Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833980
rs386833980
A 0.700 CausalMutation CLINVAR Proteolytic processing of the neuronal ceroid lipofuscinosis related lysosomal protein CLN5. 26342652

2015

dbSNP: rs386833966
rs386833966
A 0.700 CausalMutation CLINVAR The role of N-glycosylation in folding, trafficking, and functionality of lysosomal protein CLN5. 24058541

2013

dbSNP: rs386833966
rs386833966
A 0.700 CausalMutation CLINVAR Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. 24038957

2013

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

2013

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

2013

dbSNP: rs386833980
rs386833980
A 0.700 CausalMutation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165

2013

dbSNP: rs546989392
rs546989392
T 0.700 CausalMutation CLINVAR Molecular epidemiology of childhood neuronal ceroid-lipofuscinosis in Italy. 23374165

2013

dbSNP: rs386833967
rs386833967
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
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: rs786204644
rs786204644
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: rs386833966
rs386833966
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
A 0.700 CausalMutation CLINVAR CLN5 mutations are frequent in juvenile and late-onset non-Finnish patients with NCL. 20157158

2010

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

2010

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

2010

dbSNP: rs386833980
rs386833980
A 0.700 CausalMutation CLINVAR Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis. 19201763

2009

dbSNP: rs386833967
rs386833967
C 0.700 CausalMutation CLINVAR Gene symbol: CLN5. Disease: Neuronal Ceroid Lipofuscinosis, finnish variant. 20960652

2008

dbSNP: rs386833966
rs386833966
A 0.700 CausalMutation CLINVAR Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein. 11971870

2002

dbSNP: rs386833969
rs386833969
C 0.700 CausalMutation CLINVAR Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. 12134079

2002

dbSNP: rs386833969
rs386833969
C 0.700 CausalMutation CLINVAR Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein. 11971870

2002

dbSNP: rs386833966
rs386833966
A 0.700 CausalMutation CLINVAR CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. 9662406

1998

dbSNP: rs786204644
rs786204644
A 0.700 CausalMutation CLINVAR CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. 9662406

1998

dbSNP: rs104894385
rs104894385
A 0.700 CausalMutation CLINVAR

dbSNP: rs104894386
rs104894386
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555273604
rs1555273604
GTGGATCCGGGC 0.700 CausalMutation CLINVAR

dbSNP: rs1555273881
rs1555273881
T 0.700 CausalMutation CLINVAR