B3GALT2 — 45 ClinVar variants
All ClinVar germline B3GALT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
4 Likely benign · 41 Uncertain significance
Full B3GALT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- B3GALT2 p.Ala180Val Uncertain significance Single submitter
- B3GALT2 p.Ala18Val Uncertain significance Single submitter
- B3GALT2 p.Ala413Val Uncertain significance Single submitter
- B3GALT2 p.Arg171Trp Uncertain significance Single submitter
- B3GALT2 p.Arg336His Uncertain significance Single submitter
- B3GALT2 p.Arg417His Uncertain significance Single submitter
- B3GALT2 p.Arg417Pro Uncertain significance Single submitter
- B3GALT2 p.Arg65Gln Uncertain significance Single submitter
- B3GALT2 p.Arg68Gln Uncertain significance Single submitter
- B3GALT2 p.Arg80Gln Uncertain significance Single submitter
- B3GALT2 p.Arg92Lys Uncertain significance Single submitter
- B3GALT2 p.Asn264Ser Uncertain significance Single submitter
- B3GALT2 p.Asn395Lys Uncertain significance Single submitter
- B3GALT2 p.Asp293Glu Uncertain significance Single submitter
- B3GALT2 p.Gln184His Uncertain significance Single submitter
- B3GALT2 p.Glu113Asp Uncertain significance Single submitter
- B3GALT2 p.Glu260Val Uncertain significance Single submitter
- B3GALT2 p.His135Tyr Uncertain significance Single submitter
- B3GALT2 p.Ile28Leu Uncertain significance Single submitter
- B3GALT2 p.Ile353Thr Uncertain significance Single submitter
- B3GALT2 p.Leu206Val Uncertain significance Single submitter
- B3GALT2 p.Lys126Arg Uncertain significance Single submitter
- B3GALT2 p.Ser117Arg Uncertain significance Single submitter
- B3GALT2 p.Thr186Ile Uncertain significance Single submitter
- B3GALT2 p.Tyr200His Uncertain significance Single submitter
- B3GALT2 p.Tyr261His Uncertain significance Single submitter
- B3GALT2 p.Val34Ala Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- B3GALT2 p.Ala287Glu Uncertain significance Single submitter
- B3GALT2 p.Arg203Cys Uncertain significance Single submitter
- B3GALT2 p.Arg24Cys Uncertain significance Single submitter
- B3GALT2 p.Arg24His Uncertain significance Single submitter
- B3GALT2 p.Arg284Gln Uncertain significance Single submitter
- B3GALT2 p.Gln147Glu Uncertain significance Single submitter
- B3GALT2 p.Gly127Cys Uncertain significance Single submitter
- B3GALT2 p.His275Tyr Uncertain significance Single submitter
- B3GALT2 p.Ile183Thr Uncertain significance Single submitter
- B3GALT2 p.Ile391Thr Uncertain significance Single submitter
- B3GALT2 p.Leu351Met Uncertain significance Single submitter
- B3GALT2 p.Pro304Ser Uncertain significance Single submitter
- B3GALT2 p.Ser320Thr Uncertain significance Single submitter
- B3GALT2 p.Tyr241His Uncertain significance Single submitter
All B3GALT2 variants
Likely benign 4
- p.Gly111= Single submitter
- p.Gly51= Single submitter
- p.Pro50= Single submitter
- p.Tyr123Asp Single submitter hyperparathyroidism 2 with jaw tumors
Uncertain significance 41
- p.Ala180Val Single submitter ⚠
- p.Ala18Val Single submitter ⚠
- p.Ala287Glu Single submitter ⚠
- p.Ala413Val Single submitter ⚠
- p.Arg171Trp Single submitter ⚠
- p.Arg203Cys Single submitter ⚠
- p.Arg24Cys Single submitter ⚠
- p.Arg24His Single submitter ⚠
- p.Arg284Gln Single submitter ⚠
- p.Arg336His Single submitter ⚠
- p.Arg417His Single submitter ⚠
- p.Arg417Pro Single submitter ⚠
- p.Arg65Gln Single submitter ⚠
- p.Arg68Gln Single submitter ⚠
- p.Arg80Gln Single submitter ⚠
- p.Arg92Lys Single submitter ⚠
- p.Asn264Ser Single submitter ⚠
- p.Asn395Lys Single submitter ⚠
- p.Asp293Glu Single submitter ⚠
- p.Gln147Glu Single submitter ⚠
- p.Gln184His Single submitter ⚠
- p.Glu113Asp Single submitter ⚠
- p.Glu260Val Single submitter ⚠
- p.Gly127Cys Single submitter ⚠
- p.His135Tyr Single submitter ⚠
- p.His275Tyr Single submitter ⚠
- p.Ile183Thr Single submitter ⚠
- p.Ile28Leu Single submitter ⚠
- p.Ile353Thr Single submitter ⚠
- p.Ile391Thr Single submitter ⚠
- p.Leu206Val Single submitter ⚠
- p.Leu351Met Single submitter ⚠
- p.Lys126Arg Single submitter ⚠
- p.Pro304Ser Single submitter ⚠
- p.Ser117Arg Single submitter ⚠
- p.Ser320Thr Single submitter ⚠
- p.Thr186Ile Single submitter ⚠
- p.Tyr200His Single submitter ⚠
- p.Tyr241His Single submitter ⚠
- p.Tyr261His Single submitter ⚠
- p.Val34Ala Single submitter ⚠