CYP2B6 — 95 ClinVar variants
All ClinVar germline CYP2B6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 77 flagged for review →
3 Benign · 18 Likely benign · 74 Uncertain significance
Full CYP2B6 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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYP2B6 p.Ala102Ser Uncertain significance Single submitter
- CYP2B6 p.Ala243Ser Uncertain significance Single submitter
- CYP2B6 p.Ala260Thr Uncertain significance Single submitter
- CYP2B6 p.Arg336Pro Uncertain significance Single submitter
- CYP2B6 p.Arg343Pro Uncertain significance Single submitter
- CYP2B6 p.Arg98Gln Uncertain significance Single submitter
- CYP2B6 p.Asn242His Uncertain significance Single submitter
- CYP2B6 p.Asn417Lys Uncertain significance Single submitter
- CYP2B6 p.Asn417Ser Uncertain significance Single submitter
- CYP2B6 p.Asn42Ile Uncertain significance Single submitter
- CYP2B6 p.Asp263Glu Uncertain significance Single submitter
- CYP2B6 p.Asp266Asn Uncertain significance Single submitter
- CYP2B6 p.Asp266Val Uncertain significance Single submitter
- CYP2B6 p.Asp361Asn Uncertain significance Single submitter
- CYP2B6 p.Gln191Glu Uncertain significance Single submitter
- CYP2B6 p.Glu144Gln Uncertain significance Single submitter
- CYP2B6 p.Glu149Lys Uncertain significance Single submitter
- CYP2B6 p.Glu250Lys Uncertain significance Single submitter
- CYP2B6 p.Gly14Glu Uncertain significance Single submitter
- CYP2B6 p.Gly418Trp Uncertain significance Single submitter
- CYP2B6 p.His27Gln Uncertain significance Single submitter
- CYP2B6 p.His27Leu Uncertain significance Single submitter
- CYP2B6 p.His341Arg Uncertain significance Single submitter
- CYP2B6 p.Ile154Thr Uncertain significance Single submitter
- CYP2B6 p.Ile245Val Uncertain significance Single submitter
- CYP2B6 p.Ile441Thr Uncertain significance Single submitter
- CYP2B6 p.Leu293Phe Uncertain significance Single submitter
- CYP2B6 p.Leu40Ser Uncertain significance Single submitter
- CYP2B6 p.Lys161Asn Uncertain significance Single submitter
- CYP2B6 p.Lys61Ile Uncertain significance Single submitter
- CYP2B6 p.Lys61Thr Uncertain significance Single submitter
- CYP2B6 p.Met103Thr Uncertain significance Single submitter
- CYP2B6 p.Ser128Phe Uncertain significance Single submitter
- CYP2B6 p.Ser181Pro Uncertain significance Single submitter
- CYP2B6 p.Val212Ala Uncertain significance Single submitter
Predictors split 42
The independent predictors disagree with each other — read with care.
- CYP2B6 p.Arg140Gln Likely benign Single submitter
- CYP2B6 p.Arg158Trp Uncertain significance Single submitter
- CYP2B6 p.Arg336His Uncertain significance Single submitter
- CYP2B6 p.Arg378Gln Uncertain significance Single submitter
- CYP2B6 p.Arg491His Uncertain significance Single submitter
- CYP2B6 p.Asp105His Uncertain significance Single submitter
- CYP2B6 p.Asp192Glu Uncertain significance Single submitter
- CYP2B6 p.Asp257Tyr Uncertain significance Single submitter
- CYP2B6 p.Asp406Asn Uncertain significance Single submitter
- CYP2B6 p.Asp47Asn Uncertain significance Single submitter
- CYP2B6 p.Glu329Lys Uncertain significance Single submitter
- CYP2B6 p.Glu387Lys Uncertain significance Single submitter
- CYP2B6 p.Gly333Ser Uncertain significance Single submitter
- CYP2B6 p.Gly440Val Uncertain significance Single submitter
- CYP2B6 p.His231Arg Uncertain significance Single submitter
- CYP2B6 p.His231Gln Uncertain significance Single submitter
- CYP2B6 p.Leu12Ile Uncertain significance Single submitter
- CYP2B6 p.Leu164Phe Uncertain significance Single submitter
- CYP2B6 p.Leu269Val Uncertain significance Single submitter
- CYP2B6 p.Leu307Val Uncertain significance Single submitter
- CYP2B6 p.Leu30Phe Uncertain significance Single submitter
- CYP2B6 p.Leu362Phe Uncertain significance Single submitter
- CYP2B6 p.Leu44Val Uncertain significance Single submitter
- CYP2B6 p.Leu52Pro Uncertain significance Single submitter
- CYP2B6 p.Leu7Pro Uncertain significance Single submitter
- CYP2B6 p.Leu9Ile Uncertain significance Single submitter
- CYP2B6 p.Lys139Glu Likely benign Single submitter
- CYP2B6 p.Lys161Thr Uncertain significance Single submitter
- CYP2B6 p.Lys225Asn Uncertain significance Single submitter
- CYP2B6 p.Met132Val Uncertain significance Single submitter
