CYBRD1 — 37 ClinVar variants
All ClinVar germline CYBRD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
1 Benign · 6 Likely benign · 30 Uncertain significance
Full CYBRD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CYBRD1 p.Ala114Val Uncertain significance Single submitter
- CYBRD1 p.Ala213Asp Uncertain significance Single submitter
- CYBRD1 p.Arg273Lys Uncertain significance Single submitter
- CYBRD1 p.Arg283Lys Uncertain significance Single submitter
- CYBRD1 p.Asn115Asp Uncertain significance Single submitter
- CYBRD1 p.Asn256Ser Uncertain significance Single submitter
- CYBRD1 p.Asp258Glu Uncertain significance Single submitter
- CYBRD1 p.Asp278Glu Uncertain significance Single submitter
- CYBRD1 p.Glu263Gly Uncertain significance Single submitter
- CYBRD1 p.Ile61Val Uncertain significance Single submitter
- CYBRD1 p.Ile98Val Uncertain significance Single submitter
- CYBRD1 p.Leu96Phe Uncertain significance Single submitter
- CYBRD1 p.Lys228Glu Uncertain significance Single submitter
- CYBRD1 p.Met176Thr Uncertain significance Single submitter
- CYBRD1 p.Ser118Asn Uncertain significance Single submitter
- CYBRD1 p.Thr179Ala Uncertain significance Single submitter
- CYBRD1 p.Trp49Cys Uncertain significance Single submitter
- CYBRD1 p.Tyr6His Uncertain significance Single submitter
- CYBRD1 p.Val104Met Uncertain significance Single submitter
- CYBRD1 p.Val110Asp Uncertain significance Single submitter
- CYBRD1 p.Val123Ala Uncertain significance Single submitter
- CYBRD1 p.Val201Ile Uncertain significance Single submitter
- CYBRD1 p.Val59Ile Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All CYBRD1 variants
Benign 1
- p.Ser266Asn Multiple submitters
Likely benign 6
- p.Gln243Glu Single submitter
- p.Ile234Leu Single submitter
- p.Leu155= Single submitter
- p.Pro148= Single submitter
- p.Pro222= Single submitter
- p.Ser15Leu No assertion criteria CYBRD1-related disorder
Uncertain significance 30
- c.19+1G>T Single submitter CYBRD1-related disorder
- p.Ala114Val Single submitter ⚠
- p.Ala213Asp Single submitter ⚠
- p.Ala93Val Single submitter
- p.Arg273Lys Single submitter ⚠
- p.Arg283Lys Single submitter ⚠
- p.Arg35Gly Single submitter
- p.Asn115Asp Single submitter ⚠
- p.Asn256Ser Single submitter ⚠
- p.Asp258Glu Single submitter ⚠
- p.Asp278Glu Single submitter ⚠
- p.Glu263Gly Single submitter ⚠
- p.Ile61Val Single submitter ⚠
- p.Ile98Val Single submitter ⚠
- p.Leu96Phe Single submitter ⚠
- p.Lys228Glu Single submitter ⚠
- p.Met176Ile Single submitter ⚠
- p.Met176Thr Single submitter ⚠
- p.Phe58Cys Single submitter ⚠
- p.Phe60Leu Single submitter ⚠
- p.Pro195Leu Single submitter ⚠
- p.Ser118Asn Single submitter ⚠
- p.Thr179Ala Single submitter ⚠
- p.Trp49Cys Single submitter ⚠
- p.Tyr6His Single submitter ⚠
- p.Val104Met Single submitter ⚠
- p.Val110Asp Single submitter ⚠
- p.Val123Ala Single submitter ⚠
- p.Val201Ile Single submitter ⚠
- p.Val59Ile Single submitter ⚠