Gene: CTNS ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555563010
rs1555563010
CTNS ; LOC105371492
G 0.800 GeneticVariation CLINVAR Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey. 28276207

2016
dbSNP: rs121908127
rs121908127
CTNS
A 0.800 CausalMutation CLINVAR Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis. 24464559

2014
dbSNP: rs121908127
rs121908127
CTNS
A 0.800 CausalMutation CLINVAR Genetic basis of cystinosis in Turkish patients: a single-center experience. 21786142

2012
dbSNP: rs121908127
rs121908127
CTNS
A 0.800 CausalMutation CLINVAR Analysis of the CTNS gene in 32 cystinosis patients from Spain. 19863563

2009
dbSNP: rs121908127
rs121908127
CTNS
A 0.800 CausalMutation CLINVAR Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. 15128704

2004
dbSNP: rs121908127
rs121908127
CTNS
A 0.800 CausalMutation CLINVAR Mutational spectrum of the CTNS gene in Italy. 12825071

2003
dbSNP: rs121908127
rs121908127
CTNS
A 0.800 CausalMutation CLINVAR Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. 12442267

2002
dbSNP: rs121908127
rs121908127
CTNS
A 0.800 CausalMutation CLINVAR Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. 12204010

2002
dbSNP: rs746307931
rs746307931
CTNS ; LOC105371492
A 0.800 CausalMutation CLINVAR Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. 12204010

2002
dbSNP: rs121908127
rs121908127
CTNS
A 0.800 CausalMutation CLINVAR A G339R mutation in the CTNS gene is a common cause of nephropathic cystinosis in the south western Ontario Amish Mennonite population. 11565547

2001
dbSNP: rs746307931
rs746307931
CTNS ; LOC105371492
A 0.800 CausalMutation CLINVAR Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter. 11689434

2001
dbSNP: rs121908127
rs121908127
CTNS
A 0.800 CausalMutation CLINVAR Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. 10556299

1999
dbSNP: rs121908127
rs121908127
CTNS
A 0.800 CausalMutation CLINVAR CTNS mutations in an American-based population of cystinosis patients. 9792862

1998
dbSNP: rs746307931
rs746307931
CTNS ; LOC105371492
A 0.800 CausalMutation CLINVAR CTNS mutations in an American-based population of cystinosis patients. 9792862

1998
dbSNP: rs121908126
rs121908126
CTNS ; LOC105371492
A 0.800 CausalMutation CLINVAR

dbSNP: rs113994205
rs113994205
CTNS ; LOC105371492
A 0.720 CausalMutation CLINVAR Homozygosity for a nonsense mutation in CTNS (753G -->A), encoding a premature termination codon (PTC) at amino acid 138 (W138X), results in nephropathic cystinosis. 11855931

2002
dbSNP: rs113994205
rs113994205
CTNS ; LOC105371492
A 0.720 CausalMutation CLINVAR Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation. 10482956

1999
dbSNP: rs113994205
rs113994205
CTNS ; LOC105371492
A 0.720 CausalMutation CLINVAR A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. 9537412

1998
dbSNP: rs113994205
rs113994205
CTNS ; LOC105371492
A 0.720 CausalMutation CLINVAR Mutation analysis of 108 American-based nephropathic cystinosis patients revealed that 48 patients (44%) were homozygous for the 65-kb deletion, 2 had a smaller major deletion, 11 were homozygous and 3 were heterozygous for 753G-->A (W138X), and 24 had 21 other mutations. 9792862

1998
dbSNP: rs1555564588
rs1555564588
CTNS ; LOC105371492
A 0.700 GeneticVariation CLINVAR Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation. 29421779

2018
dbSNP: rs879255615
rs879255615
CTNS ; LOC105371492
C 0.700 GeneticVariation CLINVAR CTNS molecular genetics profile in a Persian nephropathic cystinosis population. 28238446

2018
dbSNP: rs893207601
rs893207601
CTNS ; LOC105371492
CA 0.700 CausalMutation CLINVAR Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital. 27858370

2017
dbSNP: rs917630768
rs917630768
CTNS ; LOC105371492
A 0.700 CausalMutation CLINVAR Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis. 26565940

2017
dbSNP: rs113994211
rs113994211
CTNS ; LOC105371492
G 0.700 CausalMutation CLINVAR Cystinosis: a review. 27102039

2016
dbSNP: rs745365232
rs745365232
CTNS ; LOC105371492
T 0.700 CausalMutation CLINVAR Ca(2+) signalling in human proximal tubular epithelial cells deficient for cystinosin. 27451386

2016