CMSS1 — 37 ClinVar variants
All ClinVar germline CMSS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
1 Benign · 1 Likely benign · 35 Uncertain significance
Full CMSS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CMSS1 p.Arg107Cys Uncertain significance Single submitter
- CMSS1 p.Arg204Cys Uncertain significance Single submitter
- CMSS1 p.Arg204Ser Uncertain significance Single submitter
- CMSS1 p.Cys121Arg Uncertain significance Single submitter
- CMSS1 p.Glu138Gln Uncertain significance Single submitter
- CMSS1 p.Glu218Asp Uncertain significance Single submitter
- CMSS1 p.Glu252Lys Uncertain significance Single submitter
- CMSS1 p.Glu86Gln Uncertain significance Single submitter
- CMSS1 p.Gly16Glu Uncertain significance Single submitter
- CMSS1 p.Gly211Glu Uncertain significance Single submitter
- CMSS1 p.Leu208Arg Uncertain significance Single submitter
- CMSS1 p.Lys124Arg Uncertain significance Single submitter
- CMSS1 p.Lys84Asn Uncertain significance Single submitter
- CMSS1 p.Met35Lys Uncertain significance Single submitter
- CMSS1 p.Ser131Asn Uncertain significance Single submitter
- CMSS1 p.Ser228Arg Uncertain significance Single submitter
- CMSS1 p.Trp237Arg Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- CMSS1 p.Ala83Gly Uncertain significance Single submitter
- CMSS1 p.Arg107His Uncertain significance Single submitter
- CMSS1 p.Asp94Gly Uncertain significance Single submitter
- CMSS1 p.Glu256Lys Uncertain significance Single submitter
- CMSS1 p.Glu259Lys Uncertain significance Single submitter
- CMSS1 p.Glu33Gln Uncertain significance Single submitter
- CMSS1 p.Glu8Gln Uncertain significance Single submitter
- CMSS1 p.Ile192Arg Uncertain significance Single submitter
- CMSS1 p.Ile250Leu Uncertain significance Single submitter
- CMSS1 p.Leu136Ile Uncertain significance Single submitter
- CMSS1 p.Lys137Asn Uncertain significance Single submitter
- CMSS1 p.Lys148Asn Uncertain significance Single submitter
- CMSS1 p.Ser105Ile Uncertain significance Single submitter
- CMSS1 p.Ser131Cys Uncertain significance Single submitter
- CMSS1 p.Ser267Arg Uncertain significance Single submitter
- CMSS1 p.Ser267Thr Uncertain significance Single submitter
- CMSS1 p.Thr129Ile Uncertain significance Single submitter
- CMSS1 p.Tyr102Cys Uncertain significance Single submitter
All CMSS1 variants
Benign 1
- c.64+106369C>T No assertion criteria CMSS1-related disorder
Likely benign 1
- p.Ala196Glu Single submitter
Uncertain significance 35
- p.Ala83Gly Single submitter ⚠
- p.Arg107Cys Single submitter ⚠
- p.Arg107His Single submitter ⚠
- p.Arg204Cys Single submitter ⚠
- p.Arg204Ser Single submitter ⚠
- p.Asp94Gly Single submitter ⚠
- p.Cys121Arg Single submitter ⚠
- p.Glu138Gln Single submitter ⚠
- p.Glu218Asp Single submitter ⚠
- p.Glu252Lys Single submitter ⚠
- p.Glu256Lys Single submitter ⚠
- p.Glu259Lys Single submitter ⚠
- p.Glu33Gln Single submitter ⚠
- p.Glu86Gln Single submitter ⚠
- p.Glu8Gln Single submitter ⚠
- p.Gly16Glu Single submitter ⚠
- p.Gly211Glu Single submitter ⚠
- p.Ile192Arg Single submitter ⚠
- p.Ile250Leu Single submitter ⚠
- p.Leu136Ile Single submitter ⚠
- p.Leu208Arg Single submitter ⚠
- p.Lys124Arg Single submitter ⚠
- p.Lys137Asn Single submitter ⚠
- p.Lys148Asn Single submitter ⚠
- p.Lys84Asn Single submitter ⚠
- p.Met35Lys Single submitter ⚠
- p.Ser105Ile Single submitter ⚠
- p.Ser131Asn Single submitter ⚠
- p.Ser131Cys Single submitter ⚠
- p.Ser228Arg Single submitter ⚠
- p.Ser267Arg Single submitter ⚠
- p.Ser267Thr Single submitter ⚠
- p.Thr129Ile Single submitter ⚠
- p.Trp237Arg Single submitter ⚠
- p.Tyr102Cys Single submitter ⚠