GABRR1 — 65 ClinVar variants
All ClinVar germline GABRR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
1 Benign · 3 Likely benign · 61 Uncertain significance
Full GABRR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GABRR1 p.Ala466Val Uncertain significance Single submitter
- GABRR1 p.Arg148Trp Uncertain significance Single submitter
- GABRR1 p.Arg165Cys Uncertain significance Single submitter
- GABRR1 p.Arg165His Uncertain significance Single submitter
- GABRR1 p.Arg204Gln Uncertain significance Single submitter
- GABRR1 p.Arg242Gln Uncertain significance Single submitter
- GABRR1 p.Arg242Trp Uncertain significance Single submitter
- GABRR1 p.Arg278Cys Uncertain significance Single submitter
- GABRR1 p.Arg337Cys Uncertain significance Single submitter
- GABRR1 p.Arg449Lys Uncertain significance Single submitter
- GABRR1 p.Asp109Val Uncertain significance Single submitter
- GABRR1 p.Asp398Tyr Uncertain significance Single submitter
- GABRR1 p.Asp421His Uncertain significance Single submitter
- GABRR1 p.Asp85Gly Uncertain significance Single submitter
- GABRR1 p.Gln426Pro Uncertain significance Single submitter
- GABRR1 p.Gly17Arg Uncertain significance Single submitter
- GABRR1 p.Gly233Cys Uncertain significance Single submitter
- GABRR1 p.Gly399Ser Uncertain significance Single submitter
- GABRR1 p.His54Asn Uncertain significance Single submitter
- GABRR1 p.Ile346Val Uncertain significance Single submitter
- GABRR1 p.Ile450Phe Uncertain significance Single submitter
- GABRR1 p.Ile477Val Uncertain significance Single submitter
- GABRR1 p.Leu226Phe Uncertain significance Single submitter
- GABRR1 p.Leu271Pro Uncertain significance Single submitter
- GABRR1 p.Lys55Asn Uncertain significance Single submitter
- GABRR1 p.Met197Val Uncertain significance Single submitter
- GABRR1 p.Met324Thr Uncertain significance Single submitter
- GABRR1 p.Met423Leu Uncertain significance Single submitter
- GABRR1 p.Met424Leu Uncertain significance Single submitter
- GABRR1 p.Met7Thr Uncertain significance Single submitter
- GABRR1 p.Phe12Leu Uncertain significance Single submitter
- GABRR1 p.Pro71Leu Uncertain significance Single submitter
- GABRR1 p.Pro71Ser Uncertain significance Single submitter
- GABRR1 p.Ser163Pro Uncertain significance Single submitter
- GABRR1 p.Ser351Asn Uncertain significance Single submitter
- GABRR1 p.Ser447Asn Uncertain significance Single submitter
- GABRR1 p.Thr138Ile Uncertain significance Single submitter
- GABRR1 p.Thr288Asn Uncertain significance Single submitter
- GABRR1 p.Thr370Ile Uncertain significance Single submitter
- GABRR1 p.Trp475Gly Uncertain significance Single submitter
- GABRR1 p.Tyr401Cys Uncertain significance Single submitter
- GABRR1 p.Tyr474Cys Uncertain significance Single submitter
- GABRR1 p.Val296Ala Uncertain significance Single submitter
- GABRR1 p.Val355Met Uncertain significance Single submitter
- GABRR1 p.Val425Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- GABRR1 p.Arg307Cys Uncertain significance Single submitter
- GABRR1 p.Asp83Ala Uncertain significance Single submitter
- GABRR1 p.His162Arg Uncertain significance Single submitter
- GABRR1 p.Ile327Thr Uncertain significance Single submitter
- GABRR1 p.Ile462Thr Uncertain significance Single submitter
- GABRR1 p.Phe282Leu Uncertain significance Single submitter
- GABRR1 p.Thr329Met Uncertain significance Single submitter
- GABRR1 p.Val161Met Uncertain significance Single submitter
- GABRR1 p.Val331Met Uncertain significance Single submitter
- GABRR1 p.Val365Ile Uncertain significance Single submitter
All GABRR1 variants
Benign 1
- p.Asn175= Single submitter
Likely benign 3
- p.Ala395Val Single submitter
- p.Asn400Ser Single submitter
- p.Gly17= Single submitter
Uncertain significance 61
- p.Ala466Val Single submitter ⚠
- p.Arg148Trp Single submitter ⚠
- p.Arg165Cys Single submitter ⚠
- p.Arg165His Single submitter ⚠
- p.Arg204Gln Single submitter ⚠
- p.Arg242Gln Single submitter ⚠
- p.Arg242Trp Single submitter ⚠
- p.Arg278Cys Single submitter ⚠
- p.Arg307Cys Single submitter ⚠
- p.Arg337Cys Single submitter ⚠
- p.Arg449Lys Single submitter ⚠
- p.Asp109Val Single submitter ⚠
- p.Asp174Asn Single submitter
- p.Asp240Asn Single submitter
- p.Asp398Tyr Single submitter ⚠
- p.Asp421His Single submitter ⚠
- p.Asp83Ala Single submitter ⚠
- p.Asp85Gly Single submitter ⚠
- p.Gln426Pro Single submitter ⚠
- p.Gly17Arg Single submitter ⚠
- p.Gly233Cys Single submitter ⚠
- p.Gly399Ser Single submitter ⚠
- p.His162Arg Single submitter ⚠
- p.His54Asn Single submitter ⚠
- p.Ile327Thr Single submitter ⚠
- p.Ile346Val Single submitter ⚠
- p.Ile450Phe Single submitter ⚠
- p.Ile462Thr Single submitter ⚠
- p.Ile477Val Single submitter ⚠
- p.Leu226Phe Single submitter ⚠
- p.Leu271Pro Single submitter ⚠
- p.Lys151Gln Single submitter
- p.Lys55Asn Single submitter ⚠
- p.Met197Val Single submitter ⚠
- p.Met324Thr Single submitter ⚠
- p.Met423Leu Single submitter ⚠
- p.Met424Leu Single submitter ⚠
- p.Met7Thr Single submitter ⚠
- p.Phe12Leu Single submitter ⚠
- p.Phe282Leu Single submitter ⚠
- p.Pro71Leu Single submitter ⚠
- p.Pro71Ser Single submitter ⚠
- p.Ser163Pro Single submitter ⚠
- p.Ser351Asn Single submitter ⚠
- p.Ser447Asn Single submitter ⚠
- p.Thr138Ile Single submitter ⚠
- p.Thr288Asn Single submitter ⚠
- p.Thr329Met Single submitter ⚠
- p.Thr370Ile Single submitter ⚠
- p.Trp475Gly Single submitter ⚠
- p.Tyr401Cys Single submitter ⚠
- p.Tyr474Cys Single submitter ⚠
- p.Val114Ala Single submitter
- p.Val161Met Single submitter ⚠
- p.Val296Ala Single submitter ⚠
- p.Val331Met Single submitter ⚠
- p.Val338Ile Single submitter
- p.Val355Met Single submitter ⚠
- p.Val365Ile Single submitter ⚠
- p.Val425Met Single submitter ⚠
- p.Val99Ile Single submitter