GABRA4 — 71 ClinVar variants
All ClinVar germline GABRA4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
1 Pathogenic/Likely pathogenic · 4 Benign · 10 Likely benign · 56 Uncertain significance
Full GABRA4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GABRA4 p.Gly112Ser Uncertain significance Multiple submitters
-
GABRA4 p.Thr300Asn
Uncertain significance
Multiple submitters
GABRA4-related developmental and epileptic encephalopathy
- GABRA4 p.Ala287Ser Uncertain significance Single submitter
- GABRA4 p.Ala364Thr Uncertain significance Single submitter
- GABRA4 p.Ala382Asp Uncertain significance Single submitter
- GABRA4 p.Ala454Pro Uncertain significance Single submitter
- GABRA4 p.Ala468Pro Uncertain significance Single submitter
- GABRA4 p.Arg135Ser Uncertain significance Single submitter
- GABRA4 p.Arg156Lys Uncertain significance Single submitter
- GABRA4 p.Arg175Lys Uncertain significance Single submitter
- GABRA4 p.Asn402Lys Uncertain significance Single submitter
- GABRA4 p.Asp399Glu Uncertain significance Single submitter
- GABRA4 p.Glu370Asp Uncertain significance Single submitter
- GABRA4 p.Glu46Lys Uncertain significance Single submitter
- GABRA4 p.Gly207Cys Uncertain significance Single submitter
- GABRA4 p.Gly401Arg Uncertain significance Single submitter
- GABRA4 p.His395Arg Uncertain significance Single submitter
- GABRA4 p.His409Asp Uncertain significance Single submitter
- GABRA4 p.Leu273Pro Uncertain significance Single submitter
- GABRA4 p.Lys109Arg Uncertain significance Single submitter
- GABRA4 p.Lys126Glu Uncertain significance Single submitter
- GABRA4 p.Lys517Glu Uncertain significance Single submitter
- GABRA4 p.Lys520Ile Uncertain significance Single submitter
- GABRA4 p.Met386Ile Uncertain significance Single submitter
- GABRA4 p.Pro359Thr Uncertain significance Single submitter
-
GABRA4 p.Pro363Ser
Uncertain significance
Single submitter
GABRA4-related Epileptic and Neurodevelopmental Disorder
- GABRA4 p.Ser198Arg Uncertain significance Single submitter
- GABRA4 p.Ser218Ala Uncertain significance Single submitter
- GABRA4 p.Ser232Ala Uncertain significance Single submitter
- GABRA4 p.Ser274Thr Uncertain significance Single submitter
- GABRA4 p.Ser414Pro Uncertain significance Single submitter
- GABRA4 p.Ser432Thr Uncertain significance Single submitter
- GABRA4 p.Ser446Cys Uncertain significance Single submitter
- GABRA4 p.Ser506Leu Uncertain significance Single submitter
- GABRA4 p.Ser513Pro Uncertain significance Single submitter
- GABRA4 p.Ser552Arg Uncertain significance Single submitter
- GABRA4 p.Thr203Asn Uncertain significance Single submitter
- GABRA4 p.Thr461Ser Uncertain significance Single submitter
- GABRA4 p.Thr492Ala Uncertain significance Single submitter
- GABRA4 p.Tyr537Cys Uncertain significance Single submitter
- GABRA4 p.Val212Ile Uncertain significance Single submitter
- GABRA4 p.Val416Leu Uncertain significance Single submitter
- GABRA4 p.Val478Met Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- GABRA4 p.Ala522Gly Uncertain significance Single submitter
- GABRA4 p.Glu90Val Uncertain significance Single submitter
- GABRA4 p.Ile114Thr Uncertain significance Single submitter
- GABRA4 p.Lys126Gln Uncertain significance Single submitter
- GABRA4 p.Ser516Asn Uncertain significance Single submitter
- GABRA4 p.Thr240Ser Uncertain significance Single submitter
- GABRA4 p.Val290Ala Uncertain significance Single submitter
All GABRA4 variants
Pathogenic/Likely pathogenic 1
- p.Thr300Ile Multiple submitters GABRA4-associated disorder
Benign 4
- p.Ala19Thr Multiple submitters
- c.87-21dup Single submitter
- p.His477= Single submitter
- p.Ile335= Single submitter
Likely benign 10
- c.273+7A>G Single submitter
- p.Arg426Gln Single submitter
- p.Arg438His Single submitter
- p.Arg476His Single submitter
- p.Leu542= Single submitter
- p.Pro465Ser Single submitter
- p.Thr125= Single submitter
- p.Val325= Single submitter
- p.Val470Ile Single submitter
- p.Thr355Ala No assertion criteria GABRA4-related disorder
Uncertain significance 56
- p.Gly112Ser Multiple submitters ⚠
- p.Thr300Asn Multiple submitters GABRA4-related developmental and epileptic encephalopathy ⚠
- c.495-1G>A Single submitter
- p.Ala287Ser Single submitter ⚠
- p.Ala364Thr Single submitter ⚠
- p.Ala382Asp Single submitter ⚠
- p.Ala454Pro Single submitter ⚠
- p.Ala468Pro Single submitter ⚠
- p.Ala522Gly Single submitter ⚠
- p.Arg135Ser Single submitter ⚠
- p.Arg156Lys Single submitter ⚠
- p.Arg175Lys Single submitter ⚠
- p.Asn402Lys Single submitter ⚠
- p.Asp399Glu Single submitter ⚠
- p.Glu217Asp Single submitter
- p.Glu370Asp Single submitter ⚠
- p.Glu46Lys Single submitter ⚠
- p.Glu90Val Single submitter ⚠
- p.Gly207Cys Single submitter ⚠
- p.Gly401Arg Single submitter ⚠
- p.His395Arg Single submitter ⚠
- p.His409Asp Single submitter ⚠
- p.Ile114Asn Single submitter
- p.Ile114Thr Single submitter ⚠
- p.Ile78Met Single submitter
- p.Leu273Pro Single submitter ⚠
- p.Lys109Arg Single submitter ⚠
- p.Lys126Gln Single submitter ⚠
- p.Lys126Glu Single submitter ⚠
- p.Lys517Glu Single submitter ⚠
- p.Lys520Ile Single submitter ⚠
- p.Met386Ile Single submitter ⚠
- p.Pro359Thr Single submitter ⚠
- p.Pro363Ser Single submitter GABRA4-related Epileptic and Neurodevelopmental Disorder ⚠
- p.Ser198Arg Single submitter ⚠
- p.Ser218Ala Single submitter ⚠
- p.Ser232Ala Single submitter ⚠
- p.Ser274Thr Single submitter ⚠
- p.Ser414Pro Single submitter ⚠
- p.Ser432Thr Single submitter ⚠
- p.Ser437fs Single submitter
- p.Ser446Cys Single submitter ⚠
- p.Ser506Leu Single submitter ⚠
- p.Ser513Pro Single submitter ⚠
- p.Ser516Asn Single submitter ⚠
- p.Ser552Arg Single submitter ⚠
- p.Thr203Asn Single submitter ⚠
- p.Thr240Ser Single submitter ⚠
- p.Thr461Ser Single submitter ⚠
- p.Thr492Ala Single submitter ⚠
- p.Tyr537Cys Single submitter ⚠
- p.Val212Ile Single submitter ⚠
- p.Val231Leu Single submitter
- p.Val290Ala Single submitter ⚠
- p.Val416Leu Single submitter ⚠
- p.Val478Met Single submitter ⚠