ACADM (acyl-CoA dehydrogenase medium chain) - Rat Genome Database

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Gene: ACADM (acyl-CoA dehydrogenase medium chain) Homo sapiens
Analyze
Symbol: ACADM
Name: acyl-CoA dehydrogenase medium chain
RGD ID: 735259
HGNC Page HGNC:89
Description: Enables identical protein binding activity and medium-chain fatty acyl-CoA dehydrogenase activity. Involved in carnitine metabolic process and fatty acid catabolic process. Located in axon; mitochondrial matrix; and mitochondrial membrane. Implicated in medium chain acyl-CoA dehydrogenase deficiency.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACAD1; acetyl-coenzyme a dehydrogenase, medium chain; acyl-CoA dehydrogenase C-4 to C-12 straight chain; acyl-CoA dehydrogenase, C-4 to C-12 straight chain; acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain; FLJ18227; FLJ93013; FLJ99884; MCAD; MCADH; medium-chain acyl-CoA dehydrogenase; medium-chain specific acyl-CoA dehydrogenase, mitochondrial; testicular tissue protein Li 7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38175,724,709 - 75,763,679 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl175,724,431 - 75,787,575 (+)EnsemblGRCh38hg38GRCh38
GRCh37176,190,394 - 76,229,364 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36175,962,870 - 76,001,771 (+)NCBINCBI36Build 36hg18NCBI36
Build 34175,902,302 - 75,941,204NCBI
Celera174,429,931 - 74,469,272 (+)NCBICelera
Cytogenetic Map1p31.1NCBI
HuRef174,319,974 - 74,359,196 (+)NCBIHuRef
CHM1_1176,305,398 - 76,344,690 (+)NCBICHM1_1
T2T-CHM13v2.0175,561,369 - 75,600,339 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-dexrazoxane  (ISO)
(+)-schisandrin B  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-[(2,3,4-trimethoxyphenyl)methyl]piperazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrabromodibenzodioxine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
2-amino-14,16-dimethyloctadecan-3-ol  (EXP)
2-hydroxypropanoic acid  (EXP)
2-methylcholine  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
5-methyl-4-oxido-2-pyrazin-4-iumcarboxylic acid  (EXP)
8'-apo-beta,psi-caroten-8'-al  (EXP)
acetylsalicylic acid  (EXP)
aflatoxin B1  (EXP)
aflatoxin M1  (EXP)
AICA ribonucleotide  (EXP,ISO)
all-trans-retinoic acid  (EXP)
allopurinol  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
atrazine  (ISO)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP,ISO)
berberine  (ISO)
beta-hexachlorocyclohexane  (EXP,ISO)
bexarotene  (ISO)
bezafibrate  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
cannabidiol  (ISO)
carbon nanotube  (ISO)
chloroform  (ISO)
cholesterol  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
ciglitazone  (EXP)
cisplatin  (EXP,ISO)
clenbuterol  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
Clofop  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
DDE  (EXP)
dexamethasone  (ISO)
Di-n-hexyl phthalate  (EXP)
dibutyl phthalate  (ISO)
dichlorine  (ISO)
dichloroacetic acid  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
dioscin  (ISO)
dioxygen  (ISO)
dorsomorphin  (ISO)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
erythromycin estolate  (ISO)
ethanol  (ISO)
etoposide  (EXP)
farnesol  (EXP)
fenofibrate  (EXP,ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fructose  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
GW 4064  (EXP)
GW 501516  (EXP)
GW 7647  (EXP,ISO)
hexadecanoic acid  (ISO)
homocysteine  (ISO)
indometacin  (ISO)
inulin  (ISO)
isoprenaline  (ISO)
isotretinoin  (EXP)
ivermectin  (EXP)
ketoconazole  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
linoleic acid  (ISO)
lipopolysaccharide  (ISO)
lithium chloride  (ISO)
melatonin  (ISO)
meldonium  (ISO)
methotrexate  (EXP)
microcystin-LR  (ISO)
miquelianin  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
Monobutylphthalate  (ISO)
monosodium L-glutamate  (ISO)
Muraglitazar  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nickel dichloride  (EXP)
NMN zwitterion  (ISO)
oleic acid  (EXP,ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
parathion  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phenylephrine  (ISO)
PhIP  (ISO)
phlorizin  (ISO)
picoxystrobin  (EXP)
pirinixic acid  (EXP,ISO)
potassium chromate  (EXP)
potassium dichromate  (EXP)
pterostilbene  (EXP)
puerarin  (ISO)
quinidine  (ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP,ISO)
rimonabant  (ISO)
SB 431542  (EXP)
sirolimus  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
sucrose  (ISO)
sulforaphane  (ISO)
tamoxifen  (ISO)
tectoridin  (ISO)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
Theaflavin 3,3'-digallate  (ISO)
theophylline  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tributylstannane  (ISO)
Tributyltin oxide  (ISO)
trichloroethene  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
zoledronic acid  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
axon  (IDA)
cytoplasm  (IBA,IEA)
mitochondrial matrix  (IDA,IEA,TAS)
mitochondrial membrane  (IDA)
mitochondrion  (IBA,IDA,IEA,TAS)
nucleus  (HDA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal circulating lactate dehydrogenase concentration  (IAGP)
Abnormal circulating lipid concentration  (IAGP)
Arrhythmia  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Cachexia  (IAGP)
Cardiomegaly  (IAGP)
Cerebral edema  (IAGP)
Coma  (IAGP)
Decreased circulating carnitine concentration  (IAGP)
Decreased liver function  (IAGP)
Decreased plasma total carnitine  (IAGP)
Delayed speech and language development  (IAGP)
Diarrhea  (IAGP)
Dicarboxylic aciduria  (IAGP)
Distal arthrogryposis  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elevated urinary 3-hydroxybutyric acid  (IAGP)
Elevated urinary 7-hydroxyoctanoic acid level  (IAGP)
Epileptic spasm  (IAGP)
Exercise-induced myalgia  (IAGP)
Exertional dyspnea  (IAGP)
Fatigable weakness  (IAGP)
Fatigable weakness of neck muscles  (IAGP)
Fatigue  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hepatic steatosis  (IAGP)
Hepatomegaly  (IAGP)
Hyperammonemia  (IAGP)
Hyperglycinuria  (IAGP)
Hypoglycemia  (IAGP)
Hypotonia  (IAGP)
Ketosis  (IAGP)
Lethargy  (IAGP)
Loss of consciousness  (IAGP)
Macrocephaly  (IAGP)
Medium chain dicarboxylic aciduria  (IAGP)
Metabolic acidosis  (IAGP)
Muscle spasm  (IAGP)
Myopathy  (IAGP)
Proximal muscle weakness  (IAGP)
Reduced tendon reflexes  (IAGP)
Reduced tissue medium-chain acyl-CoA dehydrogenase activity  (IAGP)
Seizure  (IAGP)
Skeletal muscle atrophy  (IAGP)
Vomiting  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Acyl-CoA dehydrogenases. A mechanistic overview. Ghisla S and Thorpe C, Eur J Biochem. 2004 Feb;271(3):494-508.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Purification and characterization of short-chain, medium-chain, and long-chain acyl-CoA dehydrogenases from rat liver mitochondria. Isolation of the holo- and apoenzymes and conversion of the apoenzyme to the holoenzyme. Ikeda Y, etal., J Biol Chem. 1985 Jan 25;260(2):1311-25.
4. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
5. Selenium significantly inhibits adipocyte hypertrophy and abdominal fat accumulation in OLETF rats via induction of fatty acid beta-oxidation. Kim JE, etal., Biol Trace Elem Res. 2012 Dec;150(1-3):360-70. doi: 10.1007/s12011-012-9519-1. Epub 2012 Oct 18.
6. A skeletal growth defect in the puma (Felis concolor). McMullin PF Vet Rec 1978 Oct 14;103(16):356-8.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
10. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
11. RefSeq and LocusLink: NCBI gene-centered resources Pruitt KD and Maglott DR, Nucleic Acids Res. 2001 Jan 1;29(1):137-40.
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1363805   PMID:1671131   PMID:1679031   PMID:1684086   PMID:1729890   PMID:1731887   PMID:1902818   PMID:1970566   PMID:2251268   PMID:2393404   PMID:2394825   PMID:3035565  
PMID:3462713   PMID:3597357   PMID:3786030   PMID:6857268   PMID:7603790   PMID:7608198   PMID:7929823   PMID:8198141   PMID:8823176   PMID:9158144   PMID:9484241   PMID:9487154  
PMID:9882619   PMID:10767181   PMID:11256614   PMID:11263545   PMID:11349232   PMID:11409868   PMID:11486912   PMID:11517203   PMID:12477932   PMID:12522104   PMID:12562916   PMID:12914524  
PMID:14692513   PMID:14970748   PMID:15159392   PMID:15171999   PMID:15489334   PMID:15832312   PMID:15840729   PMID:15896661   PMID:15902558   PMID:16020546   PMID:16128823   PMID:16236267  
PMID:16291504   PMID:16344560   PMID:16617240   PMID:16917729   PMID:16972171   PMID:17186412   PMID:17539907   PMID:18029348   PMID:18188679   PMID:18241067   PMID:18660489   PMID:18927092  
PMID:19064330   PMID:19224950   PMID:19551636   PMID:19615732   PMID:19649258   PMID:19913121   PMID:20037589   PMID:20301597   PMID:20434380   PMID:20567907   PMID:20628086   PMID:20877624  
PMID:21083904   PMID:21145461   PMID:21237683   PMID:21239873   PMID:21630459   PMID:21873635   PMID:21886157   PMID:21968293   PMID:22630369   PMID:22683754   PMID:22863883   PMID:23028790  
PMID:23141465   PMID:23376485   PMID:23752268   PMID:23810226   PMID:23829193   PMID:24718418   PMID:24816252   PMID:24966162   PMID:25416781   PMID:25921289   PMID:26058080   PMID:26223887  
PMID:26344197   PMID:26389662   PMID:26496610   PMID:26871637   PMID:26947917   PMID:27148938   PMID:27308838   PMID:27477829   PMID:27856190   PMID:27871288   PMID:27976856   PMID:28186131  
PMID:29568061   PMID:29845934   PMID:29961565   PMID:30021884   PMID:30097533   PMID:30442662   PMID:30462309   PMID:30463901   PMID:30669930   PMID:30833792   PMID:30940648   PMID:31033143  
PMID:31056398   PMID:31081062   PMID:31478661   PMID:31536960   PMID:31586073   PMID:31617661   PMID:32353859   PMID:32628020   PMID:32807901   PMID:32867711   PMID:32877691   PMID:32963011  
PMID:33060197   PMID:33239621   PMID:33580884   PMID:33975883   PMID:34039636   PMID:34079125   PMID:34133714   PMID:34316702   PMID:34704412   PMID:35241646   PMID:35253629   PMID:35256949  
PMID:35271311   PMID:35831314   PMID:35944360   PMID:36114006   PMID:36215168   PMID:36225252   PMID:36840705   PMID:37257730   PMID:37368378   PMID:37827155   PMID:37950149  


Genomics

Comparative Map Data
ACADM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38175,724,709 - 75,763,679 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl175,724,431 - 75,787,575 (+)EnsemblGRCh38hg38GRCh38
GRCh37176,190,394 - 76,229,364 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36175,962,870 - 76,001,771 (+)NCBINCBI36Build 36hg18NCBI36
Build 34175,902,302 - 75,941,204NCBI
Celera174,429,931 - 74,469,272 (+)NCBICelera
Cytogenetic Map1p31.1NCBI
HuRef174,319,974 - 74,359,196 (+)NCBIHuRef
CHM1_1176,305,398 - 76,344,690 (+)NCBICHM1_1
T2T-CHM13v2.0175,561,369 - 75,600,339 (+)NCBIT2T-CHM13v2.0
Acadm
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm393153,627,990 - 153,650,280 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl3153,627,994 - 153,650,269 (-)EnsemblGRCm39 Ensembl
GRCm383153,922,353 - 153,944,643 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl3153,922,357 - 153,944,632 (-)EnsemblGRCm38mm10GRCm38
MGSCv373153,585,323 - 153,607,396 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv363153,859,745 - 153,881,818 (-)NCBIMGSCv36mm8
Celera3160,386,018 - 160,408,092 (-)NCBICelera
Cytogenetic Map3H3NCBI
cM Map378.77NCBI
Acadm
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82245,518,693 - 245,542,864 (-)NCBIGRCr8
mRatBN7.22242,858,865 - 242,883,036 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2242,858,865 - 242,883,147 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2250,681,651 - 250,705,889 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02248,575,474 - 248,599,714 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02243,474,041 - 243,498,277 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02260,124,418 - 260,148,589 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2260,124,418 - 260,148,589 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02278,788,485 - 278,812,656 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42251,866,645 - 251,890,729 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12251,881,251 - 251,905,336 (-)NCBI
Celera2234,791,302 - 234,815,446 (-)NCBICelera
RH 3.4 Map21631.1RGD
Cytogenetic Map2q45NCBI
Acadm
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542317,172,779 - 17,199,090 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542317,173,648 - 17,199,189 (-)NCBIChiLan1.0ChiLan1.0
ACADM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21151,129,587 - 151,168,926 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11150,290,108 - 150,329,365 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0174,939,477 - 74,978,815 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1176,911,763 - 76,950,840 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl176,911,763 - 76,950,840 (+)Ensemblpanpan1.1panPan2
ACADM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1670,852,223 - 70,881,979 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl670,853,061 - 70,878,668 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha673,516,991 - 73,547,426 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0671,444,858 - 71,475,297 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl671,444,855 - 71,475,372 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1670,941,180 - 70,971,613 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0670,886,684 - 70,917,117 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0671,380,006 - 71,410,441 (-)NCBIUU_Cfam_GSD_1.0
Acadm
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505887,250,876 - 87,286,693 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365712,761,254 - 2,797,045 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACADM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6137,541,381 - 137,595,108 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16137,541,481 - 137,575,544 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26127,513,877 - 127,547,942 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ACADM
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12057,428,863 - 57,468,422 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2057,428,472 - 57,468,359 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603360,040,155 - 60,081,642 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Acadm
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474221,188,062 - 21,215,436 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ACADM
732 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000016.6(ACADM):c.1238G>A (p.Arg413His) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000544203]|not provided [RCV000759412]|not specified [RCV001844191] Chr1:75762735 [GRCh38]
Chr1:76228420 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.989_1010del (p.Val330fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000548185] Chr1:75761165..75761186 [GRCh38]
Chr1:76226850..76226871 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) single nucleotide variant ACADM-related condition [RCV003430631]|Abnormal circulating lipid concentration [RCV002227014]|Epileptic spasm [RCV001526621]|Inborn genetic diseases [RCV002512722]|Medium chain dicarboxylic aciduria [RCV002274875]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000003769]|See cases [RCV002251863]|not provided [RCV000077895] Chr1:75761161 [GRCh38]
Chr1:76226846 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.999_1011dup (p.Gln338Ter) duplication ACADM-related condition [RCV003914801]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000003770]|not provided [RCV000478348] Chr1:75761173..75761174 [GRCh38]
Chr1:76226858..76226859 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) single nucleotide variant ACADM-related condition [RCV003415641]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000003771]|not provided [RCV000185665] Chr1:75749509 [GRCh38]
Chr1:76215194 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.1124T>C (p.Ile375Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000003772] Chr1:75761300 [GRCh38]
Chr1:76226985 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.730T>C (p.Cys244Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000003773] Chr1:75749440 [GRCh38]
Chr1:76215125 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.447G>A (p.Met149Ile) single nucleotide variant ACADM-related condition [RCV003398435]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000003774]|not provided [RCV000723823] Chr1:75734850 [GRCh38]
Chr1:76200535 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.1102_1105del (p.Ala369fs) deletion ACADM-related condition [RCV003924798]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000003775]|not provided [RCV000077877] Chr1:75761276..75761279 [GRCh38]
Chr1:76226961..76226964 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.343_348del (p.Gly115_Cys116del) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000003776] Chr1:75733583..75733588 [GRCh38]
Chr1:76199268..76199273 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.583G>A (p.Gly195Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000003777]|not provided [RCV000077891] Chr1:75740094 [GRCh38]
Chr1:76205779 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000016.6(ACADM):c.577A>G (p.Thr193Ala) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000003778] Chr1:75740088 [GRCh38]
Chr1:76205773 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.842G>C (p.Arg281Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000003779] Chr1:75749552 [GRCh38]
Chr1:76215237 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) single nucleotide variant Inborn genetic diseases [RCV002512723]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000003780]|not provided [RCV000185668] Chr1:75732724 [GRCh38]
Chr1:76198409 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.734C>T (p.Ser245Leu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000003781]|not provided [RCV000077894] Chr1:75749444 [GRCh38]
Chr1:76215129 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.362C>T (p.Thr121Ile) single nucleotide variant ACADM-related condition [RCV003924799]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000003782]|not provided [RCV000185674] Chr1:75733603 [GRCh38]
Chr1:76199288 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.1034A>T (p.Asp345Val) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000543549] Chr1:75761210 [GRCh38]
Chr1:76226895 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.425del (p.Lys142fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000530799] Chr1:75734825 [GRCh38]
Chr1:76200510 [GRCh37]
Chr1:1p31.1		 pathogenic
ACADM, 351A-C single nucleotide variant Mcad deficiency, modifier of [RCV000003783] Chr1:1p31 risk factor
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 copy number gain See cases [RCV000051822] Chr1:52595352..76767765 [GRCh38]
Chr1:53061024..77233450 [GRCh37]
Chr1:52833612..77006038 [NCBI36]
Chr1:1p32.3-31.1		 pathogenic
GRCh38/hg38 1p31.1-13.3(chr1:72661709-107456880)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051825]|See cases [RCV000051825] Chr1:72661709..107456880 [GRCh38]
Chr1:73127392..107999502 [GRCh37]
Chr1:72899980..107801025 [NCBI36]
Chr1:1p31.1-13.3		 pathogenic
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000173613]|not provided [RCV000724339] Chr1:75750529 [GRCh38]
