KCND3 — 703 ClinVar variants

All ClinVar germline KCND3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 325 flagged for review →

10 Pathogenic · 3 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 33 Conflicting · 24 Benign · 18 Benign/Likely benign · 278 Likely benign · 320 Uncertain significance

Full KCND3 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 21

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

KCND3 p.Arg549Cys Conflicting Single submitter
Cardiovascular phenotype
KCND3 p.Arg549His Conflicting Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Arg550His Conflicting Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Arg568Cys Conflicting Single submitter
Cardiovascular phenotype
KCND3 p.Arg568His Conflicting Single submitter
Cardiovascular phenotype
KCND3 p.Arg630Gln Conflicting Single submitter
Cardiovascular phenotype
KCND3 p.Glu343Lys Conflicting Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Gly371Arg Conflicting Single submitter
KCND3-related disorder
KCND3 p.Gly600Arg Conflicting Single submitter
Cardiovascular phenotype
KCND3 p.Leu328Arg Conflicting Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Leu450Phe Conflicting Single submitter
Cardiovascular phenotype
KCND3 p.Leu586Val Conflicting Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Lys214Arg Conflicting Single submitter
Cardiovascular phenotype
KCND3 p.Phe351Leu Conflicting Single submitter
KCND3 p.Ser357Leu Conflicting Single submitter
Cardiovascular phenotype
KCND3 p.Thr204Met Conflicting Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Thr209Met Conflicting Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Thr457Met Conflicting Single submitter
Cardiovascular phenotype
KCND3 p.Thr575Met Conflicting Single submitter
Cardiovascular phenotype
KCND3 p.Thr588Ala Conflicting Single submitter
Cardiovascular phenotype
KCND3 p.Thr640Met Conflicting Single submitter
Cardiovascular phenotype

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.

KCND3 p.Leu497fs Conflicting Single submitter

Predictors lean, ClinVar uncertain 222

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 222

KCND3 p.Ala144Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Ala144Val Uncertain significance Multiple submitters
KCND3 p.Ala348Val Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Ala622Ser Uncertain significance Multiple submitters
spinocerebellar ataxia type 19/22
KCND3 p.Ala654Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Arg166Cys Uncertain significance Multiple submitters
KCND3 p.Arg293His Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Arg408Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Arg419His Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Arg426Cys Uncertain significance Multiple submitters
spinocerebellar ataxia type 19/22
KCND3 p.Arg426His Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Arg431Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Arg566His Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Arg630Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Asp149Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Asp150Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Asp33Val Uncertain significance Multiple submitters
spinocerebellar ataxia type 19/22
KCND3 p.Asp512Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Asp599Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Glu145Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Glu463Lys Uncertain significance Multiple submitters
spinocerebellar ataxia type 19/22
KCND3 p.Glu473Asp Uncertain significance Multiple submitters
spinocerebellar ataxia type 19/22
KCND3 p.Glu517Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Glu522Lys Uncertain significance Multiple submitters
spinocerebellar ataxia type 19/22
KCND3 p.Gly306Asp Uncertain significance Multiple submitters
spinocerebellar ataxia type 19/22
KCND3 p.Gly380Glu Uncertain significance Multiple submitters
KCND3 p.Gly627Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Gly637Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Ile617Val Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Ile642Phe Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Leu216Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Leu289Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Leu449Phe Uncertain significance Multiple submitters
spinocerebellar ataxia type 19/22
KCND3 p.Leu471Phe Uncertain significance Multiple submitters
KCND3 p.Lys315Glu Uncertain significance Multiple submitters
KCND3 p.Met160Val Uncertain significance Multiple submitters
spinocerebellar ataxia type 19/22
KCND3 p.Met465Val Uncertain significance Multiple submitters
spinocerebellar ataxia type 19/22
KCND3 p.Pro534Thr Uncertain significance Multiple submitters
Brugada syndrome 9
KCND3 p.Pro625Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Ser162Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Ser357Trp Uncertain significance Multiple submitters
hereditary ataxia
KCND3 p.Ser438Leu Uncertain significance Multiple submitters
KCND3 p.Ser490Cys Uncertain significance Multiple submitters
spinocerebellar ataxia type 19/22
KCND3 p.Ser499Cys Uncertain significance Multiple submitters
spinocerebellar ataxia type 19/22
KCND3 p.Ser608Pro Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Thr178Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Thr457Ala Uncertain significance Multiple submitters
spinocerebellar ataxia type 19/22
KCND3 p.Thr545Ile Uncertain significance Multiple submitters
spinocerebellar ataxia type 19/22
KCND3 p.Val258Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Val649Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Ala247Thr Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Ala247Val Uncertain significance Single submitter
KCND3 p.Ala396Val Uncertain significance Single submitter
KCND3 p.Ala3Gly Uncertain significance Single submitter
KCND3 p.Ala622Glu Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Ala634Thr Uncertain significance Single submitter
KCND3 p.Ala646Asp Uncertain significance Single submitter
KCND3 p.Arg107His Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Arg107Ser Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Arg146Trp Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Arg166His Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Arg171Trp Uncertain significance Single submitter
KCND3 p.Arg244Gln Uncertain significance Single submitter
KCND3 p.Arg37Gln Uncertain significance Single submitter
KCND3 p.Arg408Trp Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Arg419Cys Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Arg431Leu Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Arg431Pro Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Arg446His Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Arg49Gln Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Arg501Gln Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Arg50Lys Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Arg568Pro Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Arg60Cys Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Arg86Gln Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Arg86Gly Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Arg92Ser Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Arg99Cys Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Arg99Ser Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Asn151Lys Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Asn156Lys Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Asn200Lys Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Asn447Asp Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Asn451His Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Asn451Ser Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Asn559Ser Uncertain significance Single submitter
KCND3 p.Asn648Asp Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Asn648Ser Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Asn648Thr Uncertain significance Single submitter
KCND3 p.Asp116Glu Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Asp130Tyr Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Asp39Val Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Asp85His Uncertain significance Single submitter
KCND3 p.Cys218Trp Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Cys520Tyr Uncertain significance Single submitter
KCND3 p.Gln579Pro Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Gln583His Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Glu117Gln Uncertain significance Single submitter
KCND3 p.Glu145Gln Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Glu174Lys Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Glu461Lys Uncertain significance Single submitter
KCND3 p.Glu462Lys Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Glu582Gly Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Glu626Gln Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Glu628Gly Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Glu81Ala Uncertain significance Single submitter
KCND3 p.Gly129Arg Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Gly212Asp Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Gly219Trp Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Gly391Ser Uncertain significance Single submitter
KCND3 p.Gly458Ser Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Gly458Val Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Gly48Ala Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Gly541Asp Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Gly580Ser Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Gly600Ala Uncertain significance Single submitter
KCND3 p.Gly600Glu Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.His481Arg Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.His481Asn Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.His539Asn Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Ile123Val Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Ile128Val Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Ile198Val Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Ile262Ser Uncertain significance Single submitter
KCND3 p.Ile354Val Uncertain significance Single submitter
KCND3 p.Ile402Thr Uncertain significance Single submitter
KCND3 p.Ile409Met Uncertain significance Single submitter
Brugada syndrome 9
KCND3 p.Ile505Asn Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Ile511Ser Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Ile511Thr Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Ile578Val Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Ile645Thr Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Leu147Phe Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Leu216Met Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Leu229Val Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Leu307Pro Uncertain significance Single submitter
KCND3 p.Leu368Met Uncertain significance Single submitter
KCND3 p.Leu456Met Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Leu471Val Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Leu586His Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Leu586Phe Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Leu595Trp Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Lys102Asn Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Lys34Arg Uncertain significance Single submitter
KCND3 p.Lys36Thr Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Lys80Arg Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Lys80Gln Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Met148Leu Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Met148Thr Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Met330Thr Uncertain significance Single submitter
spinocerebellar ataxia type 19/22

