CYP26C1 — 118 ClinVar variants
All ClinVar germline CYP26C1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 94 flagged for review →
1 Pathogenic · 4 Likely pathogenic · 3 Conflicting · 5 Benign · 15 Likely benign · 90 Uncertain significance
Full CYP26C1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 94
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
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CYP26C1 p.Glu288Lys
Conflicting
Single submitter
focal facial dermal dysplasia type IV
Predictors lean, ClinVar uncertain 51
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYP26C1 p.Ala121Val Uncertain significance Single submitter
- CYP26C1 p.Ala211Gly Uncertain significance Single submitter
- CYP26C1 p.Ala435Ser Uncertain significance Single submitter
- CYP26C1 p.Ala44Thr Uncertain significance Single submitter
- CYP26C1 p.Ala465Glu Uncertain significance Single submitter
- CYP26C1 p.Ala465Val Uncertain significance Single submitter
- CYP26C1 p.Ala467Asp Uncertain significance Single submitter
- CYP26C1 p.Ala516Val Uncertain significance Single submitter
- CYP26C1 p.Arg140Leu Uncertain significance Single submitter
- CYP26C1 p.Arg170Cys Uncertain significance Single submitter
- CYP26C1 p.Arg36His Uncertain significance Single submitter
- CYP26C1 p.Arg378Leu Uncertain significance Single submitter
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CYP26C1 p.Arg378Pro
Uncertain significance
Single submitter
focal facial dermal dysplasia type IV
- CYP26C1 p.Arg422Ser Uncertain significance Single submitter
- CYP26C1 p.Asp183His Uncertain significance Single submitter
- CYP26C1 p.Gln119Glu Uncertain significance Single submitter
- CYP26C1 p.Gln314Arg Uncertain significance Single submitter
- CYP26C1 p.Glu155Ala Uncertain significance Single submitter
- CYP26C1 p.Glu204Gly Uncertain significance Single submitter
- CYP26C1 p.Glu262Ala Uncertain significance Single submitter
- CYP26C1 p.Glu346Asp Uncertain significance Single submitter
- CYP26C1 p.Glu355Lys Uncertain significance Single submitter
- CYP26C1 p.Glu438Gly Uncertain significance Single submitter
- CYP26C1 p.Gly132Val Uncertain significance Single submitter
- CYP26C1 p.Gly16Arg Uncertain significance Single submitter
- CYP26C1 p.Gly343Ala Uncertain significance Single submitter
- CYP26C1 p.Gly343Glu Uncertain significance Single submitter
- CYP26C1 p.Gly353Ala Uncertain significance Single submitter
- CYP26C1 p.Gly52Cys Uncertain significance Single submitter
- CYP26C1 p.Gly69Asp Uncertain significance Single submitter
- CYP26C1 p.His64Arg Uncertain significance Single submitter
- CYP26C1 p.Leu293Phe Uncertain significance Single submitter
- CYP26C1 p.Leu294Pro Uncertain significance Single submitter
- CYP26C1 p.Leu460Phe Uncertain significance Single submitter
- CYP26C1 p.Leu469Pro Uncertain significance Single submitter
- CYP26C1 p.Leu476Ile Uncertain significance Single submitter
- CYP26C1 p.Leu49Arg Uncertain significance Single submitter
- CYP26C1 p.Lys235Arg Uncertain significance Single submitter
- CYP26C1 p.Lys321Arg Uncertain significance Single submitter
- CYP26C1 p.Phe72Leu Uncertain significance Single submitter
- CYP26C1 p.Pro348Ser Uncertain significance Single submitter
- CYP26C1 p.Pro348Thr Uncertain significance Single submitter
- CYP26C1 p.Pro356Leu Uncertain significance Single submitter
- CYP26C1 p.Pro402Leu Uncertain significance Single submitter
- CYP26C1 p.Thr306Ala Uncertain significance Single submitter
- CYP26C1 p.Thr479Ser Uncertain significance Single submitter
- CYP26C1 p.Thr62Lys Uncertain significance Single submitter
- CYP26C1 p.Trp405Cys Uncertain significance Single submitter
- CYP26C1 p.Trp4Ser Uncertain significance Single submitter
- CYP26C1 p.Val376Leu Uncertain significance Single submitter
- CYP26C1 p.Val420Ala Uncertain significance Single submitter
Predictors split 42
The independent predictors disagree with each other — read with care.
