Sugi Variant

Sugi Variant/CFAP44

CFAP44 — 201 ClinVar variants

All ClinVar germline CFAP44 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 125 flagged for review →

8 Pathogenic · 7 Likely pathogenic · 7 Conflicting · 19 Benign · 2 Benign/Likely benign · 44 Likely benign · 114 Uncertain significance

Full CFAP44 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 125

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 3

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

Predictors lean, ClinVar uncertain 61

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

Predictors split 61

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

All CFAP44 variants

Pathogenic 8

Likely pathogenic 7

  • c.408-2A>T Single submitter spermatogenic failure 20
  • c.5078-2A>G Single submitter spermatogenic failure 20
  • p.Arg224Ter Single submitter spermatogenic failure 20
  • p.Gly435Ter Single submitter spermatogenic failure 20
  • p.Leu873fs Single submitter CFAP44-related disorder
  • p.Met938fs Single submitter spermatogenic failure 20
  • p.Glu1848fs No assertion criteria CFAP44-related disorder

Conflicting classifications of pathogenicity 7

Benign 19

Benign/Likely benign 2

Likely benign 44

Uncertain significance 114