Predictors split 81

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

KCND3 p.Ala15Val Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Ala172Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Ala30Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Arg13Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Asp116Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Asp512Ala Uncertain significance Multiple submitters
spinocerebellar ataxia type 19/22
KCND3 p.Gly208Ser Uncertain significance Multiple submitters
spinocerebellar ataxia type 19/22
KCND3 p.His476Arg Uncertain significance Multiple submitters
spinocerebellar ataxia type 19/22
KCND3 p.Pro28Thr Uncertain significance Multiple submitters
spinocerebellar ataxia type 19/22
KCND3 p.Pro31Ser Uncertain significance Multiple submitters
spinocerebellar ataxia type 19/22
KCND3 p.Pro620His Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Pro621Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Thr189Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Thr619Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
KCND3 p.Val264Met Uncertain significance Multiple submitters
spinocerebellar ataxia type 19/22
KCND3 p.Ala113Val Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Ala119Asp Uncertain significance Single submitter
KCND3 p.Ala144Pro Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Ala15Thr Uncertain significance Single submitter
KCND3 p.Ala194Thr Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Ala247Ser Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Ala2Glu Conflicting Single submitter
Cardiovascular phenotype
KCND3 p.Ala356Ser Uncertain significance Single submitter
KCND3 p.Ala428Thr Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Ala440Thr Uncertain significance Single submitter
KCND3 p.Ala6Val Uncertain significance Single submitter
KCND3 p.Arg253Cys Uncertain significance Single submitter
KCND3 p.Arg431His Conflicting Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Arg446Cys Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Arg550Cys Conflicting Single submitter
Cardiovascular phenotype
KCND3 p.Arg55Ser Uncertain significance Single submitter
KCND3 p.Arg566Cys Conflicting Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Arg590Cys Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Arg60Leu Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Asn143Thr Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Asn175Asp Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Asp130Asn Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Asp150Asn Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Glu154Lys Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Glu473Lys Conflicting Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Glu473Val Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Glu509Lys Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Glu572Val Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Glu77Lys Uncertain significance Single submitter
KCND3 p.Gly18Arg Uncertain significance Single submitter
KCND3 p.Gly208Val Uncertain significance Single submitter
KCND3 p.Gly273Ser Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Gly345Ser Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Gly345Val Pathogenic Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Gly436Asp Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Ile111Met Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Ile297Val Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Ile578Thr Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Ile610Thr Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Leu242Phe Uncertain significance Single submitter
KCND3 p.Leu479Met Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Leu573Phe Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Lys140Asn Likely benign Single submitter
Cardiovascular phenotype
KCND3 p.Met169Thr Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Met20Lys Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Met235Thr Uncertain significance Single submitter
KCND3 p.Met330Ile Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Met339Ile Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Phe173Leu Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Phe97Leu Uncertain significance Single submitter
KCND3 p.Pro28Leu Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Pro31Leu Uncertain significance Single submitter
KCND3 p.Ser223Leu Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Ser327Phe Uncertain significance Single submitter
KCND3 p.Ser438Trp Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Ser535Leu Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Ser591Cys Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Thr180Met Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Thr352Ala Uncertain significance Single submitter
KCND3 p.Thr486Ala Conflicting Single submitter
Cardiovascular phenotype
KCND3 p.Thr487Ile Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Thr79Ala Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Trp8Arg Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Val184Ala Uncertain significance Single submitter
spinocerebellar ataxia type 19/22
KCND3 p.Val94Met Uncertain significance Single submitter
Cardiovascular phenotype
KCND3 p.Met373Ile Uncertain significance No assertion criteria
Variant of unknown significance

All KCND3 variants

Pathogenic 10

p.Phe227del Multiple submitters spinocerebellar ataxia type 19/22
p.Thr377Met Multiple submitters spinocerebellar ataxia type 19/22
p.Cys317Tyr Single submitter spinocerebellar ataxia type 19/22
p.Gly306Ser Single submitter
p.Gly345Val Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Ser385Pro Single submitter spinocerebellar ataxia type 19/22
p.Thr352Pro Single submitter spinocerebellar ataxia type 19/22
p.Val338Glu Single submitter spinocerebellar ataxia type 19/22
p.Val401Leu Single submitter epilepsy
p.Val401Met Single submitter

Pathogenic/Likely pathogenic 3

p.Gly384Ser Multiple submitters hereditary ataxia
p.Pro375Ser Multiple submitters spinocerebellar ataxia type 19/22
p.Val392Ile Multiple submitters KCND3-associated neurodevelopmental disorder

Likely pathogenic 17

p.Arg290Gln Multiple submitters spinocerebellar ataxia type 19/22
p.Arg296_Ile297insValPheArg Single submitter spinocerebellar ataxia type 19/22
p.Arg302Gly Single submitter KCND3-related disorder
p.Arg302His Single submitter spinocerebellar ataxia type 19/22
p.Arg302Pro Single submitter spinocerebellar ataxia type 19/22
p.Gly380Trp Single submitter spinocerebellar ataxia type 19/22
p.Ile354Asn Single submitter Cardiovascular phenotype
p.Met365Thr Single submitter
p.Ser283Cys Single submitter spinocerebellar ataxia type 19/22
p.Ser304Phe Single submitter spinocerebellar ataxia type 19/22
p.Ser304Pro Single submitter
p.Ser385Cys Single submitter
p.Ser390Asn Single submitter spinocerebellar ataxia type 19/22
p.Ser390Ile Single submitter
p.Thr377Ala Single submitter spinocerebellar ataxia type 19/22
p.Trp359Leu Single submitter intellectual disability
p.Val399Leu Single submitter

