APBB1 — 93 ClinVar variants
All ClinVar germline APBB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
5 Benign · 9 Likely benign · 79 Uncertain significance
Full APBB1 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 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- APBB1 p.Ala157Val Uncertain significance Single submitter
- APBB1 p.Ala194Asp Uncertain significance Single submitter
- APBB1 p.Ala194Val Uncertain significance Single submitter
- APBB1 p.Ala216Val Uncertain significance Single submitter
- APBB1 p.Ala38Thr Uncertain significance Single submitter
- APBB1 p.Ala643Val Uncertain significance Single submitter
- APBB1 p.Ala664Thr Uncertain significance Single submitter
- APBB1 p.Arg130Gln Uncertain significance Single submitter
- APBB1 p.Arg213Gln Uncertain significance Single submitter
- APBB1 p.Arg213Trp Uncertain significance Single submitter
- APBB1 p.Arg285Gln Uncertain significance Single submitter
- APBB1 p.Arg361Gln Uncertain significance Single submitter
- APBB1 p.Arg399Cys Uncertain significance Single submitter
- APBB1 p.Arg451Cys Uncertain significance Single submitter
- APBB1 p.Arg451His Uncertain significance Single submitter
- APBB1 p.Arg483Cys Uncertain significance Single submitter
- APBB1 p.Arg483His Uncertain significance Single submitter
- APBB1 p.Arg510His Uncertain significance Single submitter
- APBB1 p.Arg51His Uncertain significance Single submitter
- APBB1 p.Arg607Cys Uncertain significance Single submitter
- APBB1 p.Arg657Cys Uncertain significance Single submitter
- APBB1 p.Arg665Cys Uncertain significance Single submitter
- APBB1 p.Arg85Cys Uncertain significance Single submitter
- APBB1 p.Asn129Thr Uncertain significance Single submitter
- APBB1 p.Asn15Asp Uncertain significance Single submitter
- APBB1 p.Asn245Ser Uncertain significance Single submitter
- APBB1 p.Asn37His Uncertain significance Single submitter
- APBB1 p.Asn407Asp Uncertain significance Single submitter
- APBB1 p.Asn66Ser Uncertain significance Single submitter
- APBB1 p.Asp319Gly Uncertain significance Single submitter
- APBB1 p.Asp421Glu Uncertain significance Single submitter
- APBB1 p.Gln144Pro Uncertain significance Single submitter
- APBB1 p.Gln694His Uncertain significance Single submitter
- APBB1 p.Glu143Asp Uncertain significance Single submitter
- APBB1 p.Glu238Asp Uncertain significance Single submitter
- APBB1 p.Glu320Val Uncertain significance Single submitter
- APBB1 p.Gly131Arg Uncertain significance Single submitter
- APBB1 p.Gly131Asp Uncertain significance Single submitter
- APBB1 p.Gly18Arg Uncertain significance Single submitter
- APBB1 p.Gly230Asp Uncertain significance Single submitter
- APBB1 p.Gly291Arg Uncertain significance Single submitter
- APBB1 p.Gly337Arg Uncertain significance Single submitter
- APBB1 p.Gly564Glu Uncertain significance Single submitter
- APBB1 p.Ile114Val Uncertain significance Single submitter
- APBB1 p.Leu116Pro Uncertain significance Single submitter
- APBB1 p.Leu173Phe Uncertain significance Single submitter
- APBB1 p.Lys111Arg Uncertain significance Single submitter
- APBB1 p.Lys204Arg Uncertain significance Single submitter
- APBB1 p.Lys489Arg Uncertain significance Single submitter
- APBB1 p.Met212Arg Uncertain significance Single submitter
- APBB1 p.Pro710Ala Uncertain significance Single submitter
- APBB1 p.Ser52Asn Uncertain significance Single submitter
- APBB1 p.Ser581Ile Uncertain significance Single submitter
- APBB1 p.Tyr117Asn Uncertain significance Single submitter
- APBB1 p.Val513Leu Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- APBB1 p.Arg51Cys Benign Multiple submitters
- APBB1 p.Ala386Thr Uncertain significance Single submitter
- APBB1 p.Ala440Gly Uncertain significance Single submitter
- APBB1 p.Arg457Gln Uncertain significance Single submitter
- APBB1 p.Arg506Gln Uncertain significance Single submitter
- APBB1 p.Arg506Trp Uncertain significance Single submitter
- APBB1 p.Arg507His Uncertain significance Single submitter
- APBB1 p.Arg510Cys Uncertain significance Single submitter
- APBB1 p.Arg575His Uncertain significance Single submitter
