CACNA1A — 4219 ClinVar variants

All ClinVar germline CACNA1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1815 flagged for review →

269 Pathogenic · 65 Pathogenic/Likely pathogenic · 197 Likely pathogenic · 349 Conflicting · 196 Benign · 87 Benign/Likely benign · 1255 Likely benign · 1801 Uncertain significance

Full CACNA1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1815

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

CACNA1A p.Ile711Val Pathogenic/Likely pathogenic Multiple submitters
episodic ataxia type 2
CACNA1A p.Ala1011Thr Likely pathogenic Single submitter
Tip-toe gait
CACNA1A p.Gly918Cys Pathogenic No assertion criteria
developmental and epileptic encephalopathy, 42

Predictors agree, ClinVar conflicts 176

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 176

CACNA1A p.Ala1076Thr Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Ala1076Val Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala1080Thr Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala1119Thr Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Ala1807Thr Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Ala183Val Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala2005Thr Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala2162Thr Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala2257Val Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala2443Thr Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala278Thr Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala443Thr Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Ala44Thr Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala628Val Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala960Val Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg1006Pro Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Arg1006Trp Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Arg1018Pro Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Arg1056His Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Arg1122His Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Arg1122Leu Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg1123Gln Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg1209His Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Arg1431Gln Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg1666Gln Conflicting Single submitter
spastic ataxia
CACNA1A p.Arg1672Cys Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Arg1672His Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg1678Cys Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Arg1739Trp Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg1750Trp Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Arg1779Gln Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Arg1879Gln Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg192Trp Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Arg1966Gln Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg1966Trp Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Arg1982Gln Conflicting Single submitter
migraine, familial hemiplegic, 1
CACNA1A p.Arg198Gln Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg2068Gln Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Arg2106Gln Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg2133Gln Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Arg2155His Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Arg2156Gly Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg2161His Conflicting Single submitter
CACNA1A-related disorder
CACNA1A p.Arg2165Cys Conflicting Single submitter
migraine, familial hemiplegic, 1
CACNA1A p.Arg2165His Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Arg2201Trp Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg2205Gly Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Arg2205Trp Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Arg2241Gly Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Arg2244His Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg381Trp Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Arg454Gln Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Arg476His Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Arg480Cys Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Arg802Ser Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Arg839Gln Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Arg922Leu Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Arg987Pro Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Asn1155Ser Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Asn1179His Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Asn1803Thr Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Asn1932Ser Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Asn2111Asp Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Asn353Lys Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Asn70Ser Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Asp1021Glu Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Asp1058Glu Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Asp1192Asn Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Asp1208Asn Conflicting Single submitter
CACNA1A-related disorder
CACNA1A p.Asp1212Tyr Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Asp123Asn Conflicting Single submitter
CACNA1A-related disorder
CACNA1A p.Asp1316Asn Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Asp1337Tyr Conflicting Single submitter
spinocerebellar ataxia type 6
CACNA1A p.Asp1719Asn Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Asp1724Asn Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Asp1914Asn Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Asp2054Asn Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Asp2054Glu Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Asp2077Glu Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Asp2157Asn Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Asp302Gly Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Asp516Asn Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Cys1174Gly Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Gln1304Pro Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Gln828Arg Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Glu1141Lys Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Glu1203Lys Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Glu2026Gly Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Glu2251Lys Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Glu2254Gln Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Glu246Lys Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Glu512Lys Conflicting Single submitter
spinocerebellar ataxia type 6
CACNA1A p.Glu907Gly Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Gly1015Arg Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Gly1036Arg Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Gly1041Val Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Gly1083Ser Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Gly1089Ser Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Gly1135Ser Conflicting Single submitter
spinocerebellar ataxia type 6
CACNA1A p.Gly1213Asp Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Gly1674Asp Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Gly2015Glu Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Gly2071Ser Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Gly2086Val Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Gly2308Ser Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Gly230Ser Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Gly230Val Conflicting Single submitter
migraine, familial hemiplegic, 1
CACNA1A p.Gly850Ser Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Gly898Ser Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Gly937Arg Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Gly938Arg Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Gly938Asp Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Gly988Asp Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Gly998Arg Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.His1826Arg Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.His865Leu Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.His903Tyr Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Ile457Val Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Ile570Val Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Leu1178Ile Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Leu1178Val Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Leu1823Pro Conflicting Single submitter
CACNA1A p.Leu227Arg Conflicting Single submitter
spinocerebellar ataxia type 6
CACNA1A p.Leu231Arg Conflicting Single submitter
migraine, familial hemiplegic, 1
CACNA1A p.Leu356Pro Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Leu709Phe Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Leu910Arg Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Lys1437Arg Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Met1217Val Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Met1572Val Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Met797Ile Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Met815Val Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Phe1554Leu Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Phe301Leu Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Phe363Ser Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Pro1059Ser Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Pro1103Leu Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Pro1116Leu Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Pro1136Thr Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Pro1137Arg Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Pro1137Leu Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Pro2001Ser Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Pro2047Leu Conflicting Single submitter
developmental and epileptic encephalopathy, 42
CACNA1A p.Pro2120Ser Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Pro2144Leu Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Pro2220His Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Pro2223Ser Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Pro2233Leu Conflicting Single submitter
Inborn genetic diseases
CACNA1A p.Pro896Arg Conflicting Single submitter
episodic ataxia type 2
CACNA1A p.Pro928Leu Conflicting Single submitter
developmental and epileptic encephalopathy, 42

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

CACNA1A c.6190-2A>C Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 1067

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1067

CACNA1A p.Ala1009Thr Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ala1088Thr Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ala10Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala1111Ser Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ala1119Pro Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala1160Gly Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ala1160Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala1160Val Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ala1173Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala1261Thr Uncertain significance Multiple submitters
Paroxysmal central nervous system disorders
CACNA1A p.Ala1262Thr Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ala1364Asp Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ala1471Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Ala1537Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala1540Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala1576Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Ala1596Thr Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ala1699Thr Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ala1885Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Ala1957Thr Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ala2019Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala2382Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Ala2436Thr Uncertain significance Multiple submitters
CACNA1A p.Ala307Val Uncertain significance Multiple submitters
CACNA1A p.Ala405Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala717Thr Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ala719Thr Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ala770Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala841Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala862Thr Uncertain significance Multiple submitters
CACNA1A p.Ala868Thr Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ala868Val Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ala925Val Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ala951Thr Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg1001Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg1024Pro Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg1027Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg1027Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg1029Gly Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg1048Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg1209Cys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg1209Ser Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg1233Cys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg132Trp Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg1433Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg1433Trp Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg1483His Uncertain significance Multiple submitters
CACNA1A p.Arg1545Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg1598Trp Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Arg1750Gln Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg1879Trp Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg1901His Uncertain significance Multiple submitters
CACNA1A p.Arg1982Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg198Gly Uncertain significance Multiple submitters
CACNA1A p.Arg201Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg201Trp Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg2106Leu Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg2108His Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg2123Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg2142Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Arg2150Gly Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg2158Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Arg2169His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg2199Trp Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg2208Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg2259Trp Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg2467Gln Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg2467Pro Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg2486His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg369Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg369Trp Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg374Trp Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg381Gln Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg3Cys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg421Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg473Lys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg476Cys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg480His Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg790Gln Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg809Gln Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg812Gln Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg812Leu Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg859Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg940Gly Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Asn1126Ser Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Asn1190Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Asn2061His Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Asn2148Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Asn333Asp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Asn390Asp Uncertain significance Multiple submitters
CACNA1A p.Asn390Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Asn715Ser Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Asp1064Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Asp123Val Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Asp124Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Asp1432Asn Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Asp1443Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Asp1627Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Asp1722Gly Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Asp1728Asn Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Asp1919Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Asp1939Glu Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Asp2073Asn Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Asp2137Asn Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Asp2172Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Asp2172Tyr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Asp2189Asn Uncertain significance Multiple submitters
migraine, familial hemiplegic, 1
CACNA1A p.Asp2204Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Asp2352Gly Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Asp262Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Asp329Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Asp329His Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Asp407Ala Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Asp675Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Asp846Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Cys1612Trp Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Gln1057Pro Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Gln1117Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Gln1686Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Gln1935Lys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Gln2153Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Gln2209His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Gln2230Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Gln633Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Gln763Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Gln784His Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Glu1014Asp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Glu1734Lys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Glu1830Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Glu188Gln Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Glu1921Lys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Glu2251Gly Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Glu406Lys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Glu437Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Glu512Gln Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Glu564Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Glu829Asp Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Glu855Ala Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Glu890Gly Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Gly1034Asp Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Gly1083Arg Uncertain significance Multiple submitters
CACNA1A p.Gly1083Asp Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Gly1151Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Gly1305Val Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Gly1674Val Uncertain significance Multiple submitters
CACNA1A p.Gly1911Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Gly1912Arg Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Gly1999Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Gly2000Ala Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Gly2002Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy

Predictors split 568

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 568

CACNA1A p.Ala1841Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala1885Thr Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ala1975Asp Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ala19Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala2091Thr Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ala2375Asp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 1
CACNA1A p.Ala2431Thr Likely benign Multiple submitters
Inborn genetic diseases
CACNA1A p.Ala453Thr Benign/Likely benign Multiple submitters
migraine, familial hemiplegic, 1
CACNA1A p.Ala753Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Ala753Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Ala951Val Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ala977Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg1018Trp Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Arg1024Gln Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg1048Gln Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg1234His Benign/Likely benign Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg1243His Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Arg1272Gln Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg1557His Uncertain significance Multiple submitters
spinocerebellar ataxia type 6
CACNA1A p.Arg1626His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg1739Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg1977His Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg2102Lys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg2108Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Arg2123His Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg2195Gln Benign/Likely benign Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg2205Gln Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg2237Gln Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg2237Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg2247Cys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg2253Leu Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg2259Gln Uncertain significance Multiple submitters
CACNA1A-related disorder
CACNA1A p.Arg2450Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg374Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Arg831Pro Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg869Gln Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg869Pro Uncertain significance Multiple submitters
hereditary cerebellar ataxia
CACNA1A p.Arg880Trp Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Arg893Gln Benign/Likely benign Multiple submitters
Inborn genetic diseases
CACNA1A p.Arg943Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg948Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg956Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg956Pro Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg962Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg975Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Arg975Leu Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg978Trp Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg980His Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Arg987Trp Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Asn1043Lys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Asn1071Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Asn1274Asp Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Asn390Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Asn830Lys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Asp1016Asn Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Asp2136His Uncertain significance Multiple submitters
CACNA1A p.Asp2414Asn Uncertain significance Multiple submitters
CACNA1A-related disorder
CACNA1A p.Asp302Asn Pathogenic/Likely pathogenic Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Asp997Asn Uncertain significance Multiple submitters
Epileptic encephalopathy
CACNA1A p.Gln54His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Glu1199Gly Uncertain significance Multiple submitters
CACNA1A p.Glu1723Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Glu1978Lys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Glu2428Lys Uncertain significance Multiple submitters
CACNA1A p.Glu436Lys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Glu671Lys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Glu731Ala Benign Multiple submitters
episodic ataxia type 2
CACNA1A p.Glu801Lys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Glu919Lys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Glu954Lys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Glu966Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Glu981Lys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Glu992Gln Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Glu992Val Benign Multiple submitters
episodic ataxia type 2
CACNA1A p.Gly1213Cys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Gly2109Glu Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Gly2176Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Gly2178Arg Uncertain significance Multiple submitters
CACNA1A-related disorder
CACNA1A p.Gly2252Cys Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Gly2252Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Gly2261Asp Likely benign Multiple submitters
episodic ataxia type 2
CACNA1A p.Gly2412Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Gly2425Asp Benign/Likely benign Multiple submitters
CACNA1A p.Gly266Ser Benign/Likely benign Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Gly411Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Gly937Trp Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Gly991Val Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.His1007Leu Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.His2211Gln Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.His2214Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.His2215Pro Uncertain significance Multiple submitters
spinocerebellar ataxia type 6
CACNA1A p.His2216Pro Uncertain significance Multiple submitters
migraine, familial hemiplegic, 1
CACNA1A p.His2216Tyr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.His2218Pro Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.His2218Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.His2219Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.His955Tyr Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ile1239Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Ile1538Val Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ile613Met Likely pathogenic Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Leu1178Phe Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Leu178Val Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Leu2006Arg Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Leu2140Arg Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Leu2181Pro Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Lys1401Arg Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Lys204Arg Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Lys611Arg Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Lys761Glu Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Lys972Asn Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Met1255Ile Uncertain significance Multiple submitters
CACNA1A-related disorder
CACNA1A p.Met1255Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Met1700Val Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Met1746Val Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Met1960Ile Uncertain significance Multiple submitters
migraine, familial hemiplegic, 1
CACNA1A p.Met2038Thr Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Met2070Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Met2121Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Met249Val Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Met52Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Met530Val Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Phe452Val Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Phe468Leu Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Pro1195Leu Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Pro2094His Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Pro9Leu Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Ser17Cys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ser2046Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Ser397Ala Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Ser465Ala Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Ser909Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Thr1229Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Thr187Met Uncertain significance Multiple submitters
CACNA1A-related disorder
CACNA1A p.Thr1943Ala Uncertain significance Multiple submitters
CACNA1A p.Thr1948Met Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Thr1983Ile Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Thr2114Ile Uncertain significance Multiple submitters
CACNA1A p.Thr542Met Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Trp2245Cys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Tyr12Cys Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Tyr12His Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Tyr1964Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Tyr62His Likely pathogenic Multiple submitters
migraine, familial hemiplegic, 1
CACNA1A p.Tyr794Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CACNA1A p.Val1286Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Val1492Ile Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 42
CACNA1A p.Val1506Leu Uncertain significance Multiple submitters
CACNA1A-related disorder
CACNA1A p.Val1808Ile Pathogenic/Likely pathogenic Multiple submitters
spinocerebellar ataxia type 6
CACNA1A p.Val197Ile Uncertain significance Multiple submitters
episodic ataxia type 2
CACNA1A p.Val215Ile Uncertain significance Multiple submitters
episodic ataxia type 2

