KCNA1 — 728 ClinVar variants

All ClinVar germline KCNA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 325 flagged for review →

25 Pathogenic · 3 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 20 Conflicting · 38 Benign · 21 Benign/Likely benign · 161 Likely benign · 441 Uncertain significance

Full KCNA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 325

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 agree, ClinVar conflicts 10

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

KCNA1 p.Ala395Ser Conflicting Single submitter
episodic ataxia type 1
KCNA1 p.Ala401Thr Conflicting Single submitter
episodic ataxia type 1
KCNA1 p.Ala401Val Conflicting Single submitter
Inborn genetic diseases
KCNA1 p.Arg204His Conflicting Single submitter
episodic ataxia type 1
KCNA1 p.Arg295His Conflicting Single submitter
hereditary ataxia
KCNA1 p.Arg307His Conflicting Single submitter
KCNA1 p.Gln20His Conflicting Single submitter
episodic ataxia type 1
KCNA1 p.Gly376Arg Conflicting Single submitter
episodic ataxia type 1
KCNA1 p.Ile211Val Conflicting Single submitter
episodic ataxia type 1
KCNA1 p.Phe249Leu Conflicting Single submitter
episodic ataxia type 1

Predictors lean, ClinVar uncertain 262

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 262

KCNA1 p.Ala15Ser Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Ala166Pro Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Ala466Asp Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Arg142His Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Arg239Pro Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Arg26Trp Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Arg298Ser Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Arg443His Uncertain significance Multiple submitters
Inborn genetic diseases
KCNA1 p.Arg469Lys Uncertain significance Multiple submitters
Inborn genetic diseases
KCNA1 p.Arg86Pro Uncertain significance Multiple submitters
Inborn genetic diseases
KCNA1 p.Asn213Lys Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Asn477Ser Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Asn60Ser Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Asn8Lys Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Asp21Asn Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Asp32His Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Asp32Tyr Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Asp440Glu Uncertain significance Multiple submitters
Inborn genetic diseases
KCNA1 p.Asp460Tyr Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Gln20Arg Uncertain significance Multiple submitters
Inborn genetic diseases
KCNA1 p.Gln483His Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Gln97Lys Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Glu11Asp Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Glu121Lys Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Glu161Lys Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Glu422Asp Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Glu49Gln Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Glu79Ala Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Glu79Gln Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Glu7Lys Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Gly135Ala Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Gly200Ala Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Gly311Cys Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Gly384Arg Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Gly6Arg Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.His18Pro Uncertain significance Multiple submitters
Inborn genetic diseases
KCNA1 p.His203Tyr Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.His467Arg Uncertain significance Multiple submitters
Inborn genetic diseases
KCNA1 p.Ile137Val Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Ile223Val Uncertain significance Multiple submitters
Inborn genetic diseases
KCNA1 p.Ile230Val Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Ile267Val Uncertain significance Multiple submitters
Inborn genetic diseases
KCNA1 p.Lys118Arg Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Lys246Glu Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Met449Ile Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Met449Thr Uncertain significance Multiple submitters
Inborn genetic diseases
KCNA1 p.Met461Thr Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Met461Val Uncertain significance Multiple submitters
Inborn genetic diseases
KCNA1 p.Met4Ile Uncertain significance Multiple submitters
Inborn genetic diseases
KCNA1 p.Met70Val Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Pro25Leu Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Pro75His Uncertain significance Multiple submitters
Inborn genetic diseases
KCNA1 p.Pro87Arg Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Ser13Leu Uncertain significance Multiple submitters
KCNA1 p.Ser214Phe Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Ser306Cys Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Ser306Phe Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Ser445Gly Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Ser489Asn Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Trp154Gly Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Tyr24His Uncertain significance Multiple submitters
Inborn genetic diseases
KCNA1 p.Tyr265His Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Tyr345Cys Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Val430Leu Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Val486Ile Uncertain significance Multiple submitters
Inborn genetic diseases
KCNA1 p.Val9Met Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Ala12Pro Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Ala12Ser Uncertain significance Single submitter
Inborn genetic diseases
KCNA1 p.Ala12Val Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Ala14Ser Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Ala15Thr Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Ala15Val Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Ala170Thr Uncertain significance Single submitter
KCNA1 p.Ala242Ser Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Ala285Pro Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Ala289Thr Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Ala28Gly Uncertain significance Single submitter
KCNA1 p.Ala349Glu Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Ala352Pro Uncertain significance Single submitter
KCNA1 p.Ala366Val Uncertain significance Single submitter
Inborn genetic diseases
KCNA1 p.Ala393Val Uncertain significance Single submitter
KCNA1 p.Ala425Thr Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Ala436Pro Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Ala481Val Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Arg101Leu Uncertain significance Single submitter
KCNA1 p.Arg104Ser Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Arg151Pro Uncertain significance Single submitter
KCNA1 p.Arg204Gly Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Arg298Gly Uncertain significance Single submitter
KCNA1 p.Arg469Gly Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Arg474Ser Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Arg47Pro Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Arg47Ser Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Arg69Pro Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Arg84Gly Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Arg84Ser Uncertain significance Single submitter
Inborn genetic diseases
KCNA1 p.Asn213Tyr Uncertain significance Single submitter
Inborn genetic diseases
KCNA1 p.Asn215Ser Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Asn252Ile Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Asn252Ser Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Asn252Thr Uncertain significance Single submitter
KCNA1 p.Asn279Lys Uncertain significance Single submitter
KCNA1 p.Asn410Thr Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Asn472Ser Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Asp10Glu Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Asp195Glu Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Asp206Tyr Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Asp248His Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Asp258Asn Uncertain significance Single submitter
KCNA1 p.Asp29Tyr Uncertain significance Single submitter
KCNA1 p.Asp377Asn Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Asp377Gly Uncertain significance Single submitter
KCNA1 p.Asp460Gly Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Asp74Asn Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Asp74Glu Uncertain significance Single submitter
KCNA1 p.Asp74Tyr Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Asp90Asn Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Cys185Arg Uncertain significance Single submitter
KCNA1 p.Cys243Gly Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Cys35Arg Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Cys485Tyr Uncertain significance Single submitter
Inborn genetic diseases
KCNA1 p.Gln20Lys Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Gln276Arg Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Gln426Arg Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Glu116Gly Uncertain significance Single submitter
KCNA1 p.Glu125Asp Uncertain significance Single submitter
KCNA1 p.Glu128Gly Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Glu134Gln Uncertain significance Single submitter
KCNA1 p.Glu134Gly Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Glu139Gly Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Glu146Gln Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Glu146Lys Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Glu187Gln Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Glu187Gly Uncertain significance Single submitter
KCNA1 p.Glu187Lys Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Glu275Asp Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Glu275Gln Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Glu325Lys Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Glu420Asp Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Glu456Gln Uncertain significance Single submitter
KCNA1 p.Glu456Lys Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Glu458Gly Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Glu458Lys Uncertain significance Single submitter
KCNA1 p.Gly17Arg Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Gly200Arg Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Gly316Arg Uncertain significance Single submitter
KCNA1 p.Gly374Ala Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Gly389Asp Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Gly389Val Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Gly64Asp Uncertain significance Single submitter

