GABRD — 451 ClinVar variants

All ClinVar germline GABRD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 198 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 16 Conflicting · 18 Benign · 7 Benign/Likely benign · 175 Likely benign · 232 Uncertain significance

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

⚑ Evidence disagreements 198

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

Predictors agree, ClinVar conflicts 10

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

GABRD p.Ala335Thr Conflicting Single submitter
idiopathic generalized epilepsy
GABRD p.Ala3Ser Conflicting Single submitter
Inborn genetic diseases
GABRD p.Arg357Lys Conflicting Single submitter
Inborn genetic diseases
GABRD p.Arg379Gln Conflicting Single submitter
idiopathic generalized epilepsy
GABRD p.Arg381Cys Conflicting Single submitter
Inborn genetic diseases
GABRD p.Arg418Trp Conflicting Single submitter
idiopathic generalized epilepsy
GABRD p.Gly385Glu Conflicting Single submitter
Inborn genetic diseases
GABRD p.Gly410Val Conflicting Single submitter
Inborn genetic diseases
GABRD p.Ser199Asn Conflicting Single submitter
idiopathic generalized epilepsy
GABRD p.Val259Ile Conflicting Single submitter
idiopathic generalized epilepsy

Predictors lean, ClinVar uncertain 155

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 155

GABRD p.Ala24Val Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Ala331Gly Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Ala437Val Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Arg23Gly Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Arg378His Uncertain significance Multiple submitters
Inborn genetic diseases
GABRD p.Arg379Pro Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Arg379Trp Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 10
GABRD p.Arg382His Uncertain significance Multiple submitters
Inborn genetic diseases
GABRD p.Arg408Cys Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Arg408His Uncertain significance Multiple submitters
Inborn genetic diseases
GABRD p.Arg416His Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Asn35Ser Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 10
GABRD p.Asn443Ser Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 10
GABRD p.Asn82Asp Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Asp30Asn Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Asp311Asn Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Gln18His Uncertain significance Multiple submitters
Inborn genetic diseases
GABRD p.Gln253Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GABRD p.Gln372Arg Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 10
GABRD p.Gly389Ala Uncertain significance Multiple submitters
Inborn genetic diseases
GABRD p.Gly405Ala Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Gly46Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GABRD p.Ile192Val Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Met388Leu Uncertain significance Multiple submitters
GABRD-related disorder
GABRD p.Met452Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GABRD p.Pro350Leu Uncertain significance Multiple submitters
Inborn genetic diseases
GABRD p.Pro63Ala Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Thr222Ala Uncertain significance Multiple submitters
Inborn genetic diseases
GABRD p.Thr292Met Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 10
GABRD p.Thr371Met Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Thr88Met Uncertain significance Multiple submitters
Inborn genetic diseases
GABRD p.Val312Ile Uncertain significance Multiple submitters
Inborn genetic diseases
GABRD p.Val370Ile Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Val383Ile Uncertain significance Multiple submitters
Inborn genetic diseases
GABRD p.Val396Leu Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Ala163Thr Uncertain significance Single submitter
Inborn genetic diseases
GABRD p.Ala274Val Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ala275Thr Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ala323Ser Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ala323Val Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ala329Thr Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ala359Thr Uncertain significance Single submitter
Inborn genetic diseases
GABRD p.Ala367Val Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ala375Val Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ala440Val Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ala448Val Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ala449Ser Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ala52Ser Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ala5Gly Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ala5Val Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ala69Val Uncertain significance Single submitter
GABRD p.Arg114Cys Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Arg157Gln Uncertain significance Single submitter
GABRD p.Arg20His Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Arg244Gln Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Arg245Gly Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Arg303Trp Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Arg351Thr Uncertain significance Single submitter
Inborn genetic diseases
GABRD p.Arg378Cys Uncertain significance Single submitter
Inborn genetic diseases
GABRD p.Arg378Leu Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Arg381His Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Arg382Cys Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Arg382Leu Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Arg392Gly Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Arg416Cys Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Arg416Pro Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Arg418Gln Uncertain significance Single submitter
Inborn genetic diseases
GABRD p.Arg418Pro Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 10
GABRD p.Arg432Cys Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Arg432Gly Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Arg432His Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Arg56Gln Uncertain significance Single submitter
GABRD p.Arg56Trp Uncertain significance Single submitter
Inborn genetic diseases
GABRD p.Arg6Gly Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Asn334Ser Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Asn35Lys Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Asn386Tyr Uncertain significance Single submitter
GABRD p.Asn65Lys Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Asp123Asn Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Asp136Asn Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Asp207Glu Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Asp207His Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Asp2Glu Uncertain significance Single submitter
Inborn genetic diseases
GABRD p.Asp355Glu Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Asp425Asn Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Gln17Lys Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Gln213Arg Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Gln412His Uncertain significance Single submitter
GABRD p.Glu107Lys Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Glu175Lys Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Gly150Ser Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Gly21Cys Uncertain significance Single submitter
Inborn genetic diseases
GABRD p.Gly21Ser Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Gly33Ser Uncertain significance Single submitter
Inborn genetic diseases
GABRD p.Gly395Arg Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Gly399Arg Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Gly405Glu Uncertain significance Single submitter
Inborn genetic diseases
GABRD p.Gly405Val Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Gly414Asp Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Gly46Glu Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Gly58Asp Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.His135Tyr Uncertain significance Single submitter
Inborn genetic diseases
GABRD p.His202Asp Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.His202Tyr Uncertain significance Single submitter
GABRD p.His240Tyr Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ile422Val Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ile427Thr Uncertain significance Single submitter
Inborn genetic diseases
GABRD p.Ile78Val Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Leu111Arg Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Leu19Arg Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Leu239Met Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 10
GABRD p.Leu243Pro Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Leu387Gln Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Leu68Ile Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Lys130Thr Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Lys142Arg Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Lys344Met Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Lys403Thr Uncertain significance Single submitter
Inborn genetic diseases
GABRD p.Met256Val Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Met354Val Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Met87Val Uncertain significance Single submitter
GABRD p.Phe241Cys Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Phe320Val Uncertain significance Single submitter
GABRD p.Phe439Leu Uncertain significance Single submitter
GABRD p.Pro10Leu Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Pro172Thr Uncertain significance Single submitter
Inborn genetic diseases
GABRD p.Pro384Ala Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 10
GABRD p.Pro384Leu Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Pro436Leu Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Pro63His Uncertain significance Single submitter
Inborn genetic diseases
GABRD p.Ser113Gly Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 10
GABRD p.Ser131Leu Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ser197Leu Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ser238Thr Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 10
GABRD p.Ser296Gly Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ser300Phe Uncertain significance Single submitter
GABRD p.Ser393Leu Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Thr105Ile Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Thr138Met Uncertain significance Single submitter
GABRD-related disorder
GABRD p.Thr159Asn Uncertain significance Single submitter
GABRD p.Thr217Ser Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Thr22Ala Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Thr22Ile Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Thr289Met Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Thr291Ile Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 10
GABRD p.Thr401Arg Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Trp447Gly Uncertain significance Single submitter
GABRD p.Val280Leu Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Val326Leu Uncertain significance Single submitter
GABRD p.Val32Met Uncertain significance Single submitter
idiopathic generalized epilepsy

