CYB5D2 — 57 ClinVar variants
All ClinVar germline CYB5D2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
4 Likely benign · 53 Uncertain significance
Full CYB5D2 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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYB5D2 p.Ala111Asp Uncertain significance Single submitter
- CYB5D2 p.Ala177Val Uncertain significance Single submitter
- CYB5D2 p.Ala17Val Uncertain significance Single submitter
- CYB5D2 p.Ala18Val Uncertain significance Single submitter
- CYB5D2 p.Ala19Val Uncertain significance Single submitter
- CYB5D2 p.Ala248Ser Uncertain significance Single submitter
- CYB5D2 p.Ala58Val Uncertain significance Single submitter
- CYB5D2 p.Arg239His Uncertain significance Single submitter
- CYB5D2 p.Asn162Lys Uncertain significance Single submitter
- CYB5D2 p.Asn233Lys Uncertain significance Single submitter
- CYB5D2 p.Cys253Ser Uncertain significance Single submitter
- CYB5D2 p.Gly131Ala Uncertain significance Single submitter
- CYB5D2 p.His236Gln Uncertain significance Single submitter
- CYB5D2 p.His244Tyr Uncertain significance Single submitter
- CYB5D2 p.Ile258Val Uncertain significance Single submitter
- CYB5D2 p.Leu256Pro Uncertain significance Single submitter
- CYB5D2 p.Lys209Glu Uncertain significance Single submitter
- CYB5D2 p.Pro226Thr Uncertain significance Single submitter
- CYB5D2 p.Pro255Leu Uncertain significance Single submitter
- CYB5D2 p.Thr171Ile Uncertain significance Single submitter
- CYB5D2 p.Thr223Ser Uncertain significance Single submitter
- CYB5D2 p.Val105Leu Uncertain significance Single submitter
Predictors split 32
The independent predictors disagree with each other — read with care.
- CYB5D2 p.Ala154Val Likely benign Single submitter
- CYB5D2 p.Ala22Thr Uncertain significance Single submitter
- CYB5D2 p.Ala90Val Uncertain significance Single submitter
- CYB5D2 p.Arg136Gln Uncertain significance Single submitter
- CYB5D2 p.Arg186Trp Uncertain significance Single submitter
- CYB5D2 p.Arg62Leu Uncertain significance Single submitter
- CYB5D2 p.Arg7Cys Uncertain significance Single submitter
- CYB5D2 p.Asp107Glu Uncertain significance Single submitter
- CYB5D2 p.Asp241Glu Uncertain significance Single submitter
- CYB5D2 p.Asp52His Uncertain significance Single submitter
- CYB5D2 p.Gln167Arg Uncertain significance Single submitter
- CYB5D2 p.Glu168Lys Uncertain significance Single submitter
- CYB5D2 p.Leu242Pro Uncertain significance Single submitter
- CYB5D2 p.Leu55Pro Uncertain significance Single submitter
- CYB5D2 p.Leu9Phe Uncertain significance Single submitter
- CYB5D2 p.Lys213Met Uncertain significance Single submitter
- CYB5D2 p.Pro146Gln Uncertain significance Single submitter
- CYB5D2 p.Pro146Leu Uncertain significance Single submitter
- CYB5D2 p.Pro146Ser Uncertain significance Single submitter
- CYB5D2 p.Pro225Leu Uncertain significance Single submitter
- CYB5D2 p.Pro263Leu Uncertain significance Single submitter
- CYB5D2 p.Pro53Ser Uncertain significance Single submitter
- CYB5D2 p.Pro75Leu Uncertain significance Single submitter
- CYB5D2 p.Ser97Cys Uncertain significance Single submitter
- CYB5D2 p.Trp29Arg Uncertain significance Single submitter
- CYB5D2 p.Tyr79Cys Uncertain significance Single submitter
- CYB5D2 p.Val102Met Uncertain significance Single submitter
- CYB5D2 p.Val130Phe Uncertain significance Single submitter
- CYB5D2 p.Val151Ile Uncertain significance Single submitter
- CYB5D2 p.Val203Ile Uncertain significance Single submitter
- CYB5D2 p.Val92Leu Uncertain significance Single submitter
- CYB5D2 p.Val92Met Uncertain significance Single submitter
All CYB5D2 variants
Likely benign 4
- p.Ala154Val Single submitter ⚠
- p.Arg216His Single submitter
- p.Asn233Ser Single submitter
- p.Gly30Ser Single submitter
Uncertain significance 53
- p.Ala111Asp Single submitter ⚠
- p.Ala177Val Single submitter ⚠
- p.Ala17Val Single submitter ⚠
- p.Ala18Val Single submitter ⚠
- p.Ala19Val Single submitter ⚠
- p.Ala22Thr Single submitter ⚠
- p.Ala248Ser Single submitter ⚠
- p.Ala58Val Single submitter ⚠
- p.Ala90Val Single submitter ⚠
- p.Arg136Gln Single submitter ⚠
- p.Arg186Trp Single submitter ⚠
- p.Arg239His Single submitter ⚠
- p.Arg62Leu Single submitter ⚠
- p.Arg7Cys Single submitter ⚠
- p.Asn162Lys Single submitter ⚠
- p.Asn233Lys Single submitter ⚠
- p.Asp107Glu Single submitter ⚠
- p.Asp241Glu Single submitter ⚠
- p.Asp52His Single submitter ⚠
- p.Cys253Ser Single submitter ⚠
- p.Gln167Arg Single submitter ⚠
- p.Glu168Lys Single submitter ⚠
- p.Gly131Ala Single submitter ⚠
- p.His236Gln Single submitter ⚠
- p.His244Tyr Single submitter ⚠
- p.Ile258Val Single submitter ⚠
- p.Leu242Pro Single submitter ⚠
- p.Leu256Pro Single submitter ⚠
- p.Leu55Pro Single submitter ⚠
- p.Leu9Phe Single submitter ⚠
- p.Lys209Glu Single submitter ⚠
- p.Lys213Met Single submitter ⚠
- p.Pro146Gln Single submitter ⚠
- p.Pro146Leu Single submitter ⚠
- p.Pro146Ser Single submitter ⚠
- p.Pro225Leu Single submitter ⚠
- p.Pro226Thr Single submitter ⚠
- p.Pro255Leu Single submitter ⚠
- p.Pro263Leu Single submitter ⚠
- p.Pro53Ser Single submitter ⚠
- p.Pro75Leu Single submitter ⚠
- p.Ser97Cys Single submitter ⚠
- p.Thr171Ile Single submitter ⚠
- p.Thr223Ser Single submitter ⚠
- p.Trp29Arg Single submitter ⚠
- p.Tyr79Cys Single submitter ⚠
- p.Val102Met Single submitter ⚠
- p.Val105Leu Single submitter ⚠
- p.Val130Phe Single submitter ⚠
- p.Val151Ile Single submitter ⚠
- p.Val203Ile Single submitter ⚠
- p.Val92Leu Single submitter ⚠
- p.Val92Met Single submitter ⚠