CMC2 — 11 ClinVar variants
All ClinVar germline CMC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
2 Likely benign · 9 Uncertain significance
Full CMC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 3
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 6
The independent predictors disagree with each other — read with care.
- CMC2 p.Arg42Trp Uncertain significance Single submitter
- CMC2 p.Asn29Asp Uncertain significance Single submitter
- CMC2 p.Asn38Ser Uncertain significance Single submitter
- CMC2 p.Ser59Cys Uncertain significance Single submitter
- CMC2 p.Ser77Cys Uncertain significance Single submitter
- CMC2 p.Tyr52Asp Uncertain significance Single submitter
All CMC2 variants
Likely benign 2
- p.Asn55Lys Single submitter
- p.Val16Ile Single submitter
Uncertain significance 9
- p.Arg42Trp Single submitter ⚠
- p.Asn29Asp Single submitter ⚠
- p.Asn38Ser Single submitter ⚠
- p.Glu78Lys Single submitter ⚠
- p.His10Asp Single submitter ⚠
- p.Lys58Arg Single submitter ⚠
- p.Ser59Cys Single submitter ⚠
- p.Ser77Cys Single submitter ⚠
- p.Tyr52Asp Single submitter ⚠