GABRA1 — 782 ClinVar variants

All ClinVar germline GABRA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 293 flagged for review →

39 Pathogenic · 4 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 76 Conflicting · 44 Benign · 14 Benign/Likely benign · 219 Likely benign · 351 Uncertain significance

Full GABRA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 293

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

Predictors vs ClinVar 3

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

GABRA1 p.Arg2Lys Likely pathogenic Single submitter
idiopathic generalized epilepsy
GABRA1 p.Gln28His Likely pathogenic Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Val110Phe Likely pathogenic Single submitter
developmental and epileptic encephalopathy, 19

Predictors agree, ClinVar conflicts 39

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

GABRA1 p.Ala308Asp Conflicting Single submitter
idiopathic generalized epilepsy
GABRA1 p.Ala369Thr Conflicting Single submitter
idiopathic generalized epilepsy
GABRA1 p.Arg112Trp Conflicting Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Arg147Gly Conflicting Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Arg147Trp Conflicting Single submitter
idiopathic generalized epilepsy
GABRA1 p.Arg204Cys Conflicting Single submitter
Epilepsy, childhood absence 4
GABRA1 p.Arg94Cys Conflicting Single submitter
Inborn genetic diseases
GABRA1 p.Asp314Asn Conflicting Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Asp90His Conflicting Single submitter
idiopathic generalized epilepsy
GABRA1 p.Asp99Gly Conflicting Single submitter
idiopathic generalized epilepsy
GABRA1 p.Asp9Glu Conflicting Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Gly152Ser Conflicting Single submitter
GABRA1 p.Leu267Ile Conflicting Single submitter
idiopathic generalized epilepsy
GABRA1 p.Leu31Phe Conflicting Single submitter
idiopathic generalized epilepsy
GABRA1 p.Leu386Val Conflicting Single submitter
Epilepsy, childhood absence 4
GABRA1 p.Leu49His Conflicting Single submitter
Inborn genetic diseases
GABRA1 p.Lys398Glu Conflicting Single submitter
idiopathic generalized epilepsy
GABRA1 p.Pro29Leu Conflicting Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Pro29Ser Conflicting Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Pro305Leu Conflicting Single submitter
idiopathic generalized epilepsy
GABRA1 p.Pro360His Conflicting Single submitter
idiopathic generalized epilepsy
GABRA1 p.Pro360Leu Conflicting Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Pro377Leu Conflicting Single submitter
developmental and epileptic encephalopathy, 19
GABRA1 p.Pro409Ser Conflicting Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Pro59Leu Conflicting Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Thr157Ile Conflicting Single submitter
GABRA1-related disorder
GABRA1 p.Thr20Ile Conflicting Single submitter
idiopathic generalized epilepsy
GABRA1 p.Thr289Ala Conflicting Single submitter
developmental and epileptic encephalopathy, 19
GABRA1 p.Thr294Arg Conflicting Single submitter
idiopathic generalized epilepsy
GABRA1 p.Thr311Ile Conflicting Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Thr43Ala Conflicting Single submitter
GABRA1 p.Thr66Asn Conflicting Single submitter
idiopathic generalized epilepsy
GABRA1 p.Trp14Cys Conflicting Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Trp97Arg Conflicting Single submitter
GABRA1 p.Tyr438Cys Conflicting Single submitter
GABRA1-related disorder
GABRA1 p.Val270Ala Conflicting Single submitter
developmental and epileptic encephalopathy, 19
GABRA1 p.Val270Gly Conflicting Single submitter
idiopathic generalized epilepsy
GABRA1 p.Val287Ile Conflicting Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Val349Met Conflicting Single submitter
idiopathic generalized epilepsy

Predicted LoF vs a conflicting call 4

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.

GABRA1 c.476+2T>A Conflicting Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 c.857-2A>G Conflicting Single submitter
idiopathic generalized epilepsy
GABRA1 p.Gln32Ter Conflicting Single submitter
idiopathic generalized epilepsy
GABRA1 p.Met263Ter Conflicting Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13

