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


200 records found for search term Pdyn
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
11652414CV334875single nucleotide variantNM_024411.5(PDYN):c.-42A>TSpinocerebellar ataxia type 23 [RCV000304722]uncertain significance2019926061992606Human1name
28890820CV885856single nucleotide variantNM_024411.5(PDYN):c.*78A>GSpinocerebellar ataxia type 23 [RCV001139161]benign2019802451980245Human1name
28890823CV885857single nucleotide variantNM_024411.5(PDYN):c.*65C>GSpinocerebellar ataxia type 23 [RCV001139162]uncertain significance2019802581980258Human1name
28890826CV885858single nucleotide variantNM_024411.5(PDYN):c.*33A>CSpinocerebellar ataxia type 23 [RCV001139163]likely benign2019802901980290Human1name
28883786CV885867single nucleotide variantNM_024411.5(PDYN):c.-43G>ASpinocerebellar ataxia type 23 [RCV001137021]uncertain significance2019926071992607Human1name
11612909CV334850single nucleotide variantNM_024411.5(PDYN):c.*743T>CSpinocerebellar ataxia type 23 [RCV000263533]|not provided [RCV004717352]benign2019795801979580Human1name
11661741CV334857single nucleotide variantNM_024411.5(PDYN):c.*522C>TSpinocerebellar ataxia type 23 [RCV000379350]uncertain significance2019798011979801Human1name
11616007CV334867single nucleotide variantNM_024411.5(PDYN):c.*346G>ASpinocerebellar ataxia type 23 [RCV000290894]|not provided [RCV004694595]uncertain significance2019799771979977Human1name
11620134CV334880single nucleotide variantNM_024411.4(PDYN):c.-382C>TAutosomal dominant cerebellar ataxia [RCV000333444]likely benign2019942131994213Human1name
11632213CV344728single nucleotide variantNM_024411.5(PDYN):c.*836C>GSpinocerebellar ataxia type 23 [RCV000400841]benign|likely benign2019794871979487Human1name
11630606CV344729single nucleotide variantNM_024411.5(PDYN):c.*771T>CSpinocerebellar ataxia type 23 [RCV000353637]|not provided [RCV004717351]benign2019795521979552Human1name
11630785CV344733single nucleotide variantNM_024411.5(PDYN):c.*656T>CSpinocerebellar ataxia type 23 [RCV000359519]|not provided [RCV004717353]benign|likely benign2019796671979667Human1name
11645296CV344736single nucleotide variantNM_024411.5(PDYN):c.*561C>TSpinocerebellar ataxia type 23 [RCV000264902]uncertain significance2019797621979762Human1name
11631625CV344742single nucleotide variantNM_024411.5(PDYN):c.*356T>CSpinocerebellar ataxia type 23 [RCV000384132]|not provided [RCV004717354]benign|likely benign2019799671979967Human1name
11656315CV344744single nucleotide variantNM_024411.5(PDYN):c.*261C>TSpinocerebellar ataxia type 23 [RCV000331910]uncertain significance2019800621980062Human1name
11631085CV344752single nucleotide variantNM_024411.4(PDYN):c.-358G>AAutosomal dominant cerebellar ataxia [RCV000368252]uncertain significance2019941891994189Human1name
11631790CV344754single nucleotide variantNM_024411.4(PDYN):c.-402C>GAutosomal dominant cerebellar ataxia [RCV000388020]uncertain significance2019942331994233Human1name
11631705CV349710single nucleotide variantNM_024411.5(PDYN):c.*231C>GSpinocerebellar ataxia type 23 [RCV000386330]|not provided [RCV002263613]benign|uncertain significance2019800921980092Human1name
11660081CV349714single nucleotide variantNM_024411.5(PDYN):c.-162A>GSpinocerebellar ataxia type 23 [RCV000364098]uncertain significance2019939931993993Human1name
11626746CV349717single nucleotide variantNM_024411.4(PDYN):c.-241G>CAutosomal dominant cerebellar ataxia [RCV000269505]uncertain significance2019940721994072Human1name
11655910CV349719single nucleotide variantNM_024411.4(PDYN):c.-286G>CAutosomal dominant cerebellar ataxia [RCV000329214]uncertain significance2019941171994117Human1name
11630583CV350697single nucleotide variantNM_024411.5(PDYN):c.*847T>CSpinocerebellar ataxia type 23 [RCV000352319]uncertain significance2019794761979476Human1name
11651441CV350698single nucleotide variantNM_024411.5(PDYN):c.*827A>GSpinocerebellar ataxia type 23 [RCV000298858]uncertain significance2019794961979496Human1name
11629494CV350702single nucleotide variantNM_024411.5(PDYN):c.*556C>TSpinocerebellar ataxia type 23 [RCV000324808]benign|likely benign2019797671979767Human1name
11629499CV350705single nucleotide variantNM_024411.5(PDYN):c.*369A>GSpinocerebellar ataxia type 23 [RCV000324951]benign|likely benign2019799541979954Human1name
