CYB5A — 22 ClinVar variants
All ClinVar germline CYB5A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 8 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 2 Conflicting · 5 Benign · 3 Likely benign · 9 Uncertain significance
Full CYB5A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 8
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 5
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 1
The independent predictors disagree with each other — read with care.
All CYB5A variants
Pathogenic 1
- c.130-2A>G No assertion criteria methemoglobinemia type 4
Likely pathogenic 2
- p.His44Leu Single submitter methemoglobinemia type 4
- p.Trp27Ter Single submitter methemoglobinemia type 4
Conflicting classifications of pathogenicity 2
Benign 5
- c.129+11G>T Multiple submitters
- c.130-13C>A Multiple submitters
- p.Pro96= Multiple submitters
- p.Tyr12= Multiple submitters
- c.259-19C>G Single submitter
Likely benign 3
- p.Leu92= Single submitter
- p.Val66= Single submitter
- c.130-9T>C No assertion criteria CYB5A-related disorder
Uncertain significance 9
- p.Ile81Thr Multiple submitters ⚠
- p.Pro86Ser Multiple submitters
- c.258+3A>C Single submitter
- p.Glu42Gln Single submitter
- p.Gly67Arg Single submitter ⚠
- p.Ile81Val Single submitter ⚠
- p.Leu92Val Single submitter ⚠
- p.Ser76Cys Single submitter ⚠
- p.Trp27Gly Single submitter ⚠