Gene: ACADVL ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118204016
rs118204016
ACADVL ; MIR324
A 0.810 CausalMutation CLINVAR

dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 CausalMutation CLINVAR Development of a Tandem Mass Spectrometry Method for Rapid Measurement of Medium- and Very-Long-Chain Acyl-CoA Dehydrogenase Activity in Fibroblasts. 27943070

2017
dbSNP: rs369560930
rs369560930
ACADVL ; DLG4
A 0.800 GeneticVariation CLINVAR Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency. 26881790

2016
dbSNP: rs759775666
rs759775666
ACADVL ; MIR324
C 0.800 GeneticVariation CLINVAR The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency. 26453363

2016
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 GeneticVariation CLINVAR Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results. 25087612

2014
dbSNP: rs140629318
rs140629318
ACADVL ; DLG4
A 0.800 GeneticVariation CLINVAR Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency. 24801231

2014
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 GeneticVariation CLINVAR VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment. 21932095

2012
dbSNP: rs369560930
rs369560930
ACADVL ; DLG4
A 0.800 GeneticVariation CLINVAR Successful weight loss in two adult patients diagnosed with late-onset long-chain Fatty Acid oxidation defect. 23430950

2012
dbSNP: rs545215807
rs545215807
ACADVL ; DLG4
A 0.800 GeneticVariation CLINVAR Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay. 22841441

2012
dbSNP: rs545215807
rs545215807
ACADVL ; DLG4
A 0.800 GeneticVariation CLINVAR VLCAD enzyme activity determinations in newborns identified by screening: a valuable tool for risk assessment. 21932095

2012
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 GeneticVariation CLINVAR Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches. 20060901

2010
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 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: rs369560930
rs369560930
ACADVL ; DLG4
A 0.800 GeneticVariation CLINVAR Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches. 20060901

2010
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 GeneticVariation CLINVAR Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. 19327992

2009
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 CausalMutation CLINVAR Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. 19327992

2009
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 GeneticVariation CLINVAR Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. 19327992

2009
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 CausalMutation CLINVAR Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. 19327992

2009
dbSNP: rs369560930
rs369560930
ACADVL ; DLG4
A 0.800 GeneticVariation CLINVAR Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan. 18670371

2008
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 CausalMutation CLINVAR Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system. 17374501

2007
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 GeneticVariation CLINVAR Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system. 17374501

2007
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 CausalMutation CLINVAR Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system. 17374501

2007
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 GeneticVariation CLINVAR Expression and characterization of mutations in human very long-chain acyl-CoA dehydrogenase using a prokaryotic system. 17374501

2007
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 CausalMutation CLINVAR Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy. 17999356

2007
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 GeneticVariation CLINVAR Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy. 17999356

2007
dbSNP: rs369560930
rs369560930
ACADVL ; DLG4
A 0.800 GeneticVariation CLINVAR Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy. 17999356

2007