CLCN4, chloride voltage-gated channel 4, 1183

N. diseases: 114; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777161
rs587777161
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
CUI: C0796221
Disease:
MENTAL RETARDATION, X-LINKED 15 		0.800 GeneticVariation UNIPROT X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. 25644381 2016
dbSNP: rs587777161
rs587777161
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
CUI: C0796221
Disease:
MENTAL RETARDATION, X-LINKED 15 		0.800 GeneticVariation UNIPROT Exome sequencing reveals new causal mutations in children with epileptic encephalopathies. 23647072 2013
dbSNP: rs587777161
rs587777161
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
CUI: C0796221
Disease:
MENTAL RETARDATION, X-LINKED 15 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777161
rs587777161
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
CUI: C1843367
Disease:
Poor school performance 		C 0.700 CausalMutation CLINVAR De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. 27550844 2018
dbSNP: rs879255580
rs879255580
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
CUI: C1843367
Disease:
Poor school performance 		G 0.700 CausalMutation CLINVAR De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. 27550844 2018
dbSNP: rs879255581
rs879255581
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
CUI: C1843367
Disease:
Poor school performance 		C 0.700 CausalMutation CLINVAR De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. 27550844 2018
dbSNP: rs879255582
rs879255582
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
CUI: C1843367
Disease:
Poor school performance 		T 0.700 CausalMutation CLINVAR De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. 27550844 2018
dbSNP: rs879255583
rs879255583
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
CUI: C1843367
Disease:
Poor school performance 		T 0.700 CausalMutation CLINVAR De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. 27550844 2018
dbSNP: rs879255584
rs879255584
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
CUI: C1843367
Disease:
Poor school performance 		T 0.700 CausalMutation CLINVAR De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. 27550844 2018
dbSNP: rs879255585
rs879255585
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
CUI: C1843367
Disease:
Poor school performance 		A 0.700 CausalMutation CLINVAR De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. 27550844 2018
dbSNP: rs879255586
rs879255586
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
CUI: C1843367
Disease:
Poor school performance 		CA 0.700 CausalMutation CLINVAR De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. 27550844 2018
dbSNP: rs879255590
rs879255590
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
CUI: C1843367
Disease:
Poor school performance 		A 0.700 CausalMutation CLINVAR De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. 27550844 2018
dbSNP: rs1555976973
rs1555976973
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
CUI: C0796221
Disease:
MENTAL RETARDATION, X-LINKED 15 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1569226551
rs1569226551
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
CUI: C0796221
Disease:
MENTAL RETARDATION, X-LINKED 15 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1569230006
rs1569230006
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
CUI: C0796221
Disease:
MENTAL RETARDATION, X-LINKED 15 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1569231897
rs1569231897
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
CUI: C0796221
Disease:
MENTAL RETARDATION, X-LINKED 15 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1569233549
rs1569233549
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
CUI: C0796221
Disease:
MENTAL RETARDATION, X-LINKED 15 		C 0.700 CausalMutation CLINVAR