Predictors split 53

The independent predictors disagree with each other — read with care.

KCNA1 p.Arg142Ser Uncertain significance Multiple submitters
Inborn genetic diseases
KCNA1 p.Asp219Glu Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Glu128Val Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Glu141Lys Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Glu350Lys Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Ile137Thr Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Lys118Glu Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Lys53Asn Uncertain significance Multiple submitters
Inborn genetic diseases
KCNA1 p.Phe234Leu Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Tyr159His Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Val106Ala Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Val430Phe Uncertain significance Multiple submitters
episodic ataxia type 1
KCNA1 p.Ala242Val Uncertain significance Single submitter
KCNA1 p.Arg443Cys Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Arg71His Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Asn215Ile Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Asp21Tyr Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Cys35Tyr Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Cys478Tyr Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Cys485Ser Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Gln51Leu Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Glu124Lys Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Glu139Lys Uncertain significance Single submitter
KCNA1 p.Glu148Ala Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Glu350Gln Uncertain significance Single submitter
Inborn genetic diseases
KCNA1 p.Glu420Gln Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Glu423Gln Uncertain significance Single submitter
KCNA1 p.Glu453Gly Uncertain significance Single submitter
KCNA1 p.His33Tyr Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Ile230Thr Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Ile253Phe Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Ile262Val Uncertain significance Single submitter
KCNA1 p.Leu329Phe Likely pathogenic Single submitter
episodic ataxia type 1
KCNA1 p.Leu46Met Conflicting Single submitter
Inborn genetic diseases
KCNA1 p.Lys138Gln Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Lys193Glu Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Met323Val Uncertain significance Single submitter
KCNA1 p.Met378Val Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Met455Lys Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Met455Thr Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Pro143Ser Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Ser162Thr Uncertain significance Single submitter
Inborn genetic diseases
KCNA1 p.Ser245Gly Uncertain significance Single submitter
KCNA1 p.Ser464Gly Uncertain significance Single submitter
KCNA1 p.Thr2Arg Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Thr2Lys Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Thr493Ala Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Thr493Ile Uncertain significance Single submitter
Inborn genetic diseases
KCNA1 p.Thr493Ser Uncertain significance Single submitter
KCNA1 p.Val172Ala Uncertain significance Single submitter
KCNA1 p.Val174Ile Conflicting Single submitter
episodic ataxia type 1
KCNA1 p.Val337Ile Uncertain significance Single submitter
episodic ataxia type 1
KCNA1 p.Val486Phe Uncertain significance Single submitter
episodic ataxia type 1

All KCNA1 variants

Pathogenic 25

p.Arg417Ter Multiple submitters episodic ataxia type 1
p.Glu283Lys Multiple submitters episodic ataxia type 1
p.Pro405Leu Multiple submitters episodic ataxia type 1
p.Thr226Arg Multiple submitters episodic ataxia type 1
p.Thr226Met Multiple submitters episodic ataxia type 1
p.Val174Phe Multiple submitters Inborn genetic diseases
p.Val404Ile Multiple submitters KCNA1-related disorder
p.Ala242Pro Single submitter
p.Ala261Thr Single submitter
p.Gln284Ter Single submitter episodic ataxia type 1
p.Gly311Asp Single submitter
p.Gly376Ser Single submitter episodic ataxia type 1
p.Phe249Ile Single submitter episodic ataxia type 1
p.Pro403Ser Single submitter episodic ataxia type 1
p.Thr226Ala Single submitter episodic ataxia type 1
p.Thr226Lys Single submitter
p.Val368Leu Single submitter episodic ataxia type 1
p.Arg239Ser No assertion criteria episodic ataxia type 1
p.Asn255Asp No assertion criteria Myokymia 1 with hypomagnesemia
p.Glu325Asp No assertion criteria episodic ataxia type 1
p.Ile177Asn No assertion criteria episodic ataxia type 1
p.Ile314Asn No assertion criteria episodic ataxia type 1
p.Phe184Cys No assertion criteria episodic ataxia type 1
p.Pro244His No assertion criteria Myokymia 1
p.Val408Ala No assertion criteria episodic ataxia type 1

Pathogenic/Likely pathogenic 3

p.Gly396Val Multiple submitters episodic kinesigenic dyskinesia
p.Ile262Thr Multiple submitters episodic ataxia type 1
p.Phe250del Multiple submitters Inborn genetic diseases

