CMC4 — 9 ClinVar variants
All ClinVar germline CMC4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
1 Likely benign · 8 Uncertain significance
Full CMC4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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 5
The independent predictors disagree with each other — read with care.
All CMC4 variants
Likely benign 1
- p.Cys50Ser No assertion criteria
Uncertain significance 8
- p.Arg36Cys Single submitter ⚠
- p.Arg63Gln Single submitter ⚠
- p.Gln3Arg Single submitter ⚠
- p.Ile14Thr Single submitter ⚠
- p.Lys16Gln Single submitter ⚠
- p.Met24Thr Single submitter ⚠
- p.Pro2Leu Single submitter ⚠
- p.Ser65Pro Single submitter ⚠