B4GALT3 — 37 ClinVar variants
All ClinVar germline B4GALT3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
1 Likely benign · 36 Uncertain significance
Full B4GALT3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- B4GALT3 p.Ala340Val Uncertain significance Single submitter
- B4GALT3 p.Ala364Val Uncertain significance Single submitter
- B4GALT3 p.Ala388Ser Uncertain significance Single submitter
- B4GALT3 p.Ala70Val Uncertain significance Single submitter
- B4GALT3 p.Arg107Trp Uncertain significance Single submitter
- B4GALT3 p.Arg134Trp Uncertain significance Single submitter
- B4GALT3 p.Arg139His Uncertain significance Single submitter
- B4GALT3 p.Arg151His Uncertain significance Single submitter
- B4GALT3 p.Arg40Gln Uncertain significance Single submitter
- B4GALT3 p.Asn253Ser Uncertain significance Single submitter
- B4GALT3 p.Asp243Asn Uncertain significance Single submitter
- B4GALT3 p.Cys190Ser Uncertain significance Single submitter
- B4GALT3 p.Gln325Glu Uncertain significance Single submitter
- B4GALT3 p.Gln42Glu Uncertain significance Single submitter
- B4GALT3 p.Gly379Ala Uncertain significance Single submitter
- B4GALT3 p.Gly67Asp Uncertain significance Single submitter
- B4GALT3 p.Leu6Pro Uncertain significance Single submitter
- B4GALT3 p.Lys290Asn Uncertain significance Single submitter
- B4GALT3 p.Pro211Arg Uncertain significance Single submitter
- B4GALT3 p.Pro359Arg Uncertain significance Single submitter
- B4GALT3 p.Pro68Leu Uncertain significance Single submitter
- B4GALT3 p.Pro68Ser Uncertain significance Single submitter
- B4GALT3 p.Thr281Ala Uncertain significance Single submitter
- B4GALT3 p.Val88Leu Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- B4GALT3 p.Arg104Trp Uncertain significance Single submitter
- B4GALT3 p.Arg122His Uncertain significance Single submitter
- B4GALT3 p.Arg124Gln Uncertain significance Single submitter
- B4GALT3 p.Arg139Pro Uncertain significance Single submitter
- B4GALT3 p.Arg184His Uncertain significance Single submitter
- B4GALT3 p.Arg212Trp Uncertain significance Single submitter
- B4GALT3 p.Arg215His Uncertain significance Single submitter
- B4GALT3 p.Arg366Cys Uncertain significance Single submitter
- B4GALT3 p.Arg373Trp Uncertain significance Single submitter
- B4GALT3 p.Leu271Val Uncertain significance Single submitter
- B4GALT3 p.Thr168Ile Uncertain significance Single submitter
All B4GALT3 variants
Likely benign 1
- p.Asp41Glu Single submitter
Uncertain significance 36
- p.Ala340Val Single submitter ⚠
- p.Ala364Val Single submitter ⚠
- p.Ala388Ser Single submitter ⚠
- p.Ala70Val Single submitter ⚠
- p.Arg104Trp Single submitter ⚠
- p.Arg107Trp Single submitter ⚠
- p.Arg122His Single submitter ⚠
- p.Arg124Gln Single submitter ⚠
- p.Arg134Trp Single submitter ⚠
- p.Arg139His Single submitter ⚠
- p.Arg139Pro Single submitter ⚠
- p.Arg151His Single submitter ⚠
- p.Arg184His Single submitter ⚠
- p.Arg212Trp Single submitter ⚠
- p.Arg215His Single submitter ⚠
- p.Arg366Cys Single submitter ⚠
- p.Arg373Trp Single submitter ⚠
- p.Arg40Gln Single submitter ⚠
- p.Asn253Ser Single submitter ⚠
- p.Asn320His Single submitter
- p.Asp243Asn Single submitter ⚠
- p.Cys190Ser Single submitter ⚠
- p.Gln325Glu Single submitter ⚠
- p.Gln42Glu Single submitter ⚠
- p.Gly379Ala Single submitter ⚠
- p.Gly67Asp Single submitter ⚠
- p.Leu271Val Single submitter ⚠
- p.Leu6Pro Single submitter ⚠
- p.Lys290Asn Single submitter ⚠
- p.Pro211Arg Single submitter ⚠
- p.Pro359Arg Single submitter ⚠
- p.Pro68Leu Single submitter ⚠
- p.Pro68Ser Single submitter ⚠
- p.Thr168Ile Single submitter ⚠
- p.Thr281Ala Single submitter ⚠
- p.Val88Leu Single submitter ⚠