CMTM2 — 40 ClinVar variants
All ClinVar germline CMTM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
3 Likely benign · 37 Uncertain significance
Full CMTM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CMTM2 p.Ala181Ser Uncertain significance Single submitter
- CMTM2 p.Arg171Gln Uncertain significance Single submitter
- CMTM2 p.Asn201Ser Uncertain significance Single submitter
- CMTM2 p.Asn79Ser Uncertain significance Single submitter
- CMTM2 p.Glu230Lys Uncertain significance Single submitter
- CMTM2 p.Glu61Lys Uncertain significance Single submitter
- CMTM2 p.Glu74Gln Uncertain significance Single submitter
- CMTM2 p.Gly218Glu Uncertain significance Single submitter
- CMTM2 p.Gly67Arg Uncertain significance Single submitter
- CMTM2 p.Gly86Val Uncertain significance Single submitter
- CMTM2 p.Lys206Glu Uncertain significance Single submitter
- CMTM2 p.Val165Ile Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- CMTM2 p.Ala163Gly Likely benign Single submitter
- CMTM2 p.Ala181Val Uncertain significance Single submitter
- CMTM2 p.Ala88Thr Uncertain significance Single submitter
- CMTM2 p.Ala9Thr Uncertain significance Single submitter
- CMTM2 p.Arg171Trp Uncertain significance Single submitter
- CMTM2 p.Arg69Pro Uncertain significance Single submitter
- CMTM2 p.Arg70Cys Uncertain significance Single submitter
- CMTM2 p.Gly218Arg Uncertain significance Single submitter
- CMTM2 p.Gly222Arg Uncertain significance Single submitter
- CMTM2 p.His137Arg Uncertain significance Single submitter
- CMTM2 p.Ile99Thr Uncertain significance Single submitter
- CMTM2 p.Leu104Arg Uncertain significance Single submitter
- CMTM2 p.Leu130Ser Uncertain significance Single submitter
- CMTM2 p.Lys221Glu Uncertain significance Single submitter
- CMTM2 p.Lys54Thr Uncertain significance Single submitter
- CMTM2 p.Phe125Ser Uncertain significance Single submitter
- CMTM2 p.Pro17Gln Uncertain significance Single submitter
- CMTM2 p.Pro229Thr Uncertain significance Single submitter
- CMTM2 p.Pro231Ser Uncertain significance Single submitter
- CMTM2 p.Pro237Ala Uncertain significance Single submitter
- CMTM2 p.Pro241Leu Uncertain significance Single submitter
- CMTM2 p.Pro48Ser Uncertain significance Single submitter
- CMTM2 p.Ser35Leu Uncertain significance Single submitter
- CMTM2 p.Tyr178Cys Uncertain significance Single submitter
- CMTM2 p.Val110Met Uncertain significance Single submitter
- CMTM2 p.Val164Met Uncertain significance Single submitter
All CMTM2 variants
Likely benign 3
- p.Ala163Gly Single submitter ⚠
- p.Arg172Gln Single submitter
- p.Ile140Met Single submitter
Uncertain significance 37
- p.Ala181Ser Single submitter ⚠
- p.Ala181Val Single submitter ⚠
- p.Ala88Thr Single submitter ⚠
- p.Ala9Thr Single submitter ⚠
- p.Arg171Gln Single submitter ⚠
- p.Arg171Trp Single submitter ⚠
- p.Arg69Pro Single submitter ⚠
- p.Arg70Cys Single submitter ⚠
- p.Asn201Ser Single submitter ⚠
- p.Asn79Ser Single submitter ⚠
- p.Glu230Lys Single submitter ⚠
- p.Glu61Lys Single submitter ⚠
- p.Glu74Gln Single submitter ⚠
- p.Gly218Arg Single submitter ⚠
- p.Gly218Glu Single submitter ⚠
- p.Gly222Arg Single submitter ⚠
- p.Gly67Arg Single submitter ⚠
- p.Gly86Val Single submitter ⚠
- p.His137Arg Single submitter ⚠
- p.Ile99Thr Single submitter ⚠
- p.Leu104Arg Single submitter ⚠
- p.Leu130Ser Single submitter ⚠
- p.Lys206Glu Single submitter ⚠
- p.Lys221Glu Single submitter ⚠
- p.Lys54Thr Single submitter ⚠
- p.Phe125Ser Single submitter ⚠
- p.Pro17Gln Single submitter ⚠
- p.Pro229Thr Single submitter ⚠
- p.Pro231Ser Single submitter ⚠
- p.Pro237Ala Single submitter ⚠
- p.Pro241Leu Single submitter ⚠
- p.Pro48Ser Single submitter ⚠
- p.Ser35Leu Single submitter ⚠
- p.Tyr178Cys Single submitter ⚠
- p.Val110Met Single submitter ⚠
- p.Val164Met Single submitter ⚠
- p.Val165Ile Single submitter ⚠