Chr1:76216214 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1 copy number loss See cases [RCV000053842] Chr1:59632500..76730877 [GRCh38]
Chr1:60098172..77196562 [GRCh37]
Chr1:59870760..76969150 [NCBI36]
Chr1:1p32.1-31.1		 pathogenic
NM_000016.5(ACADM):c.1116T>G (p.Ala372=) single nucleotide variant Malignant melanoma [RCV000060244] Chr1:75761292 [GRCh38]
Chr1:76226977 [GRCh37]
Chr1:75999565 [NCBI36]
Chr1:1p31.1		 not provided
NM_000016.6(ACADM):c.1091T>C (p.Ile364Thr) single nucleotide variant Inborn genetic diseases [RCV002515750]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000265170]|not provided [RCV000077876] Chr1:75761267 [GRCh38]
Chr1:76226952 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.1161A>G (p.Val387=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000327270]|not provided [RCV001705719]|not specified [RCV000077878] Chr1:75761337 [GRCh38]
Chr1:76227022 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_000016.6(ACADM):c.118G>C (p.Glu40Gln) single nucleotide variant not provided [RCV000077879] Chr1:75728488 [GRCh38]
Chr1:76194173 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.119-20T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001001381]|not specified [RCV000077880] Chr1:75732624 [GRCh38]
Chr1:76198309 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) single nucleotide variant ACADM-related condition [RCV003415841]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000176959]|See cases [RCV002251961]|not provided [RCV000077881]|not specified [RCV003226190] Chr1:75732652 [GRCh38]
Chr1:76198337 [GRCh37]
Chr1:1p31.1		 pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000016.6(ACADM):c.157C>T (p.Arg53Cys) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000176961]|not provided [RCV000077882] Chr1:75732682 [GRCh38]
Chr1:76198367 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.216+10T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000313132]|not specified [RCV000077883] Chr1:75732751 [GRCh38]
Chr1:76198436 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_000016.6(ACADM):c.216+2T>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001389083]|not provided [RCV000176960] Chr1:75732743 [GRCh38]
Chr1:76198428 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.233T>C (p.Ile78Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000178019]|not provided [RCV000077885] Chr1:75732869 [GRCh38]
Chr1:76198554 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.253G>A (p.Gly85Ser) single nucleotide variant not provided [RCV000398109] Chr1:75732889 [GRCh38]
Chr1:76198574 [GRCh37]
Chr1:1p31.1		 likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.351A>C (p.Thr117=) single nucleotide variant MCAD deficiency, modifier of [RCV000003783]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211524]|not specified [RCV000077887] Chr1:75733592 [GRCh38]
Chr1:76199277 [GRCh37]
Chr1:1p31.1		 risk factor|benign|likely benign|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.388-12_388-10del deletion not provided [RCV000077888]|not specified [RCV003387754] Chr1:75734778..75734780 [GRCh38]
Chr1:76200463..76200465 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.468+7A>T single nucleotide variant not provided [RCV000077889] Chr1:75734878 [GRCh38]
Chr1:76200563 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.489T>G (p.Pro163=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211488]|not provided [RCV000756950]|not specified [RCV000077890] Chr1:75740000 [GRCh38]
Chr1:76205685 [GRCh37]
Chr1:1p31.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.616C>T (p.Arg206Cys) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000180087]|not provided [RCV000077892]|not specified [RCV000505848] Chr1:75745822 [GRCh38]
Chr1:76211507 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.617G>A (p.Arg206His) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000180088]|not provided [RCV000790655] Chr1:75745823 [GRCh38]
Chr1:76211508 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.900C>T (p.Thr300=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001083134]|not provided [RCV000586434]|not specified [RCV000123471] Chr1:75750501 [GRCh38]
Chr1:76216186 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.-34T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000295070]|not specified [RCV000123474] Chr1:75724754 [GRCh38]
Chr1:76190439 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_000016.6(ACADM):c.131A>G (p.Gln44Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000812228]|not provided [RCV000254953] Chr1:75732656 [GRCh38]
Chr1:76198341 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.287-1G>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609148]|not provided [RCV000178700] Chr1:75733527 [GRCh38]
Chr1:76199212 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.1007G>A (p.Ser336Asn) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003502519]|not provided [RCV000173950] Chr1:75761183 [GRCh38]
Chr1:76226868 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1 copy number loss See cases [RCV000136913] Chr1:58819605..86098611 [GRCh38]
Chr1:59285277..86564294 [GRCh37]
Chr1:59057865..86336882 [NCBI36]
Chr1:1p32.1-22.3		 pathogenic
GRCh38/hg38 1p31.3-31.1(chr1:66865125-77123381)x1 copy number loss See cases [RCV000143129] Chr1:66865125..77123381 [GRCh38]
Chr1:67330808..77589066 [GRCh37]
Chr1:67103396..77361654 [NCBI36]
Chr1:1p31.3-31.1		 pathogenic
NM_000016.6(ACADM):c.387+1del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000169015]|not provided [RCV000383616] Chr1:75733625 [GRCh38]
Chr1:76199310 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.850-2A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000169062] Chr1:75750449 [GRCh38]
Chr1:76216134 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211435]|not specified [RCV003226252] Chr1:75740037 [GRCh38]
Chr1:76205722 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.50G>A (p.Arg17His) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211437] Chr1:75728420 [GRCh38]
Chr1:76194105 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.1189T>A (p.Tyr397Asn) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211439] Chr1:75761365 [GRCh38]
Chr1:76227050 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.31-37C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211441]|not provided [RCV001797067] Chr1:75728364 [GRCh38]
Chr1:76194049 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_000016.6(ACADM):c.599+1G>A single nucleotide variant ACADM-related condition [RCV003917863]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211443] Chr1:75740111 [GRCh38]
Chr1:76205796 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.468+71T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211444] Chr1:75734942 [GRCh38]
Chr1:76200627 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.296G>T (p.Gly99Val) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211446]|not provided [RCV000353184] Chr1:75733537 [GRCh38]
Chr1:76199222 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.238A>G (p.Arg80Gly) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211447] Chr1:75732874 [GRCh38]
Chr1:76198559 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.118+18T>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211449] Chr1:75728506 [GRCh38]
Chr1:76194191 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_000016.6(ACADM):c.609A>C (p.Leu203Phe) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211450] Chr1:75745815 [GRCh38]
Chr1:76211500 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.250C>T (p.Leu84Phe) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211459]|not provided [RCV000432899] Chr1:75732886 [GRCh38]
Chr1:76198571 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.*77C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211461] Chr1:75762840 [GRCh38]
Chr1:76228525 [GRCh37]
Chr1:1p31.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.580A>G (p.Asn194Asp) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211463]|not provided [RCV000755768] Chr1:75740091 [GRCh38]
Chr1:76205776 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.388-3T>G single nucleotide variant ACADM-related condition [RCV003907787]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211465]|not provided [RCV001800539] Chr1:75734788 [GRCh38]
Chr1:76200473 [GRCh37]
Chr1:1p31.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211470] Chr1:75749438 [GRCh38]
Chr1:76215123 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.31-73T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211476]|not provided [RCV001682923] Chr1:75728328 [GRCh38]
Chr1:76194013 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.508G>T (p.Ala170Ser) single nucleotide variant Inborn genetic diseases [RCV003352803]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211480]|See cases [RCV002252057] Chr1:75740019 [GRCh38]
Chr1:76205704 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.984del (p.Met328fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211482]|not provided [RCV001567614] Chr1:75761160 [GRCh38]
Chr1:76226845 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.661G>A (p.Gly221Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211484]|not provided [RCV000498965] Chr1:75745867 [GRCh38]
Chr1:76211552 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.158G>A (p.Arg53His) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211492]|not provided [RCV001753639] Chr1:75732683 [GRCh38]
Chr1:76198368 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.1184A>C (p.Lys395Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211495] Chr1:75761360 [GRCh38]
Chr1:76227045 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala) single nucleotide variant ACADM-related condition [RCV003407737]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211496]|not provided [RCV000439614] Chr1:75740014 [GRCh38]
Chr1:76205699 [GRCh37]
Chr1:1p31.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.757G>A (p.Glu253Lys) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211500] Chr1:75749467 [GRCh38]
Chr1:76215152 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.1012C>T (p.Gln338Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211507] Chr1:75761188 [GRCh38]
Chr1:76226873 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.469-9A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211511]|not provided [RCV001706209]|not specified [RCV000251406] Chr1:75739971 [GRCh38]
Chr1:76205656 [GRCh37]
Chr1:1p31.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.985A>C (p.Lys329Gln) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211523] Chr1:75761161 [GRCh38]
Chr1:76226846 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.447G>T (p.Met149Ile) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211526] Chr1:75734850 [GRCh38]
Chr1:76200535 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.600-18G>A single nucleotide variant Inborn genetic diseases [RCV002517448]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211531]|not provided [RCV000224275] Chr1:75745788 [GRCh38]
Chr1:76211473 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.755T>G (p.Phe252Cys) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211533] Chr1:75749465 [GRCh38]
Chr1:76215150 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.118+60del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211537]|not provided [RCV001610527] Chr1:75728545 [GRCh38]
Chr1:76194230 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.678A>G (p.Ala226=) single nucleotide variant ACADM-related condition [RCV003907788]|Inborn genetic diseases [RCV002363054]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211540]|not provided [RCV000758717]|not specified [RCV000443722] Chr1:75745884 [GRCh38]
Chr1:76211569 [GRCh37]
Chr1:1p31.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.-17C>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211541]|not provided [RCV000498567] Chr1:75724771 [GRCh38]
Chr1:76190456 [GRCh37]
Chr1:1p31.1		 pathogenic|uncertain significance
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211542]|not provided [RCV000421774] Chr1:75750482 [GRCh38]
Chr1:76216167 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.*39G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211552]|not specified [RCV000253266] Chr1:75762802 [GRCh38]
Chr1:76228487 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211557]|not specified [RCV002282048] Chr1:75761291 [GRCh38]
Chr1:76226976 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000016.5(ACADM):c.999_1011dupTAGAATGAGTTAC (p.Gln338Terfs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000169221] Chr1:75761175..75761187 [GRCh38]
Chr1:76226860..76226872 [GRCh37]		 likely pathogenic
NM_000016.6(ACADM):c.244dup (p.Trp82fs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000169305]|not provided [RCV000185677] Chr1:75732879..75732880 [GRCh38]
Chr1:76198564..76198565 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.1045C>T (p.Arg349Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000169403]|not provided [RCV000441828] Chr1:75761221 [GRCh38]
Chr1:76226906 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.977T>C (p.Met326Thr) single nucleotide variant Medium chain dicarboxylic aciduria [RCV002274924]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000169406] Chr1:75761153 [GRCh38]
Chr1:76226838 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.449_452del (p.Thr150fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000169427]|not provided [RCV000723370] Chr1:75734849..75734852 [GRCh38]
Chr1:76200534..76200537 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000667388]|not provided [RCV000178699] Chr1:75733561 [GRCh38]
Chr1:76199246 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000016.6(ACADM):c.443G>A (p.Arg148Lys) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211501]|not provided [RCV000179231]|not specified [RCV001800517] Chr1:75734846 [GRCh38]
Chr1:76200531 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211498]|not provided [RCV000421950] Chr1:75740069 [GRCh38]
Chr1:76205754 [GRCh37]
Chr1:1p31.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.469G>A (p.Ala157Thr) single nucleotide variant not provided [RCV000179695] Chr1:75739980 [GRCh38]
Chr1:76205665 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.709-13A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000669720]|not provided [RCV000180448] Chr1:75749406 [GRCh38]
Chr1:76215091 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.86G>T (p.Arg29Leu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001053658]|not specified [RCV003317138] Chr1:75728456 [GRCh38]
Chr1:76194141 [GRCh37]
Chr1:1p31.1		 pathogenic|likely benign|uncertain significance
NM_000016.6(ACADM):c.1012C>G (p.Gln338Glu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000686895] Chr1:75761188 [GRCh38]
Chr1:76226873 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1052C>T (p.Thr351Ile) single nucleotide variant ACADM-related condition [RCV003422081]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001000199]|not provided [RCV000185667] Chr1:75761228 [GRCh38]
Chr1:76226913 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000556896]|See cases [RCV002252028]|not provided [RCV000185669]|not specified [RCV001804919] Chr1:75762744 [GRCh38]
Chr1:76228429 [GRCh37]
Chr1:1p31.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.5(ACADM):c.200A>G (p.Tyr67Cys) single nucleotide variant not specified [RCV000185670] Chr1:75732725 [GRCh38]
Chr1:76198410 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.57T>C (p.His19=) single nucleotide variant Inborn genetic diseases [RCV002356409]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000403153]|not provided [RCV003409460] Chr1:75728427 [GRCh38]
Chr1:76194112 [GRCh37]
Chr1:1p31.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn) single nucleotide variant ACADM-related condition [RCV003398918]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211555]|not provided [RCV000185662]|not specified [RCV002222435] Chr1:75745889 [GRCh38]
Chr1:76211574 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr) single nucleotide variant Hydrocephalus, nonsyndromic, autosomal recessive 2 [RCV000505849]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000984236]|not provided [RCV000211549] Chr1:75745904 [GRCh38]
Chr1:76211589 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly) single nucleotide variant ACADM-related condition [RCV003907647]|Epileptic spasm [RCV001526622]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211538]|not provided [RCV000185664] Chr1:75749507 [GRCh38]
Chr1:76215192 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.5(ACADM):c.289G>C (p.Gly97Arg) single nucleotide variant not provided [RCV000185671] Chr1:75733530 [GRCh38]
Chr1:76199215 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.5(ACADM):c.317G>A (p.Cys106Tyr) single nucleotide variant not provided [RCV000185672] Chr1:75733558 [GRCh38]
Chr1:76199243 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.5(ACADM):c.329A>G (p.Glu110Gly) single nucleotide variant not provided [RCV000185673] Chr1:75733570 [GRCh38]
Chr1:76199255 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.426del (p.Lys143fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211535]|not provided [RCV000185675] Chr1:75734829 [GRCh38]
Chr1:76200514 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.882_883del (p.Arg294fs) microsatellite Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000686896]|not provided [RCV000185676] Chr1:75750481..75750482 [GRCh38]
Chr1:76216166..76216167 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.5(ACADM):c.926T>G (p.Phe309Cys) single nucleotide variant not provided [RCV000185678] Chr1:75750527 [GRCh38]
Chr1:76216212 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.-50A>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000382500] Chr1:75724738 [GRCh38]
Chr1:76190423 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.946-2A>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000665621]|not provided [RCV000255491] Chr1:75761120 [GRCh38]
Chr1:76226805 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.469-1G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211431] Chr1:75739979 [GRCh38]
Chr1:76205664 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.1087G>A (p.Asp363Asn) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211452] Chr1:75761263 [GRCh38]
Chr1:76226948 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211454] Chr1:75733588 [GRCh38]
Chr1:76199273 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.302G>A (p.Gly101Glu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211456] Chr1:75733543 [GRCh38]
Chr1:76199228 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.118+64del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211458] Chr1:75728550 [GRCh38]
Chr1:76194235 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.907G>A (p.Ala303Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211468] Chr1:75750508 [GRCh38]
Chr1:76216193 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.464T>C (p.Met155Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211471]|not provided [RCV001824301] Chr1:75734867 [GRCh38]
Chr1:76200552 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.742A>G (p.Arg248Gly) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211474] Chr1:75749452 [GRCh38]
