CYP1A2 — 53 ClinVar variants
All ClinVar germline CYP1A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
2 Benign · 5 Likely benign · 46 Uncertain significance
Full CYP1A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYP1A2 p.Ala134Val Uncertain significance Single submitter
- CYP1A2 p.Ala154Thr Uncertain significance Single submitter
- CYP1A2 p.Ala202Val Uncertain significance Single submitter
- CYP1A2 p.Arg362Lys Uncertain significance Single submitter
- CYP1A2 p.Asn309Lys Uncertain significance Single submitter
- CYP1A2 p.Asp103Asn Uncertain significance Single submitter
- CYP1A2 p.Cys405Phe Uncertain significance Single submitter
- CYP1A2 p.Gln121His Uncertain significance Single submitter
- CYP1A2 p.Glu162Lys Uncertain significance Single submitter
- CYP1A2 p.Glu211Val Uncertain significance Single submitter
- CYP1A2 p.Glu467Asp Uncertain significance Single submitter
- CYP1A2 p.Glu467Gly Uncertain significance Single submitter
- CYP1A2 p.Gly206Arg Uncertain significance Single submitter
- CYP1A2 p.Gly496Arg Uncertain significance Single submitter
- CYP1A2 p.His290Arg Uncertain significance Single submitter
- CYP1A2 p.Ile468Leu Uncertain significance Single submitter
- CYP1A2 p.Ile94Val Uncertain significance Single submitter
- CYP1A2 p.Lys293Arg Uncertain significance Single submitter
- CYP1A2 p.Met331Ile Uncertain significance Single submitter
- CYP1A2 p.Met68Ile Uncertain significance Single submitter
- CYP1A2 p.Pro387Thr Uncertain significance Single submitter
- CYP1A2 p.Pro418Ser Uncertain significance Single submitter
- CYP1A2 p.Pro8Ser Uncertain significance Single submitter
- CYP1A2 p.Thr385Asn Uncertain significance Single submitter
- CYP1A2 p.Thr93Ile Uncertain significance Single submitter
- CYP1A2 p.Trp466Arg Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- CYP1A2 p.Arg281Trp Likely benign Multiple submitters
- CYP1A2 p.Ala230Pro Uncertain significance Single submitter
- CYP1A2 p.Arg428Leu Uncertain significance Single submitter
- CYP1A2 p.Arg510Leu Uncertain significance Single submitter
- CYP1A2 p.Arg510Trp Uncertain significance Single submitter
- CYP1A2 p.Asp74Asn Uncertain significance Single submitter
- CYP1A2 p.Glu215Lys Uncertain significance Single submitter
- CYP1A2 p.Gly120Val Uncertain significance Single submitter
- CYP1A2 p.Gly299Val Uncertain significance Single submitter
- CYP1A2 p.Ile94Met Uncertain significance Single submitter
- CYP1A2 p.Leu491Val Uncertain significance Single submitter
- CYP1A2 p.Lys342Asn Uncertain significance Single submitter
- CYP1A2 p.Lys442Glu Uncertain significance Single submitter
- CYP1A2 p.Phe260Leu Uncertain significance Single submitter
- CYP1A2 p.Pro183Leu Uncertain significance Single submitter
- CYP1A2 p.Pro363Thr Uncertain significance Single submitter
- CYP1A2 p.Thr390Ala Uncertain significance Single submitter
- CYP1A2 p.Trp48Gly Uncertain significance Single submitter
- CYP1A2 p.Tyr112Cys Uncertain significance Single submitter
- CYP1A2 p.Tyr72Cys Uncertain significance Single submitter
- CYP1A2 p.Val192Met Uncertain significance Single submitter
- CYP1A2 p.Val487Met Benign Single submitter
All CYP1A2 variants
Benign 2
- p.Asn516= Multiple submitters
- p.Val487Met Single submitter ⚠
Likely benign 5
- c.-9-154C>A Multiple submitters
- p.Arg281Trp Multiple submitters ⚠
- p.Asp187Asn Single submitter
- p.Gly102= Single submitter
- p.Pro131= Single submitter
Uncertain significance 46
- p.Ala134Val Single submitter ⚠
- p.Ala154Thr Single submitter ⚠
- p.Ala202Val Single submitter ⚠
- p.Ala230Pro Single submitter ⚠
- p.Arg362Lys Single submitter ⚠
- p.Arg428Leu Single submitter ⚠
- p.Arg510Leu Single submitter ⚠
- p.Arg510Trp Single submitter ⚠
- p.Asn309Lys Single submitter ⚠
- p.Asp103Asn Single submitter ⚠
- p.Asp74Asn Single submitter ⚠
- p.Cys405Phe Single submitter ⚠
- p.Gln121His Single submitter ⚠
- p.Glu162Lys Single submitter ⚠
- p.Glu211Val Single submitter ⚠
- p.Glu215Lys Single submitter ⚠
- p.Glu467Asp Single submitter ⚠
- p.Glu467Gly Single submitter ⚠
- p.Gly120Val Single submitter ⚠
- p.Gly206Arg Single submitter ⚠
- p.Gly299Val Single submitter ⚠
- p.Gly496Arg Single submitter ⚠
- p.His290Arg Single submitter ⚠
- p.Ile468Leu Single submitter ⚠
- p.Ile94Met Single submitter ⚠
- p.Ile94Val Single submitter ⚠
- p.Leu491Val Single submitter ⚠
- p.Lys293Arg Single submitter ⚠
- p.Lys342Asn Single submitter ⚠
- p.Lys442Glu Single submitter ⚠
- p.Met331Ile Single submitter ⚠
- p.Met68Ile Single submitter ⚠
- p.Phe260Leu Single submitter ⚠
- p.Pro183Leu Single submitter ⚠
- p.Pro363Thr Single submitter ⚠
- p.Pro387Thr Single submitter ⚠
- p.Pro418Ser Single submitter ⚠
- p.Pro8Ser Single submitter ⚠
- p.Thr385Asn Single submitter ⚠
- p.Thr390Ala Single submitter ⚠
- p.Thr93Ile Single submitter ⚠
- p.Trp466Arg Single submitter ⚠
- p.Trp48Gly Single submitter ⚠
- p.Tyr112Cys Single submitter ⚠
- p.Tyr72Cys Single submitter ⚠
- p.Val192Met Single submitter ⚠