B3GNT8 — 97 ClinVar variants
All ClinVar germline B3GNT8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
12 Benign · 7 Likely benign · 78 Uncertain significance
Full B3GNT8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 81
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- B3GNT8 p.Ala101Thr Uncertain significance Single submitter
- B3GNT8 p.Ala360Glu Uncertain significance Single submitter
- B3GNT8 p.Arg117Gly Uncertain significance Single submitter
- B3GNT8 p.Arg117His Uncertain significance Single submitter
- B3GNT8 p.Arg117Ser Uncertain significance Single submitter
- B3GNT8 p.Arg125Trp Uncertain significance Single submitter
- B3GNT8 p.Arg164Gln Uncertain significance Single submitter
- B3GNT8 p.Arg30Leu Uncertain significance Single submitter
- B3GNT8 p.Arg326His Uncertain significance Single submitter
- B3GNT8 p.Arg376Gln Uncertain significance Single submitter
- B3GNT8 p.Arg385Gln Uncertain significance Single submitter
- B3GNT8 p.Arg394Lys Uncertain significance Single submitter
- B3GNT8 p.Arg61Cys Uncertain significance Single submitter
- B3GNT8 p.Arg61His Uncertain significance Single submitter
- B3GNT8 p.Arg79Gln Uncertain significance Single submitter
- B3GNT8 p.Asp216Glu Uncertain significance Single submitter
- B3GNT8 p.Asp87Glu Uncertain significance Single submitter
- B3GNT8 p.Cys124Phe Uncertain significance Single submitter
- B3GNT8 p.Cys9Ser Uncertain significance Single submitter
- B3GNT8 p.Gln389Arg Uncertain significance Single submitter
- B3GNT8 p.Gln64Pro Uncertain significance Single submitter
- B3GNT8 p.Glu104Asp Uncertain significance Single submitter
- B3GNT8 p.Glu24Lys Uncertain significance Single submitter
- B3GNT8 p.Glu28Lys Uncertain significance Single submitter
- B3GNT8 p.Glu294Lys Uncertain significance Single submitter
- B3GNT8 p.Gly177Glu Uncertain significance Single submitter
- B3GNT8 p.Gly314Arg Uncertain significance Single submitter
- B3GNT8 p.Leu215Arg Uncertain significance Single submitter
- B3GNT8 p.Leu243Ser Uncertain significance Single submitter
- B3GNT8 p.Phe70Cys Uncertain significance Single submitter
- B3GNT8 p.Phe70Leu Uncertain significance Single submitter
- B3GNT8 p.Pro348Ser Uncertain significance Single submitter
- B3GNT8 p.Pro36Leu Uncertain significance Single submitter
- B3GNT8 p.Ser267Leu Uncertain significance Single submitter
- B3GNT8 p.Ser32Arg Uncertain significance Single submitter
- B3GNT8 p.Ser44Arg Uncertain significance Single submitter
- B3GNT8 p.Ser85Arg Uncertain significance Single submitter
- B3GNT8 p.Ser85Asn Uncertain significance Single submitter
- B3GNT8 p.Trp231Arg Uncertain significance Single submitter
- B3GNT8 p.Val242Leu Uncertain significance Single submitter
Predictors split 41
The independent predictors disagree with each other — read with care.
- B3GNT8 p.Ser137Gly Benign Multiple submitters
- B3GNT8 p.Ala100Thr Uncertain significance Single submitter
- B3GNT8 p.Ala280Val Uncertain significance Single submitter
- B3GNT8 p.Arg179Trp Uncertain significance Single submitter
- B3GNT8 p.Arg204Cys Uncertain significance Single submitter
- B3GNT8 p.Arg244Gln Likely benign Single submitter
- B3GNT8 p.Arg261Gln Likely benign Single submitter
- B3GNT8 p.Arg261Trp Uncertain significance Single submitter
- B3GNT8 p.Arg315Cys Uncertain significance Single submitter
- B3GNT8 p.Arg322Trp Uncertain significance Single submitter
- B3GNT8 p.Arg326Cys Uncertain significance Single submitter
- B3GNT8 p.Arg362Cys Uncertain significance Single submitter
- B3GNT8 p.Arg370His Uncertain significance Single submitter
- B3GNT8 p.Arg385Trp Uncertain significance Single submitter
- B3GNT8 p.Asp144Val Uncertain significance Single submitter
- B3GNT8 p.Gln129Arg Uncertain significance Single submitter
- B3GNT8 p.Gln389Pro Uncertain significance Single submitter
- B3GNT8 p.Gly159Glu Uncertain significance Single submitter
- B3GNT8 p.Gly92Arg Uncertain significance Single submitter
- B3GNT8 p.Leu10Pro Uncertain significance Single submitter
- B3GNT8 p.Leu355Phe Uncertain significance Single submitter
- B3GNT8 p.Leu373Met Uncertain significance Single submitter
- B3GNT8 p.Lys285Asn Uncertain significance Single submitter
- B3GNT8 p.Phe127Leu Uncertain significance Single submitter
