CYP20A1 — 57 ClinVar variants
All ClinVar germline CYP20A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
2 Benign · 2 Likely benign · 53 Uncertain significance
Full CYP20A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 54
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYP20A1 p.Asn120Ser Uncertain significance Single submitter
- CYP20A1 p.Asn246Asp Uncertain significance Single submitter
- CYP20A1 p.Asn246Thr Uncertain significance Single submitter
- CYP20A1 p.Asn92Ser Uncertain significance Single submitter
- CYP20A1 p.Asp263Glu Uncertain significance Single submitter
- CYP20A1 p.Asp348Asn Uncertain significance Single submitter
- CYP20A1 p.Cys331Tyr Uncertain significance Single submitter
- CYP20A1 p.Glu158Gln Uncertain significance Single submitter
- CYP20A1 p.Glu40Ala Uncertain significance Single submitter
- CYP20A1 p.Glu441Asp Uncertain significance Single submitter
- CYP20A1 p.Glu445Gly Uncertain significance Single submitter
- CYP20A1 p.Glu56Asp Uncertain significance Single submitter
- CYP20A1 p.Gly114Asp Uncertain significance Single submitter
- CYP20A1 p.Gly369Cys Uncertain significance Single submitter
- CYP20A1 p.Gly82Ser Uncertain significance Single submitter
- CYP20A1 p.His198Tyr Uncertain significance Single submitter
- CYP20A1 p.His250Arg Uncertain significance Single submitter
- CYP20A1 p.Ile280Val Uncertain significance Single submitter
- CYP20A1 p.Ile357Val Uncertain significance Single submitter
- CYP20A1 p.Ile91Ser Uncertain significance Single submitter
- CYP20A1 p.Leu323Pro Uncertain significance Single submitter
- CYP20A1 p.Leu365Phe Uncertain significance Single submitter
- CYP20A1 p.Leu423His Uncertain significance Single submitter
- CYP20A1 p.Leu58Gln Uncertain significance Single submitter
- CYP20A1 p.Lys105Glu Uncertain significance Single submitter
- CYP20A1 p.Lys152Glu Uncertain significance Single submitter
- CYP20A1 p.Lys319Asn Uncertain significance Single submitter
- CYP20A1 p.Met122Val Uncertain significance Single submitter
- CYP20A1 p.Met173Val Uncertain significance Single submitter
- CYP20A1 p.Met179Val Uncertain significance Single submitter
- CYP20A1 p.Ser80Gly Uncertain significance Single submitter
- CYP20A1 p.Thr184Pro Uncertain significance Single submitter
- CYP20A1 p.Thr406Ser Uncertain significance Single submitter
- CYP20A1 p.Val439Ile Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- CYP20A1 p.Ile353Met Benign Multiple submitters
- CYP20A1 p.Arg220Gln Uncertain significance Single submitter
- CYP20A1 p.Arg220Trp Uncertain significance Single submitter
- CYP20A1 p.Arg76Cys Uncertain significance Single submitter
- CYP20A1 p.Gln189His Uncertain significance Single submitter
- CYP20A1 p.Gln347His Uncertain significance Single submitter
- CYP20A1 p.Gly208Ala Uncertain significance Single submitter
- CYP20A1 p.Gly369Asp Uncertain significance Single submitter
- CYP20A1 p.Gly437Glu Uncertain significance Single submitter
- CYP20A1 p.Leu61Phe Uncertain significance Single submitter
- CYP20A1 p.Pro163Leu Uncertain significance Single submitter
- CYP20A1 p.Pro24Gln Uncertain significance Single submitter
- CYP20A1 p.Pro67Leu Uncertain significance Single submitter
- CYP20A1 p.Ser295Phe Uncertain significance Single submitter
- CYP20A1 p.Thr333Ser Uncertain significance Single submitter
- CYP20A1 p.Trp455Ser Uncertain significance Single submitter
- CYP20A1 p.Tyr65Asp Uncertain significance Single submitter
- CYP20A1 p.Val309Ala Uncertain significance Single submitter
- CYP20A1 p.Val315Leu Uncertain significance Single submitter
- CYP20A1 p.Val364Phe Uncertain significance Single submitter
All CYP20A1 variants
Benign 2
- p.Glu392Lys Multiple submitters
- p.Ile353Met Multiple submitters ⚠
Likely benign 2
- p.His328Gln Single submitter
- p.Ser400Leu Single submitter
Uncertain significance 53
- p.Arg220Gln Single submitter ⚠
- p.Arg220Trp Single submitter ⚠
- p.Arg76Cys Single submitter ⚠
- p.Asn120Ser Single submitter ⚠
- p.Asn246Asp Single submitter ⚠
- p.Asn246Thr Single submitter ⚠
- p.Asn92Ser Single submitter ⚠
- p.Asp263Glu Single submitter ⚠
- p.Asp348Asn Single submitter ⚠
- p.Cys331Tyr Single submitter ⚠
- p.Gln189His Single submitter ⚠
- p.Gln347His Single submitter ⚠
- p.Glu158Gln Single submitter ⚠
- p.Glu40Ala Single submitter ⚠
- p.Glu441Asp Single submitter ⚠
- p.Glu445Gly Single submitter ⚠
- p.Glu56Asp Single submitter ⚠
- p.Gly114Asp Single submitter ⚠
- p.Gly208Ala Single submitter ⚠
- p.Gly369Asp Single submitter ⚠
- p.Gly369Cys Single submitter ⚠
- p.Gly437Glu Single submitter ⚠
- p.Gly82Ser Single submitter ⚠
- p.His198Tyr Single submitter ⚠
- p.His250Arg Single submitter ⚠
- p.Ile280Val Single submitter ⚠
- p.Ile357Val Single submitter ⚠
- p.Ile91Ser Single submitter ⚠
- p.Leu323Pro Single submitter ⚠
- p.Leu365Phe Single submitter ⚠
- p.Leu423His Single submitter ⚠
- p.Leu58Gln Single submitter ⚠
- p.Leu61Phe Single submitter ⚠
- p.Lys105Glu Single submitter ⚠
- p.Lys152Glu Single submitter ⚠
- p.Lys319Asn Single submitter ⚠
- p.Met122Val Single submitter ⚠
- p.Met173Val Single submitter ⚠
- p.Met179Val Single submitter ⚠
- p.Pro163Leu Single submitter ⚠
- p.Pro24Gln Single submitter ⚠
- p.Pro67Leu Single submitter ⚠
- p.Ser295Phe Single submitter ⚠
- p.Ser80Gly Single submitter ⚠
- p.Thr184Pro Single submitter ⚠
- p.Thr333Ser Single submitter ⚠
- p.Thr406Ser Single submitter ⚠
- p.Trp455Ser Single submitter ⚠
- p.Tyr65Asp Single submitter ⚠
- p.Val309Ala Single submitter ⚠
- p.Val315Leu Single submitter ⚠
- p.Val364Phe Single submitter ⚠
- p.Val439Ile Single submitter ⚠