
405174566CV2922337single nucleotide variantNM_031418.4(ANO3):c.46G>T (p.Gly16Cys)Dystonic disorder [RCV003587939]uncertain significance112633232126332321Human2name
405247621CV3054963single nucleotide variantNM_031418.4(ANO3):c.801G>A (p.Lys267=)Dystonic disorder [RCV003746442]likely benign112653126826531268Human2name
405250418CV3059169single nucleotide variantNM_031418.4(ANO3):c.354C>T (p.His118=)Dystonic disorder [RCV003747519]likely benign112646307026463070Human2name
408390903CV3527756single nucleotide variantNM_031418.4(ANO3):c.49A>G (p.Met17Val)not provided [RCV004775025]uncertain significance112644192026441920Humanname
597649126CV3551774single nucleotide variantNM_031418.4(ANO3):c.657G>A (p.Lys219=)not provided [RCV004820487]uncertain significance112651689226516892Humanname
597833204CV3760409single nucleotide variantNM_031418.4(ANO3):c.894C>T (p.Thr298=)Dystonic disorder [RCV005085152]likely benign112653448026534480Human2name
597974847CV3802286deletionNM_031418.4(ANO3):c.1032+15_1032+16delDystonic disorder [RCV005144063]likely benign112653747526537476Human2name
597895436CV3810397single nucleotide variantNM_031418.4(ANO3):c.330G>A (p.Lys110=)Dystonic disorder [RCV005151922]likely benign112646304626463046Human2name
597880405CV3826380deletionNM_031418.4(ANO3):c.1447+15_1447+18delDystonic disorder [RCV005178077]likely benign112655979226559795Human2name
12886873CV398502single nucleotide variantNM_031418.4(ANO3):c.714C>T (p.Asp238=)ANO3-related disorder [RCV003902660]|Dystonia 24 [RCV002259953]|Dystonic disorder [RCV001512393]|not provided [RCV000468030]benign|likely benign112652565626525656Human3name , trait , alternate_id
13487308CV461138single nucleotide variantNM_031418.4(ANO3):c.534T>C (p.Asp178=)Dystonic disorder [RCV000531742]likely benign112650820526508205Human2name
13612416CV526220single nucleotide variantNM_031418.4(ANO3):c.348A>G (p.Ser116=)Dystonia 24 [RCV002260034]|Dystonic disorder [RCV001516967]|not provided [RCV000630721]benign112646306426463064Human3name , alternate_id
126743240CV1020856duplicationNM_031418.4(ANO3):c.699dup (p.Cys234fs)Dystonia 24 [RCV001336723]pathogenic112652563526525636Humanname , alternate_id
127253443CV1078147single nucleotide variantNM_031418.4(ANO3):c.1017G>A (p.Ala339=)Dystonic disorder [RCV001418274]likely benign112653744626537446Human2name
127319942CV1121320single nucleotide variantNM_031418.4(ANO3):c.1452A>T (p.Thr484=)Dystonic disorder [RCV001466745]likely benign112659836926598369Human2name
127337146CV1121321single nucleotide variantNM_031418.4(ANO3):c.2124C>T (p.Phe708=)Dystonic disorder [RCV001475430]likely benign112663922426639224Human2name
127315377CV1142188single nucleotide variantNM_031418.4(ANO3):c.1266T>C (p.Phe422=)Dystonic disorder [RCV001502693]likely benign112654752726547527Human2name
127299848CV1156684single nucleotide variantNM_031418.4(ANO3):c.1158A>G (p.Leu386=)Dystonia 24 [RCV002260157]|Dystonic disorder [RCV001513852]|not provided [RCV001673087]benign112654741926547419Human3name , alternate_id
127314048CV1156685single nucleotide variantNM_031418.4(ANO3):c.1380T>C (p.Tyr460=)Dystonic disorder [RCV001519466]benign112655333926553339Human2name
127299852CV1156687single nucleotide variantNM_031418.4(ANO3):c.1692A>C (p.Ala564=)Dystonia 24 [RCV002260158]|Dystonic disorder [RCV001513853]|not provided [RCV001647304]benign112659957026599570Human3name , alternate_id
127300992CV1156688single nucleotide variantNM_031418.4(ANO3):c.1989C>T (p.Phe663=)Dystonia 24 [RCV002260159]|Dystonic disorder [RCV001514475]|not provided [RCV001692404]benign112663501626635016Human3name , alternate_id
127317208CV1156689single nucleotide variantNM_031418.4(ANO3):c.2439T>G (p.Leu813=)Dystonic disorder [RCV001520946]benign112664771926647719Human2name
127306978CV1156690single nucleotide variantNM_031418.4(ANO3):c.2682C>T (p.Pro894=)Dystonia 24 [RCV002260165]|Dystonic disorder [RCV001516884]|not provided [RCV001692409]benign112665640026656400Human3name , alternate_id
150527924CV1300935single nucleotide variantNM_031418.4(ANO3):c.100C>G (p.Arg34Gly)Dystonic disorder [RCV002538842]|not provided [RCV001754795]uncertain significance112644197126441971Human2name
151353135CV1326039single nucleotide variantNM_031418.4(ANO3):c.128G>A (p.Ser43Asn)Inborn genetic diseases [RCV002541509]|not provided [RCV001816099]uncertain significance112644199926441999Human1name
151352786CV1326040single nucleotide variantNM_031418.4(ANO3):c.2328T>C (p.Pro776=)not provided [RCV001815720]likely benign112664323426643234Humanname
151870737CV1395695single nucleotide variantNM_031418.4(ANO3):c.121G>A (p.Ala41Thr)Dystonic disorder [RCV002035631]|Inborn genetic diseases [RCV003170509]uncertain significance112644199226441992Human3name
151870487CV1453776single nucleotide variantNM_031418.4(ANO3):c.2391A>G (p.Gln797=)Dystonic disorder [RCV001939730]likely benign|uncertain significance112664329726643297Human2name
152032907CV1542543single nucleotide variantNM_031418.4(ANO3):c.1482G>A (p.Arg494=)Dystonic disorder [RCV002106461]likely benign112659839926598399Human2name
155719197CV1775564single nucleotide variantNM_031418.4(ANO3):c.290C>T (p.Ala97Val)Dystonic disorder [RCV002301214]uncertain significance112644381326443813Human2name
156253511CV1867997single nucleotide variantNM_031418.4(ANO3):c.181G>A (p.Glu61Lys)Dystonic disorder [RCV003060109]|Inborn genetic diseases [RCV004960925]uncertain significance112644205226442052Human3name
156055411CV1869931single nucleotide variantNM_031418.4(ANO3):c.2373A>G (p.Ala791=)Dystonic disorder [RCV003053145]likely benign112664327926643279Human2name
156374797CV1871798single nucleotide variantNM_031418.4(ANO3):c.1092A>C (p.Leu364=)Dystonic disorder [RCV003066617]likely benign112654200626542006Human2name
156359887CV1874061single nucleotide variantNM_031418.4(ANO3):c.2448C>T (p.Leu816=)Dystonic disorder [RCV003065535]likely benign112664772826647728Human2name
156156815CV1875513single nucleotide variantNM_031418.4(ANO3):c.124C>T (p.Gln42Ter)Dystonic disorder [RCV003056743]uncertain significance112644199526441995Human2name
156134019CV1905556single nucleotide variantNM_031418.4(ANO3):c.2373A>C (p.Ala791=)Dystonic disorder [RCV003081947]likely benign112664327926643279Human2name
156274206CV1915526single nucleotide variantNM_031418.4(ANO3):c.2526T>C (p.Val842=)Dystonic disorder [RCV002628206]likely benign112664780626647806Human2name
156284693CV1929663single nucleotide variantNM_031418.4(ANO3):c.1092A>G (p.Leu364=)Dystonic disorder [RCV002628563]likely benign112654200626542006Human2name
156060271CV1930964single nucleotide variantNM_031418.4(ANO3):c.1893A>T (p.Ser631=)Dystonic disorder [RCV002638260]likely benign112663422326634223Human2name
156392756CV1965067single nucleotide variantNM_031418.4(ANO3):c.182A>C (p.Glu61Ala)Dystonic disorder [RCV002584029]likely benign112644205326442053Human2name
156006632CV1984559single nucleotide variantNM_031418.4(ANO3):c.1104C>G (p.Arg368=)Dystonic disorder [RCV002618699]likely benign112654201826542018Human2name