All CACNA1A variants

Pathogenic 269

c.1082+1G>A Multiple submitters episodic ataxia type 2
c.3822+1G>A Multiple submitters CACNA1A-related disorder
c.3989+1G>A Multiple submitters episodic ataxia type 2
c.4950+1G>T Multiple submitters episodic ataxia type 2
p.Ala1507Thr Multiple submitters spinocerebellar ataxia type 6
p.Ala158fs Multiple submitters episodic ataxia type 2
p.Ala884fs Multiple submitters Paroxysmal central nervous system disorders
p.Arg1277Ter Multiple submitters CACNA1A-related complex neurodevelopmental disorder
p.Arg1345Ter Multiple submitters developmental and epileptic encephalopathy, 42
p.Arg1351Ter Multiple submitters Inborn genetic diseases
p.Arg1417Ter Multiple submitters episodic ataxia type 2
p.Arg1663Ter Multiple submitters episodic ataxia type 2
p.Arg1779Ter Multiple submitters episodic ataxia type 2
p.Arg1818Ter Multiple submitters episodic ataxia type 2
p.Arg1857Ter Multiple submitters CACNA1A-related disorder
p.Arg198Ter Multiple submitters developmental and epileptic encephalopathy, 42
p.Arg2068Ter Multiple submitters developmental and epileptic encephalopathy, 42
p.Arg454Ter Multiple submitters episodic ataxia type 2
p.Arg582Gln Multiple submitters episodic ataxia type 2
p.Arg582Ter Multiple submitters episodic ataxia type 2
p.Cys1844Ter Multiple submitters episodic ataxia type 2
p.Cys281fs Multiple submitters developmental and epileptic encephalopathy, 52
p.Gln2010Ter Multiple submitters Seizure
p.Gln662Ter Multiple submitters spinocerebellar ataxia type 6
p.Gln828Ter Multiple submitters episodic ataxia type 2
p.Gln847Ter Multiple submitters developmental and epileptic encephalopathy, 42
p.Gln912Ter Multiple submitters
p.Glu147Lys Multiple submitters episodic ataxia type 2
p.Glu276Ter Multiple submitters spinocerebellar ataxia type 6
p.Glu667Lys Multiple submitters developmental and epileptic encephalopathy, 42
p.Glu842Ter Multiple submitters developmental and epileptic encephalopathy, 42
p.His1826fs Multiple submitters episodic ataxia type 2
p.Ile1809Leu Multiple submitters episodic ataxia type 2
p.Leu1178fs Multiple submitters Inborn genetic diseases
p.Leu1232fs Multiple submitters episodic ataxia type 2
p.Leu1863fs Multiple submitters developmental and epileptic encephalopathy, 42
p.Lys1138fs Multiple submitters CACNA1A-related disorder
p.Lys1197fs Multiple submitters episodic ataxia type 2
p.Lys771Ter Multiple submitters spinocerebellar ataxia type 6
p.Phe146fs Multiple submitters episodic ataxia type 2
p.Phe1501del Multiple submitters episodic ataxia type 2
p.Phe1703del Multiple submitters episodic ataxia type 2
p.Pro1352Leu Multiple submitters migraine, familial hemiplegic, 1
p.Pro969fs Multiple submitters developmental and epileptic encephalopathy, 42
p.Ser1035fs Multiple submitters Inborn genetic diseases
p.Ser1468Leu Multiple submitters episodic ataxia type 2
p.Thr2053fs Multiple submitters episodic ataxia type 2
p.Thr310fs Multiple submitters episodic ataxia type 2
p.Thr500Met Multiple submitters hereditary episodic ataxia
p.Thr665Met Multiple submitters CACNA1A-related disorder
p.Trp169Ter Multiple submitters episodic ataxia type 2
p.Tyr545Ter Multiple submitters Inborn genetic diseases
p.Val176fs Multiple submitters episodic ataxia type 2
p.Val713Met Multiple submitters spinocerebellar ataxia type 6
c.1083-2A>G Single submitter
c.1668+1G>A Single submitter
c.1668+519_1842del Single submitter developmental and epileptic encephalopathy, 42
c.1669-2A>G Single submitter
c.1914-10_2172+10del Single submitter episodic ataxia type 2
c.1914-2A>C Single submitter alternating hemiplegia of childhood 1
c.1986+1G>A Single submitter
c.1986+1G>T Single submitter
c.2164_2172+6del Single submitter
c.3089+1G>A Single submitter episodic ataxia type 2
c.3091_3094del Single submitter Inborn genetic diseases
c.3692+1G>T Single submitter episodic ataxia type 2
c.3693-5_3703del Single submitter
c.3989+1G>T Single submitter episodic ataxia type 2
c.3990-2A>C Single submitter migraine, familial hemiplegic, 1
c.3990-9_3991dup Single submitter episodic ataxia type 2
c.400-1G>A Single submitter
c.4389-1G>C Single submitter episodic ataxia type 2
c.4389-2A>C Single submitter episodic ataxia type 2
c.4755+1G>T Single submitter
c.6050+4_6050+7del Single submitter episodic ataxia type 2
c.6340-1G>C Single submitter
p.Ala1391Val Single submitter episodic ataxia type 2
p.Ala1589fs Single submitter
p.Ala1841fs Single submitter
p.Ala1913fs Single submitter Inborn genetic diseases
p.Ala19fs Single submitter episodic ataxia type 2
p.Ala2162_Ser2163insTer Single submitter episodic ataxia type 2
p.Ala278fs Single submitter episodic ataxia type 2
p.Ala905fs Single submitter episodic ataxia type 2
p.Ala951fs Single submitter intellectual disability
p.Ala978fs Single submitter
p.Arg1002_Arg1003delinsSerTer Single submitter developmental and epileptic encephalopathy, 42
p.Arg1025fs Single submitter episodic ataxia type 2
p.Arg1309fs Single submitter
p.Arg1739Pro Single submitter episodic ataxia type 2
p.Arg1750fs Single submitter
p.Arg195Lys Single submitter episodic ataxia type 2
p.Arg2123fs Single submitter Inborn genetic diseases
p.Arg2133fs Single submitter developmental and epileptic encephalopathy, 42
p.Arg31Ter Single submitter episodic ataxia type 2
p.Arg55fs Single submitter developmental and epileptic encephalopathy, 42
p.Arg68Ter Single submitter
p.Arg782Ter Single submitter
p.Arg790_Glu791insTer Single submitter episodic ataxia type 2
p.Arg802fs Single submitter episodic ataxia type 2
p.Arg853fs Single submitter
p.Arg922Ter Single submitter
p.Arg987fs Single submitter
p.Asn1179fs Single submitter episodic ataxia type 2
p.Asn1188fs Single submitter developmental and epileptic encephalopathy, 42
p.Asn1595fs Single submitter
p.Asn1783fs Single submitter
p.Asn1803fs Single submitter developmental and epileptic encephalopathy, 42
p.Asn718_Ala719delinsAspSerHisLeuGlnTrpHisAspPheSerTyrGlyArgValHisPheTer Single submitter Inborn genetic diseases
p.Asp1016fs Single submitter episodic ataxia type 2
p.Asp1280fs Single submitter episodic ataxia type 2
p.Asp1367fs Single submitter developmental and epileptic encephalopathy, 42
p.Asp2137fs Single submitter
p.Asp2189fs Single submitter episodic ataxia type 2
p.Asp927fs Single submitter episodic ataxia type 2
p.Cys1533Ter Single submitter episodic ataxia type 2
p.Cys1770fs Single submitter
p.Cys1781fs Single submitter
p.Gln1052Ter Single submitter
p.Gln1057fs Single submitter
p.Gln1153Ter Single submitter
p.Gln1304fs Single submitter Inborn genetic diseases
p.Gln1476Ter Single submitter episodic ataxia type 2
p.Gln1555Ter Single submitter
p.Gln1673fs Single submitter spinocerebellar ataxia type 6
p.Gln1917Ter Single submitter episodic ataxia type 2
p.Gln2033Ter Single submitter
p.Gln2049fs Single submitter
p.Gln228Ter Single submitter episodic ataxia type 2
p.Gln2325_Ala2326insGlnGlnGlnGlnGlnGlnGlnGln Single submitter Inborn genetic diseases
p.Gln313Ter Single submitter episodic ataxia type 2
p.Gln413Ter Single submitter episodic ataxia type 2
p.Gln727Ter Single submitter Inborn genetic diseases
p.Gln764Ter Single submitter episodic ataxia type 2
p.Gln784Ter Single submitter episodic ataxia type 2
p.Gln936Ter Single submitter Inborn genetic diseases
p.Glu1000fs Single submitter
p.Glu1198fs Single submitter developmental and epileptic encephalopathy, 42
p.Glu1246Ter Single submitter
p.Glu2146fs Single submitter episodic ataxia type 2
p.Glu2146Ter Single submitter developmental and epileptic encephalopathy, 42
p.Glu2164Ter Single submitter
p.Glu276fs Single submitter
p.Glu472fs Single submitter episodic ataxia type 2
p.Glu731Ter Single submitter developmental and epileptic encephalopathy, 42
p.Glu780delinsGlnValArgValGlyAlaAlaAspGlnTer Single submitter
p.Glu801Ter Single submitter developmental and epileptic encephalopathy, 42
p.Glu919Ter Single submitter developmental and epileptic encephalopathy, 42
p.Glu967Ter Single submitter
p.Glu96Ter Single submitter episodic ataxia type 2
p.Glu992Ter Single submitter
p.Gly1036fs Single submitter developmental and epileptic encephalopathy, 42
p.Gly1041fs Single submitter episodic ataxia type 2
p.Gly1305fs Single submitter
p.Gly1322Arg Single submitter episodic ataxia type 2
p.Gly1322Glu Single submitter
p.Gly1477Asp Single submitter
p.Gly14fs Single submitter
p.Gly156Val Single submitter developmental and epileptic encephalopathy, 42
p.Gly1674fs Single submitter developmental and epileptic encephalopathy, 42
p.Gly2000fs Single submitter developmental and epileptic encephalopathy, 42
p.Gly2071fs Single submitter episodic ataxia type 2
p.Gly293fs Single submitter episodic ataxia type 2
p.Gly43fs Single submitter episodic ataxia type 2
p.Gly908fs Single submitter
p.Gly938fs Single submitter episodic ataxia type 2
p.Gly968fs Single submitter
p.Gly999fs Single submitter developmental and epileptic encephalopathy, 42
p.His2151fs Single submitter developmental and epileptic encephalopathy, 42
p.His929fs Single submitter Inborn genetic diseases
p.Ile1109fs Single submitter
p.Ile1356fs Single submitter Inborn genetic diseases
p.Ile1356Ser Single submitter
p.Ile346del Single submitter
p.Ile613fs Single submitter episodic ataxia type 2
p.Ile614Asn Single submitter episodic ataxia type 2
p.Ile65fs Single submitter episodic ataxia type 2
p.Ile691fs Single submitter developmental and epileptic encephalopathy, 42
p.Leu1362fs Single submitter developmental and epileptic encephalopathy, 42
p.Leu1610fs Single submitter
p.Leu1667fs Single submitter episodic ataxia type 2
p.Leu1747fs Single submitter developmental and epileptic encephalopathy, 42
p.Leu324fs Single submitter episodic ataxia type 2
p.Leu526Ter Single submitter episodic ataxia type 2
p.Leu617Phe Single submitter developmental and epileptic encephalopathy, 42
p.Leu786fs Single submitter episodic ataxia type 2
p.Lys1072fs Single submitter
p.Lys1401fs Single submitter episodic ataxia type 2
p.Lys1954fs Single submitter
p.Lys594fs Single submitter
p.Lys771fs Single submitter
p.Met1_Phe4del Single submitter auditory neuropathy
p.Met1880fs Single submitter developmental and epileptic encephalopathy, 42
p.Met1962fs Single submitter Inborn genetic diseases
p.Met2038fs Single submitter
p.Met658fs Single submitter spinocerebellar ataxia type 6
p.Phe1327fs Single submitter Inborn genetic diseases
p.Phe1366Ile Single submitter
p.Phe1505Ser Single submitter developmental and epileptic encephalopathy, 42
p.Phe1513fs Single submitter episodic ataxia type 2
p.Phe1790fs Single submitter developmental and epileptic encephalopathy, 42
p.Phe417fs Single submitter episodic ataxia type 2
p.Phe452fs Single submitter episodic ataxia type 2
p.Phe641fs Single submitter Inborn genetic diseases
p.Phe915fs Single submitter developmental and epileptic encephalopathy, 42
p.Pro1193fs Single submitter episodic ataxia type 2
p.Pro1218fs Single submitter episodic ataxia type 2
p.Pro1360fs Single submitter developmental and epileptic encephalopathy, 42
p.Pro1566fs Single submitter
p.Pro2001fs Single submitter
p.Pro2007_Ser2008insTer Single submitter Inborn genetic diseases
p.Pro2028fs Single submitter episodic ataxia type 2
p.Pro2051fs Single submitter
p.Pro2052fs Single submitter
p.Pro2222fs Single submitter developmental and epileptic encephalopathy, 42
p.Pro947fs Single submitter episodic ataxia type 2
p.Ser1093fs Single submitter developmental and epileptic encephalopathy, 42
p.Ser1456fs Single submitter episodic ataxia type 2
p.Ser1479fs Single submitter
p.Ser2124Ter Single submitter developmental and epileptic encephalopathy, 42
p.Ser494fs Single submitter episodic ataxia type 2
p.Ser549fs Single submitter
p.Ser946fs Single submitter developmental and epileptic encephalopathy, 42
p.Thr542fs Single submitter episodic ataxia type 2
p.Thr844fs Single submitter episodic ataxia type 2
p.Trp1629Ter Single submitter episodic ataxia type 2
p.Trp335Ter Single submitter
p.Trp490Ter Single submitter episodic ataxia type 2
p.Trp513Ter Single submitter developmental and epileptic encephalopathy
p.Trp567Ter Single submitter episodic ataxia type 2
p.Trp774Ter Single submitter
p.Trp803Ter Single submitter developmental and epileptic encephalopathy, 42
p.Trp97Ter Single submitter episodic ataxia type 2
p.Tyr1013Ter Single submitter episodic ataxia type 2
p.Tyr1220Ter Single submitter episodic ataxia type 2
p.Tyr1442Asp Single submitter developmental and epileptic encephalopathy, 42
p.Tyr164_Leu165insTer Single submitter episodic ataxia type 2
p.Tyr164Ter Single submitter CACNA1A-related complex neurodevelopmental disorder
p.Tyr1705Ter Single submitter developmental and epileptic encephalopathy, 42
p.Tyr2228Ter Single submitter
p.Tyr478Ter Single submitter developmental and epileptic encephalopathy, 42
p.Tyr520Ter Single submitter
p.Tyr674Ter Single submitter developmental and epileptic encephalopathy, 42
p.Tyr897Ter Single submitter
p.Val1146fs Single submitter developmental and epileptic encephalopathy, 42
p.Val1168fs Single submitter
p.Val1349fs Single submitter developmental and epileptic encephalopathy, 42
p.Val1349Leu Single submitter episodic ataxia type 2
p.Val1365_Phe1366insTer Single submitter episodic ataxia type 2
p.Val1599fs Single submitter developmental and epileptic encephalopathy, 42
p.Val1694Phe Single submitter episodic ataxia type 2
p.Val683fs Single submitter episodic ataxia type 2
p.Val773fs Single submitter episodic ataxia type 2
c.6937CAG[(21_30 No assertion criteria episodic ataxia type 2
p.Ala1507Ser No assertion criteria developmental and epileptic encephalopathy, 42
p.Ala712Ser No assertion criteria developmental and epileptic encephalopathy, 42
p.Arg956fs No assertion criteria episodic ataxia type 2
p.Asp714Glu No assertion criteria migraine, familial hemiplegic, 1
p.Cys287Tyr No assertion criteria episodic ataxia type 2
p.Glu101Gln No assertion criteria developmental and epileptic encephalopathy, 42
p.Glu1755Lys No assertion criteria episodic ataxia type 2
p.Gly918Cys No assertion criteria developmental and epileptic encephalopathy, 42 ⚠
p.Ile219Val No assertion criteria disorder of sexual differentiation ⚠
p.Leu602Arg No assertion criteria spinocerebellar ataxia type 6
p.Pro1265fs No assertion criteria episodic ataxia type 2
p.Thr1139fs No assertion criteria spinocerebellar ataxia type 6
p.Tyr1281Ter No assertion criteria episodic ataxia type 2
p.Val1616fs No assertion criteria episodic ataxia type 2
p.Val713Ala No assertion criteria migraine, familial hemiplegic, 1

