B4GALT5 — 32 ClinVar variants
All ClinVar germline B4GALT5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
4 Benign · 2 Likely benign · 26 Uncertain significance
Full B4GALT5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- B4GALT5 p.Ala18Val Uncertain significance Single submitter
- B4GALT5 p.Ala369Thr Uncertain significance Single submitter
- B4GALT5 p.Ala383Pro Uncertain significance Single submitter
- B4GALT5 p.Arg12His Uncertain significance Single submitter
- B4GALT5 p.Arg192His Uncertain significance Single submitter
- B4GALT5 p.Arg284Gln Uncertain significance Single submitter
- B4GALT5 p.Asn357Ser Uncertain significance Single submitter
- B4GALT5 p.Glu381Lys Uncertain significance Single submitter
- B4GALT5 p.Glu66Lys Uncertain significance Single submitter
- B4GALT5 p.Gly151Asp Uncertain significance Single submitter
- B4GALT5 p.Gly352Arg Uncertain significance Single submitter
- B4GALT5 p.Ile125Val Uncertain significance Single submitter
- B4GALT5 p.Leu16Phe Uncertain significance Single submitter
- B4GALT5 p.Leu43Val Uncertain significance Single submitter
- B4GALT5 p.Lys143Glu Uncertain significance Single submitter
- B4GALT5 p.Lys148Arg Uncertain significance Single submitter
- B4GALT5 p.Met45Val Uncertain significance Single submitter
- B4GALT5 p.Pro115Ser Uncertain significance Single submitter
- B4GALT5 p.Thr94Ile Uncertain significance Single submitter
- B4GALT5 p.Tyr245Phe Uncertain significance Single submitter
- B4GALT5 p.Tyr341Cys Uncertain significance Single submitter
- B4GALT5 p.Val280Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All B4GALT5 variants
Benign 4
- p.Ala74= Multiple submitters
- p.Gly273= Multiple submitters
- c.490-9C>T Single submitter
- p.Phe20= Single submitter
Likely benign 2
- p.Thr146Ala Single submitter
- p.Val57Met Single submitter
Uncertain significance 26
- p.Ala18Val Single submitter ⚠
- p.Ala310Val Single submitter ⚠
- p.Ala369Thr Single submitter ⚠
- p.Ala383Pro Single submitter ⚠
- p.Arg12His Single submitter ⚠
- p.Arg192His Single submitter ⚠
- p.Arg284Gln Single submitter ⚠
- p.Asn357Ser Single submitter ⚠
- p.Glu270Lys Single submitter ⚠
- p.Glu381Lys Single submitter ⚠
- p.Glu66Lys Single submitter ⚠
- p.Gly151Asp Single submitter ⚠
- p.Gly352Arg Single submitter ⚠
- p.Ile125Val Single submitter ⚠
- p.Leu16Phe Single submitter ⚠
- p.Leu43Val Single submitter ⚠
- p.Lys143Glu Single submitter ⚠
- p.Lys148Arg Single submitter ⚠
- p.Met129Ile Single submitter ⚠
- p.Met45Ile Single submitter ⚠
- p.Met45Val Single submitter ⚠
- p.Pro115Ser Single submitter ⚠
- p.Thr94Ile Single submitter ⚠
- p.Tyr245Phe Single submitter ⚠
- p.Tyr341Cys Single submitter ⚠
- p.Val280Met Single submitter ⚠