CHMP3 — 12 ClinVar variants
All ClinVar germline CHMP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
12 Uncertain significance
Full CHMP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 7
The independent predictors disagree with each other — read with care.
- CHMP3 p.Ala52Val Uncertain significance Single submitter
- CHMP3 p.Asp153Asn Uncertain significance Single submitter
- CHMP3 p.Ile23Met Uncertain significance Single submitter
- CHMP3 p.Lys10Glu Uncertain significance Single submitter
- CHMP3 p.Met84Val Uncertain significance Single submitter
- CHMP3 p.Ser47Ala Uncertain significance Single submitter
- CHMP3 p.Tyr78Cys Uncertain significance Single submitter
All CHMP3 variants
Uncertain significance 12
- p.Ala52Val Single submitter ⚠
- p.Arg39Thr Single submitter ⚠
- p.Asp152Glu Single submitter ⚠
- p.Asp153Asn Single submitter ⚠
- p.Glu14Lys Single submitter ⚠
- p.Glu18Lys Single submitter ⚠
- p.Ile23Met Single submitter ⚠
- p.Lys10Glu Single submitter ⚠
- p.Met84Val Single submitter ⚠
- p.Ser182Gly Single submitter ⚠
- p.Ser47Ala Single submitter ⚠
- p.Tyr78Cys Single submitter ⚠