Predictors lean, ClinVar uncertain 211

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 211

GABRA1 p.Arg204His Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRA1 p.Arg24Thr Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 19
GABRA1 p.Arg56His Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 19
GABRA1 p.Arg94His Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRA1 p.Asn275Ser Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRA1 p.Asn366Ser Uncertain significance Multiple submitters
GABRA1 p.Asp420Tyr Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Cys261Arg Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 19
GABRA1 p.Gln32Lys Uncertain significance Multiple submitters
Inborn genetic diseases
GABRA1 p.Glu403Gln Uncertain significance Multiple submitters
Marfanoid habitus and intellectual disability
GABRA1 p.Glu403Lys Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Gly27Arg Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Gly27Glu Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Gly78Arg Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRA1 p.His129Tyr Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Ile433Val Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Leu35Ile Uncertain significance Multiple submitters
Inborn genetic diseases
GABRA1 p.Lys401Arg Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Lys410Arg Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRA1 p.Met85Val Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Pro107His Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Pro29Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GABRA1 p.Pro360Ser Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRA1 p.Pro370Ser Uncertain significance Multiple submitters
developmental and epileptic encephalopathy, 19
GABRA1 p.Pro370Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GABRA1 p.Pro428Leu Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Ser76Gly Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Thr20Pro Uncertain significance Multiple submitters
Inborn genetic diseases
GABRA1 p.Thr264Ala Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRA1 p.Thr394Ala Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRA1 p.Thr394Ile Uncertain significance Multiple submitters
Epilepsy, childhood absence 4
GABRA1 p.Thr412Ser Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Trp12Leu Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRA1 p.Tyr187Cys Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Tyr189His Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Tyr321Cys Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRA1 p.Val162Gly Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRA1 p.Val284Leu Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Val307Ala Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Val319Met Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRA1 p.Val74Ile Uncertain significance Multiple submitters
Epilepsy, childhood absence 4
GABRA1 p.Val80Ile Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRA1 p.Ala13Thr Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Ala164Asp Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Ala177Val Uncertain significance Single submitter
GABRA1 p.Ala281Glu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 19
GABRA1 p.Ala369Val Uncertain significance Single submitter
GABRA1 p.Ala380Pro Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Ala380Val Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Ala387Ser Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Ala387Thr Uncertain significance Single submitter
GABRA1 p.Ala387Val Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Ala451Thr Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Ala451Val Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Arg112Gly Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Arg112Leu Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Arg159Thr Uncertain significance Single submitter
GABRA1 p.Arg163Lys Uncertain significance Single submitter
GABRA1 p.Arg204Leu Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Arg276Ser Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Arg282Thr Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Arg421Gln Uncertain significance Single submitter
Inborn genetic diseases
GABRA1 p.Arg421Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 19
GABRA1 p.Arg64His Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Arg94Ser Uncertain significance Single submitter
GABRA1 p.Asn114Ser Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Asn143Lys Uncertain significance Single submitter
Epilepsy, childhood absence 4
GABRA1 p.Asn335Ile Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Asn365Asp Uncertain significance Single submitter
GABRA1 p.Asp125Gly Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Asp226Gly Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Asp33Asn Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Asp359Glu Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Asp359His Uncertain significance Single submitter
GABRA1 p.Asp383Asn Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Asp420Gly Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Asp82His Uncertain significance Single submitter
GABRA1 p.Asp84His Uncertain significance Single submitter
Epilepsy, childhood absence 4
GABRA1 p.Asp90Gly Uncertain significance Single submitter
Epilepsy, childhood absence 4
GABRA1 p.Asp90Tyr Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Asp9Gly Uncertain significance Single submitter
developmental and epileptic encephalopathy, 19
GABRA1 p.Cys10Ser Uncertain significance Single submitter
GABRA1 p.Cys166Trp Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Gln217Lys Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Gln231Glu Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Gln448Glu Uncertain significance Single submitter
GABRA1 p.Glu201Gly Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Glu277Asp Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Glu277Gln Uncertain significance Single submitter
GABRA1 p.Glu67Lys Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Glu67Val Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Gly185Val Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Gly212Arg Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Gly23Arg Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Gly251Arg Uncertain significance Single submitter
GABRA1 p.Gly286Arg Uncertain significance Single submitter
GABRA1 p.Gly382Asp Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Gly60Ala Uncertain significance Single submitter
epilepsy
GABRA1 p.His178Gln Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.His243Asp Uncertain significance Single submitter
Inborn genetic diseases
GABRA1 p.Ile148Phe Uncertain significance Single submitter
GABRA1 p.Ile148Thr Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Ile15Phe Uncertain significance Single submitter
GABRA1 p.Ile229Val Uncertain significance Single submitter
GABRA1 p.Ile266Thr Uncertain significance Single submitter
GABRA1 p.Ile395Leu Uncertain significance Single submitter
GABRA1 p.Ile395Thr Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Ile425Thr Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Ile433Asn Uncertain significance Single submitter
GABRA1 p.Ile89Val Uncertain significance Single submitter
GABRA1 p.Leu111Pro Uncertain significance Single submitter
Epilepsy, childhood absence 4
GABRA1 p.Leu113Phe Uncertain significance Single submitter
Inborn genetic diseases
GABRA1 p.Leu116Pro Uncertain significance Single submitter
Inborn genetic diseases
GABRA1 p.Leu11Phe Uncertain significance Single submitter
GABRA1 p.Leu154Val Uncertain significance Single submitter
GABRA1 p.Leu155Pro Uncertain significance Single submitter
GABRA1 p.Leu221Pro Uncertain significance Single submitter
GABRA1 p.Leu274Phe Uncertain significance Single submitter
GABRA1 p.Leu304Pro Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Leu328Pro Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Leu328Val Uncertain significance Single submitter
GABRA1 p.Leu361Phe Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Leu386Phe Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Leu46Phe Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Leu46Val Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Leu7Arg Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Lys144Glu Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Lys36Glu Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Lys418Arg Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Lys450Asn Uncertain significance Single submitter
developmental and epileptic encephalopathy, 19
GABRA1 p.Met168Thr Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Met240Ile Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Phe104Leu Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Phe127Val Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Phe128Leu Uncertain significance Single submitter
GABRA1 p.Phe244Leu Uncertain significance Single submitter
developmental and epileptic encephalopathy, 19
GABRA1 p.Phe331Ile Uncertain significance Single submitter
GABRA1 p.Phe413Cys Uncertain significance Single submitter
GABRA1 p.Phe427Ser Uncertain significance Single submitter
GABRA1 p.Phe431Leu Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Phe431Ser Uncertain significance Single submitter
GABRA1 p.Phe434Ser Uncertain significance Single submitter
Inborn genetic diseases
GABRA1 p.Phe73Ile Uncertain significance Single submitter
Epilepsy, childhood absence 4
GABRA1 p.Phe73Ser Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Pro107Leu Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Pro167Leu Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Pro167Ser Uncertain significance Single submitter
GABRA1 p.Pro174Ala Uncertain significance Single submitter
GABRA1 p.Pro174Leu Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Pro305His Uncertain significance Single submitter

