CYP2A13 — 89 ClinVar variants

All ClinVar germline CYP2A13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 77 flagged for review →

5 Likely benign · 84 Uncertain significance

Full CYP2A13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 77

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 52

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 25

The independent predictors disagree with each other — read with care.

All CYP2A13 variants

Likely benign 5

p.Glu322Asp Single submitter
p.His164Arg Single submitter
p.Leu230= Single submitter
p.Leu370Val Single submitter
p.Lys419Glu Single submitter

Uncertain significance 84

p.Phe362Ser Multiple submitters
p.Ala105Ser Single submitter ⚠
p.Ala133Val Single submitter ⚠
p.Ala159Val Single submitter ⚠
p.Ala354Gly Single submitter ⚠
p.Ala481Gly Single submitter ⚠
p.Arg136Lys Single submitter ⚠
p.Arg148His Single submitter ⚠
p.Arg176Ser Single submitter ⚠
p.Arg265Gln Single submitter ⚠
p.Arg274His Single submitter ⚠
p.Arg311Cys Single submitter
p.Arg311Gly Single submitter ⚠
p.Arg339Gln Single submitter ⚠
p.Arg381Gln Single submitter ⚠
p.Arg403Ser Single submitter ⚠
p.Arg409Trp Single submitter ⚠
p.Arg461His Single submitter ⚠
p.Arg64Ser Single submitter ⚠
p.Arg76Gln Single submitter ⚠
p.Arg76Trp Single submitter
p.Asn167His Single submitter ⚠
p.Asn180Ser Single submitter ⚠
p.Asn262Thr Single submitter ⚠
p.Asp195Gly Single submitter ⚠
p.Asp260Ala Single submitter ⚠
p.Asp269Gly Single submitter ⚠
p.Cys439Tyr Single submitter ⚠
p.Glu245Lys Single submitter ⚠
p.Glu448Asp Single submitter ⚠
p.Glu448Lys Single submitter ⚠
p.Glu97Asp Single submitter ⚠
p.Gly100Arg Single submitter ⚠
p.Gly102Asp Single submitter ⚠
p.Gly121Arg Single submitter ⚠
p.Gly141Asp Single submitter ⚠
p.Gly141Ser Single submitter ⚠
p.Gly144Asp Single submitter
p.Gly154Asp Single submitter ⚠
p.Gly162Cys Single submitter ⚠
p.Gly217Arg Single submitter ⚠
p.Gly217Val Single submitter ⚠
p.Gly243Arg Single submitter ⚠
p.Gly313Ser Single submitter ⚠
p.Gly31Glu Single submitter ⚠
p.Gly336Ser Single submitter ⚠
p.Gly441Ala Single submitter ⚠
p.Gly83Arg Single submitter ⚠
p.Ile132Val Single submitter ⚠
p.Ile149Phe Single submitter ⚠
p.Ile248Val Single submitter ⚠
p.Ile273Asn Single submitter ⚠
p.Leu310Pro Single submitter ⚠
p.Leu316Pro Single submitter ⚠
p.Leu58Phe Single submitter ⚠
p.Lys142Arg Single submitter ⚠
p.Lys32Arg Single submitter ⚠
p.Lys420Asn Single submitter ⚠
p.Met394Ile Single submitter ⚠
p.Met59Thr Single submitter ⚠
p.Phe130Ile Single submitter ⚠
p.Phe187Leu Single submitter ⚠
p.Phe452Val Single submitter ⚠
p.Phe460Cys Single submitter ⚠
p.Pro350Thr Single submitter ⚠
p.Pro402Leu Single submitter ⚠
p.Pro408Leu Single submitter ⚠
p.Pro431Ser Single submitter ⚠
p.Pro475Leu Single submitter ⚠
p.Ser225Leu Single submitter ⚠
p.Thr16Ser Single submitter ⚠
p.Thr214Ala Single submitter ⚠
p.Thr214Pro Single submitter ⚠
p.Thr216Ala Single submitter ⚠
p.Thr303Pro Single submitter ⚠
p.Thr309Ser Single submitter ⚠
p.Thr389Ile Single submitter
p.Thr455Ile Single submitter ⚠
p.Thr70Ala Single submitter ⚠
p.Tyr220His Single submitter
p.Tyr351His Single submitter ⚠
p.Val116Leu Single submitter ⚠
p.Val306Met Single submitter ⚠
p.Val334Leu Single submitter