CYP26A1 — 68 ClinVar variants
All ClinVar germline CYP26A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
2 Benign · 1 Benign/Likely benign · 3 Likely benign · 62 Uncertain significance
Full CYP26A1 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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYP26A1 p.Ala253Gly Uncertain significance Single submitter
- CYP26A1 p.Ala289Ser Uncertain significance Single submitter
- CYP26A1 p.Arg173His Uncertain significance Single submitter
- CYP26A1 p.Arg365Gly Uncertain significance Single submitter
- CYP26A1 p.Arg38Ser Uncertain significance Single submitter
- CYP26A1 p.Asn393His Uncertain significance Single submitter
- CYP26A1 p.Asp286Gly Uncertain significance Single submitter
- CYP26A1 p.Asp29Gly Uncertain significance Single submitter
- CYP26A1 p.Asp342Glu Uncertain significance Single submitter
- CYP26A1 p.Asp403Asn Uncertain significance Single submitter
- CYP26A1 p.Gln208His Uncertain significance Single submitter
- CYP26A1 p.Gln265His Uncertain significance Single submitter
- CYP26A1 p.Glu158Lys Uncertain significance Single submitter
- CYP26A1 p.Glu207Gln Uncertain significance Single submitter
- CYP26A1 p.Glu56Gln Uncertain significance Single submitter
- CYP26A1 p.Gly202Asp Uncertain significance Single submitter
- CYP26A1 p.Gly264Arg Uncertain significance Single submitter
- CYP26A1 p.Gly317Arg Uncertain significance Single submitter
- CYP26A1 p.Gly385Glu Uncertain significance Single submitter
- CYP26A1 p.Gly444Ser Uncertain significance Single submitter
- CYP26A1 p.Gly47Glu Uncertain significance Single submitter
- CYP26A1 p.His111Arg Uncertain significance Single submitter
- CYP26A1 p.His462Tyr Uncertain significance Single submitter
- CYP26A1 p.Ile247Met Uncertain significance Single submitter
- CYP26A1 p.Ile313Val Uncertain significance Single submitter
- CYP26A1 p.Ile356Val Uncertain significance Single submitter
- CYP26A1 p.Ile395Leu Uncertain significance Single submitter
- CYP26A1 p.Ile398Val Uncertain significance Single submitter
- CYP26A1 p.Leu193Gln Uncertain significance Single submitter
- CYP26A1 p.Leu274Trp Uncertain significance Single submitter
- CYP26A1 p.Leu285Val Uncertain significance Single submitter
- CYP26A1 p.Leu353Phe Uncertain significance Single submitter
- CYP26A1 p.Lys182Arg Uncertain significance Single submitter
- CYP26A1 p.Met347Val Uncertain significance Single submitter
- CYP26A1 p.Met474Val Uncertain significance Single submitter
- CYP26A1 p.Pro4Arg Uncertain significance Single submitter
- CYP26A1 p.Ser163Asn Uncertain significance Single submitter
- CYP26A1 p.Ser39Asn Uncertain significance Single submitter
- CYP26A1 p.Thr476Pro Uncertain significance Single submitter
- CYP26A1 p.Thr48Ile Uncertain significance Single submitter
- CYP26A1 p.Val322Ile Uncertain significance Single submitter
- CYP26A1 p.Val33Met Uncertain significance Single submitter
- CYP26A1 p.Val480Met Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- CYP26A1 p.Arg142Trp Uncertain significance Single submitter
- CYP26A1 p.Arg146Ser Uncertain significance Single submitter
- CYP26A1 p.Arg259Trp Uncertain significance Single submitter
- CYP26A1 p.Glu159Lys Uncertain significance Single submitter
- CYP26A1 p.His244Arg Uncertain significance Single submitter
- CYP26A1 p.His302Arg Uncertain significance Single submitter
- CYP26A1 p.Leu224Pro Uncertain significance Single submitter
- CYP26A1 p.Phe53Cys Uncertain significance Single submitter
- CYP26A1 p.Phe53Leu Uncertain significance Single submitter
- CYP26A1 p.Thr305Met Uncertain significance Single submitter
- CYP26A1 p.Val108Leu Uncertain significance Single submitter
All CYP26A1 variants
Benign/Likely benign 1
- p.Leu149= Multiple submitters
Likely benign 3
- c.865-8A>G Single submitter
- p.Met420Leu Single submitter
- p.Val211Leu No assertion criteria CYP26A1-related condition
Uncertain significance 62
- c.1184T>C Single submitter Optic nerve hypoplasia
- p.Ala253Gly Single submitter ⚠
- p.Ala289Ser Single submitter ⚠
- p.Arg117Leu Single submitter
- p.Arg142Trp Single submitter ⚠
- p.Arg146Cys Single submitter
- p.Arg146Ser Single submitter ⚠
- p.Arg173His Single submitter ⚠
- p.Arg259Trp Single submitter ⚠
- p.Arg365Gly Single submitter ⚠
- p.Arg38Ser Single submitter ⚠
- p.Asn393His Single submitter ⚠
- p.Asp286Gly Single submitter ⚠
- p.Asp29Gly Single submitter ⚠
- p.Asp342Glu Single submitter ⚠
- p.Asp403Asn Single submitter ⚠
- p.Asp417His Single submitter
- p.Gln208His Single submitter ⚠
- p.Gln265His Single submitter ⚠
- p.Glu158Lys Single submitter ⚠
- p.Glu159Lys Single submitter ⚠
- p.Glu207Gln Single submitter ⚠
- p.Glu248Gln Single submitter
- p.Glu56Gln Single submitter ⚠
- p.Gly202Asp Single submitter ⚠
- p.Gly264Arg Single submitter ⚠
- p.Gly317Arg Single submitter ⚠
- p.Gly385Glu Single submitter ⚠
- p.Gly444Ser Single submitter ⚠
- p.Gly47Glu Single submitter ⚠
- p.His105Gln Single submitter
- p.His111Arg Single submitter ⚠
- p.His244Arg Single submitter ⚠
- p.His302Arg Single submitter ⚠
- p.His462Tyr Single submitter ⚠
- p.Ile247Met Single submitter ⚠
- p.Ile251Val Single submitter
- p.Ile313Val Single submitter ⚠
- p.Ile356Val Single submitter ⚠
- p.Ile395Leu Single submitter ⚠
- p.Ile398Val Single submitter ⚠
- p.Leu102His Single submitter
- p.Leu193Gln Single submitter ⚠
- p.Leu224Pro Single submitter ⚠
- p.Leu274Trp Single submitter ⚠
- p.Leu285Val Single submitter ⚠
- p.Leu353Phe Single submitter ⚠
- p.Lys182Arg Single submitter ⚠
- p.Met347Val Single submitter ⚠
- p.Met474Val Single submitter ⚠
- p.Phe53Cys Single submitter ⚠
- p.Phe53Leu Single submitter ⚠
- p.Pro4Arg Single submitter ⚠
- p.Ser163Asn Single submitter ⚠
- p.Ser39Asn Single submitter ⚠
- p.Thr305Met Single submitter ⚠
- p.Thr476Pro Single submitter ⚠
- p.Thr48Ile Single submitter ⚠
- p.Val108Leu Single submitter ⚠
- p.Val322Ile Single submitter ⚠
- p.Val33Met Single submitter ⚠
- p.Val480Met Single submitter ⚠