CYB5R2 — 62 ClinVar variants
All ClinVar germline CYB5R2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
2 Likely benign · 60 Uncertain significance
Full CYB5R2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYB5R2 p.Ala154Asp Uncertain significance Single submitter
- CYB5R2 p.Ala184Thr Uncertain significance Single submitter
- CYB5R2 p.Ala201Val Uncertain significance Single submitter
- CYB5R2 p.Ala230Thr Uncertain significance Single submitter
- CYB5R2 p.Ala241Val Uncertain significance Single submitter
- CYB5R2 p.Arg123Cys Uncertain significance Single submitter
- CYB5R2 p.Arg176Gly Uncertain significance Single submitter
- CYB5R2 p.Arg202Lys Uncertain significance Single submitter
- CYB5R2 p.Arg33Trp Uncertain significance Single submitter
- CYB5R2 p.Asn185Tyr Uncertain significance Single submitter
- CYB5R2 p.Asn31Asp Uncertain significance Single submitter
- CYB5R2 p.Asp206Asn Uncertain significance Single submitter
- CYB5R2 p.Asp271Asn Uncertain significance Single submitter
- CYB5R2 p.Gln138His Uncertain significance Single submitter
- CYB5R2 p.Gln256Arg Uncertain significance Single submitter
- CYB5R2 p.Gln256Glu Uncertain significance Single submitter
- CYB5R2 p.Glu235Gln Uncertain significance Single submitter
- CYB5R2 p.Glu24Gly Uncertain significance Single submitter
- CYB5R2 p.Gly112Ala Uncertain significance Single submitter
- CYB5R2 p.Gly112Arg Uncertain significance Single submitter
- CYB5R2 p.Gly119Arg Uncertain significance Single submitter
- CYB5R2 p.Gly151Glu Uncertain significance Single submitter
- CYB5R2 p.Gly156Ser Uncertain significance Single submitter
- CYB5R2 p.Gly226Val Uncertain significance Single submitter
- CYB5R2 p.His260Tyr Uncertain significance Single submitter
- CYB5R2 p.Ile233Asn Uncertain significance Single submitter
- CYB5R2 p.Ile9Val Uncertain significance Single submitter
- CYB5R2 p.Leu245Phe Uncertain significance Single submitter
- CYB5R2 p.Lys110Arg Uncertain significance Single submitter
- CYB5R2 p.Lys171Arg Uncertain significance Single submitter
- CYB5R2 p.Met272Ile Uncertain significance Single submitter
- CYB5R2 p.Pro120Thr Uncertain significance Single submitter
- CYB5R2 p.Pro14Arg Uncertain significance Single submitter
- CYB5R2 p.Pro251Leu Uncertain significance Single submitter
- CYB5R2 p.Pro253Ala Uncertain significance Single submitter
- CYB5R2 p.Pro42Arg Uncertain significance Single submitter
- CYB5R2 p.Pro42Leu Uncertain significance Single submitter
- CYB5R2 p.Ser225Leu Uncertain significance Single submitter
- CYB5R2 p.Ser41Leu Uncertain significance Single submitter
- CYB5R2 p.Thr103Asn Uncertain significance Single submitter
- CYB5R2 p.Thr10Asn Uncertain significance Single submitter
- CYB5R2 p.Thr114Ile Uncertain significance Single submitter
- CYB5R2 p.Thr139Ala Uncertain significance Single submitter
- CYB5R2 p.Thr229Ile Uncertain significance Single submitter
- CYB5R2 p.Trp221Cys Uncertain significance Single submitter
