B3GALNT1 — 39 ClinVar variants
All ClinVar germline B3GALNT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
2 Benign · 6 Likely benign · 31 Uncertain significance
Full B3GALNT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- B3GALNT1 p.Ala308Pro Uncertain significance Single submitter
- B3GALNT1 p.Asn172Asp Uncertain significance Single submitter
- B3GALNT1 p.Asn42Ser Uncertain significance Single submitter
- B3GALNT1 p.Asn77Lys Uncertain significance Single submitter
- B3GALNT1 p.Asp90Tyr Uncertain significance Single submitter
- B3GALNT1 p.Cys73Tyr Uncertain significance Single submitter
- B3GALNT1 p.Gln120Lys Uncertain significance Single submitter
- B3GALNT1 p.Gln61Lys Uncertain significance Single submitter
- B3GALNT1 p.Gly258Arg Uncertain significance Single submitter
- B3GALNT1 p.His330Arg Uncertain significance Single submitter
- B3GALNT1 p.His70Arg Uncertain significance Single submitter
- B3GALNT1 p.His75Pro Uncertain significance Single submitter
- B3GALNT1 p.His75Tyr Uncertain significance Single submitter
- B3GALNT1 p.Ile253Met Uncertain significance Single submitter
- B3GALNT1 p.Leu138Phe Uncertain significance Single submitter
- B3GALNT1 p.Leu139Arg Uncertain significance Single submitter
- B3GALNT1 p.Lys174Arg Uncertain significance Single submitter
- B3GALNT1 p.Met245Ile Uncertain significance Single submitter
- B3GALNT1 p.Met256Val Uncertain significance Single submitter
- B3GALNT1 p.Ser21Ile Uncertain significance Single submitter
- B3GALNT1 p.Thr167Ala Uncertain significance Single submitter
- B3GALNT1 p.Thr222Asn Uncertain significance Single submitter
- B3GALNT1 p.Thr66Ile Uncertain significance Single submitter
- B3GALNT1 p.Thr85Ile Uncertain significance Single submitter
- B3GALNT1 p.Tyr55Cys Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All B3GALNT1 variants
Benign 2
- c.-27G>A No assertion criteria B3GALNT1-related disorder
- c.-34-3271T>A No assertion criteria B3GALNT1-related disorder
Likely benign 6
- p.Val305= Single submitter
- c.-109C>T No assertion criteria B3GALNT1-related disorder
- c.-206T>G No assertion criteria B3GALNT1-related disorder
- c.-220-9_-220-7del No assertion criteria B3GALNT1-related disorder
- c.-237T>G No assertion criteria B3GALNT1-related disorder
- c.-34-3259G>T No assertion criteria B3GALNT1-related disorder
Uncertain significance 31
- p.Ala308Pro Single submitter ⚠
- p.Asn172Asp Single submitter ⚠
- p.Asn42Ser Single submitter ⚠
- p.Asn77Lys Single submitter ⚠
- p.Asp248Tyr Single submitter ⚠
- p.Asp90Tyr Single submitter ⚠
- p.Cys73Tyr Single submitter ⚠
- p.Gln120Lys Single submitter ⚠
- p.Gln61Lys Single submitter ⚠
- p.Gly258Arg Single submitter ⚠
- p.His330Arg Single submitter ⚠
- p.His70Arg Single submitter ⚠
- p.His75Pro Single submitter ⚠
- p.His75Tyr Single submitter ⚠
- p.Ile253Met Single submitter ⚠
- p.Ile97Met Single submitter
- p.Leu138Phe Single submitter ⚠
- p.Leu139Arg Single submitter ⚠
- p.Lys174Arg Single submitter ⚠
- p.Met245Ile Single submitter ⚠
- p.Met256Val Single submitter ⚠
- p.Phe234Leu Single submitter ⚠
- p.Ser21Ile Single submitter ⚠
- p.Thr167Ala Single submitter ⚠
- p.Thr222Asn Single submitter ⚠
- p.Thr66Ile Single submitter ⚠
- p.Thr85Ile Single submitter ⚠
- p.Tyr254Cys Single submitter ⚠
- p.Tyr55Cys Single submitter ⚠
- p.Val112Phe Single submitter ⚠
- p.Val191Met Single submitter