Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 GeneticVariation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 CausalMutation CLINVAR Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. 25940036

2015
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 GeneticVariation CLINVAR Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. 25940036

2015
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 CausalMutation CLINVAR The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase. 24718418

2014
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 GeneticVariation CLINVAR Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants. 24966162

2014
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 GeneticVariation CLINVAR The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase. 24718418

2014
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 GeneticVariation CLINVAR In vitro and in vivo consequences of variant medium-chain acyl-CoA dehydrogenase genotypes. 23509891

2013
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 CausalMutation 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: rs121434280
rs121434280
ACADM
C 0.800 CausalMutation CLINVAR Medium chain acyl-CoA dehydrogenase deficiency detected among Hispanics by New Jersey newborn screening. 22848008

2012
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 GeneticVariation CLINVAR Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variants. 23028790

2012
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 CausalMutation CLINVAR Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies. 22166308

2011
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 CausalMutation CLINVAR Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. 20036593

2010
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 CausalMutation CLINVAR Here, we describe the classification of genotypes harboring at least one VUS through the comparison of C8 and HG values measured in individuals who are carriers of, or affected with, MCAD deficiency on the basis of the following genotypes: c.985A>G/wildtype, c.199T>C/c.985A>G and c.985A>G/c.985A>G. 20434380

2010
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 CausalMutation CLINVAR Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening. 19224950

2009
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 GeneticVariation CLINVAR Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected]. 19780764

2009
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 GeneticVariation CLINVAR Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening. 19224950

2009
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 CausalMutation CLINVAR Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency. 18188679

2008
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 CausalMutation CLINVAR Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. 16291504

2006
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 CausalMutation CLINVAR Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. 15832312

2005
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 CausalMutation CLINVAR The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive. 15479234

2004
dbSNP: rs121434280
rs121434280
ACADM
C 0.800 GeneticVariation CLINVAR The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive. 15479234

2004
dbSNP: rs121434280
rs121434280
ACADM
0.800 GeneticVariation UNIPROT Molecular and functional characterisation of mild MCAD deficiency. 11409868

2001
dbSNP: rs121434280
rs121434280
ACADM
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: rs121434280
rs121434280
ACADM
C 0.800 GeneticVariation CLINVAR Molecular and functional characterisation of mild MCAD deficiency. 11409868

2001
dbSNP: rs121434280
rs121434280
ACADM
0.800 GeneticVariation UNIPROT Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency. 11486912

2001