CYP2A6 — 83 ClinVar variants
All ClinVar germline CYP2A6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
5 Benign · 17 Likely benign · 61 Uncertain significance
Full CYP2A6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYP2A6 p.Ala159Val Uncertain significance Single submitter
- CYP2A6 p.Ala237Thr Uncertain significance Single submitter
- CYP2A6 p.Ala86Val Uncertain significance Single submitter
- CYP2A6 p.Arg123His Uncertain significance Single submitter
- CYP2A6 p.Arg76Gln Uncertain significance Single submitter
- CYP2A6 p.Arg77Leu Uncertain significance Single submitter
- CYP2A6 p.Asn281Lys Uncertain significance Single submitter
- CYP2A6 p.Asn50Ser Uncertain significance Single submitter
- CYP2A6 p.Asp158Asn Uncertain significance Single submitter
- CYP2A6 p.Asp382Glu Uncertain significance Single submitter
- CYP2A6 p.Asp93Asn Uncertain significance Single submitter
- CYP2A6 p.Gln150Arg Uncertain significance Single submitter
- CYP2A6 p.Gln235Lys Uncertain significance Single submitter
- CYP2A6 p.Gln414Arg Uncertain significance Single submitter
- CYP2A6 p.Gln94Lys Uncertain significance Single submitter
- CYP2A6 p.Glu146Lys Uncertain significance Single submitter
- CYP2A6 p.Glu147Asp Uncertain significance Single submitter
- CYP2A6 p.Glu152Gly Uncertain significance Single submitter
- CYP2A6 p.Glu358Lys Uncertain significance Single submitter
- CYP2A6 p.Gly243Arg Uncertain significance Single submitter
- CYP2A6 p.Gly301Glu Uncertain significance Single submitter
- CYP2A6 p.Ile300Thr Uncertain significance Single submitter
- CYP2A6 p.Ile43Leu Uncertain significance Single submitter
- CYP2A6 p.Leu7Phe Uncertain significance Single submitter
- CYP2A6 p.Lys196Asn Uncertain significance Single submitter
- CYP2A6 p.Met18Thr Uncertain significance Single submitter
- CYP2A6 p.Met293Thr Uncertain significance Single submitter
- CYP2A6 p.Met394Val Uncertain significance Single submitter
- CYP2A6 p.Met489Thr Uncertain significance Single submitter
- CYP2A6 p.Phe155Cys Uncertain significance Single submitter
- CYP2A6 p.Phe198Cys Uncertain significance Single submitter
- CYP2A6 p.Phe209Cys Uncertain significance Single submitter
- CYP2A6 p.Phe286Ile Uncertain significance Single submitter
- CYP2A6 p.Phe411Val Uncertain significance Single submitter
- CYP2A6 p.Phe69Ser Uncertain significance Single submitter
- CYP2A6 p.Ser426Gly Uncertain significance Single submitter
- CYP2A6 p.Thr212Met Uncertain significance Single submitter
- CYP2A6 p.Tyr114Asn Uncertain significance Single submitter
- CYP2A6 p.Val68Ala Uncertain significance Single submitter
- CYP2A6 p.Val78Ile Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- CYP2A6 p.Ala159Pro Uncertain significance Single submitter
- CYP2A6 p.Arg274Cys Uncertain significance Single submitter
- CYP2A6 p.Arg461Pro Uncertain significance Single submitter
- CYP2A6 p.Arg76Trp Uncertain significance Single submitter
- CYP2A6 p.Arg88Ser Uncertain significance Single submitter
- CYP2A6 p.Asn180Ser Uncertain significance Single submitter
- CYP2A6 p.Asp158Tyr Uncertain significance Single submitter
- CYP2A6 p.Gln276Pro Uncertain significance Single submitter
- CYP2A6 p.Glu97Val Uncertain significance Single submitter
- CYP2A6 p.Gly188Glu Uncertain significance Single submitter
