CYB561 — 43 ClinVar variants
All ClinVar germline CYB561 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
2 Pathogenic · 2 Benign · 6 Likely benign · 33 Uncertain significance
Full CYB561 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYB561 p.Ala193Ser Uncertain significance Single submitter
- CYB561 p.Ala214Thr Uncertain significance Single submitter
- CYB561 p.Ala234Gly Uncertain significance Single submitter
- CYB561 p.Ala33Val Uncertain significance Single submitter
- CYB561 p.Ala79Gly Uncertain significance Single submitter
- CYB561 p.Ala79Ser Uncertain significance Single submitter
- CYB561 p.Arg153Trp Uncertain significance Single submitter
- CYB561 p.Arg226Trp Uncertain significance Single submitter
- CYB561 p.Asp107Asn Uncertain significance Single submitter
- CYB561 p.Ile97Val Uncertain significance Single submitter
- CYB561 p.Phe194Cys Uncertain significance Single submitter
- CYB561 p.Phe19Leu Uncertain significance Single submitter
- CYB561 p.Phe93Ser Uncertain significance Single submitter
- CYB561 p.Ser247Gly Uncertain significance Single submitter
- CYB561 p.Thr9Ile Uncertain significance Single submitter
- CYB561 p.Tyr15Phe Uncertain significance Single submitter
- CYB561 p.Val96Leu Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- CYB561 p.Ala104Val Uncertain significance Single submitter
- CYB561 p.Ala115Thr Uncertain significance Single submitter
- CYB561 p.Arg155Cys Uncertain significance Single submitter
- CYB561 p.Arg155His Uncertain significance Single submitter
- CYB561 p.Arg157Cys Uncertain significance Single submitter
- CYB561 p.Arg157Pro Uncertain significance Single submitter
- CYB561 p.Arg226Gln Uncertain significance Single submitter
- CYB561 p.Gly113Ser Uncertain significance Single submitter
- CYB561 p.Gly147Arg Uncertain significance Single submitter
- CYB561 p.Phe140Leu Uncertain significance Single submitter
- CYB561 p.Phe142Leu Uncertain significance Single submitter
- CYB561 p.Phe168Leu Uncertain significance Single submitter
- CYB561 p.Thr243Met Uncertain significance Single submitter
- CYB561 p.Tyr217Cys Uncertain significance Single submitter
- CYB561 p.Val172Met Uncertain significance Single submitter
- CYB561 p.Val17Met Uncertain significance Single submitter
All CYB561 variants
Pathogenic 2
- p.Gly88Arg No assertion criteria orthostatic hypotension 2
- p.Trp44Ter No assertion criteria orthostatic hypotension 2
Benign 2
- c.-13-2648G>A No assertion criteria CYB561-related disorder
- p.Leu69= No assertion criteria CYB561-related disorder
Likely benign 6
Uncertain significance 33
- p.Ala104Val Single submitter ⚠
- p.Ala115Thr Single submitter ⚠
- p.Ala193Ser Single submitter ⚠
- p.Ala214Thr Single submitter ⚠
- p.Ala234Gly Single submitter ⚠
- p.Ala33Val Single submitter ⚠
- p.Ala79Gly Single submitter ⚠
- p.Ala79Ser Single submitter ⚠
- p.Arg153Trp Single submitter ⚠
- p.Arg155Cys Single submitter ⚠
- p.Arg155His Single submitter ⚠
- p.Arg157Cys Single submitter ⚠
- p.Arg157Pro Single submitter ⚠
- p.Arg226Gln Single submitter ⚠
- p.Arg226Trp Single submitter ⚠
- p.Asp107Asn Single submitter ⚠
- p.Gly113Ser Single submitter ⚠
- p.Gly147Arg Single submitter ⚠
- p.Ile97Val Single submitter ⚠
- p.Phe140Leu Single submitter ⚠
- p.Phe142Leu Single submitter ⚠
- p.Phe168Leu Single submitter ⚠
- p.Phe194Cys Single submitter ⚠
- p.Phe19Leu Single submitter ⚠
- p.Phe93Ser Single submitter ⚠
- p.Ser247Gly Single submitter ⚠
- p.Thr243Met Single submitter ⚠
- p.Thr9Ile Single submitter ⚠
- p.Tyr15Phe Single submitter ⚠
- p.Tyr217Cys Single submitter ⚠
- p.Val172Met Single submitter ⚠
- p.Val17Met Single submitter ⚠
- p.Val96Leu Single submitter ⚠