155903946CV2007199single nucleotide variantNM_031418.4(ANO3):c.2310G>A (p.Ala770=)Dystonic disorder [RCV002681275]uncertain significance112664321626643216Human2name
156135678CV2044341single nucleotide variantNM_031418.4(ANO3):c.1026A>G (p.Pro342=)Dystonic disorder [RCV002786338]benign112653745526537455Human2name
155944211CV2062071single nucleotide variantNM_031418.4(ANO3):c.1653C>G (p.Val551=)Dystonic disorder [RCV002815883]likely benign112659898026598980Human2name
156145875CV2090880single nucleotide variantNM_031418.4(ANO3):c.293A>C (p.Asp98Ala)Dystonic disorder [RCV002890482]uncertain significance112644381626443816Human2name
155981533CV2098051single nucleotide variantNM_031418.4(ANO3):c.263A>G (p.Asn88Ser)Dystonic disorder [RCV002907730]uncertain significance112644378626443786Human2name
156023826CV2105948single nucleotide variantNM_031418.4(ANO3):c.248C>A (p.Thr83Asn)Dystonic disorder [RCV002923196]uncertain significance112644377126443771Human2name
156025988CV2139181single nucleotide variantNM_031418.4(ANO3):c.1767A>G (p.Gln589=)Dystonic disorder [RCV002998922]likely benign112659964526599645Human2name
156178407CV2144922single nucleotide variantNM_031418.4(ANO3):c.1680G>A (p.Leu560=)Dystonic disorder [RCV003005628]likely benign112659955826599558Human2name
156129025CV2155616single nucleotide variantNM_031418.4(ANO3):c.2496T>C (p.Ala832=)Dystonic disorder [RCV003003282]likely benign112664777626647776Human2name
156339881CV2179706single nucleotide variantNM_031418.4(ANO3):c.1227A>C (p.Ala409=)Dystonic disorder [RCV003030225]likely benign112654748826547488Human2name
11346646CV241088single nucleotide variantNM_031418.4(ANO3):c.1968C>T (p.Ile656=)Dystonia 24 [RCV000615184]|Dystonic disorder [RCV000229247]|not provided [RCV001589198]benign|likely benign112663429826634298Human3name , alternate_id
11350169CV241089single nucleotide variantNM_031418.4(ANO3):c.2535C>T (p.Tyr845=)Dystonic disorder [RCV000233521]benign112664781526647815Human2name
243063403CV2411720deletionNM_031418.4(ANO3):c.972del (p.Val325fs)Dystonia 24 [RCV003141443]uncertain significance112653455526534555Human1name , alternate_id
243063404CV2411721single nucleotide variantNM_031418.4(ANO3):c.160A>G (p.Thr54Ala)Dystonia 24 [RCV003141444]uncertain significance112644203126442031Human1name , alternate_id
401904242CV2816536single nucleotide variantNM_031418.4(ANO3):c.161C>T (p.Thr54Ile)not provided [RCV003394790]uncertain significance112644203226442032Humanname
405164041CV2869837single nucleotide variantNM_031418.4(ANO3):c.2658G>A (p.Arg886=)Dystonic disorder [RCV003586978]uncertain significance112665637626656376Human2name
405162855CV2872146single nucleotide variantNM_031418.4(ANO3):c.2703G>A (p.Glu901=)Dystonic disorder [RCV003586881]likely benign112665642126656421Human2name
405161590CV2878179single nucleotide variantNM_031418.4(ANO3):c.121G>T (p.Ala41Ser)Dystonic disorder [RCV003586781]|Inborn genetic diseases [RCV004636759]uncertain significance112644199226441992Human3name
405167415CV2889740single nucleotide variantNM_031418.4(ANO3):c.186T>G (p.Ser62Arg)Dystonic disorder [RCV003587278]uncertain significance112644205726442057Human2name
405164769CV2891225single nucleotide variantNM_031418.4(ANO3):c.255G>T (p.Glu85Asp)Dystonic disorder [RCV003587041]uncertain significance112644377826443778Human2name
405166213CV2892552single nucleotide variantNM_031418.4(ANO3):c.212C>G (p.Thr71Ser)Dystonic disorder [RCV003587175]uncertain significance112644208326442083Human2name
405168259CV2894292single nucleotide variantNM_031418.4(ANO3):c.265G>A (p.Asp89Asn)Dystonic disorder [RCV003587351]uncertain significance112644378826443788Human2name
405249951CV2994021single nucleotide variantNM_031418.4(ANO3):c.1257T>C (p.Tyr419=)Dystonic disorder [RCV003747344]likely benign112654751826547518Human2name
405249670CV2994277single nucleotide variantNM_031418.4(ANO3):c.2895G>A (p.Leu965=)Dystonic disorder [RCV003747225]likely benign112666039326660393Human2name
405249845CV3002935single nucleotide variantNM_031418.4(ANO3):c.223A>G (p.Thr75Ala)Dystonic disorder [RCV003747298]uncertain significance112644209426442094Human2name
405246814CV3028340single nucleotide variantNM_031418.4(ANO3):c.1407T>C (p.Asn469=)Dystonic disorder [RCV003746129]likely benign112655973926559739Human2name
405247201CV3037936single nucleotide variantNM_031418.4(ANO3):c.1866C>T (p.Thr622=)Dystonic disorder [RCV003746279]likely benign112662449126624491Human2name
405247520CV3043758single nucleotide variantNM_031418.4(ANO3):c.121G>C (p.Ala41Pro)Dystonic disorder [RCV003746402]uncertain significance112644199226441992Human2name
405186215CV3149045single nucleotide variantNM_031418.4(ANO3):c.2709T>C (p.Thr903=)Dystonic disorder [RCV003842969]likely benign112665642726656427Human2name
405127643CV3163166single nucleotide variantNM_031418.4(ANO3):c.1539T>G (p.Leu513=)ANO3-related disorder [RCV003956612]|Dystonic disorder [RCV003854347]likely benign112659886626598866Human3name , trait , alternate_id
405237046CV3166601single nucleotide variantNM_031418.4(ANO3):c.1506C>T (p.Asp502=)Dystonic disorder [RCV003854051]likely benign112659842326598423Human2name
402473782CV3172268single nucleotide variantNM_031418.4(ANO3):c.2220T>C (p.Asp740=)Dystonic disorder [RCV003874871]likely benign112664197426641974Human2name
402466040CV3177334single nucleotide variantNM_031418.4(ANO3):c.155A>G (p.Gln52Arg)Dystonic disorder [RCV003872965]uncertain significance112644202626442026Human2name
405227778CV3180257single nucleotide variantNM_031418.4(ANO3):c.2283A>G (p.Gln761=)Dystonic disorder [RCV003864677]likely benign112664318926643189Human2name
596926063CV3530683single nucleotide variantNM_031418.4(ANO3):c.166C>T (p.Leu56Phe)not provided [RCV004778268]uncertain significance112644203726442037Humanname
596920801CV3534197single nucleotide variantNM_031418.4(ANO3):c.2139C>T (p.Tyr713=)not specified [RCV004783416]uncertain significance112663923926639239Humanname
596929081CV3540780single nucleotide variantNM_031418.4(ANO3):c.101G>A (p.Arg34Gln)not provided [RCV004795108]uncertain significance112644197226441972Humanname
597710318CV3555037single nucleotide variantNM_031418.4(ANO3):c.160A>T (p.Thr54Ser)Inborn genetic diseases [RCV004958975]uncertain significance112644203126442031Human1name
597860826CV3748715single nucleotide variantNM_031418.4(ANO3):c.1455C>G (p.Val485=)Dystonic disorder [RCV005067347]likely benign112659837226598372Human2name
597836584CV3757711single nucleotide variantNM_031418.4(ANO3):c.101G>C (p.Arg34Pro)Dystonic disorder [RCV005085725]uncertain significance112644197226441972Human2name
597877726CV3776161single nucleotide variantNM_031418.4(ANO3):c.2292T>C (p.Phe764=)Dystonic disorder [RCV005123689]likely benign112664319826643198Human2name
597921045CV3781346single nucleotide variantNM_031418.4(ANO3):c.1905C>T (p.Asn635=)Dystonic disorder [RCV005130228]likely benign112663423526634235Human2name
597953886CV3795649single nucleotide variantNM_031418.4(ANO3):c.1497T>C (p.Tyr499=)Dystonic disorder [RCV005136659]likely benign112659841426598414Human2name
597973448CV3820485single nucleotide variantNM_031418.4(ANO3):c.1191T>C (p.Ala397=)Dystonic disorder [RCV005168002]likely benign112654745226547452Human2name