Conflicting classifications of pathogenicity 33

c.1519-5C>T Single submitter Cardiovascular phenotype
p.Ala2Glu Single submitter Cardiovascular phenotype ⚠
p.Arg431His Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Arg549Cys Single submitter Cardiovascular phenotype ⚠
p.Arg549His Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Arg550Cys Single submitter Cardiovascular phenotype ⚠
p.Arg550His Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Arg566Cys Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Arg568Cys Single submitter Cardiovascular phenotype ⚠
p.Arg568His Single submitter Cardiovascular phenotype ⚠
p.Arg590His Single submitter Cardiovascular phenotype
p.Arg630Gln Single submitter Cardiovascular phenotype ⚠
p.Glu343Lys Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Glu473Lys Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Gly371Arg Single submitter KCND3-related disorder ⚠
p.Gly600Arg Single submitter Cardiovascular phenotype ⚠
p.Leu328Arg Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Leu450Phe Single submitter Cardiovascular phenotype ⚠
p.Leu497fs Single submitter ⚠
p.Leu498= Single submitter spinocerebellar ataxia type 19/22
p.Leu586Val Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Lys214Arg Single submitter Cardiovascular phenotype ⚠
p.Phe351Leu Single submitter ⚠
p.Ser357Leu Single submitter Cardiovascular phenotype ⚠
p.Ser438= Single submitter Cardiovascular phenotype
p.Thr204Met Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Thr209Met Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Thr457Met Single submitter Cardiovascular phenotype ⚠
p.Thr486Ala Single submitter Cardiovascular phenotype ⚠
p.Thr575Met Single submitter Cardiovascular phenotype ⚠
p.Thr588Ala Single submitter Cardiovascular phenotype ⚠
p.Thr640= Single submitter spinocerebellar ataxia type 19/22
p.Thr640Met Single submitter Cardiovascular phenotype ⚠

Benign 24

c.1106+15G>A Multiple submitters spinocerebellar ataxia type 19/22
c.1107-110C>A Multiple submitters
c.1269+15C>A Multiple submitters spinocerebellar ataxia type 19/22
c.1371+116C>T Multiple submitters
c.1518+212A>C Multiple submitters
c.1518+26A>T Multiple submitters
c.1518+74C>T Multiple submitters
c.1519-4G>T Multiple submitters spinocerebellar ataxia type 19/22
c.-73+620G>T Multiple submitters
c.*215T>C Multiple submitters
p.Arg290= Multiple submitters spinocerebellar ataxia type 19/22
p.Arg630= Multiple submitters spinocerebellar ataxia type 19/22
p.Pro88= Multiple submitters Cardiovascular phenotype
p.Tyr441= Multiple submitters spinocerebellar ataxia type 19/22
c.1107-250A>C Single submitter
c.1107-47915C>T Single submitter spinocerebellar ataxia type 19/22
c.1269+154C>T Single submitter
c.1269+270C>T Single submitter
c.1462-208A>G Single submitter
c.1518+12del Single submitter spinocerebellar ataxia type 19/22
c.1518+258G>A Single submitter
c.1766+260T>C Single submitter
c.1767-72T>C Single submitter
c.-72-311T>C Single submitter

Benign/Likely benign 18

c.1106+10C>T Multiple submitters spinocerebellar ataxia type 19/22
c.1269+13C>T Multiple submitters spinocerebellar ataxia type 19/22
c.1372-6dup Multiple submitters spinocerebellar ataxia type 19/22
p.Arg302= Multiple submitters Cardiovascular phenotype
p.Asn561= Multiple submitters spinocerebellar ataxia type 19/22
p.Asp263= Multiple submitters Cardiovascular phenotype
p.Asp39= Multiple submitters Cardiovascular phenotype
p.Asp598= Multiple submitters spinocerebellar ataxia type 19/22
p.Glu452Lys Multiple submitters Cardiovascular phenotype
p.Gly208= Multiple submitters spinocerebellar ataxia type 19/22
p.Gly436= Multiple submitters Cardiovascular phenotype
p.Ile262= Multiple submitters Cardiovascular phenotype
p.Met525Val Multiple submitters Cardiovascular phenotype
p.Phe173= Multiple submitters Cardiovascular phenotype
p.Pro211= Multiple submitters Cardiovascular phenotype
p.Ser319= Multiple submitters Cardiovascular phenotype
p.Ser653= Multiple submitters Cardiovascular phenotype
p.Thr209= Multiple submitters Cardiovascular phenotype

