GPBAR1 — 126 ClinVar variants
All ClinVar germline GPBAR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →
4 Benign · 1 Benign/Likely benign · 20 Likely benign · 101 Uncertain significance
Full GPBAR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 84
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 71
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GPBAR1 p.Ala113Val
Uncertain significance
Multiple submitters
GPBAR1-related disorder
- GPBAR1 p.Ala213Thr Uncertain significance Multiple submitters
- GPBAR1 p.Arg125Trp Uncertain significance Multiple submitters
- GPBAR1 p.Arg187Cys Uncertain significance Multiple submitters
- GPBAR1 p.Arg187His Uncertain significance Multiple submitters
-
GPBAR1 p.Arg308Trp
Uncertain significance
Multiple submitters
GPBAR1-related disorder
-
GPBAR1 p.Arg43His
Uncertain significance
Multiple submitters
GPBAR1-related disorder
-
GPBAR1 p.Arg80Gln
Uncertain significance
Multiple submitters
GPBAR1-related disorder
- GPBAR1 p.Arg80Trp Uncertain significance Multiple submitters
- GPBAR1 p.Gly312Ser Uncertain significance Multiple submitters
- GPBAR1 p.Leu66Val Uncertain significance Multiple submitters
- GPBAR1 p.Met112Val Uncertain significance Multiple submitters
- GPBAR1 p.Val188Met Uncertain significance Multiple submitters
- GPBAR1 p.Val88Ile Uncertain significance Multiple submitters
- GPBAR1 p.Ala143Thr Uncertain significance Single submitter
- GPBAR1 p.Ala215Asp Uncertain significance Single submitter
-
GPBAR1 p.Ala229Val
Uncertain significance
Single submitter
GPBAR1-related disorder
- GPBAR1 p.Ala271Thr Uncertain significance Single submitter
- GPBAR1 p.Arg194Cys Uncertain significance Single submitter
- GPBAR1 p.Arg194His Uncertain significance Single submitter
- GPBAR1 p.Arg201Gln Uncertain significance Single submitter
- GPBAR1 p.Arg204Gln Uncertain significance Single submitter
- GPBAR1 p.Arg204Trp Uncertain significance Single submitter
-
GPBAR1 p.Arg208His
Uncertain significance
Single submitter
GPBAR1-related disorder
- GPBAR1 p.Arg216Gln Uncertain significance Single submitter
- GPBAR1 p.Arg216Trp Uncertain significance Single submitter
- GPBAR1 p.Arg286His Uncertain significance Single submitter
- GPBAR1 p.Arg305Ser Uncertain significance Single submitter
- GPBAR1 p.Arg308Gln Uncertain significance Single submitter
- GPBAR1 p.Arg46His Uncertain significance Single submitter
- GPBAR1 p.Arg79Cys Uncertain significance Single submitter
- GPBAR1 p.Asp209Tyr Uncertain significance Single submitter
- GPBAR1 p.Asp284His Uncertain significance Single submitter
- GPBAR1 p.Asp326Asn Uncertain significance Single submitter
- GPBAR1 p.Cys155Arg Uncertain significance Single submitter
- GPBAR1 p.Gln222Lys Uncertain significance Single submitter
- GPBAR1 p.Gln77His Uncertain significance Single submitter
- GPBAR1 p.Gly134Ser Uncertain significance Single submitter
- GPBAR1 p.Gly179Ser Uncertain significance Single submitter
- GPBAR1 p.Gly179Val Uncertain significance Single submitter
- GPBAR1 p.Gly234Val Uncertain significance Single submitter
- GPBAR1 p.Gly281Val Uncertain significance Single submitter
- GPBAR1 p.Gly301Glu Uncertain significance Single submitter
- GPBAR1 p.Gly304Glu Uncertain significance Single submitter
- GPBAR1 p.His148Tyr Uncertain significance Single submitter
- GPBAR1 p.Leu173Phe Uncertain significance Single submitter
- GPBAR1 p.Leu175Arg Uncertain significance Single submitter
- GPBAR1 p.Leu184Phe Uncertain significance Single submitter
- GPBAR1 p.Leu246Phe Uncertain significance Single submitter
- GPBAR1 p.Leu329Met Uncertain significance Single submitter
- GPBAR1 p.Met280Arg Uncertain significance Single submitter
- GPBAR1 p.Pro12Ala Uncertain significance Single submitter
- GPBAR1 p.Pro142Leu Uncertain significance Single submitter
