CFAP276 — 6 ClinVar variants
All ClinVar germline CFAP276 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 4 flagged for review →
1 Likely benign · 5 Uncertain significance
Full CFAP276 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 4
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 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All CFAP276 variants
Likely benign 1
- c.45+725G>T Single submitter
Uncertain significance 5
- p.Arg10Ser Single submitter
- p.Arg46Gln Single submitter ⚠
- p.Gln143Glu Single submitter ⚠
- p.Ile122Asn No assertion criteria ⚠
- p.Lys28Ile No assertion criteria ⚠