| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.810 | CausalMutation | CLINVAR | Genotype-phenotype correlation in primary carnitine deficiency. | 21922592 | 2012 |
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|
G | 0.810 | GeneticVariation | CLINVAR | SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation. | 23090741 | 2012 |
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|
G | 0.810 | CausalMutation | CLINVAR | SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation. | 23090741 | 2012 |
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|
G | 0.810 | CausalMutation | CLINVAR | Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. | 20574985 | 2010 |
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|
G | 0.810 | CausalMutation | CLINVAR | Analysis of the SLC22A5 gene revealed that p.S467C was the most common mutation in mothers with CUD, while p.R254X was the most common mutation in newborns and children with CUD. | 20074989 | 2010 |
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|
0.810 | GeneticVariation | BEFREE | Analysis of the SLC22A5 gene revealed that p.S467C was the most common mutation in mothers with CUD, while p.R254X was the most common mutation in newborns and children with CUD. | 20074989 | 2010 |
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|
G | 0.810 | GeneticVariation | CLINVAR | Genetic variations of the SLC22A5 gene in the Chinese and Indian populations of Singapore. | 20208395 | 2010 |
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|
G | 0.810 | CausalMutation | CLINVAR | Studies on functional sites of organic cation/carnitine transporter OCTN2 (SLC22A5) using a Ser467Cys mutant protein. | 12183691 | 2002 |
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|
G | 0.810 | GeneticVariation | CLINVAR | Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency. | 10545605 | 1999 |
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|
G | 0.810 | CausalMutation | CLINVAR | Genetic epidemiology of the carnitine transporter OCTN2 gene in a Japanese population and phenotypic characterization in Japanese pedigrees with primary systemic carnitine deficiency. | 10545605 | 1999 |
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|
0.810 | GeneticVariation | UNIPROT |