Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852700
rs137852700
PPT1
A 0.710 CausalMutation CLINVAR Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype. 25574475

2014
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: rs137852700
rs137852700
PPT1
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
PPT1
A 0.710 CausalMutation CLINVAR Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. 9664077

1998
dbSNP: rs137852700
rs137852700
PPT1
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: rs267606737
rs267606737
CLN3
T 0.710 CausalMutation CLINVAR

dbSNP: rs202189057
rs202189057
TPP1
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
TPP1
T 0.700 CausalMutation CLINVAR Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. 26075876

2015
dbSNP: rs1554902052
rs1554902052
TPP1
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
CLN5 ; FBXL3
A 0.700 CausalMutation CLINVAR Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652

2015
dbSNP: rs104894060
rs104894060
CLN8
T 0.700 CausalMutation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014
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: rs104894060
rs104894060
CLN8
T 0.700 CausalMutation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165

2013
dbSNP: rs119455955
rs119455955
TPP1
A 0.700 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563

2013
dbSNP: rs121908202
rs121908202
TPP1
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
TPP1
T 0.700 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563

2013
dbSNP: rs202189057
rs202189057
TPP1
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
CLN3
T 0.700 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563

2013
dbSNP: rs386833966
rs386833966
CLN5 ; FBXL3
A 0.700 CausalMutation CLINVAR The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. 24058541

2013
dbSNP: rs386833966
rs386833966
CLN5 ; FBXL3
A 0.700 CausalMutation CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957

2013
dbSNP: rs386833969
rs386833969
CLN5 ; FBXL3
C 0.700 CausalMutation CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957

2013
dbSNP: rs386833969
rs386833969
CLN5 ; FBXL3
C 0.700 CausalMutation CLINVAR The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. 24058541

2013
dbSNP: rs386833980
rs386833980
CLN5 ; FBXL3
A 0.700 CausalMutation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165

2013
dbSNP: rs398122959
rs398122959
TPP1
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
CLN5 ; FBXL3
T 0.700 CausalMutation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165

2013