11628207CV350706single nucleotide variantNM_024411.5(PDYN):c.*138A>GSpinocerebellar ataxia type 23 [RCV000296775]|not provided [RCV001709608]benign|likely benign2019801851980185Human1name
11630522CV350709single nucleotide variantNM_024411.5(PDYN):c.*103C>TSpinocerebellar ataxia type 23 [RCV000351495]|not provided [RCV004694596]uncertain significance2019802201980220Human1name
11627013CV350714single nucleotide variantNM_024411.4(PDYN):c.-381A>GAutosomal dominant cerebellar ataxia [RCV000273681]benign2019942121994212Human1name
28897664CV885847single nucleotide variantNM_024411.5(PDYN):c.*872C>ASpinocerebellar ataxia type 23 [RCV001141669]uncertain significance2019794511979451Human1name
28897669CV885848single nucleotide variantNM_024411.5(PDYN):c.*760G>CSpinocerebellar ataxia type 23 [RCV001141670]|not provided [RCV003438674]benign|uncertain significance2019795631979563Human1name
28902221CV885849single nucleotide variantNM_024411.5(PDYN):c.*671T>CSpinocerebellar ataxia type 23 [RCV001143492]uncertain significance2019796521979652Human1name
28902224CV885850single nucleotide variantNM_024411.5(PDYN):c.*670A>TSpinocerebellar ataxia type 23 [RCV001143493]uncertain significance2019796531979653Human1name
28902228CV885851single nucleotide variantNM_024411.5(PDYN):c.*636G>CSpinocerebellar ataxia type 23 [RCV001143494]uncertain significance2019796871979687Human1name
28883422CV885852single nucleotide variantNM_024411.5(PDYN):c.*556C>ASpinocerebellar ataxia type 23 [RCV001136917]uncertain significance2019797671979767Human1name
28883425CV885853single nucleotide variantNM_024411.5(PDYN):c.*389A>TSpinocerebellar ataxia type 23 [RCV001136918]uncertain significance2019799341979934Human1name
28883429CV885854single nucleotide variantNM_024411.5(PDYN):c.*320C>TSpinocerebellar ataxia type 23 [RCV001136919]uncertain significance2019800031980003Human1name
28890816CV885855single nucleotide variantNM_024411.5(PDYN):c.*225T>CSpinocerebellar ataxia type 23 [RCV001139160]benign2019800981980098Human1name
155268219CV1705301single nucleotide variantNM_024411.5(PDYN):c.129+1G>Anot provided [RCV002285906]uncertain significance2019829551982955Humanname
156225438CV2080783single nucleotide variantNM_024411.5(PDYN):c.129+3A>Gnot provided [RCV002876033]uncertain significance2019829531982953Humanname
401919661CV2827037single nucleotide variantNM_024411.5(PDYN):c.-19-9C>Tnot provided [RCV003431226]uncertain significance2019831121983112Humanname
11644921CV334842single nucleotide variantNM_024411.5(PDYN):c.*1532C>TSpinocerebellar ataxia type 23 [RCV000262123]uncertain significance2019787911978791Human1name
11621300CV334848single nucleotide variantNM_024411.5(PDYN):c.*1071G>ASpinocerebellar ataxia type 23 [RCV000346631]|not provided [RCV003437076]benign|uncertain significance2019792521979252Human1name
11629394CV344718single nucleotide variantNM_024411.5(PDYN):c.*1443G>ASpinocerebellar ataxia type 23 [RCV000321841]|not provided [RCV004717349]benign|likely benign2019788801978880Human1name
11632233CV344725single nucleotide variantNM_024411.5(PDYN):c.*1030C>TSpinocerebellar ataxia type 23 [RCV000401555]|not provided [RCV004717350]benign2019792931979293Human1name
11631388CV349705single nucleotide variantNM_024411.5(PDYN):c.*1396C>TSpinocerebellar ataxia type 23 [RCV000376552]benign|likely benign2019789271978927Human1name
11657498CV349706single nucleotide variantNM_024411.5(PDYN):c.*1274T>GSpinocerebellar ataxia type 23 [RCV000341566]uncertain significance2019790491979049Human1name
11631619CV349709single nucleotide variantNM_024411.5(PDYN):c.*1238A>TAutosomal dominant cerebellar ataxia [RCV000382262]likely benign2019790851979085Human1name
11627642CV350693single nucleotide variantNM_024411.5(PDYN):c.*1394C>ASpinocerebellar ataxia type 23 [RCV000286614]benign|likely benign2019789291978929Human1name
11627752CV350695single nucleotide variantNM_024411.5(PDYN):c.*1157T>GSpinocerebellar ataxia type 23 [RCV000287865]uncertain significance2019791661979166Human1name
11628898CV350696single nucleotide variantNM_024411.5(PDYN):c.*1029A>GSpinocerebellar ataxia type 23 [RCV000311521]benign|likely benign2019792941979294Human1name
