CYB5R1 — 47 ClinVar variants
All ClinVar germline CYB5R1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
1 Likely benign · 46 Uncertain significance
Full CYB5R1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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.
- CYB5R1 p.Ala176Val Uncertain significance Single submitter
- CYB5R1 p.Asp111Ala Uncertain significance Single submitter
- CYB5R1 p.Cys208Arg Uncertain significance Single submitter
- CYB5R1 p.Gly185Trp Uncertain significance Single submitter
- CYB5R1 p.Gly22Ser Uncertain significance Single submitter
- CYB5R1 p.Gly2Glu Uncertain significance Single submitter
- CYB5R1 p.Ile83Thr Uncertain significance Single submitter
- CYB5R1 p.Leu153Pro Uncertain significance Single submitter
- CYB5R1 p.Leu17Val Uncertain significance Single submitter
- CYB5R1 p.Leu295Arg Uncertain significance Single submitter
- CYB5R1 p.Leu77Pro Uncertain significance Single submitter
- CYB5R1 p.Lys62Asn Uncertain significance Single submitter
- CYB5R1 p.Met181Ile Uncertain significance Single submitter
- CYB5R1 p.Phe125Ser Uncertain significance Single submitter
- CYB5R1 p.Pro190Ser Uncertain significance Single submitter
- CYB5R1 p.Pro7Ser Uncertain significance Single submitter
- CYB5R1 p.Val116Ala Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- CYB5R1 p.Ala213Gly Uncertain significance Single submitter
- CYB5R1 p.Arg147Gln Uncertain significance Single submitter
- CYB5R1 p.Arg174Gln Uncertain significance Single submitter
- CYB5R1 p.Arg196Trp Uncertain significance Single submitter
- CYB5R1 p.Arg223Trp Uncertain significance Single submitter
- CYB5R1 p.Arg232Cys Uncertain significance Single submitter
- CYB5R1 p.Arg232His Uncertain significance Single submitter
- CYB5R1 p.Arg263Trp Uncertain significance Single submitter
- CYB5R1 p.Arg302Gln Uncertain significance Single submitter
- CYB5R1 p.Asn214Ser Uncertain significance Single submitter
- CYB5R1 p.Asn60Thr Uncertain significance Single submitter
- CYB5R1 p.Asp260Asn Uncertain significance Single submitter
- CYB5R1 p.Asp272Ala Uncertain significance Single submitter
- CYB5R1 p.Asp272Tyr Uncertain significance Single submitter
- CYB5R1 p.Glu145Gln Uncertain significance Single submitter
- CYB5R1 p.Glu217Gly Uncertain significance Single submitter
- CYB5R1 p.Gly296Arg Uncertain significance Single submitter
- CYB5R1 p.Gly296Cys Uncertain significance Single submitter
- CYB5R1 p.His265Arg Uncertain significance Single submitter
- CYB5R1 p.His265Gln Uncertain significance Single submitter
- CYB5R1 p.Ile163Val Uncertain significance Single submitter
- CYB5R1 p.Ile89Thr Uncertain significance Single submitter
- CYB5R1 p.Lys124Thr Uncertain significance Single submitter
- CYB5R1 p.Met283Val Uncertain significance Single submitter
- CYB5R1 p.Pro171Ser Uncertain significance Single submitter
- CYB5R1 p.Pro246Ser Uncertain significance Single submitter
- CYB5R1 p.Thr156Pro Uncertain significance Single submitter
- CYB5R1 p.Thr189Ala Uncertain significance Single submitter
- CYB5R1 p.Tyr109Cys Uncertain significance Single submitter
All CYB5R1 variants
Likely benign 1
- p.Glu105= Single submitter
Uncertain significance 46
- p.Ala176Val Single submitter ⚠
- p.Ala213Gly Single submitter ⚠
- p.Arg147Gln Single submitter ⚠
- p.Arg174Gln Single submitter ⚠
- p.Arg196Trp Single submitter ⚠
- p.Arg223Trp Single submitter ⚠
- p.Arg232Cys Single submitter ⚠
- p.Arg232His Single submitter ⚠
- p.Arg263Trp Single submitter ⚠
- p.Arg302Gln Single submitter ⚠
- p.Asn214Ser Single submitter ⚠
- p.Asn60Thr Single submitter ⚠
- p.Asp111Ala Single submitter ⚠
- p.Asp260Asn Single submitter ⚠
- p.Asp272Ala Single submitter ⚠
- p.Asp272Tyr Single submitter ⚠
- p.Cys208Arg Single submitter ⚠
- p.Glu145Gln Single submitter ⚠
- p.Glu217Gly Single submitter ⚠
- p.Gly185Trp Single submitter ⚠
- p.Gly22Ser Single submitter ⚠
- p.Gly296Arg Single submitter ⚠
- p.Gly296Cys Single submitter ⚠
- p.Gly2Glu Single submitter ⚠
- p.His265Arg Single submitter ⚠
- p.His265Gln Single submitter ⚠
- p.Ile163Val Single submitter ⚠
- p.Ile83Thr Single submitter ⚠
- p.Ile89Thr Single submitter ⚠
- p.Leu153Pro Single submitter ⚠
- p.Leu17Val Single submitter ⚠
- p.Leu295Arg Single submitter ⚠
- p.Leu77Pro Single submitter ⚠
- p.Lys124Thr Single submitter ⚠
- p.Lys62Asn Single submitter ⚠
- p.Met181Ile Single submitter ⚠
- p.Met283Val Single submitter ⚠
- p.Phe125Ser Single submitter ⚠
- p.Pro171Ser Single submitter ⚠
- p.Pro190Ser Single submitter ⚠
- p.Pro246Ser Single submitter ⚠
- p.Pro7Ser Single submitter ⚠
- p.Thr156Pro Single submitter ⚠
- p.Thr189Ala Single submitter ⚠
- p.Tyr109Cys Single submitter ⚠
- p.Val116Ala Single submitter ⚠