B3GALT4 — 43 ClinVar variants
All ClinVar germline B3GALT4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
14 Likely benign · 29 Uncertain significance
Full B3GALT4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- B3GALT4 p.Ala43Thr Uncertain significance Single submitter
- B3GALT4 p.Ala43Val Uncertain significance Single submitter
- B3GALT4 p.Arg283Trp Uncertain significance Single submitter
- B3GALT4 p.Gln206Lys Uncertain significance Single submitter
- B3GALT4 p.Gln211Glu Uncertain significance Single submitter
- B3GALT4 p.Glu162Lys Uncertain significance Single submitter
- B3GALT4 p.Gly29Arg Uncertain significance Single submitter
- B3GALT4 p.Gly348Ala Uncertain significance Single submitter
- B3GALT4 p.Gly351Arg Uncertain significance Single submitter
- B3GALT4 p.Pro205Leu Uncertain significance Single submitter
- B3GALT4 p.Ser65Asn Uncertain significance Single submitter
- B3GALT4 p.Trp121Ser Uncertain significance Single submitter
- B3GALT4 p.Trp199Ser Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- B3GALT4 p.Ala161Ser Uncertain significance Single submitter
- B3GALT4 p.Arg300Gly Uncertain significance Single submitter
- B3GALT4 p.Arg369Leu Uncertain significance Single submitter
- B3GALT4 p.Arg369Trp Uncertain significance Single submitter
- B3GALT4 p.Glu221Lys Uncertain significance Single submitter
- B3GALT4 p.Glu249Gly Uncertain significance Single submitter
- B3GALT4 p.Gly136Val Uncertain significance Single submitter
- B3GALT4 p.Gly96Arg Likely benign Single submitter
- B3GALT4 p.Leu158Val Uncertain significance Single submitter
- B3GALT4 p.Leu28Phe Likely benign Single submitter
- B3GALT4 p.Leu303Phe Uncertain significance Single submitter
- B3GALT4 p.Leu9Arg Uncertain significance Single submitter
- B3GALT4 p.Pro240Leu Uncertain significance Single submitter
- B3GALT4 p.Pro285Ser Uncertain significance Single submitter
- B3GALT4 p.Pro318Leu Uncertain significance Single submitter
- B3GALT4 p.Pro49Gln Uncertain significance Single submitter
- B3GALT4 p.Pro54Arg Uncertain significance Single submitter
- B3GALT4 p.Pro67Ser Likely benign Single submitter
- B3GALT4 p.Tyr317Asp Uncertain significance Single submitter
All B3GALT4 variants
Likely benign 14
- p.Ala69Pro Single submitter
- p.Arg207Lys Single submitter
- p.Arg245His Single submitter
- p.Asp350Glu Single submitter
- p.Gln144Arg Single submitter
- p.Gln206His Single submitter
- p.Glu208Lys Single submitter
- p.Gly125Arg Single submitter
- p.Gly96Arg Single submitter ⚠
- p.Leu28Phe Single submitter ⚠
- p.Pro67Ser Single submitter ⚠
- p.Ser65Gly Single submitter
- p.Val19Leu Single submitter
- p.Val222Met Single submitter
Uncertain significance 29
- p.Ala161Ser Single submitter ⚠
- p.Ala43Thr Single submitter ⚠
- p.Ala43Val Single submitter ⚠
- p.Arg283Trp Single submitter ⚠
- p.Arg300Gly Single submitter ⚠
- p.Arg369Leu Single submitter ⚠
- p.Arg369Trp Single submitter ⚠
- p.Gln206Lys Single submitter ⚠
- p.Gln211Glu Single submitter ⚠
- p.Glu162Lys Single submitter ⚠
- p.Glu221Lys Single submitter ⚠
- p.Glu249Gly Single submitter ⚠
- p.Gly136Val Single submitter ⚠
- p.Gly29Arg Single submitter ⚠
- p.Gly348Ala Single submitter ⚠
- p.Gly351Arg Single submitter ⚠
- p.Leu158Val Single submitter ⚠
- p.Leu303Phe Single submitter ⚠
- p.Leu9Arg Single submitter ⚠
- p.Pro205Leu Single submitter ⚠
- p.Pro240Leu Single submitter ⚠
- p.Pro285Ser Single submitter ⚠
- p.Pro318Leu Single submitter ⚠
- p.Pro49Gln Single submitter ⚠
- p.Pro54Arg Single submitter ⚠
- p.Ser65Asn Single submitter ⚠
- p.Trp121Ser Single submitter ⚠
- p.Trp199Ser Single submitter ⚠
- p.Tyr317Asp Single submitter ⚠