Basic statistics:



The CFTR-France currently has 5893 individuals recorded, including:

Patients statistics and pathologies


Pathology Nb Details
Asymptomatic compound heterozygote 193-
Pending 58-
Fetal bowel anomalies 74-
CFTR-RD 1933
  • 21  Aquagenic palmoplantar keratoderma
  • 230  Bronchiectasis
  • 1072  CBAVD
  • 46  CRS-NP
  • 253  Other
  • 311  Pancreatitis
CF 3347-
Pending non-CF 15-
Pending (NBS) 273-
Variant class Number
Total 1011
VUS378
likely pathogenic46
disease-causing493
non disease-causing83
likely benign11