CNMD — 58 ClinVar variants
All ClinVar germline CNMD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
1 Benign · 2 Likely benign · 55 Uncertain significance
Full CNMD gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CNMD p.Ala112Thr Uncertain significance Single submitter
- CNMD p.Ala139Val Uncertain significance Single submitter
- CNMD p.Ala44Thr Uncertain significance Single submitter
- CNMD p.Ala94Thr Uncertain significance Single submitter
- CNMD p.Arg211Lys Uncertain significance Single submitter
- CNMD p.Arg218Lys Uncertain significance Single submitter
- CNMD p.Arg233Trp Uncertain significance Single submitter
- CNMD p.Arg287Lys Uncertain significance Single submitter
- CNMD p.Arg38Gln Uncertain significance Single submitter
- CNMD p.Asn243Lys Uncertain significance Single submitter
- CNMD p.Asn82Ser Uncertain significance Single submitter
- CNMD p.Asp195Asn Uncertain significance Single submitter
- CNMD p.Asp259Val Uncertain significance Single submitter
- CNMD p.Cys21Phe Uncertain significance Single submitter
- CNMD p.Cys323Arg Uncertain significance Single submitter
- CNMD p.Gln177Leu Uncertain significance Single submitter
- CNMD p.Glu279Lys Uncertain significance Single submitter
- CNMD p.Glu285Gln Uncertain significance Single submitter
- CNMD p.Gly158Ser Uncertain significance Single submitter
- CNMD p.Gly60Glu Uncertain significance Single submitter
- CNMD p.His229Leu Uncertain significance Single submitter
- CNMD p.His263Tyr Uncertain significance Single submitter
- CNMD p.Ile171Thr Uncertain significance Single submitter
- CNMD p.Ile198Val Uncertain significance Single submitter
- CNMD p.Ile281Leu Uncertain significance Single submitter
- CNMD p.Ile92Met Uncertain significance Single submitter
- CNMD p.Leu12Val Uncertain significance Single submitter
- CNMD p.Leu156Gln Uncertain significance Single submitter
- CNMD p.Leu47Pro Uncertain significance Single submitter
- CNMD p.Lys149Arg Uncertain significance Single submitter
- CNMD p.Lys155Gln Uncertain significance Single submitter
- CNMD p.Lys180Glu Uncertain significance Single submitter
- CNMD p.Lys295Met Uncertain significance Single submitter
- CNMD p.Lys84Glu Uncertain significance Single submitter
- CNMD p.Phe62Ser Uncertain significance Single submitter
- CNMD p.Pro15Ser Uncertain significance Single submitter
- CNMD p.Pro236Ala Uncertain significance Single submitter
- CNMD p.Pro24Leu Uncertain significance Single submitter
- CNMD p.Ser154Thr Uncertain significance Single submitter
- CNMD p.Ser315Leu Uncertain significance Single submitter
- CNMD p.Thr291Asn Uncertain significance Single submitter
- CNMD p.Trp172Ser Uncertain significance Single submitter
- CNMD p.Tyr308Cys Uncertain significance Single submitter
- CNMD p.Val13Gly Uncertain significance Single submitter
- CNMD p.Val13Leu Uncertain significance Single submitter
- CNMD p.Val319Ile Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- CNMD p.Arg124His Uncertain significance Single submitter
- CNMD p.Arg140Cys Uncertain significance Single submitter
- CNMD p.Asp176Val Uncertain significance Single submitter
- CNMD p.Gln294Pro Uncertain significance Single submitter
- CNMD p.Glu298Gly Uncertain significance Single submitter
- CNMD p.Gly128Glu Uncertain significance Single submitter
- CNMD p.Gly280Val Uncertain significance Single submitter
- CNMD p.Ser169Tyr Uncertain significance Single submitter
- CNMD p.Ser183Ile Uncertain significance Single submitter
All CNMD variants
Benign 1
- p.Val45= Multiple submitters
Likely benign 2
- p.Ala146Thr Single submitter
- p.Val147Met Single submitter
Uncertain significance 55
- p.Ala112Thr Single submitter ⚠
- p.Ala139Val Single submitter ⚠
- p.Ala44Thr Single submitter ⚠
- p.Ala94Thr Single submitter ⚠
- p.Arg124His Single submitter ⚠
- p.Arg140Cys Single submitter ⚠
- p.Arg211Lys Single submitter ⚠
- p.Arg218Lys Single submitter ⚠
- p.Arg233Trp Single submitter ⚠
- p.Arg287Lys Single submitter ⚠
- p.Arg38Gln Single submitter ⚠
- p.Asn243Lys Single submitter ⚠
- p.Asn82Ser Single submitter ⚠
- p.Asp176Val Single submitter ⚠
- p.Asp195Asn Single submitter ⚠
- p.Asp259Val Single submitter ⚠
- p.Cys21Phe Single submitter ⚠
- p.Cys323Arg Single submitter ⚠
- p.Gln177Leu Single submitter ⚠
- p.Gln294Pro Single submitter ⚠
- p.Glu279Lys Single submitter ⚠
- p.Glu285Gln Single submitter ⚠
- p.Glu298Gly Single submitter ⚠
- p.Gly128Glu Single submitter ⚠
- p.Gly158Ser Single submitter ⚠
- p.Gly280Val Single submitter ⚠
- p.Gly60Glu Single submitter ⚠
- p.His229Leu Single submitter ⚠
- p.His263Tyr Single submitter ⚠
- p.Ile171Thr Single submitter ⚠
- p.Ile198Val Single submitter ⚠
- p.Ile281Leu Single submitter ⚠
- p.Ile92Met Single submitter ⚠
- p.Leu12Val Single submitter ⚠
- p.Leu156Gln Single submitter ⚠
- p.Leu47Pro Single submitter ⚠
- p.Lys149Arg Single submitter ⚠
- p.Lys155Gln Single submitter ⚠
- p.Lys180Glu Single submitter ⚠
- p.Lys295Met Single submitter ⚠
- p.Lys84Glu Single submitter ⚠
- p.Phe62Ser Single submitter ⚠
- p.Pro15Ser Single submitter ⚠
- p.Pro236Ala Single submitter ⚠
- p.Pro24Leu Single submitter ⚠
- p.Ser154Thr Single submitter ⚠
- p.Ser169Tyr Single submitter ⚠
- p.Ser183Ile Single submitter ⚠
- p.Ser315Leu Single submitter ⚠
- p.Thr291Asn Single submitter ⚠
- p.Trp172Ser Single submitter ⚠
- p.Tyr308Cys Single submitter ⚠
- p.Val13Gly Single submitter ⚠
- p.Val13Leu Single submitter ⚠
- p.Val319Ile Single submitter ⚠