B3GNT6 — 61 ClinVar variants
All ClinVar germline B3GNT6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
1 Likely pathogenic · 60 Uncertain significance
Full B3GNT6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- B3GNT6 p.Arg137Pro Uncertain significance Single submitter
- B3GNT6 p.Arg153Pro Uncertain significance Single submitter
- B3GNT6 p.Arg35Ser Uncertain significance Single submitter
- B3GNT6 p.Asp224Asn Uncertain significance Single submitter
- B3GNT6 p.Asp224Glu Uncertain significance Single submitter
- B3GNT6 p.Gln44Pro Uncertain significance Single submitter
- B3GNT6 p.Gly114Ser Uncertain significance Single submitter
- B3GNT6 p.Gly158Asp Uncertain significance Single submitter
- B3GNT6 p.Gly158Cys Uncertain significance Single submitter
- B3GNT6 p.Gly20Cys Uncertain significance Single submitter
- B3GNT6 p.Gly248Arg Uncertain significance Single submitter
- B3GNT6 p.His100Tyr Uncertain significance Single submitter
- B3GNT6 p.His203Leu Uncertain significance Single submitter
- B3GNT6 p.Leu119Gln Uncertain significance Single submitter
- B3GNT6 p.Leu154Pro Uncertain significance Single submitter
- B3GNT6 p.Leu236Arg Uncertain significance Single submitter
- B3GNT6 p.Leu64Val Uncertain significance Single submitter
- B3GNT6 p.Pro241Ser Uncertain significance Single submitter
- B3GNT6 p.Pro267Gln Uncertain significance Single submitter
- B3GNT6 p.Pro267Leu Uncertain significance Single submitter
- B3GNT6 p.Ser274Ala Uncertain significance Single submitter
- B3GNT6 p.Thr13Ile Uncertain significance Single submitter
- B3GNT6 p.Trp207Cys Uncertain significance Single submitter
- B3GNT6 p.Tyr264Cys Uncertain significance Single submitter
Predictors split 36
The independent predictors disagree with each other — read with care.
- B3GNT6 p.Ala112Val Uncertain significance Single submitter
- B3GNT6 p.Ala215Pro Uncertain significance Single submitter
- B3GNT6 p.Ala57Val Uncertain significance Single submitter
- B3GNT6 p.Ala72Thr Uncertain significance Single submitter
- B3GNT6 p.Arg138Cys Uncertain significance Single submitter
- B3GNT6 p.Arg152Cys Uncertain significance Single submitter
- B3GNT6 p.Arg152His Uncertain significance Single submitter
- B3GNT6 p.Arg153Cys Uncertain significance Single submitter
- B3GNT6 p.Arg6Cys Uncertain significance Single submitter
- B3GNT6 p.Arg6His Uncertain significance Single submitter
- B3GNT6 p.Arg88Leu Uncertain significance Single submitter
- B3GNT6 p.Arg96Leu Uncertain significance Single submitter
- B3GNT6 p.Asp106Val Uncertain significance Single submitter
- B3GNT6 p.Asp164Asn Uncertain significance Single submitter
- B3GNT6 p.Asp53Asn Uncertain significance Single submitter
- B3GNT6 p.Gln90Lys Uncertain significance Single submitter
- B3GNT6 p.Glu131Gln Uncertain significance Single submitter
- B3GNT6 p.Glu163Val Uncertain significance Single submitter
- B3GNT6 p.Glu45Asp Uncertain significance Single submitter
- B3GNT6 p.Glu45Gly Uncertain significance Single submitter
- B3GNT6 p.Glu45Lys Uncertain significance Single submitter
