CYP4B1 — 92 ClinVar variants

All ClinVar germline CYP4B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →

1 Conflicting · 8 Benign · 2 Benign/Likely benign · 4 Likely benign · 77 Uncertain significance

Full CYP4B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 74

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.

CYP4B1 p.Phe5Ile Conflicting Single submitter

Predictors lean, ClinVar uncertain 48

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

Predictors split 25

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

All CYP4B1 variants

Conflicting classifications of pathogenicity 1

p.Phe5Ile Single submitter ⚠

Benign 8

c.1208-10C>T Multiple submitters
p.Arg265Trp Multiple submitters
p.Arg483Gln Multiple submitters
p.Cys370Ser Multiple submitters
p.Lys110= Multiple submitters
p.Phe355Cys Multiple submitters
p.Tyr330Ser Multiple submitters
p.Asp295fs Single submitter

Benign/Likely benign 2

p.His283= Multiple submitters
p.Pro49= Multiple submitters

Likely benign 4

p.Ala268= Single submitter
p.Arg294Gln Single submitter
p.Phe247Leu Single submitter
p.Val346Ile Single submitter

Uncertain significance 77

p.Ala267Ser Single submitter ⚠
p.Ala304Val Single submitter ⚠
p.Ala412Val Single submitter
p.Ala418Asp Single submitter ⚠
p.Ala436Gly Single submitter ⚠
p.Arg106Cys Single submitter
p.Arg138His Single submitter ⚠
p.Arg162Cys Single submitter ⚠
p.Arg199Thr Single submitter ⚠
p.Arg245Cys Single submitter ⚠
p.Arg245His Single submitter ⚠
p.Arg249Gln Single submitter ⚠
p.Arg275Trp Single submitter ⚠
p.Arg281Gln Single submitter ⚠
p.Arg281Trp Single submitter ⚠
p.Arg282Thr Single submitter ⚠
p.Arg347Cys Single submitter ⚠
p.Arg347His Single submitter ⚠
p.Arg474Cys Single submitter ⚠
p.Arg483Trp Single submitter ⚠
p.Arg494His Single submitter ⚠
p.Asp209Gly Single submitter ⚠
p.Asp218Asn Single submitter ⚠
p.Asp259Gly Single submitter ⚠
p.Asp285Asn Single submitter ⚠
p.Asp352Asn Single submitter ⚠
p.Asp422Glu Single submitter ⚠
p.Asp68Gly Single submitter ⚠
p.Cys195Tyr Single submitter ⚠
p.Cys454Tyr Single submitter ⚠
p.Gln353Lys Single submitter ⚠
p.Glu169Gly Single submitter ⚠
p.Glu309Lys Single submitter ⚠
p.Glu344Lys Single submitter ⚠
p.Glu434Lys Single submitter ⚠
p.Glu96Asp Single submitter ⚠
p.Glu96Gly Single submitter
p.Gly14Asp Single submitter ⚠
p.Gly25Asp Single submitter ⚠
p.Gly324Val Single submitter ⚠
p.Gly450Arg Single submitter ⚠
p.Gly86Arg Single submitter ⚠
p.His233Arg Single submitter ⚠
p.His340Arg Single submitter ⚠
p.His340Asp Single submitter ⚠
p.His502Tyr Single submitter ⚠
p.His57Arg Single submitter ⚠
p.Ile455Ser Single submitter ⚠
p.Ile455Thr Single submitter ⚠
p.Leu140Met Single submitter ⚠
p.Leu15Met Single submitter ⚠
p.Leu32Pro Single submitter ⚠
p.Met164Ile Single submitter ⚠
p.Met187Leu Single submitter ⚠
p.Met332Val Single submitter ⚠
p.Met369Ile Single submitter ⚠
p.Met43Leu Single submitter ⚠
p.Met445Arg Single submitter ⚠
p.Met445Val Single submitter ⚠
p.Met464Thr Single submitter ⚠
p.Phe315Ser Single submitter ⚠
p.Phe85Ser Single submitter ⚠
p.Phe88Leu Single submitter ⚠
p.Pro3Thr Single submitter ⚠
p.Pro401Ala Single submitter ⚠
p.Pro423Leu Single submitter ⚠
p.Pro481Ala Single submitter ⚠
p.Pro481Leu Single submitter ⚠
p.Pro481Ser Single submitter ⚠
p.Pro82Leu Single submitter ⚠
p.Ser177Tyr Single submitter
p.Thr64Met Single submitter ⚠
p.Trp73Ser Single submitter ⚠
p.Tyr153Phe Single submitter ⚠
p.Val114Ala Single submitter ⚠
p.Val156Met Single submitter ⚠
p.Val253Ala Single submitter ⚠