PMAIP1 — 2 ClinVar variants
All ClinVar germline PMAIP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2 flagged for review →
2 Uncertain significance
Full PMAIP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 2
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 2
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All PMAIP1 variants
Uncertain significance 2
- p.Ile46Leu Single submitter ⚠
- p.Phe32Cys Single submitter ⚠