Likely pathogenic 19

p.Ala166Thr Multiple submitters episodic ataxia type 1
p.Ile314Thr Multiple submitters Inborn genetic diseases
p.Leu305Phe Multiple submitters episodic ataxia type 1
p.Pro405Ala Multiple submitters Inborn genetic diseases
p.Arg298Thr Single submitter
p.Arg417fs Single submitter epilepsy
p.Glu325Gly Single submitter episodic ataxia type 1
p.Gly396Arg Single submitter generalized epilepsy-paroxysmal dyskinesia syndrome
p.Leu288Gln Single submitter episodic ataxia type 1
p.Leu329Ile Single submitter episodic ataxia type 1
p.Leu329Phe Single submitter episodic ataxia type 1 ⚠
p.Phe331Ser Single submitter episodic ataxia type 1
p.Phe414Ser Single submitter episodic ataxia type 1
p.Pro244Ser Single submitter episodic ataxia type 1
p.Pro405His Single submitter Epileptic encephalopathy
p.Ser322Arg Single submitter episodic ataxia type 1
p.Ser409Cys Single submitter KCNA1-related disorder
p.Ser409Tyr Single submitter episodic ataxia type 1
p.Thr371Ile Single submitter episodic ataxia type 1

Conflicting classifications of pathogenicity 20

c.*1469G>A Single submitter episodic ataxia type 1
c.*3588T>C Single submitter episodic ataxia type 1
p.Ala362= Single submitter episodic ataxia type 1
p.Ala395Ser Single submitter episodic ataxia type 1 ⚠
p.Ala401Thr Single submitter episodic ataxia type 1 ⚠
p.Ala401Val Single submitter Inborn genetic diseases ⚠
p.Arg204His Single submitter episodic ataxia type 1 ⚠
p.Arg295His Single submitter hereditary ataxia ⚠
p.Arg307His Single submitter ⚠
p.Asn107= Single submitter episodic ataxia type 1
p.Gln20His Single submitter episodic ataxia type 1 ⚠
p.Gly282= Single submitter episodic ataxia type 1
p.Gly376Arg Single submitter episodic ataxia type 1 ⚠
p.Ile211Val Single submitter episodic ataxia type 1 ⚠
p.Leu46Met Single submitter Inborn genetic diseases ⚠
p.Lys488= Single submitter episodic ataxia type 1
p.Phe249Leu Single submitter episodic ataxia type 1 ⚠
p.Phe48= Single submitter episodic ataxia type 1
p.Ser437= Single submitter episodic ataxia type 1
p.Val174Ile Single submitter episodic ataxia type 1 ⚠

Benign 38

c.-110G>A Multiple submitters episodic ataxia type 1
c.-638C>T Multiple submitters episodic ataxia type 1
c.*1524A>G Multiple submitters episodic ataxia type 1
c.*1681T>C Multiple submitters episodic ataxia type 1
c.*1927A>T Multiple submitters episodic ataxia type 1
c.*2333G>A Multiple submitters episodic ataxia type 1
c.*3062T>C Multiple submitters episodic ataxia type 1
c.*406C>T Multiple submitters episodic ataxia type 1
c.*4439C>T Multiple submitters episodic ataxia type 1
c.*5141G>A Multiple submitters episodic ataxia type 1
c.*5191G>A Multiple submitters episodic ataxia type 1
c.*786G>A Multiple submitters episodic ataxia type 1
c.*9G>A Multiple submitters episodic ataxia type 1
p.Cys228= Multiple submitters episodic ataxia type 1
p.Ser432= Multiple submitters episodic ataxia type 1
p.Thr480= Multiple submitters episodic ataxia type 1
c.-428C>T Single submitter episodic ataxia type 1
c.-731C>G Single submitter episodic ataxia type 1
c.-839C>T Single submitter episodic ataxia type 1
c.-959C>T Single submitter episodic ataxia type 1
c.*127A>C Single submitter episodic ataxia type 1
c.*1577A>T Single submitter episodic ataxia type 1
c.*1892C>T Single submitter episodic ataxia type 1
c.*2080G>A Single submitter episodic ataxia type 1
c.*2121T>C Single submitter episodic ataxia type 1
c.*2313C>T Single submitter episodic ataxia type 1
c.*2596A>T Single submitter episodic ataxia type 1
c.*2727C>T Single submitter episodic ataxia type 1
c.*2734G>A Single submitter episodic ataxia type 1
c.*3840G>A Single submitter episodic ataxia type 1
c.*4234A>G Single submitter episodic ataxia type 1
c.*4591T>G Single submitter episodic ataxia type 1
c.*4663G>A Single submitter episodic ataxia type 1
c.*517T>C Single submitter episodic ataxia type 1
c.*5209C>T Single submitter episodic ataxia type 1
c.*592C>A Single submitter episodic ataxia type 1
c.*947C>T Single submitter episodic ataxia type 1
p.Met1Val Single submitter episodic ataxia type 1

Benign/Likely benign 21

c.-1043C>T Multiple submitters episodic ataxia type 1
c.-134G>T Multiple submitters episodic ataxia type 1
c.-235C>A Multiple submitters episodic ataxia type 1
c.*1522C>G Multiple submitters episodic ataxia type 1
c.*189G>A Multiple submitters episodic ataxia type 1
c.*2005G>A Multiple submitters episodic ataxia type 1
c.*2123A>G Multiple submitters episodic ataxia type 1
c.*2174C>T Multiple submitters episodic ataxia type 1
c.*2245C>G Multiple submitters episodic ataxia type 1
c.*228A>C Multiple submitters episodic ataxia type 1
c.*2308C>G Multiple submitters episodic ataxia type 1
c.*3724C>T Multiple submitters episodic ataxia type 1
c.*4635G>C Multiple submitters episodic ataxia type 1
c.*5145T>C Multiple submitters episodic ataxia type 1
p.Arg131= Multiple submitters episodic ataxia type 1
p.Arg443Gly Multiple submitters Inborn genetic diseases
p.Glu79= Multiple submitters episodic ataxia type 1
p.Gly135= Multiple submitters episodic ataxia type 1
p.Leu144= Multiple submitters episodic ataxia type 1
p.Thr218= Multiple submitters episodic ataxia type 1
p.Tyr375= Multiple submitters episodic ataxia type 1