597967026CV3855701single nucleotide variantNM_031418.4(ANO3):c.1152C>T (p.Ile384=)Dystonic disorder [RCV005194681]uncertain significance112654206626542066Human2name
598244245CV3895499single nucleotide variantNM_031418.4(ANO3):c.269C>G (p.Ser90Cys)Dystonia 24 [RCV005365647]uncertain significance112644379226443792Human1name , alternate_id
12889175CV398128single nucleotide variantNM_031418.4(ANO3):c.2811C>T (p.Asp937=)Dystonia 24 [RCV002259951]|Dystonic disorder [RCV000472308]|not provided [RCV001565450]benign|likely benign112666030926660309Human3name , alternate_id
12882695CV398489single nucleotide variantNM_031418.4(ANO3):c.164C>T (p.Ser55Phe)Dystonia 24 [RCV002259955]|Dystonic disorder [RCV000460145]|Inborn genetic diseases [RCV004022917]|not provided [RCV001653834]|not specified [RCV001529928]benign|likely benign|uncertain significance112644203526442035Human4name , alternate_id
12891835CV398599single nucleotide variantNM_031418.4(ANO3):c.2817A>G (p.Pro939=)ANO3-related disorder [RCV003942505]|Dystonia 24 [RCV002259954]|Dystonic disorder [RCV000477318]|not provided [RCV001692131]benign|likely benign112666031526660315Human3name , trait , alternate_id
598213919CV3993749single nucleotide variantNM_031418.4(ANO3):c.202A>G (p.Thr68Ala)Inborn genetic diseases [RCV005378448]uncertain significance112644207326442073Human1name
13446160CV437886single nucleotide variantNM_031418.4(ANO3):c.295C>A (p.Leu99Ile)Dystonic disorder [RCV001045840]|not provided [RCV000513349]likely benign|conflicting interpretations of pathogenicity|uncertain significance112644381826443818Human2name
13445690CV437887single nucleotide variantNM_031418.4(ANO3):c.1968C>A (p.Ile656=)Dystonic disorder [RCV005091164]|not provided [RCV000512738]likely benign|uncertain significance112663429826634298Human2name
13485636CV461798single nucleotide variantNM_031418.4(ANO3):c.257A>G (p.Asn86Ser)Dystonic disorder [RCV000553312]uncertain significance112644378026443780Human2name
13480677CV461802single nucleotide variantNM_031418.4(ANO3):c.1911C>T (p.Phe637=)ANO3-related disorder [RCV003925577]|Dystonia 24 [RCV002259987]|Dystonic disorder [RCV002060292]|not provided [RCV000528630]benign112663424126634241Human3name , trait , alternate_id
13518528CV486054single nucleotide variantNM_031418.4(ANO3):c.2373A>T (p.Ala791=)Dystonic disorder [RCV003586196]|not provided [RCV000584882]likely benign|uncertain significance112664327926643279Human2name
13706012CV537151single nucleotide variantNM_031418.4(ANO3):c.2343A>G (p.Leu781=)not provided [RCV000658589]uncertain significance112664324926643249Humanname
13810745CV570498single nucleotide variantNM_031418.4(ANO3):c.122C>T (p.Ala41Val)Dystonic disorder [RCV000702742]uncertain significance112644199326441993Human2name
14731555CV639911single nucleotide variantNM_031418.4(ANO3):c.281G>A (p.Cys94Tyr)Dystonic disorder [RCV000817878]|Inborn genetic diseases [RCV002537427]likely benign|uncertain significance112644380426443804Human3name
15123373CV684250single nucleotide variantNM_031418.4(ANO3):c.1401C>T (p.Phe467=)Dystonic disorder [RCV001510593]benign112655973326559733Human2name
15122444CV684251single nucleotide variantNM_031418.4(ANO3):c.1915C>T (p.Leu639=)ANO3-related disorder [RCV003908172]|Dystonia 24 [RCV002260071]|Dystonic disorder [RCV001419684]|not provided [RCV000862058]benign|likely benign112663424526634245Human3name , trait , alternate_id
15131739CV684252single nucleotide variantNM_031418.4(ANO3):c.2604C>T (p.Ser868=)Dystonic disorder [RCV002538930]likely benign112665615226656152Human2name
15099268CV687754single nucleotide variantNM_031418.4(ANO3):c.1245C>T (p.Cys415=)Dystonic disorder [RCV002539057]likely benign112654750626547506Human2name
15160962CV687755single nucleotide variantNM_031418.4(ANO3):c.1494C>A (p.Thr498=)not provided [RCV000869120]likely benign112659841126598411Humanname
15137100CV687756single nucleotide variantNM_031418.4(ANO3):c.2013T>C (p.Asn671=)Dystonic disorder [RCV002536262]likely benign112663504026635040Human2name
15140195CV692989single nucleotide variantNM_031418.4(ANO3):c.2412C>G (p.Ala804=)not provided [RCV000877450]likely benign112664331826643318Humanname
15136267CV752628single nucleotide variantNM_031418.4(ANO3):c.2340G>A (p.Leu780=)Dystonic disorder [RCV001488012]likely benign112664324626643246Human2name
15109015CV768402single nucleotide variantNM_031418.4(ANO3):c.1035A>G (p.Gly345=)Dystonic disorder [RCV002544540]likely benign112654194926541949Human2name
15116511CV768403single nucleotide variantNM_031418.4(ANO3):c.2766C>T (p.His922=)Dystonic disorder [RCV001397583]likely benign112666026426660264Human2name
15134291CV783975single nucleotide variantNM_031418.4(ANO3):c.1593G>A (p.Thr531=)Dystonic disorder [RCV000981711]likely benign112659892026598920Human2name
21073934CV796561single nucleotide variantNM_031418.4(ANO3):c.2346C>T (p.Asn782=)not provided [RCV000994590]uncertain significance112664325226643252Humanname
126766839CV1030176single nucleotide variantNM_031418.4(ANO3):c.830A>G (p.Asp277Gly)Dystonic disorder [RCV001342582]uncertain significance112653129726531297Human2name
126914988CV1047164single nucleotide variantNM_031418.4(ANO3):c.313G>A (p.Ala105Thr)Dystonic disorder [RCV001370658]uncertain significance112644383626443836Human2name
150335725CV1172244duplicationNM_031418.4(ANO3):c.1874-107_1874-106dupnot provided [RCV001540682]benign112663408026634081Humanname
150431462CV1206358deletionNM_031418.4(ANO3):c.2275+313_2275+322delnot provided [RCV001581007]likely benign112664233926642348Humanname
150499859CV1224671deletionNM_031418.4(ANO3):c.1033-305_1033-304delnot provided [RCV001620503]benign112654164226541643Humanname
150477993CV1240119duplicationNM_031418.4(ANO3):c.1874-108_1874-106dupnot provided [RCV001652297]benign112663408026634081Humanname
150469248CV1243126duplicationNM_031418.4(ANO3):c.1874-109_1874-106dupnot provided [RCV001650645]benign112663408026634081Humanname
150431322CV1243657insertionNM_031418.4(ANO3):c.1447+73_1447+74insTAnot provided [RCV001663277]benign112655985126559852Humanname
150475131CV1278997deletionNM_031418.4(ANO3):c.1289+143_1289+144delnot provided [RCV001713797]benign112654769226547693Humanname
150554216CV1296617single nucleotide variantNM_031418.4(ANO3):c.709A>G (p.Thr237Ala)not provided [RCV001770854]uncertain significance112652565126525651Humanname
150552413CV1301384single nucleotide variantNM_031418.4(ANO3):c.610G>A (p.Asp204Asn)not provided [RCV001767794]uncertain significance112651684526516845Humanname
151351751CV1321961single nucleotide variantNM_031418.4(ANO3):c.992T>A (p.Ile331Lys)not provided [RCV001806631]uncertain significance112653742126537421Humanname
151730190CV1412966single nucleotide variantNM_031418.4(ANO3):c.338C>T (p.Thr113Met)Dystonic disorder [RCV002004689]uncertain significance112646305426463054Human2name
151731739CV1419306single nucleotide variantNM_031418.4(ANO3):c.853C>T (p.Arg285Cys)Dystonic disorder [RCV001946116]uncertain significance112653132026531320Human2name
