B4GALT2 — 53 ClinVar variants
All ClinVar germline B4GALT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
2 Likely benign · 51 Uncertain significance
Full B4GALT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- B4GALT2 p.Ala15Val Uncertain significance Single submitter
- B4GALT2 p.Ala74Thr Uncertain significance Single submitter
- B4GALT2 p.Ala91Gly Uncertain significance Single submitter
- B4GALT2 p.Arg120Trp Uncertain significance Single submitter
- B4GALT2 p.Arg171Trp Uncertain significance Single submitter
- B4GALT2 p.Arg229Cys Uncertain significance Single submitter
- B4GALT2 p.Arg229His Uncertain significance Single submitter
- B4GALT2 p.Arg302Gln Uncertain significance Single submitter
- B4GALT2 p.Arg307Cys Uncertain significance Single submitter
- B4GALT2 p.Arg343Gln Uncertain significance Single submitter
- B4GALT2 p.Arg44His Uncertain significance Single submitter
- B4GALT2 p.Arg48Gln Uncertain significance Single submitter
- B4GALT2 p.Arg69Gln Uncertain significance Single submitter
- B4GALT2 p.Arg69Trp Uncertain significance Single submitter
- B4GALT2 p.Asn273Ser Uncertain significance Single submitter
- B4GALT2 p.Asn71Asp Uncertain significance Single submitter
- B4GALT2 p.Asp187Glu Uncertain significance Single submitter
- B4GALT2 p.Asp232Asn Uncertain significance Single submitter
- B4GALT2 p.Gly231Ser Uncertain significance Single submitter
- B4GALT2 p.Gly78Arg Uncertain significance Single submitter
- B4GALT2 p.Gly88Cys Uncertain significance Single submitter
- B4GALT2 p.Gly88Ser Uncertain significance Single submitter
- B4GALT2 p.His55Arg Uncertain significance Single submitter
- B4GALT2 p.Ile168Val Uncertain significance Single submitter
- B4GALT2 p.Ile358Thr Uncertain significance Single submitter
- B4GALT2 p.Leu17Ile Uncertain significance Single submitter
- B4GALT2 p.Pro167Thr Uncertain significance Single submitter
- B4GALT2 p.Pro353Ala Uncertain significance Single submitter
- B4GALT2 p.Ser367Leu Uncertain significance Single submitter
- B4GALT2 p.Thr140Ile Uncertain significance Single submitter
- B4GALT2 p.Thr330Met Uncertain significance Single submitter
- B4GALT2 p.Val105Ala Uncertain significance Single submitter
- B4GALT2 p.Val128Met Uncertain significance Single submitter
- B4GALT2 p.Val28Ile Uncertain significance Single submitter
- B4GALT2 p.Val346Ile Uncertain significance Single submitter
- B4GALT2 p.Val349Met Uncertain significance Single submitter
- B4GALT2 p.Val34Ile Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- B4GALT2 p.Arg175Cys Uncertain significance Single submitter
- B4GALT2 p.Arg305His Uncertain significance Single submitter
- B4GALT2 p.His163Arg Uncertain significance Single submitter
- B4GALT2 p.Phe286Ile Uncertain significance Single submitter
- B4GALT2 p.Pro102Leu Uncertain significance Single submitter
- B4GALT2 p.Pro272Ser Uncertain significance Single submitter
- B4GALT2 p.Pro96Ser Uncertain significance Single submitter
- B4GALT2 p.Ser62Cys Uncertain significance Single submitter
- B4GALT2 p.Ser64Asn Uncertain significance Single submitter
- B4GALT2 p.Ser75Phe Uncertain significance Single submitter
All B4GALT2 variants
Likely benign 2
- c.-53+529C>T Single submitter
- p.Thr93Met Single submitter
Uncertain significance 51
- c.-20G>T Single submitter
- c.-36C>T Single submitter
- c.-50C>G Single submitter
- p.Ala15Val Single submitter ⚠
- p.Ala74Thr Single submitter ⚠
- p.Ala91Gly Single submitter ⚠
- p.Arg120Trp Single submitter ⚠
- p.Arg171Trp Single submitter ⚠
- p.Arg175Cys Single submitter ⚠
- p.Arg229Cys Single submitter ⚠
- p.Arg229His Single submitter ⚠
- p.Arg302Gln Single submitter ⚠
- p.Arg305His Single submitter ⚠
- p.Arg307Cys Single submitter ⚠
- p.Arg343Gln Single submitter ⚠
- p.Arg44Cys Single submitter
- p.Arg44His Single submitter ⚠
- p.Arg48Gln Single submitter ⚠
- p.Arg69Gln Single submitter ⚠
- p.Arg69Trp Single submitter ⚠
- p.Asn273Ser Single submitter ⚠
- p.Asn71Asp Single submitter ⚠
- p.Asp187Glu Single submitter ⚠
- p.Asp232Asn Single submitter ⚠
- p.Gly231Ser Single submitter ⚠
- p.Gly78Arg Single submitter ⚠
- p.Gly88Cys Single submitter ⚠
- p.Gly88Ser Single submitter ⚠
- p.His163Arg Single submitter ⚠
- p.His55Arg Single submitter ⚠
- p.Ile168Val Single submitter ⚠
- p.Ile358Thr Single submitter ⚠
- p.Leu17Ile Single submitter ⚠
- p.Phe286Ile Single submitter ⚠
- p.Pro102Leu Single submitter ⚠
- p.Pro167Thr Single submitter ⚠
- p.Pro272Ser Single submitter ⚠
- p.Pro353Ala Single submitter ⚠
- p.Pro96Ser Single submitter ⚠
- p.Ser367Leu Single submitter ⚠
- p.Ser62Cys Single submitter ⚠
- p.Ser64Asn Single submitter ⚠
- p.Ser75Phe Single submitter ⚠
- p.Thr140Ile Single submitter ⚠
- p.Thr330Met Single submitter ⚠
- p.Val105Ala Single submitter ⚠
- p.Val128Met Single submitter ⚠
- p.Val28Ile Single submitter ⚠
- p.Val346Ile Single submitter ⚠
- p.Val349Met Single submitter ⚠
- p.Val34Ile Single submitter ⚠