Basic statistics:



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

Patients stats

Patients statistics and pathologies


Pathology Nb Details
Pending 58-
Pending (NBS) 273-
Pending non-CF 15-
CFTR-RD 1933
  • 21  Aquagenic palmoplantar keratoderma
  • 230  Bronchiectasis
  • 1072  CBAVD
  • 46  CRS-NP
  • 253  Other
  • 311  Pancreatitis
CF 3347-
Fetal bowel anomalies 74-
Asymptomatic compound heterozygote 193-
Created with Highcharts 4.1.6CFTR-RD2025-04-05Aquagenic palmoplantar keratoderma: 1.1 %Bronchiectasis: 11.9 %CBAVD: 55.5 %CRS-NP: 2.4 %Other: 13.1 %Pancreatitis: 16.1 %Highcharts.com

Variants classification stats

Variant class Number
Total 1011
likely benign8
non disease-causing83
likely pathogenic46
VUS381
disease-causing493
Created with Highcharts 4.1.6Variants-classification2025-04-05likely benign: 0.8 %non disease-causing: 8.2 %likely pathogenic: 4.5 %VUS: 37.7 %disease-causing: 48.8 %Highcharts.com

DNA Alterations

Created with Highcharts 4.1.6Variants-DNA2025-04-05ins: 0.4 %del: 9.4 %indel: 1.8 %subs: 79.0 %dup: 3.4 %repeat: 3.1 %large rearrangement: 2.9 %Highcharts.com

Protein Alterations

Created with Highcharts 4.1.6Variants-Protein2025-04-05missense: 68.3 %stop codon: 14.5 %frameshift: 12.3 %inframe: 1.2 %isosemantic: 3.6 %Highcharts.com