Chr1:76215137 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211478]|not provided [RCV000758716] Chr1:75733587 [GRCh38]
Chr1:76199272 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.1057T>G (p.Tyr353Asp) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211487] Chr1:75761233 [GRCh38]
Chr1:76226918 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.295G>A (p.Gly99Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211489] Chr1:75733536 [GRCh38]
Chr1:76199221 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1189dup (p.Tyr397fs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211490] Chr1:75761364..75761365 [GRCh38]
Chr1:76227049..76227050 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.602A>G (p.Tyr201Cys) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211497] Chr1:75745808 [GRCh38]
Chr1:76211493 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.-6_6delinsACCCCGAAGG (p.Met1fs) indel Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211504] Chr1:75724782..75724793 [GRCh38]
Chr1:76190467..76190478 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.322_325del (p.Ile108fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211506]|not provided [RCV000723369] Chr1:75733560..75733563 [GRCh38]
Chr1:76199245..76199248 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.1221_1222del (p.Arg408fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211509]|not provided [RCV003114373] Chr1:75762717..75762718 [GRCh38]
Chr1:76228402..76228403 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del) microsatellite Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211510]|not provided [RCV000313722] Chr1:75734827..75734829 [GRCh38]
Chr1:76200512..76200514 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.118+114A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211513] Chr1:75728602 [GRCh38]
Chr1:76194287 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.468+62C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211518] Chr1:75734933 [GRCh38]
Chr1:76200618 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.926dup (p.Gly310fs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211520] Chr1:75750524..75750525 [GRCh38]
Chr1:76216209..76216210 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.107_113dup (p.Ser38delinsArgIleTer) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211527] Chr1:75728472..75728473 [GRCh38]
Chr1:76194157..76194158 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.817_829del (p.Ala273fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211529] Chr1:75749525..75749537 [GRCh38]
Chr1:76215210..76215222 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.395C>G (p.Pro132Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211545] Chr1:75734798 [GRCh38]
Chr1:76200483 [GRCh37]
Chr1:1p31.1		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.1012_1013insTAGAATGAGTTAC (p.Gln338delinsLeuGluTer) insertion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211550] Chr1:75761187..75761188 [GRCh38]
Chr1:76226872..76226873 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.599+5G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000211554] Chr1:75740115 [GRCh38]
Chr1:76205800 [GRCh37]
Chr1:1p31.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.708+2T>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000670022] Chr1:75745916 [GRCh38]
Chr1:76211601 [GRCh37]
Chr1:1p31.1		 likely pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_000016.6(ACADM):c.994C>T (p.Leu332=) single nucleotide variant Inborn genetic diseases [RCV002379168]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000306099]|not provided [RCV000727060] Chr1:75761170 [GRCh38]
Chr1:76226855 [GRCh37]
Chr1:1p31.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.849+1G>A single nucleotide variant not provided [RCV000224576] Chr1:75749560 [GRCh38]
Chr1:76215245 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.287-10G>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000337692]|not provided [RCV001706445] Chr1:75733518 [GRCh38]
Chr1:76199203 [GRCh37]
Chr1:1p31.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.*773G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000281243] Chr1:75763536 [GRCh38]
Chr1:76229221 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_000016.6(ACADM):c.387+32C>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001533628]|not provided [RCV001536495]|not specified [RCV000242505] Chr1:75733660 [GRCh38]
Chr1:76199345 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.31-32C>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001286440]|not provided [RCV001711514]|not specified [RCV000243096] Chr1:75728369 [GRCh38]
Chr1:76194054 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.469-22C>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001286441]|not provided [RCV001618357]|not specified [RCV000245643] Chr1:75739958 [GRCh38]
Chr1:76205643 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.477T>G (p.Cys159Trp) single nucleotide variant not specified [RCV000250528] Chr1:75739988 [GRCh38]
Chr1:76205673 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.-29T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000352404] Chr1:75724759 [GRCh38]
Chr1:76190444 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000333494]|not provided [RCV000723521] Chr1:75732659 [GRCh38]
Chr1:76198344 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.-362T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000316956]|not provided [RCV001594933] Chr1:75724426 [GRCh38]
Chr1:76190111 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_000016.6(ACADM):c.-401G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000356437]|not provided [RCV001711893] Chr1:75724387 [GRCh38]
Chr1:76190072 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_000016.6(ACADM):c.*878T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000405507] Chr1:75763641 [GRCh38]
Chr1:76229326 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.5(ACADM):c.-257G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000322244]|not provided [RCV001612933] Chr1:75724531 [GRCh38]
Chr1:76190216 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_000016.6(ACADM):c.*44T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000384263] Chr1:75762807 [GRCh38]
Chr1:76228492 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.-142C>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000291725]|not provided [RCV001530686] Chr1:75724646 [GRCh38]
Chr1:76190331 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_000016.5(ACADM):c.-92A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000344343] Chr1:75724696 [GRCh38]
Chr1:76190381 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.*672T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000387260] Chr1:75763435 [GRCh38]
Chr1:76229120 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_000016.6(ACADM):c.*133T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000387799] Chr1:75762896 [GRCh38]
Chr1:76228581 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.5(ACADM):c.-375C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000259375] Chr1:75724413 [GRCh38]
Chr1:76190098 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.692T>C (p.Ile231Thr) single nucleotide variant not provided [RCV000273882] Chr1:75745898 [GRCh38]
Chr1:76211583 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.330A>G (p.Glu110=) single nucleotide variant not provided [RCV000309088] Chr1:75733571 [GRCh38]
Chr1:76199256 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1019C>T (p.Ala340Val) single nucleotide variant Inborn genetic diseases [RCV002519070]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001833302]|not provided [RCV000378704] Chr1:75761195 [GRCh38]
Chr1:76226880 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.673G>A (p.Glu225Lys) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001855077]|not provided [RCV000280950] Chr1:75745879 [GRCh38]
Chr1:76211564 [GRCh37]
Chr1:1p31.1		 pathogenic|uncertain significance
NM_000016.6(ACADM):c.286G>A (p.Gly96Arg) single nucleotide variant not provided [RCV000389935] Chr1:75732922 [GRCh38]
Chr1:76198607 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.938T>C (p.Leu313Pro) single nucleotide variant not provided [RCV000285147] Chr1:75750539 [GRCh38]
Chr1:76216224 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1022C>T (p.Ala341Val) single nucleotide variant not provided [RCV000286748] Chr1:75761198 [GRCh38]
Chr1:76226883 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.385G>T (p.Gly129Trp) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000701018]|not provided [RCV000354099] Chr1:75733626 [GRCh38]
Chr1:76199311 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.659C>T (p.Thr220Ile) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002518867]|not provided [RCV000359924] Chr1:75745865 [GRCh38]
Chr1:76211550 [GRCh37]
Chr1:1p31.1		 likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.230T>A (p.Leu77Gln) single nucleotide variant not provided [RCV000326367] Chr1:75732866 [GRCh38]
Chr1:76198551 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.388-5G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000665148]|not provided [RCV000498502]|not specified [RCV002298560] Chr1:75734786 [GRCh38]
Chr1:76200471 [GRCh37]
Chr1:1p31.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.125C>T (p.Thr42Ile) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001313550]|not provided [RCV000366127] Chr1:75732650 [GRCh38]
Chr1:76198335 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.5(ACADM):c.-304A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000267780] Chr1:75724484 [GRCh38]
Chr1:76190169 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.423_425del (p.Lys144del) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001242051]|not provided [RCV000297824] Chr1:75734825..75734827 [GRCh38]
Chr1:76200510..76200512 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.287-7dup duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001491594]|not provided [RCV000332350] Chr1:75733520..75733521 [GRCh38]
Chr1:76199205..76199206 [GRCh37]
Chr1:1p31.1		 likely benign|uncertain significance
NM_000016.6(ACADM):c.*63dup duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000268786] Chr1:75762820..75762821 [GRCh38]
Chr1:76228505..76228506 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.388-14A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002519071]|not provided [RCV000334881] Chr1:75734777 [GRCh38]
Chr1:76200462 [GRCh37]
Chr1:1p31.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.945+262G>A single nucleotide variant not provided [RCV001548267] Chr1:75750808 [GRCh38]
Chr1:76216493 [GRCh37]
Chr1:1p31.1		 likely benign
NC_000001.10:g.(?_76190031)_(76229365_?)del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002281749] Chr1:76190031..76229365 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.5(ACADM):c.-169C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000383790] Chr1:75724619 [GRCh38]
Chr1:76190304 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.5(ACADM):c.-403C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000318033] Chr1:75724385 [GRCh38]
Chr1:76190070 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.*317C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000349120] Chr1:75763080 [GRCh38]
Chr1:76228765 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.*284C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000296575] Chr1:75763047 [GRCh38]
Chr1:76228732 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.*825del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000338496] Chr1:75763587 [GRCh38]
Chr1:76229272 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.624T>C (p.Asp208=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000355197] Chr1:75745830 [GRCh38]
Chr1:76211515 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000016.5(ACADM):c.-342G>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000378569] Chr1:75724446 [GRCh38]
Chr1:76190131 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000633659]|not provided [RCV000579124] Chr1:75762754 [GRCh38]
Chr1:76228439 [GRCh37]
Chr1:1p31.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.526G>A (p.Ala176Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001002215]|not provided [RCV000588049] Chr1:75740037 [GRCh38]
Chr1:76205722 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000633657]|not provided [RCV000593338] Chr1:75732889 [GRCh38]
Chr1:76198574 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000016.6(ACADM):c.1046G>T (p.Arg349Leu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001275859]|not provided [RCV000589470] Chr1:75761222 [GRCh38]
Chr1:76226907 [GRCh37]
Chr1:1p31.1		 likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.*177G>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001099247] Chr1:75762940 [GRCh38]
Chr1:76228625 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.*427T>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001099248] Chr1:75763190 [GRCh38]
Chr1:76228875 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.431_434del (p.Lys144fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000409112]|not provided [RCV000498380] Chr1:75734833..75734836 [GRCh38]
Chr1:76200518..76200521 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.959C>A (p.Ser320Ter) single nucleotide variant ACADM-related condition [RCV003401383]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000409156] Chr1:75761135 [GRCh38]
Chr1:76226820 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.224del (p.Val75fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000409619]|not provided [RCV000759413] Chr1:75732860 [GRCh38]
Chr1:76198545 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.1114dup (p.Ala372fs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000410007] Chr1:75761289..75761290 [GRCh38]
Chr1:76226974..76226975 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.957_958del (p.Ser320fs) microsatellite Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000410180] Chr1:75761131..75761132 [GRCh38]
Chr1:76226816..76226817 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.270_271del (p.Ile91fs) microsatellite Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000410396] Chr1:75732899..75732900 [GRCh38]
Chr1:76198584..76198585 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.118+1G>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000410407] Chr1:75728489 [GRCh38]
Chr1:76194174 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.387+1G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000410662]|not provided [RCV000985277] Chr1:75733629 [GRCh38]
Chr1:76199314 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.173_174del (p.Glu58fs) microsatellite Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000410859] Chr1:75732694..75732695 [GRCh38]
Chr1:76198379..76198380 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.709-1G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000410883] Chr1:75749418 [GRCh38]
Chr1:76215103 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.599+2T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000411016] Chr1:75740112 [GRCh38]
Chr1:76205797 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.287-2A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000415233] Chr1:75733526 [GRCh38]
Chr1:76199211 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.927del (p.Phe309fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001045932]|not provided [RCV000728867] Chr1:75750528 [GRCh38]
Chr1:76216213 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.1054T>G (p.Tyr352Asp) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001379148]|not provided [RCV000728881] Chr1:75761230 [GRCh38]
Chr1:76226915 [GRCh37]
Chr1:1p31.1		 likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.387+1G>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000411111] Chr1:75733629 [GRCh38]
Chr1:76199314 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.1045del (p.Arg349fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000411189] Chr1:75761221 [GRCh38]
Chr1:76226906 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.1073del (p.Lys358fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000411393] Chr1:75761247 [GRCh38]
Chr1:76226932 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.1A>G (p.Met1Val) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000411404]|not provided [RCV000767337] Chr1:75724788 [GRCh38]
Chr1:76190473 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|not provided
NM_000016.6(ACADM):c.216+1G>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000411766] Chr1:75732742 [GRCh38]
Chr1:76198427 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.1150G>T (p.Glu384Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000411952] Chr1:75761326 [GRCh38]
Chr1:76227011 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.1195-2A>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000411995] Chr1:75762690 [GRCh38]
Chr1:76228375 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.739A>G (p.Thr247Ala) single nucleotide variant not provided [RCV000412735] Chr1:75749449 [GRCh38]
Chr1:76215134 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.949C>T (p.Gln317Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000412345] Chr1:75761125 [GRCh38]
Chr1:76226810 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.437del (p.Leu146fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000412440] Chr1:75734838 [GRCh38]
Chr1:76200523 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.1159G>C (p.Val387Leu) single nucleotide variant Inborn genetic diseases [RCV003298424]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001833505]|not provided [RCV000413974] Chr1:75761335 [GRCh38]
Chr1:76227020 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.3-31.1(chr1:63252828-77402595)x1 copy number loss See cases [RCV000446378] Chr1:63252828..77402595 [GRCh37]
Chr1:1p31.3-31.1		 pathogenic
NM_000016.6(ACADM):c.261G>A (p.Met87Ile) single nucleotide variant not specified [RCV000423849] Chr1:75732897 [GRCh38]
Chr1:76198582 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.866T>C (p.Val289Ala) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001828399]|not provided [RCV000434661] Chr1:75750467 [GRCh38]
Chr1:76216152 [GRCh37]
Chr1:1p31.1		 pathogenic|uncertain significance
NM_000016.6(ACADM):c.582C>T (p.Asn194=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000877691]|not specified [RCV000428625] Chr1:75740093 [GRCh38]
Chr1:76205778 [GRCh37]
Chr1:1p31.1		 likely benign|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.177A>C (p.Glu59Asp) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000675125]|not provided [RCV000422626] Chr1:75732702 [GRCh38]
Chr1:76198387 [GRCh37]
Chr1:1p31.1		 likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.645T>A (p.Ala215=) single nucleotide variant ACADM-related condition [RCV003902582]|Inborn genetic diseases [RCV002365533]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000908292]|not provided [RCV001721308]|not specified [RCV000425264] Chr1:75745851 [GRCh38]
Chr1:76211536 [GRCh37]
Chr1:1p31.1		 likely benign|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.1194+11A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002058968]|not specified [RCV000428896] Chr1:75761381 [GRCh38]
