BSG — 61 ClinVar variants
All ClinVar germline BSG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
9 Benign · 13 Likely benign · 39 Uncertain significance
Full BSG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BSG p.Ala163Thr Uncertain significance Single submitter
- BSG p.Ala360Thr Uncertain significance Single submitter
- BSG p.Ala4Gly Uncertain significance Single submitter
- BSG p.Ala4Thr Uncertain significance Single submitter
- BSG p.Arg282Gln Uncertain significance Single submitter
-
BSG p.Arg380Cys
Uncertain significance
Single submitter
BSG-related disorder
- BSG p.Arg380His Uncertain significance Single submitter
- BSG p.Asp196Asn Uncertain significance Single submitter
- BSG p.Gln186Lys Uncertain significance Single submitter
- BSG p.Gln216Arg Uncertain significance Single submitter
- BSG p.Gly175Ala Uncertain significance Single submitter
- BSG p.Gly185Ser Uncertain significance Single submitter
- BSG p.Gly281Val Uncertain significance Single submitter
- BSG p.Gly369Glu Uncertain significance Single submitter
- BSG p.His286Leu Uncertain significance Single submitter
- BSG p.Ile344Thr Uncertain significance Single submitter
- BSG p.Lys179Arg Uncertain significance Single submitter
- BSG p.Thr144Ala Uncertain significance Single submitter
- BSG p.Thr212Met Uncertain significance Single submitter
- BSG p.Val204Phe Uncertain significance Single submitter
- BSG p.Val241Ile Uncertain significance Single submitter
- BSG p.Val337Ala Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- BSG p.Ala225Pro Uncertain significance Single submitter
- BSG p.Arg300Gln Uncertain significance Single submitter
- BSG p.Arg349Trp Uncertain significance Single submitter
- BSG p.Asp260Tyr Uncertain significance Single submitter
- BSG p.Asp263Asn Uncertain significance Single submitter
- BSG p.Asp263Glu Uncertain significance Single submitter
- BSG p.Asp263Gly Uncertain significance Single submitter
- BSG p.Glu262Gly Likely benign Single submitter
- BSG p.Glu288Gly Uncertain significance Single submitter
- BSG p.Gly174Arg Uncertain significance Single submitter
- BSG p.Lys224Asn Uncertain significance Single submitter
- BSG p.Lys264Glu Uncertain significance Single submitter
- BSG p.Ser20Cys Uncertain significance Single submitter
- BSG p.Thr188Met Uncertain significance Single submitter
- BSG p.Thr259Pro Uncertain significance Single submitter
- BSG p.Thr315Met Uncertain significance Single submitter
- BSG p.Tyr256His Uncertain significance Single submitter
- BSG p.Val146Ile Likely benign Single submitter
- BSG p.Val226Met Uncertain significance Single submitter
- BSG p.Val379Ile Likely benign Single submitter
-
BSG p.Val26Phe
Benign
No assertion criteria
BSG-related disorder
All BSG variants
Benign 9
- c.*238C>T Multiple submitters
- p.Ser283= Multiple submitters
- p.Thr145= Single submitter
- c.1095-9G>A No assertion criteria BSG-related disorder
- p.Ala225= No assertion criteria BSG-related disorder
- p.Asp181= No assertion criteria BSG-related disorder
- p.Leu240= No assertion criteria BSG-related disorder
- p.Ser194= No assertion criteria BSG-related disorder
- p.Val26Phe No assertion criteria BSG-related disorder ⚠
Likely benign 13
- c.416-8C>T Single submitter
- p.Glu262Gly Single submitter ⚠
- p.Ile232Val Single submitter
- p.Lys191= Single submitter
- p.Lys307Glu Single submitter
- p.Phe6Leu Single submitter
- p.Val146Ile Single submitter ⚠
- p.Val379Ile Single submitter ⚠
- c.-89C>A No assertion criteria BSG-related disorder
- p.Ala122= No assertion criteria BSG-related disorder
- p.Asp148= No assertion criteria BSG-related disorder
- p.Ile342= No assertion criteria BSG-related disorder
- p.Pro29= No assertion criteria BSG-related disorder
Uncertain significance 39
- p.Ala163Thr Single submitter ⚠
- p.Ala225Pro Single submitter ⚠
- p.Ala360Thr Single submitter ⚠
- p.Ala4Gly Single submitter ⚠
- p.Ala4Thr Single submitter ⚠
- p.Arg282Gln Single submitter ⚠
- p.Arg300Gln Single submitter ⚠
- p.Arg349Trp Single submitter ⚠
- p.Arg380Cys Single submitter BSG-related disorder ⚠
- p.Arg380His Single submitter ⚠
- p.Asp196Asn Single submitter ⚠
- p.Asp260Tyr Single submitter ⚠
- p.Asp263Asn Single submitter ⚠
- p.Asp263Glu Single submitter ⚠
- p.Asp263Gly Single submitter ⚠
- p.Gln186Lys Single submitter ⚠
- p.Gln216Arg Single submitter ⚠
- p.Glu288Gly Single submitter ⚠
- p.Gly174Arg Single submitter ⚠
- p.Gly175Ala Single submitter ⚠
- p.Gly185Ser Single submitter ⚠
- p.Gly281Val Single submitter ⚠
- p.Gly369Glu Single submitter ⚠
- p.His286Leu Single submitter ⚠
- p.Ile344Thr Single submitter ⚠
- p.Lys179Arg Single submitter ⚠
- p.Lys224Asn Single submitter ⚠
- p.Lys264Glu Single submitter ⚠
- p.Ser20Cys Single submitter ⚠
- p.Thr144Ala Single submitter ⚠
- p.Thr188Met Single submitter ⚠
- p.Thr212Met Single submitter ⚠
- p.Thr259Pro Single submitter ⚠
- p.Thr315Met Single submitter ⚠
- p.Tyr256His Single submitter ⚠
- p.Val204Phe Single submitter ⚠
- p.Val226Met Single submitter ⚠
- p.Val241Ile Single submitter ⚠
- p.Val337Ala Single submitter ⚠