Predictors split 36

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

GABRA1 p.Ile72Met Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRA1 p.Leu18Pro Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRA1 p.Met158Ile Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRA1 p.Arg112Gln Conflicting Single submitter
GABRA1-related disorder
GABRA1 p.Arg214Ser Conflicting Single submitter
Epilepsy, childhood absence 4
GABRA1 p.Arg340Ser Conflicting Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Arg340Thr Uncertain significance Single submitter
GABRA1 p.Arg64Leu Uncertain significance Single submitter
GABRA1 p.Arg64Pro Uncertain significance Single submitter
GABRA1 p.Asn216Ile Likely pathogenic Single submitter
developmental and epileptic encephalopathy, 19
GABRA1 p.Asn444Asp Uncertain significance Single submitter
GABRA1 p.Asp71Gly Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Glu150Lys Uncertain significance Single submitter
developmental and epileptic encephalopathy, 19
GABRA1 p.Glu408Asp Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Ile45Thr Likely pathogenic Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Leu145Phe Likely pathogenic Single submitter
GABRA1-related disorder
GABRA1 p.Leu220Phe Uncertain significance Single submitter
Inborn genetic diseases
GABRA1 p.Leu436Phe Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Lys339Arg Uncertain significance Single submitter
GABRA1 p.Lys410Glu Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Lys69Asn Uncertain significance Single submitter
Inborn genetic diseases
GABRA1 p.Met158Val Uncertain significance Single submitter
GABRA1 p.Met168Leu Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Met263Leu Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Phe325Leu Pathogenic Single submitter
idiopathic generalized epilepsy
GABRA1 p.Phe42Leu Likely pathogenic Single submitter
idiopathic generalized epilepsy
GABRA1 p.Phe77Leu Uncertain significance Single submitter
GABRA1 p.Pro409His Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Ser374Arg Uncertain significance Single submitter
GABRA1 p.Ser96Ile Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Thr224Arg Uncertain significance Single submitter
Inborn genetic diseases
GABRA1 p.Thr257Ile Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRA1 p.Tyr187Phe Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Val207Phe Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 13
GABRA1 p.Val284Ala Conflicting Single submitter
GABRA1 p.Met263Ile Likely pathogenic No assertion criteria
developmental and epileptic encephalopathy, 19

All GABRA1 variants

Pathogenic 39

p.Thr294Ile Multiple submitters
p.Val287Leu Multiple submitters developmental and epileptic encephalopathy, 19
c.1059+2T>C Single submitter idiopathic generalized epilepsy
c.255+1G>A Single submitter Inborn genetic diseases
c.560-95_598del Single submitter idiopathic generalized epilepsy
p.Ala312Thr Single submitter
p.Ala327fs Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Ala332Val Single submitter developmental and epileptic encephalopathy, 19
p.Arg340Gly Single submitter
p.Asn275Lys Single submitter idiopathic generalized epilepsy
p.Cys320fs Single submitter Inborn genetic diseases
p.Glu277Gly Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Glu67Ter Single submitter Inborn genetic diseases
p.Gly251Asp Single submitter
p.Gly251Ser Single submitter idiopathic generalized epilepsy
p.Leu215Pro Single submitter
p.Lys306Asn Single submitter developmental and epileptic encephalopathy, 19
p.Lys401fs Single submitter developmental and epileptic encephalopathy, 19
p.Met263Lys Single submitter
p.Met263Val Single submitter Inborn genetic diseases
p.Phe128Ter Single submitter
p.Phe272fs Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Phe285Leu Single submitter
p.Phe325Leu Single submitter idiopathic generalized epilepsy ⚠
p.Phe92Ser Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Pro260Ala Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Pro280Gln Single submitter idiopathic generalized epilepsy
p.Thr288Ile Single submitter idiopathic generalized epilepsy
p.Thr289Pro Single submitter
p.Thr292Ile Single submitter idiopathic generalized epilepsy
p.Thr292Ser Single submitter
p.Trp122Ter Single submitter idiopathic generalized epilepsy
p.Trp315Ter Single submitter Epilepsy, childhood absence 4
p.Tyr187Asp Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Tyr252Cys Single submitter idiopathic generalized epilepsy
p.Val357fs Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Arg301Lys No assertion criteria developmental and epileptic encephalopathy, 19
p.Lys306Thr No assertion criteria developmental and epileptic encephalopathy, 19
p.Lys339Glu No assertion criteria developmental and epileptic encephalopathy, 19

Pathogenic/Likely pathogenic 4

p.Arg147Gln Multiple submitters Epilepsy, childhood absence 4
p.Arg214Cys Multiple submitters GABRA1-related disorder
p.Arg214His Multiple submitters GABRA1-related disorder
p.Val290fs Multiple submitters idiopathic generalized epilepsy

Likely pathogenic 35

c.256-2A>G Multiple submitters idiopathic generalized epilepsy
p.Ala308Thr Multiple submitters intellectual disability
p.Arg56Cys Multiple submitters Inborn genetic diseases
p.Pro280Leu Multiple submitters developmental and epileptic encephalopathy, 19
p.Thr295Ile Multiple submitters idiopathic generalized epilepsy
c.256-1G>A Single submitter Epilepsy, childhood absence 4
c.476+2_476+6del Single submitter GABRA1-related disorder
p.Ala188Asp Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Ala318Val Single submitter developmental and epileptic encephalopathy, 19
p.Arg2Lys Single submitter idiopathic generalized epilepsy ⚠
p.Asn216Ile Single submitter developmental and epileptic encephalopathy, 19 ⚠
p.Asn335His Single submitter
p.Asp90Asn Single submitter juvenile myoclonic epilepsy
p.Asp90Val Single submitter developmental and epileptic encephalopathy, 19
p.Gln28His Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Ile255Phe Single submitter developmental and epileptic encephalopathy, 19
p.Ile45Thr Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Leu145Phe Single submitter GABRA1-related disorder ⚠
p.Leu215Ile Single submitter developmental and epileptic encephalopathy, 19
p.Leu267Phe Single submitter idiopathic generalized epilepsy
p.Leu296Phe Single submitter intellectual disability
p.Met263Thr Single submitter Epilepsy, childhood absence 4
p.Phe42Leu Single submitter idiopathic generalized epilepsy ⚠
p.Pro124Leu Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Pro260Ser Single submitter GABRA1-related disorder
p.Ser213Thr Single submitter Epilepsy, childhood absence 4
p.Ser297Arg Single submitter
p.Ser76Cys Single submitter developmental and epileptic encephalopathy, 19
p.Thr294Lys Single submitter developmental and epileptic encephalopathy, 19
p.Trp344Gly Single submitter
p.Tyr196Cys Single submitter Inborn genetic diseases
p.Val110Phe Single submitter developmental and epileptic encephalopathy, 19 ⚠
p.Val279Leu Single submitter Epileptic encephalopathy
p.Val290Met Single submitter
p.Met263Ile No assertion criteria developmental and epileptic encephalopathy, 19 ⚠

