CMTR1 — 73 ClinVar variants
All ClinVar germline CMTR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
2 Likely benign · 71 Uncertain significance
Full CMTR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 57
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CMTR1 p.Ala462Glu Uncertain significance Single submitter
- CMTR1 p.Arg144Gln Uncertain significance Single submitter
- CMTR1 p.Arg218Trp Uncertain significance Single submitter
- CMTR1 p.Arg249His Uncertain significance Single submitter
- CMTR1 p.Arg346Gln Uncertain significance Single submitter
- CMTR1 p.Arg396Gln Uncertain significance Single submitter
- CMTR1 p.Arg498Gln Uncertain significance Single submitter
- CMTR1 p.Arg617Cys Uncertain significance Single submitter
- CMTR1 p.Arg617His Uncertain significance Single submitter
- CMTR1 p.Arg741Trp Uncertain significance Single submitter
- CMTR1 p.Arg808Cys Uncertain significance Single submitter
- CMTR1 p.Arg808His Uncertain significance Single submitter
- CMTR1 p.Arg83Cys Uncertain significance Single submitter
- CMTR1 p.Asn478Ser Uncertain significance Single submitter
- CMTR1 p.Asp173Asn Uncertain significance Single submitter
- CMTR1 p.Asp256Asn Uncertain significance Single submitter
- CMTR1 p.Asp69Asn Uncertain significance Single submitter
- CMTR1 p.Gln544Glu Uncertain significance Single submitter
- CMTR1 p.Glu104Lys Uncertain significance Single submitter
- CMTR1 p.Glu58Lys Uncertain significance Single submitter
- CMTR1 p.Glu599Gly Uncertain significance Single submitter
- CMTR1 p.Glu802Asp Uncertain significance Single submitter
- CMTR1 p.Gly124Val Uncertain significance Single submitter
- CMTR1 p.Gly540Arg Uncertain significance Single submitter
- CMTR1 p.Gly605Ser Uncertain significance Single submitter
- CMTR1 p.His197Tyr Uncertain significance Single submitter
- CMTR1 p.Ile13Met Uncertain significance Single submitter
- CMTR1 p.Ile330Asn Uncertain significance Single submitter
- CMTR1 p.Ile658Val Uncertain significance Single submitter
- CMTR1 p.Ile807Thr Uncertain significance Single submitter
- CMTR1 p.Leu25Val Uncertain significance Single submitter
- CMTR1 p.Leu379Phe Uncertain significance Single submitter
- CMTR1 p.Leu408Val Uncertain significance Single submitter
- CMTR1 p.Lys820Arg Uncertain significance Single submitter
- CMTR1 p.Met496Thr Uncertain significance Single submitter
- CMTR1 p.Met86Val Uncertain significance Single submitter
- CMTR1 p.Phe251Leu Uncertain significance Single submitter
- CMTR1 p.Pro254Gln Uncertain significance Single submitter
- CMTR1 p.Pro35Leu Uncertain significance Single submitter
- CMTR1 p.Pro35Ser Uncertain significance Single submitter
- CMTR1 p.Pro36Thr Uncertain significance Single submitter
- CMTR1 p.Ser150Asn Uncertain significance Single submitter
- CMTR1 p.Ser55Asn Uncertain significance Single submitter
- CMTR1 p.Ser691Ala Uncertain significance Single submitter
- CMTR1 p.Ser81Cys Uncertain significance Single submitter
- CMTR1 p.Thr10Ile Uncertain significance Single submitter
- CMTR1 p.Thr30Met Uncertain significance Single submitter
- CMTR1 p.Thr473Met Uncertain significance Single submitter
- CMTR1 p.Thr47Ile Uncertain significance Single submitter
- CMTR1 p.Thr48Ile Uncertain significance Single submitter
- CMTR1 p.Thr613Ile Uncertain significance Single submitter
- CMTR1 p.Tyr272His Uncertain significance Single submitter
