Gene: SLC22A5 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs60376624
rs60376624
SLC22A5
G 0.810 CausalMutation CLINVAR Genotype-phenotype correlation in primary carnitine deficiency. 21922592

2012
dbSNP: rs60376624
rs60376624
SLC22A5
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
dbSNP: rs60376624
rs60376624
SLC22A5
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
dbSNP: rs60376624
rs60376624
SLC22A5
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
dbSNP: rs60376624
rs60376624
SLC22A5
G 0.810 GeneticVariation CLINVAR Genetic variations of the SLC22A5 gene in the Chinese and Indian populations of Singapore. 20208395

2010
dbSNP: rs60376624
rs60376624
SLC22A5
G 0.810 CausalMutation CLINVAR Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985

2010
dbSNP: rs60376624
rs60376624
SLC22A5
G 0.810 CausalMutation CLINVAR Studies on functional sites of organic cation/carnitine transporter OCTN2 (SLC22A5) using a Ser467Cys mutant protein. 12183691

2002
dbSNP: rs60376624
rs60376624
SLC22A5
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
dbSNP: rs60376624
rs60376624
SLC22A5
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
dbSNP: rs151231558
rs151231558
SLC22A5
T 0.800 CausalMutation CLINVAR Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project. 30609409

2019
dbSNP: rs151231558
rs151231558
SLC22A5
T 0.800 CausalMutation CLINVAR Genomic sequencing identifies secondary findings in a cohort of parent study participants. 29790872

2018
dbSNP: rs121908889
rs121908889
SLC22A5
A 0.800 CausalMutation CLINVAR 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: rs151231558
rs151231558
SLC22A5
T 0.800 CausalMutation CLINVAR Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California. 28711408

2017
dbSNP: rs151231558
rs151231558
SLC22A5
T 0.800 CausalMutation CLINVAR Functional and molecular studies in primary carnitine deficiency. 28841266

2017
dbSNP: rs185551386
rs185551386
SLC22A5
A 0.800 GeneticVariation CLINVAR Functional and molecular studies in primary carnitine deficiency. 28841266

2017
dbSNP: rs267607054
rs267607054
SLC22A5
T 0.800 CausalMutation CLINVAR Functional and molecular studies in primary carnitine deficiency. 28841266

2017
dbSNP: rs267607054
rs267607054
SLC22A5
T 0.800 GeneticVariation CLINVAR Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California. 28711408

2017
dbSNP: rs267607054
rs267607054
SLC22A5
T 0.800 GeneticVariation CLINVAR Functional and molecular studies in primary carnitine deficiency. 28841266

2017
dbSNP: rs386134218
rs386134218
SLC22A5
G 0.800 CausalMutation CLINVAR Functional and molecular studies in primary carnitine deficiency. 28841266

2017
dbSNP: rs121908889
rs121908889
SLC22A5
A 0.800 CausalMutation CLINVAR Carnitine transport and fatty acid oxidation. 26828774

2016
dbSNP: rs185551386
rs185551386
SLC22A5
A 0.800 CausalMutation CLINVAR Carnitine transport and fatty acid oxidation. 26828774

2016
dbSNP: rs267607054
rs267607054
SLC22A5
T 0.800 CausalMutation CLINVAR Primary Carnitine Deficiency and Newborn Screening for Disorders of the Carnitine Cycle. 27931018

2016
dbSNP: rs72552726
rs72552726
SLC22A5 ; MIR3936HG
T 0.800 CausalMutation CLINVAR Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014). 26589311

2016
dbSNP: rs749282641
rs749282641
SLC22A5
T 0.800 CausalMutation CLINVAR Carnitine deficiency induces a short QT syndrome. 26190315

2016