Predictors split 33

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

GABRD p.Arg220Cys Benign/Likely benign Multiple submitters
idiopathic generalized epilepsy
GABRD p.Arg244Trp Uncertain significance Multiple submitters
Inborn genetic diseases
GABRD p.Arg96Trp Uncertain significance Multiple submitters
epilepsy, idiopathic generalized, susceptibility to, 10
GABRD p.Asp27Gly Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Gln273Arg Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Gly205Arg Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Gly369Ser Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Thr223Met Uncertain significance Multiple submitters
idiopathic generalized epilepsy
GABRD p.Ala212Glu Uncertain significance Single submitter
Inborn genetic diseases
GABRD p.Ala278Asp Uncertain significance Single submitter
GABRD p.Ala343Pro Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ala431Thr Uncertain significance Single submitter
Inborn genetic diseases
GABRD p.Arg298Cys Uncertain significance Single submitter
Inborn genetic diseases
GABRD p.Asn246Thr Uncertain significance Single submitter
Inborn genetic diseases
GABRD p.Asp311Glu Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 10
GABRD p.Gln273His Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Gln93Glu Uncertain significance Single submitter
GABRD p.Glu190Ala Uncertain significance Single submitter
GABRD p.Gly186Ser Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Gly248Ser Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Gly369Cys Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Gly50Arg Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Gly60Arg Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ile271Met Uncertain significance Single submitter
GABRD p.Leu260Val Pathogenic Single submitter
epilepsy, idiopathic generalized, susceptibility to, 10
GABRD p.Leu362His Uncertain significance Single submitter
GABRD p.Lys308Arg Conflicting Single submitter
epilepsy, idiopathic generalized, susceptibility to, 10
GABRD p.Phe115Leu Uncertain significance Single submitter
Inborn genetic diseases
GABRD p.Phe241Leu Uncertain significance Single submitter
epilepsy, idiopathic generalized, susceptibility to, 10
GABRD p.Phe363Leu Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Ser160Phe Uncertain significance Single submitter
idiopathic generalized epilepsy
GABRD p.Thr159Ser Uncertain significance Single submitter
GABRD p.Val267Ile Uncertain significance Single submitter
Inborn genetic diseases

All GABRD variants

Pathogenic 1

p.Leu260Val Single submitter epilepsy, idiopathic generalized, susceptibility to, 10 ⚠

Pathogenic/Likely pathogenic 1

p.Ala212Val Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 10

Likely pathogenic 1

p.Pro257Leu Multiple submitters Inborn genetic diseases

Conflicting classifications of pathogenicity 16

c.1060-7C>T Single submitter idiopathic generalized epilepsy
c.470+6C>T Single submitter idiopathic generalized epilepsy
c.554-5T>A Single submitter idiopathic generalized epilepsy
c.69-4C>T Single submitter idiopathic generalized epilepsy
p.Ala335Thr Single submitter idiopathic generalized epilepsy ⚠
p.Ala3Ser Single submitter Inborn genetic diseases ⚠
p.Arg357Lys Single submitter Inborn genetic diseases ⚠
p.Arg379Gln Single submitter idiopathic generalized epilepsy ⚠
p.Arg381Cys Single submitter Inborn genetic diseases ⚠
p.Arg418Trp Single submitter idiopathic generalized epilepsy ⚠
p.Gly385Glu Single submitter Inborn genetic diseases ⚠
p.Gly410Val Single submitter Inborn genetic diseases ⚠
p.Lys308Arg Single submitter epilepsy, idiopathic generalized, susceptibility to, 10 ⚠
p.Ser199Asn Single submitter idiopathic generalized epilepsy ⚠
p.Thr223= Single submitter idiopathic generalized epilepsy
p.Val259Ile Single submitter idiopathic generalized epilepsy ⚠

