CYB561D2 — 19 ClinVar variants
All ClinVar germline CYB561D2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
2 Likely benign · 17 Uncertain significance
Full CYB561D2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYB561D2 p.Ala131Thr Uncertain significance Single submitter
- CYB561D2 p.Ala153Val Uncertain significance Single submitter
- CYB561D2 p.Ala18Thr Uncertain significance Single submitter
- CYB561D2 p.Ala195Gly Uncertain significance Single submitter
- CYB561D2 p.Ala195Pro Uncertain significance Single submitter
- CYB561D2 p.Arg119Leu Uncertain significance Single submitter
- CYB561D2 p.Arg149Gln Uncertain significance Single submitter
- CYB561D2 p.Arg79Gln Uncertain significance Single submitter
- CYB561D2 p.Arg84Cys Uncertain significance Single submitter
- CYB561D2 p.Cys85Tyr Uncertain significance Single submitter
- CYB561D2 p.Gln134His Uncertain significance Single submitter
- CYB561D2 p.His107Gln Uncertain significance Single submitter
- CYB561D2 p.Ile105Met Uncertain significance Single submitter
- CYB561D2 p.Leu73Val Uncertain significance Single submitter
- CYB561D2 p.Tyr216Phe Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All CYB561D2 variants
Likely benign 2
- p.Arg119Trp Single submitter
- p.Gly112= Single submitter
Uncertain significance 17
- p.Ala131Thr Single submitter ⚠
- p.Ala153Val Single submitter ⚠
- p.Ala18Thr Single submitter ⚠
- p.Ala195Gly Single submitter ⚠
- p.Ala195Pro Single submitter ⚠
- p.Arg119Leu Single submitter ⚠
- p.Arg149Gln Single submitter ⚠
- p.Arg79Gln Single submitter ⚠
- p.Arg84Cys Single submitter ⚠
- p.Cys85Tyr Single submitter ⚠
- p.Gln134His Single submitter ⚠
- p.His107Gln Single submitter ⚠
- p.Ile105Met Single submitter ⚠
- p.Leu73Val Single submitter ⚠
- p.Leu95Pro Single submitter ⚠
- p.Pro144Leu Single submitter
- p.Tyr216Phe Single submitter ⚠