B3GNT2 — 37 ClinVar variants
All ClinVar germline B3GNT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
3 Benign · 4 Likely benign · 30 Uncertain significance
Full B3GNT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- B3GNT2 p.Arg162Gln Uncertain significance Single submitter
- B3GNT2 p.Arg283Gln Uncertain significance Single submitter
- B3GNT2 p.Arg318Gly Uncertain significance Single submitter
- B3GNT2 p.Asn67Lys Uncertain significance Single submitter
- B3GNT2 p.Asp136Gly Uncertain significance Single submitter
- B3GNT2 p.Asp207Gly Uncertain significance Single submitter
- B3GNT2 p.Glu83Lys Uncertain significance Single submitter
- B3GNT2 p.Glu97Lys Uncertain significance Single submitter
- B3GNT2 p.Gly166Ser Uncertain significance Single submitter
- B3GNT2 p.His191Leu Uncertain significance Single submitter
- B3GNT2 p.His253Tyr Uncertain significance Single submitter
- B3GNT2 p.Ile42Met Uncertain significance Single submitter
- B3GNT2 p.Leu343Phe Uncertain significance Single submitter
- B3GNT2 p.Lys140Glu Uncertain significance Single submitter
- B3GNT2 p.Pro186His Uncertain significance Single submitter
- B3GNT2 p.Pro54Arg Uncertain significance Single submitter
- B3GNT2 p.Ser52Pro Uncertain significance Single submitter
- B3GNT2 p.Thr185Lys Uncertain significance Single submitter
- B3GNT2 p.Thr81Lys Uncertain significance Single submitter
- B3GNT2 p.Val346Ile Uncertain significance Single submitter
- B3GNT2 p.Val41Ile Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- B3GNT2 p.Ala316Thr Uncertain significance Single submitter
- B3GNT2 p.Arg68Trp Uncertain significance Single submitter
- B3GNT2 p.Asn89Ser Uncertain significance Single submitter
- B3GNT2 p.Ile132Val Uncertain significance Single submitter
- B3GNT2 p.Lys379Ile Uncertain significance Single submitter
- B3GNT2 p.Pro135Leu Uncertain significance Single submitter
- B3GNT2 p.Ser104Leu Uncertain significance Single submitter
- B3GNT2 p.Ser368Cys Uncertain significance Single submitter
- B3GNT2 p.Ser388Phe Uncertain significance Single submitter
All B3GNT2 variants
Benign 3
- p.Asp136Glu Multiple submitters
- p.Pro187= Multiple submitters
- p.Thr103= Multiple submitters
Likely benign 4
- p.Leu198= Single submitter
- p.Leu345= No assertion criteria B3GNT2-related disorder
- p.Met25Val No assertion criteria B3GNT2-related disorder
- p.Thr81= No assertion criteria B3GNT2-related disorder
Uncertain significance 30
- p.Ala316Thr Single submitter ⚠
- p.Arg162Gln Single submitter ⚠
- p.Arg283Gln Single submitter ⚠
- p.Arg318Gly Single submitter ⚠
- p.Arg68Trp Single submitter ⚠
- p.Asn67Lys Single submitter ⚠
- p.Asn89Ser Single submitter ⚠
- p.Asp136Gly Single submitter ⚠
- p.Asp207Gly Single submitter ⚠
- p.Glu83Lys Single submitter ⚠
- p.Glu97Lys Single submitter ⚠
- p.Gly166Ser Single submitter ⚠
- p.His191Leu Single submitter ⚠
- p.His253Tyr Single submitter ⚠
- p.Ile132Val Single submitter ⚠
- p.Ile42Met Single submitter ⚠
- p.Leu343Phe Single submitter ⚠
- p.Lys140Glu Single submitter ⚠
- p.Lys379Ile Single submitter ⚠
- p.Pro135Leu Single submitter ⚠
- p.Pro186His Single submitter ⚠
- p.Pro54Arg Single submitter ⚠
- p.Ser104Leu Single submitter ⚠
- p.Ser368Cys Single submitter ⚠
- p.Ser388Phe Single submitter ⚠
- p.Ser52Pro Single submitter ⚠
- p.Thr185Lys Single submitter ⚠
- p.Thr81Lys Single submitter ⚠
- p.Val346Ile Single submitter ⚠
- p.Val41Ile Single submitter ⚠