Pathogenic/Likely pathogenic 65

c.1198+1G>A Multiple submitters episodic ataxia type 2
c.3692+1G>A Multiple submitters episodic ataxia type 2
c.3990-2A>G Multiple submitters developmental and epileptic encephalopathy, 42
c.4089+1G>A Multiple submitters developmental and epileptic encephalopathy, 42
c.4089+2T>G Multiple submitters episodic ataxia type 2
c.631+2T>C Multiple submitters episodic ataxia type 2
c.978+1G>A Multiple submitters CACNA1A-related disorder
p.Ala1507Asp Multiple submitters developmental and epileptic encephalopathy, 42
p.Ala446Ter Multiple submitters episodic ataxia type 2
p.Ala628Thr Multiple submitters episodic ataxia type 2
p.Ala712Thr Multiple submitters migraine, familial hemiplegic, 1
p.Arg1345Gln Multiple submitters developmental and epileptic encephalopathy, 42
p.Arg1348Gln Multiple submitters migraine, familial hemiplegic, 1
p.Arg1348Trp Multiple submitters developmental and epileptic encephalopathy, 42
p.Arg1351Gln Multiple submitters episodic ataxia type 2
p.Arg1358Trp Multiple submitters episodic ataxia type 2
p.Arg1431Ter Multiple submitters Neurodevelopmental delay
p.Arg1545Ter Multiple submitters episodic ataxia type 2
p.Arg1660His Multiple submitters Autosomal dominant CACNA1A-related disorders
p.Arg1663Gln Multiple submitters developmental and epileptic encephalopathy, 42
p.Arg1666Pro Multiple submitters episodic ataxia type 2
p.Arg1666Trp Multiple submitters episodic ataxia type 2
p.Arg192Gln Multiple submitters episodic ataxia type 2
p.Arg2133Ter Multiple submitters developmental and epileptic encephalopathy, 42
p.Arg279Cys Multiple submitters CACNA1A-related complex neurodevelopmental disorder
p.Arg480fs Multiple submitters CACNA1A-related disorder
p.Asn2061fs Multiple submitters developmental and epileptic encephalopathy, 42
p.Asp1633Asn Multiple submitters episodic ataxia type 2
p.Asp1643Asn Multiple submitters migraine, familial hemiplegic, 1
p.Asp302Asn Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Cys272Tyr Multiple submitters CACNA1A-related disorder
p.Gln1686Ter Multiple submitters episodic ataxia type 2
p.Gln1988Ter Multiple submitters developmental and epileptic encephalopathy, 42
p.Gln638Ter Multiple submitters Inborn genetic diseases
p.Gln680fs Multiple submitters episodic ataxia type 2
p.Gln851Ter Multiple submitters developmental and epileptic encephalopathy, 42
p.Glu1263Lys Multiple submitters developmental and epileptic encephalopathy, 42
p.Glu1424Ter Multiple submitters episodic ataxia type 2
p.Glu532Lys Multiple submitters episodic ataxia type 2
p.Glu994Ter Multiple submitters CACNA1A-related disorder
p.Gly1754Arg Multiple submitters Inborn genetic diseases
p.Gly293Arg Multiple submitters episodic ataxia type 2
p.Gly297Arg Multiple submitters Autosomal dominant CACNA1A-related disorders
p.Gly539Arg Multiple submitters CACNA1A-related complex neurodevelopmental disorder
p.Gly676Arg Multiple submitters developmental and epileptic encephalopathy, 42
p.Ile1708Thr Multiple submitters CACNA1A-related disorder
p.Ile711Met Multiple submitters episodic ataxia type 2
p.Ile711Val Multiple submitters episodic ataxia type 2 ⚠
p.Leu1344Pro Multiple submitters CACNA1A-associated disorder
p.Leu501fs Multiple submitters episodic ataxia type 2
p.Phe550fs Multiple submitters episodic ataxia type 2
p.Pro202Leu Multiple submitters episodic ataxia type 2
p.Ser1798Leu Multiple submitters migraine, familial hemiplegic, 1
p.Ser218Leu Multiple submitters episodic ataxia type 2
p.Ser939fs Multiple submitters developmental and epileptic encephalopathy, 42
p.Thr1355Asn Multiple submitters episodic ataxia type 2
p.Trp669Ter Multiple submitters developmental and epileptic encephalopathy, 42
p.Tyr1383Cys Multiple submitters developmental and epileptic encephalopathy, 42
p.Tyr1853_Ser1854delinsTer Multiple submitters episodic ataxia type 2
p.Tyr595Ter Multiple submitters developmental and epileptic encephalopathy, 42
p.Tyr62Cys Multiple submitters developmental and epileptic encephalopathy, 42
p.Val1392Ala Multiple submitters developmental and epileptic encephalopathy, 42
p.Val1392Met Multiple submitters CACNA1A-related disorder
p.Val1808Ile Multiple submitters spinocerebellar ataxia type 6 ⚠
p.Val215Ala Multiple submitters episodic ataxia type 2

Likely pathogenic 197

c.2105-2A>G Multiple submitters episodic ataxia type 2
c.4866+1G>T Multiple submitters developmental and epileptic encephalopathy, 42
c.6189+1G>A Multiple submitters developmental and epileptic encephalopathy, 42
p.Ala1807Ser Multiple submitters episodic ataxia type 2
p.Arg1351Leu Multiple submitters CACNA1A-related disorder
p.Arg1660Cys Multiple submitters episodic ataxia type 2
p.Asp302His Multiple submitters developmental and epileptic encephalopathy, 42
p.Cys272Arg Multiple submitters developmental and epileptic encephalopathy, 42
p.Glu101Lys Multiple submitters developmental and epileptic encephalopathy, 42
p.His253Tyr Multiple submitters episodic ataxia type 2
p.Ile613Met Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Phe529fs Multiple submitters episodic ataxia type 2
p.Pro1360Gln Multiple submitters spinocerebellar ataxia type 6
p.Ser1798Pro Multiple submitters developmental and epileptic encephalopathy, 42
p.Ser615Asn Multiple submitters Febrile seizure (within the age range of 3 months to 6 years)
p.Tyr62His Multiple submitters migraine, familial hemiplegic, 1 ⚠
p.Val1455Met Multiple submitters episodic ataxia type 2
c.1037_1082+113del Single submitter episodic ataxia type 2
c.1345+1G>A Single submitter episodic ataxia type 2
c.1555+2del Single submitter developmental and epileptic encephalopathy, 42
c.1782-1G>A Single submitter episodic ataxia type 2
c.1782-2A>C Single submitter episodic ataxia type 2
c.1913+1G>A Single submitter developmental and epileptic encephalopathy, 42
c.1913+1G>T Single submitter
c.294-1C>A Single submitter episodic ataxia type 2
c.294-1C>G Single submitter developmental and epileptic encephalopathy, 42
c.3553+1G>A Single submitter episodic ataxia type 2
c.3823-1G>C Single submitter episodic ataxia type 2
c.3882+2T>C Single submitter developmental and epileptic encephalopathy, 42
c.3933_3990-3287del Single submitter
c.3989+1G>C Single submitter episodic ataxia type 2
c.399+1G>A Single submitter developmental and epileptic encephalopathy, 42
c.399+1G>C Single submitter
c.3990-19C>G Single submitter episodic ataxia type 2
c.3990-1G>T Single submitter episodic ataxia type 2
c.4090-3C>G Single submitter
c.4250+5G>C Single submitter migraine, familial hemiplegic, 1
c.4591-2A>G Single submitter episodic ataxia type 2
c.5068-1G>A Single submitter episodic ataxia type 2
c.5068-2_5071del Single submitter developmental and epileptic encephalopathy, 42
c.5133+2T>A Single submitter episodic ataxia type 2
c.5134-2A>C Single submitter Inborn genetic diseases
c.5134-2del Single submitter episodic ataxia type 2
c.540-1G>C Single submitter developmental and epileptic encephalopathy, 42
c.5400+1G>T Single submitter episodic ataxia type 2
c.5400+2T>C Single submitter
c.5401-1G>C Single submitter
c.5532-2A>G Single submitter episodic ataxia type 2
c.5628+1G>A Single submitter
c.5731+1G>C Single submitter episodic ataxia type 2
c.5839+1G>C Single submitter developmental and epileptic encephalopathy, 42
c.5839+1G>T Single submitter
c.5840-2A>G Single submitter episodic ataxia type 2
c.5840-2A>T Single submitter developmental and epileptic encephalopathy, 42
c.5940+1G>A Single submitter episodic ataxia type 2
c.5941-2A>G Single submitter Inborn genetic diseases
c.6051-1G>A Single submitter
c.6303+1G>A Single submitter episodic ataxia type 2
c.6304-1G>A Single submitter developmental and epileptic encephalopathy, 42
c.676_784+1178del Single submitter episodic ataxia type 2
c.978+1G>C Single submitter migraine, familial hemiplegic, 1
p.Ala1011Thr Single submitter Tip-toe gait ⚠
p.Ala1160fs Single submitter developmental and epileptic encephalopathy, 42
p.Ala1173fs Single submitter episodic ataxia type 2
p.Ala759fs Single submitter CACNA1A-related disorder
p.Ala868fs Single submitter developmental and epileptic encephalopathy, 42
p.Arg1345Leu Single submitter
p.Arg1348Pro Single submitter
p.Arg1351Pro Single submitter
p.Arg1358Gln Single submitter episodic ataxia type 2
p.Arg1660Leu Single submitter episodic ataxia type 2
p.Arg1672Pro Single submitter migraine, familial hemiplegic, 1
p.Arg1678His Single submitter episodic ataxia type 2
p.Arg1678Ser Single submitter episodic ataxia type 2
p.Arg588Cys Single submitter
p.Arg68Leu Single submitter episodic ataxia type 2 ⚠
p.Arg782fs Single submitter developmental and epileptic encephalopathy, 42
p.Arg867fs Single submitter developmental and epileptic encephalopathy, 42
p.Arg956Ter Single submitter
p.Asn1759del Single submitter episodic ataxia type 2
p.Asn649fs Single submitter
p.Asn715Thr Single submitter developmental and epileptic encephalopathy, 42
p.Asp1316Glu Single submitter spinocerebellar ataxia type 6
p.Asp1415fs Single submitter episodic ataxia type 2
p.Asp1643Tyr Single submitter developmental and epileptic encephalopathy, 42
p.Asp2137Ter Single submitter
p.Asp714His Single submitter episodic ataxia type 2
p.Cys1405Ter Single submitter developmental and epileptic encephalopathy, 42
p.Cys1416Tyr Single submitter developmental and epileptic encephalopathy, 42
p.Cys272Gly Single submitter
p.Cys272Ter Single submitter migraine, familial hemiplegic, 1
p.Cys287Arg Single submitter episodic ataxia type 2
p.Gln1153fs Single submitter episodic ataxia type 2
p.Gln1396His Single submitter
p.Gln1711Lys Single submitter
p.Gln382Ter Single submitter
p.Gln441Ter Single submitter developmental and epileptic encephalopathy, 42
p.Glu1211Ter Single submitter migraine, familial hemiplegic, 1
p.Glu137Lys Single submitter
p.Glu1485Ter Single submitter developmental and epileptic encephalopathy, 42
p.Glu1648Ter Single submitter
p.Glu1721Ter Single submitter Autosomal dominant CACNA1A-related disorders
p.Glu1755Gly Single submitter spinocerebellar ataxia type 6
p.Glu1814Ter Single submitter spinocerebellar ataxia type 6
p.Glu2417Ter Single submitter cerebral palsy
p.Glu362Ter Single submitter
p.Glu667Ala Single submitter episodic ataxia type 2
p.Glu966fs Single submitter
p.Gly1517Arg Single submitter developmental and epileptic encephalopathy, 42
p.Gly162Val Single submitter Inborn genetic diseases
p.Gly1709Arg Single submitter
p.Gly180Cys Single submitter Neurodevelopmental delay
p.Gly1844Asp Single submitter developmental and epileptic encephalopathy, 42
p.Gly2015Ter Single submitter
p.Gly230Arg Single submitter developmental and epileptic encephalopathy, 42
p.Gly34fs Single submitter
p.Gly35fs Single submitter
p.Gly700Arg Single submitter episodic ataxia type 2
p.Gly700Glu Single submitter spinocerebellar ataxia type 6
p.Ile108Thr Single submitter episodic ataxia type 2
p.Ile1356del Single submitter developmental and epileptic encephalopathy, 42
p.Ile1356Thr Single submitter
p.Ile1389Val Single submitter
p.Ile1679fs Single submitter developmental and epileptic encephalopathy, 42
p.Ile1707Thr Single submitter spinocerebellar ataxia type 6
p.Ile1708Leu Single submitter episodic ataxia type 2
p.Ile1809Thr Single submitter developmental and epileptic encephalopathy, 42
p.Ile1809Val Single submitter episodic ataxia type 2
p.Ile1929fs Single submitter CACNA1A-related disorder
p.Ile396Asn Single submitter
p.Ile396Val Single submitter episodic ataxia type 2
p.Ile479fs Single submitter Global developmental delay
p.Ile624Phe Single submitter developmental and epileptic encephalopathy, 42
p.Leu1090fs Single submitter
p.Leu1380Ile Single submitter
p.Leu1421fs Single submitter developmental and epileptic encephalopathy, 42
p.Leu1691Gln Single submitter developmental and epileptic encephalopathy, 42
p.Leu1697fs Single submitter episodic ataxia type 2
p.Leu1856Ter Single submitter developmental and epileptic encephalopathy, 42
p.Leu599_Arg600insGlu Single submitter
p.Leu617Ser Single submitter spinocerebellar ataxia type 6
p.Leu705Gln Single submitter
p.Met1960del Single submitter Autosomal dominant CACNA1A-related disorders
p.Met317Leu Single submitter episodic ataxia type 2
p.Met673_Lys678del Single submitter spinocerebellar ataxia type 6
p.Phe1403Ser Single submitter Neurodevelopmental delay
p.Phe1489Ser Single submitter episodic ataxia type 2
p.Phe157Ser Single submitter episodic ataxia type 2
p.Phe1619fs Single submitter developmental and epileptic encephalopathy, 42
p.Phe1805fs Single submitter spinocerebellar ataxia type 6
p.Phe689fs Single submitter episodic ataxia type 2
p.Pro122fs Single submitter CACNA1A-related disorder
p.Pro1498Arg Single submitter Neurodevelopmental delay
p.Pro1862Arg Single submitter
p.Pro1862Leu Single submitter developmental and epileptic encephalopathy, 42
p.Pro225Arg Single submitter developmental and epileptic encephalopathy, 42
p.Ser1045Ter Single submitter developmental and epileptic encephalopathy, 42
p.Ser1257Ile Single submitter developmental and epileptic encephalopathy, 42
p.Ser1372Leu Single submitter neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
p.Ser1687Phe Single submitter episodic ataxia type 2
p.Ser1798Trp Single submitter episodic ataxia type 2
p.Ser218Pro Single submitter spinocerebellar ataxia type 6
p.Ser218Trp Single submitter episodic ataxia type 2
p.Ser331Ter Single submitter
p.Ser428fs Single submitter developmental and epileptic encephalopathy, 42
p.Thr1047fs Single submitter Seizure
p.Thr136Ala Single submitter migraine, familial hemiplegic, 1 ⚠
p.Thr1512Ala Single submitter migraine, familial hemiplegic, 1
p.Thr285fs Single submitter developmental and epileptic encephalopathy, 42
p.Thr491fs Single submitter
p.Thr500Ala Single submitter episodic ataxia type 2
p.Trp1461Ter Single submitter
p.Trp916Ter Single submitter developmental and epileptic encephalopathy, 42
p.Tyr1438Ter Single submitter episodic ataxia type 2
p.Tyr1442Ter Single submitter
p.Tyr62Asn Single submitter episodic ataxia type 2 ⚠
p.Tyr62Phe Single submitter episodic ataxia type 2
p.Val1349Met Single submitter episodic ataxia type 2
p.Val1455Leu Single submitter Inborn genetic diseases
p.Val1694Asp Single submitter episodic ataxia type 2
p.Val1806Ala Single submitter spinocerebellar ataxia type 6
p.Val358Met Single submitter
p.Val496Ile Single submitter episodic ataxia type 2
p.Val707Met Single submitter Seizure
c.1914-1G>A No assertion criteria Neurodevelopmental abnormality
c.5250-2A>G No assertion criteria developmental and epileptic encephalopathy, 42
p.Arg782Pro No assertion criteria spinocerebellar ataxia type 6 ⚠
p.Asn1893fs No assertion criteria CACNA1A-related disorder
p.Asp173Glu No assertion criteria spinocerebellar ataxia type 6
p.Glu730Ter No assertion criteria CACNA1A-related disorder
p.Glu842fs No assertion criteria spinocerebellar ataxia type 6
p.Glu974fs No assertion criteria CACNA1A-related disorder
p.Ile108fs No assertion criteria CACNA1A-related disorder
p.Phe621fs No assertion criteria developmental and epileptic encephalopathy, 42
p.Ser615Arg No assertion criteria CACNA1A-related disorder
p.Thr334_Trp335insTer No assertion criteria CACNA1A-related disorder
p.Tyr1490Ter No assertion criteria CACNA1A-related disorder