Benign 18

c.1060-14C>T Multiple submitters idiopathic generalized epilepsy
c.69-19G>A Multiple submitters idiopathic generalized epilepsy
p.Ala324= Multiple submitters idiopathic generalized epilepsy
p.Ala368= Multiple submitters idiopathic generalized epilepsy
p.Asn334= Multiple submitters idiopathic generalized epilepsy
p.Gly110= Multiple submitters idiopathic generalized epilepsy
p.Ser272= Multiple submitters idiopathic generalized epilepsy
p.Thr138= Multiple submitters idiopathic generalized epilepsy
c.470+20G>A Single submitter idiopathic generalized epilepsy
c.68+18G>A Single submitter idiopathic generalized epilepsy
c.69-366C>G Single submitter
c.69-439G>A Single submitter
c.69-618G>A Single submitter
c.69-720C>T Single submitter
p.Pro277= Single submitter idiopathic generalized epilepsy
p.Thr88= Single submitter idiopathic generalized epilepsy
p.Tyr185= Single submitter idiopathic generalized epilepsy
p.Val259= Single submitter idiopathic generalized epilepsy

Benign/Likely benign 7

c.1060-8T>A Multiple submitters idiopathic generalized epilepsy
p.Arg220Cys Multiple submitters idiopathic generalized epilepsy ⚠
p.Arg220His Multiple submitters idiopathic generalized epilepsy
p.Gly29= Multiple submitters idiopathic generalized epilepsy
p.His135= Multiple submitters idiopathic generalized epilepsy
p.Phe322= Multiple submitters idiopathic generalized epilepsy
p.Thr401Met Multiple submitters idiopathic generalized epilepsy

