GABRE — 93 ClinVar variants
All ClinVar germline GABRE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →
1 Pathogenic · 5 Benign · 13 Likely benign · 74 Uncertain significance
Full GABRE gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 75
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GABRE p.Ala345Thr Uncertain significance Single submitter
- GABRE p.Ala354Ser Uncertain significance Single submitter
- GABRE p.Ala388Thr Uncertain significance Single submitter
- GABRE p.Ala425Thr Uncertain significance Single submitter
- GABRE p.Arg309Gln Uncertain significance Single submitter
- GABRE p.Arg378Cys Uncertain significance Single submitter
- GABRE p.Arg381His Uncertain significance Single submitter
- GABRE p.Arg389His Uncertain significance Single submitter
- GABRE p.Arg391His Uncertain significance Single submitter
- GABRE p.Arg438Cys Uncertain significance Single submitter
- GABRE p.Arg472Cys Uncertain significance Single submitter
- GABRE p.Arg479His Uncertain significance Single submitter
- GABRE p.Asn505Ser Uncertain significance Single submitter
- GABRE p.Asp192Val Uncertain significance Single submitter
- GABRE p.Asp462Asn Uncertain significance Single submitter
- GABRE p.Cys209Phe Uncertain significance Single submitter
- GABRE p.Cys397Arg Uncertain significance Single submitter
- GABRE p.Glu165Lys Uncertain significance Single submitter
- GABRE p.Glu21Lys Uncertain significance Single submitter
- GABRE p.Glu46Lys Uncertain significance Single submitter
- GABRE p.Glu60Asp Uncertain significance Single submitter
- GABRE p.Gly194Arg Uncertain significance Single submitter
- GABRE p.Gly194Val Uncertain significance Single submitter
- GABRE p.Leu86Arg Uncertain significance Single submitter
- GABRE p.Lys376Glu Uncertain significance Single submitter
- GABRE p.Lys451Arg Uncertain significance Single submitter
- GABRE p.Lys451Asn Uncertain significance Single submitter
- GABRE p.Met204Ile Uncertain significance Single submitter
- GABRE p.Phe488Leu Uncertain significance Single submitter
- GABRE p.Pro153Leu Uncertain significance Single submitter
- GABRE p.Pro40Leu Uncertain significance Single submitter
- GABRE p.Pro421Arg Uncertain significance Single submitter
- GABRE p.Ser415Arg Uncertain significance Single submitter
- GABRE p.Ser430Gly Uncertain significance Single submitter
- GABRE p.Ser63Asn Uncertain significance Single submitter
- GABRE p.Thr292Lys Uncertain significance Single submitter
- GABRE p.Trp449Cys Uncertain significance Single submitter
- GABRE p.Val103Ile Uncertain significance Single submitter
- GABRE p.Val273Met Uncertain significance Single submitter
- GABRE p.Val290Leu Uncertain significance Single submitter
- GABRE p.Val349Leu Uncertain significance Single submitter
- GABRE p.Val8Ala Uncertain significance Single submitter
Predictors split 33
The independent predictors disagree with each other — read with care.
- GABRE p.Arg176His Uncertain significance Multiple submitters
- GABRE p.Ala193Gly Uncertain significance Single submitter
- GABRE p.Ala193Thr Uncertain significance Single submitter
- GABRE p.Ala193Val Uncertain significance Single submitter
- GABRE p.Ala354Thr Uncertain significance Single submitter
- GABRE p.Ala359Ser Uncertain significance Single submitter
- GABRE p.Ala398Val Uncertain significance Single submitter
- GABRE p.Arg328His Uncertain significance Single submitter
- GABRE p.Arg385Cys Uncertain significance Single submitter
- GABRE p.Arg389Leu Uncertain significance Single submitter
- GABRE p.Arg391Cys Uncertain significance Single submitter
-
GABRE p.Arg393Cys
Uncertain significance
Single submitter
GABRE-related epilepsy
- GABRE p.Arg393Gly Uncertain significance Single submitter
- GABRE p.Arg395Gln Uncertain significance Single submitter
- GABRE p.Arg438His Likely benign Single submitter
- GABRE p.Arg479Leu Uncertain significance Single submitter
- GABRE p.Arg73Cys Uncertain significance Single submitter
- GABRE p.Arg73His Uncertain significance Single submitter
- GABRE p.Asp113Asn Uncertain significance Single submitter