Conflicting classifications of pathogenicity 349

Showing the top 300 by review status; the full set is in the sitemap.

c.1083-11T>C Single submitter developmental and epileptic encephalopathy, 42
c.1199-9C>T Single submitter developmental and epileptic encephalopathy, 42
c.1256-9T>C Single submitter episodic ataxia type 2
c.1782-6C>T Single submitter episodic ataxia type 2
c.1914-5T>C Single submitter developmental and epileptic encephalopathy, 42
c.2105-15C>T Single submitter episodic ataxia type 2
c.2172+14G>A Single submitter episodic ataxia type 2
c.2172+8C>T Single submitter episodic ataxia type 2
c.3090-5C>T Single submitter Inborn genetic diseases
c.3823-3C>T Single submitter Inborn genetic diseases
c.399+3G>A Single submitter episodic ataxia type 2
c.4251-7G>A Single submitter episodic ataxia type 2
c.4389-5T>C Single submitter Inborn genetic diseases
c.4756-4C>T Single submitter developmental and epileptic encephalopathy, 42
c.5133+10G>A Single submitter episodic ataxia type 2
c.5134-3C>T Single submitter episodic ataxia type 2
c.539+9C>T Single submitter episodic ataxia type 2
c.5401-13G>A Single submitter episodic ataxia type 2
c.5401-3C>T Single submitter episodic ataxia type 2
c.5839+10G>A Single submitter developmental and epileptic encephalopathy, 42
c.5940+18C>G Single submitter episodic ataxia type 2
c.5940+5G>A Single submitter episodic ataxia type 2
c.6051-7C>G Single submitter episodic ataxia type 2
c.6051-9C>G Single submitter episodic ataxia type 2
c.6190-2A>C Single submitter Inborn genetic diseases ⚠
c.6190-3C>A Single submitter developmental and epileptic encephalopathy, 42
c.631+5G>A Single submitter CACNA1A-related disorder
c.632-5C>T Single submitter episodic ataxia type 2
c.6340-7C>A Single submitter episodic ataxia type 2
c.978+9T>C Single submitter developmental and epileptic encephalopathy, 42
p.1346VLR[1] Single submitter episodic ataxia type 2
p.990EG[4] Single submitter episodic ataxia type 2
p.Ala1076= Single submitter Inborn genetic diseases
p.Ala1076Thr Single submitter episodic ataxia type 2 ⚠
p.Ala1076Val Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Ala1080Thr Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Ala1119Thr Single submitter Inborn genetic diseases ⚠
p.Ala1270Thr Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Ala1430= Single submitter developmental and epileptic encephalopathy, 42
p.Ala1807Thr Single submitter episodic ataxia type 2 ⚠
p.Ala183Val Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Ala2005Thr Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Ala2162Thr Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Ala2257= Single submitter developmental and epileptic encephalopathy, 42
p.Ala2257Val Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Ala2350= Single submitter
p.Ala2443Thr Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Ala278Thr Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Ala2Val Single submitter episodic ataxia type 2 ⚠
p.Ala443Thr Single submitter episodic ataxia type 2 ⚠
p.Ala44Thr Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Ala53= Single submitter developmental and epileptic encephalopathy, 42
p.Ala628Val Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Ala733Val Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Ala960Val Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg1006Gln Single submitter episodic ataxia type 2 ⚠
p.Arg1006Pro Single submitter episodic ataxia type 2 ⚠
p.Arg1006Trp Single submitter episodic ataxia type 2 ⚠
p.Arg1018Pro Single submitter episodic ataxia type 2 ⚠
p.Arg1056Cys Single submitter episodic ataxia type 2 ⚠
p.Arg1056His Single submitter Inborn genetic diseases ⚠
p.Arg1122Cys Single submitter Inborn genetic diseases ⚠
p.Arg1122His Single submitter episodic ataxia type 2 ⚠
p.Arg1122Leu Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg1123Gln Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg1123Trp Single submitter Inborn genetic diseases ⚠
p.Arg1209His Single submitter Inborn genetic diseases ⚠
p.Arg1234Cys Single submitter episodic ataxia type 2 ⚠
p.Arg1417Gln Single submitter Seizure ⚠
p.Arg1431Gln Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg1666Gln Single submitter spastic ataxia ⚠
p.Arg1672Cys Single submitter episodic ataxia type 2 ⚠
p.Arg1672His Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg1678Cys Single submitter episodic ataxia type 2 ⚠
p.Arg1739Trp Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg1750Trp Single submitter episodic ataxia type 2 ⚠
p.Arg1779Gln Single submitter episodic ataxia type 2 ⚠
p.Arg1846Trp Single submitter Inborn genetic diseases
p.Arg1879Gln Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg1923Gln Single submitter episodic ataxia type 2 ⚠
p.Arg192Trp Single submitter episodic ataxia type 2 ⚠
p.Arg1966Gln Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg1966Trp Single submitter episodic ataxia type 2 ⚠
p.Arg1977Cys Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg1982Gln Single submitter migraine, familial hemiplegic, 1 ⚠
p.Arg198Gln Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg2034His Single submitter episodic ataxia type 2 ⚠
p.Arg2068Gln Single submitter Inborn genetic diseases ⚠
p.Arg2089Gln Single submitter Inborn genetic diseases ⚠
p.Arg2089Trp Single submitter episodic ataxia type 2 ⚠
p.Arg2102= Single submitter developmental and epileptic encephalopathy, 42
p.Arg2106Gln Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg2106Trp Single submitter spinocerebellar ataxia type 6 ⚠
p.Arg2123Pro Single submitter migraine, familial hemiplegic, 1 ⚠
p.Arg2133Gln Single submitter episodic ataxia type 2 ⚠
p.Arg2134Cys Single submitter Inborn genetic diseases ⚠
p.Arg2150Gln Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg2150Trp Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg2154Gln Single submitter episodic ataxia type 2 ⚠
p.Arg2154Trp Single submitter Inborn genetic diseases ⚠
p.Arg2155Cys Single submitter episodic ataxia type 2 ⚠
p.Arg2155His Single submitter episodic ataxia type 2 ⚠
p.Arg2155Leu Single submitter Inborn genetic diseases ⚠
p.Arg2156Cys Single submitter episodic ataxia type 2 ⚠
p.Arg2156Gly Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg2156His Single submitter episodic ataxia type 2 ⚠
p.Arg2158Cys Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg2158His Single submitter episodic ataxia type 2 ⚠
p.Arg2161Cys Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg2161His Single submitter CACNA1A-related disorder ⚠
p.Arg2165Cys Single submitter migraine, familial hemiplegic, 1 ⚠
p.Arg2165His Single submitter Inborn genetic diseases ⚠
p.Arg2169Cys Single submitter episodic ataxia type 2 ⚠
p.Arg2201Trp Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg2205Gly Single submitter episodic ataxia type 2 ⚠
p.Arg2205Trp Single submitter Inborn genetic diseases ⚠
p.Arg2227Cys Single submitter episodic ataxia type 2 ⚠
p.Arg2227His Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg2227Leu Single submitter episodic ataxia type 2 ⚠
p.Arg2232Gln Single submitter episodic ataxia type 2 ⚠
p.Arg2232Trp Single submitter episodic ataxia type 2 ⚠
p.Arg2239Trp Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg2241Gln Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg2241Gly Single submitter episodic ataxia type 2 ⚠
p.Arg2244His Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg2247His Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg381Trp Single submitter episodic ataxia type 2 ⚠
p.Arg421Gln Single submitter episodic ataxia type 2 ⚠
p.Arg454Gln Single submitter episodic ataxia type 2 ⚠
p.Arg476His Single submitter episodic ataxia type 2 ⚠
p.Arg480Cys Single submitter episodic ataxia type 2 ⚠
p.Arg481His Single submitter episodic ataxia type 2 ⚠
p.Arg68Gln Single submitter episodic ataxia type 2 ⚠
p.Arg802Ser Single submitter episodic ataxia type 2 ⚠
p.Arg812Trp Single submitter episodic ataxia type 2 ⚠
p.Arg839Gln Single submitter Inborn genetic diseases ⚠
p.Arg867Pro Single submitter Inborn genetic diseases ⚠
p.Arg893Trp Single submitter episodic ataxia type 2 ⚠
p.Arg899His Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg906Gln Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Arg922Gln Single submitter Inborn genetic diseases ⚠
p.Arg922Leu Single submitter episodic ataxia type 2 ⚠
p.Arg930Trp Single submitter episodic ataxia type 2 ⚠
p.Arg935Gln Single submitter migraine, familial hemiplegic, 1 ⚠
p.Arg956Leu Single submitter episodic ataxia type 2 ⚠
p.Arg980Cys Single submitter episodic ataxia type 2 ⚠
p.Arg984Trp Single submitter autism spectrum disorder ⚠
p.Arg987Pro Single submitter Inborn genetic diseases ⚠
p.Asn1155Ser Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Asn1179His Single submitter episodic ataxia type 2 ⚠
p.Asn1274= Single submitter Inborn genetic diseases
p.Asn1803Thr Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Asn1932Ser Single submitter episodic ataxia type 2 ⚠
p.Asn2111Asp Single submitter episodic ataxia type 2 ⚠
p.Asn283Ser Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Asn353Lys Single submitter episodic ataxia type 2 ⚠
p.Asn70Ser Single submitter episodic ataxia type 2 ⚠
p.Asn718= Single submitter developmental and epileptic encephalopathy, 42
p.Asn755= Single submitter episodic ataxia type 2
p.Asn834Thr Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Asp1021Glu Single submitter episodic ataxia type 2 ⚠
p.Asp1058Glu Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Asp1192Asn Single submitter episodic ataxia type 2 ⚠
p.Asp1208Asn Single submitter CACNA1A-related disorder ⚠
p.Asp1212Tyr Single submitter episodic ataxia type 2 ⚠
p.Asp123Asn Single submitter CACNA1A-related disorder ⚠
p.Asp1316Asn Single submitter episodic ataxia type 2 ⚠
p.Asp1337Tyr Single submitter spinocerebellar ataxia type 6 ⚠
p.Asp1407= Single submitter Inborn genetic diseases
p.Asp1719= Single submitter developmental and epileptic encephalopathy, 42
p.Asp1719Asn Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Asp1724Asn Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Asp1914Asn Single submitter episodic ataxia type 2 ⚠
p.Asp1914Gly Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Asp2054Asn Single submitter Inborn genetic diseases ⚠
p.Asp2054Glu Single submitter episodic ataxia type 2 ⚠
p.Asp2077Glu Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Asp2157Asn Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Asp302Gly Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Asp516Asn Single submitter Inborn genetic diseases ⚠
p.Cys1174Gly Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Gln1304Pro Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Gln2325_Ala2326insGlnGlnGln Single submitter spinocerebellar ataxia type 6
p.Gln54= Single submitter developmental and epileptic encephalopathy, 42
p.Gln828Arg Single submitter episodic ataxia type 2 ⚠
p.Glu1014Lys Single submitter episodic ataxia type 2 ⚠
p.Glu1141Lys Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Glu1198Gly Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Glu1203Lys Single submitter episodic ataxia type 2 ⚠
p.Glu1206= Single submitter Inborn genetic diseases
p.Glu1206del Single submitter episodic ataxia type 2
p.Glu2026Gly Single submitter episodic ataxia type 2 ⚠
p.Glu2079Lys Single submitter episodic ataxia type 2 ⚠
p.Glu2251Lys Single submitter episodic ataxia type 2 ⚠
p.Glu2254Gln Single submitter episodic ataxia type 2 ⚠
p.Glu246Lys Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Glu463= Single submitter developmental and epileptic encephalopathy, 42
p.Glu512Lys Single submitter spinocerebellar ataxia type 6 ⚠
p.Glu829Lys Single submitter episodic ataxia type 2 ⚠
p.Glu907Gly Single submitter episodic ataxia type 2 ⚠
p.Glu917Lys Single submitter episodic ataxia type 2 ⚠
p.Gly1015Arg Single submitter episodic ataxia type 2 ⚠
p.Gly1036Arg Single submitter episodic ataxia type 2 ⚠
p.Gly1041Val Single submitter episodic ataxia type 2 ⚠
p.Gly1083Ser Single submitter Inborn genetic diseases ⚠
p.Gly1089Cys Single submitter episodic ataxia type 2 ⚠
p.Gly1089Ser Single submitter Inborn genetic diseases ⚠
p.Gly1104_Pro1105dup Single submitter developmental and epileptic encephalopathy, 1
p.Gly1135Ser Single submitter spinocerebellar ataxia type 6 ⚠
p.Gly1213Asp Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Gly1213Ser Single submitter episodic ataxia type 2 ⚠
p.Gly1674Asp Single submitter episodic ataxia type 2 ⚠
p.Gly2015Glu Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Gly2071Ser Single submitter episodic ataxia type 2 ⚠
p.Gly2086Val Single submitter episodic ataxia type 2 ⚠
p.Gly2308Ser Single submitter Inborn genetic diseases ⚠
p.Gly230Ser Single submitter episodic ataxia type 2 ⚠
p.Gly230Val Single submitter migraine, familial hemiplegic, 1 ⚠
p.Gly29= Single submitter episodic ataxia type 2
p.Gly411= Single submitter developmental and epileptic encephalopathy, 42
p.Gly850Ser Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Gly898Ser Single submitter Inborn genetic diseases ⚠
p.Gly918= Single submitter episodic ataxia type 2
p.Gly937Arg Single submitter episodic ataxia type 2 ⚠
p.Gly938Arg Single submitter episodic ataxia type 2 ⚠
p.Gly938Asp Single submitter episodic ataxia type 2 ⚠
p.Gly938Val Single submitter episodic ataxia type 2 ⚠
p.Gly988Asp Single submitter Inborn genetic diseases ⚠
p.Gly998Arg Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.His1026Gln Single submitter episodic ataxia type 2 ⚠
p.His1826Arg Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.His2151Tyr Single submitter episodic ataxia type 2 ⚠
p.His2210Gln Single submitter Inborn genetic diseases ⚠
p.His2216_His2219del Single submitter episodic ataxia type 2
p.His2217_His2219del Single submitter episodic ataxia type 2
p.His2218_His2219del Single submitter developmental and epileptic encephalopathy, 42
p.His2218_His2219dup Single submitter CACNA1A-related disorder
p.His2219_Pro2220insHisHis Single submitter developmental and epileptic encephalopathy, 42
p.His2219dup Single submitter episodic ataxia type 2
p.His865Leu Single submitter episodic ataxia type 2 ⚠
p.His903Tyr Single submitter episodic ataxia type 2 ⚠
p.His958Asn Single submitter Inborn genetic diseases ⚠
p.His961Tyr Single submitter episodic ataxia type 2 ⚠
p.Ile108Val Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Ile346= Single submitter episodic ataxia type 2
p.Ile457Val Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Ile559Thr Single submitter episodic ataxia type 2 ⚠
p.Ile570Val Single submitter episodic ataxia type 2 ⚠
p.Leu1178Ile Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Leu1178Val Single submitter Inborn genetic diseases ⚠
p.Leu1242Val Single submitter Inborn genetic diseases ⚠
p.Leu1823Pro Single submitter ⚠
p.Leu227Arg Single submitter spinocerebellar ataxia type 6 ⚠
p.Leu231Arg Single submitter migraine, familial hemiplegic, 1 ⚠
p.Leu233= Single submitter episodic ataxia type 2
p.Leu305= Single submitter developmental and epileptic encephalopathy, 42
p.Leu324del Single submitter
p.Leu356Pro Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Leu709Phe Single submitter episodic ataxia type 2 ⚠
p.Leu910Arg Single submitter Inborn genetic diseases ⚠
p.Lys1437Arg Single submitter episodic ataxia type 2 ⚠
p.Lys1772= Single submitter episodic ataxia type 2
p.Lys594= Single submitter episodic ataxia type 2
p.Lys768Asn Single submitter episodic ataxia type 2 ⚠
p.Met1217Val Single submitter episodic ataxia type 2 ⚠
p.Met1572Val Single submitter episodic ataxia type 2 ⚠
p.Met1852Thr Single submitter developmental and epileptic encephalopathy, 42
p.Met797Ile Single submitter episodic ataxia type 2 ⚠
p.Met815Val Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Phe1377= Single submitter episodic ataxia type 2
p.Phe1554Leu Single submitter episodic ataxia type 2 ⚠
p.Phe301Leu Single submitter episodic ataxia type 2 ⚠
p.Phe363Ser Single submitter Inborn genetic diseases ⚠
p.Pro1059Ser Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Pro1103= Single submitter episodic ataxia type 2
p.Pro1103Leu Single submitter Inborn genetic diseases ⚠
p.Pro1116Leu Single submitter Inborn genetic diseases ⚠
p.Pro1128Leu Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Pro1136Thr Single submitter episodic ataxia type 2 ⚠
p.Pro1137Arg Single submitter episodic ataxia type 2 ⚠
p.Pro1137Leu Single submitter Inborn genetic diseases ⚠
p.Pro1175= Single submitter developmental and epileptic encephalopathy, 42
p.Pro1177Arg Single submitter episodic ataxia type 2 ⚠
p.Pro1177His Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Pro1177Leu Single submitter episodic ataxia type 2 ⚠
p.Pro2001Ser Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Pro2047= Single submitter episodic ataxia type 2
p.Pro2047Leu Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Pro2120Ser Single submitter episodic ataxia type 2 ⚠
p.Pro2144Leu Single submitter episodic ataxia type 2 ⚠
p.Pro2220His Single submitter episodic ataxia type 2 ⚠
p.Pro2221Leu Single submitter episodic ataxia type 2 ⚠
p.Pro2222Leu Single submitter Inborn genetic diseases ⚠
p.Pro2223Ser Single submitter episodic ataxia type 2 ⚠
p.Pro2233Leu Single submitter Inborn genetic diseases ⚠
p.Pro896Arg Single submitter episodic ataxia type 2 ⚠
p.Pro928Leu Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Pro947Leu Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Ser1040Leu Single submitter developmental and epileptic encephalopathy, 42 ⚠
p.Ser1078Leu Single submitter developmental and epileptic encephalopathy, 42 ⚠