- CYB5R2 p.Val193Leu Uncertain significance Single submitter
- CYB5R2 p.Val92Ala Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- CYB5R2 p.Ala258Val Uncertain significance Single submitter
- CYB5R2 p.Arg194Lys Uncertain significance Single submitter
- CYB5R2 p.Asn31Ser Uncertain significance Single submitter
- CYB5R2 p.Asp13Val Uncertain significance Single submitter
- CYB5R2 p.Asp172Gly Uncertain significance Single submitter
- CYB5R2 p.Ile60Thr Uncertain significance Single submitter
- CYB5R2 p.Leu237Val Uncertain significance Single submitter
- CYB5R2 p.Leu48Ile Uncertain significance Single submitter
- CYB5R2 p.Phe117Leu Uncertain significance Single submitter
- CYB5R2 p.Phe125Leu Uncertain significance Single submitter
- CYB5R2 p.Phe227Leu Uncertain significance Single submitter
- CYB5R2 p.Pro40Ala Uncertain significance Single submitter
- CYB5R2 p.Thr70Ser Uncertain significance Single submitter
All CYB5R2 variants
Likely benign 2
- p.Gly220Asp Single submitter
- p.Ile219Val Single submitter
Uncertain significance 60
- p.Ala154Asp Single submitter ⚠
- p.Ala184Thr Single submitter ⚠
- p.Ala201Val Single submitter ⚠
- p.Ala230Thr Single submitter ⚠
- p.Ala241Val Single submitter ⚠
- p.Ala258Val Single submitter ⚠
- p.Arg123Cys Single submitter ⚠
- p.Arg176Gly Single submitter ⚠
- p.Arg194Lys Single submitter ⚠
- p.Arg202Lys Single submitter ⚠
- p.Arg33Trp Single submitter ⚠
- p.Asn185Tyr Single submitter ⚠
- p.Asn31Asp Single submitter ⚠
- p.Asn31Ser Single submitter ⚠
- p.Asp13Val Single submitter ⚠
- p.Asp172Gly Single submitter ⚠
- p.Asp206Asn Single submitter ⚠
- p.Asp271Asn Single submitter ⚠
- p.Gln138His Single submitter ⚠
- p.Gln256Arg Single submitter ⚠
- p.Gln256Glu Single submitter ⚠
- p.Glu235Gln Single submitter ⚠
- p.Glu24Gly Single submitter ⚠
- p.Gly112Ala Single submitter ⚠
- p.Gly112Arg Single submitter ⚠
- p.Gly119Arg Single submitter ⚠
- p.Gly151Glu Single submitter ⚠
- p.Gly156Ser Single submitter ⚠
- p.Gly226Val Single submitter ⚠
- p.His260Tyr Single submitter ⚠
- p.Ile233Asn Single submitter ⚠
- p.Ile60Thr Single submitter ⚠
- p.Ile9Val Single submitter ⚠
- p.Leu237Val Single submitter ⚠
- p.Leu245Phe Single submitter ⚠
- p.Leu48Ile Single submitter ⚠
- p.Lys110Arg Single submitter ⚠
- p.Lys171Arg Single submitter ⚠
- p.Met272Ile Single submitter ⚠
- p.Phe117Leu Single submitter ⚠
- p.Phe125Leu Single submitter ⚠
- p.Phe227Leu Single submitter ⚠
- p.Pro120Thr Single submitter ⚠
- p.Pro14Arg Single submitter ⚠
- p.Pro251Leu Single submitter ⚠
- p.Pro253Ala Single submitter ⚠
- p.Pro40Ala Single submitter ⚠
- p.Pro42Arg Single submitter ⚠
- p.Pro42Leu Single submitter ⚠
- p.Ser225Leu Single submitter ⚠
- p.Ser41Leu Single submitter ⚠
- p.Thr103Asn Single submitter ⚠
- p.Thr10Asn Single submitter ⚠
- p.Thr114Ile Single submitter ⚠
- p.Thr139Ala Single submitter ⚠
- p.Thr229Ile Single submitter ⚠
- p.Thr70Ser Single submitter ⚠
- p.Trp221Cys Single submitter ⚠
- p.Val193Leu Single submitter ⚠
- p.Val92Ala Single submitter ⚠