PA2G4 — 13 ClinVar variants
All ClinVar germline PA2G4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 13 flagged for review →
13 Uncertain significance
Full PA2G4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 13
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PA2G4 p.Ala356Val Uncertain significance Single submitter
- PA2G4 p.Arg249Gln Uncertain significance Single submitter
- PA2G4 p.Asn328Ser Uncertain significance Single submitter
- PA2G4 p.Gln203His Uncertain significance Single submitter
- PA2G4 p.His175Asn Uncertain significance Single submitter
- PA2G4 p.Ile74Val Uncertain significance Single submitter
- PA2G4 p.Lys344Arg Uncertain significance Single submitter
- PA2G4 p.Lys373Arg Uncertain significance Single submitter
- PA2G4 p.Lys65Arg Uncertain significance Single submitter
- PA2G4 p.Pro340Ser Uncertain significance Single submitter
- PA2G4 p.Thr180Met Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All PA2G4 variants
Uncertain significance 13
- p.Ala356Val Single submitter ⚠
- p.Arg249Gln Single submitter ⚠
- p.Asn328Ser Single submitter ⚠
- p.Gln203His Single submitter ⚠
- p.Gly103Ser Single submitter ⚠
- p.His175Asn Single submitter ⚠
- p.Ile74Val Single submitter ⚠
- p.Lys344Arg Single submitter ⚠
- p.Lys373Arg Single submitter ⚠
- p.Lys65Arg Single submitter ⚠
- p.Pro340Ser Single submitter ⚠
- p.Thr180Met Single submitter ⚠
- p.Thr206Ile Single submitter ⚠