CYP2C8 — 65 ClinVar variants
All ClinVar germline CYP2C8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
5 Benign · 10 Likely benign · 50 Uncertain significance
Full CYP2C8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYP2C8 p.Asn133Asp Uncertain significance Single submitter
- CYP2C8 p.Asn176Thr Uncertain significance Single submitter
- CYP2C8 p.Gln22His Uncertain significance Single submitter
- CYP2C8 p.Glu203Asp Uncertain significance Single submitter
- CYP2C8 p.Gly62Arg Uncertain significance Single submitter
- CYP2C8 p.Ile123Met Uncertain significance Single submitter
- CYP2C8 p.Ile45Val Uncertain significance Single submitter
- CYP2C8 p.Phe205Cys Uncertain significance Single submitter
- CYP2C8 p.Phe419Leu Uncertain significance Single submitter
- CYP2C8 p.Pro30Thr Uncertain significance Single submitter
- CYP2C8 p.Thr372Ala Uncertain significance Single submitter
- CYP2C8 p.Val215Leu Uncertain significance Single submitter
- CYP2C8 p.Val75Met Uncertain significance Single submitter
- CYP2C8 p.Arg132Trp Uncertain significance No assertion criteria
Predictors split 38
The independent predictors disagree with each other — read with care.
- CYP2C8 p.Ala253Pro Uncertain significance Single submitter
- CYP2C8 p.Arg200Lys Uncertain significance Single submitter
- CYP2C8 p.Asn176Ser Uncertain significance Single submitter
- CYP2C8 p.Asn236Tyr Uncertain significance Single submitter
- CYP2C8 p.Asp328Val Uncertain significance Single submitter
- CYP2C8 p.Asp397Gly Uncertain significance Single submitter
- CYP2C8 p.Asp408Glu Uncertain significance Single submitter
- CYP2C8 p.Gln252Glu Uncertain significance Single submitter
- CYP2C8 p.Gln44Lys Uncertain significance Single submitter
- CYP2C8 p.Gln44Pro Uncertain significance Single submitter
- CYP2C8 p.Glu147Gly Uncertain significance Single submitter
- CYP2C8 p.Gly384Ser Likely benign Single submitter
- CYP2C8 p.Gly410Cys Uncertain significance Single submitter
- CYP2C8 p.Gly439Glu Uncertain significance Single submitter
- CYP2C8 p.His251Gln Uncertain significance Single submitter
- CYP2C8 p.His251Pro Uncertain significance Single submitter
- CYP2C8 p.His329Tyr Uncertain significance Single submitter
- CYP2C8 p.Ile141Thr Uncertain significance Single submitter
- CYP2C8 p.Leu255Val Uncertain significance Single submitter
- CYP2C8 p.Leu306Met Uncertain significance Single submitter
- CYP2C8 p.Leu311Val Uncertain significance Single submitter
- CYP2C8 p.Leu312Ile Uncertain significance Single submitter
- CYP2C8 p.Lys190Arg Uncertain significance Single submitter
- CYP2C8 p.Lys52Arg Uncertain significance Single submitter
- CYP2C8 p.Lys52Gln Uncertain significance Single submitter
- CYP2C8 p.Phe65Tyr Uncertain significance Single submitter
- CYP2C8 p.Pro174Ser Uncertain significance Single submitter
- CYP2C8 p.Pro31Ser Uncertain significance Single submitter
- CYP2C8 p.Pro346Ser Uncertain significance Single submitter
- CYP2C8 p.Ser210Phe Uncertain significance Single submitter
- CYP2C8 p.Ser303Cys Uncertain significance Single submitter
- CYP2C8 p.Ser336Arg Uncertain significance Single submitter
- CYP2C8 p.Thr348Ala Uncertain significance Single submitter
- CYP2C8 p.Thr374Ala Uncertain significance Single submitter
- CYP2C8 p.Thr386Ile Likely benign Single submitter
- CYP2C8 p.Thr450Asn Uncertain significance Single submitter
- CYP2C8 p.Thr469Asn Uncertain significance Single submitter
- CYP2C8 p.Val182Ala Uncertain significance Single submitter
All CYP2C8 variants
Benign 5
- c.168+669A>G Multiple submitters
- p.His353= Multiple submitters
- p.Val181Ile Multiple submitters
- p.Arg139Lys No assertion criteria CYP2C8-related disorder
- p.Lys160= No assertion criteria CYP2C8-related disorder
Likely benign 10
- p.Ala436Val Single submitter
- p.Arg342= Single submitter
- p.Gly384Ser Single submitter ⚠
- p.Leu152= Single submitter
- p.Leu170= Single submitter
- p.Thr386Ile Single submitter ⚠
- p.Val248Ile Single submitter
- c.332-7_332-6dup No assertion criteria CYP2C8-related disorder
- p.Arg132= No assertion criteria CYP2C8-related disorder
- p.Gly365Ser No assertion criteria CYP2C8-related disorder
Uncertain significance 50
- p.Ala253Pro Single submitter ⚠
- p.Arg200Lys Single submitter ⚠
- p.Asn133Asp Single submitter ⚠
- p.Asn176Ser Single submitter ⚠
- p.Asn176Thr Single submitter ⚠
- p.Asn236Tyr Single submitter ⚠
- p.Asp328Val Single submitter ⚠
- p.Asp397Gly Single submitter ⚠
- p.Asp408Glu Single submitter ⚠
- p.Gln22His Single submitter ⚠
- p.Gln252Glu Single submitter ⚠
- p.Gln44Lys Single submitter ⚠
- p.Gln44Pro Single submitter ⚠
- p.Glu147Gly Single submitter ⚠
- p.Glu203Asp Single submitter ⚠
- p.Gly410Cys Single submitter ⚠
- p.Gly439Glu Single submitter ⚠
- p.Gly62Arg Single submitter ⚠
- p.His251Gln Single submitter ⚠
- p.His251Pro Single submitter ⚠
- p.His329Tyr Single submitter ⚠
- p.Ile123Met Single submitter ⚠
- p.Ile141Thr Single submitter ⚠
- p.Ile45Val Single submitter ⚠
- p.Leu255Val Single submitter ⚠
- p.Leu306Met Single submitter ⚠
- p.Leu311Val Single submitter ⚠
- p.Leu312Ile Single submitter ⚠
- p.Lys190Arg Single submitter ⚠
- p.Lys52Arg Single submitter ⚠
- p.Lys52Gln Single submitter ⚠
- p.Phe205Cys Single submitter ⚠
- p.Phe419Leu Single submitter ⚠
- p.Phe65Tyr Single submitter ⚠
- p.Pro174Ser Single submitter ⚠
- p.Pro30Thr Single submitter ⚠
- p.Pro31Ser Single submitter ⚠
- p.Pro346Ser Single submitter ⚠
- p.Ser210Phe Single submitter ⚠
- p.Ser303Cys Single submitter ⚠
- p.Ser336Arg Single submitter ⚠
- p.Thr348Ala Single submitter ⚠
- p.Thr372Ala Single submitter ⚠
- p.Thr374Ala Single submitter ⚠
- p.Thr450Asn Single submitter ⚠
- p.Thr469Asn Single submitter ⚠
- p.Val182Ala Single submitter ⚠
- p.Val215Leu Single submitter ⚠
- p.Val75Met Single submitter ⚠
- p.Arg132Trp No assertion criteria ⚠