CFAP221 — 18 ClinVar variants
All ClinVar germline CFAP221 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 4 flagged for review →
2 Pathogenic · 2 Pathogenic/Likely pathogenic · 1 Likely pathogenic · 1 Benign · 8 Likely benign · 4 Uncertain significance
Full CFAP221 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 2
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 2
The independent predictors disagree with each other — read with care.
All CFAP221 variants
Pathogenic 2
- p.Arg131Ter Single submitter Young syndrome
- p.Lys489fs No assertion criteria Young syndrome
Pathogenic/Likely pathogenic 2
- c.2318+1G>A No assertion criteria Young syndrome
- p.Leu768fs No assertion criteria Young syndrome
Likely pathogenic 1
- p.Asn548fs Single submitter Young syndrome
Benign 1
- p.Val280Ile Single submitter
Likely benign 8
- c.1311+7A>G Single submitter
- c.632-7C>G Single submitter
- p.Arg433Cys Single submitter ⚠
- p.Pro715= Single submitter
- p.Ser529= Single submitter
- p.Ser742Cys Single submitter ⚠
- c.1134-10_1134-9dup No assertion criteria CFAP221-related disorder
- p.Arg516Gln No assertion criteria CFAP221-related disorder
Uncertain significance 4
- c.1025-1G>A Single submitter
- p.Arg36fs Single submitter
- p.Ile567Asn Single submitter ⚠
- p.Leu833Phe Single submitter ⚠