Gene: CLCN1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356703
rs80356703
CLCN1
A 0.800 CausalMutation CLINVAR Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature. 27415035

2017
dbSNP: rs149729531
rs149729531
CLCN1
G 0.800 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs797045032
rs797045032
CLCN1
TC 0.800 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs121912801
rs121912801
CLCN1
T 0.800 CausalMutation CLINVAR Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations. 26502825

2015
dbSNP: rs121912801
rs121912801
CLCN1
T 0.800 CausalMutation CLINVAR Imaging alterations in skeletal muscle channelopathies: a study in 15 patients. 27199537

2015
dbSNP: rs746125212
rs746125212
CLCN1
A 0.800 CausalMutation CLINVAR Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita. 25065301

2015
dbSNP: rs748639603
rs748639603
CLCN1
G 0.800 GeneticVariation CLINVAR Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations. 26502825

2015
dbSNP: rs797045032
rs797045032
CLCN1
TC 0.800 CausalMutation CLINVAR Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita. 26007199

2015
dbSNP: rs146457619
rs146457619
CLCN1
G 0.800 CausalMutation CLINVAR Chloride channels in myotonia congenita assessed by velocity recovery cycles. 24037712

2014
dbSNP: rs150885084
rs150885084
CLCN1
A 0.800 CausalMutation CLINVAR Chloride channels in myotonia congenita assessed by velocity recovery cycles. 24037712

2014
dbSNP: rs80356692
rs80356692
CLCN1
A 0.800 CausalMutation CLINVAR Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance. 23893571

2014
dbSNP: rs80356692
rs80356692
CLCN1
A 0.800 CausalMutation CLINVAR Chloride channels in myotonia congenita assessed by velocity recovery cycles. 24037712

2014
dbSNP: rs121912799
rs121912799
CLCN1
G 0.800 CausalMutation CLINVAR A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. 23739125

2013
dbSNP: rs146457619
rs146457619
CLCN1
G 0.800 CausalMutation CLINVAR CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. 24349310

2013
dbSNP: rs149729531
rs149729531
CLCN1
G 0.800 CausalMutation CLINVAR Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes. 23933576

2013
dbSNP: rs149729531
rs149729531
CLCN1
G 0.800 CausalMutation CLINVAR Clinical evaluation and cellular electrophysiology of a recessive CLCN1 patient. 24304580

2013
dbSNP: rs746125212
rs746125212
CLCN1
A 0.800 CausalMutation CLINVAR A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. 23739125

2013
dbSNP: rs774396430
rs774396430
CLCN1
A 0.800 CausalMutation CLINVAR Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias. 23810313

2013
dbSNP: rs774396430
rs774396430
CLCN1
A 0.800 CausalMutation CLINVAR Prevalence study of genetically defined skeletal muscle channelopathies in England. 23516313

2013
dbSNP: rs797045032
rs797045032
CLCN1
TC 0.800 CausalMutation CLINVAR Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes. 23933576

2013
dbSNP: rs797045032
rs797045032
CLCN1
TC 0.800 CausalMutation CLINVAR CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. 24349310

2013
dbSNP: rs797045032
rs797045032
CLCN1
TC 0.800 CausalMutation CLINVAR Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita. 22921319

2013
dbSNP: rs797045032
rs797045032
CLCN1
TC 0.800 CausalMutation CLINVAR A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. 23739125

2013
dbSNP: rs80356703
rs80356703
CLCN1
A 0.800 CausalMutation CLINVAR A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. 23739125

2013
dbSNP: rs121912801
rs121912801
CLCN1
T 0.800 CausalMutation CLINVAR Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene. 22094069

2012