Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
dbSNP: rs119455954
rs119455954
TPP1
T 0.700 CausalMutation 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 Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis. 9788728

1998
dbSNP: rs119455955
rs119455955
TPP1
A 0.700 CausalMutation CLINVAR Atypical CLN2 with later onset and prolonged course: a neuropathologic study showing different sensitivity of neuronal subpopulations to TPP1 deficiency. 18283468

2008
dbSNP: rs119455955
rs119455955
TPP1
A 0.700 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563

2013
dbSNP: rs119455955
rs119455955
TPP1
A 0.700 CausalMutation CLINVAR We analyzed the functional consequences of the mutations R127Q, R208X, N286S, I287N, T353P and Q422H, which were previously identified in patients with late infantile ceroid lipofuscinosis, with regard to enzymatic activity, stability, post-translational processing and intracellular localization of tripeptidyl-peptidase I. 15317752

2004
dbSNP: rs119455955
rs119455955
TPP1
A 0.700 CausalMutation CLINVAR Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. 9295267

1997
dbSNP: rs119455955
rs119455955
TPP1
A 0.700 CausalMutation CLINVAR Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 10330339

1999
dbSNP: rs119455957
rs119455957
TPP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121434286
rs121434286
CLN3
T 0.700 CausalMutation CLINVAR

dbSNP: rs121908080
rs121908080
CLN6
T 0.700 CausalMutation CLINVAR

dbSNP: rs121908199
rs121908199
TPP1
T 0.700 CausalMutation CLINVAR

dbSNP: rs121908200
rs121908200
TPP1
G 0.700 CausalMutation CLINVAR