B3GNTL1 — 46 ClinVar variants
All ClinVar germline B3GNTL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
1 Benign · 1 Likely benign · 44 Uncertain significance
Full B3GNTL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- B3GNTL1 p.Gln144Arg Uncertain significance Multiple submitters
- B3GNTL1 c.-2C>G Uncertain significance Single submitter
- B3GNTL1 p.Ala172Glu Uncertain significance Single submitter
- B3GNTL1 p.Ala248Val Uncertain significance Single submitter
- B3GNTL1 p.Ala87Thr Uncertain significance Single submitter
- B3GNTL1 p.Arg206His Uncertain significance Single submitter
- B3GNTL1 p.Arg236His Uncertain significance Single submitter
- B3GNTL1 p.Arg271Ser Uncertain significance Single submitter
- B3GNTL1 p.Arg297Thr Uncertain significance Single submitter
- B3GNTL1 p.Arg301Gln Uncertain significance Single submitter
- B3GNTL1 p.Arg311Gln Uncertain significance Single submitter
- B3GNTL1 p.Arg311Gly Uncertain significance Single submitter
- B3GNTL1 p.Asn158Asp Uncertain significance Single submitter
- B3GNTL1 p.Gln27Lys Uncertain significance Single submitter
- B3GNTL1 p.Glu113Lys Uncertain significance Single submitter
- B3GNTL1 p.Glu292Lys Uncertain significance Single submitter
- B3GNTL1 p.Gly202Ser Uncertain significance Single submitter
- B3GNTL1 p.Gly203Ser Uncertain significance Single submitter
- B3GNTL1 p.Gly268Ser Uncertain significance Single submitter
- B3GNTL1 p.Gly287Val Uncertain significance Single submitter
- B3GNTL1 p.His4Tyr Uncertain significance Single submitter
- B3GNTL1 p.Lys200Asn Uncertain significance Single submitter
- B3GNTL1 p.Lys46Glu Uncertain significance Single submitter
- B3GNTL1 p.Thr152Ile Uncertain significance Single submitter
- B3GNTL1 p.Val25Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- B3GNTL1 p.Arg245Cys Uncertain significance Single submitter
- B3GNTL1 p.Arg245Leu Uncertain significance Single submitter
- B3GNTL1 p.Asp45Glu Uncertain significance Single submitter
- B3GNTL1 p.Glu338Asp Uncertain significance Single submitter
- B3GNTL1 p.Gly62Ala Uncertain significance Single submitter
- B3GNTL1 p.Phe194Leu Uncertain significance Single submitter
- B3GNTL1 p.Phe327Ser Uncertain significance Single submitter
- B3GNTL1 p.Pro132Leu Uncertain significance Single submitter
All B3GNTL1 variants
Benign 1
- p.Leu265= Single submitter
Likely benign 1
- p.Ala248Thr Single submitter
Uncertain significance 44
- p.Gln144Arg Multiple submitters ⚠
- c.-2C>G Single submitter ⚠
- p.Ala172Glu Single submitter ⚠
- p.Ala248Val Single submitter ⚠
- p.Ala254Thr Single submitter
- p.Ala87Thr Single submitter ⚠
- p.Arg206His Single submitter ⚠
- p.Arg234Cys Single submitter
- p.Arg236His Single submitter ⚠
- p.Arg245Cys Single submitter ⚠
- p.Arg245Leu Single submitter ⚠
- p.Arg260Trp Single submitter
- p.Arg271Ser Single submitter ⚠
- p.Arg297Thr Single submitter ⚠
- p.Arg301Gln Single submitter ⚠
- p.Arg311Gln Single submitter ⚠
- p.Arg311Gly Single submitter ⚠
- p.Asn158Asp Single submitter ⚠
- p.Asp45Glu Single submitter ⚠
- p.Gln27Lys Single submitter ⚠
- p.Glu113Lys Single submitter ⚠
- p.Glu292Lys Single submitter ⚠
- p.Glu338Asp Single submitter ⚠
- p.Gly202Ser Single submitter ⚠
- p.Gly203Ser Single submitter ⚠
- p.Gly268Ser Single submitter ⚠
- p.Gly287Val Single submitter ⚠
- p.Gly62Ala Single submitter ⚠
- p.His4Tyr Single submitter ⚠
- p.Leu150Pro Single submitter
- p.Leu192Gln Single submitter
- p.Leu265Phe Single submitter
- p.Lys200Asn Single submitter ⚠
- p.Lys46Glu Single submitter ⚠
- p.Met103Lys Single submitter
- p.Phe194Leu Single submitter ⚠
- p.Phe327Ser Single submitter ⚠
- p.Pro132Leu Single submitter ⚠
- p.Ser170Leu Single submitter
- p.Ser47Pro Single submitter
- p.Thr152Ile Single submitter ⚠
- p.Thr161Met Single submitter
- p.Val25Ile Single submitter ⚠
- p.Val279Met Single submitter