AP3M2 — 48 ClinVar variants
All ClinVar germline AP3M2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
1 Likely benign · 47 Uncertain significance
Full AP3M2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AP3M2 p.Arg168Gln Uncertain significance Single submitter
- AP3M2 p.Arg246His Uncertain significance Single submitter
- AP3M2 p.Arg283Gln Uncertain significance Single submitter
- AP3M2 p.Arg290His Uncertain significance Single submitter
- AP3M2 p.Arg85Gln Uncertain significance Single submitter
- AP3M2 p.Asn224Asp Uncertain significance Single submitter
- AP3M2 p.Asp333Asn Uncertain significance Single submitter
- AP3M2 p.Gln156His Uncertain significance Single submitter
- AP3M2 p.Gln299His Uncertain significance Single submitter
- AP3M2 p.Glu99Gly Uncertain significance Single submitter
- AP3M2 p.Gly154Ser Uncertain significance Single submitter
- AP3M2 p.Gly317Val Uncertain significance Single submitter
- AP3M2 p.Ile139Val Uncertain significance Single submitter
- AP3M2 p.Ile247Met Uncertain significance Single submitter
- AP3M2 p.Ile272Val Uncertain significance Single submitter
- AP3M2 p.Ile305Thr Uncertain significance Single submitter
- AP3M2 p.Leu113Val Uncertain significance Single submitter
- AP3M2 p.Phe33Ser Uncertain significance Single submitter
- AP3M2 p.Phe78Cys Uncertain significance Single submitter
- AP3M2 p.Ser11Phe Uncertain significance Single submitter
- AP3M2 p.Thr199Ile Uncertain significance Single submitter
- AP3M2 p.Thr294Met Uncertain significance Single submitter
- AP3M2 p.Thr329Ala Uncertain significance Single submitter
- AP3M2 p.Thr329Arg Uncertain significance Single submitter
- AP3M2 p.Thr72Met Uncertain significance Single submitter
- AP3M2 p.Val48Ala Uncertain significance Single submitter
- AP3M2 p.Val48Ile Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- AP3M2 p.Ala35Val Uncertain significance Single submitter
- AP3M2 p.Arg258Cys Uncertain significance Single submitter
- AP3M2 p.Arg283Pro Uncertain significance Single submitter
- AP3M2 p.Arg283Trp Uncertain significance Single submitter
- AP3M2 p.Arg391His Uncertain significance Single submitter
- AP3M2 p.Arg61Cys Uncertain significance Single submitter
- AP3M2 p.Ile384Thr Uncertain significance Single submitter
- AP3M2 p.Ile8Met Uncertain significance Single submitter
- AP3M2 p.Leu288Pro Uncertain significance Single submitter
- AP3M2 p.Phe377Leu Uncertain significance Single submitter
- AP3M2 p.Pro352Ser Uncertain significance Single submitter
- AP3M2 p.Pro76Ala Uncertain significance Single submitter
- AP3M2 p.Ser221Cys Uncertain significance Single submitter
- AP3M2 p.Ser281Arg Uncertain significance Single submitter
- AP3M2 p.Tyr55His Uncertain significance Single submitter
- AP3M2 p.Val274Ala Uncertain significance Single submitter
- AP3M2 p.Val389Met Uncertain significance Single submitter
- AP3M2 p.Val69Leu Uncertain significance Single submitter
All AP3M2 variants
Likely benign 1
- p.Ser353Asn Single submitter
Uncertain significance 47
- p.Ala35Val Single submitter ⚠
- p.Arg168Gln Single submitter ⚠
- p.Arg246His Single submitter ⚠
- p.Arg258Cys Single submitter ⚠
- p.Arg283Gln Single submitter ⚠
- p.Arg283Pro Single submitter ⚠
- p.Arg283Trp Single submitter ⚠
- p.Arg290Cys Single submitter
- p.Arg290His Single submitter ⚠
- p.Arg391His Single submitter ⚠
- p.Arg61Cys Single submitter ⚠
- p.Arg85Gln Single submitter ⚠
- p.Asn224Asp Single submitter ⚠
- p.Asp333Asn Single submitter ⚠
- p.Gln156His Single submitter ⚠
- p.Gln299His Single submitter ⚠
- p.Glu243Gln Single submitter
- p.Glu99Gly Single submitter ⚠
- p.Gly154Ser Single submitter ⚠
- p.Gly317Val Single submitter ⚠
- p.Ile139Val Single submitter ⚠
- p.Ile247Met Single submitter ⚠
- p.Ile272Val Single submitter ⚠
- p.Ile305Thr Single submitter ⚠
- p.Ile384Thr Single submitter ⚠
- p.Ile8Met Single submitter ⚠
- p.Leu113Val Single submitter ⚠
- p.Leu288Pro Single submitter ⚠
- p.Phe33Ser Single submitter ⚠
- p.Phe377Leu Single submitter ⚠
- p.Phe78Cys Single submitter ⚠
- p.Pro352Ser Single submitter ⚠
- p.Pro76Ala Single submitter ⚠
- p.Ser11Phe Single submitter ⚠
- p.Ser221Cys Single submitter ⚠
- p.Ser281Arg Single submitter ⚠
- p.Thr199Ile Single submitter ⚠
- p.Thr294Met Single submitter ⚠
- p.Thr329Ala Single submitter ⚠
- p.Thr329Arg Single submitter ⚠
- p.Thr72Met Single submitter ⚠
- p.Tyr55His Single submitter ⚠
- p.Val274Ala Single submitter ⚠
- p.Val389Met Single submitter ⚠
- p.Val48Ala Single submitter ⚠
- p.Val48Ile Single submitter ⚠
- p.Val69Leu Single submitter ⚠