Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908890
rs121908890
SLC22A5
0.800 GeneticVariation UNIPROT Functional and molecular studies in primary carnitine deficiency. 28841266

2017
dbSNP: rs121908890
rs121908890
SLC22A5
T 0.800 CausalMutation CLINVAR Functional and molecular studies in primary carnitine deficiency. 28841266

2017
dbSNP: rs121908890
rs121908890
SLC22A5
T 0.800 CausalMutation CLINVAR Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. 25132046

2014
dbSNP: rs121908890
rs121908890
SLC22A5
T 0.800 GeneticVariation CLINVAR Genotype-phenotype correlation in primary carnitine deficiency. 21922592

2012
dbSNP: rs121908890
rs121908890
SLC22A5
0.800 GeneticVariation UNIPROT Genotype-phenotype correlation in primary carnitine deficiency. 21922592

2012
dbSNP: rs121908890
rs121908890
SLC22A5
T 0.800 CausalMutation CLINVAR SLC22A5 mutations in a patient with systemic primary carnitine deficiency: the first Korean case confirmed by biochemical and molecular investigation. 23090741

2012
dbSNP: rs121908890
rs121908890
SLC22A5
T 0.800 CausalMutation CLINVAR Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985

2010
dbSNP: rs121908890
rs121908890
SLC22A5
0.800 GeneticVariation UNIPROT Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985

2010
dbSNP: rs121908890
rs121908890
SLC22A5
0.800 GeneticVariation UNIPROT Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. 20074989

2010
dbSNP: rs121908890
rs121908890
SLC22A5
0.800 GeneticVariation UNIPROT Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. 20027113

2010
dbSNP: rs121908890
rs121908890
SLC22A5
T 0.800 GeneticVariation CLINVAR Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985

2010
dbSNP: rs121908890
rs121908890
SLC22A5
0.800 GeneticVariation UNIPROT Expanded newborn screening identifies maternal primary carnitine deficiency. 17126586

2007
dbSNP: rs121908890
rs121908890
SLC22A5
0.800 GeneticVariation UNIPROT Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). 16931768

2006
dbSNP: rs121908890
rs121908890
SLC22A5
T 0.800 GeneticVariation CLINVAR Pharmacological rescue of carnitine transport in primary carnitine deficiency. 16652335

2006
dbSNP: rs121908890
rs121908890
SLC22A5
0.800 GeneticVariation UNIPROT Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. 15714519

2005
dbSNP: rs121908890
rs121908890
SLC22A5
0.800 GeneticVariation UNIPROT Carnitine transporter defect due to a novel mutation in the SLC22A5 gene presenting with peripheral neuropathy. 15617188

2004
dbSNP: rs121908890
rs121908890
SLC22A5
T 0.800 GeneticVariation CLINVAR Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. 12210323

2002
dbSNP: rs121908890
rs121908890
SLC22A5
0.800 GeneticVariation UNIPROT Phenotype and genotype variation in primary carnitine deficiency. 11715001

2002
dbSNP: rs121908890
rs121908890
SLC22A5
T 0.800 CausalMutation CLINVAR Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. 12210323

2002
dbSNP: rs121908890
rs121908890
SLC22A5
T 0.800 CausalMutation CLINVAR Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation. 11058897

2000
dbSNP: rs121908890
rs121908890
SLC22A5
0.800 GeneticVariation UNIPROT Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation. 11058897

2000
dbSNP: rs121908890
rs121908890
SLC22A5
0.800 GeneticVariation UNIPROT Two novel missense mutations of the OCTN2 gene (W283R and V446F) in a patient with primary systemic carnitine deficiency. 10612840

2000
dbSNP: rs121908890
rs121908890
SLC22A5
0.800 GeneticVariation UNIPROT A missense mutation in the OCTN2 gene associated with residual carnitine transport activity. 10679939

2000
dbSNP: rs121908890
rs121908890
SLC22A5
T 0.800 GeneticVariation CLINVAR Functional analysis of mutations in the OCTN2 transporter causing primary carnitine deficiency: lack of genotype-phenotype correlation. 11058897

2000
dbSNP: rs121908890
rs121908890
SLC22A5
0.800 GeneticVariation UNIPROT Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency. 10480371

1999