CMA1 — 43 ClinVar variants
All ClinVar germline CMA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
3 Likely benign · 40 Uncertain significance
Full CMA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CMA1 p.Ala246Thr Uncertain significance Single submitter
- CMA1 p.Arg145Gln Uncertain significance Single submitter
- CMA1 p.Asn45Lys Uncertain significance Single submitter
- CMA1 p.Cys14Arg Uncertain significance Single submitter
- CMA1 p.Cys188Phe Uncertain significance Single submitter
- CMA1 p.Cys209Ser Uncertain significance Single submitter
- CMA1 p.Gln163Arg Uncertain significance Single submitter
- CMA1 p.Gly24Arg Uncertain significance Single submitter
- CMA1 p.His235Pro Uncertain significance Single submitter
- CMA1 p.Ile41Ser Uncertain significance Single submitter
- CMA1 p.Leu116Ser Uncertain significance Single submitter
- CMA1 p.Leu76Pro Uncertain significance Single submitter
- CMA1 p.Lys196Asn Uncertain significance Single submitter
- CMA1 p.Met36Ile Uncertain significance Single submitter
- CMA1 p.Phe230Leu Uncertain significance Single submitter
- CMA1 p.Pro157Gln Uncertain significance Single submitter
- CMA1 p.Pro157Leu Uncertain significance Single submitter
- CMA1 p.Pro157Thr Uncertain significance Single submitter
- CMA1 p.Thr26Arg Uncertain significance Single submitter
- CMA1 p.Val217Leu Uncertain significance Single submitter
- CMA1 p.Val61Ala Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- CMA1 p.Ala19Thr Uncertain significance Single submitter
- CMA1 p.Arg151Gly Uncertain significance Single submitter
- CMA1 p.Arg221Trp Uncertain significance Single submitter
- CMA1 p.Asn59Lys Uncertain significance Single submitter
- CMA1 p.Asp86Tyr Uncertain significance Single submitter
- CMA1 p.Glu21Asp Uncertain significance Single submitter
- CMA1 p.Gly141Glu Uncertain significance Single submitter
- CMA1 p.Gly153Arg Uncertain significance Single submitter
- CMA1 p.Gly153Cys Uncertain significance Single submitter
- CMA1 p.Gly190Ser Uncertain significance Single submitter
- CMA1 p.His183Tyr Uncertain significance Single submitter
- CMA1 p.Ile23Phe Uncertain significance Single submitter
- CMA1 p.Lys156Asn Uncertain significance Single submitter
- CMA1 p.Lys49Glu Uncertain significance Single submitter
- CMA1 p.Met170Thr Uncertain significance Single submitter
- CMA1 p.Pro226Leu Uncertain significance Single submitter
- CMA1 p.Pro7Arg Uncertain significance Single submitter
- CMA1 p.Ser15Cys Uncertain significance Single submitter
- CMA1 p.Val217Ile Uncertain significance Single submitter
-
CMA1 p.Arg58Gln
Likely benign
No assertion criteria
EBV-positive nodal T- and NK-cell lymphoma
All CMA1 variants
Likely benign 3
- p.Gly46Arg Multiple submitters
- p.Arg70= Single submitter
- p.Arg58Gln No assertion criteria EBV-positive nodal T- and NK-cell lymphoma ⚠
Uncertain significance 40
- p.Ala19Thr Single submitter ⚠
- p.Ala246Thr Single submitter ⚠
- p.Arg145Gln Single submitter ⚠
- p.Arg151Gly Single submitter ⚠
- p.Arg221Trp Single submitter ⚠
- p.Asn45Lys Single submitter ⚠
- p.Asn59Lys Single submitter ⚠
- p.Asp86Tyr Single submitter ⚠
- p.Cys14Arg Single submitter ⚠
- p.Cys188Phe Single submitter ⚠
- p.Cys209Ser Single submitter ⚠
- p.Gln163Arg Single submitter ⚠
- p.Glu21Asp Single submitter ⚠
- p.Gly141Glu Single submitter ⚠
- p.Gly153Arg Single submitter ⚠
- p.Gly153Cys Single submitter ⚠
- p.Gly190Ser Single submitter ⚠
- p.Gly24Arg Single submitter ⚠
- p.His183Tyr Single submitter ⚠
- p.His235Pro Single submitter ⚠
- p.Ile23Phe Single submitter ⚠
- p.Ile41Ser Single submitter ⚠
- p.Leu116Ser Single submitter ⚠
- p.Leu76Pro Single submitter ⚠
- p.Lys156Asn Single submitter ⚠
- p.Lys196Asn Single submitter ⚠
- p.Lys49Glu Single submitter ⚠
- p.Met170Thr Single submitter ⚠
- p.Met36Ile Single submitter ⚠
- p.Phe230Leu Single submitter ⚠
- p.Pro157Gln Single submitter ⚠
- p.Pro157Leu Single submitter ⚠
- p.Pro157Thr Single submitter ⚠
- p.Pro226Leu Single submitter ⚠
- p.Pro7Arg Single submitter ⚠
- p.Ser15Cys Single submitter ⚠
- p.Thr26Arg Single submitter ⚠
- p.Val217Ile Single submitter ⚠
- p.Val217Leu Single submitter ⚠
- p.Val61Ala Single submitter ⚠