CYP2A7 — 127 ClinVar variants

All ClinVar germline CYP2A7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →

8 Benign · 10 Likely benign · 109 Uncertain significance

Full CYP2A7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 102

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 67

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

Predictors split 35

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

All CYP2A7 variants

Benign 8

p.Ala133Pro Multiple submitters
p.Ala3= Multiple submitters
p.Arg372His Multiple submitters
p.Asn438Tyr Multiple submitters
p.Gln265Arg Multiple submitters
p.Ser153Ala Multiple submitters
p.Ser397= Multiple submitters
p.Val479Gly Multiple submitters

Likely benign 10

p.Arg30Lys Single submitter
p.Arg346Trp Single submitter ⚠
p.Asp419Glu Single submitter
p.Gln25Arg Single submitter
p.Ile160Leu Single submitter
p.Ile71Val Single submitter
p.Met292Val Single submitter
p.Phe453Leu Single submitter
p.Val398Met Single submitter ⚠
p.Val456Ile Single submitter

Uncertain significance 109

p.Ala10Thr Single submitter ⚠
p.Ala13Asp Single submitter
p.Ala13Val Single submitter ⚠
p.Ala3Thr Single submitter ⚠
p.Arg148His Single submitter ⚠
p.Arg176His Single submitter ⚠
p.Arg257His Single submitter ⚠
p.Arg339Gln Single submitter ⚠
p.Arg339Pro Single submitter ⚠
p.Arg339Trp Single submitter ⚠
p.Arg494Cys Single submitter ⚠
p.Arg76Gln Single submitter ⚠
p.Arg76Trp Single submitter ⚠
p.Asn255Lys Single submitter ⚠
p.Asn407Ser Single submitter ⚠
p.Asp266His Single submitter ⚠
p.Asp269Glu Single submitter ⚠
p.Asp364His Single submitter ⚠
p.Asp418Asn Single submitter ⚠
p.Asp418Gly Single submitter ⚠
p.Asp472Glu Single submitter ⚠
p.Cys14Ser Single submitter ⚠
p.Gln126Leu Single submitter ⚠
p.Gln210His Single submitter ⚠
p.Gln26His Single submitter ⚠
p.Gln276Lys Single submitter ⚠
p.Gln94Lys Single submitter ⚠
p.Glu103Lys Single submitter ⚠
p.Glu146Asp Single submitter ⚠
p.Glu146Lys Single submitter
p.Glu158Asp Single submitter ⚠
p.Glu158Gln Single submitter ⚠
p.Glu304Lys Single submitter ⚠
p.Glu63Asp Single submitter ⚠
p.Gly100Arg Single submitter ⚠
p.Gly121Arg Single submitter ⚠
p.Gly207Val Single submitter ⚠
p.Gly243Arg Single submitter ⚠
p.Gly243Trp Single submitter ⚠
p.Gly336Ser Single submitter ⚠
p.Gly441Arg Single submitter ⚠
p.Gly44Glu Single submitter ⚠
p.His254Arg Single submitter ⚠
p.His274Tyr Single submitter ⚠
p.His357Gln Single submitter
p.His84Arg Single submitter ⚠
p.Ile132Ser Single submitter ⚠
p.Ile366Phe Single submitter ⚠
p.Ile471Asn Single submitter ⚠
p.Ile71Thr Single submitter ⚠
p.Leu11Ser Single submitter ⚠
p.Leu135Met Single submitter ⚠
p.Leu135Pro Single submitter ⚠
p.Leu206Pro Single submitter ⚠
p.Leu219Ile Single submitter ⚠
p.Leu241Arg Single submitter ⚠
p.Leu298Val Single submitter ⚠
p.Leu2Gln Single submitter ⚠
p.Leu444Met Single submitter ⚠
p.Leu6Met Single submitter ⚠
p.Lys379Met Single submitter ⚠
p.Lys424Arg Single submitter ⚠
p.Met21Ile Single submitter ⚠
p.Met292Thr Single submitter ⚠
p.Met489Arg Single submitter ⚠
p.Met489Lys Single submitter ⚠
p.Met489Val Single submitter ⚠
p.Phe138Leu Single submitter ⚠
p.Phe138Tyr Single submitter ⚠
p.Phe198Cys Single submitter
p.Phe343Cys Single submitter ⚠
p.Phe362Leu Single submitter ⚠
p.Phe362Ser Single submitter
p.Phe411Tyr Single submitter
p.Phe440Leu Single submitter ⚠
p.Phe452Tyr Single submitter ⚠
p.Phe491Cys Single submitter ⚠
p.Phe491Leu Single submitter ⚠
p.Phe69Ser Single submitter ⚠
p.Pro233Gln Single submitter ⚠
p.Pro350Ser Single submitter
p.Pro35Leu Single submitter ⚠
p.Pro386Leu Single submitter ⚠
p.Pro41Leu Single submitter ⚠
p.Pro75Ser Single submitter ⚠
p.Ser119Arg Single submitter ⚠
p.Ser162Arg Single submitter ⚠
p.Ser183Ile Single submitter ⚠
p.Ser369Thr Single submitter ⚠
p.Ser433Thr Single submitter
p.Ser474Pro Single submitter ⚠
p.Ser99Gly Single submitter ⚠
p.Thr134Ile Single submitter ⚠
p.Thr163Pro Single submitter ⚠
p.Thr171Ser Single submitter ⚠
p.Thr212Met Single submitter ⚠
p.Thr216Ala Single submitter ⚠
p.Thr216Arg Single submitter ⚠
p.Thr258Met Single submitter ⚠
p.Thr295Met Single submitter ⚠
p.Thr308Ala Single submitter ⚠
p.Thr347Ile Single submitter ⚠
p.Thr347Ser Single submitter ⚠
p.Val116Met Single submitter ⚠
p.Val140Glu Single submitter ⚠
p.Val140Met Single submitter ⚠
p.Val181Leu Single submitter ⚠
p.Val186Phe Single submitter
p.Val80Met Single submitter ⚠