Chr1:76227066 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_000016.6(ACADM):c.946-9T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002522661]|not specified [RCV000422086] Chr1:75761113 [GRCh38]
Chr1:76226798 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.210T>G (p.Thr70=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000930831]|not provided [RCV001697841] Chr1:75732735 [GRCh38]
Chr1:76198420 [GRCh37]
Chr1:1p31.1		 likely benign|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.218A>G (p.Tyr73Cys) single nucleotide variant not provided [RCV000439469] Chr1:75732854 [GRCh38]
Chr1:76198539 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.355dup (p.Val119fs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001027917]|not provided [RCV000483298] Chr1:75733592..75733593 [GRCh38]
Chr1:76199277..76199278 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.286G>C (p.Gly96Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001275343]|not provided [RCV000482991] Chr1:75732922 [GRCh38]
Chr1:76198607 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_000016.6(ACADM):c.708+1G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001834605]|not provided [RCV000497333] Chr1:75745915 [GRCh38]
Chr1:76211600 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.773C>T (p.Pro258Leu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001275858]|not provided [RCV000498142] Chr1:75749483 [GRCh38]
Chr1:76215168 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1 copy number loss See cases [RCV000510161] Chr1:72044544..92505091 [GRCh37]
Chr1:1p31.1-22.1		 pathogenic
NM_000016.6(ACADM):c.1055A>G (p.Tyr352Cys) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001378636]|not provided [RCV000508385] Chr1:75761231 [GRCh38]
Chr1:76226916 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.235AGA[1] (p.Arg80del) microsatellite Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000814866]|not specified [RCV000508453] Chr1:75732871..75732873 [GRCh38]
Chr1:76198556..76198558 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.599+3A>G single nucleotide variant ACADM-related condition [RCV003409718]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001247647]|not provided [RCV001564547]|not specified [RCV000507590] Chr1:75740113 [GRCh38]
Chr1:76205798 [GRCh37]
Chr1:1p31.1		 likely pathogenic|uncertain significance
GRCh37/hg19 1p31.1(chr1:76050176-76623228)x3 copy number gain See cases [RCV000512001] Chr1:76050176..76623228 [GRCh37]
Chr1:1p31.1		 likely benign
GRCh37/hg19 1p31.3-22.3(chr1:64321264-88153669)x1 copy number loss See cases [RCV000511392] Chr1:64321264..88153669 [GRCh37]
Chr1:1p31.3-22.3		 pathogenic|uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p31.1(chr1:74848936-80324850)x3 copy number gain See cases [RCV000510973] Chr1:74848936..80324850 [GRCh37]
Chr1:1p31.1		 uncertain significance
GRCh37/hg19 1p31.1(chr1:75648797-77770044)x1 copy number loss See cases [RCV000510871] Chr1:75648797..77770044 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NC_000001.10:g.(?_76211471)_(76211619_?)dup duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000633661] Chr1:75745786..75745934 [GRCh38]
Chr1:76211471..76211619 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.61A>C (p.Arg21=) single nucleotide variant not specified [RCV000607354] Chr1:75728431 [GRCh38]
Chr1:76194116 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.600-6T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000931984]|not specified [RCV000614727] Chr1:75745800 [GRCh38]
Chr1:76211485 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.708+8A>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002065411]|not specified [RCV000604114] Chr1:75745922 [GRCh38]
Chr1:76211607 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.30+10A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002062852]|not specified [RCV000605072] Chr1:75724827 [GRCh38]
Chr1:76190512 [GRCh37]
Chr1:1p31.1		 likely benign
GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1 copy number loss See cases [RCV000512152] Chr1:61351024..79583933 [GRCh37]
Chr1:1p31.3-31.1		 pathogenic
NM_000016.6(ACADM):c.1190A>C (p.Tyr397Ser) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000633656] Chr1:75761366 [GRCh38]
Chr1:76227051 [GRCh37]
Chr1:1p31.1		 pathogenic|uncertain significance
NM_000016.6(ACADM):c.47del (p.Ser16fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000633658] Chr1:75728417 [GRCh38]
Chr1:76194102 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.351_352delinsCA (p.Gly118Arg) indel Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000633660] Chr1:75733592..75733593 [GRCh38]
Chr1:76199277..76199278 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.913G>T (p.Glu305Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000588168] Chr1:75750514 [GRCh38]
Chr1:76216199 [GRCh37]
Chr1:1p31.1		 likely pathogenic
GRCh37/hg19 1p31.1(chr1:72578280-77429541)x3 copy number gain not provided [RCV000585144] Chr1:72578280..77429541 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.541_542del (p.Gly180_Asp181insTer) microsatellite not provided [RCV000595383] Chr1:75740050..75740051 [GRCh38]
Chr1:76205735..76205736 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.708+6G>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000671067]|not specified [RCV002282311] Chr1:75745920 [GRCh38]
Chr1:76211605 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000673565] Chr1:75734864 [GRCh38]
Chr1:76200549 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.843A>T (p.Arg281Ser) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000665026] Chr1:75749553 [GRCh38]
Chr1:76215238 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.165del (p.Phe55fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000699638] Chr1:75732688 [GRCh38]
Chr1:76198373 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.510_527del (p.Gly171_Ala176del) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000670261] Chr1:75740018..75740035 [GRCh38]
Chr1:76205703..76205720 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1264T>G (p.Ter422Glu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000670283] Chr1:75762761 [GRCh38]
Chr1:76228446 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1265A>T (p.Ter422Leu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000671393] Chr1:75762762 [GRCh38]
Chr1:76228447 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1073A>T (p.Lys358Met) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000669203] Chr1:75761249 [GRCh38]
Chr1:76226934 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1194+1G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000671452] Chr1:75761371 [GRCh38]
Chr1:76227056 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.3G>C (p.Met1Ile) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000671645]|not provided [RCV002510954] Chr1:75724790 [GRCh38]
Chr1:76190475 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.1184A>G (p.Lys395Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000664886]|not specified [RCV002249394] Chr1:75761360 [GRCh38]
Chr1:76227045 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000673916] Chr1:75740043..75740075 [GRCh38]
Chr1:76205728..76205760 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.469-2A>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000668634] Chr1:75739978 [GRCh38]
Chr1:76205663 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.30+2T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000665983] Chr1:75724819 [GRCh38]
Chr1:76190504 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.850-3_850-2insTAAAAT insertion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000674542] Chr1:75750447..75750448 [GRCh38]
Chr1:76216132..76216133 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.76_78dup (p.Lys26dup) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000666955] Chr1:75728444..75728445 [GRCh38]
Chr1:76194129..76194130 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.473A>G (p.Tyr158Cys) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000664956] Chr1:75739984 [GRCh38]
Chr1:76205669 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.387+2dup duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000669655] Chr1:75733629..75733630 [GRCh38]
Chr1:76199314..76199315 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1249_1251del (p.Asp417del) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000673905] Chr1:75762746..75762748 [GRCh38]
Chr1:76228431..76228433 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000670850]|not specified [RCV003330891] Chr1:75762704 [GRCh38]
Chr1:76228389 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.356T>A (p.Val119Asp) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000670411] Chr1:75733597 [GRCh38]
Chr1:76199282 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.542A>G (p.Asp181Gly) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000673982] Chr1:75740053 [GRCh38]
Chr1:76205738 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.826_828delinsCC (p.Ala276fs) indel Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000671063] Chr1:75749536..75749538 [GRCh38]
Chr1:76215221..76215223 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.539_541del (p.Gly180del) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000671212] Chr1:75740048..75740050 [GRCh38]
Chr1:76205733..76205735 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.286+2T>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000666595] Chr1:75732924 [GRCh38]
Chr1:76198609 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.212G>A (p.Gly71Asp) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000673857] Chr1:75732737 [GRCh38]
Chr1:76198422 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.617G>T (p.Arg206Leu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000672738]|not specified [RCV002222600] Chr1:75745823 [GRCh38]
Chr1:76211508 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.850-8_850-7insTATCTTAAAATACTTAA insertion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000674541] Chr1:75750441..75750442 [GRCh38]
Chr1:76216126..76216127 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1205G>T (p.Gly402Val) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000673021]|not specified [RCV002222601] Chr1:75762702 [GRCh38]
Chr1:76228387 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.946-6T>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000674990] Chr1:75761116 [GRCh38]
Chr1:76226801 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.709-2A>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000667362] Chr1:75749417 [GRCh38]
Chr1:76215102 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.388-19T>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000667810] Chr1:75734772 [GRCh38]
Chr1:76200457 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.1195-1G>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000667837] Chr1:75762691 [GRCh38]
Chr1:76228376 [GRCh37]
Chr1:1p31.1		 likely pathogenic
GRCh37/hg19 1p31.1(chr1:72103442-77186974)x3 copy number gain not provided [RCV000684586] Chr1:72103442..77186974 [GRCh37]
Chr1:1p31.1		 likely pathogenic
GRCh37/hg19 1p31.1(chr1:76088639-76214360)x1 copy number loss not provided [RCV000684589] Chr1:76088639..76214360 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.666C>A (p.Phe222Leu) single nucleotide variant Inborn genetic diseases [RCV002360835]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000707124] Chr1:75745872 [GRCh38]
Chr1:76211557 [GRCh37]
Chr1:1p31.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.794_803delinsTTTAA (p.Gly265_Ala268delinsValTer) indel Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000690544]|not provided [RCV000985278] Chr1:75749504..75749513 [GRCh38]
Chr1:76215189..76215198 [GRCh37]
Chr1:1p31.1		 pathogenic
NC_000001.11:g.(?_75541435)_(76074884_?)del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000708425] Chr1:75541435..76074884 [GRCh38]
Chr1:76007120..76540569 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.950A>T (p.Gln317Leu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000702815] Chr1:75761126 [GRCh38]
Chr1:76226811 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.717C>G (p.Asn239Lys) single nucleotide variant ACADM-related condition [RCV003411606]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000691256] Chr1:75749427 [GRCh38]
Chr1:76215112 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|uncertain significance
NC_000001.11:g.(?_75761102)_(75762783_?)del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000708106] Chr1:75761102..75762783 [GRCh38]
Chr1:76226787..76228468 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.729A>G (p.Arg243=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001412303] Chr1:75749439 [GRCh38]
Chr1:76215124 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.216+2T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001002300] Chr1:75732743 [GRCh38]
Chr1:76198428 [GRCh37]
Chr1:1p31.1		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p31.1(chr1:75830438-76378738)x3 copy number gain not provided [RCV000749038] Chr1:75830438..76378738 [GRCh37]
Chr1:1p31.1		 benign
GRCh37/hg19 1p31.1(chr1:76177994-76311291)x1 copy number loss not provided [RCV000749040] Chr1:76177994..76311291 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.849+205G>C single nucleotide variant not provided [RCV001608739] Chr1:75749764 [GRCh38]
Chr1:76215449 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.119-83A>C single nucleotide variant not provided [RCV001611406] Chr1:75732561 [GRCh38]
Chr1:76198246 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.945+99T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001533629]|not provided [RCV001673141] Chr1:75750645 [GRCh38]
Chr1:76216330 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.287-223T>G single nucleotide variant not provided [RCV001574823] Chr1:75733305 [GRCh38]
Chr1:76198990 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1103T>C (p.Leu368Ser) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001559197] Chr1:75761279 [GRCh38]
Chr1:76226964 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.387+71G>A single nucleotide variant not provided [RCV001667987] Chr1:75733699 [GRCh38]
Chr1:76199384 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.1186A>G (p.Ile396Val) single nucleotide variant not provided [RCV000761662] Chr1:75761362 [GRCh38]
Chr1:76227047 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.798C>T (p.Asp266=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001463739]|not provided [RCV000994025] Chr1:75749508 [GRCh38]
Chr1:76215193 [GRCh37]
Chr1:1p31.1		 likely benign|uncertain significance
NC_000001.11:g.(?_75724778)_(75762773_?)del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001031818] Chr1:76190463..76228458 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.1090A>G (p.Ile364Val) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001068012] Chr1:75761266 [GRCh38]
Chr1:76226951 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.92G>A (p.Arg31His) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001065937]|not specified [RCV001732031] Chr1:75728462 [GRCh38]
Chr1:76194147 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.15C>A (p.Phe5Leu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001830649]|not provided [RCV000755769] Chr1:75724802 [GRCh38]
Chr1:76190487 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.*5dup (p.Ter422=) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000901070] Chr1:75762761..75762762 [GRCh38]
Chr1:76228446..76228447 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.126C>T (p.Thr42=) single nucleotide variant Inborn genetic diseases [RCV003169516]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000982639] Chr1:75732651 [GRCh38]
Chr1:76198336 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1239T>A (p.Arg413=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000983319] Chr1:75762736 [GRCh38]
Chr1:76228421 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.474T>C (p.Tyr158=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000969144] Chr1:75739985 [GRCh38]
Chr1:76205670 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.33C>T (p.Val11=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000928401] Chr1:75728403 [GRCh38]
Chr1:76194088 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.472T>C (p.Tyr158His) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000995474] Chr1:75739983 [GRCh38]
Chr1:76205668 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.494C>T (p.Ala165Val) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001058728] Chr1:75740005 [GRCh38]
Chr1:76205690 [GRCh37]
Chr1:1p31.1		 likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.686del (p.Pro229fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001069632] Chr1:75745889 [GRCh38]
Chr1:76211574 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.468T>G (p.Cys156Trp) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001037930] Chr1:75734871 [GRCh38]
Chr1:76200556 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.554T>G (p.Ile185Ser) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001037931] Chr1:75740065 [GRCh38]
Chr1:76205750 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1237C>T (p.Arg413Cys) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001054137] Chr1:75762734 [GRCh38]
Chr1:76228419 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.454G>T (p.Glu152Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000779679] Chr1:75734857 [GRCh38]
Chr1:76200542 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.426G>A (p.Lys142=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000944534] Chr1:75734829 [GRCh38]
Chr1:76200514 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.945+9A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000907138] Chr1:75750555 [GRCh38]
Chr1:76216240 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.195A>C (p.Ala65=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000864398] Chr1:75732720 [GRCh38]
Chr1:76198405 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.21A>G (p.Arg7=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000982811] Chr1:75724808 [GRCh38]
Chr1:76190493 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.599+9T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001442729] Chr1:75740119 [GRCh38]
Chr1:76205804 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.945+8T>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609174] Chr1:75750554 [GRCh38]
Chr1:76216239 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.192T>A (p.Ala64=) single nucleotide variant not provided [RCV000943101] Chr1:75732717 [GRCh38]
Chr1:76198402 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.229C>T (p.Leu77=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000977177] Chr1:75732865 [GRCh38]
Chr1:76198550 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.216+7A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002065935] Chr1:75732748 [GRCh38]
Chr1:76198433 [GRCh37]
Chr1:1p31.1		 likely benign
GRCh37/hg19 1p31.1(chr1:71410579-78131158) copy number gain not provided [RCV000767771] Chr1:71410579..78131158 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.287-16C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002068604]|not provided [RCV000841933] Chr1:75733512 [GRCh38]
