CYB5B — 29 ClinVar variants
All ClinVar germline CYB5B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
29 Uncertain significance
Full CYB5B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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.
- CYB5B p.Ala124Val Uncertain significance Single submitter
- CYB5B p.Arg35Leu Uncertain significance Single submitter
- CYB5B p.Asp103Gly Uncertain significance Single submitter
- CYB5B p.Asp112Glu Uncertain significance Single submitter
- CYB5B p.Asp14His Uncertain significance Single submitter
- CYB5B p.Gln18Leu Uncertain significance Single submitter
- CYB5B p.Gly47Ala Uncertain significance Single submitter
- CYB5B p.Ile127Val Uncertain significance Single submitter
- CYB5B p.Ile130Val Uncertain significance Single submitter
- CYB5B p.Leu41Pro Uncertain significance Single submitter
- CYB5B p.Met5Leu Uncertain significance Single submitter
- CYB5B p.Met5Val Uncertain significance Single submitter
- CYB5B p.Pro129Ala Uncertain significance Single submitter
- CYB5B p.Ser2Ala Uncertain significance Single submitter
- CYB5B p.Thr53Ser Uncertain significance Single submitter
- CYB5B p.Val134Leu Uncertain significance Single submitter
- CYB5B p.Val44Leu Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- CYB5B p.Arg141Cys Uncertain significance Single submitter
- CYB5B p.Arg141His Uncertain significance Single submitter
- CYB5B p.Ile130Met Uncertain significance Single submitter
- CYB5B p.Lys34Asn Uncertain significance Single submitter
- CYB5B p.Phe138Leu Uncertain significance Single submitter
- CYB5B p.Pro101Leu Uncertain significance Single submitter
- CYB5B p.Pro106Thr Uncertain significance Single submitter
- CYB5B p.Ser102Gly Uncertain significance Single submitter
- CYB5B p.Ser37Cys Uncertain significance Single submitter
- CYB5B p.Ser75Gly Uncertain significance Single submitter
- CYB5B p.Tyr142Cys Uncertain significance Single submitter
- CYB5B p.Val24Leu Uncertain significance Single submitter
All CYB5B variants
Uncertain significance 29
- p.Ala124Val Single submitter ⚠
- p.Arg141Cys Single submitter ⚠
- p.Arg141His Single submitter ⚠
- p.Arg35Leu Single submitter ⚠
- p.Asp103Gly Single submitter ⚠
- p.Asp112Glu Single submitter ⚠
- p.Asp14His Single submitter ⚠
- p.Gln18Leu Single submitter ⚠
- p.Gly47Ala Single submitter ⚠
- p.Ile127Val Single submitter ⚠
- p.Ile130Met Single submitter ⚠
- p.Ile130Val Single submitter ⚠
- p.Leu41Pro Single submitter ⚠
- p.Lys34Asn Single submitter ⚠
- p.Met5Leu Single submitter ⚠
- p.Met5Val Single submitter ⚠
- p.Phe138Leu Single submitter ⚠
- p.Pro101Leu Single submitter ⚠
- p.Pro106Thr Single submitter ⚠
- p.Pro129Ala Single submitter ⚠
- p.Ser102Gly Single submitter ⚠
- p.Ser2Ala Single submitter ⚠
- p.Ser37Cys Single submitter ⚠
- p.Ser75Gly Single submitter ⚠
- p.Thr53Ser Single submitter ⚠
- p.Tyr142Cys Single submitter ⚠
- p.Val134Leu Single submitter ⚠
- p.Val24Leu Single submitter ⚠
- p.Val44Leu Single submitter ⚠