Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852700
rs137852700
A 0.710 CausalMutation CLINVAR Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype. 25574475

2014

dbSNP: rs267606737
rs267606737
0.710 GeneticVariation BEFREE Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X). 19489875

2009

dbSNP: rs137852700
rs137852700
0.710 GeneticVariation BEFREE Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2. 16720047

2006

dbSNP: rs137852700
rs137852700
A 0.710 CausalMutation CLINVAR Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. 9425237

1998

dbSNP: rs137852700
rs137852700
A 0.710 CausalMutation CLINVAR Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 9664077

1998

dbSNP: rs267606737
rs267606737
T 0.710 CausalMutation CLINVAR

dbSNP: rs202189057
rs202189057
T 0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016

dbSNP: rs119455954
rs119455954
T 0.700 CausalMutation CLINVAR Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. 26075876

2015

dbSNP: rs1554902052
rs1554902052
C 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

dbSNP: rs386833980
rs386833980
A 0.700 CausalMutation CLINVAR Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652

2015

dbSNP: rs104894060
rs104894060
T 0.700 CausalMutation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014

dbSNP: rs386833698
rs386833698
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: rs104894060
rs104894060
T 0.700 CausalMutation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165

2013

dbSNP: rs119455955
rs119455955
A 0.700 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563

2013

dbSNP: rs121908202
rs121908202
A 0.700 CausalMutation CLINVAR Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. 23266810

2013

dbSNP: rs202189057
rs202189057
T 0.700 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563

2013

dbSNP: rs202189057
rs202189057
T 0.700 CausalMutation CLINVAR Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. 23266810

2013

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

2013

dbSNP: rs386833966
rs386833966
A 0.700 CausalMutation CLINVAR The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. 24058541

2013

dbSNP: rs386833966
rs386833966
A 0.700 CausalMutation CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957

2013

dbSNP: rs386833969
rs386833969
C 0.700 CausalMutation CLINVAR The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. 24058541

2013

dbSNP: rs386833969
rs386833969
C 0.700 CausalMutation CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957

2013

dbSNP: rs386833980
rs386833980
A 0.700 CausalMutation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165

2013

dbSNP: rs398122959
rs398122959
C 0.700 CausalMutation CLINVAR Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). 23418007

2013

dbSNP: rs546989392
rs546989392
T 0.700 CausalMutation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165

2013