- CYP26C1 p.Arg238Gln Benign Multiple submitters
- CYP26C1 p.Glu136Gly Uncertain significance Multiple submitters
- CYP26C1 p.Pro178Leu Benign Multiple submitters
- CYP26C1 p.Pro425Ser Uncertain significance Multiple submitters
- CYP26C1 p.Ala14Val Uncertain significance Single submitter
- CYP26C1 p.Ala184Thr Uncertain significance Single submitter
- CYP26C1 p.Ala436Val Uncertain significance Single submitter
- CYP26C1 p.Ala456Glu Uncertain significance Single submitter
- CYP26C1 p.Ala491Thr Uncertain significance Single submitter
- CYP26C1 p.Arg156Leu Uncertain significance Single submitter
- CYP26C1 p.Arg191Leu Uncertain significance Single submitter
- CYP26C1 p.Arg240Lys Uncertain significance Single submitter
- CYP26C1 p.Arg367Cys Uncertain significance Single submitter
- CYP26C1 p.Arg41Trp Uncertain significance Single submitter
- CYP26C1 p.Arg437Cys Uncertain significance Single submitter
- CYP26C1 p.Asp258Tyr Uncertain significance Single submitter
- CYP26C1 p.Asp265Asn Uncertain significance Single submitter
- CYP26C1 p.Asp502Asn Uncertain significance Single submitter
- CYP26C1 p.Cys352Tyr Uncertain significance Single submitter
- CYP26C1 p.Glu346Lys Uncertain significance Single submitter
- CYP26C1 p.Gly343Trp Uncertain significance Single submitter
- CYP26C1 p.Gly398Ser Uncertain significance Single submitter
- CYP26C1 p.Gly503Arg Uncertain significance Single submitter
- CYP26C1 p.His110Tyr Uncertain significance Single submitter
- CYP26C1 p.His122Tyr Uncertain significance Single submitter
- CYP26C1 p.Ile123Asn Uncertain significance Single submitter
- CYP26C1 p.Leu106Met Uncertain significance Single submitter
- CYP26C1 p.Leu106Val Uncertain significance Single submitter
- CYP26C1 p.Phe58Tyr Uncertain significance Single submitter
- CYP26C1 p.Phe72Tyr Uncertain significance Single submitter
- CYP26C1 p.Pro229Ala Uncertain significance Single submitter
- CYP26C1 p.Pro339Leu Uncertain significance Single submitter
- CYP26C1 p.Pro490Thr Uncertain significance Single submitter
- CYP26C1 p.Pro513Thr Uncertain significance Single submitter
- CYP26C1 p.Ser185Pro Uncertain significance Single submitter
- CYP26C1 p.Ser406Arg Uncertain significance Single submitter
- CYP26C1 p.Ser440Cys Uncertain significance Single submitter
- CYP26C1 p.Ser444Phe Uncertain significance Single submitter
- CYP26C1 p.Ser445Thr Uncertain significance Single submitter
- CYP26C1 p.Thr62Ser Conflicting Single submitter
- CYP26C1 p.Val228Phe Uncertain significance Single submitter
- CYP26C1 p.Val93Leu Uncertain significance Single submitter
All CYP26C1 variants
Pathogenic 1
- p.Ala153fs Single submitter
Likely pathogenic 4
- c.1191+1G>A Single submitter focal facial dermal dysplasia type IV
- p.Asp413fs Single submitter focal facial dermal dysplasia type IV
- p.Cys352Ter Single submitter focal facial dermal dysplasia type IV
- p.Trp117Ter Single submitter focal facial dermal dysplasia type IV
Conflicting classifications of pathogenicity 3
- p.Gln284fs Single submitter focal facial dermal dysplasia type IV
- p.Glu288Lys Single submitter focal facial dermal dysplasia type IV ⚠
- p.Thr62Ser Single submitter ⚠
Benign 5
- p.Ala467= Multiple submitters
- p.Arg238Gln Multiple submitters ⚠
- p.Pro178Leu Multiple submitters ⚠
- p.Ser289= Multiple submitters
- p.Phe295= Single submitter
Likely benign 15
- p.Leu28= Multiple submitters
- p.Pro263= Multiple submitters
- p.Ala22= Single submitter
- p.Asp183Glu Single submitter
