APBB3 — 67 ClinVar variants
All ClinVar germline APBB3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →
4 Likely benign · 63 Uncertain significance
Full APBB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 63
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- APBB3 p.Ala163Thr Uncertain significance Single submitter
- APBB3 p.Ala288Thr Uncertain significance Single submitter
- APBB3 p.Arg156Gln Uncertain significance Single submitter
- APBB3 p.Arg323Trp Uncertain significance Single submitter
- APBB3 p.Arg382His Uncertain significance Single submitter
- APBB3 p.Arg465Gly Uncertain significance Single submitter
- APBB3 p.Arg467Gln Uncertain significance Single submitter
- APBB3 p.Arg467Pro Uncertain significance Single submitter
- APBB3 p.Asn169Ser Uncertain significance Single submitter
- APBB3 p.Asp161Val Uncertain significance Single submitter
- APBB3 p.Asp273Glu Uncertain significance Single submitter
- APBB3 p.Asp370Asn Uncertain significance Single submitter
- APBB3 p.Asp474Glu Uncertain significance Single submitter
- APBB3 p.Cys357Tyr Uncertain significance Single submitter
- APBB3 p.Gln289Glu Uncertain significance Single submitter
- APBB3 p.Glu28Asp Uncertain significance Single submitter
- APBB3 p.Glu292Lys Uncertain significance Single submitter
- APBB3 p.Gly259Asp Uncertain significance Single submitter
- APBB3 p.Gly422Ser Uncertain significance Single submitter
- APBB3 p.Gly459Ser Uncertain significance Single submitter
- APBB3 p.Gly461Glu Uncertain significance Single submitter
- APBB3 p.Ile109Met Uncertain significance Single submitter
- APBB3 p.Pro268Ser Uncertain significance Single submitter
- APBB3 p.Pro447Ser Uncertain significance Single submitter
- APBB3 p.Pro486Leu Uncertain significance Single submitter
- APBB3 p.Ser157Arg Uncertain significance Single submitter
- APBB3 p.Ser258Gly Uncertain significance Single submitter
- APBB3 p.Trp102Cys Uncertain significance Single submitter
- APBB3 p.Trp201Gly Uncertain significance Single submitter
- APBB3 p.Tyr291His Uncertain significance Single submitter
- APBB3 p.Tyr295His Uncertain significance Single submitter
- APBB3 p.Val278Ala Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- APBB3 p.Ala135Gly Uncertain significance Single submitter
- APBB3 p.Ala151Val Uncertain significance Single submitter
- APBB3 p.Ala313Val Uncertain significance Single submitter
- APBB3 p.Arg122Cys Uncertain significance Single submitter
- APBB3 p.Arg154Cys Uncertain significance Single submitter
- APBB3 p.Arg156Trp Uncertain significance Single submitter
- APBB3 p.Arg199Cys Uncertain significance Single submitter
- APBB3 p.Arg199His Uncertain significance Single submitter
- APBB3 p.Arg320Trp Uncertain significance Single submitter
- APBB3 p.Arg369Cys Uncertain significance Single submitter
- APBB3 p.Arg369His Uncertain significance Single submitter
- APBB3 p.Arg382Leu Uncertain significance Single submitter
- APBB3 p.Arg430His Uncertain significance Single submitter
- APBB3 p.Arg467Trp Uncertain significance Single submitter
- APBB3 p.Arg477Trp Uncertain significance Single submitter
- APBB3 p.Arg80Trp Uncertain significance Single submitter