- APBB1 p.Arg616Gly Uncertain significance Single submitter
- APBB1 p.Glu158Lys Uncertain significance Single submitter
- APBB1 p.Glu640Lys Uncertain significance Single submitter
- APBB1 p.Gly628Ser Uncertain significance Single submitter
- APBB1 p.Gly698Val Uncertain significance Single submitter
- APBB1 p.Lys703Glu Uncertain significance Single submitter
- APBB1 p.Pro552Thr Uncertain significance Single submitter
- APBB1 p.Pro580Gln Uncertain significance Single submitter
- APBB1 p.Ser203Asn Uncertain significance Single submitter
- APBB1 p.Ser345Asn Uncertain significance Single submitter
- APBB1 p.Ser449Arg Uncertain significance Single submitter
- APBB1 p.Ser695Leu Uncertain significance Single submitter
- APBB1 p.Val392Ala Uncertain significance Single submitter
- APBB1 p.Val392Met Uncertain significance Single submitter
- APBB1 p.Val455Ile Uncertain significance Single submitter
- APBB1 p.Val685Leu Uncertain significance Single submitter
-
APBB1 p.Asn396Ser
Likely benign
No assertion criteria
APBB1-related disorder
All APBB1 variants
Benign 5
Likely benign 9
- p.Met327Val Multiple submitters
- p.Ala188Val Single submitter
- p.Gln425= Single submitter
- p.Glu328Asp Single submitter
- p.Ser222= Single submitter
- p.Asn396Ser No assertion criteria APBB1-related disorder ⚠
- p.Asp163Glu No assertion criteria APBB1-related disorder
- p.Met412Val No assertion criteria APBB1-related disorder
- p.Ser123= No assertion criteria APBB1-related disorder
Uncertain significance 79
- p.Ala157Val Single submitter ⚠
- p.Ala194Asp Single submitter ⚠
- p.Ala194Val Single submitter ⚠
- p.Ala216Val Single submitter ⚠
- p.Ala386Thr Single submitter ⚠
- p.Ala38Thr Single submitter ⚠
- p.Ala440Gly Single submitter ⚠
- p.Ala643Val Single submitter ⚠
- p.Ala664Thr Single submitter ⚠
- p.Arg130Gln Single submitter ⚠
- p.Arg213Gln Single submitter ⚠
- p.Arg213Trp Single submitter ⚠
- p.Arg285Gln Single submitter ⚠
- p.Arg361Gln Single submitter ⚠
- p.Arg399Cys Single submitter ⚠
- p.Arg451Cys Single submitter ⚠
- p.Arg451His Single submitter ⚠
- p.Arg457Gln Single submitter ⚠
- p.Arg483Cys Single submitter ⚠
- p.Arg483His Single submitter ⚠
- p.Arg506Gln Single submitter ⚠
- p.Arg506Trp Single submitter ⚠
- p.Arg507His Single submitter ⚠
- p.Arg510Cys Single submitter ⚠
- p.Arg510His Single submitter ⚠
- p.Arg51His Single submitter ⚠
- p.Arg575His Single submitter ⚠
- p.Arg607Cys Single submitter ⚠
- p.Arg616Gly Single submitter ⚠
- p.Arg657Cys Single submitter ⚠
- p.Arg665Cys Single submitter ⚠
- p.Arg85Cys Single submitter ⚠
- p.Asn129Thr Single submitter ⚠
- p.Asn15Asp Single submitter ⚠
- p.Asn245Ser Single submitter ⚠
- p.Asn37His Single submitter ⚠
- p.Asn407Asp Single submitter ⚠
- p.Asn66Ser Single submitter ⚠
- p.Asp319Gly Single submitter ⚠
- p.Asp421Glu Single submitter ⚠
- p.Gln144Pro Single submitter ⚠
- p.Gln694His Single submitter ⚠
- p.Glu143Asp Single submitter ⚠
- p.Glu158Lys Single submitter ⚠
- p.Glu238Asp Single submitter ⚠
- p.Glu320Val Single submitter ⚠
- p.Glu640Lys Single submitter ⚠
- p.Gly131Arg Single submitter ⚠
- p.Gly131Asp Single submitter ⚠
- p.Gly18Arg Single submitter ⚠
- p.Gly230Asp Single submitter ⚠
- p.Gly291Arg Single submitter ⚠
- p.Gly337Arg Single submitter ⚠
- p.Gly564Glu Single submitter ⚠
- p.Gly628Ser Single submitter ⚠
- p.Gly698Val Single submitter ⚠
- p.Ile114Val Single submitter ⚠
- p.Leu116Pro Single submitter ⚠
- p.Leu173Phe Single submitter ⚠
- p.Lys111Arg Single submitter ⚠
- p.Lys204Arg Single submitter ⚠
- p.Lys489Arg Single submitter ⚠
- p.Lys703Glu Single submitter ⚠
- p.Met212Arg Single submitter ⚠
- p.Pro552Thr Single submitter ⚠
- p.Pro580Gln Single submitter ⚠
- p.Pro710Ala Single submitter ⚠
- p.Ser203Asn Single submitter ⚠
- p.Ser345Asn Single submitter ⚠
- p.Ser449Arg Single submitter ⚠
- p.Ser52Asn Single submitter ⚠
- p.Ser581Ile Single submitter ⚠
- p.Ser695Leu Single submitter ⚠
- p.Tyr117Asn Single submitter ⚠
- p.Val392Ala Single submitter ⚠
- p.Val392Met Single submitter ⚠
- p.Val455Ile Single submitter ⚠
- p.Val513Leu Single submitter ⚠
- p.Val685Leu Single submitter ⚠