Conflicting classifications of pathogenicity 76

c.187+8G>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.255+12C>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.476+2T>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
c.477-14A>G Single submitter idiopathic generalized epilepsy
c.703+8C>A Single submitter idiopathic generalized epilepsy
c.704-10T>C Single submitter idiopathic generalized epilepsy
c.856+11A>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.857-2A>G Single submitter idiopathic generalized epilepsy ⚠
c.857-5T>C Single submitter idiopathic generalized epilepsy
c.-117GACTCG[3] Single submitter
c.-16+8C>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.-252T>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.-258T>C Single submitter developmental and epileptic encephalopathy, 19
c.-447G>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.-449G>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1381T>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1752G>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*2T>A Single submitter
c.*771C>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*988A>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Ala13= Single submitter Epilepsy, childhood absence 4
p.Ala308Asp Single submitter idiopathic generalized epilepsy ⚠
p.Ala318= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Ala369Thr Single submitter idiopathic generalized epilepsy ⚠
p.Arg112Gln Single submitter GABRA1-related disorder ⚠
p.Arg112Trp Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Arg147= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Arg147Gly Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Arg147Trp Single submitter idiopathic generalized epilepsy ⚠
p.Arg204= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Arg204Cys Single submitter Epilepsy, childhood absence 4 ⚠
p.Arg214Ser Single submitter Epilepsy, childhood absence 4 ⚠
p.Arg340Ser Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Arg94Cys Single submitter Inborn genetic diseases ⚠
p.Asp314Asn Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Asp90His Single submitter idiopathic generalized epilepsy ⚠
p.Asp99Gly Single submitter idiopathic generalized epilepsy ⚠
p.Asp9Glu Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Gln32= Single submitter Epilepsy, childhood absence 4
p.Gln32Ter Single submitter idiopathic generalized epilepsy ⚠
p.Gly152Ser Single submitter ⚠
p.Gly385= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Leu267Ile Single submitter idiopathic generalized epilepsy ⚠
p.Leu31Phe Single submitter idiopathic generalized epilepsy ⚠
p.Leu386Val Single submitter Epilepsy, childhood absence 4 ⚠
p.Leu49His Single submitter Inborn genetic diseases ⚠
p.Lys398Glu Single submitter idiopathic generalized epilepsy ⚠
p.Lys450= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Met263Ter Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Pro167= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Pro29Leu Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Pro29Ser Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Pro305Leu Single submitter idiopathic generalized epilepsy ⚠
p.Pro360His Single submitter idiopathic generalized epilepsy ⚠
p.Pro360Leu Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Pro377Leu Single submitter developmental and epileptic encephalopathy, 19 ⚠
p.Pro409Ser Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Pro59Leu Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Ser25= Single submitter idiopathic generalized epilepsy
p.Thr157Ile Single submitter GABRA1-related disorder ⚠
p.Thr20Ile Single submitter idiopathic generalized epilepsy ⚠
p.Thr224= Single submitter idiopathic generalized epilepsy
p.Thr289Ala Single submitter developmental and epileptic encephalopathy, 19 ⚠
p.Thr294Arg Single submitter idiopathic generalized epilepsy ⚠
p.Thr311Ile Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Thr43Ala Single submitter ⚠
p.Thr441= Single submitter Epilepsy, childhood absence 4
p.Thr66Asn Single submitter idiopathic generalized epilepsy ⚠
p.Trp14Cys Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Trp97Arg Single submitter ⚠
p.Tyr438Cys Single submitter GABRA1-related disorder ⚠
p.Val270Ala Single submitter developmental and epileptic encephalopathy, 19 ⚠
p.Val270Gly Single submitter idiopathic generalized epilepsy ⚠
p.Val284Ala Single submitter ⚠
p.Val287Ile Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Val349Met Single submitter idiopathic generalized epilepsy ⚠

Benign 44

c.1059+15G>A Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13
c.188-42C>T Multiple submitters
c.559+80G>A Multiple submitters
c.703+45T>G Multiple submitters
c.857-18T>C Multiple submitters idiopathic generalized epilepsy
c.-142A>G Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13
c.-31C>T Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13
c.-441A>G Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13
p.Glu277= Multiple submitters idiopathic generalized epilepsy
p.Gly52= Multiple submitters Epilepsy, childhood absence 4
c.1060-245C>T Single submitter
c.187+186A>T Single submitter
c.255+285C>T Single submitter
c.256-134C>T Single submitter
c.256-15dup Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.256-193T>A Single submitter
c.256-201A>T Single submitter
c.256-203A>G Single submitter
c.256-221A>G Single submitter
c.560-169del Single submitter
c.560-261A>G Single submitter
c.703+295A>G Single submitter
c.704-134C>T Single submitter
c.704-247T>C Single submitter
c.75-315del Single submitter
c.856+76A>G Single submitter
c.857-3C>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.-15-20C>T Single submitter
c.-16+112GA[8] Single submitter
c.-16+137GAGC[5] Single submitter
c.-16+851T>A Single submitter
c.-257T>C Single submitter
c.-266G>T Single submitter
c.*1506A>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1929T>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*470A>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Cys10Arg Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Glu446Gly Single submitter idiopathic generalized epilepsy
p.Lys3Arg Single submitter Epilepsy, childhood absence 4
p.Met108Val Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Met141Arg Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Pro79Thr Single submitter idiopathic generalized epilepsy
p.Thr242Ile Single submitter Epilepsy, childhood absence 4
p.Thr367Ser Single submitter epilepsy, idiopathic generalized, susceptibility to, 13

Benign/Likely benign 14

c.1060-15T>C Multiple submitters
c.74+16del Multiple submitters idiopathic generalized epilepsy
c.74+19A>G Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13
c.74+9A>T Multiple submitters Epilepsy, childhood absence 4
c.75-4dup Multiple submitters idiopathic generalized epilepsy
c.857-9del Multiple submitters idiopathic generalized epilepsy
c.857-9dup Multiple submitters idiopathic generalized epilepsy
c.-4C>T Multiple submitters
c.-53C>A Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13
p.Asp211= Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13
p.Ile362= Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13
p.Pro428= Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13
p.Ser233= Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13
p.Ser4Asn Multiple submitters idiopathic generalized epilepsy

