CYB5RL — 52 ClinVar variants
All ClinVar germline CYB5RL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
1 Likely benign · 51 Uncertain significance
Full CYB5RL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYB5RL p.Ala14Gly Uncertain significance Single submitter
- CYB5RL p.Ala305Ser Uncertain significance Single submitter
- CYB5RL p.Asp205Gly Uncertain significance Single submitter
- CYB5RL p.Asp9Asn Uncertain significance Single submitter
- CYB5RL p.Gly101Glu Uncertain significance Single submitter
- CYB5RL p.Gly117Glu Uncertain significance Single submitter
- CYB5RL p.Ile199Ser Uncertain significance Single submitter
- CYB5RL p.Leu268Met Uncertain significance Single submitter
- CYB5RL p.Lys296Glu Uncertain significance Single submitter
- CYB5RL p.Met2Thr Uncertain significance Single submitter
- CYB5RL p.Pro20Ser Uncertain significance Single submitter
- CYB5RL p.Ser153Phe Uncertain significance Single submitter
- CYB5RL p.Thr11Ser Uncertain significance Single submitter
- CYB5RL p.Thr89Ser Uncertain significance Single submitter
- CYB5RL p.Trp167Arg Uncertain significance Single submitter
- CYB5RL p.Trp167Cys Uncertain significance Single submitter
Predictors split 36
The independent predictors disagree with each other — read with care.
- CYB5RL p.Ala127Thr Uncertain significance Single submitter
- CYB5RL p.Ala292Val Uncertain significance Single submitter
- CYB5RL p.Arg108Trp Uncertain significance Single submitter
- CYB5RL p.Arg154Pro Uncertain significance Single submitter
- CYB5RL p.Arg241Gly Uncertain significance Single submitter
- CYB5RL p.Arg241His Uncertain significance Single submitter
- CYB5RL p.Arg61Cys Uncertain significance Single submitter
- CYB5RL p.Arg94His Uncertain significance Single submitter
- CYB5RL p.Asp163Glu Uncertain significance Single submitter
- CYB5RL p.Cys289Gly Uncertain significance Single submitter
- CYB5RL p.Glu157Val Uncertain significance Single submitter
- CYB5RL p.Glu210Lys Uncertain significance Single submitter
- CYB5RL p.Glu6Lys Uncertain significance Single submitter
- CYB5RL p.Gly192Ser Uncertain significance Single submitter
- CYB5RL p.Gly30Ser Uncertain significance Single submitter
- CYB5RL p.Ile131Phe Uncertain significance Single submitter
- CYB5RL p.Ile144Val Uncertain significance Single submitter
- CYB5RL p.Leu24Phe Uncertain significance Single submitter
- CYB5RL p.Lys55Asn Uncertain significance Single submitter
- CYB5RL p.Phe222Cys Uncertain significance Single submitter
- CYB5RL p.Pro100Leu Uncertain significance Single submitter
- CYB5RL p.Pro20Leu Uncertain significance Single submitter
- CYB5RL p.Pro256Leu Uncertain significance Single submitter
- CYB5RL p.Ser132Gly Uncertain significance Single submitter
- CYB5RL p.Ser132Thr Uncertain significance Single submitter
- CYB5RL p.Ser250Ile Uncertain significance Single submitter
- CYB5RL p.Ser291Leu Uncertain significance Single submitter
- CYB5RL p.Ser34Leu Uncertain significance Single submitter
- CYB5RL p.Ser34Pro Uncertain significance Single submitter
- CYB5RL p.Tyr139Cys Uncertain significance Single submitter
- CYB5RL p.Tyr176Cys Uncertain significance Single submitter
- CYB5RL p.Tyr176His Uncertain significance Single submitter
- CYB5RL p.Tyr41Cys Uncertain significance Single submitter
- CYB5RL p.Tyr93Ser Uncertain significance Single submitter
- CYB5RL p.Val161Ala Likely benign Single submitter
- CYB5RL p.Val216Gly Uncertain significance Single submitter
All CYB5RL variants
Likely benign 1
- p.Val161Ala Single submitter ⚠
Uncertain significance 51
- p.Ala127Thr Single submitter ⚠
- p.Ala14Gly Single submitter ⚠
- p.Ala292Val Single submitter ⚠
- p.Ala305Ser Single submitter ⚠
- p.Arg108Trp Single submitter ⚠
- p.Arg154Pro Single submitter ⚠
- p.Arg241Gly Single submitter ⚠
- p.Arg241His Single submitter ⚠
- p.Arg61Cys Single submitter ⚠
- p.Arg94His Single submitter ⚠
- p.Asp163Glu Single submitter ⚠
- p.Asp205Gly Single submitter ⚠
- p.Asp9Asn Single submitter ⚠
- p.Cys289Gly Single submitter ⚠
- p.Glu157Val Single submitter ⚠
- p.Glu210Lys Single submitter ⚠
- p.Glu6Lys Single submitter ⚠
- p.Gly101Glu Single submitter ⚠
- p.Gly117Glu Single submitter ⚠
- p.Gly192Ser Single submitter ⚠
- p.Gly30Ser Single submitter ⚠
- p.Ile131Phe Single submitter ⚠
- p.Ile144Val Single submitter ⚠
- p.Ile199Ser Single submitter ⚠
- p.Leu24Phe Single submitter ⚠
- p.Leu268Met Single submitter ⚠
- p.Lys296Glu Single submitter ⚠
- p.Lys55Asn Single submitter ⚠
- p.Met2Thr Single submitter ⚠
- p.Phe222Cys Single submitter ⚠
- p.Pro100Leu Single submitter ⚠
- p.Pro20Leu Single submitter ⚠
- p.Pro20Ser Single submitter ⚠
- p.Pro256Leu Single submitter ⚠
- p.Ser132Gly Single submitter ⚠
- p.Ser132Thr Single submitter ⚠
- p.Ser153Phe Single submitter ⚠
- p.Ser250Ile Single submitter ⚠
- p.Ser291Leu Single submitter ⚠
- p.Ser34Leu Single submitter ⚠
- p.Ser34Pro Single submitter ⚠
- p.Thr11Ser Single submitter ⚠
- p.Thr89Ser Single submitter ⚠
- p.Trp167Arg Single submitter ⚠
- p.Trp167Cys Single submitter ⚠
- p.Tyr139Cys Single submitter ⚠
- p.Tyr176Cys Single submitter ⚠
- p.Tyr176His Single submitter ⚠
- p.Tyr41Cys Single submitter ⚠
- p.Tyr93Ser Single submitter ⚠
- p.Val216Gly Single submitter ⚠