Gene: TPP1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908195
rs121908195
TPP1
G 0.800 GeneticVariation CLINVAR Clinical application of whole-exome sequencing across clinical indications. 26633542

2016
dbSNP: rs121908195
rs121908195
TPP1
T 0.800 CausalMutation CLINVAR Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). 23418007

2013
dbSNP: rs121908202
rs121908202
TPP1
A 0.800 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: rs119455954
rs119455954
TPP1
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: rs121908195
rs121908195
TPP1
T 0.800 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: rs121908202
rs121908202
TPP1
A 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: rs121908204
rs121908204
TPP1
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: rs121908195
rs121908195
TPP1
T 0.800 CausalMutation CLINVAR Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139

2010
dbSNP: rs121908195
rs121908195
TPP1
G 0.800 GeneticVariation CLINVAR Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139

2010
dbSNP: rs121908202
rs121908202
TPP1
A 0.800 GeneticVariation CLINVAR Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139

2010
dbSNP: rs121908204
rs121908204
TPP1
T 0.800 GeneticVariation CLINVAR Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139

2010
dbSNP: rs121908205
rs121908205
TPP1
A 0.800 GeneticVariation CLINVAR Functional consequences and rescue potential of pathogenic missense mutations in tripeptidyl peptidase I. 20340139

2010
dbSNP: rs119455954
rs119455954
TPP1
T 0.800 CausalMutation CLINVAR Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. 19038966

2009
dbSNP: rs119455954
rs119455954
TPP1
T 0.800 GeneticVariation CLINVAR Lysosomal serine protease CLN2 regulates tumor necrosis factor-alpha-mediated apoptosis in a Bid-dependent manner. 19246452

2009
dbSNP: rs119455954
rs119455954
TPP1
T 0.800 GeneticVariation CLINVAR Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. 19038966

2009
dbSNP: rs119455954
rs119455954
TPP1
T 0.800 GeneticVariation CLINVAR Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis. 19038967

2009
dbSNP: rs121908195
rs121908195
TPP1
G 0.800 GeneticVariation CLINVAR Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. 19038966

2009
dbSNP: rs121908195
rs121908195
TPP1
T 0.800 CausalMutation CLINVAR Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. 19038966

2009
dbSNP: rs121908202
rs121908202
TPP1
A 0.800 GeneticVariation CLINVAR Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. 19038966

2009
dbSNP: rs121908205
rs121908205
TPP1
A 0.800 GeneticVariation CLINVAR Crystal structure and autoactivation pathway of the precursor form of human tripeptidyl-peptidase 1, the enzyme deficient in late infantile ceroid lipofuscinosis. 19038967

2009
dbSNP: rs121908205
rs121908205
TPP1
A 0.800 GeneticVariation CLINVAR Structure of tripeptidyl-peptidase I provides insight into the molecular basis of late infantile neuronal ceroid lipofuscinosis. 19038966

2009
dbSNP: rs121908195
rs121908195
TPP1
G 0.800 GeneticVariation CLINVAR Prosegment of tripeptidyl peptidase I is a potent, slow-binding inhibitor of its cognate enzyme. 18411270

2008
dbSNP: rs121908204
rs121908204
TPP1
T 0.800 GeneticVariation CLINVAR Neurological deterioration in late infantile neuronal ceroid lipofuscinosis. 17679671

2007
dbSNP: rs121908204
rs121908204
TPP1
T 0.800 GeneticVariation CLINVAR Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes. 15317752

2004
dbSNP: rs121908205
rs121908205
TPP1
A 0.800 GeneticVariation CLINVAR R208X mutation in CLN2 gene associated with reduced cerebrospinal fluid pterins in a girl with classic late infantile neuronal ceroid lipofuscinosis. 12950156

2003