151734780CV1470885single nucleotide variantNM_031418.4(ANO3):c.358A>G (p.Thr120Ala)Dystonic disorder [RCV001967485]uncertain significance112646307426463074Human2name
151739181CV1490361single nucleotide variantNM_031418.4(ANO3):c.370T>C (p.Ser124Pro)Dystonic disorder [RCV001985070]uncertain significance112646308626463086Human2name
151855726CV1506844single nucleotide variantNM_031418.4(ANO3):c.767A>C (p.Asn256Thr)Dystonic disorder [RCV001937923]uncertain significance112653123426531234Human2name
153301215CV1689063single nucleotide variantNM_031418.4(ANO3):c.702C>A (p.Cys234Ter)Dystonia 24 [RCV002266791]uncertain significance112652564426525644Human1name , alternate_id
155934148CV1916194single nucleotide variantNM_031418.4(ANO3):c.421A>G (p.Lys141Glu)Dystonic disorder [RCV002615181]uncertain significance112646313726463137Human2name
155968747CV2066200single nucleotide variantNM_031418.4(ANO3):c.464C>T (p.Pro155Leu)Dystonic disorder [RCV002841977]uncertain significance112650813526508135Human2name
155918518CV2102237single nucleotide variantNM_031418.4(ANO3):c.746C>G (p.Thr249Ser)Dystonic disorder [RCV002903226]|Inborn genetic diseases [RCV003167896]uncertain significance112653121326531213Human3name
156360156CV2162446deletionNM_031418.4(ANO3):c.2697del (p.Tyr900fs)Dystonic disorder [RCV003031508]uncertain significance112665641326656413Human2name
156366317CV2163509single nucleotide variantNM_031418.4(ANO3):c.493G>T (p.Asp165Tyr)Dystonic disorder [RCV003031905]uncertain significance112650816426508164Human2name
155944723CV2237852single nucleotide variantNM_031418.4(ANO3):c.983G>A (p.Arg328His)Inborn genetic diseases [RCV002752366]uncertain significance112653741226537412Human1name
156212659CV2259977single nucleotide variantNM_031418.4(ANO3):c.368G>A (p.Arg123Gln)Inborn genetic diseases [RCV002804180]uncertain significance112646308426463084Human1name
11059983CV226926single nucleotide variantNM_031418.4(ANO3):c.922A>C (p.Ile308Leu)Inborn genetic diseases [RCV000210588]likely pathogenic112653450826534508Human1name
155902039CV2274616single nucleotide variantNM_031418.4(ANO3):c.979A>G (p.Ile327Val)Inborn genetic diseases [RCV002836645]uncertain significance112653740826537408Human1name
156215040CV2385962single nucleotide variantNM_031418.4(ANO3):c.674A>C (p.Asn225Thr)Inborn genetic diseases [RCV002744340]uncertain significance112651690926516909Human1name
243063405CV2411722single nucleotide variantNM_031418.4(ANO3):c.827C>G (p.Ser276Ter)Dystonia 24 [RCV003141445]|not provided [RCV005242373]uncertain significance112653129426531294Human1name , alternate_id
11542214CV248476single nucleotide variantNM_031418.4(ANO3):c.702C>G (p.Cys234Trp)not provided [RCV000240474]uncertain significance112652564426525644Humanname
401749295CV2693052single nucleotide variantNM_031418.4(ANO3):c.734G>T (p.Gly245Val)Inborn genetic diseases [RCV003276426]uncertain significance112652567626525676Human1name
401772263CV2719587single nucleotide variantNM_031418.4(ANO3):c.391G>T (p.Val131Phe)Inborn genetic diseases [RCV003304617]uncertain significance112646310726463107Human1name
401798357CV2739330single nucleotide variantNM_031418.4(ANO3):c.340G>C (p.Asp114His)not provided [RCV003318978]uncertain significance112646305626463056Humanname
401857198CV2752131single nucleotide variantNM_031418.4(ANO3):c.944G>A (p.Arg315His)Dystonia 24 [RCV003336008]uncertain significance112653453026534530Human1name , alternate_id
401905097CV2800378single nucleotide variantNM_031418.4(ANO3):c.374G>A (p.Arg125His)ANO3-related disorder [RCV003420695]|Inborn genetic diseases [RCV004362773]uncertain significance112646309026463090Human2name , trait , alternate_id
401916721CV2829456single nucleotide variantNM_031418.4(ANO3):c.428C>T (p.Ser143Phe)not provided [RCV003443500]uncertain significance112646314426463144Humanname
405162513CV2868490single nucleotide variantNM_031418.4(ANO3):c.647C>T (p.Thr216Met)Dystonic disorder [RCV003586854]uncertain significance112651688226516882Human2name
405164031CV2869778single nucleotide variantNM_031418.4(ANO3):c.365A>C (p.Asp122Ala)Dystonic disorder [RCV003586977]uncertain significance112646308126463081Human2name
405167810CV2893641single nucleotide variantNM_031418.4(ANO3):c.825G>C (p.Glu275Asp)Dystonic disorder [RCV003587311]uncertain significance112653129226531292Human2name
405249113CV2969017single nucleotide variantNM_031418.4(ANO3):c.818T>A (p.Leu273Gln)Dystonic disorder [RCV003746993]uncertain significance112653128526531285Human2name
405247433CV3053184single nucleotide variantNM_031418.4(ANO3):c.398A>G (p.Lys133Arg)Dystonic disorder [RCV003746368]|Inborn genetic diseases [RCV004953424]likely benign|uncertain significance112646311426463114Human3name
405116146CV3115832single nucleotide variantNM_031418.4(ANO3):c.722G>T (p.Ser241Ile)Dystonic disorder [RCV003814322]uncertain significance112652566426525664Human2name
407488513CV3458392single nucleotide variantNM_031418.4(ANO3):c.314C>A (p.Ala105Asp)Inborn genetic diseases [RCV004641312]uncertain significance112646303026463030Human1name
407460077CV3496913single nucleotide variantNM_031418.4(ANO3):c.787A>G (p.Met263Val)Dystonia 24 [RCV004698728]likely benign112653125426531254Human1name , alternate_id
408369975CV3502936single nucleotide variantNM_031418.4(ANO3):c.771G>C (p.Trp257Cys)not provided [RCV004724057]uncertain significance112653123826531238Humanname
408371588CV3503841single nucleotide variantNM_031418.4(ANO3):c.373C>G (p.Arg125Gly)ANO3-related disorder [RCV004724680]uncertain significance112646308926463089Humanname , trait , alternate_id
408384219CV3520050single nucleotide variantNM_031418.4(ANO3):c.785C>T (p.Pro262Leu)not provided [RCV004759871]uncertain significance112653125226531252Humanname
597710269CV3555015single nucleotide variantNM_031418.4(ANO3):c.527A>T (p.Gln176Leu)Inborn genetic diseases [RCV004958966]uncertain significance112650819826508198Human1name
12846660CV371374single nucleotide variantNM_031418.4(ANO3):c.613A>G (p.Ile205Val)Inborn genetic diseases [RCV002521816]|not provided [RCV000442061]uncertain significance112651684826516848Human1name
597906870CV3738799single nucleotide variantNM_031418.4(ANO3):c.719G>A (p.Arg240Lys)Dystonic disorder [RCV005073034]uncertain significance112652566126525661Human2name
12845207CV374065single nucleotide variantNM_031418.4(ANO3):c.704A>G (p.Tyr235Cys)Dystonia 24 [RCV005365291]|Dystonic disorder [RCV000692590]|not provided [RCV000994588]conflicting interpretations of pathogenicity|uncertain significance112652564626525646Human3name , alternate_id
597972177CV3829498single nucleotide variantNM_031418.4(ANO3):c.732G>A (p.Met244Ile)Dystonic disorder [RCV005167285]uncertain significance112652567426525674Human2name
597869605CV3839267single nucleotide variantNM_031418.4(ANO3):c.365A>G (p.Asp122Gly)Dystonic disorder [RCV005176378]uncertain significance112646308126463081Human2name
597886167CV3842297single nucleotide variantNM_031418.4(ANO3):c.482A>G (p.Lys161Arg)Dystonic disorder [RCV005178932]uncertain significance112650815326508153Human2name