Benign 196

c.1082+182G>A Multiple submitters
c.1082+47T>C Multiple submitters
c.1083-100A>C Multiple submitters
c.1083-104C>A Multiple submitters
c.1198+168T>C Multiple submitters
c.1198+301G>C Multiple submitters
c.1198+318G>A Multiple submitters
c.1198+328A>T Multiple submitters
c.1198+48G>A Multiple submitters developmental and epileptic encephalopathy, 42
c.1199-194A>G Multiple submitters
c.1199-31A>G Multiple submitters spinocerebellar ataxia type 6
c.1255+132T>C Multiple submitters
c.1345+72dup Multiple submitters
c.1345+76G>A Multiple submitters
c.1555+60C>T Multiple submitters
c.1556-93T>A Multiple submitters
c.1668+160T>C Multiple submitters
c.1781+18C>A Multiple submitters episodic ataxia type 2
c.1782-20C>T Multiple submitters episodic ataxia type 2
c.1914-39G>A Multiple submitters
c.1987-98C>T Multiple submitters spinocerebellar ataxia type 6
c.2104+27G>A Multiple submitters
c.2173-12C>T Multiple submitters episodic ataxia type 2
c.2280-68C>A Multiple submitters developmental and epileptic encephalopathy, 42
c.293+53G>A Multiple submitters migraine, familial hemiplegic, 1
c.3554-90G>A Multiple submitters
c.3693-107G>A Multiple submitters
c.3693-127T>C Multiple submitters
c.3693-249G>A Multiple submitters
c.3883-90G>A Multiple submitters
c.3989+13G>T Multiple submitters episodic ataxia type 2
c.400-123G>T Multiple submitters
c.4089+71T>C Multiple submitters developmental and epileptic encephalopathy, 42
c.4591-9C>G Multiple submitters episodic ataxia type 2
c.4755+100A>G Multiple submitters
c.4756-97G>A Multiple submitters developmental and epileptic encephalopathy, 42
c.4867-71A>C Multiple submitters migraine, familial hemiplegic, 1
c.4950+3617G>A Multiple submitters
c.4950+3703A>C Multiple submitters
c.4950+3704C>T Multiple submitters
c.4950+72G>A Multiple submitters
c.4950+96A>C Multiple submitters spinocerebellar ataxia type 6
c.5249+78G>T Multiple submitters
c.540-30C>G Multiple submitters
c.5401-14C>T Multiple submitters developmental and epileptic encephalopathy, 42
c.5528+1223C>T Multiple submitters
c.5529-1076C>A Multiple submitters
c.5529-1078C>A Multiple submitters
c.5625+50CTT[4] Multiple submitters spinocerebellar ataxia type 6
c.5731+49C>T Multiple submitters developmental and epileptic encephalopathy, 42
c.5732-6T>C Multiple submitters developmental and epileptic encephalopathy, 42
c.5840-82C>G Multiple submitters
c.5941-205T>C Multiple submitters spinocerebellar ataxia type 6
c.5941-52C>T Multiple submitters
c.6189+74A>C Multiple submitters episodic ataxia type 2
c.6303+69A>C Multiple submitters
c.6303+94del Multiple submitters spinocerebellar ataxia type 6
c.6526+124G>C Multiple submitters spinocerebellar ataxia type 6
c.6526+137A>G Multiple submitters spinocerebellar ataxia type 6
c.6526+84G>A Multiple submitters
c.6780+27G>A Multiple submitters
c.784+313C>T Multiple submitters
c.979-40C>G Multiple submitters
c.*147C>A Multiple submitters
p.Ala1079= Multiple submitters episodic ataxia type 2
p.Ala154= Multiple submitters episodic ataxia type 2
p.Ala1913= Multiple submitters episodic ataxia type 2
p.Ala21Val Multiple submitters episodic ataxia type 2
p.Ala710= Multiple submitters developmental and epileptic encephalopathy, 42
p.Arg1019= Multiple submitters episodic ataxia type 2
p.Gln2320_Gln2325del Multiple submitters episodic ataxia type 2
p.Gln2325del Multiple submitters spinocerebellar ataxia type 6
p.Glu1998= Multiple submitters Inborn genetic diseases
p.Glu292= Multiple submitters episodic ataxia type 2
p.Glu731Ala Multiple submitters episodic ataxia type 2 ⚠
p.Glu917Asp Multiple submitters Inborn genetic diseases
p.Glu992Val Multiple submitters episodic ataxia type 2 ⚠
p.Phe1287= Multiple submitters episodic ataxia type 2
p.Pro1010Ala Multiple submitters episodic ataxia type 2
p.Pro2279= Multiple submitters
p.Pro2455= Multiple submitters
p.Pro913= Multiple submitters episodic ataxia type 2
p.Ser1468= Multiple submitters developmental and epileptic encephalopathy, 42
p.Ser2126= Multiple submitters Inborn genetic diseases
p.Ser942= Multiple submitters episodic ataxia type 2
p.Thr193= Multiple submitters episodic ataxia type 2
p.Thr2042= Multiple submitters episodic ataxia type 2
p.Thr542= Multiple submitters episodic ataxia type 2
p.Thr697= Multiple submitters episodic ataxia type 2
p.Tyr2477= Multiple submitters
p.Val1182= Multiple submitters Inborn genetic diseases
p.Val592= Multiple submitters episodic ataxia type 2
c.1082+308T>C Single submitter
c.1083-266C>T Single submitter
c.1083-68_1083-63del Single submitter
c.1083-68_1083-65del Single submitter
c.1083-68_1083-67del Single submitter
c.1198+326T>A Single submitter
c.1255+38G>A Single submitter
c.1256-194T>A Single submitter
c.1256-194T>G Single submitter
c.1256-213A>G Single submitter
c.1256-224C>A Single submitter
c.1256-240T>C Single submitter
c.1256-267TAAA[2] Single submitter
c.1555+121C>T Single submitter
c.1555+162G>A Single submitter
c.1555+183A>C Single submitter
c.1555+259G>A Single submitter
c.1556-164G>A Single submitter
c.1556-17C>T Single submitter developmental and epileptic encephalopathy, 42
c.1556-289A>T Single submitter
c.1668+339C>T Single submitter
c.1669-346G>A Single submitter
c.1782-37C>T Single submitter
c.2173-284_2173-283insC Single submitter
c.2173-284T>A Single submitter
c.2279+223dup Single submitter
c.2279+232del Single submitter
c.2280-212C>T Single submitter
c.293+277A>G Single submitter
c.3089+34C>T Single submitter
c.3090-165A>G Single submitter
c.3692+156G>A Single submitter
c.3693-19G>A Single submitter episodic ataxia type 2
c.3823-295G>T Single submitter
c.3882+196C>T Single submitter
c.3989+206del Single submitter
c.400-173C>T Single submitter
c.4089+22G>A Single submitter
c.4089+29G>T Single submitter
c.4090-165G>A Single submitter
c.4388+221_4388+233del Single submitter
c.4388+221C>A Single submitter
c.4389-223C>T Single submitter
c.4590+133A>G Single submitter
c.4590+184T>C Single submitter
c.4591-152A>G Single submitter
c.4755+46G>A Single submitter
c.4756-216del Single submitter
c.4756-238G>A Single submitter
c.4867-301A>G Single submitter
c.4950+15A>C Single submitter episodic ataxia type 2
c.5068-49C>T Single submitter
c.5249+165_5249+189del Single submitter
c.5249+209C>T Single submitter
c.5249+29T>C Single submitter
c.5250-27G>A Single submitter
c.5400+36C>G Single submitter
c.5528+1019del Single submitter
c.5529-1078CT[6] Single submitter
c.5529-1080_5529-1077del Single submitter
c.5529-1098AT[9] Single submitter
c.5529-969_5529-968del Single submitter
c.5625+279C>T Single submitter
c.5625+63dup Single submitter
c.5731+178_5731+180del Single submitter
c.5731+330dup Single submitter
c.5732-311G>A Single submitter
c.5840-15TG[5] Single submitter developmental and epileptic encephalopathy, 42
c.5940+14C>A Single submitter developmental and epileptic encephalopathy, 42
c.5940+185G>A Single submitter
c.5940+229C>T Single submitter
c.5941-109GT[10] Single submitter
c.5941-109GT[12] Single submitter
c.5941-109GT[14] Single submitter
c.5941-109GT[15] Single submitter
c.5941-38A>C Single submitter
c.6050+14del Single submitter developmental and epileptic encephalopathy, 42
c.6189+35G>A Single submitter
c.6303+38C>T Single submitter
c.632-111= Single submitter
c.632-211dup Single submitter
c.632-3dup Single submitter episodic ataxia type 2
c.6339+309T>G Single submitter
c.6339+314T>C Single submitter
c.6340-192G>A Single submitter
c.6780+256G>C Single submitter
c.6781-121_6781-116del Single submitter
c.6781-130_6781-122del Single submitter
c.6781-139_6781-122del Single submitter
c.6781-148TCC[4] Single submitter
c.785-120del Single submitter
c.785-239dup Single submitter
c.978+104G>A Single submitter
c.979-243A>G Single submitter
c.-76GCG[9] Single submitter
c.*544C>T Single submitter
p.Ala1507= Single submitter developmental and epileptic encephalopathy, 42
p.Ala920Val Single submitter episodic ataxia type 2
p.Asn734Lys Single submitter developmental and epileptic encephalopathy, 42
p.Gln2322delinsProGlu Single submitter
p.Glu394= Single submitter
p.Leu1107= Single submitter developmental and epileptic encephalopathy, 42
p.Thr107= Single submitter developmental and epileptic encephalopathy, 42
p.Thr1647= Single submitter episodic ataxia type 2

