Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912801
rs121912801
CLCN1
0.800 GeneticVariation UNIPROT Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients. 26510092

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

2015
dbSNP: rs121912801
rs121912801
CLCN1
0.800 GeneticVariation UNIPROT ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation. 26096614

2015
dbSNP: rs121912801
rs121912801
CLCN1
0.800 GeneticVariation UNIPROT Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita. 26007199

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

2015
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
0.800 GeneticVariation UNIPROT Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients. 22521272

2012
dbSNP: rs121912801
rs121912801
CLCN1
0.800 GeneticVariation UNIPROT Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita. 22641783

2012
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
dbSNP: rs121912801
rs121912801
CLCN1
0.800 GeneticVariation UNIPROT Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene. 19697366

2010
dbSNP: rs121912801
rs121912801
CLCN1
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs121912801
rs121912801
CLCN1
0.800 GeneticVariation UNIPROT Decrement of compound muscle action potential is related to mutation type in myotonia congenita. 12661046

2003
dbSNP: rs121912801
rs121912801
CLCN1
0.800 GeneticVariation UNIPROT Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation. 10644771

2000
dbSNP: rs121912801
rs121912801
CLCN1
0.800 GeneticVariation UNIPROT "A ""dystrophic"" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene." 11113225

2000
dbSNP: rs121912801
rs121912801
CLCN1
0.800 GeneticVariation UNIPROT Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online. 10215406

1998
dbSNP: rs121912801
rs121912801
CLCN1
0.800 GeneticVariation UNIPROT ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence. 9736777

1998
dbSNP: rs121912801
rs121912801
CLCN1
0.800 GeneticVariation UNIPROT Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance. 9566422

1998
dbSNP: rs121912801
rs121912801
CLCN1
0.800 GeneticVariation UNIPROT Novel muscle chloride channel mutations and their effects on heterozygous carriers. 8571958

1996
dbSNP: rs121912801
rs121912801
CLCN1
0.800 GeneticVariation UNIPROT Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. 8533761

1995
dbSNP: rs121912801
rs121912801
CLCN1
T 0.800 CausalMutation CLINVAR Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. 8533761

1995
dbSNP: rs121912801
rs121912801
CLCN1
0.800 GeneticVariation UNIPROT Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel. 8845168

1995
dbSNP: rs121912801
rs121912801
CLCN1
0.800 GeneticVariation UNIPROT Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion. 7981681

1994
dbSNP: rs121912801
rs121912801
CLCN1
0.800 GeneticVariation UNIPROT Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. 7951242

1994
dbSNP: rs121912801
rs121912801
CLCN1
T 0.800 CausalMutation CLINVAR Genomic organization of the human muscle chloride channel CIC-1 and analysis of novel mutations leading to Becker-type myotonia. 7951242

1994
dbSNP: rs121912801
rs121912801
CLCN1
0.800 GeneticVariation UNIPROT Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. 7874130

1994