Gene: ACADVL ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs545215807
rs545215807
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
dbSNP: rs759775666
rs759775666
ACADVL ; MIR324
C 0.800 GeneticVariation 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 CausalMutation CLINVAR Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels. 16950999

2006
dbSNP: rs759775666
rs759775666
ACADVL ; MIR324
C 0.800 GeneticVariation CLINVAR MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. 14517516

2003
dbSNP: rs140629318
rs140629318
ACADVL ; DLG4
A 0.800 GeneticVariation CLINVAR A novel mutation of late-onset very-long-chain acyl-CoA dehydrogenase deficiency. 12213615

2002
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 CausalMutation CLINVAR Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. 9973285

1999
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 GeneticVariation CLINVAR Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. 10077518

1999
dbSNP: rs113994168
rs113994168
ACADVL
T 0.800 GeneticVariation CLINVAR Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. 9973285

1999
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 CausalMutation CLINVAR Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. 10077518

1999
dbSNP: rs140629318
rs140629318
ACADVL ; DLG4
A 0.800 GeneticVariation CLINVAR Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. 10077518

1999
dbSNP: rs369560930
rs369560930
ACADVL ; DLG4
A 0.800 GeneticVariation CLINVAR Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. 9973285

1999
dbSNP: rs545215807
rs545215807
ACADVL ; DLG4
A 0.800 GeneticVariation CLINVAR Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. 9973285

1999
dbSNP: rs759775666
rs759775666
ACADVL ; MIR324
C 0.800 GeneticVariation CLINVAR Molecular heterogeneity in very-long-chain acyl-CoA dehydrogenase deficiency causing pediatric cardiomyopathy and sudden death. 10077518

1999
dbSNP: rs759775666
rs759775666
ACADVL ; MIR324
C 0.800 GeneticVariation CLINVAR Relationship between structure and substrate-chain-length specificity of mitochondrial very-long-chain acyl-coenzyme A dehydrogenase. 9839948

1998
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 GeneticVariation CLINVAR Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. 8554073

1996
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 CausalMutation CLINVAR Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: identification and characterization of mutant VLCAD cDNAs from four patients. 8554073

1996
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 CausalMutation CLINVAR Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. 7479827

1995
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 GeneticVariation CLINVAR Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. 7769092

1995
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 GeneticVariation CLINVAR Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood. 7479827

1995
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 CausalMutation CLINVAR Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. 7769092

1995
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 CausalMutation CLINVAR Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia. 4022672

1985
dbSNP: rs118204014
rs118204014
ACADVL ; DVL2 ; MIR324
T 0.800 GeneticVariation CLINVAR Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia. 4022672

1985
dbSNP: rs369560930
rs369560930
ACADVL ; DLG4
A 0.800 CausalMutation CLINVAR

dbSNP: rs545215807
rs545215807
ACADVL ; DLG4
A 0.800 CausalMutation CLINVAR

dbSNP: rs1085307648
rs1085307648
ACADVL ; MIR324
T 0.710 GeneticVariation CLINVAR Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States. 26385305

2015