14693671CV620917single nucleotide variantNM_024411.5(PDYN):c.-19-1G>Cnot specified [RCV003323721]uncertain significance2019831041983104Humanname
15177320CV776925single nucleotide variantNM_024411.5(PDYN):c.129+8T>Cnot provided [RCV000929127]likely benign2019829481982948Humanname
28883067CV885843single nucleotide variantNM_024411.5(PDYN):c.*1457C>GSpinocerebellar ataxia type 23 [RCV001136814]benign2019788661978866Human1name
28883070CV885844single nucleotide variantNM_024411.5(PDYN):c.*1394C>TSpinocerebellar ataxia type 23 [RCV001136815]uncertain significance2019789291978929Human1name
28890496CV885845single nucleotide variantNM_024411.5(PDYN):c.*1336G>CSpinocerebellar ataxia type 23 [RCV001139057]uncertain significance2019789871978987Human1name
28890498CV885846single nucleotide variantNM_024411.5(PDYN):c.*1065C>TSpinocerebellar ataxia type 23 [RCV001139058]uncertain significance2019792581979258Human1name
126913450CV1038755single nucleotide variantNM_024411.5(PDYN):c.-80+226T>Cnot provided [RCV001357385]uncertain significance2019936851993685Humanname
150501710CV1224261single nucleotide variantNM_024411.5(PDYN):c.130-171G>Anot provided [RCV001620902]benign2019811291981129Humanname
150462400CV1253368single nucleotide variantNM_024411.5(PDYN):c.129+189C>Tnot provided [RCV001669697]benign2019827671982767Humanname
150515545CV1285577single nucleotide variantNM_024411.5(PDYN):c.-19-246T>Cnot provided [RCV001723030]benign2019833491983349Humanname
11628369CV350701deletionNM_024411.5(PDYN):c.*700_*703delAutosomal dominant cerebellar ataxia [RCV000300116]uncertain significance2019796201979623Human1name
156367269CV2190330single nucleotide variantNM_024411.5(PDYN):c.2T>C (p.Met1Thr)not provided [RCV003066034]uncertain significance2019830831983083Humanname
21067100CV793819single nucleotide variantNM_024411.5(PDYN):c.72G>A (p.Ser24=)not provided [RCV000992515]benign2019830131983013Humanname
41406936CV983198single nucleotide variantNM_024411.5(PDYN):c.67C>T (p.Leu23=)PDYN-related disorder [RCV003928823]|not provided [RCV002070093]|not specified [RCV001289122]benign|likely benign2019830181983018Human1name , trait , alternate_id
152166025CV1618228single nucleotide variantNM_024411.5(PDYN):c.192C>T (p.Ser64=)not provided [RCV002204362]likely benign2019808961980896Humanname
152124889CV1640489single nucleotide variantNM_024411.5(PDYN):c.162G>T (p.Leu54=)not provided [RCV002176054]likely benign2019809261980926Humanname
152162908CV1648074single nucleotide variantNM_024411.5(PDYN):c.162G>A (p.Leu54=)not provided [RCV002123522]likely benign2019809261980926Humanname
156033486CV1932527single nucleotide variantNM_024411.5(PDYN):c.120C>T (p.Ile40=)not provided [RCV002637268]likely benign2019829651982965Humanname
402473325CV3172157single nucleotide variantNM_024411.5(PDYN):c.294C>A (p.Leu98=)not provided [RCV003874760]likely benign2019807941980794Humanname
597857682CV3793470single nucleotide variantNM_024411.5(PDYN):c.17T>C (p.Leu6Pro)not provided [RCV005132126]uncertain significance2019830681983068Humanname
13216853CV430285deletionNM_024411.5(PDYN):c.34del (p.Leu12fs)not provided [RCV003766842]|not specified [RCV000504081]uncertain significance2019830511983051Humanname
15189004CV742279single nucleotide variantNM_024411.5(PDYN):c.138C>T (p.Ser46=)not provided [RCV000909527]likely benign2019809501980950Humanname
15193066CV773013single nucleotide variantNM_024411.5(PDYN):c.198G>A (p.Leu66=)not provided [RCV000933262]likely benign2019808901980890Humanname
28902490CV885865single nucleotide variantNM_024411.5(PDYN):c.244T>C (p.Leu82=)Spinocerebellar ataxia type 23 [RCV001143593]uncertain significance2019808441980844Human1name
150432296CV1246244single nucleotide variantNM_024411.5(PDYN):c.459T>C (p.Asp153=)not specified [RCV001663657]likely benign2019806291980629Humanname
150432299CV1246245single nucleotide variantNM_024411.5(PDYN):c.732G>A (p.Pro244=)not specified [RCV001663658]benign2019803561980356Humanname
150438611CV1274807single nucleotide variantNM_024411.5(PDYN):c.74G>A (p.Arg25Gln)not provided [RCV001703080]likely benign|uncertain significance2019830111983011Humanname
151350619CV1325733single nucleotide variantNM_024411.5(PDYN):c.80C>G (p.Ser27Cys)not specified [RCV001815078]uncertain significance2019830051983005Humanname