Likely benign 175

c.181+20C>T Multiple submitters idiopathic generalized epilepsy
c.471-8C>A Multiple submitters idiopathic generalized epilepsy
c.68+10C>T Multiple submitters idiopathic generalized epilepsy
c.848-17C>T Multiple submitters idiopathic generalized epilepsy
p.Ala274= Multiple submitters Inborn genetic diseases
p.Ala438= Multiple submitters idiopathic generalized epilepsy
p.Ala448= Multiple submitters Inborn genetic diseases
p.Ala49= Multiple submitters idiopathic generalized epilepsy
p.Asn106= Multiple submitters idiopathic generalized epilepsy
p.Asp174= Multiple submitters idiopathic generalized epilepsy
p.His204= Multiple submitters Inborn genetic diseases
p.His240= Multiple submitters idiopathic generalized epilepsy
p.Ile415= Multiple submitters Inborn genetic diseases
p.Pro384= Multiple submitters idiopathic generalized epilepsy
p.Pro384Ser Multiple submitters idiopathic generalized epilepsy
p.Ser189= Multiple submitters idiopathic generalized epilepsy
p.Thr289= Multiple submitters Inborn genetic diseases
p.Thr401= Multiple submitters idiopathic generalized epilepsy
c.1059+16C>T Single submitter idiopathic generalized epilepsy
c.1059+17G>A Single submitter idiopathic generalized epilepsy
c.1059+8C>T Single submitter idiopathic generalized epilepsy
c.1059+9C>G Single submitter idiopathic generalized epilepsy
c.1060-17C>A Single submitter idiopathic generalized epilepsy
c.1060-6G>A Single submitter
c.181+10G>C Single submitter idiopathic generalized epilepsy
c.181+13C>A Single submitter idiopathic generalized epilepsy
c.181+9C>T Single submitter idiopathic generalized epilepsy
c.182-12C>A Single submitter idiopathic generalized epilepsy
c.182-8C>T Single submitter idiopathic generalized epilepsy
c.249+8C>G Single submitter idiopathic generalized epilepsy
c.249+8C>T Single submitter idiopathic generalized epilepsy
c.250-13G>A Single submitter idiopathic generalized epilepsy
c.250-14T>G Single submitter idiopathic generalized epilepsy
c.250-16T>C Single submitter idiopathic generalized epilepsy
c.470+10C>G Single submitter idiopathic generalized epilepsy
c.470+10C>T Single submitter idiopathic generalized epilepsy
c.470+15C>A Single submitter idiopathic generalized epilepsy
c.470+19C>T Single submitter idiopathic generalized epilepsy
c.470+7G>A Single submitter idiopathic generalized epilepsy
c.470+9G>A Single submitter idiopathic generalized epilepsy
c.471-20T>G Single submitter idiopathic generalized epilepsy
c.553+10T>C Single submitter idiopathic generalized epilepsy
c.553+16A>G Single submitter idiopathic generalized epilepsy
c.553+18G>C Single submitter idiopathic generalized epilepsy
c.553+9G>T Single submitter idiopathic generalized epilepsy
c.554-20C>T Single submitter idiopathic generalized epilepsy
c.554-7C>T Single submitter idiopathic generalized epilepsy
c.68+12_68+14del Single submitter idiopathic generalized epilepsy
c.68+14G>C Single submitter idiopathic generalized epilepsy
c.68+17C>G Single submitter idiopathic generalized epilepsy
c.68+20G>A Single submitter idiopathic generalized epilepsy
c.68+7G>T Single submitter idiopathic generalized epilepsy
c.69-17T>G Single submitter idiopathic generalized epilepsy
c.69-20C>T Single submitter idiopathic generalized epilepsy
c.69-6C>A Single submitter idiopathic generalized epilepsy
c.69-7T>C Single submitter idiopathic generalized epilepsy
c.691+11C>A Single submitter idiopathic generalized epilepsy
c.691+13C>T Single submitter idiopathic generalized epilepsy
c.691+14_691+57dup Single submitter idiopathic generalized epilepsy
c.691+14G>A Single submitter idiopathic generalized epilepsy
c.691+16C>T Single submitter idiopathic generalized epilepsy
c.691+19C>A Single submitter idiopathic generalized epilepsy
c.691+27_691+28insGCGCGCCCGCCGCCCCTTCCGC Single submitter idiopathic generalized epilepsy
c.691+27_691+28insGCGCGCCCGCCGCCCCTTCCGCGCGCGCCCGCCGCCCCTTCCGC Single submitter idiopathic generalized epilepsy
c.691+28_691+49del Single submitter idiopathic generalized epilepsy
c.691+28_691+49dup Single submitter idiopathic generalized epilepsy
c.691+57_691+58insGCCGCCCCTTCCGCGCGCGCCCGCCGCCCCTTCCGCATGTGCCCGCCGCCCCTTCCGCGCGCGCCC Single submitter idiopathic generalized epilepsy
c.692-18C>T Single submitter idiopathic generalized epilepsy
c.847+12C>T Single submitter idiopathic generalized epilepsy
c.847+13G>A Single submitter idiopathic generalized epilepsy
c.847+15C>T Single submitter idiopathic generalized epilepsy
c.847+16G>A Single submitter idiopathic generalized epilepsy
c.847+7G>C Single submitter idiopathic generalized epilepsy
c.848-19C>T Single submitter idiopathic generalized epilepsy
c.848-6C>T Single submitter idiopathic generalized epilepsy
c.848-9G>A Single submitter idiopathic generalized epilepsy
p.Ala129= Single submitter idiopathic generalized epilepsy
p.Ala212= Single submitter idiopathic generalized epilepsy
p.Ala24= Single submitter idiopathic generalized epilepsy
p.Ala275= Single submitter idiopathic generalized epilepsy
p.Ala3= Single submitter
p.Ala335= Single submitter idiopathic generalized epilepsy
p.Ala343= Single submitter idiopathic generalized epilepsy
p.Ala375= Single submitter idiopathic generalized epilepsy
p.Ala406= Single submitter idiopathic generalized epilepsy
