CBY1 — 7 ClinVar variants
All ClinVar germline CBY1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 3 flagged for review →
2 Pathogenic · 5 Uncertain significance
Full CBY1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 3
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 3
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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CBY1 p.Gly49Glu
Uncertain significance
Single submitter
Inborn genetic diseases
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CBY1 p.Thr63Ala
Uncertain significance
Single submitter
Inborn genetic diseases
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CBY1 p.Leu116Val
Uncertain significance
No assertion criteria
prostate cancer
All CBY1 variants
Pathogenic 2
- p.Asn23fs No assertion criteria Joubert syndrome
- p.Gly64_Val65insTer No assertion criteria Joubert syndrome
Uncertain significance 5
- c.-33G>A Single submitter Inborn genetic diseases
- p.Gly49Glu Single submitter Inborn genetic diseases ⚠
- p.Leu36= Single submitter Inborn genetic diseases
- p.Thr63Ala Single submitter Inborn genetic diseases ⚠
- p.Leu116Val No assertion criteria prostate cancer ⚠