151878587CV1376046single nucleotide variantNM_024411.5(PDYN):c.71C>T (p.Ser24Leu)not provided [RCV002019852]uncertain significance2019830141983014Humanname
153303357CV1686195single nucleotide variantNM_024411.5(PDYN):c.80C>T (p.Ser27Phe)not provided [RCV002261628]uncertain significance2019830051983005Humanname
155801806CV1864117single nucleotide variantNM_024411.5(PDYN):c.68T>G (p.Leu23Arg)not provided [RCV002475069]uncertain significance2019830171983017Humanname
156347460CV1868475single nucleotide variantNM_024411.5(PDYN):c.65G>A (p.Cys22Tyr)not provided [RCV003064594]uncertain significance2019830201983020Humanname
155952088CV1922022single nucleotide variantNM_024411.5(PDYN):c.59C>T (p.Ala20Val)Inborn genetic diseases [RCV004961118]|not provided [RCV002616279]uncertain significance2019830261983026Human1name
156449655CV1941987single nucleotide variantNM_024411.5(PDYN):c.73C>T (p.Arg25Trp)Inborn genetic diseases [RCV005382602]|not provided [RCV003121781]conflicting interpretations of pathogenicity|uncertain significance2019830121983012Human1name
156213209CV1963096single nucleotide variantNM_024411.5(PDYN):c.489C>T (p.Leu163=)not provided [RCV002575231]likely benign2019805991980599Humanname
156294336CV2111572single nucleotide variantNM_024411.5(PDYN):c.88G>A (p.Ala30Thr)not provided [RCV002922283]uncertain significance2019829971982997Humanname
156351349CV2157539single nucleotide variantNM_024411.5(PDYN):c.41T>A (p.Met14Lys)not provided [RCV003030897]uncertain significance2019830441983044Humanname
156274037CV2164270single nucleotide variantNM_024411.5(PDYN):c.618C>G (p.Arg206=)not provided [RCV003027090]likely benign2019804701980470Humanname
401919572CV2827036single nucleotide variantNM_024411.5(PDYN):c.393G>A (p.Arg131=)not provided [RCV003431225]likely benign2019806951980695Humanname
402489532CV2861911single nucleotide variantNM_024411.5(PDYN):c.528G>A (p.Gly176=)not provided [RCV003544712]likely benign2019805601980560Humanname
405033479CV2922767single nucleotide variantNM_024411.5(PDYN):c.708G>A (p.Val236=)not provided [RCV003578535]likely benign2019803801980380Humanname
405078598CV2945409single nucleotide variantNM_024411.5(PDYN):c.378G>A (p.Leu126=)not provided [RCV003664436]likely benign2019807101980710Humanname
405252541CV3047351single nucleotide variantNM_024411.5(PDYN):c.729T>C (p.Asp243=)not provided [RCV003722259]likely benign2019803591980359Humanname
11646299CV334858indelNM_024411.5(PDYN):c.*449_*459delinsTAAAutosomal dominant cerebellar ataxia [RCV000269910]uncertain significance2019798641979874Humanname
11625360CV334872single nucleotide variantNM_024411.5(PDYN):c.600T>C (p.His200=)Spinocerebellar ataxia type 23 [RCV000606402]|not provided [RCV001523416]|not specified [RCV001289121]benign2019804881980488Human1name
11628521CV344746single nucleotide variantNM_024411.5(PDYN):c.483C>G (p.Leu161=)Spinocerebellar ataxia type 23 [RCV000303380]|not provided [RCV003105874]likely benign|uncertain significance2019806051980605Human1name
11631940CV344751single nucleotide variantNM_024411.5(PDYN):c.405C>T (p.Asp135=)Spinocerebellar ataxia type 23 [RCV000392614]|not provided [RCV002057727]likely benign|uncertain significance2019806831980683Human1name
407463725CV3470487single nucleotide variantNM_024411.5(PDYN):c.67C>G (p.Leu23Val)Inborn genetic diseases [RCV004659765]uncertain significance2019830181983018Human1name
11662896CV349713single nucleotide variantNM_024411.5(PDYN):c.501C>T (p.Asp167=)Spinocerebellar ataxia type 23 [RCV000390192]uncertain significance2019805871980587Human1name
597911187CV3844814single nucleotide variantNM_024411.5(PDYN):c.612C>T (p.Tyr204=)not provided [RCV005186320]likely benign2019804761980476Humanname
598260694CV4002655single nucleotide variantNM_024411.5(PDYN):c.98C>T (p.Thr33Ile)Inborn genetic diseases [RCV005386744]uncertain significance2019829871982987Human1name
13531501CV512442single nucleotide variantNM_024411.5(PDYN):c.53C>T (p.Thr18Ile)Inborn genetic diseases [RCV000623384]uncertain significance2019830321983032Human1name
13810645CV577833single nucleotide variantNM_024411.5(PDYN):c.691C>A (p.Arg231=)Spinocerebellar ataxia type 23 [RCV001141783]|not provided [RCV000712516]|not specified [RCV004997236]likely benign|uncertain significance2019803971980397Human1name
