B3GAT2 — 46 ClinVar variants
All ClinVar germline B3GAT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
46 Uncertain significance
Full B3GAT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- B3GAT2 p.Ala133Val Uncertain significance Single submitter
- B3GAT2 p.Ala4Glu Uncertain significance Single submitter
- B3GAT2 p.Arg146Gln Uncertain significance Single submitter
- B3GAT2 p.Arg146Gly Uncertain significance Single submitter
- B3GAT2 p.Arg168His Uncertain significance Single submitter
- B3GAT2 p.Arg265His Uncertain significance Single submitter
- B3GAT2 p.Arg302Gln Uncertain significance Single submitter
- B3GAT2 p.Arg47Gly Uncertain significance Single submitter
- B3GAT2 p.Arg55Ser Uncertain significance Single submitter
- B3GAT2 p.Arg56Lys Uncertain significance Single submitter
- B3GAT2 p.Arg56Ser Uncertain significance Single submitter
- B3GAT2 p.Arg70Trp Uncertain significance Single submitter
- B3GAT2 p.Gln252Glu Uncertain significance Single submitter
- B3GAT2 p.Gly213Val Uncertain significance Single submitter
- B3GAT2 p.Gly225Val Uncertain significance Single submitter
- B3GAT2 p.Gly46Val Uncertain significance Single submitter
- B3GAT2 p.Gly62Ala Uncertain significance Single submitter
- B3GAT2 p.His112Gln Uncertain significance Single submitter
- B3GAT2 p.His315Tyr Uncertain significance Single submitter
- B3GAT2 p.Ile114Leu Uncertain significance Single submitter
- B3GAT2 p.Ile114Val Uncertain significance Single submitter
- B3GAT2 p.Ile11Val Uncertain significance Single submitter
- B3GAT2 p.Ile321Leu Uncertain significance Single submitter
- B3GAT2 p.Leu164His Uncertain significance Single submitter
- B3GAT2 p.Leu54Arg Uncertain significance Single submitter
- B3GAT2 p.Lys2Asn Uncertain significance Single submitter
- B3GAT2 p.Lys313Gln Uncertain significance Single submitter
- B3GAT2 p.Pro151Ala Uncertain significance Single submitter
- B3GAT2 p.Pro178Thr Uncertain significance Single submitter
- B3GAT2 p.Pro288Leu Uncertain significance Single submitter
- B3GAT2 p.Pro32Leu Uncertain significance Single submitter
- B3GAT2 p.Pro36Ala Uncertain significance Single submitter
- B3GAT2 p.Ser41Phe Uncertain significance Single submitter
- B3GAT2 p.Thr27Met Uncertain significance Single submitter
- B3GAT2 p.Thr88Ile Uncertain significance Single submitter
- B3GAT2 p.Val206Phe Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- B3GAT2 p.Arg202Cys Uncertain significance Single submitter
- B3GAT2 p.Arg215Leu Uncertain significance Single submitter
- B3GAT2 p.Arg264His Uncertain significance Single submitter
- B3GAT2 p.Gly152Glu Uncertain significance Single submitter
- B3GAT2 p.Gly229Arg Uncertain significance Single submitter
- B3GAT2 p.Leu153Pro Uncertain significance Single submitter
- B3GAT2 p.Lys313Asn Uncertain significance Single submitter
- B3GAT2 p.Met198Leu Uncertain significance Single submitter
- B3GAT2 p.Pro92Gln Uncertain significance Single submitter
- B3GAT2 p.Thr200Ile Uncertain significance Single submitter
All B3GAT2 variants
Uncertain significance 46
- p.Ala133Val Single submitter ⚠
- p.Ala4Glu Single submitter ⚠
- p.Arg146Gln Single submitter ⚠
- p.Arg146Gly Single submitter ⚠
- p.Arg168His Single submitter ⚠
- p.Arg202Cys Single submitter ⚠
- p.Arg215Leu Single submitter ⚠
- p.Arg264His Single submitter ⚠
- p.Arg265His Single submitter ⚠
- p.Arg302Gln Single submitter ⚠
- p.Arg47Gly Single submitter ⚠
- p.Arg55Ser Single submitter ⚠
- p.Arg56Lys Single submitter ⚠
- p.Arg56Ser Single submitter ⚠
- p.Arg70Trp Single submitter ⚠
- p.Gln252Glu Single submitter ⚠
- p.Gly152Glu Single submitter ⚠
- p.Gly213Val Single submitter ⚠
- p.Gly225Val Single submitter ⚠
- p.Gly229Arg Single submitter ⚠
- p.Gly46Val Single submitter ⚠
- p.Gly62Ala Single submitter ⚠
- p.His112Gln Single submitter ⚠
- p.His315Tyr Single submitter ⚠
- p.Ile114Leu Single submitter ⚠
- p.Ile114Val Single submitter ⚠
- p.Ile11Val Single submitter ⚠
- p.Ile321Leu Single submitter ⚠
- p.Leu153Pro Single submitter ⚠
- p.Leu164His Single submitter ⚠
- p.Leu54Arg Single submitter ⚠
- p.Lys2Asn Single submitter ⚠
- p.Lys313Asn Single submitter ⚠
- p.Lys313Gln Single submitter ⚠
- p.Met198Leu Single submitter ⚠
- p.Pro151Ala Single submitter ⚠
- p.Pro178Thr Single submitter ⚠
- p.Pro288Leu Single submitter ⚠
- p.Pro32Leu Single submitter ⚠
- p.Pro36Ala Single submitter ⚠
- p.Pro92Gln Single submitter ⚠
- p.Ser41Phe Single submitter ⚠
- p.Thr200Ile Single submitter ⚠
- p.Thr27Met Single submitter ⚠
- p.Thr88Ile Single submitter ⚠
- p.Val206Phe Single submitter ⚠