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 (14th of september 2026), a total of 1,214 variants are reported in CFTR-France.

422 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
39 variants of varying clinical consequence: when in trans with another CF-causing mutation, can either result in CF or in a CFTR-RD
89 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
38 variants likely benign
58 variants likely pathogenic (including 22 variants likely CF and 28 variants likely CFTR-RD)
89 variants non disease-causing
437 variants of unknown significance (including 41 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