- CYP2B6 p.Pro383Arg Uncertain significance Single submitter
- CYP2B6 p.Pro472Ser Uncertain significance Single submitter
- CYP2B6 p.Ser141Asn Uncertain significance Single submitter
- CYP2B6 p.Ser207Pro Uncertain significance Single submitter
- CYP2B6 p.Ser259Arg Likely benign Single submitter
- CYP2B6 p.Ser294Leu Uncertain significance Single submitter
- CYP2B6 p.Thr175Ala Uncertain significance Single submitter
- CYP2B6 p.Thr267Asn Uncertain significance Single submitter
- CYP2B6 p.Tyr111Cys Uncertain significance Single submitter
- CYP2B6 p.Tyr348Cys Uncertain significance Single submitter
-
CYP2B6 p.Val65Ile
Uncertain significance
Single submitter
CYP2B6-related disorder
- CYP2B6 p.Val68Ile Uncertain significance Single submitter
All CYP2B6 variants
Benign 3
- p.Lys262Arg Multiple submitters efavirenz central nervous system toxicity, susceptibility to
- p.Arg29fs Single submitter
- p.Asp28fs Single submitter
Likely benign 18
- c.1153-6C>T Single submitter
- p.Arg140Gln Single submitter ⚠
- p.Asp385Gly Single submitter
- p.Asp406= Single submitter
- p.His400Arg Single submitter
- p.Lys139Glu Single submitter ⚠
- p.Ser259Arg Single submitter ⚠
- c.1152+9G>A No assertion criteria CYP2B6-related disorder
- p.Gln21Leu No assertion criteria CYP2B6-related disorder
- p.Glu445= No assertion criteria CYP2B6-related disorder
- p.Ile241= No assertion criteria CYP2B6-related disorder
- p.Ile265= No assertion criteria CYP2B6-related disorder
- p.Ile441= No assertion criteria CYP2B6-related disorder
- p.Leu16= No assertion criteria CYP2B6-related disorder
- p.Leu18= No assertion criteria CYP2B6-related disorder
- p.Leu238= No assertion criteria CYP2B6-related disorder
- p.Pro462= No assertion criteria CYP2B6-related disorder
- p.Ser259= No assertion criteria CYP2B6-related disorder
Uncertain significance 74
- p.Ala102Ser Single submitter ⚠
- p.Ala243Ser Single submitter ⚠
- p.Ala260Thr Single submitter ⚠
- p.Arg158Trp Single submitter ⚠
- p.Arg336His Single submitter ⚠
- p.Arg336Pro Single submitter ⚠
- p.Arg343Pro Single submitter ⚠
- p.Arg378Gln Single submitter ⚠
- p.Arg491His Single submitter ⚠
- p.Arg98Gln Single submitter ⚠
- p.Asn242His Single submitter ⚠
- p.Asn417Lys Single submitter ⚠
- p.Asn417Ser Single submitter ⚠
- p.Asn42Ile Single submitter ⚠
- p.Asp105His Single submitter ⚠
- p.Asp192Glu Single submitter ⚠
- p.Asp257Tyr Single submitter ⚠
- p.Asp263Glu Single submitter ⚠
- p.Asp266Asn Single submitter ⚠
- p.Asp266Val Single submitter ⚠
- p.Asp361Asn Single submitter ⚠
- p.Asp406Asn Single submitter ⚠
- p.Asp47Asn Single submitter ⚠
- p.Gln191Glu Single submitter ⚠
- p.Glu144Gln Single submitter ⚠
- p.Glu149Lys Single submitter ⚠
- p.Glu250Lys Single submitter ⚠
- p.Glu329Lys Single submitter ⚠
- p.Glu387Lys Single submitter ⚠
- p.Gly14Glu Single submitter ⚠
- p.Gly333Ser Single submitter ⚠
- p.Gly418Trp Single submitter ⚠
- p.Gly440Val Single submitter ⚠
- p.His231Arg Single submitter ⚠
- p.His231Gln Single submitter ⚠
- p.His27Gln Single submitter ⚠
- p.His27Leu Single submitter ⚠
- p.His341Arg Single submitter ⚠
- p.Ile154Thr Single submitter ⚠
- p.Ile245Val Single submitter ⚠
- p.Ile441Thr Single submitter ⚠
- p.Leu12Ile Single submitter ⚠
- p.Leu164Phe Single submitter ⚠
- p.Leu269Val Single submitter ⚠
- p.Leu293Phe Single submitter ⚠
- p.Leu307Val Single submitter ⚠
- p.Leu30Phe Single submitter ⚠
- p.Leu362Phe Single submitter ⚠
- p.Leu40Ser Single submitter ⚠
- p.Leu44Val Single submitter ⚠
- p.Leu52Pro Single submitter ⚠
- p.Leu7Pro Single submitter ⚠
- p.Leu9Ile Single submitter ⚠
- p.Lys161Asn Single submitter ⚠
- p.Lys161Thr Single submitter ⚠
- p.Lys225Asn Single submitter ⚠
- p.Lys61Ile Single submitter ⚠
- p.Lys61Thr Single submitter ⚠
- p.Met103Thr Single submitter ⚠
- p.Met132Val Single submitter ⚠
- p.Pro383Arg Single submitter ⚠
- p.Pro472Ser Single submitter ⚠
- p.Ser128Phe Single submitter ⚠
- p.Ser141Asn Single submitter ⚠
- p.Ser181Pro Single submitter ⚠
- p.Ser207Pro Single submitter ⚠
- p.Ser294Leu Single submitter ⚠
- p.Thr175Ala Single submitter ⚠
- p.Thr267Asn Single submitter ⚠
- p.Tyr111Cys Single submitter ⚠
- p.Tyr348Cys Single submitter ⚠
- p.Val212Ala Single submitter ⚠
- p.Val65Ile Single submitter CYP2B6-related disorder ⚠
- p.Val68Ile Single submitter ⚠