CYP2C9 — 48 ClinVar variants
All ClinVar germline CYP2C9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
1 Pathogenic · 3 Benign · 9 Likely benign · 35 Uncertain significance
Full CYP2C9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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CYP2C9 p.Leu208Val
Pathogenic
No assertion criteria
coumarin resistance
Predictors lean, ClinVar uncertain 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYP2C9 p.Ala297Val Uncertain significance Single submitter
- CYP2C9 p.Ala309Val Uncertain significance Single submitter
- CYP2C9 p.Asn259Ser Uncertain significance Single submitter
- CYP2C9 p.Gln324His Uncertain significance Single submitter
- CYP2C9 p.Glu274Gln Uncertain significance Single submitter
- CYP2C9 p.Glu300Val Uncertain significance Single submitter
- CYP2C9 p.Gly228Glu Uncertain significance Single submitter
- CYP2C9 p.Gly46Val Uncertain significance Single submitter
- CYP2C9 p.His344Leu Uncertain significance Single submitter
- CYP2C9 p.Ile182Met Uncertain significance Single submitter
- CYP2C9 p.Leu15Ile Uncertain significance Single submitter
- CYP2C9 p.Leu306Pro Uncertain significance Single submitter
- CYP2C9 p.Leu9Phe Uncertain significance Single submitter
- CYP2C9 p.Met345Ile Uncertain significance Single submitter
- CYP2C9 p.Pro211Ser Uncertain significance Single submitter
- CYP2C9 p.Pro35Ser Uncertain significance Single submitter
- CYP2C9 p.Ser303Gly Uncertain significance Single submitter
- CYP2C9 p.Ser365Ile Uncertain significance Single submitter
- CYP2C9 p.Thr386Asn Uncertain significance Single submitter
- CYP2C9 p.Val6Phe Uncertain significance Single submitter
- CYP2C9 p.Ser478Thr Uncertain significance No assertion criteria
Predictors split 14
The independent predictors disagree with each other — read with care.
- CYP2C9 p.Arg125His Benign Multiple submitters
- CYP2C9 p.His251Arg Benign Multiple submitters
- CYP2C9 p.Asp468His Uncertain significance Single submitter
- CYP2C9 p.Asp89Gly Uncertain significance Single submitter
- CYP2C9 p.Cys10Tyr Uncertain significance Single submitter
- CYP2C9 p.Ile331Thr Uncertain significance Single submitter
- CYP2C9 p.Leu170Met Uncertain significance Single submitter
- CYP2C9 p.Lys275Glu Uncertain significance Single submitter
- CYP2C9 p.Lys84Glu Uncertain significance Single submitter
- CYP2C9 p.Met443Val Uncertain significance Single submitter
- CYP2C9 p.Phe263Leu Uncertain significance Single submitter
- CYP2C9 p.Ser460Tyr Uncertain significance Single submitter
- CYP2C9 p.Tyr80Phe Uncertain significance Single submitter
- CYP2C9 p.Val177Met Uncertain significance Single submitter
All CYP2C9 variants
Pathogenic 1
- p.Leu208Val No assertion criteria coumarin resistance ⚠
Benign 3
- p.Ala441= Multiple submitters
- p.Arg125His Multiple submitters ⚠
- p.His251Arg Multiple submitters ⚠
Likely benign 9
- c.1292-4T>G Single submitter
- c.1292-7T>C Single submitter
- c.819+6A>G Single submitter
- p.Arg108Lys Single submitter
- p.Asp143= Single submitter
- p.Ile88= Single submitter
- p.Leu312= Single submitter
- p.Thr130= Single submitter
- p.Val436= Single submitter
Uncertain significance 35
- p.Ala297Val Single submitter ⚠
- p.Ala309Val Single submitter ⚠
- p.Asn259Ser Single submitter ⚠
- p.Asp468His Single submitter ⚠
- p.Asp89Gly Single submitter ⚠
- p.Cys10Tyr Single submitter ⚠
- p.Gln324His Single submitter ⚠
- p.Glu274Gln Single submitter ⚠
- p.Glu300Val Single submitter ⚠
- p.Gly228Glu Single submitter ⚠
- p.Gly46Val Single submitter ⚠
- p.His344Leu Single submitter ⚠
- p.Ile182Met Single submitter ⚠
- p.Ile331Thr Single submitter ⚠
- p.Ile42Asn Single submitter
- p.Leu15Ile Single submitter ⚠
- p.Leu170Met Single submitter ⚠
- p.Leu306Pro Single submitter ⚠
- p.Leu9Phe Single submitter ⚠
- p.Lys275Glu Single submitter ⚠
- p.Lys84Glu Single submitter ⚠
- p.Met345Ile Single submitter ⚠
- p.Met443Val Single submitter ⚠
- p.Phe263Leu Single submitter ⚠
- p.Pro211Ser Single submitter ⚠
- p.Pro35Ser Single submitter ⚠
- p.Ser303Gly Single submitter ⚠
- p.Ser365Ile Single submitter ⚠
- p.Ser460Tyr Single submitter ⚠
- p.Thr348Ile Single submitter
- p.Thr386Asn Single submitter ⚠
- p.Tyr80Phe Single submitter ⚠
- p.Val177Met Single submitter ⚠
- p.Val6Phe Single submitter ⚠
- p.Ser478Thr No assertion criteria ⚠