Gene: CFTR ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78655421
rs78655421
CFTR
A 0.880 CausalMutation CLINVAR The relative frequency of CFTR mutation classes in European patients with cystic fibrosis. 24440181

2014
dbSNP: rs78655421
rs78655421
CFTR
A 0.880 CausalMutation CLINVAR Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice. 18456578

2008
dbSNP: rs78655421
rs78655421
CFTR
A 0.880 CausalMutation CLINVAR Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. 19092437

2008
dbSNP: rs78655421
rs78655421
CFTR
A 0.880 CausalMutation CLINVAR Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. 15371902

2005
dbSNP: rs78655421
rs78655421
CFTR
A 0.880 CausalMutation CLINVAR Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C. 11491164

2001
dbSNP: rs78655421
rs78655421
CFTR
A 0.880 CausalMutation CLINVAR A mutation in CFTR produces different phenotypes depending on chromosomal background. 7506096

1993
dbSNP: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Distribution of CFTR mutations in the Czech population: positive impact of integrated clinical and laboratory expertise, detection of novel/de novo alleles and relevance for related/derived populations. 23276700

2013
dbSNP: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens. 21520337

2011
dbSNP: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Association of cystic fibrosis genetic modifiers with congenital bilateral absence of the vas deferens. 20100616

2010
dbSNP: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Cystic fibrosis transmembrane conductance regulator mutations in azoospermic and oligospermic men and their partners. 20021716

2009
dbSNP: rs191456345
rs191456345
CFTR
G 0.800 GeneticVariation CLINVAR To date, R258G has only been found in six patients: a French congenital bilateral absence of vas deferens patient, reported in 1995 and five unrelated subjects from our cohort of non-CF patients, described here. 19810821

2009
dbSNP: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of the vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders. 17975025

2007
dbSNP: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling. 17329263

2007
dbSNP: rs191456345
rs191456345
CFTR
G 0.800 GeneticVariation CLINVAR Molecular characterization of the cystic fibrosis transmembrane conductance regulator gene in congenital absence of the vas deferens. 17413420

2007
dbSNP: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening. 16980811

2006
dbSNP: rs191456345
rs191456345
CFTR
G 0.800 GeneticVariation CLINVAR Rescue of DeltaF508 and other misprocessed CFTR mutants by a novel quinazoline compound. 16196493

2006
dbSNP: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Are p.I148T, p.R74W and p.D1270N cystic fibrosis causing mutations? 15287992

2004
dbSNP: rs191456345
rs191456345
CFTR
G 0.800 GeneticVariation CLINVAR Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. 10875853

2000
dbSNP: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online. 10200050

1998
dbSNP: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I). 9521595

1998
dbSNP: rs151048781
rs151048781
CFTR
C 0.800 CausalMutation CLINVAR Cystic fibrosis in Lebanon: distribution of CFTR mutations among Arab communities. 9254864

1997
dbSNP: rs191456345
rs191456345
CFTR
G 0.800 GeneticVariation CLINVAR Disease-associated mutations in cytoplasmic loops 1 and 2 of cystic fibrosis transmembrane conductance regulator impede processing or opening of the channel. 9305991

1997
dbSNP: rs191456345
rs191456345
CFTR
G 0.800 GeneticVariation CLINVAR Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients. 7529962

1995
dbSNP: rs113993958
rs113993958
CFTR
C 0.800 CausalMutation CLINVAR

dbSNP: rs121908752
rs121908752
CFTR
G 0.800 CausalMutation CLINVAR