Chr1:76199197 [GRCh37]
Chr1:1p31.1		 likely benign
GRCh37/hg19 1p31.3-22.3(chr1:67851233-86101340)x1 copy number loss not provided [RCV000846441] Chr1:67851233..86101340 [GRCh37]
Chr1:1p31.3-22.3		 pathogenic
NM_000016.6(ACADM):c.1194+3A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000801600] Chr1:75761373 [GRCh38]
Chr1:76227058 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.286+14A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609171]|not provided [RCV000827188] Chr1:75732936 [GRCh38]
Chr1:76198621 [GRCh37]
Chr1:1p31.1		 likely benign
GRCh37/hg19 1p31.3-31.1(chr1:66868168-77106425)x1 copy number loss not provided [RCV000847457] Chr1:66868168..77106425 [GRCh37]
Chr1:1p31.3-31.1		 pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_000016.1(ACADM):c.-725C>G single nucleotide variant not provided [RCV000842887] Chr1:75724060 [GRCh38]
Chr1:76189745 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.119-296A>G single nucleotide variant not provided [RCV000842888] Chr1:75732348 [GRCh38]
Chr1:76198033 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.600-264A>G single nucleotide variant not provided [RCV000842896] Chr1:75745542 [GRCh38]
Chr1:76211227 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.67C>T (p.Gln23Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000824291] Chr1:75728437 [GRCh38]
Chr1:76194122 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.5(ACADM):c.-436C>G single nucleotide variant not provided [RCV000833351] Chr1:75724352 [GRCh38]
Chr1:76190037 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.608T>A (p.Leu203Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001044608] Chr1:75745814 [GRCh38]
Chr1:76211499 [GRCh37]
Chr1:1p31.1		 pathogenic
NC_000001.11:g.(?_75724768)_(75762783_?)del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001031314] Chr1:76190453..76228468 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.1125A>G (p.Ile375Met) single nucleotide variant Inborn genetic diseases [RCV002440640]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000795831] Chr1:75761301 [GRCh38]
Chr1:76226986 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.945+239_945+240del deletion not provided [RCV000839245] Chr1:75750784..75750785 [GRCh38]
Chr1:76216469..76216470 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.849+253A>T single nucleotide variant not provided [RCV000842899] Chr1:75749812 [GRCh38]
Chr1:76215497 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.397ATT[2] (p.Ile135del) microsatellite Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000805620] Chr1:75734799..75734801 [GRCh38]
Chr1:76200484..76200486 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.657T>C (p.Phe219=) single nucleotide variant ACADM-related condition [RCV003918305]|Inborn genetic diseases [RCV002372381]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001275857]|not provided [RCV000841542] Chr1:75745863 [GRCh38]
Chr1:76211548 [GRCh37]
Chr1:1p31.1		 likely benign
Single allele deletion not provided [RCV000844927] Chr1:66085524..88429789 [GRCh37]
Chr1:1p31.3-22.2		 not provided
NM_000016.6(ACADM):c.217-1G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000796847] Chr1:75732852 [GRCh38]
Chr1:76198537 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.850-79C>G single nucleotide variant not provided [RCV000834870] Chr1:75750372 [GRCh38]
Chr1:76216057 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.30+67C>G single nucleotide variant not provided [RCV000835588] Chr1:75724884 [GRCh38]
Chr1:76190569 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.286+178G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001533627]|not provided [RCV000835589] Chr1:75733100 [GRCh38]
Chr1:76198785 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.393G>A (p.Met131Ile) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000817370] Chr1:75734796 [GRCh38]
Chr1:76200481 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.262A>T (p.Asn88Tyr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001043883] Chr1:75732898 [GRCh38]
Chr1:76198583 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.11:g.(?_75724778)_(75724827_?)del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001032633] Chr1:76190463..76190512 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000986334] Chr1:75732726 [GRCh38]
Chr1:76198411 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.337G>C (p.Ala113Pro) single nucleotide variant not provided [RCV000994024] Chr1:75733578 [GRCh38]
Chr1:76199263 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1085G>A (p.Gly362Glu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001046173] Chr1:75761261 [GRCh38]
Chr1:76226946 [GRCh37]
Chr1:1p31.1		 pathogenic
NC_000001.11:g.(?_75761112)_(75762773_?)del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001032887] Chr1:76226797..76228458 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.85C>T (p.Arg29Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001192881] Chr1:75728455 [GRCh38]
Chr1:76194140 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.1216A>G (p.Ile406Val) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001248609] Chr1:75762713 [GRCh38]
Chr1:76228398 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.277G>A (p.Glu93Lys) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001240423] Chr1:75732913 [GRCh38]
Chr1:76198598 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.601del (p.Tyr201fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001234486] Chr1:75745807 [GRCh38]
Chr1:76211492 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.555T>G (p.Ile185Met) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001209720] Chr1:75740066 [GRCh38]
Chr1:76205751 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.104T>G (p.Leu35Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001238168] Chr1:75728474 [GRCh38]
Chr1:76194159 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.709G>T (p.Glu237Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000986335] Chr1:75749419 [GRCh38]
Chr1:76215104 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.353G>C (p.Gly118Ala) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001246945] Chr1:75733594 [GRCh38]
Chr1:76199279 [GRCh37]
Chr1:1p31.1		 likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.982A>G (p.Met328Val) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001065338] Chr1:75761158 [GRCh38]
Chr1:76226843 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.1211C>T (p.Ser404Leu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003105071] Chr1:75762708 [GRCh38]
Chr1:76228393 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.849+228A>G single nucleotide variant not provided [RCV001569221] Chr1:75749787 [GRCh38]
Chr1:76215472 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.139G>A (p.Glu47Lys) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001559196] Chr1:75732664 [GRCh38]
Chr1:76198349 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.905A>G (p.Tyr302Cys) single nucleotide variant not specified [RCV003317754] Chr1:75750506 [GRCh38]
Chr1:76216191 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002290723]|not provided [RCV001563236]|not specified [RCV003399375] Chr1:75761294 [GRCh38]
Chr1:76226979 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.286+44A>C single nucleotide variant not provided [RCV001546913] Chr1:75732966 [GRCh38]
Chr1:76198651 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.946-323A>G single nucleotide variant not provided [RCV001617531] Chr1:75760799 [GRCh38]
Chr1:76226484 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.850-3_850-2insTAAATACTTAAAAT insertion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001405621] Chr1:75750447..75750448 [GRCh38]
Chr1:76216132..76216133 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.120G>A (p.Glu40=) single nucleotide variant not provided [RCV000916802] Chr1:75732645 [GRCh38]
Chr1:76198330 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1077A>G (p.Ala359=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002066208] Chr1:75761253 [GRCh38]
Chr1:76226938 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.946-7A>T single nucleotide variant not provided [RCV000948543] Chr1:75761115 [GRCh38]
Chr1:76226800 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.579C>T (p.Thr193=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000943843] Chr1:75740090 [GRCh38]
Chr1:76205775 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001222180]|not provided [RCV003156322] Chr1:75761218 [GRCh38]
Chr1:76226903 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.221C>T (p.Pro74Leu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001242189] Chr1:75732857 [GRCh38]
Chr1:76198542 [GRCh37]
Chr1:1p31.1		 likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.581A>G (p.Asn194Ser) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001203427] Chr1:75740092 [GRCh38]
Chr1:76205777 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.785T>A (p.Val262Asp) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001218981] Chr1:75749495 [GRCh38]
Chr1:76215180 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.865G>T (p.Val289Phe) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001227536] Chr1:75750466 [GRCh38]
Chr1:76216151 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1075G>C (p.Ala359Pro) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001227691] Chr1:75761251 [GRCh38]
Chr1:76226936 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.119-1G>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001045324] Chr1:75732643 [GRCh38]
Chr1:76198328 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.-6_6delinsACCCCGAGTG (p.Met1fs) indel Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001241741] Chr1:75724782..75724793 [GRCh38]
Chr1:76190467..76190478 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.945+9A>C single nucleotide variant not provided [RCV000912422] Chr1:75750555 [GRCh38]
Chr1:76216240 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.118+10C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV000912729] Chr1:75728498 [GRCh38]
Chr1:76194183 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.600-275AT[4] microsatellite not provided [RCV001657388] Chr1:75745530..75745531 [GRCh38]
Chr1:76211215..76211216 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.119-2A>G single nucleotide variant not provided [RCV002255109] Chr1:75732642 [GRCh38]
Chr1:76198327 [GRCh37]
Chr1:1p31.1		 not provided
NM_000016.6(ACADM):c.945+220dup duplication not provided [RCV001568544] Chr1:75750751..75750752 [GRCh38]
Chr1:76216436..76216437 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.849+153C>T single nucleotide variant not provided [RCV001555381] Chr1:75749712 [GRCh38]
Chr1:76215397 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.71A>G (p.His24Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002471557] Chr1:75728441 [GRCh38]
Chr1:76194126 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.960A>G (p.Ser320=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001027918] Chr1:75761136 [GRCh38]
Chr1:76226821 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.946-250G>C single nucleotide variant not provided [RCV001596806] Chr1:75760872 [GRCh38]
Chr1:76226557 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.708+299G>T single nucleotide variant not provided [RCV001593420] Chr1:75746213 [GRCh38]
Chr1:76211898 [GRCh37]
Chr1:1p31.1		 likely benign
NC_000001.11:g.75724261G>T single nucleotide variant not provided [RCV001597563] Chr1:75724261 [GRCh38]
Chr1:76189946 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.388-284C>T single nucleotide variant not provided [RCV001593920] Chr1:75734507 [GRCh38]
Chr1:76200192 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.503A>G (p.Asp168Gly) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001035924] Chr1:75740014 [GRCh38]
Chr1:76205699 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.1165A>G (p.Lys389Glu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001099246] Chr1:75761341 [GRCh38]
Chr1:76227026 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.407C>T (p.Ala136Val) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001065936] Chr1:75734810 [GRCh38]
Chr1:76200495 [GRCh37]
Chr1:1p31.1		 pathogenic|uncertain significance
NM_000016.6(ACADM):c.276A>G (p.Pro92=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001101143] Chr1:75732912 [GRCh38]
Chr1:76198597 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.849+153_849+156del microsatellite not provided [RCV001616627] Chr1:75749705..75749708 [GRCh38]
Chr1:76215390..76215393 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.927C>T (p.Phe309=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001099148] Chr1:75750528 [GRCh38]
Chr1:76216213 [GRCh37]
Chr1:1p31.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_000016.6(ACADM):c.1022C>G (p.Ala341Gly) single nucleotide variant Inborn genetic diseases [RCV002445381]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001099149] Chr1:75761198 [GRCh38]
Chr1:76226883 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.973dup (p.Glu325fs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001035228] Chr1:75761148..75761149 [GRCh38]
Chr1:76226833..76226834 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.945+288C>T single nucleotide variant not provided [RCV001709803] Chr1:75750834 [GRCh38]
Chr1:76216519 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.118+133A>G single nucleotide variant not provided [RCV001671488] Chr1:75728621 [GRCh38]
Chr1:76194306 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.30+188C>A single nucleotide variant not provided [RCV001651504] Chr1:75725005 [GRCh38]
Chr1:76190690 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.387+91dup duplication not provided [RCV001669238] Chr1:75733710..75733711 [GRCh38]
Chr1:76199395..76199396 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.388-307A>G single nucleotide variant not provided [RCV001640827] Chr1:75734484 [GRCh38]
Chr1:76200169 [GRCh37]
Chr1:1p31.1		 benign
NC_000001.11:g.(?_75724778)_(75750556_?)del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001033551] Chr1:76190463..76216241 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.849+172del deletion not provided [RCV001667631] Chr1:75749713 [GRCh38]
Chr1:76215398 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.849+171_849+172del deletion not provided [RCV001582255] Chr1:75749713..75749714 [GRCh38]
Chr1:76215398..76215399 [GRCh37]
Chr1:1p31.1		 likely benign
NC_000001.11:g.(?_75724768)_(75724837_?)del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001031785] Chr1:76190453..76190522 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.1194+223A>G single nucleotide variant not provided [RCV001680602] Chr1:75761593 [GRCh38]
Chr1:76227278 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.387+40G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001832788]|not provided [RCV001574827] Chr1:75733668 [GRCh38]
Chr1:76199353 [GRCh37]
Chr1:1p31.1		 benign|likely benign
NM_000016.6(ACADM):c.327T>A (p.Ser109Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001217520] Chr1:75733568 [GRCh38]
Chr1:76199253 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.576A>G (p.Ile192Met) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001206244] Chr1:75740087 [GRCh38]
Chr1:76205772 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.468+2T>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001232183] Chr1:75734873 [GRCh38]
Chr1:76200558 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.333_345del (p.Glu111fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001053726] Chr1:75733572..75733584 [GRCh38]
Chr1:76199257..76199269 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001219018] Chr1:75732877 [GRCh38]
Chr1:76198562 [GRCh37]
Chr1:1p31.1		 likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.289G>A (p.Gly97Ser) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001233216] Chr1:75733530 [GRCh38]
Chr1:76199215 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.-78G>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001101142] Chr1:75724710 [GRCh38]
Chr1:76190395 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.708G>C (p.Lys236Asn) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001214263] Chr1:75745914 [GRCh38]
Chr1:76211599 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001050144] Chr1:75740103 [GRCh38]
Chr1:76205788 [GRCh37]
Chr1:1p31.1		 likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001064801]|not specified [RCV003387959] Chr1:75745874 [GRCh38]
Chr1:76211559 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.*826T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001101247] Chr1:75763589 [GRCh38]
Chr1:76229274 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.640C>G (p.Pro214Ala) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001278141] Chr1:75745846 [GRCh38]
Chr1:76211531 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.379T>C (p.Ser127Pro) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001316757] Chr1:75733620 [GRCh38]
Chr1:76199305 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.946-4C>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001394583] Chr1:75761118 [GRCh38]
Chr1:76226803 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.171A>G (p.Arg57=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001414479] Chr1:75732696 [GRCh38]
Chr1:76198381 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.799_803del (p.Gly267fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001382469] Chr1:75749508..75749512 [GRCh38]
Chr1:76215193..76215197 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.388-6C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001395437] Chr1:75734785 [GRCh38]
Chr1:76200470 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.377del (p.Asn126fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001382712] Chr1:75733616 [GRCh38]
Chr1:76199301 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.946-2dup duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001313549] Chr1:75761119..75761120 [GRCh38]
Chr1:76226804..76226805 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.30+9G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001396376] Chr1:75724826 [GRCh38]
Chr1:76190511 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.30+9G>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001392305] Chr1:75724826 [GRCh38]
Chr1:76190511 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.708+6G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001358986] Chr1:75745920 [GRCh38]
Chr1:76211605 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1021G>A (p.Ala341Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001324190] Chr1:75761197 [GRCh38]
Chr1:76226882 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.564G>A (p.Gln188=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001278139] Chr1:75740075 [GRCh38]
Chr1:76205760 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.595A>G (p.Asn199Asp) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001278140] Chr1:75740106 [GRCh38]
Chr1:76205791 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.382T>C (p.Leu128=) single nucleotide variant Inborn genetic diseases [RCV002358942]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001421830] Chr1:75733623 [GRCh38]
