GABRQ — 73 ClinVar variants

All ClinVar germline GABRQ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →

1 Conflicting · 1 Benign · 9 Likely benign · 62 Uncertain significance

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

⚑ Evidence disagreements 56

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 1

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

GABRQ p.Thr179Ala Conflicting Single submitter

Predictors lean, ClinVar uncertain 48

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 GABRQ variants

Conflicting classifications of pathogenicity 1

p.Thr179Ala Single submitter ⚠

Benign 1

p.Ile478Phe Single submitter

Likely benign 9

p.Arg161= Single submitter
p.Gly415Ser Single submitter
p.His491Arg Single submitter
p.Ile281Val Single submitter
p.Ile300Val Single submitter
p.Ile322Val Single submitter
p.Ile401Ser Single submitter
p.Leu278= Single submitter
p.Gln441Lys No assertion criteria GABRQ-related disorder

Uncertain significance 62

p.Ala57Val Single submitter ⚠
p.Arg133Gln Single submitter ⚠
p.Arg133Trp Single submitter ⚠
p.Arg316Trp Single submitter ⚠
p.Arg359Gln Single submitter ⚠
p.Arg376His Single submitter ⚠
p.Arg461Gln Single submitter ⚠
p.Arg467Cys Single submitter ⚠
p.Arg483His Single submitter ⚠
p.Arg485Cys Single submitter ⚠
p.Arg485His Single submitter ⚠
p.Arg612Trp Single submitter ⚠
p.Arg8Pro Single submitter ⚠
p.Asn290Lys Single submitter
p.Asn321Ser Single submitter ⚠
p.Asn501Ser Single submitter ⚠
p.Asp168fs Single submitter
p.Asp597His Single submitter ⚠
p.Glu136Gly Single submitter ⚠
p.Glu422Lys Single submitter ⚠
p.Glu481Asp Single submitter ⚠
p.Glu502Asp Single submitter ⚠
p.Glu502Lys Single submitter ⚠
p.Gly237Glu Single submitter ⚠
p.Gly490Asp Single submitter ⚠
p.Gly490Ser Single submitter ⚠
p.His229Tyr Single submitter ⚠
p.Ile330Thr Single submitter ⚠
p.Ile624Val Single submitter ⚠
p.Leu146Pro Single submitter ⚠
p.Leu177Phe Single submitter
p.Leu257Pro Single submitter ⚠
p.Leu269Phe Single submitter ⚠
p.Leu544Phe Single submitter ⚠
p.Lys115Asn Single submitter ⚠
p.Lys540fs Single submitter
p.Met192Thr Single submitter ⚠
p.Met192Val Single submitter ⚠
p.Phe163fs Single submitter
p.Phe613Leu Single submitter ⚠
p.Pro141Ser Single submitter ⚠
p.Pro320Arg Single submitter ⚠
p.Pro411Arg Single submitter ⚠
p.Pro454Leu Single submitter ⚠
p.Pro584Ser Single submitter ⚠
p.Ser148Arg Single submitter ⚠
p.Ser203Gly Single submitter ⚠
p.Ser251Phe Single submitter
p.Ser27Gly Single submitter ⚠
p.Ser515Asn Single submitter ⚠
p.Ser574Arg Single submitter ⚠
p.Thr157Ala Single submitter ⚠
p.Thr207Met Single submitter ⚠
p.Thr239Met Single submitter ⚠
p.Thr309Ile Single submitter ⚠
p.Thr310Ile Single submitter ⚠
p.Thr591Asn Single submitter ⚠
p.Tyr132Ser Single submitter ⚠
p.Tyr464Cys Single submitter ⚠
p.Val371Ile Single submitter ⚠
p.Val91Ile Single submitter ⚠
p.Arg364Ter No assertion criteria