- GABRE p.Cys458Arg Uncertain significance Single submitter
- GABRE p.Glu138Gly Uncertain significance Single submitter
- GABRE p.Gly62Trp Uncertain significance Single submitter
- GABRE p.Ile118Thr Uncertain significance Single submitter
- GABRE p.Leu10Val Uncertain significance Single submitter
- GABRE p.Met114Val Uncertain significance Single submitter
- GABRE p.Met204Val Uncertain significance Single submitter
- GABRE p.Ser274Asn Uncertain significance Single submitter
- GABRE p.Thr322Met Uncertain significance Single submitter
-
GABRE p.Val147Met
Uncertain significance
Single submitter
GABRE-related disorder
- GABRE p.Val250Met Uncertain significance Single submitter
- GABRE p.Val96Met Uncertain significance Single submitter
- GABRE p.Val99Ala Uncertain significance Single submitter
-
GABRE p.Gly278Ala
Likely benign
No assertion criteria
GABRE-related disorder
All GABRE variants
Pathogenic 1
- p.Tyr133Ter No assertion criteria Short stature
Benign 5
- p.Glu435Asp Multiple submitters
- p.Gly62= Multiple submitters
- p.Leu323= Multiple submitters
- p.Ser102Ala Multiple submitters
- p.Arg452Gly Single submitter
Likely benign 13
- p.Asn134= Multiple submitters
- c.343-5A>G Single submitter
- c.56+7C>G Single submitter
- c.937+6A>T Single submitter
- p.Arg276= Single submitter
- p.Arg34His Single submitter
- p.Arg438His Single submitter ⚠
- p.Glu52Lys Single submitter
- p.Gly66Ser Single submitter
- p.Pro332= Single submitter
- p.Thr136Ser Single submitter
- p.Arg472His No assertion criteria GABRE-related disorder
- p.Gly278Ala No assertion criteria GABRE-related disorder ⚠
Uncertain significance 74
- p.Arg176His Multiple submitters ⚠
- p.Ala193Gly Single submitter ⚠
- p.Ala193Thr Single submitter ⚠
- p.Ala193Val Single submitter ⚠
- p.Ala345Thr Single submitter ⚠
- p.Ala354Ser Single submitter ⚠
- p.Ala354Thr Single submitter ⚠
- p.Ala359Ser Single submitter ⚠
- p.Ala388Thr Single submitter ⚠
- p.Ala398Val Single submitter ⚠
- p.Ala425Thr Single submitter ⚠
- p.Arg309Gln Single submitter ⚠
- p.Arg328His Single submitter ⚠
- p.Arg378Cys Single submitter ⚠
- p.Arg381His Single submitter ⚠
- p.Arg385Cys Single submitter ⚠
- p.Arg389His Single submitter ⚠
- p.Arg389Leu Single submitter ⚠
- p.Arg391Cys Single submitter ⚠
- p.Arg391His Single submitter ⚠
- p.Arg393Cys Single submitter GABRE-related epilepsy ⚠
- p.Arg393Gly Single submitter ⚠
- p.Arg395Gln Single submitter ⚠
- p.Arg438Cys Single submitter ⚠
- p.Arg472Cys Single submitter ⚠
- p.Arg479His Single submitter ⚠
- p.Arg479Leu Single submitter ⚠
- p.Arg73Cys Single submitter ⚠
- p.Arg73His Single submitter ⚠
- p.Asn505Ser Single submitter ⚠
- p.Asp113Asn Single submitter ⚠
- p.Asp192Val Single submitter ⚠
- p.Asp462Asn Single submitter ⚠
- p.Cys209Phe Single submitter ⚠
- p.Cys397Arg Single submitter ⚠
- p.Cys458Arg Single submitter ⚠
- p.Glu138Gly Single submitter ⚠
- p.Glu165Lys Single submitter ⚠
- p.Glu21Lys Single submitter ⚠
- p.Glu46Lys Single submitter ⚠
- p.Glu60Asp Single submitter ⚠
- p.Gly194Arg Single submitter ⚠
- p.Gly194Val Single submitter ⚠
- p.Gly62Trp Single submitter ⚠
- p.Ile118Thr Single submitter ⚠
- p.Leu10Val Single submitter ⚠
- p.Leu86Arg Single submitter ⚠
- p.Lys376Glu Single submitter ⚠
- p.Lys451Arg Single submitter ⚠
- p.Lys451Asn Single submitter ⚠
- p.Met114Val Single submitter ⚠
- p.Met204Ile Single submitter ⚠
- p.Met204Val Single submitter ⚠
- p.Phe488Leu Single submitter ⚠
- p.Pro153Leu Single submitter ⚠
- p.Pro40Leu Single submitter ⚠
- p.Pro421Arg Single submitter ⚠
- p.Ser274Asn Single submitter ⚠
- p.Ser415Arg Single submitter ⚠
- p.Ser430Gly Single submitter ⚠
- p.Ser63Asn Single submitter ⚠
- p.Thr292Lys Single submitter ⚠
- p.Thr322Met Single submitter ⚠
- p.Trp449Cys Single submitter ⚠
- p.Val103Ile Single submitter ⚠
- p.Val147Met Single submitter GABRE-related disorder ⚠
- p.Val250Met Single submitter ⚠
- p.Val273Met Single submitter ⚠
- p.Val290Leu Single submitter ⚠
- p.Val349Leu Single submitter ⚠
- p.Val8Ala Single submitter ⚠
- p.Val96Met Single submitter ⚠
- p.Val99Ala Single submitter ⚠
- p.Thr325= No assertion criteria