Likely benign 278

c.1270-153G>C Multiple submitters
c.1372-34G>A Multiple submitters
c.1372-4C>A Multiple submitters spinocerebellar ataxia type 19/22
c.1372-4C>T Multiple submitters spinocerebellar ataxia type 19/22
c.1519-4G>A Multiple submitters spinocerebellar ataxia type 19/22
c.1519-96G>A Multiple submitters
c.1766+3G>A Multiple submitters spinocerebellar ataxia type 19/22
c.1767-6T>C Multiple submitters spinocerebellar ataxia type 19/22
c.*225T>C Multiple submitters
p.Ala113= Multiple submitters spinocerebellar ataxia type 19/22
p.Ala247= Multiple submitters Cardiovascular phenotype
p.Ala3= Multiple submitters Cardiovascular phenotype
p.Ala342= Multiple submitters spinocerebellar ataxia type 19/22
p.Ala348= Multiple submitters spinocerebellar ataxia type 19/22
p.Ala433= Multiple submitters Cardiovascular phenotype
p.Ala453= Multiple submitters Cardiovascular phenotype
p.Ala6= Multiple submitters Cardiovascular phenotype
p.Ala622= Multiple submitters Cardiovascular phenotype
p.Ala622Val Multiple submitters spinocerebellar ataxia type 19/22
p.Arg107= Multiple submitters Cardiovascular phenotype
p.Arg293= Multiple submitters Cardiovascular phenotype
p.Asn279= Multiple submitters Cardiovascular phenotype
p.Asn45= Multiple submitters spinocerebellar ataxia type 19/22
p.Asn451= Multiple submitters Cardiovascular phenotype
p.Asn76= Multiple submitters Cardiovascular phenotype
p.Asp116= Multiple submitters spinocerebellar ataxia type 19/22
p.Asp149= Multiple submitters Cardiovascular phenotype
p.Asp512= Multiple submitters Cardiovascular phenotype
p.Asp599= Multiple submitters spinocerebellar ataxia type 19/22
p.Cys207= Multiple submitters Cardiovascular phenotype
p.Cys520= Multiple submitters Cardiovascular phenotype
p.Cys547= Multiple submitters Cardiovascular phenotype
p.Glu220= Multiple submitters spinocerebellar ataxia type 19/22
p.Glu70= Multiple submitters spinocerebellar ataxia type 19/22
p.Gly391= Multiple submitters Cardiovascular phenotype
p.Gly580= Multiple submitters Cardiovascular phenotype
p.His443= Multiple submitters Cardiovascular phenotype
p.His478= Multiple submitters Cardiovascular phenotype
p.His508= Multiple submitters Cardiovascular phenotype
p.Ile272= Multiple submitters spinocerebellar ataxia type 19/22
p.Ile354= Multiple submitters spinocerebellar ataxia type 19/22
p.Ile382= Multiple submitters spinocerebellar ataxia type 19/22
p.Ile386= Multiple submitters Cardiovascular phenotype
p.Ile472= Multiple submitters Cardiovascular phenotype
p.Leu245= Multiple submitters spinocerebellar ataxia type 19/22
p.Leu29= Multiple submitters Cardiovascular phenotype
p.Leu454= Multiple submitters Cardiovascular phenotype
p.Leu456= Multiple submitters spinocerebellar ataxia type 19/22
p.Lys381= Multiple submitters Cardiovascular phenotype
p.Phe192= Multiple submitters Cardiovascular phenotype
p.Phe323= Multiple submitters Cardiovascular phenotype
p.Phe351= Multiple submitters Cardiovascular phenotype
p.Phe383= Multiple submitters Cardiovascular phenotype
p.Phe84= Multiple submitters Cardiovascular phenotype
p.Pro106= Multiple submitters Cardiovascular phenotype
p.Pro161= Multiple submitters spinocerebellar ataxia type 19/22
p.Pro176= Multiple submitters Cardiovascular phenotype
p.Pro217= Multiple submitters Cardiovascular phenotype
p.Pro529= Multiple submitters spinocerebellar ataxia type 19/22
p.Pro584= Multiple submitters Cardiovascular phenotype
p.Ser164= Multiple submitters spinocerebellar ataxia type 19/22
p.Thr100= Multiple submitters Cardiovascular phenotype
p.Thr231= Multiple submitters spinocerebellar ataxia type 19/22
p.Thr377= Multiple submitters Cardiovascular phenotype
p.Thr435= Multiple submitters Cardiovascular phenotype
p.Thr53= Multiple submitters Cardiovascular phenotype
p.Thr575= Multiple submitters Cardiovascular phenotype
p.Tyr108= Multiple submitters spinocerebellar ataxia type 19/22
p.Tyr114= Multiple submitters spinocerebellar ataxia type 19/22
p.Tyr133= Multiple submitters spinocerebellar ataxia type 19/22
p.Tyr187= Multiple submitters spinocerebellar ataxia type 19/22
p.Tyr370= Multiple submitters Cardiovascular phenotype
p.Val399= Multiple submitters spinocerebellar ataxia type 19/22
c.1106+11G>A Single submitter spinocerebellar ataxia type 19/22
c.1106+11G>T Single submitter spinocerebellar ataxia type 19/22
c.1106+14G>A Single submitter spinocerebellar ataxia type 19/22
c.1106+296G>T Single submitter
c.1107-12T>C Single submitter spinocerebellar ataxia type 19/22
c.1107-21_1107-20del Single submitter spinocerebellar ataxia type 19/22
c.1107-7C>T Single submitter spinocerebellar ataxia type 19/22
c.1269+14G>A Single submitter spinocerebellar ataxia type 19/22
c.1269+17G>A Single submitter spinocerebellar ataxia type 19/22
c.1269+18G>A Single submitter spinocerebellar ataxia type 19/22
c.1270-18T>C Single submitter spinocerebellar ataxia type 19/22
c.1270-20dup Single submitter spinocerebellar ataxia type 19/22
c.1270-6T>C Single submitter spinocerebellar ataxia type 19/22
c.1371+19T>G Single submitter spinocerebellar ataxia type 19/22