p.Ala407Thr Single submitter idiopathic generalized epilepsy
p.Ala437= Single submitter idiopathic generalized epilepsy
p.Ala441= Single submitter idiopathic generalized epilepsy
p.Ala5= Single submitter idiopathic generalized epilepsy
p.Ala67= Single submitter idiopathic generalized epilepsy
p.Arg20= Single submitter idiopathic generalized epilepsy
p.Arg303= Single submitter idiopathic generalized epilepsy
p.Arg379= Single submitter idiopathic generalized epilepsy
p.Arg382= Single submitter idiopathic generalized epilepsy
p.Arg432= Single submitter idiopathic generalized epilepsy
p.Asn128= Single submitter idiopathic generalized epilepsy
p.Asn35= Single submitter idiopathic generalized epilepsy
p.Asn358= Single submitter idiopathic generalized epilepsy
p.Asn54= Single submitter idiopathic generalized epilepsy
p.Asp136= Single submitter idiopathic generalized epilepsy
p.Asp149= Single submitter idiopathic generalized epilepsy
p.Asp181= Single submitter idiopathic generalized epilepsy
p.Asp27= Single submitter idiopathic generalized epilepsy
p.Asp311= Single submitter idiopathic generalized epilepsy
p.Asp355= Single submitter idiopathic generalized epilepsy
p.Asp423= Single submitter idiopathic generalized epilepsy
p.Asp428= Single submitter idiopathic generalized epilepsy
p.Asp45= Single submitter idiopathic generalized epilepsy
p.Cys164= Single submitter idiopathic generalized epilepsy
p.Gly150= Single submitter idiopathic generalized epilepsy
p.Gly232= Single submitter idiopathic generalized epilepsy
p.Gly248= Single submitter idiopathic generalized epilepsy
p.Gly33= Single submitter idiopathic generalized epilepsy
p.Gly369= Single submitter idiopathic generalized epilepsy
p.Gly413= Single submitter idiopathic generalized epilepsy
p.Gly61= Single submitter idiopathic generalized epilepsy
p.Ile192= Single submitter idiopathic generalized epilepsy
p.Ile28= Single submitter idiopathic generalized epilepsy
p.Ile422= Single submitter idiopathic generalized epilepsy
p.Ile59= Single submitter idiopathic generalized epilepsy
p.Ile75= Single submitter idiopathic generalized epilepsy
p.Leu153= Single submitter idiopathic generalized epilepsy
p.Leu209= Single submitter idiopathic generalized epilepsy
p.Leu260= Single submitter idiopathic generalized epilepsy
p.Leu310= Single submitter idiopathic generalized epilepsy
p.Leu387= Single submitter idiopathic generalized epilepsy
p.Leu7= Single submitter idiopathic generalized epilepsy
p.Leu91= Single submitter idiopathic generalized epilepsy
p.Lys344= Single submitter idiopathic generalized epilepsy
p.Phe115= Single submitter idiopathic generalized epilepsy
p.Phe125= Single submitter
p.Phe228= Single submitter idiopathic generalized epilepsy
p.Phe314= Single submitter idiopathic generalized epilepsy
p.Phe320= Single submitter idiopathic generalized epilepsy
p.Pro10= Single submitter idiopathic generalized epilepsy
p.Pro122= Single submitter idiopathic generalized epilepsy
p.Pro148= Single submitter idiopathic generalized epilepsy
p.Pro350= Single submitter idiopathic generalized epilepsy
p.Pro62= Single submitter idiopathic generalized epilepsy
p.Pro63= Single submitter idiopathic generalized epilepsy
p.Ser188= Single submitter idiopathic generalized epilepsy
p.Ser230= Single submitter idiopathic generalized epilepsy
p.Ser296= Single submitter idiopathic generalized epilepsy
p.Ser34= Single submitter idiopathic generalized epilepsy
p.Ser348= Single submitter idiopathic generalized epilepsy
p.Ser390= Single submitter idiopathic generalized epilepsy
p.Ser74= Single submitter idiopathic generalized epilepsy
p.Ser94= Single submitter idiopathic generalized epilepsy
p.Ser98= Single submitter idiopathic generalized epilepsy
p.Thr124= Single submitter idiopathic generalized epilepsy
p.Thr124Ala Single submitter autism spectrum disorder
p.Thr159= Single submitter idiopathic generalized epilepsy
p.Thr161= Single submitter idiopathic generalized epilepsy
p.Thr22= Single submitter idiopathic generalized epilepsy
p.Thr286= Single submitter idiopathic generalized epilepsy
p.Thr292= Single submitter idiopathic generalized epilepsy
p.Thr371= Single submitter idiopathic generalized epilepsy
p.Thr398= Single submitter idiopathic generalized epilepsy
p.Tyr31= Single submitter idiopathic generalized epilepsy
p.Tyr313= Single submitter idiopathic generalized epilepsy
p.Tyr328= Single submitter idiopathic generalized epilepsy
p.Tyr430= Single submitter idiopathic generalized epilepsy
p.Tyr446= Single submitter idiopathic generalized epilepsy
p.Tyr450= Single submitter idiopathic generalized epilepsy
p.Tyr51= Single submitter idiopathic generalized epilepsy
p.Val193Ile Single submitter idiopathic generalized epilepsy
p.Val249= Single submitter idiopathic generalized epilepsy
p.Val262= Single submitter idiopathic generalized epilepsy
p.Val276= Single submitter idiopathic generalized epilepsy
p.Val32= Single submitter idiopathic generalized epilepsy
p.Val383= Single submitter idiopathic generalized epilepsy
p.Val72= Single submitter idiopathic generalized epilepsy
p.Val89= Single submitter idiopathic generalized epilepsy
c.1059+3G>A No assertion criteria GABRD-related disorder
c.847+10C>A No assertion criteria GABRD-related disorder

