CLCN2, chloride voltage-gated channel 2, 1181

N. diseases: 67; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs758379595
rs758379595
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C4023208
Disease:
Glucocortocoid-insensitive primary hyperaldosteronism 		T 0.700 CausalMutation CLINVAR
dbSNP: rs758379595
rs758379595
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C0020621
Disease:
Hypokalemia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs758379595
rs758379595
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1854107
Disease:
Hyperaldosteronism, Familial, Type II 		T 0.700 CausalMutation CLINVAR
dbSNP: rs758379595
rs758379595
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1384514
Disease:
Conn Syndrome 		T 0.700 CausalMutation CLINVAR
dbSNP: rs758379595
rs758379595
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C0020538
Disease:
Hypertensive disease 		T 0.700 CausalMutation CLINVAR
dbSNP: rs771507094
rs771507094
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA 		T 0.700 CausalMutation CLINVAR
dbSNP: rs863225249
rs863225249
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA 		G 0.700 CausalMutation CLINVAR
dbSNP: rs863225250
rs863225250
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA 		A 0.700 CausalMutation CLINVAR
dbSNP: rs863225253
rs863225253
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA 		C 0.700 CausalMutation CLINVAR
dbSNP: rs863225254
rs863225254
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA 		T 0.700 CausalMutation CLINVAR
dbSNP: rs863225255
rs863225255
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA 		T 0.700 CausalMutation CLINVAR
dbSNP: rs863225256
rs863225256
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA 		A 0.700 CausalMutation CLINVAR
dbSNP: rs515726131
rs515726131
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA 		TC 0.700 GeneticVariation CLINVAR Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. 12612585 2003
dbSNP: rs2228292
rs2228292
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1611743
Disease:
Familial (FPAH) 		0.010 GeneticVariation BEFREE Intra-familial association analysis using the pedigrees and a further 308 parent-child trios showed suggestive evidence for transmission disequilibrium of the G2154C minor allele: AVE-PDT chi(1)2 = 5.17, p<0.03. 17580110 2007
dbSNP: rs137852682
rs137852682
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C2750893
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 		0.800 GeneticVariation UNIPROT Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. 19191339 2009
dbSNP: rs137852681
rs137852681
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C2750893
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 		0.700 GeneticVariation UNIPROT CLCN2 variants in idiopathic generalized epilepsy. 19710712 2009
dbSNP: rs71318369
rs71318369
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C2750893
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 		0.700 GeneticVariation UNIPROT Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. 19191339 2009
dbSNP: rs201330912
rs201330912
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA 		T 0.700 CausalMutation CLINVAR Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. 21703448 2011
dbSNP: rs587777111
rs587777111
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA 		A 0.800 CausalMutation CLINVAR Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. 23707145 2013
dbSNP: rs587777111
rs587777111
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA 		0.800 GeneticVariation UNIPROT Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. 23707145 2013
dbSNP: rs201330912
rs201330912
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA 		T 0.700 CausalMutation CLINVAR Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. 23707145 2013
dbSNP: rs587777110
rs587777110
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA 		T 0.700 CausalMutation CLINVAR Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. 23707145 2013
dbSNP: rs587777112
rs587777112
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA 		GC 0.700 CausalMutation CLINVAR Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. 23707145 2013
dbSNP: rs863225252
rs863225252
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA 		C 0.700 CausalMutation CLINVAR Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. 23707145 2013
dbSNP: rs777105668
rs777105668
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA 		T 0.700 CausalMutation CLINVAR Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation. 25128180 2014