CMTM5 — 44 ClinVar variants
All ClinVar germline CMTM5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
2 Benign · 3 Likely benign · 39 Uncertain significance
Full CMTM5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CMTM5 p.Ala217Thr Uncertain significance Single submitter
- CMTM5 p.Ala24Thr Uncertain significance Single submitter
- CMTM5 p.Ala43Ser Uncertain significance Single submitter
- CMTM5 p.Arg10Gln Uncertain significance Single submitter
- CMTM5 p.Arg183Gln Uncertain significance Single submitter
- CMTM5 p.Arg5Gln Uncertain significance Single submitter
- CMTM5 p.Arg84Cys Uncertain significance Single submitter
- CMTM5 p.Arg87Gln Uncertain significance Single submitter
- CMTM5 p.Arg8Gln Uncertain significance Single submitter
- CMTM5 p.Asp221Tyr Uncertain significance Single submitter
- CMTM5 p.Gln80Glu Uncertain significance Single submitter
- CMTM5 p.Glu13Val Uncertain significance Single submitter
- CMTM5 p.Gly15Arg Uncertain significance Single submitter
- CMTM5 p.Gly185Arg Uncertain significance Single submitter
- CMTM5 p.Gly194Val Uncertain significance Single submitter
- CMTM5 p.Ile170Val Uncertain significance Single submitter
- CMTM5 p.Ile171Val Uncertain significance Single submitter
- CMTM5 p.Ile188Val Uncertain significance Single submitter
- CMTM5 p.Ile48Leu Uncertain significance Single submitter
- CMTM5 p.Ile48Val Uncertain significance Single submitter
- CMTM5 p.Ile56Val Uncertain significance Single submitter
- CMTM5 p.Leu74His Uncertain significance Single submitter
- CMTM5 p.Pro12Leu Uncertain significance Single submitter
- CMTM5 p.Ser167Cys Uncertain significance Single submitter
- CMTM5 p.Thr40Ser Uncertain significance Single submitter
- CMTM5 p.Thr53Met Uncertain significance Single submitter
- CMTM5 p.Val166Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- CMTM5 p.Ala62Thr Uncertain significance Single submitter
- CMTM5 p.Ala62Val Uncertain significance Single submitter
- CMTM5 p.Ala63Val Uncertain significance Single submitter
- CMTM5 p.Arg164Cys Uncertain significance Single submitter
- CMTM5 p.Arg183Trp Uncertain significance Single submitter
- CMTM5 p.Glu41Lys Uncertain significance Single submitter
- CMTM5 p.Glu66Gly Uncertain significance Single submitter
- CMTM5 p.Ile170Phe Uncertain significance Single submitter
- CMTM5 p.Phe162Tyr Uncertain significance Single submitter
- CMTM5 p.Phe52Ser Uncertain significance Single submitter
- CMTM5 p.Thr45Asn Uncertain significance Single submitter
- CMTM5 p.Thr45Ser Uncertain significance Single submitter
All CMTM5 variants
Likely benign 3
- p.Asp86Asn Single submitter
- p.Gly216Arg Single submitter
- p.Ile200Val Single submitter
Uncertain significance 39
- p.Ala217Thr Single submitter ⚠
- p.Ala24Thr Single submitter ⚠
- p.Ala43Ser Single submitter ⚠
- p.Ala62Thr Single submitter ⚠
- p.Ala62Val Single submitter ⚠
- p.Ala63Val Single submitter ⚠
- p.Arg10Gln Single submitter ⚠
- p.Arg164Cys Single submitter ⚠
- p.Arg183Gln Single submitter ⚠
- p.Arg183Trp Single submitter ⚠
- p.Arg5Gln Single submitter ⚠
- p.Arg84Cys Single submitter ⚠
- p.Arg87Gln Single submitter ⚠
- p.Arg8Gln Single submitter ⚠
- p.Asp221Tyr Single submitter ⚠
- p.Gln80Glu Single submitter ⚠
- p.Glu13Val Single submitter ⚠
- p.Glu41Lys Single submitter ⚠
- p.Glu66Gly Single submitter ⚠
- p.Gly15Arg Single submitter ⚠
- p.Gly185Arg Single submitter ⚠
- p.Gly194Val Single submitter ⚠
- p.Ile170Phe Single submitter ⚠
- p.Ile170Val Single submitter ⚠
- p.Ile171Val Single submitter ⚠
- p.Ile188Val Single submitter ⚠
- p.Ile48Leu Single submitter ⚠
- p.Ile48Val Single submitter ⚠
- p.Ile56Val Single submitter ⚠
- p.Leu74His Single submitter ⚠
- p.Phe162Tyr Single submitter ⚠
- p.Phe52Ser Single submitter ⚠
- p.Pro12Leu Single submitter ⚠
- p.Ser167Cys Single submitter ⚠
- p.Thr40Ser Single submitter ⚠
- p.Thr45Asn Single submitter ⚠
- p.Thr45Ser Single submitter ⚠
- p.Thr53Met Single submitter ⚠
- p.Val166Ile Single submitter ⚠