Benign/Likely benign 87

c.1083-4C>G Multiple submitters Inborn genetic diseases
c.1199-17G>C Multiple submitters episodic ataxia type 2
c.1345+7C>T Multiple submitters developmental and epileptic encephalopathy, 42
c.1668+7G>A Multiple submitters episodic ataxia type 2
c.1781+7C>A Multiple submitters episodic ataxia type 2
c.1914-4G>A Multiple submitters Inborn genetic diseases
c.294-6C>T Multiple submitters episodic ataxia type 2
c.3693-20C>T Multiple submitters episodic ataxia type 2
c.3882+13T>C Multiple submitters episodic ataxia type 2
c.3883-15T>C Multiple submitters episodic ataxia type 2
c.3990-9C>T Multiple submitters episodic ataxia type 2
c.4089+5_4089+6del Multiple submitters episodic ataxia type 2
c.4866+10A>G Multiple submitters episodic ataxia type 2
c.4866+13T>C Multiple submitters episodic ataxia type 2
c.5067+20G>A Multiple submitters developmental and epileptic encephalopathy, 42
c.5400+15A>C Multiple submitters developmental and epileptic encephalopathy, 42
c.5731+14del Multiple submitters episodic ataxia type 2
c.5840-14G>A Multiple submitters episodic ataxia type 2
c.5840-7C>T Multiple submitters developmental and epileptic encephalopathy, 42
c.6339+10G>C Multiple submitters episodic ataxia type 2
c.6527-19T>C Multiple submitters episodic ataxia type 2
c.784+10C>T Multiple submitters episodic ataxia type 2
c.979-10C>A Multiple submitters episodic ataxia type 2
p.990EG[2] Multiple submitters Inborn genetic diseases
p.Ala106= Multiple submitters developmental and epileptic encephalopathy, 42
p.Ala1756= Multiple submitters episodic ataxia type 2
p.Ala1836= Multiple submitters episodic ataxia type 2
p.Ala2443Val Multiple submitters episodic ataxia type 2
p.Ala453Thr Multiple submitters migraine, familial hemiplegic, 1 ⚠
p.Ala920Gly Multiple submitters episodic ataxia type 2
p.Arg1234His Multiple submitters episodic ataxia type 2 ⚠
p.Arg2089= Multiple submitters episodic ataxia type 2
p.Arg2156= Multiple submitters episodic ataxia type 2
p.Arg2161= Multiple submitters developmental and epileptic encephalopathy, 42
p.Arg2195Gln Multiple submitters episodic ataxia type 2 ⚠
p.Arg893Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg948= Multiple submitters Inborn genetic diseases
p.Asn1269= Multiple submitters developmental and epileptic encephalopathy, 42
p.Asn296= Multiple submitters developmental and epileptic encephalopathy, 42
p.Asp1102Asn Multiple submitters Inborn genetic diseases
p.Asp1470= Multiple submitters developmental and epileptic encephalopathy, 42
p.Asp1722= Multiple submitters Inborn genetic diseases
p.Asp1919= Multiple submitters episodic ataxia type 2
p.Asp2196_Arg2199del Multiple submitters episodic ataxia type 2
p.Gln1153Glu Multiple submitters developmental and epileptic encephalopathy, 42
p.Gln2317_Gln2325del Multiple submitters developmental and epileptic encephalopathy, 42
p.Gln2324_Gln2325del Multiple submitters developmental and epileptic encephalopathy, 42
p.Gln2324_Gln2325dup Multiple submitters developmental and epileptic encephalopathy, 42
p.Gln2325_Ala2326insGlu Multiple submitters Inborn genetic diseases
p.Gln2325dup Multiple submitters episodic ataxia type 2
p.Glu1203= Multiple submitters episodic ataxia type 2
p.Glu2021Lys Multiple submitters Inborn genetic diseases
p.Glu917= Multiple submitters episodic ataxia type 2
p.Glu919= Multiple submitters episodic ataxia type 2
p.Glu941= Multiple submitters developmental and epileptic encephalopathy, 42
p.Gly1104Ser Multiple submitters episodic ataxia type 2
p.Gly1953= Multiple submitters Inborn genetic diseases
p.Gly2425Asp Multiple submitters ⚠
p.Gly266Ser Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.His2219= Multiple submitters Inborn genetic diseases
p.His2219del Multiple submitters Inborn genetic diseases
p.His2480Gln Multiple submitters
p.Ile524= Multiple submitters developmental and epileptic encephalopathy, 42
p.Ile566= Multiple submitters episodic ataxia type 2
p.Leu1446= Multiple submitters episodic ataxia type 2
p.Lys1202del Multiple submitters episodic ataxia type 2
p.Lys1437= Multiple submitters developmental and epileptic encephalopathy, 42
p.Phe1632= Multiple submitters episodic ataxia type 2
p.Phe635= Multiple submitters developmental and epileptic encephalopathy, 42
p.Phe661= Multiple submitters Inborn genetic diseases
p.Pro1128= Multiple submitters developmental and epileptic encephalopathy, 42
p.Pro1137Ala Multiple submitters episodic ataxia type 2
p.Pro1140= Multiple submitters episodic ataxia type 2
p.Pro2028= Multiple submitters episodic ataxia type 2
p.Pro896Leu Multiple submitters episodic ataxia type 2
p.Pro913Ser Multiple submitters episodic ataxia type 2
p.Pro969= Multiple submitters developmental and epileptic encephalopathy, 42
p.Ser218= Multiple submitters episodic ataxia type 2
p.Ser456= Multiple submitters developmental and epileptic encephalopathy, 42
p.Thr1454= Multiple submitters episodic ataxia type 2
p.Thr1544= Multiple submitters developmental and epileptic encephalopathy, 42
p.Thr1642= Multiple submitters episodic ataxia type 2
p.Thr2114= Multiple submitters Inborn genetic diseases
p.Thr665= Multiple submitters Inborn genetic diseases
p.Tyr538= Multiple submitters developmental and epileptic encephalopathy, 42
p.Val1039= Multiple submitters episodic ataxia type 2
p.Val506= Multiple submitters Inborn genetic diseases

Likely benign 1255

Showing the top 300 by review status; the full set is in the sitemap.