- B3GNT6 p.Glu59Lys Uncertain significance Single submitter
- B3GNT6 p.Gly320Asp Uncertain significance Single submitter
- B3GNT6 p.His182Leu Uncertain significance Single submitter
- B3GNT6 p.Met251Arg Uncertain significance Single submitter
- B3GNT6 p.Pro160Arg Uncertain significance Single submitter
- B3GNT6 p.Pro162Leu Uncertain significance Single submitter
- B3GNT6 p.Pro268Leu Uncertain significance Single submitter
- B3GNT6 p.Pro43Ala Uncertain significance Single submitter
- B3GNT6 p.Pro55Leu Uncertain significance Single submitter
- B3GNT6 p.Pro69Ser Uncertain significance Single submitter
- B3GNT6 p.Ser145Thr Uncertain significance Single submitter
- B3GNT6 p.Ser247Cys Uncertain significance Single submitter
- B3GNT6 p.Ser247Pro Uncertain significance Single submitter
- B3GNT6 p.Val117Leu Uncertain significance Single submitter
- B3GNT6 p.Val151Met Uncertain significance Single submitter
All B3GNT6 variants
Likely pathogenic 1
- p.Asp184Glu Single submitter childhood-onset schizophrenia
Uncertain significance 60
- p.Ala112Val Single submitter ⚠
- p.Ala215Pro Single submitter ⚠
- p.Ala57Val Single submitter ⚠
- p.Ala72Thr Single submitter ⚠
- p.Arg137Pro Single submitter ⚠
- p.Arg138Cys Single submitter ⚠
- p.Arg152Cys Single submitter ⚠
- p.Arg152His Single submitter ⚠
- p.Arg153Cys Single submitter ⚠
- p.Arg153Pro Single submitter ⚠
- p.Arg35Ser Single submitter ⚠
- p.Arg6Cys Single submitter ⚠
- p.Arg6His Single submitter ⚠
- p.Arg88Leu Single submitter ⚠
- p.Arg96Leu Single submitter ⚠
- p.Asp106Val Single submitter ⚠
- p.Asp164Asn Single submitter ⚠
- p.Asp224Asn Single submitter ⚠
- p.Asp224Glu Single submitter ⚠
- p.Asp53Asn Single submitter ⚠
- p.Gln44Pro Single submitter ⚠
- p.Gln90Lys Single submitter ⚠
- p.Glu131Gln Single submitter ⚠
- p.Glu163Val Single submitter ⚠
- p.Glu45Asp Single submitter ⚠
- p.Glu45Gly Single submitter ⚠
- p.Glu45Lys Single submitter ⚠
- p.Glu59Lys Single submitter ⚠
- p.Gly114Ser Single submitter ⚠
- p.Gly158Asp Single submitter ⚠
- p.Gly158Cys Single submitter ⚠
- p.Gly20Cys Single submitter ⚠
- p.Gly248Arg Single submitter ⚠
- p.Gly320Asp Single submitter ⚠
- p.His100Tyr Single submitter ⚠
- p.His182Leu Single submitter ⚠
- p.His203Leu Single submitter ⚠
- p.Leu119Gln Single submitter ⚠
- p.Leu154Pro Single submitter ⚠
- p.Leu236Arg Single submitter ⚠
- p.Leu64Val Single submitter ⚠
- p.Met251Arg Single submitter ⚠
- p.Pro160Arg Single submitter ⚠
- p.Pro162Leu Single submitter ⚠
- p.Pro241Ser Single submitter ⚠
- p.Pro267Gln Single submitter ⚠
- p.Pro267Leu Single submitter ⚠
- p.Pro268Leu Single submitter ⚠
- p.Pro43Ala Single submitter ⚠
- p.Pro55Leu Single submitter ⚠
- p.Pro69Ser Single submitter ⚠
- p.Ser145Thr Single submitter ⚠
- p.Ser247Cys Single submitter ⚠
- p.Ser247Pro Single submitter ⚠
- p.Ser274Ala Single submitter ⚠
- p.Thr13Ile Single submitter ⚠
- p.Trp207Cys Single submitter ⚠
- p.Tyr264Cys Single submitter ⚠
- p.Val117Leu Single submitter ⚠
- p.Val151Met Single submitter ⚠