Gene: ACADVL ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085307648
rs1085307648
ACADVL ; MIR324
T 0.710 GeneticVariation CLINVAR Characterization of CoQ₁₀ biosynthesis in fibroblasts of patients with primary and secondary CoQ₁₀ deficiency. 23774949

2014
dbSNP: rs1085307648
rs1085307648
ACADVL ; MIR324
T 0.710 GeneticVariation CLINVAR High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene. 20480395

2010
dbSNP: rs1085307648
rs1085307648
ACADVL ; MIR324
T 0.710 GeneticVariation CLINVAR Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency. 16464760

2005
dbSNP: rs1085307648
rs1085307648
ACADVL ; MIR324
T 0.710 GeneticVariation CLINVAR A new diagnostic test for VLCAD deficiency using immunohistochemistry. 15210884

2004
dbSNP: rs1057520507
rs1057520507
ACADVL ; DVL2 ; MIR324
T 0.700 CausalMutation CLINVAR Next generation sequencing as a follow-up test in an expanded newborn screening programme. 29111448

2018
dbSNP: rs745832866
rs745832866
ACADVL ; MIR324
T 0.700 GeneticVariation CLINVAR Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers. 28755359

2018
dbSNP: rs786204536
rs786204536
ACADVL ; DLG4
T 0.700 CausalMutation CLINVAR Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan. 29552494

2018
dbSNP: rs761204548
rs761204548
ACADVL
C 0.700 CausalMutation CLINVAR Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literature. 27995075

2017
dbSNP: rs1057520507
rs1057520507
ACADVL ; DVL2 ; MIR324
T 0.700 CausalMutation CLINVAR A Novel Missense Mutation in Very Long-chain Acyl-CoA Dehydrogenase Deficiency. 27029698

2016
dbSNP: rs112406105
rs112406105
ACADVL ; MIR324
A 0.700 CausalMutation CLINVAR VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. 27246109

2016
dbSNP: rs113690956
rs113690956
ACADVL ; MIR324
A 0.700 CausalMutation CLINVAR Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. 27209629

2016
dbSNP: rs149467828
rs149467828
ACADVL
A 0.700 GeneticVariation CLINVAR Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. 27209629

2016
dbSNP: rs1555529048
rs1555529048
ACADVL ; MIR324
C 0.700 GeneticVariation CLINVAR Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation. 26927351

2016
dbSNP: rs200771970
rs200771970
ACADVL ; MIR324
A 0.700 GeneticVariation CLINVAR Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. 27209629

2016
dbSNP: rs200788251
rs200788251
ACADVL
A 0.700 CausalMutation CLINVAR VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. 27246109

2016
dbSNP: rs200788251
rs200788251
ACADVL
A 0.700 CausalMutation CLINVAR Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. 27209629

2016
dbSNP: rs200788251
rs200788251
ACADVL
A 0.700 GeneticVariation CLINVAR Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. 27209629

2016
dbSNP: rs2309689
rs2309689
ACADVL ; MIR324
A 0.700 CausalMutation CLINVAR VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. 27246109

2016
dbSNP: rs387906249
rs387906249
ACADVL ; DLG4
A 0.700 CausalMutation CLINVAR VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. 27246109

2016
dbSNP: rs398123092
rs398123092
ACADVL
C 0.700 CausalMutation CLINVAR VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. 27246109

2016
dbSNP: rs745832866
rs745832866
ACADVL ; MIR324
T 0.700 GeneticVariation CLINVAR VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. 27246109

2016
dbSNP: rs771808680
rs771808680
ACADVL ; DLG4
T 0.700 GeneticVariation CLINVAR The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency. 26453363

2016
dbSNP: rs771874163
rs771874163
ACADVL ; MIR324
T 0.700 CausalMutation CLINVAR VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. 27246109

2016
dbSNP: rs779901247
rs779901247
ACADVL ; MIR324
G 0.700 GeneticVariation CLINVAR Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database. 27209629

2016
dbSNP: rs786204536
rs786204536
ACADVL ; DLG4
T 0.700 CausalMutation CLINVAR VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. 27246109

2016