- GPBAR1 p.Pro255Arg Uncertain significance Single submitter
- GPBAR1 p.Ser272Gly Uncertain significance Single submitter
- GPBAR1 p.Tyr171Cys Uncertain significance Single submitter
- GPBAR1 p.Val114Ile Uncertain significance Single submitter
- GPBAR1 p.Val188Leu Uncertain significance Single submitter
- GPBAR1 p.Val241Met Uncertain significance Single submitter
-
GPBAR1 p.Ala289Thr
Uncertain significance
No assertion criteria
GPBAR1-related disorder
-
GPBAR1 p.Arg201Trp
Uncertain significance
No assertion criteria
GPBAR1-related disorder
-
GPBAR1 p.Arg254Cys
Uncertain significance
No assertion criteria
GPBAR1-related disorder
-
GPBAR1 p.Arg254His
Uncertain significance
No assertion criteria
GPBAR1-related disorder
-
GPBAR1 p.Glu203Lys
Uncertain significance
No assertion criteria
GPBAR1-related disorder
-
GPBAR1 p.Glu252Lys
Uncertain significance
No assertion criteria
GPBAR1-related disorder
-
GPBAR1 p.Gly51Ser
Uncertain significance
No assertion criteria
GPBAR1-related disorder
-
GPBAR1 p.Leu129Val
Uncertain significance
No assertion criteria
GPBAR1-related disorder
-
GPBAR1 p.Leu327Pro
Uncertain significance
No assertion criteria
GPBAR1-related disorder
-
GPBAR1 p.Leu90Ser
Uncertain significance
No assertion criteria
GPBAR1-related disorder
-
GPBAR1 p.Ser98Pro
Uncertain significance
No assertion criteria
GPBAR1-related disorder
-
GPBAR1 p.Val278Ile
Uncertain significance
No assertion criteria
GPBAR1-related disorder
Predictors split 13
The independent predictors disagree with each other — read with care.
- GPBAR1 p.Glu169Lys Benign Multiple submitters
-
GPBAR1 p.Glu203Val
Uncertain significance
Multiple submitters
GPBAR1-related disorder
- GPBAR1 p.Ser98Phe Uncertain significance Multiple submitters
- GPBAR1 p.Trp291Cys Uncertain significance Multiple submitters
-
GPBAR1 p.Tyr240Asp
Uncertain significance
Multiple submitters
GPBAR1-related disorder
- GPBAR1 p.Ala23Asp Uncertain significance Single submitter
- GPBAR1 p.Ala25Thr Uncertain significance Single submitter
- GPBAR1 p.Arg110Cys Uncertain significance Single submitter
- GPBAR1 p.Arg110His Uncertain significance Single submitter
- GPBAR1 p.Arg116Gly Uncertain significance Single submitter
- GPBAR1 p.Asn32Ser Uncertain significance Single submitter
- GPBAR1 p.Gly38Arg Uncertain significance Single submitter
- GPBAR1 p.Leu58Arg Uncertain significance Single submitter
All GPBAR1 variants
Benign 4
- p.Glu169Lys Multiple submitters ⚠
- p.Gly7= Multiple submitters
- p.Gln296Arg Single submitter
- p.Arg216= No assertion criteria GPBAR1-related disorder
Benign/Likely benign 1
- p.Ser212= Multiple submitters
Likely benign 20
- p.Ala217Pro Multiple submitters
- p.Ala153Val Single submitter
- p.Gly108Arg Single submitter
- p.Gly301= Single submitter
- p.Ile39= Single submitter
- p.Phe54del Single submitter
- c.*9C>T No assertion criteria GPBAR1-related disorder
- p.Ala133= No assertion criteria GPBAR1-related disorder
- p.Ala271= No assertion criteria GPBAR1-related disorder
- p.Ala274= No assertion criteria GPBAR1-related disorder
- p.Asn4= No assertion criteria GPBAR1-related disorder
- p.Gly51= No assertion criteria GPBAR1-related disorder
- p.Leu175= No assertion criteria GPBAR1-related disorder
- p.Leu202= No assertion criteria GPBAR1-related disorder
- p.Leu68= No assertion criteria GPBAR1-related disorder
- p.Leu74= No assertion criteria GPBAR1-related disorder
- p.Met112Ile No assertion criteria GPBAR1-related disorder
- p.Pro142= No assertion criteria GPBAR1-related disorder
- p.Thr131= No assertion criteria GPBAR1-related disorder
- p.Tyr240= No assertion criteria GPBAR1-related disorder
Uncertain significance 101
- p.Ala113Val Multiple submitters GPBAR1-related disorder ⚠
- p.Ala213Thr Multiple submitters ⚠
