CYP2D6 — 82 ClinVar variants

All ClinVar germline CYP2D6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →

1 Benign · 3 Benign/Likely benign · 23 Likely benign · 55 Uncertain significance

Full CYP2D6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 53

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 36

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

Predictors split 17

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

All CYP2D6 variants

Benign 1

p.Arg296Cys Multiple submitters ⚠

Benign/Likely benign 3

p.Ala237Ser Multiple submitters
p.Arg296= Multiple submitters
p.Ser486= Multiple submitters

Likely benign 23

p.Asn166Asp Multiple submitters
p.Asp336= Multiple submitters
p.Val11Met Multiple submitters
c.181-1G>C Single submitter
c.352+16G>A Single submitter
p.Arg380His Single submitter ⚠
p.Asp337Asn Single submitter
p.Gln151Glu Single submitter
p.Glu211fs Single submitter
p.Gly2= Single submitter
p.His324= Single submitter
p.His361= Single submitter
p.Ile186= Single submitter
p.Leu236= Single submitter
p.Leu255Ile Single submitter
p.Leu444= Single submitter
p.Leu47fs Single submitter
p.Phe120= Single submitter
p.Pro325= Single submitter
p.Ser168Ala Single submitter
p.Ser401= Single submitter
p.Tyr355Cys Single submitter
p.Val7Met Single submitter

Uncertain significance 55

p.Ala442Thr Single submitter ⚠
p.Arg242Cys Single submitter ⚠
p.Arg242His Single submitter ⚠
p.Arg26Cys Single submitter ⚠
p.Arg296His Single submitter ⚠
p.Arg32Cys Single submitter ⚠
p.Arg330His Single submitter congenital portosystemic shunt ⚠
p.Arg414His Single submitter ⚠
p.Asn184His Single submitter ⚠
p.Asn225Thr Single submitter ⚠
p.Asn285Tyr Single submitter ⚠
p.Asn294Lys Single submitter ⚠
p.Asn82Thr Single submitter ⚠
p.Asp263Ala Single submitter ⚠
p.Asp326Asn Single submitter ⚠
p.Gln108Arg Single submitter ⚠
p.Gln462His Single submitter ⚠
p.Glu156Asp Single submitter ⚠
p.Glu280Gly Single submitter ⚠
p.Glu491Lys Single submitter ⚠
p.His24Arg Single submitter ⚠
p.His352Leu Single submitter ⚠
p.His416Gln Single submitter CYP2D6-related condition ⚠
p.His416Tyr Single submitter ⚠
p.Ile382Val Single submitter ⚠
p.Leu149Met Single submitter ⚠
p.Leu230Phe Single submitter ⚠
p.Leu320Phe Single submitter ⚠
p.Leu40Gln Single submitter ⚠
p.Leu421Val Single submitter ⚠
p.Lys214Gln Single submitter ⚠
p.Met347Ile Single submitter ⚠
p.Phe387Cys Single submitter
p.Phe51Leu Single submitter ⚠
p.Phe69Leu Single submitter ⚠
p.Pro102Leu Single submitter ⚠
p.Pro105His Single submitter ⚠
p.Pro105Leu Single submitter ⚠
p.Pro126Thr Single submitter ⚠
p.Pro200Ala Single submitter ⚠
p.Pro200Ser Single submitter ⚠
p.Pro268Arg Single submitter ⚠
p.Pro268Thr Single submitter ⚠
p.Pro371Leu Single submitter ⚠
p.Pro39Leu Single submitter ⚠
p.Pro430Ser Single submitter ⚠
p.Ser288Asn Single submitter ⚠
p.Ser304Pro Single submitter
p.Thr310Asn Single submitter ⚠
p.Thr357Ala Single submitter ⚠
p.Val223Leu Single submitter ⚠
p.Val227Leu Single submitter ⚠
p.Val298Gly Single submitter
p.Val359Met Single submitter
p.Val49Met Single submitter ⚠