Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs386833728
rs386833728
CLN3
G 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
dbSNP: rs386833697
rs386833697
CLN3
A 0.700 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563

2013
dbSNP: rs386833740
rs386833740
CLN3
GT 0.700 CausalMutation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165

2013
dbSNP: rs267606737
rs267606737
CLN3
T 0.700 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: rs267606737
rs267606737
CLN3
T 0.700 GeneticVariation CLINVAR The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking. 22545070

2012
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: rs386833701
rs386833701
CLN3
A 0.700 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: 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: rs386833712
rs386833712
CLN3
GC 0.700 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: rs386833740
rs386833740
CLN3
GT 0.700 CausalMutation CLINVAR Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease). 22013180

2011
dbSNP: rs267606737
rs267606737
CLN3
T 0.700 GeneticVariation CLINVAR Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X). 19489875

2009
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: rs386833701
rs386833701
CLN3
A 0.700 GeneticVariation CLINVAR Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells. 14699076

2004
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: rs386833728
rs386833728
CLN3
G 0.700 GeneticVariation CLINVAR Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis. 9932957

1999
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: rs386833729
rs386833729
CLN3
C 0.700 GeneticVariation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997
dbSNP: rs386833740
rs386833740
CLN3
GT 0.700 CausalMutation CLINVAR Spectrum of mutations in the Batten disease gene, CLN3. 9311735

1997
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: rs1057516267
rs1057516267
CLN3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516335
rs1057516335
CLN3
GA 0.700 GeneticVariation CLINVAR

dbSNP: rs1057516343
rs1057516343
CLN3
T 0.700 GeneticVariation CLINVAR