598244252CV3895501single nucleotide variantNM_031418.4(ANO3):c.572G>A (p.Gly191Asp)Dystonia 24 [RCV005365648]uncertain significance112650824326508243Human1name , alternate_id
598179809CV3993755single nucleotide variantNM_031418.4(ANO3):c.338C>G (p.Thr113Arg)Inborn genetic diseases [RCV005372005]uncertain significance112646305426463054Human1name
598179814CV3993757single nucleotide variantNM_031418.4(ANO3):c.758G>A (p.Arg253Lys)Inborn genetic diseases [RCV005372006]uncertain significance112653122526531225Human1name
13705478CV536813single nucleotide variantNM_031418.4(ANO3):c.914G>A (p.Arg305Gln)Dystonic disorder [RCV002534266]|Inborn genetic diseases [RCV002534265]|not provided [RCV000658026]uncertain significance112653450026534500Human3name
13801530CV565641single nucleotide variantNM_031418.4(ANO3):c.743A>C (p.Gln248Pro)Dystonia 24 [RCV000763728]|Dystonic disorder [RCV000697897]uncertain significance112653121026531210Human3name , alternate_id
14715347CV639912single nucleotide variantNM_031418.4(ANO3):c.407C>A (p.Ser136Tyr)Dystonic disorder [RCV000794737]|Inborn genetic diseases [RCV002536984]|not provided [RCV004705781]likely benign|uncertain significance112646312326463123Human3name
14738293CV639913single nucleotide variantNM_031418.4(ANO3):c.523A>G (p.Ile175Val)Dystonic disorder [RCV000820867]likely benign|uncertain significance112650819426508194Human2name
14717808CV639914single nucleotide variantNM_031418.4(ANO3):c.715G>A (p.Gly239Arg)Dystonia 24 [RCV005359533]|Dystonic disorder [RCV000795592]likely benign|uncertain significance112652565726525657Human3name , alternate_id
14730699CV639915single nucleotide variantNM_031418.4(ANO3):c.859C>T (p.Arg287Trp)Dystonic disorder [RCV000817516]uncertain significance112653132626531326Human2name
26885212CV838244single nucleotide variantNM_031418.4(ANO3):c.816C>G (p.Asp272Glu)Dystonic disorder [RCV001065327]uncertain significance112653128326531283Human2name
126755684CV994448single nucleotide variantNM_031418.4(ANO3):c.632A>G (p.His211Arg)Dystonic disorder [RCV001298408]uncertain significance112651686726516867Human2name
126736520CV994449single nucleotide variantNM_031418.4(ANO3):c.929A>G (p.Tyr310Cys)Dystonic disorder [RCV001295232]uncertain significance112653451526534515Human2name
126736638CV1000726single nucleotide variantNM_031418.4(ANO3):c.1912G>A (p.Ala638Thr)Dystonic disorder [RCV003770633]|not provided [RCV001311756]uncertain significance112663424226634242Human2name
126725794CV1030177single nucleotide variantNM_031418.4(ANO3):c.1505A>G (p.Asp502Gly)Dystonic disorder [RCV001348260]uncertain significance112659842226598422Human2name
126725764CV1030178single nucleotide variantNM_031418.4(ANO3):c.1693G>T (p.Val565Leu)Dystonic disorder [RCV001348250]uncertain significance112659957126599571Human2name
126912220CV1038053single nucleotide variantNM_031418.4(ANO3):c.1231A>G (p.Ile411Val)ANO3-related disorder [RCV003898338]|Dystonia 24 [RCV001356278]|Dystonic disorder [RCV002070233]benign|likely benign|uncertain significance112654749226547492Human3name , trait , alternate_id
150334352CV1164385single nucleotide variantNM_031418.4(ANO3):c.2945A>G (p.Ter982Trp)not provided [RCV001529562]uncertain significance112666044326660443Humanname
150434784CV1244037insertionNM_031418.4(ANO3):c.1874-109_1874-108insTnot provided [RCV001665244]benign112663409526634096Humanname
150484798CV1250097insertionNM_031418.4(ANO3):c.1874-110_1874-109insTnot provided [RCV001673710]benign112663409426634095Humanname
150546498CV1296243single nucleotide variantNM_031418.4(ANO3):c.1540C>T (p.Arg514Cys)Dystonic disorder [RCV002544054]|not provided [RCV001763533]uncertain significance112659886726598867Human2name
150546954CV1302911single nucleotide variantNM_031418.4(ANO3):c.2459G>A (p.Gly820Asp)not provided [RCV001763656]uncertain significance112664773926647739Humanname
150553592CV1303602single nucleotide variantNM_031418.4(ANO3):c.2891A>C (p.His964Pro)not provided [RCV001769292]uncertain significance112666038926660389Humanname
151235841CV1319268single nucleotide variantNM_031418.4(ANO3):c.2449G>A (p.Glu817Lys)Dystonic disorder [RCV005095157]|not provided [RCV001797213]uncertain significance112664772926647729Human2name
151760333CV1343211single nucleotide variantNM_031418.4(ANO3):c.1437G>A (p.Met479Ile)Dystonic disorder [RCV002024290]uncertain significance112655976926559769Human2name
151853125CV1376225single nucleotide variantNM_031418.4(ANO3):c.2503T>G (p.Ser835Ala)Dystonic disorder [RCV001996213]uncertain significance112664778326647783Human2name
151723458CV1414153single nucleotide variantNM_031418.4(ANO3):c.2009A>G (p.Tyr670Cys)Dystonic disorder [RCV002020492]uncertain significance112663503626635036Human2name
151787719CV1416763single nucleotide variantNM_031418.4(ANO3):c.2483C>T (p.Ala828Val)Dystonic disorder [RCV001989760]uncertain significance112664776326647763Human2name
151823157CV1448426single nucleotide variantNM_031418.4(ANO3):c.2780T>G (p.Ile927Ser)Dystonic disorder [RCV001934342]|Inborn genetic diseases [RCV002562164]uncertain significance112666027826660278Human3name
151863756CV1498608single nucleotide variantNM_031418.4(ANO3):c.2092A>G (p.Ile698Val)Dystonic disorder [RCV001980464]uncertain significance112663919226639192Human2name
152124928CV1580597single nucleotide variantNM_031418.4(ANO3):c.1246G>A (p.Val416Ile)Dystonic disorder [RCV002082078]likely benign112654750726547507Human2name
152079746CV1666837single nucleotide variantNM_031418.4(ANO3):c.1612C>T (p.Gln538Ter)not provided [RCV002211182]uncertain significance112659893926598939Humanname
152057607CV1670612single nucleotide variantNM_031418.4(ANO3):c.2906G>A (p.Arg969Gln)not provided [RCV002226132]likely benign112666040426660404Humanname
153302436CV1688224single nucleotide variantNM_031418.4(ANO3):c.1112G>A (p.Arg371His)Inborn genetic diseases [RCV003382875]|not provided [RCV002265450]likely benign|uncertain significance112654202626542026Human1name
153303649CV1690399single nucleotide variantNM_031418.4(ANO3):c.1102C>G (p.Arg368Gly)not provided [RCV002269442]uncertain significance112654201626542016Humanname
153303820CV1690494single nucleotide variantNM_031418.4(ANO3):c.2810A>G (p.Asp937Gly)not provided [RCV002269538]uncertain significance112666030826660308Humanname
153346959CV1691899duplicationNM_031418.4(ANO3):c.1007dup (p.Tyr336Ter)not provided [RCV002273382]uncertain significance112653743526537436Humanname
153348997CV1693100single nucleotide variantNM_031418.4(ANO3):c.1699G>A (p.Gly567Arg)Dystonia 24 [RCV003336516]|See cases [RCV002275380]|not provided [RCV002511148]likely pathogenic|conflicting interpretations of pathogenicity112659957726599577Human1name , alternate_id
155643880CV1708190single nucleotide variantNM_031418.4(ANO3):c.1714C>T (p.Arg572Cys)Dystonia 24 [RCV002290179]uncertain significance112659959226599592Human1name , alternate_id
155645001CV1710517single nucleotide variantNM_031418.4(ANO3):c.1067A>G (p.His356Arg)Inborn genetic diseases [RCV005375089]|not provided [RCV002293813]uncertain significance112654198126541981Human1name
155709500CV1772884single nucleotide variantNM_031418.4(ANO3):c.2051C>G (p.Pro684Arg)Dystonic disorder [RCV002300510]uncertain significance112663915126639151Human2name
