Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: rs267606737
rs267606737
CLN3
0.710 GeneticVariation BEFREE Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X). 19489875

2009
dbSNP: rs1267314028
rs1267314028
CLN3
0.010 GeneticVariation BEFREE We determined that the mutations 223A --> G and 451C --> T in CLN1, T523-1G --> C, and 636 C --> T in CLN2, and deletion of a 1.02-kb genomic fragment in CLN3 are the five common mutations for NCL. 11142754

2000
dbSNP: rs137852696
rs137852696
PPT1
0.010 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: rs63751177
rs63751177
GRN
0.010 GeneticVariation BEFREE MRI findings suggested a neurodegenerative disorder like NCL and prompted us to go for whole exome screen which revealed NCL type 11 due to homozygous mutation c.912G>A (p.Trp304Ter) in exon 9 of GRN gene (OMIM#614706). 30922528

2019
dbSNP: rs750033880
rs750033880
KCTD7
0.010 GeneticVariation BEFREE Patient 2 (NM_153033.4: c.[172G>A], NP_694578: p.[(Gly58Arg)]) presented with early neurological regression, myoclonic seizures and lysosomal storage material which was consistent with a neuronal ceroid lipofuscinosis (NCL) at skin biopsy. 30500434

2019
dbSNP: rs762896453
rs762896453
CLN3
0.010 GeneticVariation BEFREE We determined that the mutations 223A --> G and 451C --> T in CLN1, T523-1G --> C, and 636 C --> T in CLN2, and deletion of a 1.02-kb genomic fragment in CLN3 are the five common mutations for NCL. 11142754

2000
dbSNP: rs796052407
rs796052407
CTSD
0.010 GeneticVariation BEFREE Remaining neurons, astrocytes and macrophages contained PAS-positive storage material with granular ultrastructure and immunoreactivity against sphingolipid activator protein D. A diagnosis of congenital NCL was rendered with a novel mutation, c.299C > T (p.Ser100Phe) in exon 3 of the cathepsin D gene. 18762956

2009
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: 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
T 0.710 CausalMutation CLINVAR

dbSNP: rs104894060
rs104894060
CLN8
T 0.700 CausalMutation CLINVAR Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. 15024724

2004
dbSNP: rs104894060
rs104894060
CLN8
T 0.700 CausalMutation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165

2013
dbSNP: rs104894060
rs104894060
CLN8
T 0.700 CausalMutation CLINVAR Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. 19807737

2010
dbSNP: rs104894060
rs104894060
CLN8
T 0.700 CausalMutation CLINVAR Clinical exome sequencing for genetic identification of rare Mendelian disorders. 25326637

2014
dbSNP: rs104894064
rs104894064
CLN8
G 0.700 CausalMutation CLINVAR The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. 10861296

2000
dbSNP: rs104894064
rs104894064
CLN8
G 0.700 CausalMutation CLINVAR Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells. 15160397

2004
dbSNP: rs104894385
rs104894385
CLN5 ; FBXL3
A 0.700 CausalMutation CLINVAR

dbSNP: rs104894386
rs104894386
CLN5 ; FBXL3
C 0.700 CausalMutation CLINVAR

dbSNP: rs104894483
rs104894483
CLN6
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057516677
rs1057516677
CLN3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060502179
rs1060502179
TPP1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs113019349
rs113019349
TPP1
T 0.700 GeneticVariation CLINVAR Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 10330339

1999
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