c.1371+8C>T Single submitter spinocerebellar ataxia type 19/22
c.1372-112dup Single submitter
c.1372-13_1372-12insA Single submitter spinocerebellar ataxia type 19/22
c.1372-14T>C Single submitter spinocerebellar ataxia type 19/22
c.1372-17T>C Single submitter spinocerebellar ataxia type 19/22
c.1372-20C>T Single submitter spinocerebellar ataxia type 19/22
c.1372-6T>C Single submitter spinocerebellar ataxia type 19/22
c.1372-6T>G Single submitter spinocerebellar ataxia type 19/22
c.1461+13C>T Single submitter spinocerebellar ataxia type 19/22
c.1461+7C>A Single submitter spinocerebellar ataxia type 19/22
c.1461+9C>T Single submitter spinocerebellar ataxia type 19/22
c.1462-10T>G Single submitter spinocerebellar ataxia type 19/22
c.1462-13T>C Single submitter spinocerebellar ataxia type 19/22
c.1462-16G>T Single submitter spinocerebellar ataxia type 19/22
c.1462-4G>A Single submitter spinocerebellar ataxia type 19/22
c.1462-4G>C Single submitter spinocerebellar ataxia type 19/22
c.1518+16A>C Single submitter spinocerebellar ataxia type 19/22
c.1518+17A>C Single submitter spinocerebellar ataxia type 19/22
c.1518+18T>C Single submitter spinocerebellar ataxia type 19/22
c.1519-10C>T Single submitter spinocerebellar ataxia type 19/22
c.1519-17_1519-15del Single submitter spinocerebellar ataxia type 19/22
c.1519-20_1519-18del Single submitter spinocerebellar ataxia type 19/22
c.1519-67A>G Single submitter
c.1766+224dup Single submitter
c.1767-17A>C Single submitter spinocerebellar ataxia type 19/22
c.1767-4C>G Single submitter spinocerebellar ataxia type 19/22
c.-27del Single submitter
c.-30G>A Single submitter
c.-36G>C Single submitter
c.-47G>C Single submitter
c.-72-119T>C Single submitter
c.-72-245C>T Single submitter
c.-72-284C>A Single submitter
c.-73+753A>G Single submitter
c.*257dup Single submitter
p.Ala119= Single submitter Cardiovascular phenotype
p.Ala12= Single submitter spinocerebellar ataxia type 19/22
p.Ala194= Single submitter Cardiovascular phenotype
p.Ala232= Single submitter Cardiovascular phenotype
p.Ala248= Single submitter Cardiovascular phenotype
p.Ala285= Single submitter Cardiovascular phenotype
p.Ala30Ser Single submitter spinocerebellar ataxia type 19/22
p.Ala32= Single submitter spinocerebellar ataxia type 19/22
p.Ala453Val Single submitter spinocerebellar ataxia type 19/22
p.Ala564= Single submitter spinocerebellar ataxia type 19/22
p.Arg139= Single submitter Cardiovascular phenotype
p.Arg221= Single submitter spinocerebellar ataxia type 19/22
p.Arg256= Single submitter Cardiovascular phenotype
p.Arg429= Single submitter Cardiovascular phenotype
p.Arg532= Single submitter Cardiovascular phenotype
p.Arg55= Single submitter Cardiovascular phenotype
p.Arg590= Single submitter Cardiovascular phenotype
p.Arg92= Single submitter Cardiovascular phenotype
p.Arg99= Single submitter Cardiovascular phenotype
p.Asn143= Single submitter
p.Asn151= Single submitter Cardiovascular phenotype
p.Asn200= Single submitter spinocerebellar ataxia type 19/22
p.Asn639Lys Single submitter spinocerebellar ataxia type 19/22
p.Asn96= Single submitter Cardiovascular phenotype
p.Asp115= Single submitter Cardiovascular phenotype
p.Asp152= Single submitter Cardiovascular phenotype
p.Asp281= Single submitter Cardiovascular phenotype
p.Cys218= Single submitter Cardiovascular phenotype
p.Cys482= Single submitter
p.Cys93= Single submitter Cardiovascular phenotype
p.Gln167= Single submitter Cardiovascular phenotype
p.Glu174= Single submitter spinocerebellar ataxia type 19/22
p.Glu174Gln Single submitter spinocerebellar ataxia type 19/22
p.Glu203= Single submitter spinocerebellar ataxia type 19/22
p.Glu320= Single submitter Cardiovascular phenotype
p.Glu40= Single submitter Cardiovascular phenotype
p.Glu473= Single submitter spinocerebellar ataxia type 19/22
p.Glu513= Single submitter Cardiovascular phenotype
p.Glu626= Single submitter Cardiovascular phenotype
p.Glu77= Single submitter Cardiovascular phenotype
p.Glu89= Single submitter Cardiovascular phenotype
p.Gly101= Single submitter Cardiovascular phenotype
p.Gly129= Single submitter Cardiovascular phenotype
p.Gly219= Single submitter Cardiovascular phenotype
p.Gly273= Single submitter Cardiovascular phenotype
p.Gly306= Single submitter Cardiovascular phenotype
p.Gly448= Single submitter Cardiovascular phenotype
p.Gly488= Single submitter spinocerebellar ataxia type 19/22
p.Gly627= Single submitter Cardiovascular phenotype
p.His477= Single submitter spinocerebellar ataxia type 19/22
p.Ile123= Single submitter Cardiovascular phenotype
p.Ile128= Single submitter Cardiovascular phenotype
p.Ile193= Single submitter Cardiovascular phenotype
p.Ile333= Single submitter spinocerebellar ataxia type 19/22
p.Ile505= Single submitter spinocerebellar ataxia type 19/22
p.Leu124= Single submitter Cardiovascular phenotype
p.Leu183= Single submitter Cardiovascular phenotype
p.Leu216= Single submitter Cardiovascular phenotype
p.Leu242= Single submitter Cardiovascular phenotype
p.Leu243= Single submitter Cardiovascular phenotype
p.Leu274= Single submitter Cardiovascular phenotype