Likely benign 219

c.1059+8C>A Multiple submitters idiopathic generalized epilepsy
c.476+16C>T Multiple submitters idiopathic generalized epilepsy
c.476+19C>T Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13
c.477-5T>C Multiple submitters idiopathic generalized epilepsy
c.559+19A>G Multiple submitters Epilepsy, childhood absence 4
c.703+18A>G Multiple submitters idiopathic generalized epilepsy
c.703+8C>T Multiple submitters idiopathic generalized epilepsy
c.704-17T>G Multiple submitters idiopathic generalized epilepsy
c.74+10C>T Multiple submitters idiopathic generalized epilepsy
c.75-11T>C Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13
c.-248+10C>T Multiple submitters
c.*937C>A Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13
p.Ala136= Multiple submitters idiopathic generalized epilepsy
p.Ala192= Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13
p.Ala322= Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13
p.Arg282= Multiple submitters idiopathic generalized epilepsy
p.Asn130= Multiple submitters Epilepsy, childhood absence 4
p.Asp151= Multiple submitters Epilepsy, childhood absence 4
p.Asp99= Multiple submitters idiopathic generalized epilepsy
p.His243= Multiple submitters idiopathic generalized epilepsy
p.Ile15= Multiple submitters
p.Ile419= Multiple submitters Inborn genetic diseases
p.Leu11Pro Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13
p.Leu160= Multiple submitters idiopathic generalized epilepsy
p.Leu291= Multiple submitters Epilepsy, childhood absence 4
p.Leu296= Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13
p.Leu449= Multiple submitters idiopathic generalized epilepsy
p.Phe128= Multiple submitters idiopathic generalized epilepsy
p.Phe77= Multiple submitters idiopathic generalized epilepsy
p.Pro29= Multiple submitters Epilepsy, childhood absence 4
p.Ser96= Multiple submitters idiopathic generalized epilepsy
p.Thr126= Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13
p.Thr333= Multiple submitters idiopathic generalized epilepsy
p.Tyr26= Multiple submitters Epilepsy, childhood absence 4
p.Tyr309= Multiple submitters idiopathic generalized epilepsy
p.Tyr368= Multiple submitters idiopathic generalized epilepsy
p.Tyr87= Multiple submitters Epilepsy, childhood absence 4
p.Val324= Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13
c.1059+120C>T Single submitter
c.1059+14T>C Single submitter idiopathic generalized epilepsy
c.1059+7G>A Single submitter idiopathic generalized epilepsy
c.1059+8C>G Single submitter idiopathic generalized epilepsy
c.1060-10del Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.1060-14C>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.187+16G>A Single submitter
c.187+16G>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.187+5G>T Single submitter idiopathic generalized epilepsy
c.188-12C>G Single submitter idiopathic generalized epilepsy
c.188-14T>C Single submitter idiopathic generalized epilepsy
c.188-15T>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.188-19C>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.188-9C>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.188-9C>T Single submitter idiopathic generalized epilepsy
c.255+10C>A Single submitter idiopathic generalized epilepsy
c.255+12C>G Single submitter idiopathic generalized epilepsy
c.255+13T>C Single submitter
c.255+14_255+15del Single submitter idiopathic generalized epilepsy
c.255+17T>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.255+8G>A Single submitter idiopathic generalized epilepsy
c.255+9A>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.256-19A>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.256-4C>T Single submitter idiopathic generalized epilepsy
c.256-9A>T Single submitter Epilepsy, childhood absence 4
c.476+13G>A Single submitter idiopathic generalized epilepsy
c.476+14C>T Single submitter idiopathic generalized epilepsy
c.476+17T>C Single submitter Epilepsy, childhood absence 4
c.477-14_477-13del Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.477-15T>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.477-6C>T Single submitter
c.477-7C>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.559+12T>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.559+14T>C Single submitter
c.559+155A>G Single submitter
c.559+15A>G Single submitter idiopathic generalized epilepsy
c.559+16T>C Single submitter idiopathic generalized epilepsy
c.559+18G>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.559+20C>T Single submitter idiopathic generalized epilepsy
c.560-12G>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.560-13T>C Single submitter Epilepsy, childhood absence 4
c.560-15A>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.560-9del Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.560-9T>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.703+15G>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.703+9G>A Single submitter idiopathic generalized epilepsy
c.703+9G>T Single submitter
c.704-14G>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.704-18G>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.74+10C>G Single submitter idiopathic generalized epilepsy
c.74+13T>A Single submitter Epilepsy, childhood absence 4
c.74+16T>A Single submitter idiopathic generalized epilepsy
c.74+9A>C Single submitter Epilepsy, childhood absence 4
c.74+9A>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.75-13T>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.75-14_75-13del Single submitter idiopathic generalized epilepsy
c.75-17T>G Single submitter idiopathic generalized epilepsy
c.75-18C>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.75-18C>G Single submitter Epilepsy, childhood absence 4
c.75-7T>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.75-8T>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.856+8C>T Single submitter idiopathic generalized epilepsy
c.856+90del Single submitter
c.857-10T>A Single submitter idiopathic generalized epilepsy