Likely benign 161

p.Ala14= Multiple submitters episodic ataxia type 1
p.Ala261= Multiple submitters episodic ataxia type 1
p.Ala349= Multiple submitters episodic ataxia type 1
p.Asn252= Multiple submitters episodic ataxia type 1
p.Asp194= Multiple submitters episodic ataxia type 1
p.Glu132= Multiple submitters episodic ataxia type 1
p.Gly6= Multiple submitters episodic ataxia type 1
p.Gly99= Multiple submitters episodic ataxia type 1
p.Leu156= Multiple submitters episodic ataxia type 1
p.Leu315= Multiple submitters episodic ataxia type 1
p.Leu339= Multiple submitters episodic ataxia type 1
p.Phe198= Multiple submitters episodic ataxia type 1
p.Phe234= Multiple submitters episodic ataxia type 1
p.Pro105= Multiple submitters episodic ataxia type 1
p.Pro165= Multiple submitters episodic ataxia type 1
p.Pro244= Multiple submitters episodic ataxia type 1
p.Ser287= Multiple submitters episodic ataxia type 1
p.Ser342= Multiple submitters episodic ataxia type 1
p.Ser354= Multiple submitters episodic ataxia type 1
p.Tyr80= Multiple submitters episodic ataxia type 1
c.-13C>A Single submitter
c.-18C>A Single submitter
c.*1242T>G Single submitter
c.*2488T>C Single submitter episodic ataxia type 1
p.Ala126= Single submitter episodic ataxia type 1
p.Ala170= Single submitter episodic ataxia type 1
p.Ala28= Single submitter episodic ataxia type 1
p.Ala289= Single submitter episodic ataxia type 1
p.Ala347= Single submitter episodic ataxia type 1
p.Ala366= Single submitter episodic ataxia type 1
p.Ala425= Single submitter episodic ataxia type 1
p.Ala476= Single submitter
p.Ala56= Single submitter episodic ataxia type 1
p.Arg295= Single submitter episodic ataxia type 1
p.Arg38= Single submitter episodic ataxia type 1
p.Arg417= Single submitter episodic ataxia type 1
p.Arg469= Single submitter episodic ataxia type 1
p.Arg474= Single submitter episodic ataxia type 1
p.Arg86= Single submitter episodic ataxia type 1
p.Asn215= Single submitter episodic ataxia type 1
p.Asn477= Single submitter episodic ataxia type 1
p.Asn487= Single submitter episodic ataxia type 1
p.Asn8= Single submitter episodic ataxia type 1
p.Asn85= Single submitter episodic ataxia type 1
p.Asp133= Single submitter episodic ataxia type 1
p.Asp258= Single submitter episodic ataxia type 1
p.Asp29= Single submitter episodic ataxia type 1
p.Asp29Glu Single submitter Inborn genetic diseases
p.Asp31= Single submitter episodic ataxia type 1
p.Asp438= Single submitter
p.Cys36= Single submitter episodic ataxia type 1
p.Cys485= Single submitter episodic ataxia type 1
p.Gln150= Single submitter episodic ataxia type 1
p.Gln20= Single submitter episodic ataxia type 1
p.Gln27Pro Single submitter Inborn genetic diseases
p.Glu140= Single submitter episodic ataxia type 1
p.Glu141= Single submitter episodic ataxia type 1
p.Glu146= Single submitter episodic ataxia type 1
p.Glu161= Single submitter episodic ataxia type 1
p.Glu283= Single submitter episodic ataxia type 1
p.Glu418= Single submitter
p.Glu420= Single submitter episodic ataxia type 1
p.Glu459= Single submitter episodic ataxia type 1
p.Gly200= Single submitter episodic ataxia type 1
p.Gly311= Single submitter episodic ataxia type 1
p.Gly316= Single submitter episodic ataxia type 1
p.Gly336= Single submitter episodic ataxia type 1
p.Gly374= Single submitter episodic ataxia type 1
p.Gly389= Single submitter episodic ataxia type 1
p.Gly421= Single submitter episodic ataxia type 1
p.His203= Single submitter episodic ataxia type 1
p.His308= Single submitter episodic ataxia type 1
p.His33= Single submitter episodic ataxia type 1
p.His416= Single submitter episodic ataxia type 1
p.His429= Single submitter episodic ataxia type 1
p.His467= Single submitter episodic ataxia type 1
p.Ile117= Single submitter episodic ataxia type 1
p.Ile137= Single submitter episodic ataxia type 1
p.Ile169= Single submitter episodic ataxia type 1
p.Ile205= Single submitter episodic ataxia type 1