- B3GNT8 p.Phe161Tyr Uncertain significance Single submitter
- B3GNT8 p.Phe219Leu Uncertain significance Single submitter
- B3GNT8 p.Phe330Leu Uncertain significance Single submitter
- B3GNT8 p.Pro112Ser Uncertain significance Single submitter
- B3GNT8 p.Pro237Leu Uncertain significance Single submitter
- B3GNT8 p.Pro282Ala Uncertain significance Single submitter
- B3GNT8 p.Pro302Ser Uncertain significance Single submitter
- B3GNT8 p.Pro348Leu Uncertain significance Single submitter
- B3GNT8 p.Pro377Ser Uncertain significance Single submitter
- B3GNT8 p.Pro55Ser Uncertain significance Single submitter
- B3GNT8 p.Thr222Met Uncertain significance Single submitter
- B3GNT8 p.Thr278Ile Uncertain significance Single submitter
- B3GNT8 p.Thr363Asn Uncertain significance Single submitter
- B3GNT8 p.Thr91Met Uncertain significance Single submitter
- B3GNT8 p.Tyr291Cys Uncertain significance Single submitter
- B3GNT8 p.Val154Ile Uncertain significance Single submitter
- B3GNT8 p.Val239Met Uncertain significance Single submitter
All B3GNT8 variants
Benign 12
- c.-32-113C>T Multiple submitters
- c.-32-43A>G Multiple submitters
- c.*7T>C Multiple submitters
- p.Ala200= Multiple submitters
- p.Glu24= Multiple submitters
- p.Leu131= Multiple submitters
- p.Ser137Gly Multiple submitters ⚠
- p.Ser207= Multiple submitters
- p.Val188= Multiple submitters
- c.-33+226G>A Single submitter
- c.*35_*36insCCGGCCCTGGCC Single submitter
- p.Tyr310= Single submitter
Likely benign 7
- p.Ala266Ser Single submitter
- p.Arg160His Single submitter
- p.Arg244Gln Single submitter ⚠
- p.Arg261Gln Single submitter ⚠
- p.Arg269Gln Single submitter
- p.Gly300Asp Single submitter
- p.Gly93Asp Single submitter
Uncertain significance 78
- p.Ala100Thr Single submitter ⚠
- p.Ala101Thr Single submitter ⚠
- p.Ala280Val Single submitter ⚠
- p.Ala360Glu Single submitter ⚠
- p.Arg117Gly Single submitter ⚠
- p.Arg117His Single submitter ⚠
- p.Arg117Ser Single submitter ⚠
- p.Arg125Trp Single submitter ⚠
- p.Arg164Gln Single submitter ⚠
- p.Arg179Trp Single submitter ⚠
- p.Arg204Cys Single submitter ⚠
- p.Arg261Trp Single submitter ⚠
- p.Arg30Leu Single submitter ⚠
- p.Arg315Cys Single submitter ⚠
- p.Arg322Trp Single submitter ⚠
- p.Arg326Cys Single submitter ⚠
- p.Arg326His Single submitter ⚠
- p.Arg362Cys Single submitter ⚠
- p.Arg370His Single submitter ⚠
- p.Arg376Gln Single submitter ⚠
- p.Arg385Gln Single submitter ⚠
- p.Arg385Trp Single submitter ⚠
- p.Arg394Lys Single submitter ⚠
- p.Arg61Cys Single submitter ⚠
- p.Arg61His Single submitter ⚠
- p.Arg79Gln Single submitter ⚠
- p.Asp144Val Single submitter ⚠
- p.Asp216Glu Single submitter ⚠
- p.Asp87Glu Single submitter ⚠
- p.Cys124Phe Single submitter ⚠
- p.Cys9Ser Single submitter ⚠
- p.Gln129Arg Single submitter ⚠
- p.Gln389Arg Single submitter ⚠
- p.Gln389Pro Single submitter ⚠
- p.Gln64Pro Single submitter ⚠
- p.Glu104Asp Single submitter ⚠
- p.Glu24Lys Single submitter ⚠
- p.Glu28Lys Single submitter ⚠
- p.Glu294Lys Single submitter ⚠
- p.Gly159Glu Single submitter ⚠
- p.Gly177Glu Single submitter ⚠
- p.Gly314Arg Single submitter ⚠
- p.Gly92Arg Single submitter ⚠
- p.Leu10Pro Single submitter ⚠
- p.Leu215Arg Single submitter ⚠
- p.Leu243Ser Single submitter ⚠
- p.Leu355Phe Single submitter ⚠
- p.Leu373Met Single submitter ⚠
- p.Lys285Asn Single submitter ⚠
- p.Phe127Leu Single submitter ⚠
- p.Phe161Tyr Single submitter ⚠
- p.Phe219Leu Single submitter ⚠
- p.Phe330Leu Single submitter ⚠
- p.Phe70Cys Single submitter ⚠
- p.Phe70Leu Single submitter ⚠
- p.Pro112Ser Single submitter ⚠
- p.Pro237Leu Single submitter ⚠
- p.Pro282Ala Single submitter ⚠
- p.Pro302Ser Single submitter ⚠
- p.Pro348Leu Single submitter ⚠
- p.Pro348Ser Single submitter ⚠
- p.Pro36Leu Single submitter ⚠
- p.Pro377Ser Single submitter ⚠
- p.Pro55Ser Single submitter ⚠
- p.Ser267Leu Single submitter ⚠
- p.Ser32Arg Single submitter ⚠
- p.Ser44Arg Single submitter ⚠
- p.Ser85Arg Single submitter ⚠
- p.Ser85Asn Single submitter ⚠
- p.Thr222Met Single submitter ⚠
- p.Thr278Ile Single submitter ⚠
- p.Thr363Asn Single submitter ⚠
- p.Thr91Met Single submitter ⚠
- p.Trp231Arg Single submitter ⚠
- p.Tyr291Cys Single submitter ⚠
- p.Val154Ile Single submitter ⚠
- p.Val239Met Single submitter ⚠
- p.Val242Leu Single submitter ⚠