Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122917
rs398122917
0.800 GeneticVariation UNIPROT An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. 22814392

2013

dbSNP: rs398122917
rs398122917
0.800 CausalMutation CLINVAR An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity. 22814392

2013

dbSNP: rs398122917
rs398122917
0.800 CausalMutation CLINVAR A missense mutation in CLIC2 associated with intellectual disability is predicted by in silico modeling to affect protein stability and dynamics. 21630357

2011