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: rs1293789661
rs1293789661
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1854107
Disease:
Hyperaldosteronism, Familial, Type II 		0.810 GeneticVariation BEFREE Whole-exome sequencing in a large family with FH-II revealed a shared rare damaging heterozygous variant in CLCN2 (chr.3: g.184075850C>T, p.Arg172Gln) in three severely affected members. 30949771 2019
dbSNP: rs1293789661
rs1293789661
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1854107
Disease:
Hyperaldosteronism, Familial, Type II 		0.810 GeneticVariation UNIPROT
dbSNP: rs1293789661
rs1293789661
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1854107
Disease:
Hyperaldosteronism, Familial, Type II 		T 0.810 CausalMutation CLINVAR
dbSNP: rs1085307938
rs1085307938
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1854107
Disease:
Hyperaldosteronism, Familial, Type II 		T 0.800 CausalMutation CLINVAR A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism. 29403012 2018
dbSNP: rs1553853557
rs1553853557
Entrez Id: 1181;131408
Gene Symbol: CLCN2;FAM131A
CLCN2;FAM131A
CUI: C1854107
Disease:
Hyperaldosteronism, Familial, Type II 		0.800 GeneticVariation UNIPROT A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism. 29403012 2018
dbSNP: rs1553853557
rs1553853557
Entrez Id: 1181;131408
Gene Symbol: CLCN2;FAM131A
CLCN2;FAM131A
CUI: C1854107
Disease:
Hyperaldosteronism, Familial, Type II 		0.800 GeneticVariation UNIPROT CLCN2 chloride channel mutations in familial hyperaldosteronism type II. 29403011 2018
dbSNP: rs1553857113
rs1553857113
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1854107
Disease:
Hyperaldosteronism, Familial, Type II 		0.800 GeneticVariation UNIPROT A gain-of-function mutation in the CLCN2 chloride channel gene causes primary aldosteronism. 29403012 2018
dbSNP: rs1553857113
rs1553857113
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1854107
Disease:
Hyperaldosteronism, Familial, Type II 		0.800 GeneticVariation UNIPROT CLCN2 chloride channel mutations in familial hyperaldosteronism type II. 29403011 2018
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: 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: rs1085307938
rs1085307938
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1854107
Disease:
Hyperaldosteronism, Familial, Type II 		0.800 GeneticVariation UNIPROT
dbSNP: rs137852682
rs137852682
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C2750893
Disease:
EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11 		T 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs1553853557
rs1553853557
Entrez Id: 1181;131408
Gene Symbol: CLCN2;FAM131A
CLCN2;FAM131A
CUI: C1854107
Disease:
Hyperaldosteronism, Familial, Type II 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1553857113
rs1553857113
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1854107
Disease:
Hyperaldosteronism, Familial, Type II 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1293789661
rs1293789661
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1384514
Disease:
Conn Syndrome 		0.710 GeneticVariation BEFREE Eight probands had novel heterozygous variants in CLCN2, including two de novo mutations and four independent occurrences of a mutation encoding an identical p.Arg172Gln substitution; all relatives with early-onset primary aldosteronism carried the CLCN2 variant found in the proband. 29403011 2018
dbSNP: rs1293789661
rs1293789661
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C1384514
Disease:
Conn Syndrome 		T 0.710 CausalMutation CLINVAR
dbSNP: rs73189617
rs73189617
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C0021704
Disease:
Intelligence 		C 0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
dbSNP: rs863225251
rs863225251
Entrez Id: 1181
Gene Symbol: CLCN2
CLCN2
CUI: C3810242
Disease:
LEUKOENCEPHALOPATHY WITH ATAXIA 		ATGAGCAGT 0.700 CausalMutation CLINVAR Secondary paroxysmal kinesigenic dyskinesia associated with CLCN2 gene mutation. 25745790 2015
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
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: 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