Gene: ACADM ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057517356
rs1057517356
ACADM
G 0.700 CausalMutation CLINVAR Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function. 28581210

2017
dbSNP: rs1462472677
rs1462472677
ACADM
G 0.700 GeneticVariation CLINVAR Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. 27308838

2017
dbSNP: rs370523609
rs370523609
ACADM ; DLSTP1
A 0.700 GeneticVariation CLINVAR Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. 27308838

2017
dbSNP: rs770273135
rs770273135
ACADM ; DLSTP1
C 0.700 GeneticVariation CLINVAR Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. 27308838

2017
dbSNP: rs875989857
rs875989857
ACADM
A 0.700 GeneticVariation CLINVAR Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing. 27308838

2017
dbSNP: rs1553127216
rs1553127216
ACADM
C 0.700 CausalMutation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016
dbSNP: rs370523609
rs370523609
ACADM ; DLSTP1
A 0.700 GeneticVariation CLINVAR 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. 27477829

2016
dbSNP: rs398123072
rs398123072
ACADM
T 0.700 GeneticVariation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016
dbSNP: rs398123072
rs398123072
ACADM
T 0.700 CausalMutation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016
dbSNP: rs757434857
rs757434857
ACADM
G 0.700 CausalMutation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016
dbSNP: rs759158371
rs759158371
ACADM
A 0.700 CausalMutation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016
dbSNP: rs760892123
rs760892123
ACADM
C 0.700 CausalMutation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016
dbSNP: rs768884003
rs768884003
ACADM
A 0.700 GeneticVariation CLINVAR 221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. 27477829

2016
dbSNP: rs768884003
rs768884003
ACADM
A 0.700 GeneticVariation CLINVAR Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation. 27856190

2016
dbSNP: rs773677327
rs773677327
ACADM
G 0.700 GeneticVariation CLINVAR [An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency]. 27751224

2016
dbSNP: rs773677327
rs773677327
ACADM
G 0.700 CausalMutation CLINVAR [An analysis of clinical characteristics and gene mutation in two patients with medium- and short-chain acyl-CoA dehydrogenase deficiency]. 27751224

2016
dbSNP: rs780504551
rs780504551
ACADM
T 0.700 GeneticVariation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016
dbSNP: rs780504551
rs780504551
ACADM
T 0.700 CausalMutation CLINVAR Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation. 27856190

2016
dbSNP: rs780504551
rs780504551
ACADM
T 0.700 CausalMutation CLINVAR Significance of ACADM mutations identified through newborn screening of MCAD deficiency in Japan. 26947917

2016
dbSNP: rs1057516983
rs1057516983
ACADM
A 0.700 CausalMutation CLINVAR Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. 25940036

2015
dbSNP: rs370523609
rs370523609
ACADM ; DLSTP1
A 0.700 GeneticVariation CLINVAR Medium-chain acyl-CoA dehydrogenase deficiency associated with a novel splice mutation in the ACADM gene missed by newborn screening. 26223887

2015
dbSNP: rs786204642
rs786204642
ACADM
A 0.700 CausalMutation CLINVAR First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China. 25503862

2015
dbSNP: rs875989857
rs875989857
ACADM
A 0.700 GeneticVariation CLINVAR Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening. 25940036

2015
dbSNP: rs1348176225
rs1348176225
ACADM
G 0.700 GeneticVariation CLINVAR Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants. 24966162

2014
dbSNP: rs148207467
rs148207467
ACADM
T 0.700 GeneticVariation CLINVAR Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal. 23829193

2014