CLCN2 Chromosome 3
Chloride voltage-gated channel 2
Upload your DNA to see your personal genotypes for variants in CLCN2.
What This Gene Does
This gene encodes a voltage-gated chloride channel. The encoded protein is a transmembrane protein that maintains chloride ion homeostasis in various cells. Defects in this gene may be a cause of certain epilepsies. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
CLC chloride channel and transporter family
Locus Type
gene with protein product
Location
3q27.1
Ensembl
ENSG00000114859
Associated Conditions (17)
Epilepsy
idiopathic generalized
susceptibility to
11
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Cerebral palsy
CLCN2-related disorder
See cases
Inborn genetic diseases
Familial hyperaldosteronism type II
Nonpapillary renal cell carcinoma
Hereditary ataxia
EPILEPSY
JUVENILE MYOCLONIC
SUSCEPTIBILITY TO
8
Uterine corpus endometrial carcinoma
Key Variants
RS137852682
Conflicting classifications of pathogenicity
Epilepsy, idiopathic generalized, susceptibility to
Health Risk
RS139188499
Conflicting classifications of pathogenicity
See cases, Inborn genetic diseases, See cases
Health Risk
RS140463309
Conflicting classifications of pathogenicity
Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II, Epilepsy
Health Risk
RS141242566
Conflicting classifications of pathogenicity
Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II, Epilepsy
Health Risk
RS141605519
Conflicting classifications of pathogenicity
Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy
Health Risk
RS144412275
Conflicting classifications of pathogenicity
Leukoencephalopathy with mild cerebellar ataxia and white matter edema, CLCN2-related disorder, Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Health Risk
RS146078508
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147728691
Conflicting classifications of pathogenicity
Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy
Health Risk
RS149827415
Conflicting classifications of pathogenicity
Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy
Health Risk
RS150751460
Conflicting classifications of pathogenicity
See cases, Inborn genetic diseases, See cases
Health Risk
RS150991495
Conflicting classifications of pathogenicity
Inborn genetic diseases, CLCN2-related disorder, Inborn genetic diseases
Health Risk
RS151257924
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (62)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137852682 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, idiopathic generalized, susceptibility to |
| RS139188499 | Health Risk | Conflicting classifications of pathogenicity | See cases, Inborn genetic diseases, See cases |
| RS140463309 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II, Epilepsy |
| RS141242566 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II, Epilepsy |
| RS141605519 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy |
| RS144412275 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, CLCN2-related disorder, Leukoencephalopathy with mild cerebellar ataxia and white matter edema |
| RS146078508 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147728691 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy |
| RS149827415 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy |
| RS150751460 | Health Risk | Conflicting classifications of pathogenicity | See cases, Inborn genetic diseases, See cases |
| RS150991495 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CLCN2-related disorder, Inborn genetic diseases |
| RS151257924 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200095202 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, idiopathic generalized, susceptibility to |
| RS200815093 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201215121 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy |
| RS368380934 | Health Risk | Conflicting classifications of pathogenicity | CLCN2-related disorder, Inborn genetic diseases, CLCN2-related disorder |
| RS371193424 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II, Epilepsy |
| RS377119457 | Health Risk | Conflicting classifications of pathogenicity | Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy |
| RS515726131 | Health Risk | Conflicting classifications of pathogenicity | EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO |
| RS71318369 | Health Risk | Conflicting classifications of pathogenicity | EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO |
| RS747813139 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, idiopathic generalized, susceptibility to |
| RS758326249 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy, idiopathic generalized |
| RS759074708 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Epilepsy, idiopathic generalized |
| RS762292619 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema |
| RS764793623 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Epilepsy, idiopathic generalized |
| RS141074059 | Health Risk | Likely pathogenic | Epilepsy, idiopathic generalized, susceptibility to |
| RS1458831101 | Health Risk | Likely pathogenic | Epilepsy, idiopathic generalized, susceptibility to |
| RS1467529061 | Health Risk | Likely pathogenic | — |
| RS1553855606 | Health Risk | Likely pathogenic | — |
| RS2474235576 | Health Risk | Likely pathogenic | CLCN2-related disorder, CLCN2-related disorder |
| RS2474240689 | Health Risk | Likely pathogenic | CLCN2-related disorder, CLCN2-related disorder |
| RS2474259823 | Health Risk | Likely pathogenic | — |
| RS2474277095 | Health Risk | Likely pathogenic | CLCN2-related disorder, CLCN2-related disorder |
| RS376823689 | Health Risk | Likely pathogenic | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Leukoencephalopathy with mild cerebellar ataxia and white matter edema |
| RS762887805 | Health Risk | Likely pathogenic | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Leukoencephalopathy with mild cerebellar ataxia and white matter edema |
| RS765555186 | Health Risk | Likely pathogenic | — |
| RS771507094 | Health Risk | Likely pathogenic | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II, CLCN2-related disorder |
| RS863225250 | Health Risk | Likely pathogenic | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Familial hyperaldosteronism type II, Epilepsy |
| RS1055985062 | Health Risk | Pathogenic | CLCN2-related disorder, CLCN2-related disorder |
| RS1245141384 | Health Risk | Pathogenic | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Leukoencephalopathy with mild cerebellar ataxia and white matter edema |
| RS1293789661 | Health Risk | Pathogenic | Familial hyperaldosteronism type II, Epilepsy, idiopathic generalized |
| RS1303361703 | Health Risk | Pathogenic | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Leukoencephalopathy with mild cerebellar ataxia and white matter edema |
| RS1370370740 | Health Risk | Pathogenic | — |
| RS1478304584 | Health Risk | Pathogenic | Leukoencephalopathy with mild cerebellar ataxia and white matter edema, Leukoencephalopathy with mild cerebellar ataxia and white matter edema |
| RS1553853557 | Health Risk | Pathogenic | Familial hyperaldosteronism type II, Familial hyperaldosteronism type II |
| RS1553856214 | Health Risk | Pathogenic | Familial hyperaldosteronism type II, Familial hyperaldosteronism type II |
| RS1553857113 | Health Risk | Pathogenic | Familial hyperaldosteronism type II, Familial hyperaldosteronism type II |
| RS1560255987 | Health Risk | Pathogenic | — |
| RS2474239446 | Health Risk | Pathogenic | — |
| RS2474245240 | Health Risk | Pathogenic | — |