- CYP2A6 p.Gly336Ser Uncertain significance Single submitter
- CYP2A6 p.Leu462Phe Likely benign Single submitter
- CYP2A6 p.Lys251Asn Uncertain significance Single submitter
- CYP2A6 p.Met447Ile Uncertain significance Single submitter
- CYP2A6 p.Phe138Leu Uncertain significance Single submitter
- CYP2A6 p.Pro37Leu Uncertain significance Single submitter
- CYP2A6 p.Ser474Pro Uncertain significance Single submitter
- CYP2A6 p.Thr258Met Uncertain significance Single submitter
- CYP2A6 p.Val79Met Uncertain significance Single submitter
All CYP2A6 variants
Benign 5
- p.Asn418Asp Multiple submitters
- p.Met6Leu Multiple submitters
- p.Lys196fs Single submitter
- p.Phe480= Single submitter
- p.Pro413= Single submitter
Likely benign 17
- p.Arg190Leu Multiple submitters
- p.Leu73= Multiple submitters
- c.1303+17T>C Single submitter
- c.181-11A>G Single submitter
- c.494-9T>C Single submitter
- c.654+18G>A Single submitter
- p.Arg136= Single submitter
- p.Arg64Cys Single submitter
- p.Gln104= Single submitter
- p.Glu279= Single submitter
- p.His320= Single submitter
- p.Leu462Phe Single submitter ⚠
- p.Lys289= Single submitter
- p.Phe450= Single submitter
- p.Phe453Leu Single submitter
- p.Ser403= Single submitter
- p.Val327Ile Single submitter
Uncertain significance 61
- p.Ala159Pro Single submitter ⚠
- p.Ala159Val Single submitter ⚠
- p.Ala237Thr Single submitter ⚠
- p.Ala86Val Single submitter ⚠
- p.Arg123His Single submitter ⚠
- p.Arg265Gly Single submitter
- p.Arg274Cys Single submitter ⚠
- p.Arg461Pro Single submitter ⚠
- p.Arg76Gln Single submitter ⚠
- p.Arg76Trp Single submitter ⚠
- p.Arg77Leu Single submitter ⚠
- p.Arg88Ser Single submitter ⚠
- p.Asn180Ser Single submitter ⚠
- p.Asn281Lys Single submitter ⚠
- p.Asn50Ser Single submitter ⚠
- p.Asp158Asn Single submitter ⚠
- p.Asp158Tyr Single submitter ⚠
- p.Asp382Glu Single submitter ⚠
- p.Asp93Asn Single submitter ⚠
- p.Gln150Arg Single submitter ⚠
- p.Gln235Lys Single submitter ⚠
- p.Gln276Pro Single submitter ⚠
- p.Gln414Arg Single submitter ⚠
- p.Gln94Lys Single submitter ⚠
- p.Glu146Lys Single submitter ⚠
- p.Glu147Asp Single submitter ⚠
- p.Glu152Gly Single submitter ⚠
- p.Glu358Lys Single submitter ⚠
- p.Glu97Val Single submitter ⚠
- p.Gly188Glu Single submitter ⚠
- p.Gly243Arg Single submitter ⚠
- p.Gly301Glu Single submitter ⚠
- p.Gly336Ser Single submitter ⚠
- p.Ile185Thr Single submitter
- p.Ile300Thr Single submitter ⚠
- p.Ile43Leu Single submitter ⚠
- p.Leu7Phe Single submitter ⚠
- p.Lys196Asn Single submitter ⚠
- p.Lys251Asn Single submitter ⚠
- p.Met18Thr Single submitter ⚠
- p.Met293Thr Single submitter ⚠
- p.Met394Val Single submitter ⚠
- p.Met447Ile Single submitter ⚠
- p.Met489Thr Single submitter ⚠
- p.Phe138Leu Single submitter ⚠
- p.Phe155Cys Single submitter ⚠
- p.Phe198Cys Single submitter ⚠
- p.Phe209Cys Single submitter ⚠
- p.Phe286Ile Single submitter ⚠
- p.Phe411Val Single submitter ⚠
- p.Phe69Ser Single submitter ⚠
- p.Pro37Leu Single submitter ⚠
- p.Ser426Gly Single submitter ⚠
- p.Ser474Pro Single submitter ⚠
- p.Thr212Met Single submitter ⚠
- p.Thr258Met Single submitter ⚠
- p.Tyr114Asn Single submitter ⚠
- p.Val398Met Single submitter
- p.Val68Ala Single submitter ⚠
- p.Val78Ile Single submitter ⚠
- p.Val79Met Single submitter ⚠