c.1198+16C>A Multiple submitters episodic ataxia type 2
c.1198+228C>T Multiple submitters
c.1669-17C>T Multiple submitters episodic ataxia type 2
c.1987-16C>A Multiple submitters episodic ataxia type 2
c.2105-8A>G Multiple submitters episodic ataxia type 2
c.2172+16G>A Multiple submitters episodic ataxia type 2
c.2172+9G>A Multiple submitters developmental and epileptic encephalopathy, 42
c.2173-11G>A Multiple submitters episodic ataxia type 2
c.3692+20A>G Multiple submitters episodic ataxia type 2
c.3883-5C>T Multiple submitters developmental and epileptic encephalopathy, 42
c.3989+11T>C Multiple submitters episodic ataxia type 2
c.3989+13G>A Multiple submitters episodic ataxia type 2
c.400-28C>T Multiple submitters
c.4089+16G>A Multiple submitters developmental and epileptic encephalopathy, 42
c.4251-4G>A Multiple submitters episodic ataxia type 2
c.4388+12G>A Multiple submitters episodic ataxia type 2
c.4388+8G>A Multiple submitters developmental and epileptic encephalopathy, 42
c.4591-4G>A Multiple submitters developmental and epileptic encephalopathy, 42
c.4591-5C>T Multiple submitters developmental and epileptic encephalopathy, 42
c.4756-4del Multiple submitters developmental and epileptic encephalopathy, 42
c.4867-8C>T Multiple submitters episodic ataxia type 2
c.4951-14C>T Multiple submitters episodic ataxia type 2
c.5067+11G>A Multiple submitters developmental and epileptic encephalopathy, 42
c.5134-20G>A Multiple submitters episodic ataxia type 2
c.5134-4A>G Multiple submitters episodic ataxia type 2
c.5250-55G>A Multiple submitters
c.539+10G>A Multiple submitters episodic ataxia type 2
c.539+14G>A Multiple submitters developmental and epileptic encephalopathy, 42
c.539+17A>G Multiple submitters episodic ataxia type 2
c.539+20C>T Multiple submitters episodic ataxia type 2
c.539+8G>A Multiple submitters episodic ataxia type 2
c.540-20T>C Multiple submitters episodic ataxia type 2
c.5400+18G>A Multiple submitters episodic ataxia type 2
c.5400+7C>T Multiple submitters episodic ataxia type 2
c.5400+8T>C Multiple submitters episodic ataxia type 2
c.5401-10G>A Multiple submitters episodic ataxia type 2
c.5401-10G>T Multiple submitters episodic ataxia type 2
c.5401-35C>T Multiple submitters
c.5528+1273T>C Multiple submitters episodic ataxia type 2
c.5528+16G>A Multiple submitters developmental and epileptic encephalopathy, 42
c.5528+6A>G Multiple submitters episodic ataxia type 2
c.5625+65T>C Multiple submitters
c.5626-56G>A Multiple submitters
c.5731+14A>G Multiple submitters episodic ataxia type 2
c.5731+19C>T Multiple submitters episodic ataxia type 2
c.5731+20G>A Multiple submitters episodic ataxia type 2
c.5732-20T>C Multiple submitters episodic ataxia type 2
c.5732-75A>G Multiple submitters
c.5732-8C>T Multiple submitters episodic ataxia type 2
c.5839+15C>T Multiple submitters episodic ataxia type 2
c.5840-16G>A Multiple submitters episodic ataxia type 2
c.5840-17C>T Multiple submitters episodic ataxia type 2
c.5940+12G>A Multiple submitters episodic ataxia type 2
c.5940+15G>A Multiple submitters episodic ataxia type 2
c.6050+23A>C Multiple submitters
c.6050+9C>T Multiple submitters episodic ataxia type 2
c.6189+41G>A Multiple submitters
c.6189+9G>T Multiple submitters episodic ataxia type 2
c.6190-4G>A Multiple submitters episodic ataxia type 2
c.6190-5C>T Multiple submitters episodic ataxia type 2
c.6303+14C>T Multiple submitters developmental and epileptic encephalopathy, 42
c.631+14C>T Multiple submitters episodic ataxia type 2
c.632-7C>A Multiple submitters episodic ataxia type 2
c.632-8C>G Multiple submitters episodic ataxia type 2
c.6339+11C>T Multiple submitters episodic ataxia type 2
c.6339+12G>A Multiple submitters episodic ataxia type 2
c.6339+9C>T Multiple submitters episodic ataxia type 2
c.6340-19G>A Multiple submitters episodic ataxia type 2
c.6526+11C>G Multiple submitters episodic ataxia type 2
c.6527-134C>T Multiple submitters
c.6527-16C>T Multiple submitters developmental and epileptic encephalopathy, 42
c.6527-8C>T Multiple submitters developmental and epileptic encephalopathy, 42
c.6781-6G>A Multiple submitters episodic ataxia type 2
c.784+9A>G Multiple submitters developmental and epileptic encephalopathy, 42
c.785-93G>A Multiple submitters
c.979-7C>T Multiple submitters episodic ataxia type 2
c.*219A>C Multiple submitters
c.*302A>G Multiple submitters
p.Ala1088= Multiple submitters developmental and epileptic encephalopathy, 42
p.Ala1261= Multiple submitters developmental and epileptic encephalopathy, 42
p.Ala1262= Multiple submitters episodic ataxia type 2
p.Ala1752= Multiple submitters developmental and epileptic encephalopathy, 42
p.Ala1807= Multiple submitters episodic ataxia type 2
p.Ala183= Multiple submitters developmental and epileptic encephalopathy, 42
p.Ala2005= Multiple submitters developmental and epileptic encephalopathy, 42
p.Ala21= Multiple submitters episodic ataxia type 2
p.Ala2431Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala487= Multiple submitters episodic ataxia type 2
p.Ala655= Multiple submitters episodic ataxia type 2
p.Ala733= Multiple submitters developmental and epileptic encephalopathy, 42
p.Ala840= Multiple submitters episodic ataxia type 2
p.Ala951= Multiple submitters developmental and epileptic encephalopathy, 42
p.Ala973= Multiple submitters episodic ataxia type 2
p.Arg1161= Multiple submitters developmental and epileptic encephalopathy, 42
p.Arg1431= Multiple submitters developmental and epileptic encephalopathy, 42
p.Arg1626= Multiple submitters developmental and epileptic encephalopathy, 42
p.Arg2158= Multiple submitters developmental and epileptic encephalopathy, 42
p.Arg2244= Multiple submitters developmental and epileptic encephalopathy, 42
p.Arg2259= Multiple submitters developmental and epileptic encephalopathy, 42
p.Arg2411= Multiple submitters
p.Arg906= Multiple submitters developmental and epileptic encephalopathy, 42
p.Arg980= Multiple submitters Inborn genetic diseases
p.Asn1070= Multiple submitters episodic ataxia type 2
p.Asn1188= Multiple submitters developmental and epileptic encephalopathy, 42
p.Asn1375= Multiple submitters episodic ataxia type 2
p.Asn670= Multiple submitters episodic ataxia type 2
p.Asp1207= Multiple submitters episodic ataxia type 2
p.Asp2136= Multiple submitters episodic ataxia type 2
p.Asp410= Multiple submitters episodic ataxia type 2
p.Asp675= Multiple submitters developmental and epileptic encephalopathy, 42
p.Asp800= Multiple submitters episodic ataxia type 2
p.Asp800Glu Multiple submitters developmental and epileptic encephalopathy, 42
p.Gln119= Multiple submitters developmental and epileptic encephalopathy, 42
p.Gln2243= Multiple submitters developmental and epileptic encephalopathy, 42
p.Gln228= Multiple submitters episodic ataxia type 2
p.Gln288= Multiple submitters developmental and epileptic encephalopathy, 42
p.Gln633= Multiple submitters developmental and epileptic encephalopathy, 42
p.Gln763= Multiple submitters episodic ataxia type 2
p.Glu1063= Multiple submitters
p.Glu1204= Multiple submitters developmental and epileptic encephalopathy, 42
p.Glu1434= Multiple submitters episodic ataxia type 2
p.Glu564= Multiple submitters episodic ataxia type 2
p.Glu829= Multiple submitters episodic ataxia type 2
p.Glu842Lys Multiple submitters episodic ataxia type 2
p.Gly1015= Multiple submitters episodic ataxia type 2
p.Gly1036= Multiple submitters episodic ataxia type 2
p.Gly1041= Multiple submitters episodic ataxia type 2
p.Gly1151Ser Multiple submitters episodic ataxia type 2
p.Gly1213= Multiple submitters episodic ataxia type 2
p.Gly1481= Multiple submitters episodic ataxia type 2
p.Gly1911= Multiple submitters episodic ataxia type 2
p.Gly2023Ser Multiple submitters episodic ataxia type 2
p.Gly2176= Multiple submitters episodic ataxia type 2
p.Gly2261Asp Multiple submitters episodic ataxia type 2 ⚠
p.Gly35= Multiple submitters developmental and epileptic encephalopathy, 42
p.Gly357= Multiple submitters episodic ataxia type 2
p.Gly39= Multiple submitters developmental and epileptic encephalopathy, 42
p.Gly676= Multiple submitters developmental and epileptic encephalopathy, 42
p.Gly873= Multiple submitters episodic ataxia type 2
p.Gly876Ser Multiple submitters developmental and epileptic encephalopathy, 42
p.Gly885= Multiple submitters developmental and epileptic encephalopathy, 42
p.Gly965= Multiple submitters episodic ataxia type 2
p.Gly993= Multiple submitters developmental and epileptic encephalopathy, 42
p.His1087= Multiple submitters episodic ataxia type 2
p.His2020= Multiple submitters developmental and epileptic encephalopathy, 42
p.His2214= Multiple submitters episodic ataxia type 2
p.His2218= Multiple submitters episodic ataxia type 2
p.His2235= Multiple submitters episodic ataxia type 2
p.His904= Multiple submitters episodic ataxia type 2
p.His929= Multiple submitters episodic ataxia type 2
p.His932= Multiple submitters Inborn genetic diseases
p.Ile1258= Multiple submitters developmental and epileptic encephalopathy, 42
p.Ile1602= Multiple submitters Inborn genetic diseases
p.Ile1631Val Multiple submitters episodic ataxia type 2
p.Ile1677= Multiple submitters episodic ataxia type 2
p.Ile1698= Multiple submitters developmental and epileptic encephalopathy, 42
p.Ile1704= Multiple submitters episodic ataxia type 2
p.Ile1718= Multiple submitters developmental and epileptic encephalopathy, 42
p.Ile224= Multiple submitters developmental and epileptic encephalopathy, 42
p.Ile663= Multiple submitters episodic ataxia type 2
p.Leu1235= Multiple submitters Inborn genetic diseases
p.Leu1242= Multiple submitters developmental and epileptic encephalopathy, 42
p.Leu1250= Multiple submitters episodic ataxia type 2
p.Leu1300= Multiple submitters developmental and epileptic encephalopathy, 42
p.Leu1311= Multiple submitters episodic ataxia type 2
p.Leu1315= Multiple submitters episodic ataxia type 2
p.Leu1696= Multiple submitters developmental and epileptic encephalopathy, 42
p.Leu1765= Multiple submitters developmental and epileptic encephalopathy, 42
p.Leu182= Multiple submitters Inborn genetic diseases
p.Leu1985= Multiple submitters developmental and epileptic encephalopathy, 42
p.Leu404= Multiple submitters developmental and epileptic encephalopathy, 42
p.Leu664= Multiple submitters episodic ataxia type 2
p.Leu793= Multiple submitters developmental and epileptic encephalopathy, 42
p.Lys1096= Multiple submitters episodic ataxia type 2
p.Lys1197= Multiple submitters episodic ataxia type 2
p.Lys1399= Multiple submitters episodic ataxia type 2
p.Lys1528= Multiple submitters developmental and epileptic encephalopathy, 42
p.Lys471= Multiple submitters developmental and epileptic encephalopathy, 42
p.Lys860= Multiple submitters episodic ataxia type 2
p.Phe1536= Multiple submitters developmental and epileptic encephalopathy, 42
p.Phe301= Multiple submitters episodic ataxia type 2
p.Phe452= Multiple submitters episodic ataxia type 2
p.Phe627= Multiple submitters developmental and epileptic encephalopathy, 42
p.Phe641= Multiple submitters developmental and epileptic encephalopathy, 42
p.Pro1094= Multiple submitters episodic ataxia type 2
p.Pro1480= Multiple submitters developmental and epileptic encephalopathy, 42
p.Pro1542= Multiple submitters episodic ataxia type 2
p.Pro1565= Multiple submitters episodic ataxia type 2
p.Pro1860= Multiple submitters
p.Pro1883= Multiple submitters episodic ataxia type 2
p.Pro1993= Multiple submitters developmental and epileptic encephalopathy, 42
p.Pro2120= Multiple submitters episodic ataxia type 2
p.Pro2144= Multiple submitters developmental and epileptic encephalopathy, 42
p.Pro2145= Multiple submitters Inborn genetic diseases
p.Pro2191= Multiple submitters developmental and epileptic encephalopathy, 42
p.Pro2220_Pro2221insHisPro Multiple submitters Inborn genetic diseases
p.Pro2221= Multiple submitters Inborn genetic diseases
p.Pro2421Ala Multiple submitters
p.Pro2421Leu Multiple submitters episodic ataxia type 2
p.Pro269= Multiple submitters developmental and epileptic encephalopathy, 42
p.Pro799= Multiple submitters Inborn genetic diseases
p.Pro813= Multiple submitters developmental and epileptic encephalopathy, 42
p.Pro9= Multiple submitters episodic ataxia type 2
p.Pro99= Multiple submitters episodic ataxia type 2
p.Ser1035= Multiple submitters developmental and epileptic encephalopathy, 42
p.Ser1040= Multiple submitters developmental and epileptic encephalopathy, 42
p.Ser1078= Multiple submitters episodic ataxia type 2
p.Ser1150= Multiple submitters developmental and epileptic encephalopathy, 42
p.Ser1487= Multiple submitters episodic ataxia type 2
p.Ser1766= Multiple submitters developmental and epileptic encephalopathy, 42
p.Ser1798= Multiple submitters episodic ataxia type 2
p.Ser1820= Multiple submitters developmental and epileptic encephalopathy, 42
p.Ser2064= Multiple submitters Inborn genetic diseases
p.Ser2076= Multiple submitters episodic ataxia type 2
p.Ser360= Multiple submitters episodic ataxia type 2
p.Ser515= Multiple submitters Inborn genetic diseases
p.Ser549= Multiple submitters Inborn genetic diseases
p.Ser579= Multiple submitters episodic ataxia type 2
p.Ser779= Multiple submitters episodic ataxia type 2
p.Thr1075= Multiple submitters episodic ataxia type 2
p.Thr1124= Multiple submitters episodic ataxia type 2
p.Thr1167= Multiple submitters developmental and epileptic encephalopathy, 42
p.Thr1570= Multiple submitters episodic ataxia type 2
p.Thr1937= Multiple submitters episodic ataxia type 2
p.Thr1951= Multiple submitters episodic ataxia type 2
p.Thr2053= Multiple submitters episodic ataxia type 2
p.Thr73= Multiple submitters developmental and epileptic encephalopathy, 42
p.Thr817= Multiple submitters developmental and epileptic encephalopathy, 42
p.Thr844= Multiple submitters Inborn genetic diseases
p.Tyr1281= Multiple submitters developmental and epileptic encephalopathy, 42
p.Tyr1423= Multiple submitters developmental and epileptic encephalopathy, 42
p.Tyr1442= Multiple submitters Inborn genetic diseases
p.Tyr1593= Multiple submitters developmental and epileptic encephalopathy, 42
p.Tyr1831= Multiple submitters developmental and epileptic encephalopathy, 42
p.Tyr545= Multiple submitters developmental and epileptic encephalopathy, 42
p.Tyr674= Multiple submitters episodic ataxia type 2
p.Val177= Multiple submitters episodic ataxia type 2
p.Val1806= Multiple submitters episodic ataxia type 2
p.Val214= Multiple submitters developmental and epileptic encephalopathy, 42
p.Val565= Multiple submitters episodic ataxia type 2
p.Val603= Multiple submitters developmental and epileptic encephalopathy, 42
p.Val625= Multiple submitters developmental and epileptic encephalopathy, 42
p.Val933= Multiple submitters episodic ataxia type 2
c.1082+13T>C Single submitter episodic ataxia type 2
c.1082+17C>T Single submitter episodic ataxia type 2
c.1082+19C>A Single submitter episodic ataxia type 2
c.1082+20C>T Single submitter episodic ataxia type 2
c.1082+300C>T Single submitter
c.1083-105_1083-104insAA Single submitter
c.1083-12A>G Single submitter episodic ataxia type 2
c.1083-20G>T Single submitter developmental and epileptic encephalopathy, 42
c.1083-5T>C Single submitter developmental and epileptic encephalopathy, 42
c.1198+14A>C Single submitter developmental and epileptic encephalopathy, 42
c.1198+15T>C Single submitter episodic ataxia type 2
c.1198+20_1198+22del Single submitter developmental and epileptic encephalopathy, 42
c.1199-12C>T Single submitter developmental and epileptic encephalopathy, 42
c.1199-17G>A Single submitter episodic ataxia type 2
c.1199-298A>G Single submitter
c.1255+11T>C Single submitter episodic ataxia type 2
c.1255+9T>C Single submitter developmental and epileptic encephalopathy, 42
c.1256-10A>G Single submitter developmental and epileptic encephalopathy, 42
c.1256-18A>G Single submitter episodic ataxia type 2
c.1256-19C>T Single submitter episodic ataxia type 2
c.1256-47C>G Single submitter
c.1345+12C>T Single submitter episodic ataxia type 2
c.1345+14T>C Single submitter developmental and epileptic encephalopathy, 42
c.1345+15C>T Single submitter episodic ataxia type 2
c.1346-11T>C Single submitter episodic ataxia type 2
c.1346-17dup Single submitter developmental and epileptic encephalopathy, 42
c.1346-3C>T Single submitter
c.1346-4G>A Single submitter developmental and epileptic encephalopathy, 42
c.1346-7C>A Single submitter episodic ataxia type 2
c.1346-7C>G Single submitter episodic ataxia type 2
c.1346-8C>T Single submitter episodic ataxia type 2
c.1555+15G>A Single submitter episodic ataxia type 2
c.1555+17C>T Single submitter developmental and epileptic encephalopathy, 42
c.1555+19C>T Single submitter developmental and epileptic encephalopathy, 42
c.1555+24C>T Single submitter
c.1555+46C>T Single submitter
c.1556-11C>A Single submitter developmental and epileptic encephalopathy, 42
c.1556-12_1556-10del Single submitter episodic ataxia type 2
c.1556-12T>C Single submitter developmental and epileptic encephalopathy, 42
c.1556-16T>G Single submitter
c.1556-4C>G Single submitter episodic ataxia type 2
c.1556-4C>T Single submitter developmental and epileptic encephalopathy, 42
c.1556-5T>C Single submitter episodic ataxia type 2
c.1556-6T>C Single submitter developmental and epileptic encephalopathy, 42
c.1556-9C>T Single submitter episodic ataxia type 2
c.1668+10C>T Single submitter episodic ataxia type 2
c.1668+11T>C Single submitter developmental and epileptic encephalopathy, 42
c.1668+12T>G Single submitter developmental and epileptic encephalopathy, 42
c.1668+13_1668+18del Single submitter developmental and epileptic encephalopathy, 42
c.1668+13G>C Single submitter developmental and epileptic encephalopathy, 42
c.1668+19A>G Single submitter developmental and epileptic encephalopathy, 42
c.1668+20A>G Single submitter episodic ataxia type 2
c.1669-18C>T Single submitter episodic ataxia type 2
c.1669-7G>A Single submitter episodic ataxia type 2
c.1669-7G>C Single submitter episodic ataxia type 2
c.1781+17C>T Single submitter episodic ataxia type 2
c.1781+7C>T Single submitter developmental and epileptic encephalopathy, 42

Uncertain significance 1801

Showing the top 300 by review status; the full set is in the sitemap.

