CYP2C19 — 47 ClinVar variants
All ClinVar germline CYP2C19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →
4 Benign · 3 Likely benign · 40 Uncertain significance
Full CYP2C19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 40
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYP2C19 p.Asp243Val Uncertain significance Single submitter
- CYP2C19 p.Asp408Asn Uncertain significance Single submitter
- CYP2C19 p.Cys13Ser Uncertain significance Single submitter
- CYP2C19 p.Gln356Pro Uncertain significance Single submitter
- CYP2C19 p.Glu199Lys Uncertain significance Single submitter
- CYP2C19 p.Gly135Val Uncertain significance Single submitter
- CYP2C19 p.Gly416Asp Uncertain significance Single submitter
- CYP2C19 p.His396Gln Uncertain significance Single submitter
- CYP2C19 p.Ile112Thr Uncertain significance Single submitter
- CYP2C19 p.Ile205Ser Uncertain significance Single submitter
- CYP2C19 p.Ile222Val Uncertain significance Single submitter
- CYP2C19 p.Ile462Met Uncertain significance Single submitter
- CYP2C19 p.Leu131Pro Uncertain significance Single submitter
- CYP2C19 p.Leu57Pro Uncertain significance Single submitter
- CYP2C19 p.Leu87Gln Uncertain significance Single submitter
- CYP2C19 p.Pro427Ser Uncertain significance Single submitter
- CYP2C19 p.Thr290Ser Uncertain significance Single submitter
- CYP2C19 p.Thr304Pro Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- CYP2C19 p.Arg144Ser Uncertain significance Single submitter
- CYP2C19 p.Asn133Lys Uncertain significance Single submitter
- CYP2C19 p.Asn418Asp Uncertain significance Single submitter
- CYP2C19 p.Asp414His Uncertain significance Single submitter
- CYP2C19 p.Asp46Gly Uncertain significance Single submitter
- CYP2C19 p.Asp49Val Uncertain significance Single submitter
- CYP2C19 p.Cys164Phe Uncertain significance Single submitter
- CYP2C19 p.Gln146Glu Uncertain significance Single submitter
- CYP2C19 p.Gln146His Uncertain significance Single submitter
- CYP2C19 p.Glu328Ala Uncertain significance Single submitter
- CYP2C19 p.Ile215Thr Uncertain significance Single submitter
- CYP2C19 p.Ile362Thr Uncertain significance Single submitter
- CYP2C19 p.Leu361Arg Uncertain significance Single submitter
- CYP2C19 p.Lys465Glu Uncertain significance Single submitter
- CYP2C19 p.Ser365Thr Uncertain significance Single submitter
- CYP2C19 p.Ser390Phe Uncertain significance Single submitter
- CYP2C19 p.Thr320Ile Uncertain significance Single submitter
- CYP2C19 p.Thr469Lys Uncertain significance Single submitter
- CYP2C19 p.Thr470Ile Uncertain significance Single submitter
- CYP2C19 p.Tyr61Cys Uncertain significance Single submitter
- CYP2C19 p.Val319Ile Uncertain significance Single submitter
- CYP2C19 p.Val82Met Uncertain significance Single submitter
All CYP2C19 variants
Benign 4
- p.Gly417= Multiple submitters
- p.His353= Single submitter
- p.Ile331Val Single submitter
- p.Pro33= Single submitter
Likely benign 3
- p.Leu391= Single submitter
- p.Ser23Arg Single submitter
- p.Val50Ile Single submitter
Uncertain significance 40
- p.Arg144Ser Single submitter ⚠
- p.Asn133Lys Single submitter ⚠
- p.Asn418Asp Single submitter ⚠
- p.Asp243Val Single submitter ⚠
- p.Asp408Asn Single submitter ⚠
- p.Asp414His Single submitter ⚠
- p.Asp46Gly Single submitter ⚠
- p.Asp49Val Single submitter ⚠
- p.Cys13Ser Single submitter ⚠
- p.Cys164Phe Single submitter ⚠
- p.Gln146Glu Single submitter ⚠
- p.Gln146His Single submitter ⚠
- p.Gln356Pro Single submitter ⚠
- p.Glu199Lys Single submitter ⚠
- p.Glu328Ala Single submitter ⚠
- p.Gly135Val Single submitter ⚠
- p.Gly416Asp Single submitter ⚠
- p.His396Gln Single submitter ⚠
- p.Ile112Thr Single submitter ⚠
- p.Ile205Ser Single submitter ⚠
- p.Ile215Thr Single submitter ⚠
- p.Ile222Val Single submitter ⚠
- p.Ile362Thr Single submitter ⚠
- p.Ile462Met Single submitter ⚠
- p.Leu131Pro Single submitter ⚠
- p.Leu361Arg Single submitter ⚠
- p.Leu57Pro Single submitter ⚠
- p.Leu87Gln Single submitter ⚠
- p.Lys465Glu Single submitter ⚠
- p.Pro427Ser Single submitter ⚠
- p.Ser365Thr Single submitter ⚠
- p.Ser390Phe Single submitter ⚠
- p.Thr290Ser Single submitter ⚠
- p.Thr304Pro Single submitter ⚠
- p.Thr320Ile Single submitter ⚠
- p.Thr469Lys Single submitter ⚠
- p.Thr470Ile Single submitter ⚠
- p.Tyr61Cys Single submitter ⚠
- p.Val319Ile Single submitter ⚠
- p.Val82Met Single submitter ⚠