Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833968
rs386833968
CLN5 ; FBXL3
0.700 GeneticVariation UNIPROT Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652

2015
dbSNP: rs386833980
rs386833980
CLN5 ; FBXL3
A 0.700 GeneticVariation CLINVAR Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652

2015
dbSNP: rs869312751
rs869312751
CLN5 ; FBXL3
T 0.700 CausalMutation CLINVAR Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652

2015
dbSNP: rs121908292
rs121908292
CLN5 ; FBXL3
T 0.700 GeneticVariation CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957

2013
dbSNP: rs1555274373
rs1555274373
CLN5 ; FBXL3
G 0.700 GeneticVariation CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957

2013
dbSNP: rs1555274387
rs1555274387
CLN5 ; FBXL3
G 0.700 GeneticVariation CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957

2013
dbSNP: rs386833968
rs386833968
CLN5 ; FBXL3
0.700 GeneticVariation UNIPROT Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957

2013
dbSNP: rs386833968
rs386833968
CLN5 ; FBXL3
0.700 GeneticVariation UNIPROT The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. 24058541

2013
dbSNP: rs386833969
rs386833969
CLN5 ; FBXL3
C 0.700 CausalMutation CLINVAR The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. 24058541

2013
dbSNP: rs386833969
rs386833969
CLN5 ; FBXL3
C 0.700 CausalMutation CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957

2013
dbSNP: rs546989392
rs546989392
CLN5 ; FBXL3
T 0.700 GeneticVariation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165

2013
dbSNP: rs587780315
rs587780315
CLN5 ; FBXL3
T 0.700 GeneticVariation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165

2013
dbSNP: rs386833968
rs386833968
CLN5 ; FBXL3
0.700 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: rs386833971
rs386833971
CLN5 ; FBXL3
T 0.700 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: rs386833972
rs386833972
CLN5 ; FBXL3
G 0.700 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: rs386833979
rs386833979
CLN5 ; FBXL3
AC 0.700 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: rs386833980
rs386833980
CLN5 ; FBXL3
A 0.700 GeneticVariation CLINVAR An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation. 22727047

2012
dbSNP: rs386833980
rs386833980
CLN5 ; FBXL3
A 0.700 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: rs786204644
rs786204644
CLN5 ; FBXL3
A 0.700 GeneticVariation CLINVAR [Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]. 22532218

2012
dbSNP: rs869312751
rs869312751
CLN5 ; FBXL3
T 0.700 CausalMutation CLINVAR CLN5 and CLN8 protein association with ceramide synthase: biochemical and proteomic approaches. 23160995

2012
dbSNP: rs1555274387
rs1555274387
CLN5 ; FBXL3
G 0.700 GeneticVariation CLINVAR The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. 20052765

2010
dbSNP: rs386833968
rs386833968
CLN5 ; FBXL3
0.700 GeneticVariation UNIPROT The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. 20052765

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: rs386833979
rs386833979
CLN5 ; FBXL3
AC 0.700 GeneticVariation CLINVAR The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations. 20052765

2010
dbSNP: rs386833980
rs386833980
CLN5 ; FBXL3
A 0.700 GeneticVariation CLINVAR CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. 20157158

2010