c.1255+3A>G Multiple submitters episodic ataxia type 2
c.1345+4A>G Multiple submitters developmental and epileptic encephalopathy, 42
c.1555+3_1555+6del Multiple submitters developmental and epileptic encephalopathy, 42
c.1555+5G>A Multiple submitters developmental and epileptic encephalopathy, 42
c.1668+3A>G Multiple submitters episodic ataxia type 2
c.1781+3A>C Multiple submitters episodic ataxia type 2
c.1782-5G>A Multiple submitters developmental and epileptic encephalopathy, 42
c.2104+6C>T Multiple submitters developmental and epileptic encephalopathy, 42
c.294-4A>G Multiple submitters Inborn genetic diseases
c.399+4A>G Multiple submitters developmental and epileptic encephalopathy, 42
c.4089+3G>A Multiple submitters developmental and epileptic encephalopathy, 42
c.5133+5G>A Multiple submitters episodic ataxia type 2
c.6189+4C>A Multiple submitters episodic ataxia type 2
c.6304-13G>A Multiple submitters episodic ataxia type 2
c.6304-3C>T Multiple submitters episodic ataxia type 2
c.6309_6311del Multiple submitters developmental and epileptic encephalopathy, 42
c.631+4C>T Multiple submitters developmental and epileptic encephalopathy, 42
c.6526+6C>T Multiple submitters developmental and epileptic encephalopathy, 42
c.6780+3G>C Multiple submitters developmental and epileptic encephalopathy, 42
p.2238AR[3] Multiple submitters developmental and epileptic encephalopathy, 42
p.990EG[1] Multiple submitters episodic ataxia type 2
p.Ala1009Thr Multiple submitters episodic ataxia type 2 ⚠
p.Ala1088Thr Multiple submitters episodic ataxia type 2 ⚠
p.Ala10Val Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Ala1111Ser Multiple submitters episodic ataxia type 2 ⚠
p.Ala1119Pro Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Ala1160Gly Multiple submitters episodic ataxia type 2 ⚠
p.Ala1160Thr Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Ala1160Val Multiple submitters episodic ataxia type 2 ⚠
p.Ala1173Gly Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Ala1261Thr Multiple submitters Paroxysmal central nervous system disorders ⚠
p.Ala1262Thr Multiple submitters episodic ataxia type 2 ⚠
p.Ala1364Asp Multiple submitters episodic ataxia type 2 ⚠
p.Ala1391_Val1392insIlePhe Multiple submitters developmental and epileptic encephalopathy, 42
p.Ala1471Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1537Thr Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Ala1540Thr Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Ala1576Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala1596Thr Multiple submitters episodic ataxia type 2 ⚠
p.Ala1699Thr Multiple submitters episodic ataxia type 2 ⚠
p.Ala1841Thr Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Ala1885Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala1885Thr Multiple submitters episodic ataxia type 2 ⚠
p.Ala1957Thr Multiple submitters episodic ataxia type 2 ⚠
p.Ala1975Asp Multiple submitters episodic ataxia type 2 ⚠
p.Ala19Thr Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Ala2019Ser Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Ala2091Thr Multiple submitters episodic ataxia type 2 ⚠
p.Ala2375Asp Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
p.Ala2382Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala2436Thr Multiple submitters ⚠
p.Ala307Val Multiple submitters ⚠
p.Ala405Thr Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Ala717Thr Multiple submitters episodic ataxia type 2 ⚠
p.Ala719Thr Multiple submitters episodic ataxia type 2 ⚠
p.Ala753Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala753Val Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Ala754del Multiple submitters developmental and epileptic encephalopathy, 42
p.Ala770Thr Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Ala841Ser Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Ala862Thr Multiple submitters ⚠
p.Ala868Thr Multiple submitters episodic ataxia type 2 ⚠
p.Ala868Val Multiple submitters episodic ataxia type 2 ⚠
p.Ala925Val Multiple submitters episodic ataxia type 2 ⚠
p.Ala951Thr Multiple submitters episodic ataxia type 2 ⚠
p.Ala951Val Multiple submitters episodic ataxia type 2 ⚠
p.Ala977Val Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg1001Leu Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg1004del Multiple submitters episodic ataxia type 2
p.Arg1018Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg1024Gln Multiple submitters episodic ataxia type 2 ⚠
p.Arg1024Pro Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg1025_His1026insGluAspLysGluArgArg Multiple submitters developmental and epileptic encephalopathy, 42
p.Arg1027Gly Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg1027Trp Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg1029Gly Multiple submitters episodic ataxia type 2 ⚠
p.Arg1048Gln Multiple submitters episodic ataxia type 2 ⚠
p.Arg1048Trp Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg1209Cys Multiple submitters episodic ataxia type 2 ⚠
p.Arg1209Ser Multiple submitters episodic ataxia type 2 ⚠
p.Arg1233Cys Multiple submitters episodic ataxia type 2 ⚠
p.Arg1243His Multiple submitters Inborn genetic diseases ⚠
p.Arg1272Gln Multiple submitters episodic ataxia type 2 ⚠
p.Arg132Trp Multiple submitters episodic ataxia type 2 ⚠
p.Arg1433Gln Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg1433Trp Multiple submitters episodic ataxia type 2 ⚠
p.Arg1483His Multiple submitters ⚠
p.Arg1545Gln Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg1557His Multiple submitters spinocerebellar ataxia type 6 ⚠
p.Arg1598Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg1626His Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg1739Gln Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg1750Gln Multiple submitters episodic ataxia type 2 ⚠
p.Arg1846Gln Multiple submitters episodic ataxia type 2
p.Arg1846Leu Multiple submitters episodic ataxia type 2
p.Arg1872Thr Multiple submitters episodic ataxia type 2
p.Arg1879Trp Multiple submitters episodic ataxia type 2 ⚠
p.Arg1901His Multiple submitters ⚠
p.Arg1977His Multiple submitters episodic ataxia type 2 ⚠
p.Arg1982Trp Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg198Gly Multiple submitters ⚠
p.Arg201Gln Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg201Trp Multiple submitters episodic ataxia type 2 ⚠
p.Arg2102Lys Multiple submitters episodic ataxia type 2 ⚠
p.Arg2106Leu Multiple submitters episodic ataxia type 2 ⚠
p.Arg2108Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg2108His Multiple submitters episodic ataxia type 2 ⚠
p.Arg2123Cys Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg2123His Multiple submitters episodic ataxia type 2 ⚠
p.Arg2142Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg2150Gly Multiple submitters episodic ataxia type 2 ⚠
p.Arg2155_Arg2165del Multiple submitters episodic ataxia type 2
p.Arg2158Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg2169His Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg2199_Gly2200insAspGlnGluArg Multiple submitters episodic ataxia type 2
p.Arg2199Trp Multiple submitters episodic ataxia type 2 ⚠
p.Arg2205Gln Multiple submitters episodic ataxia type 2 ⚠
p.Arg2208_Gln2209dup Multiple submitters episodic ataxia type 2
p.Arg2208Gly Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg2237Gln Multiple submitters episodic ataxia type 2 ⚠
p.Arg2237Trp Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg2247Cys Multiple submitters episodic ataxia type 2 ⚠
p.Arg2253Leu Multiple submitters episodic ataxia type 2 ⚠
p.Arg2253Ter Multiple submitters episodic ataxia type 2
p.Arg2259Gln Multiple submitters CACNA1A-related disorder ⚠
p.Arg2259Trp Multiple submitters episodic ataxia type 2 ⚠
p.Arg2450Cys Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg2467Gln Multiple submitters episodic ataxia type 2 ⚠
p.Arg2467Pro Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg2486His Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg369Gln Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg369Trp Multiple submitters episodic ataxia type 2 ⚠
p.Arg374Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg374Trp Multiple submitters episodic ataxia type 2 ⚠
p.Arg381Gln Multiple submitters episodic ataxia type 2 ⚠
p.Arg3Cys Multiple submitters episodic ataxia type 2 ⚠
p.Arg421Trp Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg473Lys Multiple submitters episodic ataxia type 2 ⚠
p.Arg476Cys Multiple submitters episodic ataxia type 2 ⚠
p.Arg480His Multiple submitters episodic ataxia type 2 ⚠
p.Arg790Gln Multiple submitters episodic ataxia type 2 ⚠
p.Arg809Gln Multiple submitters episodic ataxia type 2 ⚠
p.Arg812Gln Multiple submitters episodic ataxia type 2 ⚠
p.Arg812Leu Multiple submitters episodic ataxia type 2 ⚠
p.Arg831Pro Multiple submitters episodic ataxia type 2 ⚠
p.Arg859Gly Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg869Gln Multiple submitters episodic ataxia type 2 ⚠
p.Arg869Pro Multiple submitters hereditary cerebellar ataxia ⚠
p.Arg880Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg940Gly Multiple submitters episodic ataxia type 2 ⚠
p.Arg943Cys Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg948Cys Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg956Gln Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg956Pro Multiple submitters episodic ataxia type 2 ⚠
p.Arg962Cys Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg975Gln Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Arg975Leu Multiple submitters episodic ataxia type 2 ⚠
p.Arg976_Ala977insGluArgArg Multiple submitters developmental and epileptic encephalopathy, 42
p.Arg978Trp Multiple submitters episodic ataxia type 2 ⚠
p.Arg980His Multiple submitters episodic ataxia type 2 ⚠
p.Arg987Trp Multiple submitters episodic ataxia type 2 ⚠
p.Asn1043Lys Multiple submitters episodic ataxia type 2 ⚠
p.Asn1071Lys Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Asn1126Ser Multiple submitters episodic ataxia type 2 ⚠
p.Asn1190Thr Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Asn1274Asp Multiple submitters episodic ataxia type 2 ⚠
p.Asn1274del Multiple submitters developmental and epileptic encephalopathy, 42
p.Asn2061His Multiple submitters episodic ataxia type 2 ⚠
p.Asn2148Lys Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Asn333Asp Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Asn390Asp Multiple submitters ⚠
p.Asn390Lys Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Asn390Ser Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Asn715Ser Multiple submitters episodic ataxia type 2 ⚠
p.Asn830Lys Multiple submitters episodic ataxia type 2 ⚠
p.Asn834del Multiple submitters CACNA1A-related disorder
p.Asp1016Asn Multiple submitters episodic ataxia type 2 ⚠
p.Asp1064Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp123Val Multiple submitters episodic ataxia type 2 ⚠
p.Asp124Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp1432Asn Multiple submitters episodic ataxia type 2 ⚠
p.Asp1443Asn Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Asp1627Asn Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Asp1722Gly Multiple submitters episodic ataxia type 2 ⚠
p.Asp1728Asn Multiple submitters episodic ataxia type 2 ⚠
p.Asp1919Asn Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Asp1939Glu Multiple submitters episodic ataxia type 2 ⚠
p.Asp2073Asn Multiple submitters episodic ataxia type 2 ⚠
p.Asp2136His Multiple submitters ⚠
p.Asp2137Asn Multiple submitters episodic ataxia type 2 ⚠
p.Asp2172Asn Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Asp2172Tyr Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Asp2189Asn Multiple submitters migraine, familial hemiplegic, 1 ⚠
p.Asp2204Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp2352Gly Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Asp2414Asn Multiple submitters CACNA1A-related disorder ⚠
p.Asp262Ala Multiple submitters Inborn genetic diseases ⚠
p.Asp329Asn Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Asp329His Multiple submitters episodic ataxia type 2 ⚠
p.Asp407Ala Multiple submitters episodic ataxia type 2 ⚠
p.Asp675Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp846Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp997Asn Multiple submitters Epileptic encephalopathy ⚠
p.Cys1612Trp Multiple submitters Inborn genetic diseases ⚠
p.Gln1057Pro Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gln1117Lys Multiple submitters Inborn genetic diseases ⚠
p.Gln1686Arg Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gln1935Lys Multiple submitters episodic ataxia type 2 ⚠
p.Gln2153Arg Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gln2209His Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gln2230Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln2260Ter Multiple submitters developmental and epileptic encephalopathy, 42
p.Gln54His Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gln633Arg Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gln763Lys Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gln784His Multiple submitters episodic ataxia type 2 ⚠
p.Gln861_Asp866del Multiple submitters CACNA1A-related disorder
p.Glu1014Asp Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Glu1199Gly Multiple submitters ⚠
p.Glu1723Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1734Lys Multiple submitters episodic ataxia type 2 ⚠
p.Glu1830Lys Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Glu188Gln Multiple submitters episodic ataxia type 2 ⚠
p.Glu1921Lys Multiple submitters episodic ataxia type 2 ⚠
p.Glu1978Lys Multiple submitters episodic ataxia type 2 ⚠
p.Glu2251Gly Multiple submitters episodic ataxia type 2 ⚠
p.Glu2428Lys Multiple submitters ⚠
p.Glu406Lys Multiple submitters episodic ataxia type 2 ⚠
p.Glu436Lys Multiple submitters episodic ataxia type 2 ⚠
p.Glu437Ala Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Glu512Gln Multiple submitters episodic ataxia type 2 ⚠
p.Glu564Lys Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Glu671Lys Multiple submitters episodic ataxia type 2 ⚠
p.Glu801Lys Multiple submitters episodic ataxia type 2 ⚠
p.Glu829Asp Multiple submitters episodic ataxia type 2 ⚠
p.Glu855Ala Multiple submitters episodic ataxia type 2 ⚠
p.Glu890Gly Multiple submitters episodic ataxia type 2 ⚠
p.Glu919Lys Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Glu954Lys Multiple submitters episodic ataxia type 2 ⚠
p.Glu966Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu981Lys Multiple submitters episodic ataxia type 2 ⚠
p.Glu992Gln Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gly1034Asp Multiple submitters episodic ataxia type 2 ⚠
p.Gly1083Arg Multiple submitters ⚠
p.Gly1083Asp Multiple submitters episodic ataxia type 2 ⚠
p.Gly1151Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly1213Cys Multiple submitters episodic ataxia type 2 ⚠
p.Gly1305Val Multiple submitters Inborn genetic diseases ⚠
p.Gly1674Val Multiple submitters ⚠
p.Gly1845Ser Multiple submitters episodic ataxia type 2
p.Gly1864Ser Multiple submitters episodic ataxia type 2
p.Gly1911Arg Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gly1912Arg Multiple submitters episodic ataxia type 2 ⚠
p.Gly1999Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly2000Ala Multiple submitters episodic ataxia type 2 ⚠
p.Gly2002Ala Multiple submitters developmental and epileptic encephalopathy ⚠
p.Gly2074Ser Multiple submitters episodic ataxia type 2 ⚠
p.Gly2088Ala Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gly208Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly2109Glu Multiple submitters episodic ataxia type 2 ⚠
p.Gly2176Val Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gly2178Arg Multiple submitters CACNA1A-related disorder ⚠
p.Gly2188Arg Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gly2252Cys Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gly2252Ser Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gly22Glu Multiple submitters episodic ataxia type 2 ⚠
p.Gly2412Val Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gly2481Arg Multiple submitters spinocerebellar ataxia type 6 ⚠
p.Gly284Val Multiple submitters Inborn genetic diseases ⚠
p.Gly391Arg Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gly411Arg Multiple submitters episodic ataxia type 2 ⚠
p.Gly411Trp Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gly686Ser Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gly895Arg Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gly898Arg Multiple submitters episodic ataxia type 2 ⚠
p.Gly937Trp Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gly945Arg Multiple submitters episodic ataxia type 2 ⚠
p.Gly953Arg Multiple submitters episodic ataxia type 2 ⚠
p.Gly965Arg Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.Gly968Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly991Val Multiple submitters episodic ataxia type 2 ⚠
p.Gly995_Pro996dup Multiple submitters episodic ataxia type 2
p.Gly998Glu Multiple submitters episodic ataxia type 2 ⚠
p.His1007Leu Multiple submitters episodic ataxia type 2 ⚠
p.His1165Asp Multiple submitters episodic ataxia type 2 ⚠
p.His1404Tyr Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.His1546Tyr Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.His1827Asp Multiple submitters episodic ataxia type 2 ⚠
p.His1871Tyr Multiple submitters episodic ataxia type 2
p.His2020Tyr Multiple submitters episodic ataxia type 2 ⚠
p.His2151_Arg2154del Multiple submitters developmental and epileptic encephalopathy, 42
p.His2210Arg Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.His2211Gln Multiple submitters episodic ataxia type 2 ⚠
p.His2214_His2219del Multiple submitters Inborn genetic diseases
p.His2214Arg Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.His2215Pro Multiple submitters spinocerebellar ataxia type 6 ⚠
p.His2216Pro Multiple submitters migraine, familial hemiplegic, 1 ⚠
p.His2216Tyr Multiple submitters developmental and epileptic encephalopathy, 42 ⚠
p.His2217_His2219dup Multiple submitters episodic ataxia type 2
p.His2218Pro Multiple submitters developmental and epileptic encephalopathy, 42 ⚠