c.857-17T>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.857-17T>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.857-18T>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.857-20del Single submitter idiopathic generalized epilepsy
c.857-8C>T Single submitter idiopathic generalized epilepsy
c.-113C>T Single submitter
c.-15-23T>A Single submitter
c.-15-25G>T Single submitter
c.-15-327G>C Single submitter
c.-15-9A>T Single submitter
c.-16+15G>A Single submitter
c.-16+18C>G Single submitter
c.-19_-18del Single submitter
c.-19T>C Single submitter
c.-241A>T Single submitter
c.-243A>G Single submitter
c.-247C>T Single submitter
c.-24G>C Single submitter
c.-263A>G Single submitter
c.-438del Single submitter
c.-442dup Single submitter
c.-446G>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.-6C>G Single submitter
c.*1823del Single submitter
c.*304del Single submitter
p.Ala177= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Ala179= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Ala209= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Ala300= Single submitter Epilepsy, childhood absence 4
p.Ala343= Single submitter idiopathic generalized epilepsy
p.Ala369Ser Single submitter
p.Ala393= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Arg101= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Arg340= Single submitter idiopathic generalized epilepsy
p.Arg421= Single submitter idiopathic generalized epilepsy
p.Asn138= Single submitter
p.Asn143= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Asn302= Single submitter idiopathic generalized epilepsy
p.Asn435= Single submitter idiopathic generalized epilepsy
p.Asp420= Single submitter idiopathic generalized epilepsy
p.Asp51= Single submitter idiopathic generalized epilepsy
p.Gln217= Single submitter idiopathic generalized epilepsy
p.Gln256= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Gln28= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Glu171= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Glu193= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Glu236= Single submitter idiopathic generalized epilepsy
p.Glu67= Single submitter idiopathic generalized epilepsy
p.Glu86= Single submitter idiopathic generalized epilepsy
p.Gly106= Single submitter Inborn genetic diseases
p.Gly251= Single submitter idiopathic generalized epilepsy
p.Gly382= Single submitter idiopathic generalized epilepsy
p.Gly6= Single submitter idiopathic generalized epilepsy
p.His455= Single submitter idiopathic generalized epilepsy
p.His83= Single submitter
p.Ile121= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Ile317Thr Single submitter idiopathic generalized epilepsy
p.Ile433= Single submitter
p.Ile72= Single submitter idiopathic generalized epilepsy
p.Leu11= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Leu111= Single submitter Epilepsy, childhood absence 4
p.Leu116= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Leu145= Single submitter idiopathic generalized epilepsy
p.Leu155= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Leu16= Single submitter idiopathic generalized epilepsy
p.Leu259= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Leu274= Single submitter idiopathic generalized epilepsy
p.Leu35= Single submitter
p.Leu422= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Leu430= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Leu443= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Leu49= Single submitter Epilepsy, childhood absence 4
p.Leu50= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Lys132= Single submitter idiopathic generalized epilepsy
p.Lys355= Single submitter idiopathic generalized epilepsy
p.Lys356= Single submitter idiopathic generalized epilepsy
p.Phe244= Single submitter idiopathic generalized epilepsy
p.Phe272= Single submitter idiopathic generalized epilepsy
p.Phe413= Single submitter idiopathic generalized epilepsy
p.Phe73= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Pro107= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Pro124= Single submitter idiopathic generalized epilepsy
p.Pro174= Single submitter idiopathic generalized epilepsy
p.Pro181= Single submitter
p.Pro280= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Pro384= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Pro384Leu Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Pro397= Single submitter idiopathic generalized epilepsy
p.Pro402= Single submitter idiopathic generalized epilepsy
p.Pro406= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Pro454Ser Single submitter idiopathic generalized epilepsy
p.Pro79= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Ser278= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Ser326= Single submitter idiopathic generalized epilepsy
p.Ser417= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Thr109= Single submitter
p.Thr149= Single submitter idiopathic generalized epilepsy
p.Thr153= Single submitter idiopathic generalized epilepsy
p.Thr234Ile Single submitter
p.Thr241= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Thr289= Single submitter idiopathic generalized epilepsy
p.Thr292= Single submitter
p.Thr295= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Thr388= Single submitter idiopathic generalized epilepsy
p.Thr404= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Thr66= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Thr75= Single submitter idiopathic generalized epilepsy
p.Tyr252= Single submitter idiopathic generalized epilepsy
p.Tyr336= Single submitter idiopathic generalized epilepsy
p.Tyr342= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Val194= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Val208= Single submitter idiopathic generalized epilepsy
p.Val265= Single submitter
p.Val334= Single submitter Inborn genetic diseases
p.Val357= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.857-10_857-9dup No assertion criteria GABRA1-related disorder
p.Trp439Arg No assertion criteria Neurodevelopmental abnormality