p.Ile223= Single submitter episodic ataxia type 1
p.Ile229= Single submitter episodic ataxia type 1
p.Ile230= Single submitter episodic ataxia type 1
p.Ile257= Single submitter episodic ataxia type 1
p.Ile290= Single submitter episodic ataxia type 1
p.Ile294= Single submitter episodic ataxia type 1
p.Ile330= Single submitter episodic ataxia type 1
p.Ile335= Single submitter episodic ataxia type 1
p.Ile383= Single submitter episodic ataxia type 1
p.Ile394= Single submitter episodic ataxia type 1
p.Ile407= Single submitter episodic ataxia type 1
p.Ile457= Single submitter episodic ataxia type 1
p.Ile465= Single submitter episodic ataxia type 1
p.Leu155= Single submitter episodic ataxia type 1
p.Leu186= Single submitter episodic ataxia type 1
p.Leu192= Single submitter episodic ataxia type 1
p.Leu269= Single submitter episodic ataxia type 1
p.Leu296= Single submitter episodic ataxia type 1
p.Leu328= Single submitter episodic ataxia type 1
p.Leu333= Single submitter episodic ataxia type 1
p.Leu398= Single submitter episodic ataxia type 1
p.Leu402= Single submitter episodic ataxia type 1
p.Leu427= Single submitter episodic ataxia type 1
p.Leu428= Single submitter episodic ataxia type 1
p.Leu63= Single submitter episodic ataxia type 1
p.Leu93= Single submitter episodic ataxia type 1
p.Lys118= Single submitter episodic ataxia type 1
p.Lys129= Single submitter episodic ataxia type 1
p.Lys196= Single submitter episodic ataxia type 1
p.Lys451= Single submitter episodic ataxia type 1
p.Lys53= Single submitter episodic ataxia type 1
p.Phe136= Single submitter episodic ataxia type 1
p.Phe157= Single submitter episodic ataxia type 1
p.Phe222= Single submitter episodic ataxia type 1
p.Phe303= Single submitter episodic ataxia type 1
p.Phe363= Single submitter episodic ataxia type 1
p.Phe58= Single submitter episodic ataxia type 1
p.Phe89= Single submitter episodic ataxia type 1
p.Pro145= Single submitter episodic ataxia type 1
p.Pro16= Single submitter episodic ataxia type 1
p.Pro160= Single submitter episodic ataxia type 1
p.Pro19= Single submitter episodic ataxia type 1
p.Pro190= Single submitter episodic ataxia type 1
p.Pro360= Single submitter episodic ataxia type 1
p.Pro403= Single submitter episodic ataxia type 1
p.Ser114= Single submitter episodic ataxia type 1
p.Ser163= Single submitter episodic ataxia type 1
p.Ser173= Single submitter episodic ataxia type 1
p.Ser233= Single submitter episodic ataxia type 1
p.Ser309= Single submitter episodic ataxia type 1
p.Ser341= Single submitter episodic ataxia type 1
p.Ser369= Single submitter episodic ataxia type 1
p.Ser390= Single submitter episodic ataxia type 1
p.Ser409= Single submitter episodic ataxia type 1
p.Ser44= Single submitter episodic ataxia type 1
p.Ser446= Single submitter episodic ataxia type 1
p.Ser98= Single submitter episodic ataxia type 1
p.Thr188= Single submitter episodic ataxia type 1
p.Thr2= Single submitter episodic ataxia type 1
p.Thr201= Single submitter episodic ataxia type 1
p.Thr209= Single submitter
p.Thr247= Single submitter episodic ataxia type 1
p.Thr268= Single submitter episodic ataxia type 1
p.Thr271= Single submitter episodic ataxia type 1
p.Thr286= Single submitter episodic ataxia type 1
p.Thr371= Single submitter
p.Thr382= Single submitter episodic ataxia type 1
p.Thr475= Single submitter episodic ataxia type 1
p.Thr479= Single submitter episodic ataxia type 1
p.Thr54= Single submitter episodic ataxia type 1
p.Tyr120= Single submitter episodic ataxia type 1
p.Tyr149= Single submitter episodic ataxia type 1
p.Tyr379= Single submitter episodic ataxia type 1
p.Tyr468= Single submitter episodic ataxia type 1
p.Tyr72= Single submitter
p.Val108= Single submitter episodic ataxia type 1
p.Val168= Single submitter episodic ataxia type 1
p.Val172= Single submitter episodic ataxia type 1
p.Val408= Single submitter episodic ataxia type 1
p.Val486= Single submitter episodic ataxia type 1
p.Val9= Single submitter episodic ataxia type 1

