Sugi Variant

Sugi Variant/CFAP251

CFAP251 — 201 ClinVar variants

All ClinVar germline CFAP251 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 155 flagged for review →

6 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 1 Conflicting · 11 Benign · 27 Likely benign · 150 Uncertain significance

Full CFAP251 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 155

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 96

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 58

The independent predictors disagree with each other — read with care.

All CFAP251 variants

Pathogenic 6

Pathogenic/Likely pathogenic 1

  • p.Glu111Ter Multiple submitters spermatogenic failure 33

Likely pathogenic 5

  • c.-20-2A>C Single submitter spermatogenic failure 33
  • p.Gln129Ter Single submitter spermatogenic failure 33
  • p.Glu63fs Single submitter spermatogenic failure 33
  • p.Gly66fs Single submitter spermatogenic failure 33
  • p.Leu436fs Single submitter spermatogenic failure 33

Conflicting classifications of pathogenicity 1

Benign 11

Likely benign 27

Uncertain significance 150