Uncertain significance 232

p.Ala24Val Multiple submitters idiopathic generalized epilepsy ⚠
p.Ala331Gly Multiple submitters idiopathic generalized epilepsy ⚠
p.Ala437Val Multiple submitters idiopathic generalized epilepsy ⚠
p.Arg23Gly Multiple submitters idiopathic generalized epilepsy ⚠
p.Arg244Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg378His Multiple submitters Inborn genetic diseases ⚠
p.Arg379Pro Multiple submitters idiopathic generalized epilepsy ⚠
p.Arg379Trp Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 10 ⚠
p.Arg382His Multiple submitters Inborn genetic diseases ⚠
p.Arg408Cys Multiple submitters idiopathic generalized epilepsy ⚠
p.Arg408His Multiple submitters Inborn genetic diseases ⚠
p.Arg416His Multiple submitters idiopathic generalized epilepsy ⚠
p.Arg96Trp Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 10 ⚠
p.Asn35Ser Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 10 ⚠
p.Asn443Ser Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 10 ⚠
p.Asn82Asp Multiple submitters idiopathic generalized epilepsy ⚠
p.Asp27Gly Multiple submitters idiopathic generalized epilepsy ⚠
p.Asp30Asn Multiple submitters idiopathic generalized epilepsy ⚠
p.Asp311Asn Multiple submitters idiopathic generalized epilepsy ⚠
p.Gln18His Multiple submitters Inborn genetic diseases ⚠
p.Gln253Leu Multiple submitters Inborn genetic diseases ⚠
p.Gln273Arg Multiple submitters idiopathic generalized epilepsy ⚠
p.Gln372Arg Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 10 ⚠
p.Gly205Arg Multiple submitters idiopathic generalized epilepsy ⚠
p.Gly369Ser Multiple submitters idiopathic generalized epilepsy ⚠
p.Gly389Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly405Ala Multiple submitters idiopathic generalized epilepsy ⚠
p.Gly46Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile192Val Multiple submitters idiopathic generalized epilepsy ⚠
p.Met388Leu Multiple submitters GABRD-related disorder ⚠
p.Met452Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro350Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro63Ala Multiple submitters idiopathic generalized epilepsy ⚠
p.Thr222Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr223Met Multiple submitters idiopathic generalized epilepsy ⚠
p.Thr292Met Multiple submitters epilepsy, idiopathic generalized, susceptibility to, 10 ⚠
p.Thr371Met Multiple submitters idiopathic generalized epilepsy ⚠
p.Thr88Met Multiple submitters Inborn genetic diseases ⚠
p.Val312Ile Multiple submitters Inborn genetic diseases ⚠
p.Val370Ile Multiple submitters idiopathic generalized epilepsy ⚠
p.Val383Ile Multiple submitters Inborn genetic diseases ⚠
p.Val396Leu Multiple submitters idiopathic generalized epilepsy ⚠
c.1056_1059+15dup Single submitter idiopathic generalized epilepsy
c.1060-13G>A Single submitter idiopathic generalized epilepsy
c.1060-3C>A Single submitter idiopathic generalized epilepsy
c.250-1G>A Single submitter idiopathic generalized epilepsy
c.250-3C>T Single submitter idiopathic generalized epilepsy
c.553+19C>T Single submitter epilepsy, idiopathic generalized, susceptibility to, 10
c.553+20G>A Single submitter idiopathic generalized epilepsy
c.554-3C>G Single submitter idiopathic generalized epilepsy
c.68+5G>C Single submitter idiopathic generalized epilepsy
c.691+8_691+9del Single submitter epilepsy, idiopathic generalized, susceptibility to, 10
c.692-10G>A Single submitter
c.692-11T>A Single submitter
c.847+4C>T Single submitter idiopathic generalized epilepsy
c.847+5G>A Single submitter idiopathic generalized epilepsy
c.848-5G>A Single submitter idiopathic generalized epilepsy
c.-4G>A Single submitter
c.*17A>G Single submitter epilepsy, idiopathic generalized, susceptibility to, 10
p.Ala163Thr Single submitter Inborn genetic diseases ⚠
p.Ala212Glu Single submitter Inborn genetic diseases ⚠
p.Ala274Val Single submitter idiopathic generalized epilepsy ⚠
p.Ala275Thr Single submitter idiopathic generalized epilepsy ⚠
p.Ala278Asp Single submitter ⚠
p.Ala323= Single submitter idiopathic generalized epilepsy
p.Ala323Ser Single submitter idiopathic generalized epilepsy ⚠
p.Ala323Thr Single submitter idiopathic generalized epilepsy
p.Ala323Val Single submitter idiopathic generalized epilepsy ⚠
p.Ala329Thr Single submitter idiopathic generalized epilepsy ⚠
p.Ala343Pro Single submitter idiopathic generalized epilepsy ⚠
p.Ala359Thr Single submitter Inborn genetic diseases ⚠
p.Ala367Val Single submitter idiopathic generalized epilepsy ⚠
p.Ala375Val Single submitter idiopathic generalized epilepsy ⚠
p.Ala406fs Single submitter
