Gene: SLC22A5 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72552725
rs72552725
SLC22A5 ; MIR3936HG
G 0.800 CausalMutation CLINVAR Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency. 25846890

2015
dbSNP: rs72552725
rs72552725
SLC22A5 ; MIR3936HG
G 0.800 CausalMutation CLINVAR Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementation. 25665836

2015
dbSNP: rs72552732
rs72552732
SLC22A5
T 0.800 CausalMutation CLINVAR Spectrum of metabolic myopathies. 24997454

2015
dbSNP: rs11568520
rs11568520
SLC22A5 ; MIR3936HG
G 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 CausalMutation CLINVAR Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. 25132046

2014
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 GeneticVariation CLINVAR Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands. 23653224

2014
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 CausalMutation CLINVAR Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands. 23653224

2014
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 CausalMutation CLINVAR Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening. 23963628

2014
dbSNP: rs267607054
rs267607054
SLC22A5
T 0.800 CausalMutation CLINVAR Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. 25132046

2014
dbSNP: rs267607054
rs267607054
SLC22A5
T 0.800 GeneticVariation CLINVAR Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. 25132046

2014
dbSNP: rs72552725
rs72552725
SLC22A5 ; MIR3936HG
G 0.800 CausalMutation CLINVAR Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands. 23653224

2014
dbSNP: rs72552725
rs72552725
SLC22A5 ; MIR3936HG
G 0.800 CausalMutation CLINVAR Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency. 27896095

2014
dbSNP: rs72552725
rs72552725
SLC22A5 ; MIR3936HG
G 0.800 CausalMutation CLINVAR Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening. 23963628

2014
dbSNP: rs72552726
rs72552726
SLC22A5 ; MIR3936HG
T 0.800 CausalMutation CLINVAR Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. 25132046

2014
dbSNP: rs72552726
rs72552726
SLC22A5 ; MIR3936HG
T 0.800 GeneticVariation CLINVAR Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. 25132046

2014
dbSNP: rs72552726
rs72552726
SLC22A5 ; MIR3936HG
T 0.800 GeneticVariation CLINVAR Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates. 24516753

2014
dbSNP: rs749282641
rs749282641
SLC22A5
T 0.800 CausalMutation CLINVAR Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. 25132046

2014
dbSNP: rs11568520
rs11568520
SLC22A5 ; MIR3936HG
G 0.800 CausalMutation CLINVAR Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. 23520115

2013
dbSNP: rs151231558
rs151231558
SLC22A5
T 0.800 GeneticVariation CLINVAR Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. 23798014

2013
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 GeneticVariation CLINVAR Transient carnitine deficiency was not likely anymore and DNA mutation analysis of the OCTN2 (SLC22A5) gene showed a homozygous c.136C>T (p.P46S) mutation, confirming the diagnosis of primary carnitine deficiency. 23430798

2013
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 CausalMutation CLINVAR Transient carnitine deficiency was not likely anymore and DNA mutation analysis of the OCTN2 (SLC22A5) gene showed a homozygous c.136C>T (p.P46S) mutation, confirming the diagnosis of primary carnitine deficiency. 23430798

2013
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 CausalMutation CLINVAR Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. 23520115

2013
dbSNP: rs202088921
rs202088921
SLC22A5 ; MIR3936HG
T 0.800 GeneticVariation CLINVAR Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. 23520115

2013
dbSNP: rs121908889
rs121908889
SLC22A5
A 0.800 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: rs121908889
rs121908889
SLC22A5
A 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