p.Leu307= Single submitter Cardiovascular phenotype
p.Leu310= Single submitter spinocerebellar ataxia type 19/22
p.Leu321= Single submitter Cardiovascular phenotype
p.Leu324= Single submitter Cardiovascular phenotype
p.Leu389= Single submitter spinocerebellar ataxia type 19/22
p.Leu393= Single submitter Cardiovascular phenotype
p.Leu442= Single submitter spinocerebellar ataxia type 19/22
p.Leu471= Single submitter spinocerebellar ataxia type 19/22
p.Leu483= Single submitter spinocerebellar ataxia type 19/22
p.Leu497= Single submitter spinocerebellar ataxia type 19/22
p.Leu536= Single submitter Cardiovascular phenotype
p.Leu562= Single submitter Cardiovascular phenotype
p.Leu567= Single submitter spinocerebellar ataxia type 19/22
p.Leu586= Single submitter Cardiovascular phenotype
p.Leu601= Single submitter spinocerebellar ataxia type 19/22
p.Leu9= Single submitter Cardiovascular phenotype
p.Lys102= Single submitter Cardiovascular phenotype
p.Lys137= Single submitter Cardiovascular phenotype
p.Lys140Asn Single submitter Cardiovascular phenotype ⚠
p.Lys350= Single submitter spinocerebellar ataxia type 19/22
p.Lys467= Single submitter Cardiovascular phenotype
p.Lys553= Single submitter Cardiovascular phenotype
p.Phe11= Single submitter Cardiovascular phenotype
p.Phe227= Single submitter Cardiovascular phenotype
p.Phe300= Single submitter Cardiovascular phenotype
p.Phe406= Single submitter Cardiovascular phenotype
p.Phe74= Single submitter Cardiovascular phenotype
p.Phe97= Single submitter Cardiovascular phenotype
p.Pro125= Single submitter Cardiovascular phenotype
p.Pro206= Single submitter Cardiovascular phenotype
p.Pro21= Single submitter Cardiovascular phenotype
p.Pro28= Single submitter spinocerebellar ataxia type 19/22
p.Pro31= Single submitter Cardiovascular phenotype
p.Pro355= Single submitter spinocerebellar ataxia type 19/22
p.Pro375= Single submitter Cardiovascular phenotype
p.Pro398= Single submitter spinocerebellar ataxia type 19/22
p.Pro534= Single submitter Cardiovascular phenotype
p.Pro540= Single submitter Cardiovascular phenotype
p.Pro558= Single submitter Cardiovascular phenotype
p.Pro563= Single submitter Cardiovascular phenotype
p.Pro618= Single submitter Cardiovascular phenotype
p.Pro62= Single submitter spinocerebellar ataxia type 19/22
p.Pro632Leu Single submitter spinocerebellar ataxia type 19/22
p.Pro636= Single submitter Cardiovascular phenotype
p.Ser112= Single submitter Cardiovascular phenotype
p.Ser153= Single submitter Cardiovascular phenotype
p.Ser162= Single submitter spinocerebellar ataxia type 19/22
p.Ser196= Single submitter Cardiovascular phenotype
p.Ser223= Single submitter Cardiovascular phenotype
p.Ser260= Single submitter Cardiovascular phenotype
p.Ser283= Single submitter Cardiovascular phenotype
p.Ser301= Single submitter Cardiovascular phenotype
p.Ser304= Single submitter Cardiovascular phenotype
p.Ser327= Single submitter Cardiovascular phenotype
p.Ser347= Single submitter Cardiovascular phenotype
p.Ser357= Single submitter Cardiovascular phenotype
p.Ser47= Single submitter Cardiovascular phenotype
p.Ser503= Single submitter spinocerebellar ataxia type 19/22
p.Ser560= Single submitter Cardiovascular phenotype
p.Ser581= Single submitter spinocerebellar ataxia type 19/22
p.Thr168= Single submitter Cardiovascular phenotype
p.Thr180= Single submitter Cardiovascular phenotype
p.Thr204= Single submitter Cardiovascular phenotype
p.Thr238= Single submitter Cardiovascular phenotype
p.Thr288= Single submitter Cardiovascular phenotype
p.Thr313= Single submitter Cardiovascular phenotype
p.Thr366= Single submitter spinocerebellar ataxia type 19/22
p.Thr367= Single submitter Cardiovascular phenotype
p.Thr486= Single submitter spinocerebellar ataxia type 19/22
p.Thr502= Single submitter Cardiovascular phenotype
p.Thr504= Single submitter Cardiovascular phenotype
p.Thr543= Single submitter Cardiovascular phenotype
p.Thr565= Single submitter Cardiovascular phenotype
p.Thr56Ser Single submitter spinocerebellar ataxia type 19/22
p.Thr607= Single submitter spinocerebellar ataxia type 19/22
p.Thr611= Single submitter spinocerebellar ataxia type 19/22
p.Thr69= Single submitter
p.Tyr105= Single submitter Cardiovascular phenotype
p.Tyr121= Single submitter Cardiovascular phenotype
p.Tyr186= Single submitter Cardiovascular phenotype
p.Tyr270= Single submitter Cardiovascular phenotype
p.Tyr312= Single submitter spinocerebellar ataxia type 19/22
p.Tyr528= Single submitter Cardiovascular phenotype
p.Tyr82= Single submitter spinocerebellar ataxia type 19/22
p.Tyr98= Single submitter Cardiovascular phenotype
p.Val184= Single submitter Cardiovascular phenotype
p.Val210= Single submitter Cardiovascular phenotype
p.Val239= Single submitter
p.Val258= Single submitter Cardiovascular phenotype
p.Val338= Single submitter Cardiovascular phenotype
p.Val493= Single submitter Cardiovascular phenotype
p.Val650= Single submitter spinocerebellar ataxia type 19/22
p.Val90= Single submitter Cardiovascular phenotype
p.Val94= Single submitter Cardiovascular phenotype
p.Glu463= No assertion criteria KCND3-related disorder