p.Ala424Thr Single submitter idiopathic generalized epilepsy
p.Ala431Thr Single submitter Inborn genetic diseases ⚠
p.Ala440= Single submitter idiopathic generalized epilepsy
p.Ala440Val Single submitter idiopathic generalized epilepsy ⚠
p.Ala448Val Single submitter idiopathic generalized epilepsy ⚠
p.Ala449Ser Single submitter idiopathic generalized epilepsy ⚠
p.Ala52Ser Single submitter idiopathic generalized epilepsy ⚠
p.Ala5Gly Single submitter idiopathic generalized epilepsy ⚠
p.Ala5Val Single submitter idiopathic generalized epilepsy ⚠
p.Ala69Val Single submitter ⚠
p.Arg114Cys Single submitter idiopathic generalized epilepsy ⚠
p.Arg157Gln Single submitter ⚠
p.Arg20His Single submitter idiopathic generalized epilepsy ⚠
p.Arg244Gln Single submitter idiopathic generalized epilepsy ⚠
p.Arg245Gly Single submitter idiopathic generalized epilepsy ⚠
p.Arg247Cys Single submitter idiopathic generalized epilepsy
p.Arg298Cys Single submitter Inborn genetic diseases ⚠
p.Arg303Trp Single submitter idiopathic generalized epilepsy ⚠
p.Arg351Thr Single submitter Inborn genetic diseases ⚠
p.Arg378Cys Single submitter Inborn genetic diseases ⚠
p.Arg378Leu Single submitter idiopathic generalized epilepsy ⚠
p.Arg381His Single submitter idiopathic generalized epilepsy ⚠
p.Arg382Cys Single submitter idiopathic generalized epilepsy ⚠
p.Arg382Leu Single submitter idiopathic generalized epilepsy ⚠
p.Arg392Gly Single submitter idiopathic generalized epilepsy ⚠
p.Arg416Cys Single submitter idiopathic generalized epilepsy ⚠
p.Arg416Pro Single submitter idiopathic generalized epilepsy ⚠
p.Arg418Gln Single submitter Inborn genetic diseases ⚠
p.Arg418Pro Single submitter epilepsy, idiopathic generalized, susceptibility to, 10 ⚠
p.Arg432Cys Single submitter idiopathic generalized epilepsy ⚠
p.Arg432Gly Single submitter idiopathic generalized epilepsy ⚠
p.Arg432His Single submitter idiopathic generalized epilepsy ⚠
p.Arg56Gln Single submitter ⚠
p.Arg56Trp Single submitter Inborn genetic diseases ⚠
p.Arg6Gly Single submitter idiopathic generalized epilepsy ⚠
p.Asn246Thr Single submitter Inborn genetic diseases ⚠
p.Asn334Ser Single submitter idiopathic generalized epilepsy ⚠
p.Asn35Lys Single submitter idiopathic generalized epilepsy ⚠
p.Asn386Tyr Single submitter ⚠
p.Asn65Lys Single submitter idiopathic generalized epilepsy ⚠
p.Asp123Asn Single submitter idiopathic generalized epilepsy ⚠
p.Asp136Asn Single submitter idiopathic generalized epilepsy ⚠
p.Asp207Glu Single submitter idiopathic generalized epilepsy ⚠
p.Asp207His Single submitter idiopathic generalized epilepsy ⚠
p.Asp2Glu Single submitter Inborn genetic diseases ⚠
p.Asp311Glu Single submitter epilepsy, idiopathic generalized, susceptibility to, 10 ⚠
p.Asp336Asn Single submitter idiopathic generalized epilepsy
p.Asp355Glu Single submitter idiopathic generalized epilepsy ⚠
p.Asp425Asn Single submitter idiopathic generalized epilepsy ⚠
p.Cys164Ter Single submitter
p.Gln17Lys Single submitter idiopathic generalized epilepsy ⚠
p.Gln213Arg Single submitter idiopathic generalized epilepsy ⚠
p.Gln273His Single submitter idiopathic generalized epilepsy ⚠
p.Gln273Ter Single submitter
p.Gln412fs Single submitter
p.Gln412His Single submitter ⚠
p.Gln93Glu Single submitter ⚠
p.Glu107Lys Single submitter idiopathic generalized epilepsy ⚠
p.Glu175Lys Single submitter idiopathic generalized epilepsy ⚠
p.Glu190Ala Single submitter ⚠
p.Glu400fs Single submitter idiopathic generalized epilepsy
p.Gly150Ser Single submitter idiopathic generalized epilepsy ⚠
p.Gly186Ser Single submitter idiopathic generalized epilepsy ⚠
p.Gly21Cys Single submitter Inborn genetic diseases ⚠
p.Gly21Ser Single submitter idiopathic generalized epilepsy ⚠
p.Gly248Ser Single submitter idiopathic generalized epilepsy ⚠
p.Gly33Ser Single submitter Inborn genetic diseases ⚠
p.Gly369Cys Single submitter idiopathic generalized epilepsy ⚠
p.Gly395Arg Single submitter idiopathic generalized epilepsy ⚠
p.Gly399Arg Single submitter idiopathic generalized epilepsy ⚠
p.Gly405Glu Single submitter Inborn genetic diseases ⚠
p.Gly405Val Single submitter idiopathic generalized epilepsy ⚠
p.Gly411= Single submitter idiopathic generalized epilepsy
p.Gly414Asp Single submitter idiopathic generalized epilepsy ⚠
p.Gly46Glu Single submitter idiopathic generalized epilepsy ⚠
p.Gly50Arg Single submitter idiopathic generalized epilepsy ⚠
p.Gly58Asp Single submitter idiopathic generalized epilepsy ⚠
p.Gly60Arg Single submitter idiopathic generalized epilepsy ⚠
p.Gly61Ala Single submitter
p.His135Tyr Single submitter Inborn genetic diseases ⚠
