Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119455955
rs119455955
0.710 GeneticVariation BEFREE Collectively, these assessments indicate that the Cln2R207X/R207X mouse is a valid CLN2 disease model which can be used for the preclinical evaluation of all therapeutic approaches including mutation guided therapies. 28464005

2017

dbSNP: rs119455955
rs119455955
A 0.710 CausalMutation CLINVAR Collectively, these assessments indicate that the Cln2R207X/R207X mouse is a valid CLN2 disease model which can be used for the preclinical evaluation of all therapeutic approaches including mutation guided therapies. 28464005

2017

dbSNP: rs119455955
rs119455955
A 0.710 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016

dbSNP: rs119455955
rs119455955
A 0.710 CausalMutation CLINVAR The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis. 23539563

2013

dbSNP: rs119455955
rs119455955
A 0.710 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: rs119455955
rs119455955
A 0.710 CausalMutation CLINVAR Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes. 15317752

2004

dbSNP: rs119455955
rs119455955
A 0.710 CausalMutation CLINVAR R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis. 12950156

2003

dbSNP: rs119455955
rs119455955
A 0.710 CausalMutation CLINVAR Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. 10330339

1999

dbSNP: rs119455955
rs119455955
A 0.710 CausalMutation CLINVAR Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipofuscinosis. 9788728

1998

dbSNP: rs119455955
rs119455955
A 0.710 CausalMutation CLINVAR Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. 9295267

1997