Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434286
rs121434286
CLN3
0.820 GeneticVariation BEFREE We have analysed the intracellular processing and localization of two mutants, 461-677del, which is present in 85% of CLN3 alleles and causes the classical JNCL, and E295K [corrected], which is a rare missense mutation associated with an atypical form of JNCL. 10332042

1999
dbSNP: rs121434286
rs121434286
CLN3
0.820 GeneticVariation BEFREE Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. 9490299

1998
dbSNP: rs386833730
rs386833730
CLN3
0.810 GeneticVariation BEFREE The disease severity of Batten disease-causing mutations (G187A, E295K and V330F), when expressed in btn1 appeared to correlate with their effect on vacuolar pH, suggesting that elevated lysosomal pH contributes to the disease process. 16291725

2005
dbSNP: rs906090744
rs906090744
DNAH8
0.010 GeneticVariation BEFREE The disease severity of Batten disease-causing mutations (G187A, E295K and V330F), when expressed in btn1 appeared to correlate with their effect on vacuolar pH, suggesting that elevated lysosomal pH contributes to the disease process. 16291725

2005
dbSNP: rs121434286
rs121434286
CLN3
A 0.820 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs121434286
rs121434286
CLN3
A 0.820 GeneticVariation 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: rs121434286
rs121434286
CLN3
T 0.820 CausalMutation CLINVAR

dbSNP: rs386833730
rs386833730
CLN3
G 0.810 GeneticVariation CLINVAR

dbSNP: rs386833694
rs386833694
CLN3
A 0.800 GeneticVariation CLINVAR Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis. 12189165

2002
dbSNP: rs386833694
rs386833694
CLN3
A 0.800 GeneticVariation CLINVAR A yeast model for the study of Batten disease. 9618513

1998
dbSNP: rs386833694
rs386833694
CLN3
A 0.800 GeneticVariation CLINVAR Mutant CLN3 protein (R334C) that is associated with the classical JNCL phenotype was devoid of biological activities of wild-type CLN3 protein. 10924275

2000
dbSNP: rs386833694
rs386833694
CLN3
A 0.800 GeneticVariation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997
dbSNP: rs386833694
rs386833694
CLN3
A 0.800 GeneticVariation 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: rs386833694
rs386833694
CLN3
A 0.800 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 0.800 GeneticVariation CLINVAR Batten disease: evaluation of CLN3 mutations on protein localization and function. 10749980

2000
dbSNP: rs386833695
rs386833695
CLN3
T 0.800 GeneticVariation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563

2013
dbSNP: rs386833695
rs386833695
CLN3
T 0.800 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563

2013
dbSNP: rs386833695
rs386833695
CLN3
T 0.800 CausalMutation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997
dbSNP: rs386833695
rs386833695
CLN3
T 0.800 GeneticVariation 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 0.800 GeneticVariation CLINVAR Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. 21499717

2011
dbSNP: rs386833695
rs386833695
CLN3
T 0.800 GeneticVariation CLINVAR Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). 20187884

2010
dbSNP: rs386833695
rs386833695
CLN3
T 0.800 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 0.800 GeneticVariation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997
dbSNP: rs386833695
rs386833695
CLN3
T 0.800 CausalMutation CLINVAR Batten disease: evaluation of CLN3 mutations on protein localization and function. 10749980

2000
dbSNP: rs386833695
rs386833695
CLN3
T 0.800 GeneticVariation CLINVAR A yeast model for the study of Batten disease. 9618513

1998