Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200319160
rs200319160
T 0.700 CausalMutation CLINVAR

dbSNP: rs119455955
rs119455955
0.030 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
0.030 GeneticVariation BEFREE 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
0.030 GeneticVariation BEFREE The previously reported nonsense mutation, 636 C-->T leading to R208stop, was found in 31% (5/16) of the cases, including one homozygote and accounted for 19% (6/32) of LINCL chromosomes. 9788728

1998

dbSNP: rs119455956
rs119455956
0.010 GeneticVariation BEFREE Association of the R447H mutation with a delayed onset form of LINCL in two separate families raised the question of whether R447H CLN2 retains residual activity. 11462245

2001

dbSNP: rs1184563885
rs1184563885
0.010 GeneticVariation BEFREE A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children. 10862088

2000