Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356690
rs80356690
CLCN1
0.800 GeneticVariation UNIPROT A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes. 27653901

2016
dbSNP: rs80356690
rs80356690
CLCN1
0.800 GeneticVariation UNIPROT Thomsen disease with ptosis and abnormal MR findings. 27666773

2016
dbSNP: rs80356690
rs80356690
CLCN1
0.800 GeneticVariation UNIPROT ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation. 26096614

2015
dbSNP: rs80356690
rs80356690
CLCN1
G 0.800 CausalMutation CLINVAR Limbic encephalitis with anti-GAD antibodies and Thomsen myotonia: a casual or causal association? 25036107

2014
dbSNP: rs80356690
rs80356690
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: rs80356690
rs80356690
CLCN1
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs80356690
rs80356690
CLCN1
0.800 GeneticVariation UNIPROT Decrement of compound muscle action potential is related to mutation type in myotonia congenita. 12661046

2003
dbSNP: rs80356690
rs80356690
CLCN1
G 0.800 CausalMutation CLINVAR Novel CLCN1 mutations with unique clinical and electrophysiological consequences. 12390967

2002
dbSNP: rs80356690
rs80356690
CLCN1
G 0.800 CausalMutation CLINVAR Fast and slow gating relaxations in the muscle chloride channel CLC-1. 10962018

2000
dbSNP: rs80356690
rs80356690
CLCN1
G 0.800 CausalMutation CLINVAR The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia. 10051520

1999
dbSNP: rs80356690
rs80356690
CLCN1
0.800 GeneticVariation UNIPROT ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence. 9736777

1998
dbSNP: rs80356690
rs80356690
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: rs80356690
rs80356690
CLCN1
0.800 GeneticVariation UNIPROT A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel. 9122265

1997
dbSNP: rs80356690
rs80356690
CLCN1
G 0.800 CausalMutation CLINVAR Myotonia levior is a chloride channel disorder. 7581380

1995
dbSNP: rs80356690
rs80356690
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: rs80356690
rs80356690
CLCN1
0.800 GeneticVariation UNIPROT Myotonia levior is a chloride channel disorder. 7581380

1995
dbSNP: rs80356690
rs80356690
CLCN1
0.800 GeneticVariation UNIPROT Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. 8533761

1995
dbSNP: rs80356690
rs80356690
CLCN1
0.800 GeneticVariation UNIPROT Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). 8112288

1994
dbSNP: rs80356690
rs80356690
CLCN1
0.800 GeneticVariation UNIPROT Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). 7981750

1993