Uncertain significance 351

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

p.Arg204His Multiple submitters idiopathic generalized epilepsy ⚠
p.Arg24Thr Multiple submitters developmental and epileptic encephalopathy, 19 ⚠
p.Arg56His Multiple submitters developmental and epileptic encephalopathy, 19 ⚠
p.Arg64Cys Multiple submitters idiopathic generalized epilepsy
p.Arg94His Multiple submitters idiopathic generalized epilepsy ⚠
p.Asn138Ser Multiple submitters idiopathic generalized epilepsy
p.Asn275Ser Multiple submitters idiopathic generalized epilepsy ⚠
p.Asn366Ser Multiple submitters ⚠
p.Asp420Tyr Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Cys261Arg Multiple submitters developmental and epileptic encephalopathy, 19 ⚠
p.Gln32Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu403Gln Multiple submitters Marfanoid habitus and intellectual disability ⚠
p.Glu403Lys Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Glu63Ala Multiple submitters idiopathic generalized epilepsy
p.Gly27Arg Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Gly27Glu Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Gly78Arg Multiple submitters idiopathic generalized epilepsy ⚠
p.His129Arg Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13
p.His129Tyr Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Ile433Val Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Ile72Met Multiple submitters idiopathic generalized epilepsy ⚠
p.Leu18Pro Multiple submitters idiopathic generalized epilepsy ⚠
p.Leu35Ile Multiple submitters Inborn genetic diseases ⚠
p.Lys401Arg Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Lys410Arg Multiple submitters idiopathic generalized epilepsy ⚠
p.Met158Ile Multiple submitters idiopathic generalized epilepsy ⚠
p.Met85Val Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Pro107His Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Pro29Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro360Ser Multiple submitters idiopathic generalized epilepsy ⚠
p.Pro370Ser Multiple submitters developmental and epileptic encephalopathy, 19 ⚠
p.Pro370Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro428Leu Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Ser76Gly Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Thr20Pro Multiple submitters Inborn genetic diseases ⚠
p.Thr264Ala Multiple submitters idiopathic generalized epilepsy ⚠
p.Thr394Ala Multiple submitters idiopathic generalized epilepsy ⚠
p.Thr394Ile Multiple submitters Epilepsy, childhood absence 4 ⚠
p.Thr412Ser Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Thr441Met Multiple submitters idiopathic generalized epilepsy
p.Trp12Leu Multiple submitters idiopathic generalized epilepsy ⚠
p.Tyr187Cys Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Tyr189His Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Tyr321Cys Multiple submitters idiopathic generalized epilepsy ⚠
p.Val162Gly Multiple submitters idiopathic generalized epilepsy ⚠
p.Val284Leu Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Val307Ala Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Val319Met Multiple submitters idiopathic generalized epilepsy ⚠
p.Val74Ile Multiple submitters Epilepsy, childhood absence 4 ⚠
p.Val80Ile Multiple submitters idiopathic generalized epilepsy ⚠
c.187+5G>A Single submitter
c.256-5C>G Single submitter
c.476+6G>A Single submitter idiopathic generalized epilepsy
c.560-20T>C Single submitter
c.703+1G>T Single submitter
c.703+5G>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.74+3_74+4delinsAT Single submitter idiopathic generalized epilepsy
c.74+4G>A Single submitter Inborn genetic diseases
c.74+5G>A Single submitter idiopathic generalized epilepsy
c.74+6G>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.75-4del Single submitter
c.857-19_857-18delinsCC Single submitter idiopathic generalized epilepsy
c.-10C>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.-15-5T>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.-16+5G>A Single submitter
c.-162G>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.-195A>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.-220T>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.-248+1G>T Single submitter developmental and epileptic encephalopathy, 19
c.-248+5C>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.-248+8C>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.-260T>C Single submitter
c.-2C>T Single submitter
c.-399C>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.-405T>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.-439A>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.-447G>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.-448G>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.-448G>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.-455G>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1061T>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1319A>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1324T>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1359T>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1425T>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1426A>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1443A>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1512G>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1526A>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1601T>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1609A>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1611G>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1659A>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1685C>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1686G>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1697A>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1749T>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1781T>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1821T>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1837C>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1938A>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1971T>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*1984T>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*2009G>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*2035G>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*2098C>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*213C>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*2279G>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*2334C>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*242C>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*2523A>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*302A>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*325T>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*398A>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*401G>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*413G>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*433G>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*438A>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*456C>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*580G>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*580G>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*630T>C Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*826G>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*838G>A Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
c.*993C>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Ala136Ser Single submitter developmental and epileptic encephalopathy, 19
p.Ala13Thr Single submitter idiopathic generalized epilepsy ⚠
p.Ala164Asp Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Ala177Val Single submitter ⚠
p.Ala281Glu Single submitter developmental and epileptic encephalopathy, 19 ⚠
p.Ala369Val Single submitter ⚠
p.Ala380Pro Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Ala380Val Single submitter idiopathic generalized epilepsy ⚠
p.Ala387Ser Single submitter idiopathic generalized epilepsy ⚠
p.Ala387Thr Single submitter ⚠
p.Ala387Val Single submitter idiopathic generalized epilepsy ⚠
p.Ala451fs Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Ala451Thr Single submitter idiopathic generalized epilepsy ⚠