Uncertain significance 441

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

c.*1504G>A Multiple submitters episodic ataxia type 1
c.*4739C>T Multiple submitters episodic ataxia type 1
p.Ala15Ser Multiple submitters episodic ataxia type 1 ⚠
p.Ala166Pro Multiple submitters episodic ataxia type 1 ⚠
p.Ala466Asp Multiple submitters episodic ataxia type 1 ⚠
p.Arg142His Multiple submitters episodic ataxia type 1 ⚠
p.Arg142Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg151Cys Multiple submitters episodic ataxia type 1
p.Arg239Pro Multiple submitters episodic ataxia type 1 ⚠
p.Arg26Trp Multiple submitters episodic ataxia type 1 ⚠
p.Arg298Ser Multiple submitters episodic ataxia type 1 ⚠
p.Arg443His Multiple submitters Inborn genetic diseases ⚠
p.Arg469Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg86Pro Multiple submitters Inborn genetic diseases ⚠
p.Asn213Lys Multiple submitters episodic ataxia type 1 ⚠
p.Asn477Ser Multiple submitters episodic ataxia type 1 ⚠
p.Asn60Ser Multiple submitters episodic ataxia type 1 ⚠
p.Asn8Lys Multiple submitters episodic ataxia type 1 ⚠
p.Asp219Glu Multiple submitters episodic ataxia type 1 ⚠
p.Asp21Asn Multiple submitters episodic ataxia type 1 ⚠
p.Asp32His Multiple submitters episodic ataxia type 1 ⚠
p.Asp32Tyr Multiple submitters episodic ataxia type 1 ⚠
p.Asp440Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp460Tyr Multiple submitters episodic ataxia type 1 ⚠
p.Gln20Arg Multiple submitters Inborn genetic diseases ⚠
p.Gln483His Multiple submitters episodic ataxia type 1 ⚠
p.Gln97Lys Multiple submitters episodic ataxia type 1 ⚠
p.Glu11Asp Multiple submitters episodic ataxia type 1 ⚠
p.Glu121Lys Multiple submitters episodic ataxia type 1 ⚠
p.Glu128Val Multiple submitters episodic ataxia type 1 ⚠
p.Glu141Lys Multiple submitters episodic ataxia type 1 ⚠
p.Glu161Lys Multiple submitters episodic ataxia type 1 ⚠
p.Glu350Lys Multiple submitters episodic ataxia type 1 ⚠
p.Glu422Asp Multiple submitters episodic ataxia type 1 ⚠
p.Glu49Gln Multiple submitters episodic ataxia type 1 ⚠
p.Glu79Ala Multiple submitters episodic ataxia type 1 ⚠
p.Glu79Gln Multiple submitters episodic ataxia type 1 ⚠
p.Glu7Lys Multiple submitters episodic ataxia type 1 ⚠
p.Gly135Ala Multiple submitters episodic ataxia type 1 ⚠
p.Gly200Ala Multiple submitters episodic ataxia type 1 ⚠
p.Gly311Cys Multiple submitters episodic ataxia type 1 ⚠
p.Gly384Arg Multiple submitters episodic ataxia type 1 ⚠
p.Gly6Arg Multiple submitters episodic ataxia type 1 ⚠
p.His18Pro Multiple submitters Inborn genetic diseases ⚠
p.His203Tyr Multiple submitters episodic ataxia type 1 ⚠
p.His467Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile137Thr Multiple submitters episodic ataxia type 1 ⚠
p.Ile137Val Multiple submitters episodic ataxia type 1 ⚠
p.Ile223Val Multiple submitters Inborn genetic diseases ⚠
p.Ile230Val Multiple submitters episodic ataxia type 1 ⚠
p.Ile267Val Multiple submitters Inborn genetic diseases ⚠
p.Lys118Arg Multiple submitters episodic ataxia type 1 ⚠
p.Lys118Glu Multiple submitters episodic ataxia type 1 ⚠
p.Lys246Glu Multiple submitters episodic ataxia type 1 ⚠
p.Lys53Asn Multiple submitters Inborn genetic diseases ⚠
p.Met449Ile Multiple submitters episodic ataxia type 1 ⚠
p.Met449Thr Multiple submitters Inborn genetic diseases ⚠
p.Met461Thr Multiple submitters episodic ataxia type 1 ⚠
p.Met461Val Multiple submitters Inborn genetic diseases ⚠
p.Met4Ile Multiple submitters Inborn genetic diseases ⚠
p.Met70Val Multiple submitters episodic ataxia type 1 ⚠
p.Phe234Leu Multiple submitters episodic ataxia type 1 ⚠
p.Pro25Leu Multiple submitters episodic ataxia type 1 ⚠
p.Pro75His Multiple submitters Inborn genetic diseases ⚠
p.Pro87Arg Multiple submitters episodic ataxia type 1 ⚠
p.Ser13Leu Multiple submitters ⚠
p.Ser214Phe Multiple submitters episodic ataxia type 1 ⚠
p.Ser306Cys Multiple submitters episodic ataxia type 1 ⚠
p.Ser306Phe Multiple submitters episodic ataxia type 1 ⚠
p.Ser445Gly Multiple submitters episodic ataxia type 1 ⚠
p.Ser489Asn Multiple submitters episodic ataxia type 1 ⚠
p.Trp154Gly Multiple submitters episodic ataxia type 1 ⚠
p.Tyr159His Multiple submitters episodic ataxia type 1 ⚠
p.Tyr24His Multiple submitters Inborn genetic diseases ⚠
p.Tyr265His Multiple submitters episodic ataxia type 1 ⚠
p.Tyr345Cys Multiple submitters episodic ataxia type 1 ⚠
p.Val106Ala Multiple submitters episodic ataxia type 1 ⚠
p.Val430Leu Multiple submitters episodic ataxia type 1 ⚠
p.Val430Phe Multiple submitters episodic ataxia type 1 ⚠
p.Val486Ile Multiple submitters Inborn genetic diseases ⚠
p.Val9Met Multiple submitters episodic ataxia type 1 ⚠
c.-1034C>T Single submitter episodic ataxia type 1
c.-1040G>T Single submitter episodic ataxia type 1
c.-143C>T Single submitter episodic ataxia type 1
c.-157T>A Single submitter episodic ataxia type 1
c.-16G>T Single submitter
c.-196C>T Single submitter episodic ataxia type 1
c.-230C>G Single submitter episodic ataxia type 1
c.-27C>T Single submitter episodic ataxia type 1
c.-420C>A Single submitter episodic ataxia type 1
