CYB5R4 — 76 ClinVar variants

All ClinVar germline CYB5R4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →

1 Benign · 3 Likely benign · 72 Uncertain significance

Full CYB5R4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 73

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 33

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

Predictors split 40

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

All CYB5R4 variants

Benign 1

p.Pro267Ala Single submitter ⚠

Likely benign 3

p.Arg366His Single submitter ⚠
p.Gly331Asp Single submitter
p.Ile195Val Single submitter

Uncertain significance 72

p.Ala206Glu Single submitter ⚠
p.Ala444Thr Single submitter ⚠
p.Arg113Cys Single submitter ⚠
p.Arg113His Single submitter ⚠
p.Arg13Gly Single submitter ⚠
p.Arg17Cys Single submitter ⚠
p.Arg232Trp Single submitter ⚠
p.Arg420fs Single submitter
p.Asn191Ser Single submitter ⚠
p.Asn428Ser Single submitter ⚠
p.Asn510Thr Single submitter ⚠
p.Asp189Gly Single submitter ⚠
p.Asp212Asn Single submitter ⚠
p.Asp451Gly Single submitter ⚠
p.Asp508Gly Single submitter ⚠
p.Asp94Gly Single submitter ⚠
p.Gln368His Single submitter ⚠
p.Gln388Arg Single submitter ⚠
p.Gln439His Single submitter ⚠
p.Gly21Ala Single submitter ⚠
p.Gly31Asp Single submitter ⚠
p.Gly465Ser Single submitter ⚠
p.Gly49Glu Single submitter ⚠
p.Gly502Ala Single submitter ⚠
p.Ile181Val Single submitter ⚠
p.Ile183Val Single submitter ⚠
p.Ile190Val Single submitter ⚠
p.Ile217Met Single submitter ⚠
p.Ile317Val Single submitter ⚠
p.Ile348Thr Single submitter ⚠
p.Ile492Leu Single submitter ⚠
p.Ile516Phe Single submitter ⚠
p.Leu125Gln Single submitter ⚠
p.Leu192Ser Single submitter ⚠
p.Leu216Arg Single submitter ⚠
p.Leu265Pro Single submitter ⚠
p.Leu303Phe Single submitter ⚠
p.Leu413Phe Single submitter ⚠
p.Lys247Thr Single submitter ⚠
p.Lys386Glu Single submitter ⚠
p.Lys67Arg Single submitter ⚠
p.Met120Val Single submitter ⚠
p.Met150Thr Single submitter ⚠
p.Met405Val Single submitter ⚠
p.Phe478Ser Single submitter ⚠
p.Pro10Leu Single submitter ⚠
p.Pro10Ser Single submitter ⚠
p.Pro133Arg Single submitter ⚠
p.Pro152Arg Single submitter ⚠
p.Pro316Arg Single submitter ⚠
p.Pro340Thr Single submitter ⚠
p.Pro362Leu Single submitter ⚠
p.Ser166Gly Single submitter ⚠
p.Ser377Cys Single submitter ⚠
p.Ser461Cys Single submitter ⚠
p.Ser471Leu Single submitter ⚠
p.Thr290Met Single submitter ⚠
p.Thr301Ser Single submitter ⚠
p.Thr318Ala Single submitter ⚠
p.Thr48Met Single submitter ⚠
p.Thr520Pro Single submitter ⚠
p.Thr58Ala Single submitter ⚠
p.Tyr117Asp Single submitter ⚠
p.Tyr139Cys Single submitter ⚠
p.Tyr355His Single submitter ⚠
p.Tyr85Phe Single submitter ⚠
p.Val111Phe Single submitter ⚠
p.Val197Ile Single submitter ⚠
p.Val233Phe Single submitter ⚠
p.Val237Ala Single submitter ⚠
p.Val237Gly Single submitter ⚠
p.Val311Ile Single submitter ⚠