p.Ala451Val Single submitter idiopathic generalized epilepsy ⚠
p.Arg112Gly Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Arg112Leu Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Arg159Thr Single submitter ⚠
p.Arg163Lys Single submitter ⚠
p.Arg204Leu Single submitter idiopathic generalized epilepsy ⚠
p.Arg276Ser Single submitter idiopathic generalized epilepsy ⚠
p.Arg282Thr Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Arg340Thr Single submitter ⚠
p.Arg381Ser Single submitter
p.Arg421Gln Single submitter Inborn genetic diseases ⚠
p.Arg421Leu Single submitter developmental and epileptic encephalopathy, 19 ⚠
p.Arg421Ter Single submitter idiopathic generalized epilepsy
p.Arg64His Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Arg64Leu Single submitter ⚠
p.Arg64Pro Single submitter ⚠
p.Arg94Ser Single submitter ⚠
p.Asn114Ser Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Asn143Lys Single submitter Epilepsy, childhood absence 4 ⚠
p.Asn335Ile Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Asn365Asp Single submitter ⚠
p.Asn365fs Single submitter
p.Asn444Asp Single submitter ⚠
p.Asn444fs Single submitter Epilepsy, childhood absence 4
p.Asn444Lys Single submitter idiopathic generalized epilepsy
p.Asp125Gly Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Asp226Gly Single submitter idiopathic generalized epilepsy ⚠
p.Asp33Asn Single submitter idiopathic generalized epilepsy ⚠
p.Asp345Asn Single submitter Epilepsy, childhood absence 4
p.Asp359Glu Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Asp359His Single submitter ⚠
p.Asp383Asn Single submitter idiopathic generalized epilepsy ⚠
p.Asp420Gly Single submitter idiopathic generalized epilepsy ⚠
p.Asp71Gly Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Asp82His Single submitter ⚠
p.Asp84His Single submitter Epilepsy, childhood absence 4 ⚠
p.Asp90Gly Single submitter Epilepsy, childhood absence 4 ⚠
p.Asp90Tyr Single submitter idiopathic generalized epilepsy ⚠
p.Asp9Gly Single submitter developmental and epileptic encephalopathy, 19 ⚠
p.Cys10Ser Single submitter ⚠
p.Cys166Trp Single submitter idiopathic generalized epilepsy ⚠
p.Gln217Lys Single submitter idiopathic generalized epilepsy ⚠
p.Gln223Ter Single submitter
p.Gln231Glu Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Gln269= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Gln448Glu Single submitter ⚠
p.Gln456Ter Single submitter idiopathic generalized epilepsy
p.Glu150Lys Single submitter developmental and epileptic encephalopathy, 19 ⚠
p.Glu165fs Single submitter
p.Glu201Gly Single submitter idiopathic generalized epilepsy ⚠
p.Glu277Asp Single submitter idiopathic generalized epilepsy ⚠
p.Glu277Gln Single submitter ⚠
p.Glu408Asp Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Glu63Lys Single submitter
p.Glu67Lys Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Glu67Val Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Glu86fs Single submitter
p.Gly185Val Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Gly212Arg Single submitter idiopathic generalized epilepsy ⚠
p.Gly23Arg Single submitter idiopathic generalized epilepsy ⚠
p.Gly251Arg Single submitter ⚠
p.Gly286Arg Single submitter ⚠
p.Gly382Asp Single submitter idiopathic generalized epilepsy ⚠
p.Gly60Ala Single submitter epilepsy ⚠
p.Gly78= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.His178Gln Single submitter idiopathic generalized epilepsy ⚠
p.His243Asp Single submitter Inborn genetic diseases ⚠
p.His83Asp Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Ile148Phe Single submitter ⚠
p.Ile148Thr Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Ile15Phe Single submitter ⚠
p.Ile229Val Single submitter ⚠
p.Ile266Thr Single submitter ⚠
p.Ile317Leu Single submitter
p.Ile395Leu Single submitter ⚠
p.Ile395Thr Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Ile425Thr Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Ile433Asn Single submitter ⚠
p.Ile72Leu Single submitter Epilepsy, childhood absence 4
p.Ile89Val Single submitter ⚠
p.Leu111Pro Single submitter Epilepsy, childhood absence 4 ⚠
p.Leu113Phe Single submitter Inborn genetic diseases ⚠
p.Leu116Pro Single submitter Inborn genetic diseases ⚠
p.Leu11Phe Single submitter ⚠
p.Leu154Val Single submitter ⚠
p.Leu155Pro Single submitter ⚠
p.Leu182fs Single submitter
p.Leu220Phe Single submitter Inborn genetic diseases ⚠
p.Leu221Pro Single submitter ⚠
p.Leu274Phe Single submitter ⚠
p.Leu304Pro Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Leu328Pro Single submitter idiopathic generalized epilepsy ⚠
p.Leu328Val Single submitter ⚠
p.Leu361Phe Single submitter idiopathic generalized epilepsy ⚠
p.Leu386Phe Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Leu436Phe Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Leu46Phe Single submitter idiopathic generalized epilepsy ⚠
p.Leu46Val Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Leu7Arg Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Lys144Glu Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Lys339Arg Single submitter ⚠
p.Lys36Glu Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Lys410Glu Single submitter idiopathic generalized epilepsy ⚠
p.Lys418Arg Single submitter idiopathic generalized epilepsy ⚠
p.Lys450Asn Single submitter developmental and epileptic encephalopathy, 19 ⚠
p.Lys69Asn Single submitter Inborn genetic diseases ⚠
p.Met139Val Single submitter idiopathic generalized epilepsy
p.Met158Val Single submitter ⚠
p.Met168Leu Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Met168Thr Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Met240Ile Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Met240Leu Single submitter
p.Met263Leu Single submitter idiopathic generalized epilepsy ⚠
p.Phe104Leu Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Phe127Val Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Phe128Leu Single submitter ⚠
p.Phe244Leu Single submitter developmental and epileptic encephalopathy, 19 ⚠
p.Phe272del Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Phe331Ile Single submitter ⚠
p.Phe413Cys Single submitter ⚠
p.Phe427Ser Single submitter ⚠
p.Phe431Leu Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Phe431Ser Single submitter ⚠
p.Phe434Ser Single submitter Inborn genetic diseases ⚠
p.Phe73Ile Single submitter Epilepsy, childhood absence 4 ⚠
p.Phe73Ser Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Phe77Leu Single submitter ⚠
p.Pro107Leu Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Pro167Leu Single submitter idiopathic generalized epilepsy ⚠
p.Pro167Ser Single submitter ⚠
p.Pro174Ala Single submitter ⚠
p.Pro174Leu Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Pro305His Single submitter ⚠
p.Pro354Gln Single submitter catecholaminergic polymorphic ventricular tachycardia ⚠
p.Pro360Ala Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Pro360Thr Single submitter idiopathic generalized epilepsy ⚠
p.Pro384Arg Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Pro402Ser Single submitter Inborn genetic diseases ⚠
p.Pro409His Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Pro452dup Single submitter idiopathic generalized epilepsy
p.Pro5Ser Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Pro79His Single submitter Inborn genetic diseases ⚠
p.Ser205Leu Single submitter ⚠
p.Ser213Leu Single submitter idiopathic generalized epilepsy ⚠
p.Ser233Thr Single submitter ⚠
p.Ser271Pro Single submitter ⚠
p.Ser278Phe Single submitter idiopathic generalized epilepsy ⚠
p.Ser278Pro Single submitter ⚠
p.Ser278Tyr Single submitter Epilepsy, childhood absence 4 ⚠
p.Ser299Arg Single submitter ⚠
p.Ser348Thr Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Ser374Arg Single submitter ⚠
p.Ser415Gly Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Ser415Thr Single submitter idiopathic generalized epilepsy ⚠
p.Ser417Cys Single submitter ⚠
p.Ser423Leu Single submitter developmental and epileptic encephalopathy, 19 ⚠
p.Ser4Ile Single submitter idiopathic generalized epilepsy ⚠
p.Ser76Asn Single submitter idiopathic generalized epilepsy ⚠
p.Ser81= Single submitter epilepsy, idiopathic generalized, susceptibility to, 13
p.Ser8Tyr Single submitter epilepsy, idiopathic generalized, susceptibility to, 13 ⚠
p.Ser96Ile Single submitter idiopathic generalized epilepsy ⚠
p.Ter457Gln Single submitter