CLIC2, chloride intracellular channel 2, 1193

N. diseases: 39; N. variants: 1
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122917
rs398122917
Entrez Id: 1193
Gene Symbol: CLIC2
CLIC2
CUI: C3550913
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32 		0.800 GeneticVariation UNIPROT An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. 22814392 2012
dbSNP: rs398122917
rs398122917
Entrez Id: 1193
Gene Symbol: CLIC2
CLIC2
CUI: C3550913
Disease:
MENTAL RETARDATION, X-LINKED, SYNDROMIC 32 		C 0.800 CausalMutation CLINVAR
dbSNP: rs398122917
rs398122917
Entrez Id: 1193
Gene Symbol: CLIC2
CLIC2
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE Utilizing exome capture and deep sequencing of genes on the X-chromosome, we have identified a mutation in CLIC2 (c.303C>G, p.H101Q) which is associated with X-linked intellectual disability (ID), atrial fibrillation, cardiomegaly, congestive heart failure (CHF), some somatic features and seizures. 22814392 2012
dbSNP: rs398122917
rs398122917
Entrez Id: 1193
Gene Symbol: CLIC2
CLIC2
CUI: C0018802
Disease:
Congestive heart failure 		0.010 GeneticVariation BEFREE Utilizing exome capture and deep sequencing of genes on the X-chromosome, we have identified a mutation in CLIC2 (c.303C>G, p.H101Q) which is associated with X-linked intellectual disability (ID), atrial fibrillation, cardiomegaly, congestive heart failure (CHF), some somatic features and seizures. 22814392 2012
dbSNP: rs398122917
rs398122917
Entrez Id: 1193
Gene Symbol: CLIC2
CLIC2
CUI: C0036572
Disease:
Seizures 		0.010 GeneticVariation BEFREE Utilizing exome capture and deep sequencing of genes on the X-chromosome, we have identified a mutation in CLIC2 (c.303C>G, p.H101Q) which is associated with X-linked intellectual disability (ID), atrial fibrillation, cardiomegaly, congestive heart failure (CHF), some somatic features and seizures. 22814392 2012
dbSNP: rs398122917
rs398122917
Entrez Id: 1193
Gene Symbol: CLIC2
CLIC2
CUI: C0004238
Disease:
Atrial Fibrillation 		0.010 GeneticVariation BEFREE Utilizing exome capture and deep sequencing of genes on the X-chromosome, we have identified a mutation in CLIC2 (c.303C>G, p.H101Q) which is associated with X-linked intellectual disability (ID), atrial fibrillation, cardiomegaly, congestive heart failure (CHF), some somatic features and seizures. 22814392 2012