B3GNT4 — 92 ClinVar variants

All ClinVar germline B3GNT4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 77 flagged for review →

9 Likely benign · 83 Uncertain significance

Full B3GNT4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 77

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 61

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 16

The independent predictors disagree with each other — read with care.

All B3GNT4 variants

Likely benign 9

p.Arg290His Single submitter
p.Arg314Gln Single submitter
p.Arg332Gln Single submitter
p.Asp297Glu Single submitter
p.Ile375Leu Single submitter
p.Lys116Glu Single submitter
p.Pro264Leu Single submitter
p.Ser35Leu Single submitter
p.Thr60Met Single submitter

Uncertain significance 83

p.Ala165Ser Single submitter ⚠
p.Ala168Val Single submitter ⚠
p.Ala172Thr Single submitter ⚠
p.Ala211Val Single submitter ⚠
p.Ala56Thr Single submitter ⚠
p.Ala85Pro Single submitter ⚠
p.Arg134His Single submitter ⚠
p.Arg151Gln Single submitter ⚠
p.Arg202Ser Single submitter ⚠
p.Arg268Gly Single submitter ⚠
p.Arg331Trp Single submitter ⚠
p.Arg350Cys Single submitter ⚠
p.Arg350His Single submitter ⚠
p.Arg378His Single submitter ⚠
p.Arg72His Single submitter ⚠
p.Arg92Cys Single submitter ⚠
p.Asn227Asp Single submitter ⚠
p.Asn79Lys Single submitter ⚠
p.Asn79Ser Single submitter ⚠
p.Asn79Thr Single submitter ⚠
p.Asp179Glu Single submitter ⚠
p.Asp218Gly Single submitter ⚠
p.Asp220Asn Single submitter ⚠
p.Asp304Asn Single submitter ⚠
p.Asp305His Single submitter ⚠
p.Cys370Gly Single submitter
p.Gln239His Single submitter ⚠
p.Gln63Glu Single submitter ⚠
p.Gln63His Single submitter ⚠
p.Glu296Asp Single submitter ⚠
p.Glu355Lys Single submitter ⚠
p.Gly150Asp Single submitter ⚠
p.Gly18Ser Single submitter ⚠
p.Gly280Val Single submitter ⚠
p.Gly344Arg Single submitter ⚠
p.His199Gln Single submitter ⚠
p.His271Arg Single submitter ⚠
p.His322Arg Single submitter ⚠
p.His73Tyr Single submitter ⚠
p.Leu171Pro Single submitter
p.Leu193Pro Single submitter ⚠
p.Leu317Met Single submitter ⚠
p.Leu345Val Single submitter ⚠
p.Leu354Phe Single submitter ⚠
p.Leu95Phe Single submitter ⚠
p.Lys196Glu Single submitter ⚠
p.Lys216Asn Single submitter ⚠
p.Lys22Arg Single submitter ⚠
p.Lys257Glu Single submitter ⚠
p.Met266Val Single submitter ⚠
p.Phe157Leu Single submitter ⚠
p.Phe186Leu Single submitter ⚠
p.Phe191Leu Single submitter ⚠
p.Pro111Ser Single submitter
p.Pro274Leu Single submitter ⚠
p.Pro274Ser Single submitter ⚠
p.Pro336Ala Single submitter ⚠
p.Pro353His Single submitter
p.Pro3Leu Single submitter ⚠
p.Pro4Ser Single submitter ⚠
p.Pro59Leu Single submitter ⚠
p.Pro68Leu Single submitter ⚠
p.Pro90Ser Single submitter ⚠
p.Ser106Cys Single submitter ⚠
p.Ser139Arg Single submitter ⚠
p.Ser37Gly Single submitter ⚠
p.Ser74Asn Single submitter ⚠
p.Ser84Gly Single submitter ⚠
p.Thr187Asn Single submitter ⚠
p.Thr270Ile Single submitter ⚠
p.Thr287Pro Single submitter ⚠
p.Thr70Ser Single submitter ⚠
p.Trp141Cys Single submitter ⚠
p.Trp357Gly Single submitter
p.Tyr173Cys Single submitter ⚠
p.Tyr275Asn Single submitter ⚠
p.Tyr275Cys Single submitter ⚠
p.Val156Gly Single submitter
p.Val156Leu Single submitter ⚠
p.Val225Ile Single submitter ⚠
p.Val225Leu Single submitter ⚠
p.Val228Met Single submitter ⚠
p.Val288Met Single submitter ⚠