15169524CV716867single nucleotide variantNM_024411.5(PDYN):c.607C>T (p.Leu203=)not provided [RCV000971829]likely benign2019804811980481Humanname
15157432CV742277single nucleotide variantNM_024411.5(PDYN):c.582C>T (p.Asp194=)Spinocerebellar ataxia type 23 [RCV001141785]|not provided [RCV000902527]|not specified [RCV001289119]benign|likely benign|uncertain significance2019805061980506Human1name
15155778CV742278single nucleotide variantNM_024411.5(PDYN):c.300G>T (p.Gly100=)not provided [RCV000902204]likely benign2019807881980788Humanname
15149384CV757391single nucleotide variantNM_024411.5(PDYN):c.561A>C (p.Ser187=)not provided [RCV000923276]likely benign2019805271980527Humanname
15106190CV757392single nucleotide variantNM_024411.5(PDYN):c.444T>C (p.Asp148=)not provided [RCV000915698]likely benign2019806441980644Humanname
21068111CV797955single nucleotide variantNM_024411.5(PDYN):c.41T>C (p.Met14Thr)not provided [RCV000997731]uncertain significance2019830441983044Humanname
28902485CV885863single nucleotide variantNM_024411.5(PDYN):c.456C>T (p.Asn152=)Spinocerebellar ataxia type 23 [RCV001143591]|not provided [RCV001473757]likely benign2019806321980632Human1name
28883780CV885866single nucleotide variantNM_024411.5(PDYN):c.86G>T (p.Cys29Phe)Spinocerebellar ataxia type 23 [RCV001137020]uncertain significance2019829991982999Human1name
41406934CV983199single nucleotide variantNM_024411.5(PDYN):c.40A>G (p.Met14Val)not provided [RCV002070092]|not specified [RCV001289116]benign2019830451983045Humanname
150543933CV1309884single nucleotide variantNM_024411.5(PDYN):c.146G>A (p.Cys49Tyr)not provided [RCV003237626]uncertain significance2019809421980942Humanname
151748480CV1478851single nucleotide variantNM_024411.5(PDYN):c.209C>T (p.Thr70Ile)not provided [RCV002023114]uncertain significance2019808791980879Humanname
153304994CV1687441single nucleotide variantNM_024411.5(PDYN):c.135C>G (p.Cys45Trp)not provided [RCV002263261]uncertain significance2019809531980953Humanname
10044801CV188054single nucleotide variantNM_024411.5(PDYN):c.217A>G (p.Thr73Ala)Spinocerebellar ataxia type 23 [RCV000170442]likely pathogenic|uncertain significance2019808711980871Human1name
156446317CV1951354single nucleotide variantNM_024411.5(PDYN):c.271C>T (p.Pro91Ser)Inborn genetic diseases [RCV004245961]|not provided [RCV003117289]likely benign|uncertain significance2019808171980817Human1name
156115599CV2035501single nucleotide variantNM_024411.5(PDYN):c.154G>A (p.Ala52Thr)not provided [RCV002785578]uncertain significance2019809341980934Humanname
155996125CV2056435single nucleotide variantNM_024411.5(PDYN):c.104A>G (p.Asp35Gly)not provided [RCV002819430]uncertain significance2019829811982981Humanname
156028421CV2109083single nucleotide variantNM_024411.5(PDYN):c.137C>T (p.Ser46Phe)not provided [RCV002909951]uncertain significance2019809511980951Humanname
401894286CV2780594single nucleotide variantNM_024411.5(PDYN):c.293T>C (p.Leu98Pro)Inborn genetic diseases [RCV003371339]uncertain significance2019807951980795Human1name
401962701CV2845323single nucleotide variantNM_024411.5(PDYN):c.149A>G (p.Gln50Arg)not provided [RCV003482784]uncertain significance2019809391980939Humanname
401962702CV2845324single nucleotide variantNM_024411.5(PDYN):c.275A>G (p.Tyr92Cys)not provided [RCV003482785]uncertain significance2019808131980813Humanname
596926380CV3539817deletionNM_024411.5(PDYN):c.751del (p.Leu251fs)not provided [RCV004790808]uncertain significance2019803371980337Humanname
597713425CV3579230single nucleotide variantNM_024411.5(PDYN):c.250A>G (p.Ser84Gly)Inborn genetic diseases [RCV004959439]uncertain significance2019808381980838Human1name
597865938CV3794337single nucleotide variantNM_024411.5(PDYN):c.220C>G (p.Leu74Val)not provided [RCV005140513]uncertain significance2019808681980868Humanname
597925410CV3859448single nucleotide variantNM_024411.5(PDYN):c.209C>A (p.Thr70Asn)not provided [RCV005200104]uncertain significance2019808791980879Humanname
13479203CV442266single nucleotide variantNM_024411.5(PDYN):c.268G>A (p.Gly90Arg)Inborn genetic diseases [RCV002527505]|not provided [RCV000516917]benign|likely benign|uncertain significance2019808201980820Human1name
