Variant list

CFTR-France Variant List History

Please click below for a file containing the list of CFTR-France variants and their classification.

In the most recent file (6th of october 2025), a total of 1,200 variants are reported in CFTR-France.

421 variants CF-causing: when in trans with another CF-causing mutation, will result in CF
42 variants CFTR-RD causing: when in trans with a CF-causing mutation, will result in CFTR-RD such as chronic pancreatitis, bronchiectasis, CRS-NP (chronic rhinosinusitis with or without nasal polyposis) or CBAVD (congenital absence of vas deferens), according to Bombieri C et al., 2011
38 variants of varying clinical consequence: when in trans with another CF-causing mutation, can either result in CF or in a CFTR-RD
87 variants disease causing (CF or CFTR-RD): cause a phenotype but as they were never found in trans with a CF-causing mutation, we can't associate them with CF or CFTR-RD
12 variants likely benign
54 variants likely pathogenic (including 21 variants likely CF and 25 variants likely CFTR-RD)
87 variants non disease-causing
459 variants of unknown significance (including 32 VUS non-CF)

**Citing CFTR-France**

Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C.
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. PMID: 28603918