- APBB3 p.Asp273Tyr Uncertain significance Single submitter
- APBB3 p.Asp379Asn Uncertain significance Single submitter
- APBB3 p.Cys357Ser Uncertain significance Single submitter
- APBB3 p.Gln249Pro Uncertain significance Single submitter
- APBB3 p.Gly115Glu Uncertain significance Single submitter
- APBB3 p.Gly398Glu Uncertain significance Single submitter
- APBB3 p.His244Asn Uncertain significance Single submitter
- APBB3 p.Lys303Glu Uncertain significance Single submitter
- APBB3 p.Met307Val Uncertain significance Single submitter
- APBB3 p.Pro130Arg Uncertain significance Single submitter
- APBB3 p.Pro136Arg Uncertain significance Single submitter
- APBB3 p.Pro136Leu Uncertain significance Single submitter
- APBB3 p.Ser384Asn Uncertain significance Single submitter
- APBB3 p.Ser471Phe Uncertain significance Single submitter
- APBB3 p.Thr373Ala Uncertain significance Single submitter
All APBB3 variants
Likely benign 4
- p.Ala319Thr Single submitter
- p.Arg323Gln Single submitter
- p.Pro266Leu Single submitter
- p.Pro342= Single submitter
Uncertain significance 63
- p.Ala135Gly Single submitter ⚠
- p.Ala151Val Single submitter ⚠
- p.Ala163Thr Single submitter ⚠
- p.Ala288Thr Single submitter ⚠
- p.Ala313Val Single submitter ⚠
- p.Arg122Cys Single submitter ⚠
- p.Arg154Cys Single submitter ⚠
- p.Arg156Gln Single submitter ⚠
- p.Arg156Trp Single submitter ⚠
- p.Arg199Cys Single submitter ⚠
- p.Arg199His Single submitter ⚠
- p.Arg320Trp Single submitter ⚠
- p.Arg323Trp Single submitter ⚠
- p.Arg369Cys Single submitter ⚠
- p.Arg369His Single submitter ⚠
- p.Arg382His Single submitter ⚠
- p.Arg382Leu Single submitter ⚠
- p.Arg430His Single submitter ⚠
- p.Arg465Gly Single submitter ⚠
- p.Arg467Gln Single submitter ⚠
- p.Arg467Pro Single submitter ⚠
- p.Arg467Trp Single submitter ⚠
- p.Arg477Trp Single submitter ⚠
- p.Arg80Trp Single submitter ⚠
- p.Asn169Ser Single submitter ⚠
- p.Asp161Val Single submitter ⚠
- p.Asp273Glu Single submitter ⚠
- p.Asp273Tyr Single submitter ⚠
- p.Asp370Asn Single submitter ⚠
- p.Asp379Asn Single submitter ⚠
- p.Asp474Glu Single submitter ⚠
- p.Cys357Ser Single submitter ⚠
- p.Cys357Tyr Single submitter ⚠
- p.Gln249Pro Single submitter ⚠
- p.Gln289Glu Single submitter ⚠
- p.Glu28Asp Single submitter ⚠
- p.Glu292Lys Single submitter ⚠
- p.Gly115Glu Single submitter ⚠
- p.Gly259Asp Single submitter ⚠
- p.Gly398Glu Single submitter ⚠
- p.Gly422Ser Single submitter ⚠
- p.Gly459Ser Single submitter ⚠
- p.Gly461Glu Single submitter ⚠
- p.His244Asn Single submitter ⚠
- p.Ile109Met Single submitter ⚠
- p.Lys303Glu Single submitter ⚠
- p.Met307Val Single submitter ⚠
- p.Pro130Arg Single submitter ⚠
- p.Pro136Arg Single submitter ⚠
- p.Pro136Leu Single submitter ⚠
- p.Pro268Ser Single submitter ⚠
- p.Pro447Ser Single submitter ⚠
- p.Pro486Leu Single submitter ⚠
- p.Ser157Arg Single submitter ⚠
- p.Ser258Gly Single submitter ⚠
- p.Ser384Asn Single submitter ⚠
- p.Ser471Phe Single submitter ⚠
- p.Thr373Ala Single submitter ⚠
- p.Trp102Cys Single submitter ⚠
- p.Trp201Gly Single submitter ⚠
- p.Tyr291His Single submitter ⚠
- p.Tyr295His Single submitter ⚠
- p.Val278Ala Single submitter ⚠