Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606737
rs267606737
CLN3
0.710 GeneticVariation BEFREE Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X). 19489875

2009
dbSNP: rs267606737
rs267606737
CLN3
T 0.710 CausalMutation CLINVAR

dbSNP: rs1057516677
rs1057516677
CLN3
T 0.700 CausalMutation CLINVAR

dbSNP: rs121434286
rs121434286
CLN3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555468634
rs1555468634
CLN3
G 0.700 CausalMutation CLINVAR

dbSNP: rs386833694
rs386833694
CLN3
A 0.700 GeneticVariation CLINVAR Batten disease: evaluation of CLN3 mutations on protein localization and function. 10749980

2000
dbSNP: rs386833694
rs386833694
CLN3
A 0.700 GeneticVariation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997
dbSNP: rs386833694
rs386833694
CLN3
A 0.700 GeneticVariation CLINVAR Nitric oxide signaling is disrupted in the yeast model for Batten disease. 17475770

2007
dbSNP: rs386833694
rs386833694
CLN3
A 0.700 GeneticVariation CLINVAR Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue. 17868323

2007
dbSNP: rs386833694
rs386833694
CLN3
A 0.700 GeneticVariation CLINVAR btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis. 16291725

2005
dbSNP: rs386833694
rs386833694
CLN3
A 0.700 GeneticVariation CLINVAR The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. 19132115

2009
dbSNP: rs386833695
rs386833695
CLN3
T 0.700 CausalMutation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997
dbSNP: rs386833695
rs386833695
CLN3
T 0.700 CausalMutation CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs386833695
rs386833695
CLN3
T 0.700 CausalMutation CLINVAR Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. 21499717

2011
dbSNP: rs386833695
rs386833695
CLN3
T 0.700 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563

2013
dbSNP: rs386833695
rs386833695
CLN3
T 0.700 CausalMutation CLINVAR Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). 20187884

2010
dbSNP: rs386833695
rs386833695
CLN3
T 0.700 CausalMutation CLINVAR The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. 19132115

2009
dbSNP: rs386833698
rs386833698
CLN3
G 0.700 GeneticVariation CLINVAR Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway. 24271013

2014
dbSNP: rs386833709
rs386833709
CLN3
A 0.700 CausalMutation CLINVAR Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012
dbSNP: rs386833720
rs386833720
CLN3
A 0.700 CausalMutation CLINVAR A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. 17947292

2008
dbSNP: rs386833720
rs386833720
CLN3
A 0.700 CausalMutation CLINVAR Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). 20187884

2010
dbSNP: rs386833720
rs386833720
CLN3
A 0.700 CausalMutation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997
dbSNP: rs386833732
rs386833732
CLN3
TC 0.700 CausalMutation CLINVAR

dbSNP: rs386833736
rs386833736
CLN3
GA 0.700 CausalMutation CLINVAR

dbSNP: rs386833740
rs386833740
CLN3
GT 0.700 CausalMutation CLINVAR