p.His202Asp Single submitter idiopathic generalized epilepsy ⚠
p.His202Tyr Single submitter ⚠
p.His240Tyr Single submitter idiopathic generalized epilepsy ⚠
p.Ile144_Arg145insIle Single submitter idiopathic generalized epilepsy
p.Ile252del Single submitter idiopathic generalized epilepsy
p.Ile271Met Single submitter ⚠
p.Ile422Val Single submitter idiopathic generalized epilepsy ⚠
p.Ile427Thr Single submitter Inborn genetic diseases ⚠
p.Ile78Val Single submitter idiopathic generalized epilepsy ⚠
p.Leu111Arg Single submitter idiopathic generalized epilepsy ⚠
p.Leu153fs Single submitter epilepsy, idiopathic generalized, susceptibility to, 10
p.Leu19Arg Single submitter idiopathic generalized epilepsy ⚠
p.Leu239Met Single submitter epilepsy, idiopathic generalized, susceptibility to, 10 ⚠
p.Leu243Pro Single submitter idiopathic generalized epilepsy ⚠
p.Leu362His Single submitter ⚠
p.Leu387Gln Single submitter idiopathic generalized epilepsy ⚠
p.Leu68Ile Single submitter idiopathic generalized epilepsy ⚠
p.Lys130Thr Single submitter idiopathic generalized epilepsy ⚠
p.Lys142Arg Single submitter idiopathic generalized epilepsy ⚠
p.Lys344Met Single submitter idiopathic generalized epilepsy ⚠
p.Lys403del Single submitter idiopathic generalized epilepsy
p.Lys403Thr Single submitter Inborn genetic diseases ⚠
p.Met256Val Single submitter idiopathic generalized epilepsy ⚠
p.Met290del Single submitter idiopathic generalized epilepsy
p.Met354Val Single submitter idiopathic generalized epilepsy ⚠
p.Met87Val Single submitter ⚠
p.Phe115Leu Single submitter Inborn genetic diseases ⚠
p.Phe241Cys Single submitter idiopathic generalized epilepsy ⚠
p.Phe241Leu Single submitter epilepsy, idiopathic generalized, susceptibility to, 10 ⚠
p.Phe269del Single submitter
p.Phe320Val Single submitter ⚠
p.Phe363Leu Single submitter idiopathic generalized epilepsy ⚠
p.Phe439Leu Single submitter ⚠
p.Pro10Leu Single submitter idiopathic generalized epilepsy ⚠
p.Pro172Thr Single submitter Inborn genetic diseases ⚠
p.Pro384Ala Single submitter epilepsy, idiopathic generalized, susceptibility to, 10 ⚠
p.Pro384Leu Single submitter idiopathic generalized epilepsy ⚠
p.Pro436Leu Single submitter idiopathic generalized epilepsy ⚠
p.Pro63His Single submitter Inborn genetic diseases ⚠
p.Ser113Gly Single submitter epilepsy, idiopathic generalized, susceptibility to, 10 ⚠
p.Ser131Leu Single submitter idiopathic generalized epilepsy ⚠
p.Ser160Phe Single submitter idiopathic generalized epilepsy ⚠
p.Ser189Pro Single submitter Inborn genetic diseases
p.Ser197= Single submitter idiopathic generalized epilepsy
p.Ser197Leu Single submitter idiopathic generalized epilepsy ⚠
p.Ser218fs Single submitter idiopathic generalized epilepsy
p.Ser238Thr Single submitter epilepsy, idiopathic generalized, susceptibility to, 10 ⚠
p.Ser296Gly Single submitter idiopathic generalized epilepsy ⚠
p.Ser299Phe Single submitter idiopathic generalized epilepsy
p.Ser300Phe Single submitter ⚠
p.Ser366fs Single submitter idiopathic generalized epilepsy
p.Ser393Leu Single submitter idiopathic generalized epilepsy ⚠
p.Thr105Ile Single submitter idiopathic generalized epilepsy ⚠
p.Thr138Met Single submitter GABRD-related disorder ⚠
p.Thr159Asn Single submitter ⚠
p.Thr159Ser Single submitter ⚠
p.Thr217Ser Single submitter idiopathic generalized epilepsy ⚠
p.Thr22Ala Single submitter idiopathic generalized epilepsy ⚠
p.Thr22Ile Single submitter idiopathic generalized epilepsy ⚠
p.Thr289Met Single submitter idiopathic generalized epilepsy ⚠
p.Thr291Ile Single submitter epilepsy, idiopathic generalized, susceptibility to, 10 ⚠
p.Thr401Arg Single submitter idiopathic generalized epilepsy ⚠
p.Trp447Gly Single submitter ⚠
p.Tyr171fs Single submitter idiopathic generalized epilepsy
p.Tyr318fs Single submitter
p.Val127Met Single submitter idiopathic generalized epilepsy
p.Val267Ile Single submitter Inborn genetic diseases ⚠
p.Val280Leu Single submitter idiopathic generalized epilepsy ⚠
p.Val326Leu Single submitter ⚠
p.Val32Met Single submitter idiopathic generalized epilepsy ⚠
p.Val345= Single submitter idiopathic generalized epilepsy
p.Val347fs Single submitter
p.Val356Met Single submitter idiopathic generalized epilepsy ⚠
p.Val434Met Single submitter idiopathic generalized epilepsy ⚠
p.Val442Ile Single submitter idiopathic generalized epilepsy ⚠
p.Val444Ile Single submitter idiopathic generalized epilepsy ⚠
p.Val72Ala Single submitter idiopathic generalized epilepsy ⚠
c.470+1G>C No assertion criteria epilepsy, idiopathic generalized, susceptibility to, 10