- CMTR1 p.Val155Met Uncertain significance Single submitter
- CMTR1 p.Val477Ile Uncertain significance Single submitter
- CMTR1 p.Val480Ala Uncertain significance Single submitter
- CMTR1 p.Val690Ile Uncertain significance Single submitter
- CMTR1 p.Val90Ile Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- CMTR1 p.Ala512Glu Uncertain significance Single submitter
- CMTR1 p.Arg346Trp Uncertain significance Single submitter
- CMTR1 p.Arg527Gln Uncertain significance Single submitter
- CMTR1 p.Arg695Gln Uncertain significance Single submitter
- CMTR1 p.Asn306Ser Uncertain significance Single submitter
- CMTR1 p.Asp474Gly Uncertain significance Single submitter
- CMTR1 p.Glu534Lys Uncertain significance Single submitter
- CMTR1 p.Lys769Met Uncertain significance Single submitter
- CMTR1 p.Phe231Leu Uncertain significance Single submitter
- CMTR1 p.Phe461Leu Uncertain significance Single submitter
All CMTR1 variants
Likely benign 2
- p.Arg133Gln Single submitter
- p.Val417Ile Single submitter
Uncertain significance 71
- p.Ala217Gly Single submitter
- p.Ala462Glu Single submitter ⚠
- p.Ala512Glu Single submitter ⚠
- p.Arg144Gln Single submitter ⚠
- p.Arg218Trp Single submitter ⚠
- p.Arg249His Single submitter ⚠
- p.Arg346Gln Single submitter ⚠
- p.Arg346Trp Single submitter ⚠
- p.Arg396Gln Single submitter ⚠
- p.Arg498Gln Single submitter ⚠
- p.Arg527Gln Single submitter ⚠
- p.Arg617Cys Single submitter ⚠
- p.Arg617His Single submitter ⚠
- p.Arg695Gln Single submitter ⚠
- p.Arg738His Single submitter
- p.Arg741Trp Single submitter ⚠
- p.Arg808Cys Single submitter ⚠
- p.Arg808His Single submitter ⚠
- p.Arg83Cys Single submitter ⚠
- p.Asn306Ser Single submitter ⚠
- p.Asn478Ser Single submitter ⚠
- p.Asp173Asn Single submitter ⚠
- p.Asp256Asn Single submitter ⚠
- p.Asp474Gly Single submitter ⚠
- p.Asp69Asn Single submitter ⚠
- p.Gln544Glu Single submitter ⚠
- p.Glu104Lys Single submitter ⚠
- p.Glu534Lys Single submitter ⚠
- p.Glu58Lys Single submitter ⚠
- p.Glu599Gly Single submitter ⚠
- p.Glu684Lys Single submitter
- p.Glu802Asp Single submitter ⚠
- p.Gly124Val Single submitter ⚠
- p.Gly540Arg Single submitter ⚠
- p.Gly605Ser Single submitter ⚠
- p.His197Tyr Single submitter ⚠
- p.Ile13Met Single submitter ⚠
- p.Ile330Asn Single submitter ⚠
- p.Ile658Val Single submitter ⚠
- p.Ile807Thr Single submitter ⚠
- p.Leu25Val Single submitter ⚠
- p.Leu379Phe Single submitter ⚠
- p.Leu408Val Single submitter ⚠
- p.Lys769Met Single submitter ⚠
- p.Lys820Arg Single submitter ⚠
- p.Met496Thr Single submitter ⚠
- p.Met86Val Single submitter ⚠
- p.Phe231Leu Single submitter ⚠
- p.Phe251Leu Single submitter ⚠
- p.Phe461Leu Single submitter ⚠
- p.Pro254Gln Single submitter ⚠
- p.Pro35Leu Single submitter ⚠
- p.Pro35Ser Single submitter ⚠
- p.Pro36Thr Single submitter ⚠
- p.Pro482Ser Single submitter
- p.Ser150Asn Single submitter ⚠
- p.Ser55Asn Single submitter ⚠
- p.Ser691Ala Single submitter ⚠
- p.Ser81Cys Single submitter ⚠
- p.Thr10Ile Single submitter ⚠
- p.Thr30Met Single submitter ⚠
- p.Thr473Met Single submitter ⚠
- p.Thr47Ile Single submitter ⚠
- p.Thr48Ile Single submitter ⚠
- p.Thr613Ile Single submitter ⚠
- p.Tyr272His Single submitter ⚠
- p.Val155Met Single submitter ⚠
- p.Val477Ile Single submitter ⚠
- p.Val480Ala Single submitter ⚠
- p.Val690Ile Single submitter ⚠
- p.Val90Ile Single submitter ⚠