c.-433C>G Single submitter episodic ataxia type 1
c.-482G>C Single submitter episodic ataxia type 1
c.-487A>G Single submitter episodic ataxia type 1
c.-530A>G Single submitter episodic ataxia type 1
c.-540+1G>T Single submitter
c.-628C>G Single submitter episodic ataxia type 1
c.-636G>C Single submitter episodic ataxia type 1
c.-684G>T Single submitter episodic ataxia type 1
c.-849T>A Single submitter episodic ataxia type 1
c.-909A>G Single submitter episodic ataxia type 1
c.-968C>T Single submitter episodic ataxia type 1
c.-99C>T Single submitter episodic ataxia type 1
c.*1012A>T Single submitter episodic ataxia type 1
c.*1236T>G Single submitter episodic ataxia type 1
c.*1308C>T Single submitter episodic ataxia type 1
c.*1320C>A Single submitter episodic ataxia type 1
c.*1376T>C Single submitter episodic ataxia type 1
c.*1832G>C Single submitter episodic ataxia type 1
c.*1865C>G Single submitter episodic ataxia type 1
c.*1977C>T Single submitter episodic ataxia type 1
c.*2000C>T Single submitter episodic ataxia type 1
c.*2104C>T Single submitter episodic ataxia type 1
c.*2279G>A Single submitter episodic ataxia type 1
c.*2286A>C Single submitter episodic ataxia type 1
c.*234A>T Single submitter episodic ataxia type 1
c.*2554C>T Single submitter episodic ataxia type 1
c.*2651C>T Single submitter episodic ataxia type 1
c.*2758G>A Single submitter episodic ataxia type 1
c.*2848A>G Single submitter episodic ataxia type 1
c.*2987G>A Single submitter episodic ataxia type 1
c.*3142A>G Single submitter episodic ataxia type 1
c.*3166G>C Single submitter episodic ataxia type 1
c.*3176A>T Single submitter episodic ataxia type 1
c.*3200A>G Single submitter episodic ataxia type 1
c.*3225G>A Single submitter episodic ataxia type 1
c.*3225G>C Single submitter episodic ataxia type 1
c.*3268C>T Single submitter episodic ataxia type 1
c.*3316T>C Single submitter episodic ataxia type 1
c.*3467C>T Single submitter episodic ataxia type 1
c.*3495G>C Single submitter episodic ataxia type 1
c.*3503C>T Single submitter episodic ataxia type 1
c.*3728T>G Single submitter episodic ataxia type 1
c.*377T>C Single submitter episodic ataxia type 1
c.*3862C>T Single submitter episodic ataxia type 1
c.*4152A>G Single submitter episodic ataxia type 1
c.*4177C>T Single submitter episodic ataxia type 1
c.*4236C>T Single submitter episodic ataxia type 1
c.*4276C>T Single submitter episodic ataxia type 1
c.*4289T>A Single submitter episodic ataxia type 1
c.*4303A>T Single submitter episodic ataxia type 1
c.*4422A>T Single submitter episodic ataxia type 1
c.*4432T>C Single submitter episodic ataxia type 1
c.*4447A>G Single submitter episodic ataxia type 1
c.*4477A>G Single submitter episodic ataxia type 1
c.*4718C>T Single submitter episodic ataxia type 1
c.*486G>C Single submitter episodic ataxia type 1
c.*4903C>G Single submitter episodic ataxia type 1
c.*4926G>A Single submitter episodic ataxia type 1
c.*4929G>T Single submitter episodic ataxia type 1
c.*4957C>A Single submitter episodic ataxia type 1
c.*4972C>T Single submitter episodic ataxia type 1
c.*5106C>G Single submitter episodic ataxia type 1
c.*511A>G Single submitter episodic ataxia type 1
c.*5136A>G Single submitter episodic ataxia type 1
c.*5190C>T Single submitter episodic ataxia type 1
c.*5212C>T Single submitter episodic ataxia type 1
c.*5274A>G Single submitter episodic ataxia type 1
c.*5279C>T Single submitter episodic ataxia type 1
c.*5340G>C Single submitter episodic ataxia type 1
c.*724G>A Single submitter episodic ataxia type 1
c.*804C>A Single submitter episodic ataxia type 1
c.*829A>G Single submitter episodic ataxia type 1
c.*883T>G Single submitter episodic ataxia type 1
c.*88G>A Single submitter episodic ataxia type 1
c.*965A>T Single submitter episodic ataxia type 1
p.Ala12Pro Single submitter episodic ataxia type 1 ⚠
p.Ala12Ser Single submitter Inborn genetic diseases ⚠
p.Ala12Val Single submitter episodic ataxia type 1 ⚠
p.Ala14Ser Single submitter episodic ataxia type 1 ⚠
p.Ala15Thr Single submitter episodic ataxia type 1 ⚠
p.Ala15Val Single submitter episodic ataxia type 1 ⚠
p.Ala170Thr Single submitter ⚠
p.Ala242Ser Single submitter episodic ataxia type 1 ⚠
p.Ala242Val Single submitter ⚠
p.Ala285Pro Single submitter episodic ataxia type 1 ⚠
p.Ala289Thr Single submitter episodic ataxia type 1 ⚠
p.Ala28Gly Single submitter ⚠
p.Ala349Glu Single submitter episodic ataxia type 1 ⚠
p.Ala352Pro Single submitter ⚠
p.Ala366Val Single submitter Inborn genetic diseases ⚠
p.Ala393Val Single submitter ⚠
p.Ala425Thr Single submitter episodic ataxia type 1 ⚠
p.Ala436Pro Single submitter episodic ataxia type 1 ⚠
p.Ala481Val Single submitter episodic ataxia type 1 ⚠
p.Arg101= Single submitter episodic ataxia type 1
p.Arg101Leu Single submitter ⚠
p.Arg104Ser Single submitter episodic ataxia type 1 ⚠
p.Arg151Pro Single submitter ⚠
p.Arg204Gly Single submitter episodic ataxia type 1 ⚠
p.Arg298Gly Single submitter ⚠
p.Arg443Cys Single submitter episodic ataxia type 1 ⚠
p.Arg469Gly Single submitter episodic ataxia type 1 ⚠
p.Arg474Ser Single submitter episodic ataxia type 1 ⚠
p.Arg47Pro Single submitter episodic ataxia type 1 ⚠
