Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747268471
rs747268471
A 0.800 CausalMutation CLINVAR In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes. 23509891

2013

dbSNP: rs747268471
rs747268471
A 0.800 GeneticVariation CLINVAR Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. 22630369

2012

dbSNP: rs747268471
rs747268471
A 0.800 CausalMutation CLINVAR Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. 20434380

2010

dbSNP: rs747268471
rs747268471
A 0.800 GeneticVariation CLINVAR Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. 20434380

2010

dbSNP: rs747268471
rs747268471
A 0.800 GeneticVariation CLINVAR Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population. 18241067

2008

dbSNP: rs747268471
rs747268471
A 0.800 CausalMutation CLINVAR Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population. 18241067

2008

dbSNP: rs747268471
rs747268471
0.800 GeneticVariation UNIPROT Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. 11486912

2001

dbSNP: rs747268471
rs747268471
A 0.800 GeneticVariation CLINVAR Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. 11349232

2001

dbSNP: rs747268471
rs747268471
A 0.800 CausalMutation CLINVAR Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. 11349232

2001

dbSNP: rs747268471
rs747268471
0.800 GeneticVariation UNIPROT Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. 11349232

2001

dbSNP: rs747268471
rs747268471
0.800 GeneticVariation UNIPROT Molecular and functional characterisation of mild MCAD deficiency. 11409868

2001

dbSNP: rs747268471
rs747268471
0.800 GeneticVariation UNIPROT Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. 10767181

2000

dbSNP: rs747268471
rs747268471
0.800 GeneticVariation UNIPROT Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site. 9882619

1999

dbSNP: rs747268471
rs747268471
0.800 GeneticVariation UNIPROT The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? 9158144

1997

dbSNP: rs747268471
rs747268471
0.800 GeneticVariation UNIPROT Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. 7603790

1995

dbSNP: rs747268471
rs747268471
0.800 GeneticVariation UNIPROT Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene. 8198141

1994

dbSNP: rs747268471
rs747268471
0.800 GeneticVariation UNIPROT A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death. 7929823

1994

dbSNP: rs747268471
rs747268471
0.800 GeneticVariation UNIPROT Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. 1363805

1992

dbSNP: rs747268471
rs747268471
0.800 GeneticVariation UNIPROT Frequency of the G985 MCAD mutation in the general population. 1671131

1991

dbSNP: rs747268471
rs747268471
0.800 GeneticVariation UNIPROT Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli. 1902818

1991

dbSNP: rs747268471
rs747268471
0.800 GeneticVariation UNIPROT Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. 1684086

1991

dbSNP: rs747268471
rs747268471
0.800 GeneticVariation UNIPROT Identification of a common mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency. 2393404

1990

dbSNP: rs747268471
rs747268471
0.800 GeneticVariation UNIPROT Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency. 2251268

1990

dbSNP: rs747268471
rs747268471
0.800 GeneticVariation UNIPROT Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation. 2394825

1990