Chr1:76199308 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.279G>A (p.Glu93=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001414185] Chr1:75732915 [GRCh38]
Chr1:76198600 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.615A>G (p.Ala205=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001394753] Chr1:75745821 [GRCh38]
Chr1:76211506 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.622G>T (p.Asp208Tyr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001367447] Chr1:75745828 [GRCh38]
Chr1:76211513 [GRCh37]
Chr1:1p31.1		 likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.216+10T>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001395192] Chr1:75732751 [GRCh38]
Chr1:76198436 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.610T>C (p.Leu204=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001472979]|not specified [RCV001806195] Chr1:75745816 [GRCh38]
Chr1:76211501 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.31-4A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001492111] Chr1:75728397 [GRCh38]
Chr1:76194082 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1045C>G (p.Arg349Gly) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001380177] Chr1:75761221 [GRCh38]
Chr1:76226906 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.1120C>T (p.Gln374Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001384348] Chr1:75761296 [GRCh38]
Chr1:76226981 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.216+5G>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001377676] Chr1:75732746 [GRCh38]
Chr1:76198431 [GRCh37]
Chr1:1p31.1		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000016.6(ACADM):c.217-2A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001377846] Chr1:75732851 [GRCh38]
Chr1:76198536 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.600-9A>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001482462] Chr1:75745797 [GRCh38]
Chr1:76211482 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.469-4C>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001488301] Chr1:75739976 [GRCh38]
Chr1:76205661 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1041T>G (p.Gly347=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001425791] Chr1:75761217 [GRCh38]
Chr1:76226902 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.459A>G (p.Pro153=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001491650] Chr1:75734862 [GRCh38]
Chr1:76200547 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.213T>G (p.Gly71=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001431644] Chr1:75732738 [GRCh38]
Chr1:76198423 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.936A>T (p.Leu312=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001491748] Chr1:75750537 [GRCh38]
Chr1:76216222 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.6A>C (p.Ala2=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001457339] Chr1:75724793 [GRCh38]
Chr1:76190478 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1194+9A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001438370] Chr1:75761379 [GRCh38]
Chr1:76227064 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1032T>A (p.Val344=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001434233] Chr1:75761208 [GRCh38]
Chr1:76226893 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.217-10T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001418647] Chr1:75732843 [GRCh38]
Chr1:76198528 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.203del (p.Asp68fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001380406] Chr1:75732728 [GRCh38]
Chr1:76198413 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.12G>C (p.Gly4=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001410091] Chr1:75724799 [GRCh38]
Chr1:76190484 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1239T>C (p.Arg413=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001436014] Chr1:75762736 [GRCh38]
Chr1:76228421 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.441G>T (p.Gly147=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001430629] Chr1:75734844 [GRCh38]
Chr1:76200529 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.554T>C (p.Ile185Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001389952] Chr1:75740065 [GRCh38]
Chr1:76205750 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.1227T>G (p.Leu409=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001447221] Chr1:75762724 [GRCh38]
Chr1:76228409 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.99A>G (p.Pro33=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001423655] Chr1:75728469 [GRCh38]
Chr1:76194154 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.981A>C (p.Ala327=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001434325] Chr1:75761157 [GRCh38]
Chr1:76226842 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.756C>T (p.Phe252=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001423898] Chr1:75749466 [GRCh38]
Chr1:76215151 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.771G>A (p.Val257=) single nucleotide variant Inborn genetic diseases [RCV003298663]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001403964] Chr1:75749481 [GRCh38]
Chr1:76215166 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.735A>T (p.Ser245=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001448131] Chr1:75749445 [GRCh38]
Chr1:76215130 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.232A>G (p.Ile78Val) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001378913] Chr1:75732868 [GRCh38]
Chr1:76198553 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.709-4T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001411528] Chr1:75749415 [GRCh38]
Chr1:76215100 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.849+2T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001384740] Chr1:75749561 [GRCh38]
Chr1:76215246 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.399T>C (p.Ile133=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001478970] Chr1:75734802 [GRCh38]
Chr1:76200487 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.705A>G (p.Arg235=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001450927] Chr1:75745911 [GRCh38]
Chr1:76211596 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.287-5T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001483049] Chr1:75733523 [GRCh38]
Chr1:76199208 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.30+66C>T single nucleotide variant not provided [RCV001717012] Chr1:75724883 [GRCh38]
Chr1:76190568 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.1155T>C (p.Tyr385=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001497439] Chr1:75761331 [GRCh38]
Chr1:76227016 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.30+8G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001481035] Chr1:75724825 [GRCh38]
Chr1:76190510 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1206T>C (p.Gly402=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001501200] Chr1:75762703 [GRCh38]
Chr1:76228388 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.855T>C (p.Ala285=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001488627] Chr1:75750456 [GRCh38]
Chr1:76216141 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1195-7del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001456866] Chr1:75762685 [GRCh38]
Chr1:76228370 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.850-270C>T single nucleotide variant not provided [RCV001612401] Chr1:75750181 [GRCh38]
Chr1:76215866 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.243_250del (p.Glu83fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001386787] Chr1:75732878..75732885 [GRCh38]
Chr1:76198563..76198570 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.579C>G (p.Thr193=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001498281] Chr1:75740090 [GRCh38]
Chr1:76205775 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.402T>A (p.Ile134=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001406674] Chr1:75734805 [GRCh38]
Chr1:76200490 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1010A>C (p.Tyr337Ser) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001378635] Chr1:75761186 [GRCh38]
Chr1:76226871 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.1167A>G (p.Lys389=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001436646] Chr1:75761343 [GRCh38]
Chr1:76227028 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.6A>T (p.Ala2=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001483626] Chr1:75724793 [GRCh38]
Chr1:76190478 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.732T>C (p.Cys244=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001393768] Chr1:75749442 [GRCh38]
Chr1:76215127 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.388-1G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001379401] Chr1:75734790 [GRCh38]
Chr1:76200475 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.34C>T (p.Leu12=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001416419] Chr1:75728404 [GRCh38]
Chr1:76194089 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.903G>A (p.Lys301=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001427086] Chr1:75750504 [GRCh38]
Chr1:76216189 [GRCh37]
Chr1:1p31.1		 likely benign
NC_000001.10:g.(76216232_76226806)_(76229365_?)del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002240075] Chr1:76226806..76229365 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.112A>C (p.Ser38Arg) single nucleotide variant not provided [RCV001752416] Chr1:75728482 [GRCh38]
Chr1:76194167 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1068_1071dup (p.Lys358fs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001780641] Chr1:75761243..75761244 [GRCh38]
Chr1:76226928..76226929 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.514A>G (p.Ile172Val) single nucleotide variant not provided [RCV001758019] Chr1:75740025 [GRCh38]
Chr1:76205710 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.214G>A (p.Glu72Lys) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002290767]|not provided [RCV001806652] Chr1:75732739 [GRCh38]
Chr1:76198424 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.232dup (p.Ile78fs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001802737] Chr1:75732866..75732867 [GRCh38]
Chr1:76198551..76198552 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001971369] Chr1:75762726 [GRCh38]
Chr1:76228411 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NC_000001.10:g.(?_76190473)_(76190522_?)del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001949507] Chr1:76190473..76190522 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.949C>G (p.Gln317Glu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002025221] Chr1:75761125 [GRCh38]
Chr1:76226810 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.30+2T>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001874559] Chr1:75724819 [GRCh38]
Chr1:76190504 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.371A>G (p.Glu124Gly) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001969223] Chr1:75733612 [GRCh38]
Chr1:76199297 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.338C>A (p.Ala113Asp) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002043188] Chr1:75733579 [GRCh38]
Chr1:76199264 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.24C>A (p.Cys8Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001914071] Chr1:75724811 [GRCh38]
Chr1:76190496 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.311A>G (p.Asp104Gly) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001970949] Chr1:75733552 [GRCh38]
Chr1:76199237 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.271_273del (p.Ile91del) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002045070] Chr1:75732907..75732909 [GRCh38]
Chr1:76198592..76198594 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1175G>A (p.Arg392Lys) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001967547] Chr1:75761351 [GRCh38]
Chr1:76227036 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.746G>A (p.Gly249Glu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001910349] Chr1:75749456 [GRCh38]
Chr1:76215141 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.56A>G (p.His19Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001911024] Chr1:75728426 [GRCh38]
Chr1:76194111 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_76190473)_(76216251_?)del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001946988] Chr1:76190473..76216251 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.206A>G (p.Lys69Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001969521] Chr1:75732731 [GRCh38]
Chr1:76198416 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.708+3A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001863405] Chr1:75745917 [GRCh38]
Chr1:76211602 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.168del (p.Arg57fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002007490] Chr1:75732692 [GRCh38]
Chr1:76198377 [GRCh37]
Chr1:1p31.1		 pathogenic
GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957) copy number loss not specified [RCV002053392] Chr1:68180293..92731957 [GRCh37]
Chr1:1p31.3-22.1		 pathogenic
NM_000016.6(ACADM):c.31-2A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002044077] Chr1:75728399 [GRCh38]
Chr1:76194084 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.87A>G (p.Arg29=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001863263] Chr1:75728457 [GRCh38]
Chr1:76194142 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.744A>C (p.Arg248Ser) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002023473] Chr1:75749454 [GRCh38]
Chr1:76215139 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.683C>T (p.Thr228Ile) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002024267]|not specified [RCV003226527] Chr1:75745889 [GRCh38]
Chr1:76211574 [GRCh37]
Chr1:1p31.1		 likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.631C>T (p.Pro211Ser) single nucleotide variant not specified [RCV001844478] Chr1:75745837 [GRCh38]
Chr1:76211522 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.12G>T (p.Gly4=) single nucleotide variant ACADM-related condition [RCV003892187]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002023090] Chr1:75724799 [GRCh38]
Chr1:76190484 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.383dup (p.Leu128fs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002002524] Chr1:75733621..75733622 [GRCh38]
Chr1:76199306..76199307 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.801del (p.Ala268fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001894762] Chr1:75749511 [GRCh38]
Chr1:76215196 [GRCh37]
Chr1:1p31.1		 pathogenic
NC_000001.10:g.(?_76190473)_(76200576_?)del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001975203] Chr1:76190473..76200576 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.30+4A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001993883] Chr1:75724821 [GRCh38]
Chr1:76190506 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.342T>A (p.Tyr114Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001941911] Chr1:75733583 [GRCh38]
Chr1:76199268 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.613G>C (p.Ala205Pro) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001962948] Chr1:75745819 [GRCh38]
Chr1:76211504 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.652del (p.Ala218fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001879063] Chr1:75745858 [GRCh38]
Chr1:76211543 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.253G>C (p.Gly85Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001999884] Chr1:75732889 [GRCh38]
Chr1:76198574 [GRCh37]
Chr1:1p31.1		 pathogenic
NC_000001.10:g.(?_76211473)_(76228458_?)del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001887402] Chr1:76211473..76228458 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.927C>G (p.Phe309Leu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001994350] Chr1:75750528 [GRCh38]
Chr1:76216213 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.468+2T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001917184] Chr1:75734873 [GRCh38]
Chr1:76200558 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.1011C>A (p.Tyr337Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001941537] Chr1:75761187 [GRCh38]
Chr1:76226872 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.625C>G (p.Pro209Ala) single nucleotide variant Inborn genetic diseases [RCV002361333]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001973460] Chr1:75745831 [GRCh38]
Chr1:76211516 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1022_1029del (p.Ala341fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001956559] Chr1:75761196..75761203 [GRCh38]
Chr1:76226881..76226888 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.1042del (p.Arg348fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001943690] Chr1:75761218 [GRCh38]
Chr1:76226903 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.77A>C (p.Lys26Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001934853] Chr1:75728447 [GRCh38]
Chr1:76194132 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.589A>G (p.Lys197Glu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001974213] Chr1:75740100 [GRCh38]
Chr1:76205785 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.1067T>C (p.Ile356Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001880551] Chr1:75761243 [GRCh38]
Chr1:76226928 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.656T>G (p.Phe219Cys) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001876665] Chr1:75745862 [GRCh38]
Chr1:76211547 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_76211473)_(76211609_?)dup duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001989107] Chr1:76211473..76211609 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.265A>C (p.Thr89Pro) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001919885] Chr1:75732901 [GRCh38]
Chr1:76198586 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1A>T (p.Met1Leu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001936170] Chr1:75724788 [GRCh38]
Chr1:76190473 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.342_343dup (p.Gly115fs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001993297] Chr1:75733582..75733583 [GRCh38]
Chr1:76199267..76199268 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.154_156del (p.Ala52del) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001934723] Chr1:75732677..75732679 [GRCh38]
Chr1:76198362..76198364 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_76194064)_(76216241_?)del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001972490] Chr1:76194064..76216241 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.653C>G (p.Ala218Gly) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001901697] Chr1:75745859 [GRCh38]
Chr1:76211544 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NC_000001.10:g.(?_76216126)_(76216241_?)del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002033642] Chr1:76216126..76216241 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.614C>T (p.Ala205Val) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001900563] Chr1:75745820 [GRCh38]
