GABRA6 — 81 ClinVar variants

All ClinVar germline GABRA6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →

12 Benign · 19 Likely benign · 50 Uncertain significance

Full GABRA6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 44

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 lean, ClinVar uncertain 37

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 7

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

All GABRA6 variants

Benign 12

c.1086+10T>A Single submitter
c.*135C>T Single submitter childhood absence epilepsy
p.Ala317= Single submitter childhood absence epilepsy
p.Ala335= Single submitter childhood absence epilepsy
p.Gln213= Single submitter childhood absence epilepsy
p.Lys20= Single submitter childhood absence epilepsy
p.Pro404Ser Single submitter childhood absence epilepsy
p.Ser3= Single submitter childhood absence epilepsy
p.Thr187Met Single submitter childhood absence epilepsy
p.Val198= Single submitter childhood absence epilepsy
p.Val269Ile Single submitter childhood absence epilepsy
p.Val448= Single submitter childhood absence epilepsy

Likely benign 19

p.Gln237Arg Multiple submitters childhood absence epilepsy
c.226-7C>G Single submitter
p.Ala169= Single submitter childhood absence epilepsy
p.Ala2Val Single submitter
p.Ala300= Single submitter
p.Arg337= Single submitter
p.Asn388Ser Single submitter
p.Glu386Lys Single submitter childhood absence epilepsy
p.Ile381Thr Single submitter childhood absence epilepsy
p.Leu39= Single submitter
p.Leu5= Single submitter
p.Leu92= Single submitter
p.Lys221= Single submitter childhood absence epilepsy
p.Lys351Asn Single submitter childhood absence epilepsy
p.Thr113= Single submitter childhood absence epilepsy
p.Val32Ile Single submitter
p.Leu377= No assertion criteria GABRA6-related disorder
p.Thr187= No assertion criteria GABRA6-related disorder
p.Val347Ala No assertion criteria GABRA6-related disorder

Uncertain significance 50

p.Ala271Ser Single submitter ⚠
p.Ala312Pro Single submitter ⚠
p.Ala394Val Single submitter ⚠
p.Arg291Gln Single submitter ⚠
p.Arg337fs Single submitter
p.Arg422Gln Single submitter ⚠
p.Arg48Gln Single submitter ⚠
p.Arg84fs Single submitter
p.Asp365Ala Single submitter ⚠
p.Asp418His Single submitter ⚠
p.Asp80Val Single submitter ⚠
p.Gln246His Single submitter ⚠
p.Gln85His Single submitter childhood absence epilepsy ⚠
p.Glu200Gln Single submitter ⚠
p.Glu201Gly Single submitter ⚠
p.Gly191Arg Single submitter ⚠
p.Gly42Ala Single submitter ⚠
p.Gly68Glu Single submitter ⚠
p.Gly96Arg Single submitter ⚠
p.Gly96Glu Single submitter ⚠
p.Ile211Thr Single submitter ⚠
p.Ile307Lys Single submitter ⚠
p.Ile360fs Single submitter
p.Leu330Arg Single submitter ⚠
p.Leu356Ser Single submitter ⚠
p.Lys173Arg Single submitter ⚠
p.Lys416Glu Single submitter
p.Met129Val Single submitter ⚠
p.Met139Leu Single submitter ⚠
p.Met1Leu Single submitter
p.Met283Val Single submitter childhood absence epilepsy ⚠
p.Phe315Val Single submitter ⚠
p.Pro192Thr Single submitter ⚠
p.Pro250Ser Single submitter ⚠
p.Pro401Leu Single submitter ⚠
p.Pro426Arg Single submitter ⚠
p.Ser102Ile Single submitter
p.Ser124Cys Single submitter childhood absence epilepsy ⚠
p.Ser222Tyr Single submitter ⚠
p.Ser451Arg Single submitter ⚠
p.Thr231Ala Single submitter ⚠
p.Thr285Ser Single submitter ⚠
p.Thr328Ile Single submitter ⚠
p.Thr400Ala Single submitter ⚠
p.Thr400Ile Single submitter ⚠
p.Thr56Ser Single submitter ⚠
p.Tyr194Asn Single submitter ⚠
p.Val198Asp Single submitter ⚠
p.Val324Ile Single submitter ⚠
p.Val70Met Single submitter ⚠