- p.Gln119Pro Single submitter Optic nerve hypoplasia
- p.Gly135= Single submitter
- p.Gly16Ala Single submitter
- p.Gly177Arg Single submitter
- p.Gly249Glu Single submitter
- p.His415Asp Single submitter Anophthalmia-microphthalmia syndrome
- p.Leu311= Single submitter
- p.Val420= Single submitter
- p.Ala153= No assertion criteria CYP26C1-related disorder
- p.Ala174= No assertion criteria CYP26C1-related disorder
- p.Ile497= No assertion criteria CYP26C1-related disorder
Uncertain significance 90
- p.Glu136Gly Multiple submitters ⚠
- p.Pro425Ser Multiple submitters ⚠
- p.Ala121Val Single submitter ⚠
- p.Ala14Val Single submitter ⚠
- p.Ala184Thr Single submitter ⚠
- p.Ala211Gly Single submitter ⚠
- p.Ala435Ser Single submitter ⚠
- p.Ala436Val Single submitter ⚠
- p.Ala44Thr Single submitter ⚠
- p.Ala456Glu Single submitter ⚠
- p.Ala465Glu Single submitter ⚠
- p.Ala465Val Single submitter ⚠
- p.Ala467Asp Single submitter ⚠
- p.Ala491Thr Single submitter ⚠
- p.Ala516Val Single submitter ⚠
- p.Arg140Leu Single submitter ⚠
- p.Arg156Leu Single submitter ⚠
- p.Arg170Cys Single submitter ⚠
- p.Arg191Leu Single submitter ⚠
- p.Arg240Lys Single submitter ⚠
- p.Arg367Cys Single submitter ⚠
- p.Arg36His Single submitter ⚠
- p.Arg378Leu Single submitter ⚠
- p.Arg378Pro Single submitter focal facial dermal dysplasia type IV ⚠
- p.Arg41Trp Single submitter ⚠
- p.Arg422Ser Single submitter ⚠
- p.Arg437Cys Single submitter ⚠
- p.Asp183His Single submitter ⚠
- p.Asp258Tyr Single submitter ⚠
- p.Asp265Asn Single submitter ⚠
- p.Asp502Asn Single submitter ⚠
- p.Cys352Tyr Single submitter ⚠
- p.Gln119Glu Single submitter ⚠
- p.Gln314Arg Single submitter ⚠
- p.Glu155Ala Single submitter ⚠
- p.Glu204Gly Single submitter ⚠
- p.Glu262Ala Single submitter ⚠
- p.Glu346Asp Single submitter ⚠
- p.Glu346Lys Single submitter ⚠
- p.Glu355Lys Single submitter ⚠
- p.Glu438Gly Single submitter ⚠
- p.Gly132Val Single submitter ⚠
- p.Gly16Arg Single submitter ⚠
- p.Gly343Ala Single submitter ⚠
- p.Gly343Glu Single submitter ⚠
- p.Gly343Trp Single submitter ⚠
- p.Gly353Ala Single submitter ⚠
- p.Gly398Ser Single submitter ⚠
- p.Gly503Arg Single submitter ⚠
- p.Gly52Cys Single submitter ⚠
- p.Gly69Asp Single submitter ⚠
- p.His110Tyr Single submitter ⚠
- p.His122Tyr Single submitter ⚠
- p.His64Arg Single submitter ⚠
- p.Ile123Asn Single submitter ⚠
- p.Leu106Met Single submitter ⚠
- p.Leu106Val Single submitter ⚠
- p.Leu293Phe Single submitter ⚠
- p.Leu294Pro Single submitter ⚠
- p.Leu460Phe Single submitter ⚠
- p.Leu469Pro Single submitter ⚠
- p.Leu476Ile Single submitter ⚠
- p.Leu49Arg Single submitter ⚠
- p.Lys235Arg Single submitter ⚠
- p.Lys321Arg Single submitter ⚠
- p.Phe58Tyr Single submitter ⚠
- p.Phe72Leu Single submitter ⚠
- p.Phe72Tyr Single submitter ⚠
- p.Pro229Ala Single submitter ⚠
- p.Pro339Leu Single submitter ⚠
- p.Pro348Ser Single submitter ⚠
- p.Pro348Thr Single submitter ⚠
- p.Pro356Leu Single submitter ⚠
- p.Pro402Leu Single submitter ⚠
- p.Pro490Thr Single submitter ⚠
- p.Pro513Thr Single submitter ⚠
- p.Ser185Pro Single submitter ⚠
- p.Ser406Arg Single submitter ⚠
- p.Ser440Cys Single submitter ⚠
- p.Ser444Phe Single submitter ⚠
- p.Ser445Thr Single submitter ⚠
- p.Thr306Ala Single submitter ⚠
- p.Thr479Ser Single submitter ⚠
- p.Thr62Lys Single submitter ⚠
- p.Trp405Cys Single submitter ⚠
- p.Trp4Ser Single submitter ⚠
- p.Val228Phe Single submitter ⚠
- p.Val376Leu Single submitter ⚠
- p.Val420Ala Single submitter ⚠
- p.Val93Leu Single submitter ⚠