155798290CV1861931single nucleotide variantNM_031418.4(ANO3):c.2306T>C (p.Val769Ala)Dystonia 24 [RCV002471334]uncertain significance112664321226643212Human1name , alternate_id
156046829CV1867526single nucleotide variantNM_031418.4(ANO3):c.1760T>C (p.Ile587Thr)not provided [RCV002509998]uncertain significance112659963826599638Humanname
155948460CV1869160single nucleotide variantNM_031418.4(ANO3):c.2274G>A (p.Met758Ile)Dystonic disorder [RCV003074000]uncertain significance112664202826642028Human2name
156116906CV1877374single nucleotide variantNM_031418.4(ANO3):c.1541G>A (p.Arg514His)Dystonic disorder [RCV003081274]|Inborn genetic diseases [RCV003250732]uncertain significance112659886826598868Human3name
156412321CV1890499single nucleotide variantNM_031418.4(ANO3):c.1952G>A (p.Ser651Asn)Dystonic disorder [RCV003072844]pathogenic112663428226634282Human2name
156416909CV1908738single nucleotide variantNM_031418.4(ANO3):c.1997A>G (p.His666Arg)Dystonic disorder [RCV002610422]uncertain significance112663502426635024Human2name
156360908CV1925523single nucleotide variantNM_031418.4(ANO3):c.1708G>A (p.Val570Met)Dystonic disorder [RCV002651630]uncertain significance112659958626599586Human2name
156055156CV1935096single nucleotide variantNM_031418.4(ANO3):c.1339A>T (p.Lys447Ter)not specified [RCV002510383]uncertain significance112655329826553298Humanname
156438638CV1947252single nucleotide variantNM_031418.4(ANO3):c.2157G>A (p.Trp719Ter)Dystonic disorder [RCV003108584]uncertain significance112664191126641911Human2name
155967926CV1947850single nucleotide variantNM_031418.4(ANO3):c.1102C>T (p.Arg368Cys)Dystonic disorder [RCV003111724]|Inborn genetic diseases [RCV002945526]uncertain significance112654201626542016Human3name
156388859CV1989923single nucleotide variantNM_031418.4(ANO3):c.2159G>A (p.Trp720Ter)Dystonic disorder [RCV002604492]uncertain significance112664191326641913Human2name
156038099CV1998873single nucleotide variantNM_031418.4(ANO3):c.1256A>G (p.Tyr419Cys)Dystonic disorder [RCV002658928]|Inborn genetic diseases [RCV004066812]uncertain significance112654751726547517Human3name
156010107CV2039061single nucleotide variantNM_031418.4(ANO3):c.1655C>T (p.Ser552Leu)Dystonic disorder [RCV002795053]uncertain significance112659898226598982Human2name
156125036CV2040063single nucleotide variantNM_031418.4(ANO3):c.1585C>A (p.Pro529Thr)Dystonia 24 [RCV003138353]|Dystonic disorder [RCV002785944]uncertain significance112659891226598912Human3name , alternate_id
156010612CV2051396single nucleotide variantNM_031418.4(ANO3):c.2182G>T (p.Gly728Ter)Dystonic disorder [RCV002820102]uncertain significance112664193626641936Human2name
156196370CV2095362single nucleotide variantNM_031418.4(ANO3):c.1484G>A (p.Ser495Asn)Dystonic disorder [RCV002917631]uncertain significance112659840126598401Human2name
155982061CV2098141single nucleotide variantNM_031418.4(ANO3):c.2353A>T (p.Ile785Phe)Dystonic disorder [RCV002907756]uncertain significance112664325926643259Human2name
156214820CV2171168single nucleotide variantNM_031418.4(ANO3):c.2840G>A (p.Arg947Gln)Dystonic disorder [RCV003042477]uncertain significance112666033826660338Human2name
156265278CV2189155single nucleotide variantNM_031418.4(ANO3):c.2426T>G (p.Ile809Arg)Dystonic disorder [RCV003044262]uncertain significance112664333226643332Human2name
156159178CV2236192single nucleotide variantNM_031418.4(ANO3):c.1460T>C (p.Leu487Pro)Inborn genetic diseases [RCV002787376]uncertain significance112659837726598377Human1name
155913429CV2245839single nucleotide variantNM_031418.4(ANO3):c.1425T>G (p.Phe475Leu)Inborn genetic diseases [RCV002771891]uncertain significance112655975726559757Human1name
156001920CV2257905single nucleotide variantNM_031418.4(ANO3):c.1761C>G (p.Ile587Met)Inborn genetic diseases [RCV002794590]uncertain significance112659963926599639Human1name
156368939CV2267119single nucleotide variantNM_031418.4(ANO3):c.2609C>A (p.Ser870Tyr)Inborn genetic diseases [RCV002813995]uncertain significance112665615726656157Human1name
156074017CV2294708single nucleotide variantNM_031418.4(ANO3):c.2187A>G (p.Ile729Met)Inborn genetic diseases [RCV002887047]uncertain significance112664194126641941Human1name
156185398CV2294944single nucleotide variantNM_031418.4(ANO3):c.1813A>G (p.Ile605Val)Inborn genetic diseases [RCV002892218]likely benign112659969126599691Human1name
243051869CV2404177single nucleotide variantNM_031418.4(ANO3):c.2118C>A (p.Asn706Lys)not provided [RCV003129203]uncertain significance112663921826639218Humanname
243063406CV2411723single nucleotide variantNM_031418.4(ANO3):c.2858T>C (p.Val953Ala)Dystonia 24 [RCV003141446]uncertain significance112666035626660356Human1name , alternate_id
243054364CV2418572single nucleotide variantNM_031418.4(ANO3):c.2365C>G (p.Leu789Val)not provided [RCV003154560]uncertain significance112664327126643271Humanname
329351345CV2476486single nucleotide variantNM_031418.4(ANO3):c.2120A>G (p.Asn707Ser)not provided [RCV003222718]uncertain significance112663922026639220Humanname
401795770CV2741042single nucleotide variantNM_001313726.2(ANO3):c.46T>C (p.Phe16Leu)not provided [RCV003322206]uncertain significance112618922226189222Humanname
401862532CV2768327single nucleotide variantNM_031418.4(ANO3):c.2938T>C (p.Trp980Arg)Inborn genetic diseases [RCV003343271]uncertain significance112666043626660436Human1name
405160391CV2856313single nucleotide variantNM_031418.4(ANO3):c.2095A>T (p.Met699Leu)Dystonic disorder [RCV003586681]uncertain significance112663919526639195Human2name
405163750CV2876638single nucleotide variantNM_031418.4(ANO3):c.2474T>C (p.Ile825Thr)Dystonic disorder [RCV003586953]uncertain significance112664775426647754Human2name
405164408CV2879528single nucleotide variantNM_031418.4(ANO3):c.1050C>G (p.Ser350Arg)Dystonic disorder [RCV003586906]|Inborn genetic diseases [RCV004654248]uncertain significance112654196426541964Human3name
405168431CV2892913single nucleotide variantNM_031418.4(ANO3):c.2203C>A (p.Pro735Thr)Dystonic disorder [RCV003587224]uncertain significance112664195726641957Human2name
405172060CV2915779single nucleotide variantNM_031418.4(ANO3):c.2311G>T (p.Ala771Ser)Dystonic disorder [RCV003587694]uncertain significance112664321726643217Human2name
405249637CV2980399single nucleotide variantNM_031418.4(ANO3):c.1699G>C (p.Gly567Arg)Dystonic disorder [RCV003747211]pathogenic112659957726599577Human2name
405249477CV2985752single nucleotide variantNM_031418.4(ANO3):c.1523A>T (p.Glu508Val)Dystonic disorder [RCV003747143]uncertain significance112659844026598440Human2name
405250203CV2993045single nucleotide variantNM_031418.4(ANO3):c.1852G>A (p.Ala618Thr)Dystonic disorder [RCV003747311]uncertain significance112662447726624477Human2name
405250092CV3012367single nucleotide variantNM_031418.4(ANO3):c.1957A>G (p.Ile653Val)Dystonic disorder [RCV003747403]uncertain significance112663428726634287Human2name
405246941CV3029322single nucleotide variantNM_031418.4(ANO3):c.1883G>C (p.Arg628Pro)Dystonic disorder [RCV003746172]uncertain significance112663421326634213Human2name
