CMAS — 38 ClinVar variants
All ClinVar germline CMAS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 34 flagged for review →
2 Benign · 1 Benign/Likely benign · 2 Likely benign · 33 Uncertain significance
Full CMAS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 34
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CMAS p.Ala328Pro Uncertain significance Single submitter
- CMAS p.Arg175Cys Uncertain significance Single submitter
- CMAS p.Arg203Cys Uncertain significance Single submitter
- CMAS p.Arg241Gln Uncertain significance Single submitter
- CMAS p.Arg52Gly Uncertain significance Single submitter
- CMAS p.Asn131Ser Uncertain significance Single submitter
- CMAS p.Asn288Ser Uncertain significance Single submitter
- CMAS p.Asp249Glu Uncertain significance Single submitter
- CMAS p.Asp283Ala Uncertain significance Single submitter
- CMAS p.Glu135Asp Uncertain significance Single submitter
- CMAS p.Glu163Lys Uncertain significance Single submitter
- CMAS p.Gly54Asp Uncertain significance Single submitter
- CMAS p.Ile127Thr Uncertain significance Single submitter
- CMAS p.Ile161Val Uncertain significance Single submitter
- CMAS p.Ile225Val Uncertain significance Single submitter
- CMAS p.Ile248Thr Uncertain significance Single submitter
- CMAS p.Lys399Arg Uncertain significance Single submitter
- CMAS p.Met343Ile Uncertain significance Single submitter
- CMAS p.Ser245Ile Uncertain significance Single submitter
- CMAS p.Ser325Ala Uncertain significance Single submitter
- CMAS p.Ser3Leu Uncertain significance Single submitter
- CMAS p.Thr145Pro Uncertain significance Single submitter
- CMAS p.Val293Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- CMAS p.Ala389Val Likely benign Single submitter
- CMAS p.Arg175His Uncertain significance Single submitter
- CMAS p.Arg18Leu Uncertain significance Single submitter
- CMAS p.Arg415Gln Uncertain significance Single submitter
- CMAS p.Asp392Asn Uncertain significance Single submitter
- CMAS p.His44Tyr Uncertain significance Single submitter
- CMAS p.Leu262Ser Uncertain significance Single submitter
- CMAS p.Leu381Phe Uncertain significance Single submitter
- CMAS p.Thr121Pro Uncertain significance Single submitter
- CMAS p.Tyr292Cys Uncertain significance Single submitter
- CMAS p.Val401Phe Uncertain significance Single submitter
All CMAS variants
Benign 2
- p.Lys26= Multiple submitters
- c.1114+7_1114+9dup Single submitter
Benign/Likely benign 1
- p.Tyr403= Multiple submitters
Likely benign 2
- p.Ala389Val Single submitter ⚠
- p.Gly83= Single submitter
Uncertain significance 33
- p.Ala328Pro Single submitter ⚠
- p.Arg175Cys Single submitter ⚠
- p.Arg175His Single submitter ⚠
- p.Arg18Leu Single submitter ⚠
- p.Arg203Cys Single submitter ⚠
- p.Arg241Gln Single submitter ⚠
- p.Arg415Gln Single submitter ⚠
- p.Arg52Gly Single submitter ⚠
- p.Asn131Ser Single submitter ⚠
- p.Asn288Ser Single submitter ⚠
- p.Asp249Glu Single submitter ⚠
- p.Asp283Ala Single submitter ⚠
- p.Asp392Asn Single submitter ⚠
- p.Glu135Asp Single submitter ⚠
- p.Glu163Lys Single submitter ⚠
- p.Gly54Asp Single submitter ⚠
- p.His44Tyr Single submitter ⚠
- p.Ile127Thr Single submitter ⚠
- p.Ile161Val Single submitter ⚠
- p.Ile225Val Single submitter ⚠
- p.Ile248Thr Single submitter ⚠
- p.Leu262Ser Single submitter ⚠
- p.Leu381Phe Single submitter ⚠
- p.Lys399Arg Single submitter ⚠
- p.Met343Ile Single submitter ⚠
- p.Ser245Ile Single submitter ⚠
- p.Ser325Ala Single submitter ⚠
- p.Ser3Leu Single submitter ⚠
- p.Thr121Pro Single submitter ⚠
- p.Thr145Pro Single submitter ⚠
- p.Tyr292Cys Single submitter ⚠
- p.Val293Ile Single submitter ⚠
- p.Val401Phe Single submitter ⚠