AP1M1 — 40 ClinVar variants
All ClinVar germline AP1M1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
2 Likely benign · 38 Uncertain significance
Full AP1M1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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.
- AP1M1 p.Ala75Val Uncertain significance Single submitter
- AP1M1 p.Arg104Trp Uncertain significance Single submitter
- AP1M1 p.Arg22Cys Uncertain significance Single submitter
- AP1M1 p.Arg22His Uncertain significance Single submitter
- AP1M1 p.Arg246His Uncertain significance Single submitter
- AP1M1 p.Arg410His Uncertain significance Single submitter
- AP1M1 p.Glu261Lys Uncertain significance Single submitter
- AP1M1 p.Gly13Val Uncertain significance Single submitter
- AP1M1 p.Gly187Ser Uncertain significance Single submitter
- AP1M1 p.Gly53Arg Uncertain significance Single submitter
- AP1M1 p.Gly54Arg Uncertain significance Single submitter
- AP1M1 p.Ile256Leu Uncertain significance Single submitter
- AP1M1 p.Leu37Gln Uncertain significance Single submitter
- AP1M1 p.Lys165Arg Uncertain significance Single submitter
- AP1M1 p.Lys199Arg Uncertain significance Single submitter
- AP1M1 p.Phe83Leu Uncertain significance Single submitter
- AP1M1 p.Pro123Ser Uncertain significance Single submitter
- AP1M1 p.Ser281Leu Uncertain significance Single submitter
- AP1M1 p.Ser281Pro Uncertain significance Single submitter
- AP1M1 p.Ser82Ala Uncertain significance Single submitter
- AP1M1 p.Ser92Thr Uncertain significance Single submitter
- AP1M1 p.Trp278Arg Uncertain significance Single submitter
- AP1M1 p.Tyr111Cys Uncertain significance Single submitter
- AP1M1 p.Val15Ala Uncertain significance Single submitter
- AP1M1 p.Val310Met Uncertain significance Single submitter
- AP1M1 p.Val332Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- AP1M1 p.Arg148Gln Uncertain significance Single submitter
- AP1M1 p.Arg191Cys Uncertain significance Single submitter
- AP1M1 p.Gln132Arg Uncertain significance Single submitter
- AP1M1 p.Gly361Ser Uncertain significance Single submitter
- AP1M1 p.His272Tyr Uncertain significance Single submitter
- AP1M1 p.Lys96Arg Uncertain significance Single submitter
- AP1M1 p.Met58Ile Uncertain significance Single submitter
- AP1M1 p.Ser245Thr Uncertain significance Single submitter
- AP1M1 p.Ser289Gly Uncertain significance Single submitter
- AP1M1 p.Val342Met Uncertain significance Single submitter
- AP1M1 p.Val77Met Uncertain significance Single submitter
All AP1M1 variants
Uncertain significance 38
- p.Ala75Val Single submitter ⚠
- p.Arg104Trp Single submitter ⚠
- p.Arg148Gln Single submitter ⚠
- p.Arg191Cys Single submitter ⚠
- p.Arg22Cys Single submitter ⚠
- p.Arg22His Single submitter ⚠
- p.Arg246His Single submitter ⚠
- p.Arg410His Single submitter ⚠
- p.Gln132Arg Single submitter ⚠
- p.Glu261Lys Single submitter ⚠
- p.Gly13Val Single submitter ⚠
- p.Gly187Ser Single submitter ⚠
- p.Gly361Ser Single submitter ⚠
- p.Gly53Arg Single submitter ⚠
- p.Gly54Arg Single submitter ⚠
- p.His272Tyr Single submitter ⚠
- p.Ile256Leu Single submitter ⚠
- p.Leu37Gln Single submitter ⚠
- p.Lys165Arg Single submitter ⚠
- p.Lys199Arg Single submitter ⚠
- p.Lys96Arg Single submitter ⚠
- p.Met58Ile Single submitter ⚠
- p.Phe83Leu Single submitter ⚠
- p.Pro123Ser Single submitter ⚠
- p.Ser245Thr Single submitter ⚠
- p.Ser281Leu Single submitter ⚠
- p.Ser281Pro Single submitter ⚠
- p.Ser289Gly Single submitter ⚠
- p.Ser82Ala Single submitter ⚠
- p.Ser92Thr Single submitter ⚠
- p.Thr327Met Single submitter
- p.Trp278Arg Single submitter ⚠
- p.Tyr111Cys Single submitter ⚠
- p.Val15Ala Single submitter ⚠
- p.Val310Met Single submitter ⚠
- p.Val332Ile Single submitter ⚠
- p.Val342Met Single submitter ⚠
- p.Val77Met Single submitter ⚠