Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs56144125
rs56144125
TPP1
T 0.700 CausalMutation CLINVAR Late infantile neuronal ceroid lipofuscinosis: mutations in the CLN2 gene and clinical course in Spanish patients. 22832778

2013
dbSNP: rs587776892
rs587776892
DNAJC5
G 0.700 CausalMutation CLINVAR Recurrent mutations in DNAJC5 cause autosomal dominant Kufs disease. 22978711

2013
dbSNP: rs746085696
rs746085696
TPP1
G 0.700 GeneticVariation CLINVAR Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. 23266810

2013
dbSNP: rs759080581
rs759080581
TPP1
A 0.700 CausalMutation CLINVAR Neuronal ceroid lipofuscinosis type CLN2: a new rationale for the construction of phenotypic subgroups based on a survey of 25 cases in South America. 23266810

2013
dbSNP: rs121908202
rs121908202
TPP1
A 0.700 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: rs386833695
rs386833695
CLN3
T 0.700 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: rs386833709
rs386833709
CLN3
A 0.700 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: rs386833967
rs386833967
CLN5 ; FBXL3
C 0.700 CausalMutation CLINVAR [Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]. 22532218

2012
dbSNP: rs386833979
rs386833979
CLN5 ; FBXL3
AC 0.700 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: rs587776892
rs587776892
DNAJC5
G 0.700 CausalMutation CLINVAR Palmitoylation-induced aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis. 22902780

2012
dbSNP: rs587776892
rs587776892
DNAJC5
G 0.700 CausalMutation CLINVAR Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families. 22235333

2012
dbSNP: rs786204644
rs786204644
CLN5 ; FBXL3
A 0.700 CausalMutation CLINVAR [Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]. 22532218

2012
dbSNP: rs386833695
rs386833695
CLN3
T 0.700 CausalMutation CLINVAR Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. 21499717

2011
dbSNP: rs587776892
rs587776892
DNAJC5
G 0.700 CausalMutation CLINVAR Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis. 22073189

2011
dbSNP: rs587776892
rs587776892
DNAJC5
G 0.700 CausalMutation CLINVAR Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis. 21820099

2011
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: rs121908202
rs121908202
TPP1
A 0.700 CausalMutation CLINVAR Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139

2010
dbSNP: rs386833695
rs386833695
CLN3
T 0.700 CausalMutation CLINVAR Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). 20187884

2010
dbSNP: rs386833720
rs386833720
CLN3
A 0.700 CausalMutation CLINVAR Genotype does not predict severity of behavioural phenotype in juvenile neuronal ceroid lipofuscinosis (Batten disease). 20187884

2010
dbSNP: rs386833966
rs386833966
CLN5 ; FBXL3
A 0.700 CausalMutation CLINVAR The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. 20052765

2010
dbSNP: rs386833966
rs386833966
CLN5 ; FBXL3
A 0.700 CausalMutation CLINVAR CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. 20157158

2010
dbSNP: rs386833967
rs386833967
CLN5 ; FBXL3
C 0.700 CausalMutation CLINVAR CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. 20157158

2010
dbSNP: rs386833969
rs386833969
CLN5 ; FBXL3
C 0.700 CausalMutation CLINVAR The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. 20052765

2010
dbSNP: rs202189057
rs202189057
TPP1
T 0.700 CausalMutation CLINVAR An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients. 19793312

2009
dbSNP: rs386833694
rs386833694
CLN3
A 0.700 GeneticVariation CLINVAR The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. 19132115

2009