AP3M1 — 38 ClinVar variants
All ClinVar germline AP3M1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
38 Uncertain significance
Full AP3M1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AP3M1 p.Ala40Val Uncertain significance Single submitter
- AP3M1 p.Arg168Cys Uncertain significance Single submitter
- AP3M1 p.Arg241Cys Uncertain significance Single submitter
- AP3M1 p.Arg241His Uncertain significance Single submitter
- AP3M1 p.Arg391Cys Uncertain significance Single submitter
- AP3M1 p.Asn145Ser Uncertain significance Single submitter
- AP3M1 p.Glu243Lys Uncertain significance Single submitter
- AP3M1 p.Ile187Val Uncertain significance Single submitter
- AP3M1 p.Ile210Val Uncertain significance Single submitter
- AP3M1 p.Ile272Val Uncertain significance Single submitter
- AP3M1 p.Ile375Leu Uncertain significance Single submitter
- AP3M1 p.Ile59Val Uncertain significance Single submitter
- AP3M1 p.Lys366Arg Uncertain significance Single submitter
- AP3M1 p.Val338Ile Uncertain significance Single submitter
- AP3M1 p.Val389Ala Uncertain significance Single submitter
- AP3M1 p.Val408Ile Uncertain significance Single submitter
- AP3M1 p.Val79Leu Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- AP3M1 p.Arg169Gln Uncertain significance Single submitter
- AP3M1 p.Arg61Gln Uncertain significance Single submitter
- AP3M1 p.Asp104Glu Uncertain significance Single submitter
- AP3M1 p.Cys288Trp Uncertain significance Single submitter
- AP3M1 p.Gly289Cys Uncertain significance Single submitter
- AP3M1 p.Ile260Thr Uncertain significance Single submitter
- AP3M1 p.Ile80Thr Uncertain significance Single submitter
- AP3M1 p.Leu269Arg Uncertain significance Single submitter
- AP3M1 p.Leu269Pro Uncertain significance Single submitter
- AP3M1 p.Leu351Pro Uncertain significance Single submitter
- AP3M1 p.Lys398Thr Uncertain significance Single submitter
- AP3M1 p.Ser127Ala Uncertain significance Single submitter
- AP3M1 p.Ser219Phe Uncertain significance Single submitter
- AP3M1 p.Ser286Cys Uncertain significance Single submitter
- AP3M1 p.Ser362Phe Uncertain significance Single submitter
- AP3M1 p.Thr326Ala Uncertain significance Single submitter
- AP3M1 p.Thr51Ala Uncertain significance Single submitter
- AP3M1 p.Tyr330Cys Uncertain significance Single submitter
- AP3M1 p.Val107Ile Uncertain significance Single submitter
- AP3M1 p.Val23Ile Uncertain significance Single submitter
- AP3M1 p.Val274Ala Uncertain significance Single submitter
All AP3M1 variants
Uncertain significance 38
- p.Ala40Val Single submitter ⚠
- p.Arg168Cys Single submitter ⚠
- p.Arg169Gln Single submitter ⚠
- p.Arg241Cys Single submitter ⚠
- p.Arg241His Single submitter ⚠
- p.Arg391Cys Single submitter ⚠
- p.Arg61Gln Single submitter ⚠
- p.Asn145Ser Single submitter ⚠
- p.Asp104Glu Single submitter ⚠
- p.Cys288Trp Single submitter ⚠
- p.Glu243Lys Single submitter ⚠
- p.Gly289Cys Single submitter ⚠
- p.Ile187Val Single submitter ⚠
- p.Ile210Val Single submitter ⚠
- p.Ile260Thr Single submitter ⚠
- p.Ile272Val Single submitter ⚠
- p.Ile375Leu Single submitter ⚠
- p.Ile59Val Single submitter ⚠
- p.Ile80Thr Single submitter ⚠
- p.Leu269Arg Single submitter ⚠
- p.Leu269Pro Single submitter ⚠
- p.Leu351Pro Single submitter ⚠
- p.Lys366Arg Single submitter ⚠
- p.Lys398Thr Single submitter ⚠
- p.Ser127Ala Single submitter ⚠
- p.Ser219Phe Single submitter ⚠
- p.Ser286Cys Single submitter ⚠
- p.Ser362Phe Single submitter ⚠
- p.Thr326Ala Single submitter ⚠
- p.Thr51Ala Single submitter ⚠
- p.Tyr330Cys Single submitter ⚠
- p.Val107Ile Single submitter ⚠
- p.Val23Ile Single submitter ⚠
- p.Val274Ala Single submitter ⚠
- p.Val338Ile Single submitter ⚠
- p.Val389Ala Single submitter ⚠
- p.Val408Ile Single submitter ⚠
- p.Val79Leu Single submitter ⚠