- p.Arg125Trp Multiple submitters ⚠
- p.Arg187Cys Multiple submitters ⚠
- p.Arg187His Multiple submitters ⚠
- p.Arg308Trp Multiple submitters GPBAR1-related disorder ⚠
- p.Arg43His Multiple submitters GPBAR1-related disorder ⚠
- p.Arg80Gln Multiple submitters GPBAR1-related disorder ⚠
- p.Arg80Trp Multiple submitters ⚠
- p.Glu203Val Multiple submitters GPBAR1-related disorder ⚠
- p.Gly312Ser Multiple submitters ⚠
- p.Leu66Val Multiple submitters ⚠
- p.Met112Val Multiple submitters ⚠
- p.Ser98Phe Multiple submitters ⚠
- p.Trp291Cys Multiple submitters ⚠
- p.Tyr240Asp Multiple submitters GPBAR1-related disorder ⚠
- p.Val188Met Multiple submitters ⚠
- p.Val325= Multiple submitters
- p.Val88Ile Multiple submitters ⚠
- c.-1G>A Single submitter
- p.Ala143Thr Single submitter ⚠
- p.Ala177= Single submitter
- p.Ala215Asp Single submitter ⚠
- p.Ala229Val Single submitter GPBAR1-related disorder ⚠
- p.Ala23Asp Single submitter ⚠
- p.Ala25Thr Single submitter ⚠
- p.Ala271Thr Single submitter ⚠
- p.Ala294= Single submitter
- p.Ala31= Single submitter
- p.Arg110Cys Single submitter ⚠
- p.Arg110His Single submitter ⚠
- p.Arg116Gly Single submitter ⚠
- p.Arg194Cys Single submitter ⚠
- p.Arg194His Single submitter ⚠
- p.Arg201Gln Single submitter ⚠
- p.Arg204Gln Single submitter ⚠
- p.Arg204Trp Single submitter ⚠
- p.Arg208His Single submitter GPBAR1-related disorder ⚠
- p.Arg216Gln Single submitter ⚠
- p.Arg216Trp Single submitter ⚠
- p.Arg286His Single submitter ⚠
- p.Arg305Ser Single submitter ⚠
- p.Arg308Gln Single submitter ⚠
- p.Arg46His Single submitter ⚠
- p.Arg79Cys Single submitter ⚠
- p.Asn32Ser Single submitter ⚠
- p.Asp209Tyr Single submitter ⚠
- p.Asp284His Single submitter ⚠
- p.Asp326Asn Single submitter ⚠
- p.Cys155Arg Single submitter ⚠
- p.Gln195Pro Single submitter
- p.Gln222Lys Single submitter ⚠
- p.Gln77His Single submitter ⚠
- p.Gly108= Single submitter
- p.Gly134Ser Single submitter ⚠
- p.Gly179Ser Single submitter ⚠
- p.Gly179Val Single submitter ⚠
- p.Gly234Val Single submitter ⚠
- p.Gly281Val Single submitter ⚠
- p.Gly301Glu Single submitter ⚠
- p.Gly304Glu Single submitter ⚠
- p.Gly38Arg Single submitter ⚠
- p.Gly73fs Single submitter
- p.His107= Single submitter
- p.His148Tyr Single submitter ⚠
- p.Leu173Phe Single submitter ⚠
- p.Leu175Arg Single submitter ⚠
- p.Leu184Phe Single submitter ⚠
- p.Leu24= Single submitter
- p.Leu246Phe Single submitter ⚠
- p.Leu282fs Single submitter
- p.Leu329Met Single submitter ⚠
- p.Leu58Arg Single submitter ⚠
- p.Leu63= Single submitter
- p.Met280Arg Single submitter ⚠
- p.Phe233= Single submitter
- p.Pro12Ala Single submitter ⚠
- p.Pro142Leu Single submitter ⚠
- p.Pro176= Single submitter
- p.Pro255Arg Single submitter ⚠
- p.Ser272Gly Single submitter ⚠
- p.Thr30= Single submitter
- p.Trp220Arg Single submitter
- p.Tyr111= Single submitter
- p.Tyr171Cys Single submitter ⚠
- p.Val114Ile Single submitter ⚠
- p.Val188Leu Single submitter ⚠
- p.Val241Met Single submitter ⚠
- p.Ala289Thr No assertion criteria GPBAR1-related disorder ⚠
- p.Arg201Trp No assertion criteria GPBAR1-related disorder ⚠
- p.Arg254Cys No assertion criteria GPBAR1-related disorder ⚠
- p.Arg254His No assertion criteria GPBAR1-related disorder ⚠
- p.Glu203Lys No assertion criteria GPBAR1-related disorder ⚠
- p.Glu252Lys No assertion criteria GPBAR1-related disorder ⚠
- p.Gly51Ser No assertion criteria GPBAR1-related disorder ⚠
- p.Leu129Val No assertion criteria GPBAR1-related disorder ⚠
- p.Leu327Pro No assertion criteria GPBAR1-related disorder ⚠
- p.Leu90Ser No assertion criteria GPBAR1-related disorder ⚠
- p.Ser98Pro No assertion criteria GPBAR1-related disorder ⚠
- p.Trp132Ter No assertion criteria GPBAR1-related disorder
- p.Val278Ile No assertion criteria GPBAR1-related disorder ⚠