AP2B1 — 45 ClinVar variants
All ClinVar germline AP2B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
1 Benign · 44 Uncertain significance
Full AP2B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AP2B1 p.Ala612Thr Uncertain significance Single submitter
- AP2B1 p.Ala77Gly Uncertain significance Single submitter
- AP2B1 p.Asn179Asp Uncertain significance Single submitter
- AP2B1 p.Asn579Ser Uncertain significance Single submitter
- AP2B1 p.Asn641Ser Uncertain significance Single submitter
- AP2B1 p.Asp604Gly Uncertain significance Single submitter
- AP2B1 p.Asp654His Uncertain significance Single submitter
- AP2B1 p.Asp946His Uncertain significance Single submitter
- AP2B1 p.Gly715Ser Uncertain significance Single submitter
- AP2B1 p.Ile567Val Uncertain significance Single submitter
- AP2B1 p.Ile595Val Uncertain significance Single submitter
- AP2B1 p.Leu207Val Uncertain significance Single submitter
- AP2B1 p.Leu284Ser Uncertain significance Single submitter
- AP2B1 p.Leu615Val Uncertain significance Single submitter
- AP2B1 p.Met648Thr Uncertain significance Single submitter
- AP2B1 p.Met791Leu Uncertain significance Single submitter
- AP2B1 p.Phe369Cys Uncertain significance Single submitter
- AP2B1 p.Pro286Leu Uncertain significance Single submitter
- AP2B1 p.Thr611Ala Uncertain significance Single submitter
- AP2B1 p.Thr611Pro Uncertain significance Single submitter
- AP2B1 p.Thr744Ala Uncertain significance Single submitter
- AP2B1 p.Val145Met Uncertain significance Single submitter
- AP2B1 p.Val176Met Uncertain significance Single submitter
- AP2B1 p.Val43Met Uncertain significance Single submitter
- AP2B1 p.Val699Ala Uncertain significance Single submitter
- AP2B1 p.Val732Ile Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- AP2B1 p.Ala723Val Uncertain significance Single submitter
- AP2B1 p.Arg746His Uncertain significance Single submitter
- AP2B1 p.Asn152Ser Uncertain significance Single submitter
- AP2B1 p.Asn195Ser Uncertain significance Single submitter
- AP2B1 p.Gln319Arg Uncertain significance Single submitter
- AP2B1 p.Gln348His Uncertain significance Single submitter
- AP2B1 p.Ile595Phe Uncertain significance Single submitter
- AP2B1 p.Leu628Ile Uncertain significance Single submitter
- AP2B1 p.Leu882Met Uncertain significance Single submitter
- AP2B1 p.Lys733Asn Uncertain significance Single submitter
- AP2B1 p.Lys856Arg Uncertain significance Single submitter
- AP2B1 p.Pro52Ala Uncertain significance Single submitter
- AP2B1 p.Pro697Ala Uncertain significance Single submitter
- AP2B1 p.Pro697Ser Uncertain significance Single submitter
- AP2B1 p.Ser194Gly Uncertain significance Single submitter
- AP2B1 p.Thr804Ile Uncertain significance Single submitter
- AP2B1 p.Val107Ile Uncertain significance Single submitter
- AP2B1 p.Val88Ile Uncertain significance Single submitter
All AP2B1 variants
Benign 1
- p.Leu199= Multiple submitters
Uncertain significance 44
- p.Ala612Thr Single submitter ⚠
- p.Ala723Val Single submitter ⚠
- p.Ala77Gly Single submitter ⚠
- p.Arg746His Single submitter ⚠
- p.Asn152Ser Single submitter ⚠
- p.Asn179Asp Single submitter ⚠
- p.Asn195Ser Single submitter ⚠
- p.Asn579Ser Single submitter ⚠
- p.Asn641Ser Single submitter ⚠
- p.Asp604Gly Single submitter ⚠
- p.Asp654His Single submitter ⚠
- p.Asp946His Single submitter ⚠
- p.Gln319Arg Single submitter ⚠
- p.Gln348His Single submitter ⚠
- p.Gly715Ser Single submitter ⚠
- p.Ile567Val Single submitter ⚠
- p.Ile595Phe Single submitter ⚠
- p.Ile595Val Single submitter ⚠
- p.Leu207Val Single submitter ⚠
- p.Leu284Ser Single submitter ⚠
- p.Leu615Val Single submitter ⚠
- p.Leu628Ile Single submitter ⚠
- p.Leu882Met Single submitter ⚠
- p.Lys733Asn Single submitter ⚠
- p.Lys856Arg Single submitter ⚠
- p.Met648Thr Single submitter ⚠
- p.Met791Leu Single submitter ⚠
- p.Phe369Cys Single submitter ⚠
- p.Pro286Leu Single submitter ⚠
- p.Pro52Ala Single submitter ⚠
- p.Pro697Ala Single submitter ⚠
- p.Pro697Ser Single submitter ⚠
- p.Ser194Gly Single submitter ⚠
- p.Thr611Ala Single submitter ⚠
- p.Thr611Pro Single submitter ⚠
- p.Thr744Ala Single submitter ⚠
- p.Thr804Ile Single submitter ⚠
- p.Val107Ile Single submitter ⚠
- p.Val145Met Single submitter ⚠
- p.Val176Met Single submitter ⚠
- p.Val43Met Single submitter ⚠
- p.Val699Ala Single submitter ⚠
- p.Val732Ile Single submitter ⚠
- p.Val88Ile Single submitter ⚠