Uncertain significance 320

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

p.Ala144Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala144Val Multiple submitters ⚠
p.Ala15Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala172Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala30Asp Multiple submitters Cardiovascular phenotype ⚠
p.Ala348Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala622Ser Multiple submitters spinocerebellar ataxia type 19/22 ⚠
p.Ala654Thr Multiple submitters Cardiovascular phenotype ⚠
p.Arg13Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg166Cys Multiple submitters ⚠
p.Arg293His Multiple submitters Cardiovascular phenotype ⚠
p.Arg408Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg419His Multiple submitters Cardiovascular phenotype ⚠
p.Arg426Cys Multiple submitters spinocerebellar ataxia type 19/22 ⚠
p.Arg426His Multiple submitters Cardiovascular phenotype ⚠
p.Arg431Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg501Ter Multiple submitters Cardiovascular phenotype
p.Arg566His Multiple submitters Cardiovascular phenotype ⚠
p.Arg630Trp Multiple submitters Cardiovascular phenotype ⚠
p.Asp116Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp149Gly Multiple submitters Cardiovascular phenotype ⚠
p.Asp150Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asp33Val Multiple submitters spinocerebellar ataxia type 19/22 ⚠
p.Asp512Ala Multiple submitters spinocerebellar ataxia type 19/22 ⚠
p.Asp512Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp599Asn Multiple submitters Cardiovascular phenotype ⚠
p.Glu145Lys Multiple submitters Cardiovascular phenotype ⚠
p.Glu280Lys Multiple submitters spinocerebellar ataxia type 19/22
p.Glu463Lys Multiple submitters spinocerebellar ataxia type 19/22 ⚠
p.Glu473Asp Multiple submitters spinocerebellar ataxia type 19/22 ⚠
p.Glu517Gln Multiple submitters Cardiovascular phenotype ⚠
p.Glu522Lys Multiple submitters spinocerebellar ataxia type 19/22 ⚠
p.Gly208Ser Multiple submitters spinocerebellar ataxia type 19/22 ⚠
p.Gly306Asp Multiple submitters spinocerebellar ataxia type 19/22 ⚠
p.Gly380Glu Multiple submitters ⚠
p.Gly627Arg Multiple submitters Cardiovascular phenotype ⚠
p.Gly637Asp Multiple submitters Cardiovascular phenotype ⚠
p.His476Arg Multiple submitters spinocerebellar ataxia type 19/22 ⚠
p.Ile617Val Multiple submitters Cardiovascular phenotype ⚠
p.Ile642Phe Multiple submitters Cardiovascular phenotype ⚠
p.Leu216Arg Multiple submitters Cardiovascular phenotype ⚠
p.Leu289Arg Multiple submitters Cardiovascular phenotype ⚠
p.Leu449Phe Multiple submitters spinocerebellar ataxia type 19/22 ⚠
p.Leu471Phe Multiple submitters ⚠
p.Lys315Glu Multiple submitters ⚠
p.Met160Val Multiple submitters spinocerebellar ataxia type 19/22 ⚠
p.Met465Val Multiple submitters spinocerebellar ataxia type 19/22 ⚠
p.Pro28Thr Multiple submitters spinocerebellar ataxia type 19/22 ⚠
p.Pro31Ser Multiple submitters spinocerebellar ataxia type 19/22 ⚠
p.Pro534Thr Multiple submitters Brugada syndrome 9 ⚠
p.Pro620His Multiple submitters Cardiovascular phenotype ⚠
p.Pro621Ala Multiple submitters Cardiovascular phenotype ⚠
p.Pro625Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ser162Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ser357Trp Multiple submitters hereditary ataxia ⚠
p.Ser438Leu Multiple submitters ⚠
p.Ser490Cys Multiple submitters spinocerebellar ataxia type 19/22 ⚠
p.Ser499Cys Multiple submitters spinocerebellar ataxia type 19/22 ⚠
p.Ser608Pro Multiple submitters Cardiovascular phenotype ⚠
p.Thr178Ile Multiple submitters Cardiovascular phenotype ⚠
p.Thr189Ser Multiple submitters Cardiovascular phenotype ⚠
p.Thr457= Multiple submitters Cardiovascular phenotype
p.Thr457Ala Multiple submitters spinocerebellar ataxia type 19/22 ⚠
p.Thr545Ile Multiple submitters spinocerebellar ataxia type 19/22 ⚠
p.Thr619Ile Multiple submitters Cardiovascular phenotype ⚠
p.Val258Ile Multiple submitters Cardiovascular phenotype ⚠
p.Val264Met Multiple submitters spinocerebellar ataxia type 19/22 ⚠
p.Val649Ala Multiple submitters Cardiovascular phenotype ⚠
c.1107-5C>A Single submitter Cardiovascular phenotype
c.1269+6C>T Single submitter spinocerebellar ataxia type 19/22
c.1371+4G>C Single submitter spinocerebellar ataxia type 19/22
c.1371+5G>T Single submitter spinocerebellar ataxia type 19/22
c.1462-5T>C Single submitter Cardiovascular phenotype
c.1518+4T>C Single submitter spinocerebellar ataxia type 19/22
c.-1C>T Single submitter
c.*15G>A Single submitter
p.Ala113Val Single submitter Cardiovascular phenotype ⚠
p.Ala119Asp Single submitter ⚠
p.Ala144Pro Single submitter Cardiovascular phenotype ⚠
p.Ala15Thr Single submitter ⚠
p.Ala194Thr Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Ala247Ser Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Ala247Thr Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Ala247Val Single submitter ⚠
p.Ala356Ser Single submitter ⚠
p.Ala396Val Single submitter ⚠
p.Ala3Gly Single submitter ⚠
p.Ala428Thr Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Ala440Thr Single submitter ⚠
p.Ala622Glu Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Ala634Thr Single submitter ⚠
p.Ala646Asp Single submitter ⚠
p.Ala6Val Single submitter ⚠
p.Arg107His Single submitter Cardiovascular phenotype ⚠
p.Arg107Ser Single submitter Cardiovascular phenotype ⚠
p.Arg146Trp Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Arg166His Single submitter Cardiovascular phenotype ⚠
p.Arg171Trp Single submitter ⚠
p.Arg244Gln Single submitter ⚠
p.Arg253Cys Single submitter ⚠
p.Arg308Pro Single submitter
p.Arg37Gln Single submitter ⚠
p.Arg37Pro Single submitter spinocerebellar ataxia type 19/22
p.Arg408Trp Single submitter Cardiovascular phenotype ⚠
p.Arg419Cys Single submitter Cardiovascular phenotype ⚠
p.Arg431Leu Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Arg431Pro Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Arg446Cys Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Arg446His Single submitter Cardiovascular phenotype ⚠
p.Arg49Gln Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Arg501Gln Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Arg50Lys Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Arg55Ser Single submitter ⚠
p.Arg568Pro Single submitter Cardiovascular phenotype ⚠
p.Arg590Cys Single submitter Cardiovascular phenotype ⚠
p.Arg60Cys Single submitter Cardiovascular phenotype ⚠
p.Arg60Leu Single submitter Cardiovascular phenotype ⚠
p.Arg86Gln Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Arg86Gly Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Arg92Ser Single submitter Cardiovascular phenotype ⚠
p.Arg99Cys Single submitter Cardiovascular phenotype ⚠
p.Arg99Ser Single submitter Cardiovascular phenotype ⚠
p.Asn143Thr Single submitter Cardiovascular phenotype ⚠
p.Asn151Lys Single submitter Cardiovascular phenotype ⚠
p.Asn156Lys Single submitter Cardiovascular phenotype ⚠
p.Asn175Asp Single submitter Cardiovascular phenotype ⚠
p.Asn200Lys Single submitter Cardiovascular phenotype ⚠
p.Asn447Asp Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Asn451His Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Asn451Ser Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Asn559Lys Single submitter Cardiovascular phenotype
p.Asn559Ser Single submitter ⚠
p.Asn648Asp Single submitter Cardiovascular phenotype ⚠
p.Asn648Ser Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Asn648Thr Single submitter ⚠
p.Asp116Glu Single submitter Cardiovascular phenotype ⚠
p.Asp130Asn Single submitter Cardiovascular phenotype ⚠
p.Asp130Tyr Single submitter Cardiovascular phenotype ⚠
p.Asp150Asn Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Asp39Val Single submitter Cardiovascular phenotype ⚠
p.Asp495fs Single submitter Cardiovascular phenotype
p.Asp85His Single submitter ⚠
p.Cys218Trp Single submitter Cardiovascular phenotype ⚠
p.Cys520Tyr Single submitter ⚠
