CYB5D1 — 47 ClinVar variants
All ClinVar germline CYB5D1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
2 Likely benign · 45 Uncertain significance
Full CYB5D1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYB5D1 p.Arg4Gln Uncertain significance Single submitter
- CYB5D1 p.Asp188His Uncertain significance Single submitter
- CYB5D1 p.Asp224Asn Uncertain significance Single submitter
- CYB5D1 p.Asp224His Uncertain significance Single submitter
- CYB5D1 p.Cys90Ser Uncertain significance Single submitter
- CYB5D1 p.Gln122Arg Uncertain significance Single submitter
- CYB5D1 p.Glu200Gln Uncertain significance Single submitter
- CYB5D1 p.Glu202Gln Uncertain significance Single submitter
- CYB5D1 p.Glu24Ala Uncertain significance Single submitter
- CYB5D1 p.Gly66Asp Uncertain significance Single submitter
- CYB5D1 p.Gly89Arg Uncertain significance Single submitter
- CYB5D1 p.His102Gln Uncertain significance Single submitter
- CYB5D1 p.Ile84Leu Uncertain significance Single submitter
- CYB5D1 p.Leu6Pro Uncertain significance Single submitter
- CYB5D1 p.Lys118Arg Uncertain significance Single submitter
- CYB5D1 p.Met187Ile Uncertain significance Single submitter
- CYB5D1 p.Phe189Ser Uncertain significance Single submitter
- CYB5D1 p.Phe73Ser Uncertain significance Single submitter
- CYB5D1 p.Tyr176His Uncertain significance Single submitter
- CYB5D1 p.Tyr205Cys Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- CYB5D1 p.Ala174Thr Uncertain significance Single submitter
- CYB5D1 p.Ala23Val Uncertain significance Single submitter
- CYB5D1 p.Arg130Trp Uncertain significance Single submitter
- CYB5D1 p.Arg136Gln Uncertain significance Single submitter
- CYB5D1 p.Arg139Gly Uncertain significance Single submitter
- CYB5D1 p.Arg139His Uncertain significance Single submitter
- CYB5D1 p.Arg165Cys Uncertain significance Single submitter
- CYB5D1 p.Arg18Cys Uncertain significance Single submitter
- CYB5D1 p.Arg18His Uncertain significance Single submitter
- CYB5D1 p.Arg3Cys Uncertain significance Single submitter
- CYB5D1 p.Arg99His Uncertain significance Single submitter
- CYB5D1 p.Asn114Lys Uncertain significance Single submitter
- CYB5D1 p.Leu87Pro Uncertain significance Single submitter
- CYB5D1 p.Lys134Asn Uncertain significance Single submitter
- CYB5D1 p.Phe116Leu Uncertain significance Single submitter
- CYB5D1 p.Pro105Leu Uncertain significance Single submitter
- CYB5D1 p.Pro215Ser Uncertain significance Single submitter
- CYB5D1 p.Pro22Arg Uncertain significance Single submitter
- CYB5D1 p.Pro31Ser Uncertain significance Single submitter
- CYB5D1 p.Ser70Gly Uncertain significance Single submitter
- CYB5D1 p.Thr143Ala Uncertain significance Single submitter
- CYB5D1 p.Thr21Lys Uncertain significance Single submitter
- CYB5D1 p.Thr226Met Uncertain significance Single submitter
- CYB5D1 p.Tyr126Cys Uncertain significance Single submitter
- CYB5D1 p.Tyr169Cys Uncertain significance Single submitter
All CYB5D1 variants
Likely benign 2
- p.Arg78Lys Single submitter
- p.Ser137Asn Single submitter
Uncertain significance 45
- p.Ala174Thr Single submitter ⚠
- p.Ala23Val Single submitter ⚠
- p.Arg130Trp Single submitter ⚠
- p.Arg136Gln Single submitter ⚠
- p.Arg139Gly Single submitter ⚠
- p.Arg139His Single submitter ⚠
- p.Arg165Cys Single submitter ⚠
- p.Arg18Cys Single submitter ⚠
- p.Arg18His Single submitter ⚠
- p.Arg3Cys Single submitter ⚠
- p.Arg4Gln Single submitter ⚠
- p.Arg99His Single submitter ⚠
- p.Asn114Lys Single submitter ⚠
- p.Asp188His Single submitter ⚠
- p.Asp224Asn Single submitter ⚠
- p.Asp224His Single submitter ⚠
- p.Cys90Ser Single submitter ⚠
- p.Gln122Arg Single submitter ⚠
- p.Glu200Gln Single submitter ⚠
- p.Glu202Gln Single submitter ⚠
- p.Glu24Ala Single submitter ⚠
- p.Gly66Asp Single submitter ⚠
- p.Gly89Arg Single submitter ⚠
- p.His102Gln Single submitter ⚠
- p.Ile84Leu Single submitter ⚠
- p.Leu6Pro Single submitter ⚠
- p.Leu87Pro Single submitter ⚠
- p.Lys118Arg Single submitter ⚠
- p.Lys134Asn Single submitter ⚠
- p.Met187Ile Single submitter ⚠
- p.Phe116Leu Single submitter ⚠
- p.Phe189Ser Single submitter ⚠
- p.Phe73Ser Single submitter ⚠
- p.Pro105Leu Single submitter ⚠
- p.Pro215Ser Single submitter ⚠
- p.Pro22Arg Single submitter ⚠
- p.Pro31Ser Single submitter ⚠
- p.Ser70Gly Single submitter ⚠
- p.Thr143Ala Single submitter ⚠
- p.Thr21Lys Single submitter ⚠
- p.Thr226Met Single submitter ⚠
- p.Tyr126Cys Single submitter ⚠
- p.Tyr169Cys Single submitter ⚠
- p.Tyr176His Single submitter ⚠
- p.Tyr205Cys Single submitter ⚠