13485762CV442267single nucleotide variantNM_024411.5(PDYN):c.121A>G (p.Asn41Asp)PDYN-related disorder [RCV003905304]|not provided [RCV000904758]|not specified [RCV000518822]benign|likely benign2019829641982964Human1name , trait , alternate_id
13482040CV442268single nucleotide variantNM_024411.5(PDYN):c.106G>T (p.Gly36Cys)Spinocerebellar ataxia type 23 [RCV002490885]|not provided [RCV000900279]|not specified [RCV000517756]benign|likely benign2019829791982979Human1name
14693670CV620654deletionNM_024411.5(PDYN):c.496del (p.Glu166fs)Spinocerebellar ataxia type 23 [RCV000779343]uncertain significance2019805921980592Humanname
28902487CV885864single nucleotide variantNM_024411.5(PDYN):c.257C>T (p.Ser86Leu)Spinocerebellar ataxia type 23 [RCV001143592]|not provided [RCV002559386]uncertain significance2019808311980831Human1name
150432293CV1246243single nucleotide variantNM_024411.5(PDYN):c.321G>T (p.Glu107Asp)not provided [RCV001663656]uncertain significance2019807671980767Humanname
151757693CV1288085single nucleotide variantNM_024411.5(PDYN):c.635G>A (p.Arg212Gln)Spinocerebellar ataxia type 23 [RCV001849208]|not provided [RCV002261376]|not specified [RCV004998957]likely benign|uncertain significance2019804531980453Human1name
151350700CV1325752single nucleotide variantNM_024411.5(PDYN):c.394G>T (p.Gly132Cys)not specified [RCV001815097]uncertain significance2019806941980694Humanname
151353336CV1326427single nucleotide variantNM_024411.5(PDYN):c.437T>A (p.Met146Lys)not provided [RCV001816301]uncertain significance2019806511980651Humanname
151883717CV1338120single nucleotide variantNM_024411.5(PDYN):c.731C>T (p.Pro244Leu)not provided [RCV001962189]uncertain significance2019803571980357Humanname
151830802CV1343501single nucleotide variantNM_024411.5(PDYN):c.347C>G (p.Ser116Ter)not provided [RCV001920470]uncertain significance2019807411980741Humanname
151724547CV1357030single nucleotide variantNM_024411.5(PDYN):c.695G>A (p.Arg232His)not provided [RCV001966418]uncertain significance2019803931980393Humanname
151855467CV1372878single nucleotide variantNM_024411.5(PDYN):c.584G>A (p.Gly195Glu)not provided [RCV001996483]uncertain significance2019805041980504Humanname
151738328CV1379158single nucleotide variantNM_024411.5(PDYN):c.530G>A (p.Gly177Asp)not provided [RCV001911675]uncertain significance2019805581980558Humanname
151755619CV1387873single nucleotide variantNM_024411.5(PDYN):c.746G>A (p.Gly249Glu)not provided [RCV001969637]uncertain significance2019803421980342Humanname
151753680CV1471178single nucleotide variantNM_024411.5(PDYN):c.727G>A (p.Asp243Asn)not provided [RCV001948404]uncertain significance2019803611980361Humanname
151765697CV1495926single nucleotide variantNM_024411.5(PDYN):c.568G>T (p.Ala190Ser)Inborn genetic diseases [RCV004656681]|not provided [RCV001873951]uncertain significance2019805201980520Human1name
155748869CV1772480single nucleotide variantNM_024411.5(PDYN):c.623G>A (p.Gly208Glu)not provided [RCV002304004]uncertain significance2019804651980465Humanname
155707684CV1778442single nucleotide variantNM_024411.5(PDYN):c.385A>C (p.Lys129Gln)not provided [RCV002296045]uncertain significance2019807031980703Humanname
155797067CV1863162single nucleotide variantNM_024411.5(PDYN):c.630C>G (p.Phe210Leu)Spinocerebellar ataxia type 23 [RCV002470436]uncertain significance2019804581980458Human1name
156211268CV1909767single nucleotide variantNM_024411.5(PDYN):c.539G>A (p.Arg180His)not provided [RCV002596072]uncertain significance2019805491980549Humanname
155948559CV1921780single nucleotide variantNM_024411.5(PDYN):c.490G>A (p.Ala164Thr)Inborn genetic diseases [RCV002616089]|not provided [RCV002616088]likely benign|uncertain significance2019805981980598Human1name
156437645CV1947655single nucleotide variantNM_024411.5(PDYN):c.365T>C (p.Leu122Pro)not provided [RCV003107185]uncertain significance2019807231980723Humanname
156221277CV1981305single nucleotide variantNM_024411.5(PDYN):c.457G>A (p.Asp153Asn)not provided [RCV002626455]uncertain significance2019806311980631Humanname
10403742CV208643single nucleotide variantNM_024411.5(PDYN):c.583G>A (p.Gly195Arg)not specified [RCV000193293]uncertain significance2019805051980505Humanname
156107834CV2096527single nucleotide variantNM_024411.5(PDYN):c.422C>T (p.Ala141Val)not provided [RCV002913655]uncertain significance2019806661980666Humanname
