Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434286
rs121434286
CLN3
T 0.820 CausalMutation CLINVAR

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 CausalMutation CLINVAR Batten disease: evaluation of CLN3 mutations on protein localization and function. 10749980

2000
dbSNP: rs386833695
rs386833695
CLN3
T 0.800 CausalMutation CLINVAR The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. 19132115

2009
dbSNP: rs1555468632
rs1555468632
CLN3
A 0.700 CausalMutation CLINVAR Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium. 7553855

1995
dbSNP: rs1555468632
rs1555468632
CLN3
A 0.700 CausalMutation CLINVAR Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL) 10332042

1999
dbSNP: rs1555468632
rs1555468632
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: rs1555468634
rs1555468634
CLN3
G 0.700 CausalMutation CLINVAR

dbSNP: rs386833697
rs386833697
CLN3
A 0.700 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563

2013
dbSNP: rs386833697
rs386833697
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: rs386833702
rs386833702
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: rs386833702
rs386833702
CLN3
A 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs386833702
rs386833702
CLN3
A 0.700 CausalMutation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997
dbSNP: rs386833720
rs386833720
CLN3
A 0.700 CausalMutation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997
dbSNP: rs386833740
rs386833740
CLN3
GT 0.700 CausalMutation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165

2013
dbSNP: rs386833740
rs386833740
CLN3
GT 0.700 CausalMutation CLINVAR Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). 22013180

2011
dbSNP: rs386833740
rs386833740
CLN3
GT 0.700 CausalMutation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997
dbSNP: rs587779397
rs587779397
CLN3
GA 0.700 CausalMutation CLINVAR

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

1998
dbSNP: rs121434286
rs121434286
CLN3
0.820 GeneticVariation UNIPROT Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997
dbSNP: rs121434286
rs121434286
CLN3
0.820 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012