| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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|
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | GeneticVariation | CLINVAR | PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. | 24610330 | 2014 | ||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
A | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
TAAAA | 0.700 | CausalMutation | CLINVAR | |||||||||
|
|
|
C | 0.700 | GeneticVariation | CLINVAR | PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. | 24610330 | 2014 | ||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. | 24610330 | 2014 | ||||||
|
|
|
T | 0.700 | CausalMutation | CLINVAR | PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome. | 24610330 | 2014 | ||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. | 12234283 | 2002 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients. | 11748844 | 2001 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. | 15635077 | 2005 | |||||||
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|
|
0.800 | GeneticVariation | UNIPROT | Mutations of the basic amino acid transporter gene associated with cystinuria. | 7575432 | 1995 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Identification of two novel mutations [P122S (364C>T) and 1601delAC] in the SLC3A1 gene in type I cystinurics. | 10738006 | 2000 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients. | 19782624 | 2010 | |||||||
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|
|
0.800 | GeneticVariation | UNIPROT | Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. | 7573036 | 1995 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Mutations in the SLC3A1 transporter gene in cystinuria. | 7539209 | 1995 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Clinical utility gene card for: Cystinuria. | 21863055 | 2012 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus of the transporter. | 16609684 | 2006 | |||||||
|
|
|
C | 0.800 | CausalMutation | CLINVAR | |||||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine. | 8054986 | 1994 | |||||||
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|
|
0.800 | GeneticVariation | UNIPROT | Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria. | 9186880 | 1997 | |||||||
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|
|
0.800 | GeneticVariation | UNIPROT | Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients. | 16138908 | 2005 | |||||||
|
|
|
0.800 | GeneticVariation | UNIPROT | Molecular genetics of cystinuria: identification of four new mutations and seven polymorphisms, and evidence for genetic heterogeneity. | 7573036 | 1995 |