405247325CV3039095single nucleotide variantNM_031418.4(ANO3):c.1756T>G (p.Phe586Val)Dystonic disorder [RCV003746327]uncertain significance112659963426599634Human2name
405247328CV3039229single nucleotide variantNM_031418.4(ANO3):c.2839C>T (p.Arg947Ter)Dystonic disorder [RCV003746328]uncertain significance112666033726660337Human2name
405247506CV3047001single nucleotide variantNM_031418.4(ANO3):c.1010T>C (p.Ile337Thr)Dystonic disorder [RCV003746396]uncertain significance112653743926537439Human2name
405247487CV3053726single nucleotide variantNM_031418.4(ANO3):c.1114T>C (p.Trp372Arg)Dystonic disorder [RCV003746389]uncertain significance112654202826542028Human2name
405250346CV3061159single nucleotide variantNM_031418.4(ANO3):c.2413C>T (p.Arg805Ter)Dystonic disorder [RCV003747487]uncertain significance112664331926643319Human2name
405250279CV3067465single nucleotide variantNM_031418.4(ANO3):c.1883G>A (p.Arg628Gln)Dystonic disorder [RCV003747459]uncertain significance112663421326634213Human2name
405250316CV3067769single nucleotide variantNM_031418.4(ANO3):c.1675T>C (p.Ser559Pro)Dystonic disorder [RCV003747474]|Inborn genetic diseases [RCV004654322]uncertain significance112659955326599553Human3name
405267564CV3186860single nucleotide variantNM_031418.4(ANO3):c.2566C>T (p.Pro856Ser)not provided [RCV003886943]likely benign112664784626647846Humanname
405695409CV3282482single nucleotide variantNM_031418.4(ANO3):c.1237G>T (p.Gly413Cys)Inborn genetic diseases [RCV004424443]uncertain significance112654749826547498Human1name
405695415CV3282483single nucleotide variantNM_031418.4(ANO3):c.2708C>T (p.Thr903Ile)Inborn genetic diseases [RCV004424444]uncertain significance112665642626656426Human1name
405695421CV3282484single nucleotide variantNM_031418.4(ANO3):c.2828A>G (p.His943Arg)Inborn genetic diseases [RCV004424445]uncertain significance112666032626660326Human1name
407427612CV3410761single nucleotide variantNM_031418.4(ANO3):c.2090T>A (p.Val697Asp)Dystonia 24 [RCV004586408]uncertain significance112663919026639190Human1name , alternate_id
408366065CV3500089single nucleotide variantNM_031418.4(ANO3):c.2939G>A (p.Trp980Ter)not provided [RCV004722132]uncertain significance112666043726660437Humanname
408373696CV3502328single nucleotide variantNM_031418.4(ANO3):c.2458G>T (p.Gly820Cys)not provided [RCV004725915]uncertain significance112664773826647738Humanname
408390029CV3519165single nucleotide variantNM_031418.4(ANO3):c.2326C>T (p.Pro776Ser)not provided [RCV004762474]uncertain significance112664323226643232Humanname
408383831CV3520000single nucleotide variantNM_031418.4(ANO3):c.1228G>C (p.Ala410Pro)not provided [RCV004759821]uncertain significance112654748926547489Humanname
408380840CV3521575single nucleotide variantNM_001313726.2(ANO3):c.58C>T (p.His20Tyr)Dystonia 24 [RCV004764373]|not provided [RCV005242588]pathogenic|benign|uncertain significance112618923426189234Human1name , alternate_id
408380762CV3523651single nucleotide variantNM_031418.4(ANO3):c.2723A>G (p.His908Arg)not provided [RCV004766049]uncertain significance112665644126656441Humanname
408382821CV3526766single nucleotide variantNM_031418.4(ANO3):c.1399T>A (p.Phe467Ile)not provided [RCV004772079]uncertain significance112655973126559731Humanname
596921768CV3535394single nucleotide variantNM_031418.4(ANO3):c.2191G>A (p.Asp731Asn)Dystonia 24 [RCV004784949]uncertain significance112664194526641945Human1name , alternate_id
596922699CV3537355single nucleotide variantNM_031418.4(ANO3):c.1434T>A (p.Phe478Leu)not provided [RCV004787325]uncertain significance112655976626559766Humanname
596932568CV3539190single nucleotide variantNM_031418.4(ANO3):c.1513G>A (p.Glu505Lys)not provided [RCV004793316]uncertain significance112659843026598430Humanname
596945110CV3543721single nucleotide variantNM_031418.4(ANO3):c.1765C>T (p.Gln589Ter)not provided [RCV004801843]uncertain significance112659964326599643Humanname
597648348CV3551710single nucleotide variantNM_031418.4(ANO3):c.1290C>G (p.Ser430Arg)not provided [RCV004820423]uncertain significance112655324926553249Humanname
597710363CV3555044single nucleotide variantNM_031418.4(ANO3):c.1040A>G (p.Tyr347Cys)Inborn genetic diseases [RCV004958982]uncertain significance112654195426541954Human1name
597710412CV3555052single nucleotide variantNM_031418.4(ANO3):c.2180G>A (p.Arg727Gln)Dystonic disorder [RCV005107566]|Inborn genetic diseases [RCV004958989]uncertain significance112664193426641934Human3name
597710418CV3555062single nucleotide variantNM_031418.4(ANO3):c.2650T>C (p.Tyr884His)Inborn genetic diseases [RCV004958990]uncertain significance112665619826656198Human1name
12834093CV371378single nucleotide variantNM_031418.4(ANO3):c.1088A>G (p.His363Arg)not provided [RCV000419761]uncertain significance112654200226542002Humanname
597906997CV3773126single nucleotide variantNM_031418.4(ANO3):c.1310C>T (p.Thr437Ile)Dystonic disorder [RCV005113191]uncertain significance112655326926553269Human2name
597964275CV3792193single nucleotide variantNM_031418.4(ANO3):c.2359A>G (p.Ile787Val)Dystonic disorder [RCV005139751]uncertain significance112664326526643265Human2name
597873158CV3805444single nucleotide variantNM_031418.4(ANO3):c.1364A>G (p.Asn455Ser)Dystonic disorder [RCV005148722]uncertain significance112655332326553323Human2name
597919427CV3811647single nucleotide variantNM_031418.4(ANO3):c.2738G>A (p.Arg913Lys)Dystonic disorder [RCV005155478]uncertain significance112665645626656456Human2name
597941993CV3837212single nucleotide variantNM_031418.4(ANO3):c.2216A>G (p.Asn739Ser)Dystonic disorder [RCV005188043]uncertain significance112664197026641970Human2name
597936090CV3845367single nucleotide variantNM_031418.4(ANO3):c.1570A>G (p.Met524Val)Dystonic disorder [RCV005186680]uncertain significance112659889726598897Human2name
597964642CV3848117single nucleotide variantNM_031418.4(ANO3):c.2284T>C (p.Phe762Leu)Dystonic disorder [RCV005193996]uncertain significance112664319026643190Human2name
597893166CV3856731single nucleotide variantNM_031418.4(ANO3):c.1384A>G (p.Lys462Glu)Dystonic disorder [RCV005200799]uncertain significance112655334326553343Human2name
597878753CV3860453single nucleotide variantNM_031418.4(ANO3):c.2890C>T (p.His964Tyr)Dystonic disorder [RCV005198662]uncertain significance112666038826660388Human2name
598127465CV3888198single nucleotide variantNM_031418.4(ANO3):c.2027G>A (p.Arg676Gln)not provided [RCV005242884]likely benign112663505426635054Humanname
598123838CV3890453single nucleotide variantNM_031418.4(ANO3):c.1506C>A (p.Asp502Glu)not provided [RCV005250972]uncertain significance112659842326598423Humanname
598179800CV3993751single nucleotide variantNM_031418.4(ANO3):c.2822G>T (p.Gly941Val)Inborn genetic diseases [RCV005372003]uncertain significance112666032026660320Human1name
598213931CV3993754single nucleotide variantNM_031418.4(ANO3):c.1294G>C (p.Glu432Gln)Inborn genetic diseases [RCV005378451]uncertain significance112655325326553253Human1name
598213936CV3993756single nucleotide variantNM_031418.4(ANO3):c.1775A>C (p.Gln592Pro)Inborn genetic diseases [RCV005378452]uncertain significance112659965326599653Human1name