Chr1:76211505 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.694C>G (p.Gln232Glu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002035153] Chr1:75745900 [GRCh38]
Chr1:76211585 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.727C>T (p.Arg243Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001934287]|not provided [RCV002307800] Chr1:75749437 [GRCh38]
Chr1:76215122 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.337G>A (p.Ala113Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001978099] Chr1:75733578 [GRCh38]
Chr1:76199263 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.518del (p.Lys173fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001960687] Chr1:75740027 [GRCh38]
Chr1:76205712 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.1010dup (p.Tyr337Ter) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001960737] Chr1:75761185..75761186 [GRCh38]
Chr1:76226870..76226871 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.1046G>A (p.Arg349Gln) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001982238] Chr1:75761222 [GRCh38]
Chr1:76226907 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.260T>C (p.Met87Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001953444] Chr1:75732896 [GRCh38]
Chr1:76198581 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NC_000001.10:g.(?_76199203)_(76205805_?)dup duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002036705] Chr1:76199203..76205805 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.310G>A (p.Asp104Asn) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002027156] Chr1:75733551 [GRCh38]
Chr1:76199236 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.778_782del (p.Glu260fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001953660] Chr1:75749485..75749489 [GRCh38]
Chr1:76215170..76215174 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.234T>G (p.Ile78Met) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002049713] Chr1:75732870 [GRCh38]
Chr1:76198555 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.721G>A (p.Gly241Ser) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002013214] Chr1:75749431 [GRCh38]
Chr1:76215116 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.202G>A (p.Asp68Asn) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001922884] Chr1:75732727 [GRCh38]
Chr1:76198412 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.741_742dup (p.Arg248fs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001994849] Chr1:75749450..75749451 [GRCh38]
Chr1:76215135..76215136 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.600-1G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001996228] Chr1:75745805 [GRCh38]
Chr1:76211490 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.321A>C (p.Leu107Phe) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001989423] Chr1:75733562 [GRCh38]
Chr1:76199247 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.206A>T (p.Lys69Ile) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV001902183]|not provided [RCV003478886] Chr1:75732731 [GRCh38]
Chr1:76198416 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.667A>G (p.Ile223Val) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002015950] Chr1:75745873 [GRCh38]
Chr1:76211558 [GRCh37]
Chr1:1p31.1		 likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.286+9_286+10insTTTTT insertion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002210332] Chr1:75732928..75732929 [GRCh38]
Chr1:76198613..76198614 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.618T>C (p.Arg206=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002190406] Chr1:75745824 [GRCh38]
Chr1:76211509 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.708+10T>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002092122] Chr1:75745924 [GRCh38]
Chr1:76211609 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.600-19C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002107366] Chr1:75745787 [GRCh38]
Chr1:76211472 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1032T>C (p.Val344=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002125754] Chr1:75761208 [GRCh38]
Chr1:76226893 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.119-10_119-8dup duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002072436] Chr1:75732632..75732633 [GRCh38]
Chr1:76198317..76198318 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.945+19G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002106682] Chr1:75750565 [GRCh38]
Chr1:76216250 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.438G>A (p.Leu146=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002125948] Chr1:75734841 [GRCh38]
Chr1:76200526 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.879A>G (p.Gln293=) single nucleotide variant Inborn genetic diseases [RCV002372840]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002164839] Chr1:75750480 [GRCh38]
Chr1:76216165 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.132G>A (p.Gln44=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002148089] Chr1:75732657 [GRCh38]
Chr1:76198342 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.990T>A (p.Val330=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002084788] Chr1:75761166 [GRCh38]
Chr1:76226851 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1095A>G (p.Ala365=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002147179] Chr1:75761271 [GRCh38]
Chr1:76226956 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.31-5T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002088233] Chr1:75728396 [GRCh38]
Chr1:76194081 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.187G>C (p.Val63Leu) single nucleotide variant Inborn genetic diseases [RCV003061741]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002106634]|not specified [RCV002266106] Chr1:75732712 [GRCh38]
Chr1:76198397 [GRCh37]
Chr1:1p31.1		 likely benign|uncertain significance
NM_000016.6(ACADM):c.150T>A (p.Ala50=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002185473] Chr1:75732675 [GRCh38]
Chr1:76198360 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.627A>G (p.Pro209=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002081145] Chr1:75745833 [GRCh38]
Chr1:76211518 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.6A>G (p.Ala2=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002213469] Chr1:75724793 [GRCh38]
Chr1:76190478 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.945+18T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002152523] Chr1:75750564 [GRCh38]
Chr1:76216249 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.471T>C (p.Ala157=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002213109] Chr1:75739982 [GRCh38]
Chr1:76205667 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1086A>C (p.Gly362=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002153731] Chr1:75761262 [GRCh38]
Chr1:76226947 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1101G>A (p.Gln367=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002089832] Chr1:75761277 [GRCh38]
Chr1:76226962 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.225C>A (p.Val75=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002197517] Chr1:75732861 [GRCh38]
Chr1:76198546 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.108A>G (p.Gly36=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002211875] Chr1:75728478 [GRCh38]
Chr1:76194163 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.753C>T (p.Val251=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002153633] Chr1:75749463 [GRCh38]
Chr1:76215148 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1149A>G (p.Thr383=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002197597] Chr1:75761325 [GRCh38]
Chr1:76227010 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.396T>C (p.Pro132=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002149061] Chr1:75734799 [GRCh38]
Chr1:76200484 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.363T>C (p.Thr121=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002096056] Chr1:75733604 [GRCh38]
Chr1:76199289 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.460T>C (p.Leu154=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002134337] Chr1:75734863 [GRCh38]
Chr1:76200548 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.31-8C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002084849] Chr1:75728393 [GRCh38]
Chr1:76194078 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.480A>C (p.Val160=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002076571] Chr1:75739991 [GRCh38]
Chr1:76205676 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.183C>T (p.Ile61=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002172186] Chr1:75732708 [GRCh38]
Chr1:76198393 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.30+18G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002121342] Chr1:75724835 [GRCh38]
Chr1:76190520 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.366T>C (p.Ala122=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002177311] Chr1:75733607 [GRCh38]
Chr1:76199292 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.287-6C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002220848] Chr1:75733522 [GRCh38]
Chr1:76199207 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.687A>C (p.Pro229=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002098372] Chr1:75745893 [GRCh38]
Chr1:76211578 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.468+7_468+8del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002218588] Chr1:75734877..75734878 [GRCh38]
Chr1:76200562..76200563 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.599+12A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002137676] Chr1:75740122 [GRCh38]
Chr1:76205807 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.90A>G (p.Gln30=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002143305] Chr1:75728460 [GRCh38]
Chr1:76194145 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.153T>G (p.Thr51=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002102635] Chr1:75732678 [GRCh38]
Chr1:76198363 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1053C>T (p.Thr351=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002140169] Chr1:75761229 [GRCh38]
Chr1:76226914 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.708+9T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002156997] Chr1:75745923 [GRCh38]
Chr1:76211608 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.321A>G (p.Leu107=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002082797] Chr1:75733562 [GRCh38]
Chr1:76199247 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1176G>A (p.Arg392=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002182284] Chr1:75761352 [GRCh38]
Chr1:76227037 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.165T>C (p.Phe55=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002138267] Chr1:75732690 [GRCh38]
Chr1:76198375 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.348T>C (p.Cys116=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002201032] Chr1:75733589 [GRCh38]
Chr1:76199274 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.19C>T (p.Arg7Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002222985] Chr1:75724806 [GRCh38]
Chr1:76190491 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.306_307insG (p.Phe103fs) insertion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002222937] Chr1:75733547..75733548 [GRCh38]
Chr1:76199232..76199233 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.30+20T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002175210] Chr1:75724837 [GRCh38]
Chr1:76190522 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.119-16A>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002199934] Chr1:75732628 [GRCh38]
Chr1:76198313 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.388-4G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002081794] Chr1:75734787 [GRCh38]
Chr1:76200472 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.456G>A (p.Glu152=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002177478] Chr1:75734859 [GRCh38]
Chr1:76200544 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.468+19C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002144223] Chr1:75734890 [GRCh38]
Chr1:76200575 [GRCh37]
Chr1:1p31.1		 likely benign
NC_000001.10:g.(?_76228367)_(76228458_?)del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003119072] Chr1:76228367..76228458 [GRCh37]
Chr1:1p31.1		 pathogenic
NC_000001.10:g.(?_76190473)_(76228448_?)dup duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003119073] Chr1:76190473..76228448 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_76205645)_(76228448_?)dup duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003119074] Chr1:76205645..76228448 [GRCh37]
Chr1:1p31.1		 uncertain significance
NC_000001.10:g.(?_76198435)_(76205598_?)del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003119075] Chr1:76198435..76205598 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.443G>T (p.Arg148Ile) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003121847] Chr1:75734846 [GRCh38]
Chr1:76200531 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.136_158dup (p.Phe55fs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003121877] Chr1:75732659..75732660 [GRCh38]
Chr1:76198344..76198345 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.218A>C (p.Tyr73Ser) single nucleotide variant not specified [RCV002246936] Chr1:75732854 [GRCh38]
Chr1:76198539 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.468+1G>A single nucleotide variant not provided [RCV003154130] Chr1:75734872 [GRCh38]
Chr1:76200557 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.350C>T (p.Thr117Ile) single nucleotide variant not provided [RCV002287114] Chr1:75733591 [GRCh38]
Chr1:76199276 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1070C>G (p.Ala357Gly) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002297019] Chr1:75761246 [GRCh38]
Chr1:76226931 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.388-2A>G single nucleotide variant not provided [RCV002291066] Chr1:75734789 [GRCh38]
Chr1:76200474 [GRCh37]
Chr1:1p31.1		 not provided
Single allele duplication not specified [RCV002286371] Chr1:66885559..77949895 [GRCh38]
Chr1:1p31.3-31.1		 uncertain significance
NM_000016.6(ACADM):c.1217T>G (p.Ile406Ser) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002297673] Chr1:75762714 [GRCh38]
Chr1:76228399 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.430A>T (p.Lys144Ter) single nucleotide variant Abnormal circulating lipid concentration [RCV002287741]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003502618]|not provided [RCV003326625] Chr1:75734833 [GRCh38]
Chr1:76200518 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.341A>G (p.Tyr114Cys) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002467391] Chr1:75733582 [GRCh38]
Chr1:76199267 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.599G>A (p.Trp200Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002309608] Chr1:75740110 [GRCh38]
Chr1:76205795 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.348T>A (p.Cys116Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002308437] Chr1:75733589 [GRCh38]
Chr1:76199274 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.968T>C (p.Leu323Pro) single nucleotide variant Inborn genetic diseases [RCV002376582] Chr1:75761144 [GRCh38]
Chr1:76226829 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.212del (p.Gly71fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002306849] Chr1:75732736 [GRCh38]
Chr1:76198421 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.507A>G (p.Val169=) single nucleotide variant Inborn genetic diseases [RCV002335868]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003102684] Chr1:75740018 [GRCh38]
Chr1:76205703 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.193dup (p.Ala65fs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002306958] Chr1:75732717..75732718 [GRCh38]
Chr1:76198402..76198403 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.400A>G (p.Ile134Val) single nucleotide variant Inborn genetic diseases [RCV002375702] Chr1:75734803 [GRCh38]
Chr1:76200488 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.32T>C (p.Val11Ala) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002301080] Chr1:75728402 [GRCh38]
Chr1:76194087 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.321_322del (p.Leu107fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002309736] Chr1:75733562..75733563 [GRCh38]
Chr1:76199247..76199248 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.556_557del (p.Asn186fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002309990] Chr1:75740067..75740068 [GRCh38]
Chr1:76205752..76205753 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.467del (p.Cys156fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002307109] Chr1:75734870 [GRCh38]
Chr1:76200555 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.600G>A (p.Trp200Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002307322] Chr1:75745806 [GRCh38]
Chr1:76211491 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.849+13G>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002771625] Chr1:75749572 [GRCh38]
Chr1:76215257 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.936A>G (p.Leu312=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002837473] Chr1:75750537 [GRCh38]
Chr1:76216222 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.584G>A (p.Gly195Glu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003034578] Chr1:75740095 [GRCh38]
Chr1:76205780 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.600-8T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002862770] Chr1:75745798 [GRCh38]
Chr1:76211483 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.651A>C (p.Lys217Asn) single nucleotide variant Inborn genetic diseases [RCV002879664] Chr1:75745857 [GRCh38]
Chr1:76211542 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.118+17A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002775671] Chr1:75728505 [GRCh38]
Chr1:76194190 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.823_824dup (p.Ala276fs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002908206] Chr1:75749531..75749532 [GRCh38]
Chr1:76215216..76215217 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.532A>C (p.Lys178Gln) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003076708] Chr1:75740043 [GRCh38]
Chr1:76205728 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1248T>C (p.Ile416=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003012505] Chr1:75762745 [GRCh38]
Chr1:76228430 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.639T>C (p.Ala213=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002881965] Chr1:75745845 [GRCh38]
Chr1:76211530 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.946-20T>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003075428] Chr1:75761102 [GRCh38]
Chr1:76226787 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.270C>T (p.His90=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002881865] Chr1:75732906 [GRCh38]
Chr1:76198591 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.30+8G>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002735943] Chr1:75724825 [GRCh38]
