B3GALT1 — 34 ClinVar variants
All ClinVar germline B3GALT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
1 Pathogenic · 1 Likely benign · 32 Uncertain significance
Full B3GALT1 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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- B3GALT1 p.Ala19Thr Uncertain significance Single submitter
- B3GALT1 p.Arg199Gln Uncertain significance Single submitter
- B3GALT1 p.Arg296Lys Uncertain significance Single submitter
- B3GALT1 p.Asn286Ser Uncertain significance Single submitter
- B3GALT1 p.Asn59Tyr Uncertain significance Single submitter
- B3GALT1 p.Asn76Thr Uncertain significance Single submitter
- B3GALT1 p.Asp185Asn Uncertain significance Single submitter
- B3GALT1 p.Gln132Glu Uncertain significance Single submitter
- B3GALT1 p.Glu131Lys Uncertain significance Single submitter
- B3GALT1 p.Ile277Val Uncertain significance Single submitter
- B3GALT1 p.Ile314Met Uncertain significance Single submitter
- B3GALT1 p.Ile82Met Uncertain significance Single submitter
- B3GALT1 p.Leu117Phe Uncertain significance Single submitter
- B3GALT1 p.Leu250His Uncertain significance Single submitter
- B3GALT1 p.Leu294Phe Uncertain significance Single submitter
- B3GALT1 p.Leu41Ile Uncertain significance Single submitter
- B3GALT1 p.Leu41Val Uncertain significance Single submitter
- B3GALT1 p.Pro124Leu Uncertain significance Single submitter
- B3GALT1 p.Pro124Ser Uncertain significance Single submitter
- B3GALT1 p.Ser31Pro Uncertain significance Single submitter
- B3GALT1 p.Thr196Ile Uncertain significance Single submitter
- B3GALT1 p.Thr239Pro Uncertain significance Single submitter
- B3GALT1 p.Thr29Pro Uncertain significance Single submitter
- B3GALT1 p.Thr55Ser Uncertain significance Single submitter
- B3GALT1 p.Val130Leu Uncertain significance Single submitter
- B3GALT1 p.Val207Ile Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All B3GALT1 variants
Pathogenic 1
- p.Ser134Arg No assertion criteria hypercholesterolemia, familial, 1
Likely benign 1
- p.Ile25Val Single submitter
Uncertain significance 32
- p.Ala19Thr Single submitter ⚠
- p.Arg199Gln Single submitter ⚠
- p.Arg296Lys Single submitter ⚠
- p.Arg298Cys Single submitter ⚠
- p.Asn286Ser Single submitter ⚠
- p.Asn59Tyr Single submitter ⚠
- p.Asn76Thr Single submitter ⚠
- p.Asp185Asn Single submitter ⚠
- p.Gln132Glu Single submitter ⚠
- p.Glu131Lys Single submitter ⚠
- p.Ile277Val Single submitter ⚠
- p.Ile314Met Single submitter ⚠
- p.Ile82Met Single submitter ⚠
- p.Leu117Phe Single submitter ⚠
- p.Leu250His Single submitter ⚠
- p.Leu294Phe Single submitter ⚠
- p.Leu41Ile Single submitter ⚠
- p.Leu41Val Single submitter ⚠
- p.Leu83Phe Single submitter ⚠
- p.Met222Val Single submitter
- p.Pro124Leu Single submitter ⚠
- p.Pro124Ser Single submitter ⚠
- p.Ser31Pro Single submitter ⚠
- p.Thr100Ser Single submitter ⚠
- p.Thr196Ile Single submitter ⚠
- p.Thr239Pro Single submitter ⚠
- p.Thr29Pro Single submitter ⚠
- p.Thr55Ser Single submitter ⚠
- p.Val130Leu Single submitter ⚠
- p.Val130Met Single submitter ⚠
- p.Val207Ile Single submitter ⚠
- p.Phe181fs No assertion criteria prostate cancer