598179819CV3993758single nucleotide variantNM_031418.4(ANO3):c.1475G>A (p.Arg492Lys)Inborn genetic diseases [RCV005372007]uncertain significance112659839226598392Human1name
13445924CV437888single nucleotide variantNM_031418.4(ANO3):c.2267T>C (p.Leu756Ser)not provided [RCV000513039]uncertain significance112664202126642021Humanname
13446143CV437889single nucleotide variantNM_031418.4(ANO3):c.2812G>A (p.Val938Ile)Dystonic disorder [RCV000811628]|not provided [RCV000513327]uncertain significance112666031026660310Human2name
13481199CV444787single nucleotide variantNM_031418.4(ANO3):c.2453G>C (p.Gly818Ala)Dystonic disorder [RCV003746534]|not provided [RCV000521445]uncertain significance112664773326647733Human2name
13488331CV460999single nucleotide variantNM_031418.4(ANO3):c.1807A>G (p.Asn603Asp)Dystonia 24 [RCV003338647]|Dystonic disorder [RCV000554751]uncertain significance112659968526599685Human3name , alternate_id
13473906CV461140single nucleotide variantNM_031418.4(ANO3):c.1215G>A (p.Met405Ile)Dystonic disorder [RCV000525591]|Inborn genetic diseases [RCV004023743]|not provided [RCV001555126]uncertain significance112654747626547476Human3name
8604261CV48095single nucleotide variantNM_031418.4(ANO3):c.1480A>T (p.Arg494Trp)Dystonia 24 [RCV000032692]pathogenic112659839726598397Human1name , alternate_id
8570466CV48096single nucleotide variantNM_031418.4(ANO3):c.1470G>T (p.Trp490Cys)Dystonia 24 [RCV000032693]pathogenic112659838726598387Human1name , alternate_id
8604262CV48097single nucleotide variantNM_031418.4(ANO3):c.2053A>G (p.Ser685Gly)Dystonia 24 [RCV000032694]pathogenic112663915326639153Human1name , alternate_id
8570467CV48098single nucleotide variantNM_031418.4(ANO3):c.2586G>T (p.Lys862Asn)Dystonia 24 [RCV000032695]pathogenic112665613426656134Human1name , alternate_id
13530713CV511909single nucleotide variantNM_031418.4(ANO3):c.1819A>T (p.Ile607Phe)Dystonia 24 [RCV005253001]|Inborn genetic diseases [RCV000622714]|not provided [RCV001268150]pathogenic|likely pathogenic|uncertain significance112659969726599697Human2name , alternate_id
13612369CV526222single nucleotide variantNM_031418.4(ANO3):c.1234G>A (p.Val412Ile)Dystonic disorder [RCV000630708]uncertain significance112654749526547495Human2name
13612378CV526235single nucleotide variantNM_031418.4(ANO3):c.1795G>C (p.Ala599Pro)Dystonic disorder [RCV000630710]uncertain significance112659967326599673Human2name
13706011CV537150single nucleotide variantNM_031418.4(ANO3):c.1507C>G (p.Leu503Val)not provided [RCV000658588]uncertain significance112659842426598424Humanname
14706620CV639916single nucleotide variantNM_031418.4(ANO3):c.1003T>A (p.Ser335Thr)Dystonic disorder [RCV000792056]|not provided [RCV004773145]uncertain significance112653743226537432Human2name
14732713CV639917single nucleotide variantNM_031418.4(ANO3):c.1111C>T (p.Arg371Cys)Dystonic disorder [RCV000801957]|not provided [RCV003326495]uncertain significance112654202526542025Human2name
14733902CV639918single nucleotide variantNM_031418.4(ANO3):c.1522G>T (p.Glu508Ter)Dystonic disorder [RCV000818899]uncertain significance112659843926598439Human2name
14717052CV639919single nucleotide variantNM_031418.4(ANO3):c.1528G>A (p.Glu510Lys)Dystonia 24 [RCV000995494]|Dystonic disorder [RCV000795317]|not provided [RCV004719992]pathogenic|likely pathogenic112659844526598445Human3name , alternate_id
14703077CV639920single nucleotide variantNM_031418.4(ANO3):c.1943A>G (p.Asn648Ser)Dystonia 24 [RCV003336201]|Dystonic disorder [RCV000807199]pathogenic|likely pathogenic|uncertain significance112663427326634273Human3name , alternate_id
14728119CV639921single nucleotide variantNM_031418.4(ANO3):c.2301C>G (p.Ile767Met)Dystonic disorder [RCV000799910]|not provided [RCV004777874]uncertain significance112664320726643207Human2name
21073933CV796560single nucleotide variantNM_031418.4(ANO3):c.1831A>T (p.Asn611Tyr)not provided [RCV000994589]uncertain significance112659970926599709Humanname
21073936CV796562single nucleotide variantNM_031418.4(ANO3):c.2426T>C (p.Ile809Thr)not provided [RCV000994591]uncertain significance112664333226643332Humanname
21074727CV798641single nucleotide variantNM_031418.4(ANO3):c.1969G>A (p.Ala657Thr)Dystonia 24 [RCV000995495]|Dystonic disorder [RCV005093001]likely pathogenic112663429926634299Human3name , alternate_id
26916633CV838245single nucleotide variantNM_031418.4(ANO3):c.2014A>G (p.Lys672Glu)Dystonic disorder [RCV001056469]uncertain significance112663504126635041Human2name
26893879CV838246single nucleotide variantNM_031418.4(ANO3):c.2905C>T (p.Arg969Trp)Dystonic disorder [RCV001069167]|not provided [RCV003313178]uncertain significance112666040326660403Human2name
28884094CV859863single nucleotide variantNM_031418.4(ANO3):c.2767C>T (p.Leu923Phe)Dystonic disorder [RCV005093459]|not provided [RCV001091516]uncertain significance112666026526660265Human2name
34891405CV904555single nucleotide variantNM_031418.4(ANO3):c.1735T>A (p.Phe579Ile)not provided [RCV001172047]uncertain significance112659961326599613Humanname
38460933CV919354single nucleotide variantNM_031418.4(ANO3):c.1882C>T (p.Arg628Ter)Dystonia 24 [RCV001197046]uncertain significance112663421226634212Human1name , alternate_id
126767278CV994450single nucleotide variantNM_031418.4(ANO3):c.1535C>T (p.Thr512Ile)Dystonic disorder [RCV001302221]uncertain significance112659886226598862Human2name
126740143CV994451single nucleotide variantNM_031418.4(ANO3):c.2609C>T (p.Ser870Phe)Dystonia 24 [RCV001810022]|Dystonic disorder [RCV001305233]|Inborn genetic diseases [RCV002543125]uncertain significance112665615726656157Human4name , alternate_id
153346338CV1693562single nucleotide variantNM_001313726.2(ANO3):c.104C>G (p.Ser35Cys)not provided [RCV002275488]uncertain significance112618928026189280Humanname
596927489CV3541102single nucleotide variantNM_001313726.2(ANO3):c.118C>T (p.Gln40Ter)Dystonia 24 [RCV004796972]uncertain significance112618929426189294Human1name , alternate_id
150415912CV1191212insertionNM_031418.4(ANO3):c.1290-26_1290-25insTTTTTnot provided [RCV001568197]likely benign112655321926553220Humanname
156328892CV2116298indelNM_031418.4(ANO3):c.1290-14_1290-13delinsGTDystonic disorder [RCV002938250]likely benign112655323526553236Humanname
408389920CV3519135deletionNM_031418.4(ANO3):c.427_430del (p.Ser143fs)not provided [RCV004762444]uncertain significance112646314126463144Humanname
152088834CV1655766microsatelliteNM_031418.4(ANO3):c.2897AAC[2] (p.Gln968del)Dystonic disorder [RCV002194025]likely benign112666039426660396Humanname
13805611CV565646deletionNM_031418.4(ANO3):c.1479_1481del (p.Arg494del)Dystonic disorder [RCV000685804]uncertain significance112659839426598396Human2name
408392713CV3528255indelNM_031418.4(ANO3):c.2945_2946delinsGC (p.Ter982Cys)not provided [RCV004776023]uncertain significance112666044326660444Humanname
407426966CV3411766duplicationNM_031418.4(ANO3):c.1415_1423dup (p.Phe474_Phe475insSerValPhe)not provided [RCV004590944]uncertain significance112655974626559747Humanname