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: 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: 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: 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: 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 CLCN2 chloride channel mutations in familial hyperaldosteronism type II. 29403011 2018
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: 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