p.Arg47Ser Single submitter episodic ataxia type 1 ⚠
p.Arg69Pro Single submitter episodic ataxia type 1 ⚠
p.Arg71His Single submitter episodic ataxia type 1 ⚠
p.Arg84Gly Single submitter episodic ataxia type 1 ⚠
p.Arg84Ser Single submitter Inborn genetic diseases ⚠
p.Asn213Tyr Single submitter Inborn genetic diseases ⚠
p.Asn215Ile Single submitter episodic ataxia type 1 ⚠
p.Asn215Ser Single submitter episodic ataxia type 1 ⚠
p.Asn252Ile Single submitter episodic ataxia type 1 ⚠
p.Asn252Ser Single submitter episodic ataxia type 1 ⚠
p.Asn252Thr Single submitter ⚠
p.Asn255fs Single submitter episodic ataxia type 1
p.Asn279Lys Single submitter ⚠
p.Asn410Thr Single submitter episodic ataxia type 1 ⚠
p.Asn472Ser Single submitter episodic ataxia type 1 ⚠
p.Asn60fs Single submitter hereditary ataxia
p.Asp10Glu Single submitter episodic ataxia type 1 ⚠
p.Asp111fs Single submitter episodic ataxia type 1
p.Asp195Glu Single submitter episodic ataxia type 1 ⚠
p.Asp206Tyr Single submitter episodic ataxia type 1 ⚠
p.Asp21Tyr Single submitter episodic ataxia type 1 ⚠
p.Asp248His Single submitter episodic ataxia type 1 ⚠
p.Asp258Asn Single submitter ⚠
p.Asp29Tyr Single submitter ⚠
p.Asp377Asn Single submitter episodic ataxia type 1 ⚠
p.Asp377Gly Single submitter ⚠
p.Asp460Gly Single submitter episodic ataxia type 1 ⚠
p.Asp74Asn Single submitter episodic ataxia type 1 ⚠
p.Asp74Glu Single submitter ⚠
p.Asp74Tyr Single submitter episodic ataxia type 1 ⚠
p.Asp90Asn Single submitter episodic ataxia type 1 ⚠
p.Cys185Arg Single submitter ⚠
p.Cys243Gly Single submitter episodic ataxia type 1 ⚠
p.Cys243Ter Single submitter KCNA1-related disorder
p.Cys35Arg Single submitter episodic ataxia type 1 ⚠
p.Cys35Tyr Single submitter episodic ataxia type 1 ⚠
p.Cys478Tyr Single submitter episodic ataxia type 1 ⚠
p.Cys485Ser Single submitter episodic ataxia type 1 ⚠
p.Cys485Ter Single submitter episodic ataxia type 1
p.Cys485Tyr Single submitter Inborn genetic diseases ⚠
p.Gln20Lys Single submitter episodic ataxia type 1 ⚠
p.Gln20Ter Single submitter
p.Gln276Arg Single submitter episodic ataxia type 1 ⚠
p.Gln426Arg Single submitter episodic ataxia type 1 ⚠
p.Gln426Ter Single submitter episodic ataxia type 1
p.Gln51Leu Single submitter episodic ataxia type 1 ⚠
p.Glu116Gly Single submitter ⚠
p.Glu11Ter Single submitter episodic ataxia type 1
p.Glu124Lys Single submitter episodic ataxia type 1 ⚠
p.Glu125Asp Single submitter ⚠
p.Glu128Gly Single submitter episodic ataxia type 1 ⚠
p.Glu134Gln Single submitter ⚠
p.Glu134Gly Single submitter episodic ataxia type 1 ⚠
p.Glu139Gly Single submitter episodic ataxia type 1 ⚠
p.Glu139Lys Single submitter ⚠
p.Glu146Gln Single submitter episodic ataxia type 1 ⚠
p.Glu146Lys Single submitter episodic ataxia type 1 ⚠
p.Glu146Ter Single submitter episodic ataxia type 1
p.Glu148Ala Single submitter episodic ataxia type 1 ⚠
p.Glu187Gln Single submitter episodic ataxia type 1 ⚠
p.Glu187Gly Single submitter ⚠
p.Glu187Lys Single submitter episodic ataxia type 1 ⚠
p.Glu225fs Single submitter
p.Glu235= Single submitter
p.Glu275Asp Single submitter episodic ataxia type 1 ⚠
p.Glu275Gln Single submitter episodic ataxia type 1 ⚠
p.Glu325Lys Single submitter episodic ataxia type 1 ⚠
p.Glu350Gln Single submitter Inborn genetic diseases ⚠
p.Glu420Asp Single submitter episodic ataxia type 1 ⚠
p.Glu420Gln Single submitter episodic ataxia type 1 ⚠
p.Glu423Gln Single submitter ⚠
p.Glu453Gly Single submitter ⚠
p.Glu456Gln Single submitter ⚠
p.Glu456Lys Single submitter episodic ataxia type 1 ⚠
p.Glu458Gly Single submitter episodic ataxia type 1 ⚠
p.Glu458Lys Single submitter ⚠
p.Glu458Ter Single submitter episodic ataxia type 1
p.Glu79Ter Single submitter episodic ataxia type 1
p.Gly17Arg Single submitter episodic ataxia type 1 ⚠
p.Gly200Arg Single submitter episodic ataxia type 1 ⚠
p.Gly316Arg Single submitter ⚠
p.Gly374Ala Single submitter episodic ataxia type 1 ⚠
p.Gly389Asp Single submitter episodic ataxia type 1 ⚠
p.Gly389Val Single submitter episodic ataxia type 1 ⚠
p.Gly45= Single submitter
p.Gly64= Single submitter episodic ataxia type 1
p.Gly64Asp Single submitter ⚠
p.Gly6Ala Single submitter episodic ataxia type 1 ⚠
p.Gly99Ser Single submitter episodic ataxia type 1 ⚠
p.His18fs Single submitter
p.His203Arg Single submitter episodic ataxia type 1 ⚠
p.His203Pro Single submitter episodic ataxia type 1 ⚠
p.His308Gln Single submitter Inborn genetic diseases ⚠
p.His33_Glu34insAspValHis Single submitter episodic ataxia type 1
p.His33Tyr Single submitter episodic ataxia type 1 ⚠
p.His429Gln Single submitter episodic ataxia type 1 ⚠
p.Ile171Val Single submitter episodic ataxia type 1 ⚠
p.Ile181Asn Single submitter episodic ataxia type 1 ⚠
p.Ile211= Single submitter episodic ataxia type 1
p.Ile216Thr Single submitter ⚠
p.Ile230Thr Single submitter episodic ataxia type 1 ⚠
p.Ile253Phe Single submitter episodic ataxia type 1 ⚠
p.Ile253Val Single submitter episodic ataxia type 1 ⚠
p.Ile257Val Single submitter episodic ataxia type 1 ⚠
p.Ile262Val Single submitter ⚠
p.Ile273Thr Single submitter episodic ataxia type 1