Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894060
rs104894060
0.800 GeneticVariation UNIPROT Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan. 26443629

2016

dbSNP: rs104894060
rs104894060
T 0.800 GeneticVariation 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: rs104894060
rs104894060
0.800 GeneticVariation UNIPROT Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. 21990111

2012

dbSNP: rs104894060
rs104894060
0.800 GeneticVariation UNIPROT Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. 19807737

2010

dbSNP: rs104894060
rs104894060
0.800 GeneticVariation UNIPROT A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. 19431184

2009

dbSNP: rs104894060
rs104894060
0.800 GeneticVariation UNIPROT Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009

dbSNP: rs104894060
rs104894060
0.800 GeneticVariation UNIPROT Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean. 16570191

2006

dbSNP: rs104894060
rs104894060
T 0.800 GeneticVariation CLINVAR Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells. 15160397

2004

dbSNP: rs104894060
rs104894060
T 0.800 GeneticVariation CLINVAR Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. 15024724

2004

dbSNP: rs104894060
rs104894060
0.800 GeneticVariation UNIPROT Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. 15024724

2004

dbSNP: rs104894060
rs104894060
T 0.800 CausalMutation CLINVAR