156258368CV2098797single nucleotide variantNM_024411.5(PDYN):c.637C>T (p.Arg213Cys)not provided [RCV002895491]uncertain significance2019804511980451Humanname
155912992CV2148619single nucleotide variantNM_024411.5(PDYN):c.338C>G (p.Pro113Arg)not provided [RCV002991456]uncertain significance2019807501980750Humanname
156307942CV2249451single nucleotide variantNM_024411.5(PDYN):c.509A>T (p.Glu170Val)Inborn genetic diseases [RCV002808705]uncertain significance2019805791980579Human1name
156292191CV2296770single nucleotide variantNM_024411.5(PDYN):c.723G>C (p.Gln241His)Inborn genetic diseases [RCV002878965]uncertain significance2019803651980365Human1name
243059316CV2405956single nucleotide variantNM_024411.5(PDYN):c.718T>A (p.Ser240Thr)Spinocerebellar ataxia type 23 [RCV003134789]uncertain significance2019803701980370Human1name
401798891CV2742660single nucleotide variantNM_024411.5(PDYN):c.430G>C (p.Glu144Gln)not provided [RCV003325105]uncertain significance2019806581980658Humanname
401919569CV2827034single nucleotide variantNM_024411.5(PDYN):c.644G>A (p.Arg215His)not provided [RCV003431224]uncertain significance2019804441980444Humanname
401961169CV2844550single nucleotide variantNM_024411.5(PDYN):c.653T>C (p.Leu218Pro)not provided [RCV003480346]uncertain significance2019804351980435Humanname
401962703CV2845325single nucleotide variantNM_024411.5(PDYN):c.565G>A (p.Val189Met)not provided [RCV003482786]uncertain significance2019805231980523Humanname
405123595CV2885154single nucleotide variantNM_024411.5(PDYN):c.476G>A (p.Gly159Asp)not provided [RCV003559317]uncertain significance2019806121980612Humanname
405085250CV2943101single nucleotide variantNM_024411.5(PDYN):c.538C>A (p.Arg180Ser)not provided [RCV003664905]uncertain significance2019805501980550Humanname
405016436CV2991606single nucleotide variantNM_024411.5(PDYN):c.660G>A (p.Trp220Ter)not provided [RCV003694443]uncertain significance2019804281980428Humanname
405205980CV2997664single nucleotide variantNM_024411.5(PDYN):c.650A>G (p.Lys217Arg)not provided [RCV003678652]uncertain significance2019804381980438Humanname
405077681CV3136965single nucleotide variantNM_024411.5(PDYN):c.596G>C (p.Gly199Ala)Inborn genetic diseases [RCV005387274]|not provided [RCV003833863]uncertain significance2019804921980492Human1name
405061395CV3148345single nucleotide variantNM_024411.5(PDYN):c.566T>G (p.Val189Gly)not provided [RCV003850301]uncertain significance2019805221980522Humanname
405127446CV3167074single nucleotide variantNM_024411.5(PDYN):c.547C>A (p.Pro183Thr)not provided [RCV003854329]uncertain significance2019805411980541Humanname
11622262CV334873single nucleotide variantNM_024411.5(PDYN):c.436A>C (p.Met146Leu)Spinocerebellar ataxia type 23 [RCV000624990]|not provided [RCV000891825]|not specified [RCV001289117]benign|likely benign2019806521980652Human1name
8565718CV33497single nucleotide variantNM_024411.5(PDYN):c.414G>T (p.Arg138Ser)Spinocerebellar ataxia type 23 [RCV000018094]|not provided [RCV001268483]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity2019806741980674Human1name
8565719CV33498single nucleotide variantNM_024411.5(PDYN):c.643C>T (p.Arg215Cys)Spinocerebellar ataxia type 23 [RCV000018095]pathogenic2019804451980445Human1name
8565720CV33499single nucleotide variantNM_024411.5(PDYN):c.632T>C (p.Leu211Ser)Spinocerebellar ataxia type 23 [RCV000018096]|not provided [RCV000992514]pathogenic|uncertain significance2019804561980456Human1name
8565721CV33500single nucleotide variantNM_024411.5(PDYN):c.634C>T (p.Arg212Trp)Spinocerebellar ataxia type 23 [RCV000018097]pathogenic|likely pathogenic2019804541980454Human1name
405789494CV3372083single nucleotide variantNM_024411.5(PDYN):c.503C>A (p.Pro168His)Inborn genetic diseases [RCV004505502]uncertain significance2019805851980585Human1name
407528625CV3470486single nucleotide variantNM_024411.5(PDYN):c.692G>A (p.Arg231Gln)Inborn genetic diseases [RCV004655617]uncertain significance2019803961980396Human1name
407528626CV3470488single nucleotide variantNM_024411.5(PDYN):c.557G>C (p.Ser186Thr)Inborn genetic diseases [RCV004655618]uncertain significance2019805311980531Human1name
11627285CV350710single nucleotide variantNM_024411.5(PDYN):c.575A>T (p.Glu192Val)Spinocerebellar ataxia type 23 [RCV000279003]|not provided [RCV000421771]|not specified [RCV001289118]benign|likely benign2019805131980513Human1name
