B3GNT5 — 43 ClinVar variants
All ClinVar germline B3GNT5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
2 Likely benign · 41 Uncertain significance
Full B3GNT5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- B3GNT5 p.Arg104Cys Uncertain significance Single submitter
- B3GNT5 p.Arg222His Uncertain significance Single submitter
- B3GNT5 p.Arg374Trp Uncertain significance Single submitter
- B3GNT5 p.Arg8Thr Uncertain significance Single submitter
- B3GNT5 p.Asp36Asn Uncertain significance Single submitter
- B3GNT5 p.Gln143Arg Uncertain significance Single submitter
- B3GNT5 p.Gln151Lys Uncertain significance Single submitter
- B3GNT5 p.Glu270Lys Uncertain significance Single submitter
- B3GNT5 p.Glu327Asp Uncertain significance Single submitter
- B3GNT5 p.Gly106Arg Uncertain significance Single submitter
- B3GNT5 p.His185Arg Uncertain significance Single submitter
- B3GNT5 p.His325Gln Uncertain significance Single submitter
- B3GNT5 p.Ile16Thr Uncertain significance Single submitter
- B3GNT5 p.Ile295Val Uncertain significance Single submitter
- B3GNT5 p.Ile352Met Uncertain significance Single submitter
- B3GNT5 p.Ile35Leu Uncertain significance Single submitter
- B3GNT5 p.Lys187Arg Uncertain significance Single submitter
- B3GNT5 p.Lys318Asn Uncertain significance Single submitter
- B3GNT5 p.Lys346Arg Uncertain significance Single submitter
- B3GNT5 p.Lys346Glu Uncertain significance Single submitter
- B3GNT5 p.Phe129Ile Uncertain significance Single submitter
- B3GNT5 p.Phe285Leu Uncertain significance Single submitter
- B3GNT5 p.Pro136Leu Uncertain significance Single submitter
- B3GNT5 p.Pro297Leu Uncertain significance Single submitter
- B3GNT5 p.Ser41Arg Uncertain significance Single submitter
- B3GNT5 p.Trp13Arg Uncertain significance Single submitter
- B3GNT5 p.Tyr316Cys Uncertain significance Single submitter
- B3GNT5 p.Val301Met Uncertain significance Single submitter
- B3GNT5 p.Val5Leu Uncertain significance Single submitter
- B3GNT5 p.Val88Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- B3GNT5 p.Arg103Gln Uncertain significance Single submitter
- B3GNT5 p.Arg118Trp Uncertain significance Single submitter
- B3GNT5 p.Asn167Ser Uncertain significance Single submitter
- B3GNT5 p.Asp217Ala Uncertain significance Single submitter
- B3GNT5 p.Ile156Val Likely benign Single submitter
- B3GNT5 p.Met174Thr Uncertain significance Single submitter
- B3GNT5 p.Phe93Leu Uncertain significance Single submitter
- B3GNT5 p.Pro98Leu Uncertain significance Single submitter
- B3GNT5 p.Thr274Ala Uncertain significance Single submitter
- B3GNT5 p.Tyr182Cys Uncertain significance Single submitter
- B3GNT5 p.Tyr241Cys Uncertain significance Single submitter
- B3GNT5 p.Tyr269Asp Uncertain significance Single submitter
All B3GNT5 variants
Likely benign 2
- p.Gly262Ser Single submitter
- p.Ile156Val Single submitter ⚠
Uncertain significance 41
- p.Arg103Gln Single submitter ⚠
- p.Arg104Cys Single submitter ⚠
- p.Arg118Trp Single submitter ⚠
- p.Arg222His Single submitter ⚠
- p.Arg374Trp Single submitter ⚠
- p.Arg8Thr Single submitter ⚠
- p.Asn167Ser Single submitter ⚠
- p.Asp217Ala Single submitter ⚠
- p.Asp36Asn Single submitter ⚠
- p.Gln143Arg Single submitter ⚠
- p.Gln151Lys Single submitter ⚠
- p.Glu270Lys Single submitter ⚠
- p.Glu327Asp Single submitter ⚠
- p.Gly106Arg Single submitter ⚠
- p.His185Arg Single submitter ⚠
- p.His325Gln Single submitter ⚠
- p.Ile16Thr Single submitter ⚠
- p.Ile295Val Single submitter ⚠
- p.Ile352Met Single submitter ⚠
- p.Ile35Leu Single submitter ⚠
- p.Lys187Arg Single submitter ⚠
- p.Lys318Asn Single submitter ⚠
- p.Lys346Arg Single submitter ⚠
- p.Lys346Glu Single submitter ⚠
- p.Met174Thr Single submitter ⚠
- p.Phe129Ile Single submitter ⚠
- p.Phe285Leu Single submitter ⚠
- p.Phe93Leu Single submitter ⚠
- p.Pro136Leu Single submitter ⚠
- p.Pro297Leu Single submitter ⚠
- p.Pro98Leu Single submitter ⚠
- p.Ser41Arg Single submitter ⚠
- p.Thr274Ala Single submitter ⚠
- p.Trp13Arg Single submitter ⚠
- p.Tyr182Cys Single submitter ⚠
- p.Tyr241Cys Single submitter ⚠
- p.Tyr269Asp Single submitter ⚠
- p.Tyr316Cys Single submitter ⚠
- p.Val301Met Single submitter ⚠
- p.Val5Leu Single submitter ⚠
- p.Val88Ile Single submitter ⚠