B3GAT1 — 34 ClinVar variants
All ClinVar germline B3GAT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
1 Benign · 33 Uncertain significance
Full B3GAT1 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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- B3GAT1 p.Ala302Asp Uncertain significance Single submitter
- B3GAT1 p.Arg175Ser Uncertain significance Single submitter
- B3GAT1 p.Arg263Gln Uncertain significance Single submitter
- B3GAT1 p.Arg289Gln Uncertain significance Single submitter
- B3GAT1 p.Arg313Trp Uncertain significance Single submitter
- B3GAT1 p.Asp296Glu Uncertain significance Single submitter
- B3GAT1 p.Asp329Asn Uncertain significance Single submitter
- B3GAT1 p.Asp42Glu Uncertain significance Single submitter
- B3GAT1 p.Gly156Val Uncertain significance Single submitter
- B3GAT1 p.Met105Val Uncertain significance Single submitter
- B3GAT1 p.Pro230Arg Uncertain significance Single submitter
- B3GAT1 p.Pro53Ala Uncertain significance Single submitter
- B3GAT1 p.Pro96Leu Uncertain significance Single submitter
- B3GAT1 p.Ser331Leu Uncertain significance Single submitter
- B3GAT1 p.Val216Met Uncertain significance Single submitter
- B3GAT1 p.Val318Leu Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- B3GAT1 p.Arg126Gln Uncertain significance Single submitter
- B3GAT1 p.Arg132Gly Uncertain significance Single submitter
- B3GAT1 p.Arg212Gly Uncertain significance Single submitter
- B3GAT1 p.Arg212Ser Uncertain significance Single submitter
- B3GAT1 p.Arg263Gly Uncertain significance Single submitter
- B3GAT1 p.Glu203Ala Uncertain significance Single submitter
- B3GAT1 p.Leu204Phe Uncertain significance Single submitter
- B3GAT1 p.Leu32Gln Uncertain significance Single submitter
- B3GAT1 p.Leu33Phe Uncertain significance Single submitter
- B3GAT1 p.Met168Ile Uncertain significance Single submitter
- B3GAT1 p.Thr103Met Uncertain significance Single submitter
- B3GAT1 p.Tyr71His Uncertain significance Single submitter
- B3GAT1 p.Val14Met Uncertain significance Single submitter
- B3GAT1 p.Val278Met Uncertain significance Single submitter
- B3GAT1 p.Val332Leu Uncertain significance Single submitter
- B3GAT1 p.Val64Leu Uncertain significance Single submitter
- B3GAT1 p.Val72Met Uncertain significance Single submitter
All B3GAT1 variants
Benign 1
- p.Tyr227= Multiple submitters
Uncertain significance 33
- p.Ala302Asp Single submitter ⚠
- p.Arg126Gln Single submitter ⚠
- p.Arg132Gly Single submitter ⚠
- p.Arg175Ser Single submitter ⚠
- p.Arg212Gly Single submitter ⚠
- p.Arg212Ser Single submitter ⚠
- p.Arg263Gln Single submitter ⚠
- p.Arg263Gly Single submitter ⚠
- p.Arg289Gln Single submitter ⚠
- p.Arg313Trp Single submitter ⚠
- p.Asp296Glu Single submitter ⚠
- p.Asp329Asn Single submitter ⚠
- p.Asp42Glu Single submitter ⚠
- p.Glu203Ala Single submitter ⚠
- p.Gly156Val Single submitter ⚠
- p.Leu204Phe Single submitter ⚠
- p.Leu32Gln Single submitter ⚠
- p.Leu33Phe Single submitter ⚠
- p.Met105Val Single submitter ⚠
- p.Met168Ile Single submitter ⚠
- p.Pro230Arg Single submitter ⚠
- p.Pro53Ala Single submitter ⚠
- p.Pro96Leu Single submitter ⚠
- p.Ser331Leu Single submitter ⚠
- p.Thr103Met Single submitter ⚠
- p.Tyr71His Single submitter ⚠
- p.Val14Met Single submitter ⚠
- p.Val216Met Single submitter ⚠
- p.Val278Met Single submitter ⚠
- p.Val318Leu Single submitter ⚠
- p.Val332Leu Single submitter ⚠
- p.Val64Leu Single submitter ⚠
- p.Val72Met Single submitter ⚠