p.Gln579Pro Single submitter Cardiovascular phenotype ⚠
p.Gln583His Single submitter Cardiovascular phenotype ⚠
p.Glu117Gln Single submitter ⚠
p.Glu145Gln Single submitter Cardiovascular phenotype ⚠
p.Glu154Lys Single submitter Cardiovascular phenotype ⚠
p.Glu174Lys Single submitter Cardiovascular phenotype ⚠
p.Glu461Lys Single submitter ⚠
p.Glu462Lys Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Glu473Val Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Glu509Lys Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Glu572Val Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Glu582Gly Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Glu626Gln Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Glu628Gly Single submitter Cardiovascular phenotype ⚠
p.Glu77Lys Single submitter ⚠
p.Glu81Ala Single submitter ⚠
p.Gly129Ala Single submitter spinocerebellar ataxia type 19/22
p.Gly129Arg Single submitter Cardiovascular phenotype ⚠
p.Gly18Arg Single submitter ⚠
p.Gly208Val Single submitter ⚠
p.Gly212Asp Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Gly219Trp Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Gly273Ser Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Gly311= Single submitter
p.Gly345Ser Single submitter Cardiovascular phenotype ⚠
p.Gly391Ser Single submitter ⚠
p.Gly436Asp Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Gly458Ser Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Gly458Val Single submitter Cardiovascular phenotype ⚠
p.Gly48Ala Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Gly541Asp Single submitter Cardiovascular phenotype ⚠
p.Gly580Ser Single submitter Cardiovascular phenotype ⚠
p.Gly600Ala Single submitter ⚠
p.Gly600Glu Single submitter spinocerebellar ataxia type 19/22 ⚠
p.His481Arg Single submitter Cardiovascular phenotype ⚠
p.His481Asn Single submitter spinocerebellar ataxia type 19/22 ⚠
p.His539Asn Single submitter Cardiovascular phenotype ⚠
p.Ile111Met Single submitter Cardiovascular phenotype ⚠
p.Ile123Val Single submitter Cardiovascular phenotype ⚠
p.Ile128Val Single submitter Cardiovascular phenotype ⚠
p.Ile198Val Single submitter Cardiovascular phenotype ⚠
p.Ile262Ser Single submitter ⚠
p.Ile297Val Single submitter Cardiovascular phenotype ⚠
p.Ile332fs Single submitter
p.Ile354Val Single submitter ⚠
p.Ile402Thr Single submitter ⚠
p.Ile409Met Single submitter Brugada syndrome 9 ⚠
p.Ile505Asn Single submitter Cardiovascular phenotype ⚠
p.Ile511Ser Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Ile511Thr Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Ile578Thr Single submitter Cardiovascular phenotype ⚠
p.Ile578Val Single submitter Cardiovascular phenotype ⚠
p.Ile610Thr Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Ile645Thr Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Leu147Phe Single submitter Cardiovascular phenotype ⚠
p.Leu216Met Single submitter Cardiovascular phenotype ⚠
p.Leu229Val Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Leu242Phe Single submitter ⚠
p.Leu307Pro Single submitter ⚠
p.Leu368Met Single submitter ⚠
p.Leu456Met Single submitter Cardiovascular phenotype ⚠
p.Leu471Val Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Leu479Met Single submitter Cardiovascular phenotype ⚠
p.Leu573Phe Single submitter Cardiovascular phenotype ⚠
p.Leu586His Single submitter Cardiovascular phenotype ⚠
p.Leu586Phe Single submitter Cardiovascular phenotype ⚠
p.Leu595Trp Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Lys102Asn Single submitter Cardiovascular phenotype ⚠
p.Lys34Arg Single submitter ⚠
p.Lys350Asn Single submitter
p.Lys36Thr Single submitter Cardiovascular phenotype ⚠
p.Lys80Arg Single submitter Cardiovascular phenotype ⚠
p.Lys80Gln Single submitter Cardiovascular phenotype ⚠
p.Met148Leu Single submitter Cardiovascular phenotype ⚠
p.Met148Thr Single submitter Cardiovascular phenotype ⚠
p.Met169Thr Single submitter Cardiovascular phenotype ⚠
p.Met20Lys Single submitter Cardiovascular phenotype ⚠
p.Met235Thr Single submitter ⚠
p.Met330fs Single submitter
p.Met330Ile Single submitter Cardiovascular phenotype ⚠
p.Met330Thr Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Met339Ile Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Met515Leu Single submitter Cardiovascular phenotype ⚠
p.Met515Thr Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Met515Val Single submitter Cardiovascular phenotype ⚠
p.Met521Val Single submitter Cardiovascular phenotype ⚠
p.Met525Arg Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Met570Thr Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Phe11fs Single submitter spinocerebellar ataxia type 19/22
p.Phe165Leu Single submitter Cardiovascular phenotype ⚠
p.Phe173Leu Single submitter Cardiovascular phenotype ⚠
p.Phe185Leu Single submitter ⚠
p.Phe406Ser Single submitter ⚠
p.Phe73Tyr Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Phe83Ile Single submitter Cardiovascular phenotype ⚠
p.Phe97Leu Single submitter ⚠
p.Pro106Arg Single submitter Cardiovascular phenotype ⚠
p.Pro161Ser Single submitter ⚠
p.Pro269Arg Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Pro28Leu Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Pro31Leu Single submitter ⚠
p.Pro355Leu Single submitter ⚠
p.Pro355Ser Single submitter ⚠
p.Pro375Leu Single submitter Inborn genetic diseases ⚠
p.Pro460Ala Single submitter Cardiovascular phenotype ⚠
p.Pro529Leu Single submitter ⚠
p.Pro534Leu Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Pro558Arg Single submitter Cardiovascular phenotype ⚠
p.Pro558Ser Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Pro631Leu Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Pro631Ser Single submitter Cardiovascular phenotype ⚠
p.Pro632Arg Single submitter Cardiovascular phenotype ⚠
p.Pro632His Single submitter ⚠
p.Pro632Thr Single submitter ⚠
p.Pro633Ser Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Pro633Thr Single submitter Cardiovascular phenotype ⚠
p.Pro638= Single submitter
p.Pro643Leu Single submitter Cardiovascular phenotype ⚠
p.Ser159= Single submitter
p.Ser164Asn Single submitter Cardiovascular phenotype ⚠
p.Ser223Leu Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Ser223Pro Single submitter ⚠
p.Ser327Phe Single submitter ⚠
p.Ser347Leu Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Ser347Trp Single submitter ⚠
p.Ser353Gly Single submitter ⚠
p.Ser357Pro Single submitter ⚠
p.Ser438Trp Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Ser444Thr Single submitter Cardiovascular phenotype ⚠
p.Ser474Arg Single submitter Cardiovascular phenotype
p.Ser503Phe Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Ser503Tyr Single submitter Cardiovascular phenotype ⚠
p.Ser523Asn Single submitter Cardiovascular phenotype ⚠
p.Ser530Thr Single submitter ⚠
p.Ser535Leu Single submitter Cardiovascular phenotype ⚠
p.Ser581Asn Single submitter ⚠
p.Ser581Cys Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Ser585Phe Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Ser591Cys Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Ser629Cys Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Ser653Tyr Single submitter Cardiovascular phenotype ⚠
p.Thr180Met Single submitter Cardiovascular phenotype ⚠
p.Thr209Arg Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Thr231Met Single submitter ⚠
p.Thr238Pro Single submitter ⚠
p.Thr313Ala Single submitter ⚠
p.Thr313Lys Single submitter ⚠
p.Thr352Ala Single submitter ⚠
p.Thr435Ile Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Thr459Asn Single submitter Cardiovascular phenotype ⚠
p.Thr469Ile Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Thr487Ile Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Thr502Ser Single submitter Cardiovascular phenotype ⚠
p.Thr544Ala Single submitter spinocerebellar ataxia type 19/22 ⚠
p.Thr554Ser Single submitter Cardiovascular phenotype ⚠
p.Thr555Arg Single submitter spinocerebellar ataxia type 19/22 ⚠