11630027CV350712single nucleotide variantNM_024411.5(PDYN):c.520C>T (p.Arg174Cys)Spinocerebellar ataxia type 23 [RCV000338758]|not provided [RCV001865228]|not specified [RCV000518013]likely benign|uncertain significance2019805681980568Human1name
596921207CV3534768single nucleotide variantNM_024411.5(PDYN):c.380A>G (p.Glu127Gly)not provided [RCV004784325]uncertain significance2019807081980708Humanname
597648918CV3579226single nucleotide variantNM_024411.5(PDYN):c.566T>C (p.Val189Ala)Inborn genetic diseases [RCV004959436]|not provided [RCV005000593]uncertain significance2019805221980522Human1name
597713416CV3579227single nucleotide variantNM_024411.5(PDYN):c.728A>T (p.Asp243Val)Inborn genetic diseases [RCV004959437]uncertain significance2019803601980360Human1name
597713420CV3579228single nucleotide variantNM_024411.5(PDYN):c.352A>C (p.Lys118Gln)Inborn genetic diseases [RCV004959438]uncertain significance2019807361980736Human1name
597713433CV3579231single nucleotide variantNM_024411.5(PDYN):c.529G>A (p.Gly177Ser)Inborn genetic diseases [RCV004959440]uncertain significance2019805591980559Human1name
597713439CV3579232single nucleotide variantNM_024411.5(PDYN):c.580G>T (p.Asp194Tyr)Inborn genetic diseases [RCV004959441]uncertain significance2019805081980508Human1name
597650191CV3730474single nucleotide variantNM_024411.5(PDYN):c.626G>A (p.Gly209Asp)not provided [RCV005000763]uncertain significance2019804621980462Humanname
598260690CV4002654single nucleotide variantNM_024411.5(PDYN):c.578G>C (p.Gly193Ala)Inborn genetic diseases [RCV005386743]uncertain significance2019805101980510Human1name
13211371CV426328single nucleotide variantNM_024411.5(PDYN):c.674G>A (p.Arg225His)not provided [RCV000497351]uncertain significance2019804141980414Humanname
13477121CV442263single nucleotide variantNM_024411.5(PDYN):c.716G>A (p.Arg239Gln)Spinocerebellar ataxia type 23 [RCV005398737]|not provided [RCV000905914]|not specified [RCV000516280]benign|likely benign2019803721980372Human1name
13482465CV442264single nucleotide variantNM_024411.5(PDYN):c.712A>G (p.Thr238Ala)not provided [RCV000884160]|not specified [RCV000517871]benign2019803761980376Humanname
13477376CV442265single nucleotide variantNM_024411.5(PDYN):c.527G>A (p.Gly176Glu)not provided [RCV000516350]uncertain significance2019805611980561Humanname
13810642CV577834single nucleotide variantNM_024411.5(PDYN):c.405C>A (p.Asp135Glu)not provided [RCV000712514]uncertain significance2019806831980683Humanname
28880065CV860632single nucleotide variantNM_024411.5(PDYN):c.616C>T (p.Arg206Cys)Spinocerebellar ataxia type 23 [RCV001141784]|not provided [RCV001091282]uncertain significance2019804721980472Human1name
28890829CV885859single nucleotide variantNM_024411.5(PDYN):c.724G>A (p.Glu242Lys)Inborn genetic diseases [RCV003163305]|Spinocerebellar ataxia type 23 [RCV001139164]|not provided [RCV005093619]uncertain significance2019803641980364Human2name
28897968CV885860single nucleotide variantNM_024411.5(PDYN):c.691C>T (p.Arg231Trp)Inborn genetic diseases [RCV005394762]|Spinocerebellar ataxia type 23 [RCV001141782]uncertain significance2019803971980397Human2name
28897975CV885861single nucleotide variantNM_024411.5(PDYN):c.571G>T (p.Gly191Trp)Inborn genetic diseases [RCV002557013]|Spinocerebellar ataxia type 23 [RCV001141786]|not provided [RCV002473206]uncertain significance2019805171980517Human2name
28897979CV885862single nucleotide variantNM_024411.5(PDYN):c.538C>T (p.Arg180Cys)Spinocerebellar ataxia type 23 [RCV001141787]|not provided [RCV004694877]uncertain significance2019805501980550Human1name
41406935CV983197single nucleotide variantNM_024411.5(PDYN):c.592A>T (p.Met198Leu)not provided [RCV001289120]uncertain significance2019804961980496Humanname
10406876CV208642deletionNM_024411.5(PDYN):c.658_659del (p.Trp220fs)Spinocerebellar ataxia type 23 [RCV000991062]|not provided [RCV000712515]|not specified [RCV000194525]conflicting interpretations of pathogenicity|uncertain significance2019804291980430Human1name
401930361CV2827035duplicationNM_024411.5(PDYN):c.519_527dup (p.Gly176_Gly177insArgTyrGly)not provided [RCV003440313]uncertain significance2019805601980561Humanname