Chr1:76190510 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.783T>C (p.Asn261=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003020362] Chr1:75749493 [GRCh38]
Chr1:76215178 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1195-14T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003077411] Chr1:75762678 [GRCh38]
Chr1:76228363 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1205G>A (p.Gly402Asp) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002619245]|not specified [RCV003324075] Chr1:75762702 [GRCh38]
Chr1:76228387 [GRCh37]
Chr1:1p31.1		 likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.31-20A>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002691036] Chr1:75728381 [GRCh38]
Chr1:76194066 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1236C>G (p.Ala412=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002823950] Chr1:75762733 [GRCh38]
Chr1:76228418 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1194+6G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003020601] Chr1:75761376 [GRCh38]
Chr1:76227061 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1195-8dup duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002781570] Chr1:75762679..75762680 [GRCh38]
Chr1:76228364..76228365 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.599+19C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003019145] Chr1:75740129 [GRCh38]
Chr1:76205814 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.31-16A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002621553] Chr1:75728385 [GRCh38]
Chr1:76194070 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.659C>G (p.Thr220Ser) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002781034] Chr1:75745865 [GRCh38]
Chr1:76211550 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.859G>C (p.Gly287Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002820650] Chr1:75750460 [GRCh38]
Chr1:76216145 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.835A>T (p.Lys279Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002866345] Chr1:75749545 [GRCh38]
Chr1:76215230 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.706A>T (p.Lys236Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002796054] Chr1:75745912 [GRCh38]
Chr1:76211597 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.709-7T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003037678] Chr1:75749412 [GRCh38]
Chr1:76215097 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.876A>G (p.Ala292=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002889183] Chr1:75750477 [GRCh38]
Chr1:76216162 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.366T>A (p.Ala122=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002952640] Chr1:75733607 [GRCh38]
Chr1:76199292 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.477T>C (p.Cys159=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002690742] Chr1:75739988 [GRCh38]
Chr1:76205673 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.11G>T (p.Gly4Val) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003080189] Chr1:75724798 [GRCh38]
Chr1:76190483 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.751G>A (p.Val251Ile) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002949073] Chr1:75749461 [GRCh38]
Chr1:76215146 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.168C>T (p.Ala56=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002846862] Chr1:75732693 [GRCh38]
Chr1:76198378 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.30+1G>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002780287] Chr1:75724818 [GRCh38]
Chr1:76190503 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
NM_000016.6(ACADM):c.1054_1057dup (p.Tyr353fs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002820277] Chr1:75761229..75761230 [GRCh38]
Chr1:76226914..76226915 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.871T>G (p.Leu291Val) single nucleotide variant Inborn genetic diseases [RCV002692352] Chr1:75750472 [GRCh38]
Chr1:76216157 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1221A>G (p.Gln407=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002668058] Chr1:75762718 [GRCh38]
Chr1:76228403 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.598T>C (p.Trp200Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002790430] Chr1:75740109 [GRCh38]
Chr1:76205794 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.118+10C>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003007883] Chr1:75728498 [GRCh38]
Chr1:76194183 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.725A>G (p.Gln242Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002801373] Chr1:75749435 [GRCh38]
Chr1:76215120 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.225C>T (p.Val75=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002801710] Chr1:75732861 [GRCh38]
Chr1:76198546 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.546G>A (p.Glu182=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003040157] Chr1:75740057 [GRCh38]
Chr1:76205742 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.881_882delinsTT (p.Arg294Ile) indel Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003024091] Chr1:75750482..75750483 [GRCh38]
Chr1:76216167..76216168 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.455A>G (p.Glu152Gly) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002871656] Chr1:75734858 [GRCh38]
Chr1:76200543 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.863_865dup (p.Ala288_Val289insAla) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003024184] Chr1:75750461..75750462 [GRCh38]
Chr1:76216146..76216147 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.600-9A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002872258] Chr1:75745797 [GRCh38]
Chr1:76211482 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.120G>C (p.Glu40Asp) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003042856] Chr1:75732645 [GRCh38]
Chr1:76198330 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.65C>A (p.Ser22Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002875893] Chr1:75728435 [GRCh38]
Chr1:76194120 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.839C>G (p.Thr280Ser) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002801746] Chr1:75749549 [GRCh38]
Chr1:76215234 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1071A>G (p.Ala357=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002985497] Chr1:75761247 [GRCh38]
Chr1:76226932 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1189_1192del (p.Tyr397fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003042595] Chr1:75761362..75761365 [GRCh38]
Chr1:76227047..76227050 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.1197T>G (p.Ile399Met) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002890229] Chr1:75762694 [GRCh38]
Chr1:76228379 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.395C>A (p.Pro132His) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002890980] Chr1:75734798 [GRCh38]
Chr1:76200483 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.119-7C>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002580636] Chr1:75732637 [GRCh38]
Chr1:76198322 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.98C>G (p.Pro33Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003029946] Chr1:75728468 [GRCh38]
Chr1:76194153 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.643G>C (p.Ala215Pro) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002966386] Chr1:75745849 [GRCh38]
Chr1:76211534 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.775A>G (p.Lys259Glu) single nucleotide variant Inborn genetic diseases [RCV003091508]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003091509] Chr1:75749485 [GRCh38]
Chr1:76215170 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys) single nucleotide variant Inborn genetic diseases [RCV003071772]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003065785] Chr1:75728461 [GRCh38]
Chr1:76194146 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.498C>T (p.Gly166=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002675695] Chr1:75740009 [GRCh38]
Chr1:76205694 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.10G>A (p.Gly4Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002651355] Chr1:75724797 [GRCh38]
Chr1:76190482 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.31-13G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002576939] Chr1:75728388 [GRCh38]
Chr1:76194073 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.119-12A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002648160] Chr1:75732632 [GRCh38]
Chr1:76198317 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1194+23del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002629636] Chr1:75761387 [GRCh38]
Chr1:76227072 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.380C>A (p.Ser127Tyr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002832880] Chr1:75733621 [GRCh38]
Chr1:76199306 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1226_1227del (p.Leu409fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003027611] Chr1:75762723..75762724 [GRCh38]
Chr1:76228408..76228409 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.291T>C (p.Gly97=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002857099] Chr1:75733532 [GRCh38]
Chr1:76199217 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.468+3G>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002630264] Chr1:75734874 [GRCh38]
Chr1:76200559 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.850-10A>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002600472] Chr1:75750441 [GRCh38]
Chr1:76216126 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.553A>G (p.Ile185Val) single nucleotide variant Inborn genetic diseases [RCV002896738] Chr1:75740064 [GRCh38]
Chr1:76205749 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.286+6C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002647891] Chr1:75732928 [GRCh38]
Chr1:76198613 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.475del (p.Cys159fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002648162] Chr1:75739985 [GRCh38]
Chr1:76205670 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.493G>A (p.Ala165Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002648163] Chr1:75740004 [GRCh38]
Chr1:76205689 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.468+11G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002716581] Chr1:75734882 [GRCh38]
Chr1:76200567 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1253A>G (p.Lys418Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003060792] Chr1:75762750 [GRCh38]
Chr1:76228435 [GRCh37]
Chr1:1p31.1		 likely pathogenic|uncertain significance
NM_000016.6(ACADM):c.703A>T (p.Arg235Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002937576] Chr1:75745909 [GRCh38]
Chr1:76211594 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.891T>A (p.Asp297Glu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003064052] Chr1:75750492 [GRCh38]
Chr1:76216177 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.135G>C (p.Gln45His) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002834268] Chr1:75732660 [GRCh38]
Chr1:76198345 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.31-5T>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003063848] Chr1:75728396 [GRCh38]
Chr1:76194081 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.12G>A (p.Gly4=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003060161] Chr1:75724799 [GRCh38]
Chr1:76190484 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1117G>C (p.Val373Leu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003010019] Chr1:75761293 [GRCh38]
Chr1:76226978 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.31-17A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002966622] Chr1:75728384 [GRCh38]
Chr1:76194069 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.509C>A (p.Ala170Asp) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003026496] Chr1:75740020 [GRCh38]
Chr1:76205705 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.820A>G (p.Met274Val) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002938655] Chr1:75749530 [GRCh38]
Chr1:76215215 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.31-12T>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003065401] Chr1:75728389 [GRCh38]
Chr1:76194074 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.799G>T (p.Gly267Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002791998] Chr1:75749509 [GRCh38]
Chr1:76215194 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.893_898del (p.Glu298_Thr300delinsAla) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003064053] Chr1:75750494..75750499 [GRCh38]
Chr1:76216179..76216184 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1043G>A (p.Arg348His) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003065491] Chr1:75761219 [GRCh38]
Chr1:76226904 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.17G>A (p.Gly6Glu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002815101] Chr1:75724804 [GRCh38]
Chr1:76190489 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.469-8T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002725633] Chr1:75739972 [GRCh38]
Chr1:76205657 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.849+11T>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003069336] Chr1:75749570 [GRCh38]
Chr1:76215255 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.955A>G (p.Ile319Val) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002605284] Chr1:75761131 [GRCh38]
Chr1:76226816 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.31-12T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003052732] Chr1:75728389 [GRCh38]
Chr1:76194074 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1066A>G (p.Ile356Val) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003072665] Chr1:75761242 [GRCh38]
Chr1:76226927 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.1128T>C (p.Leu376=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002607087] Chr1:75761304 [GRCh38]
Chr1:76226989 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.983T>C (p.Met328Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002603336] Chr1:75761159 [GRCh38]
Chr1:76226844 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.653C>A (p.Ala218Asp) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002606306]|not provided [RCV003108148]|not specified [RCV003388155] Chr1:75745859 [GRCh38]
Chr1:76211544 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.352G>T (p.Gly118Trp) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002609879] Chr1:75733593 [GRCh38]
Chr1:76199278 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.*5delA deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002612035] Chr1:75762762 [GRCh38]
Chr1:76228447 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.558T>C (p.Asn186=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV002605508] Chr1:75740069 [GRCh38]
Chr1:76205754 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.124A>T (p.Thr42Ser) single nucleotide variant Inborn genetic diseases [RCV003181480] Chr1:75732649 [GRCh38]
Chr1:76198334 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1194+2T>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003143605] Chr1:75761372 [GRCh38]
Chr1:76227057 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.813A>C (p.Lys271Asn) single nucleotide variant ACADM-related condition [RCV003396919]|Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003139556] Chr1:75749523 [GRCh38]
Chr1:76215208 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.719T>C (p.Met240Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003139557] Chr1:75749429 [GRCh38]
Chr1:76215114 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.806G>A (p.Gly269Asp) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003139558] Chr1:75749516 [GRCh38]
Chr1:76215201 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.367A>G (p.Ile123Val) single nucleotide variant Inborn genetic diseases [RCV003309572] Chr1:75733608 [GRCh38]
Chr1:76199293 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.850-1G>A single nucleotide variant not provided [RCV003326109] Chr1:75750450 [GRCh38]
Chr1:76216135 [GRCh37]
Chr1:1p31.1		 not provided
NM_000016.6(ACADM):c.652G>A (p.Ala218Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003325625] Chr1:75745858 [GRCh38]
Chr1:76211543 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.826G>A (p.Ala276Thr) single nucleotide variant Inborn genetic diseases [RCV003381491] Chr1:75749536 [GRCh38]
Chr1:76215221 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.945+1G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003464983] Chr1:75750547 [GRCh38]
Chr1:76216232 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.217-1del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003464984] Chr1:75732852 [GRCh38]
Chr1:76198537 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.117del (p.Phe39fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003465006] Chr1:75728484 [GRCh38]
Chr1:76194169 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.1237del (p.Arg413fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003465018] Chr1:75762732 [GRCh38]
Chr1:76228417 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.608dup (p.Leu203fs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003465030] Chr1:75745808..75745809 [GRCh38]
Chr1:76211493..76211494 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.603T>A (p.Tyr201Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003474268] Chr1:75745809 [GRCh38]
Chr1:76211494 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.489T>C (p.Pro163=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003503731] Chr1:75740000 [GRCh38]
Chr1:76205685 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.382T>G (p.Leu128Val) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003503660] Chr1:75733623 [GRCh38]
Chr1:76199308 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.862del (p.Ala288fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003503509] Chr1:75750463 [GRCh38]
Chr1:76216148 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.520dup (p.Thr174fs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003503713] Chr1:75740030..75740031 [GRCh38]
Chr1:76205715..76205716 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.273dup (p.Pro92fs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003503726] Chr1:75732907..75732908 [GRCh38]
Chr1:76198592..76198593 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.469-9A>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003503689] Chr1:75739971 [GRCh38]
Chr1:76205656 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.567del (p.Met190fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003465013] Chr1:75740078 [GRCh38]
Chr1:76205763 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.474T>A (p.Tyr158Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003465021] Chr1:75739985 [GRCh38]
Chr1:76205670 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.2T>G (p.Met1Arg) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003504500] Chr1:75724789 [GRCh38]
Chr1:76190474 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.166G>C (p.Ala56Pro) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003504501] Chr1:75732691 [GRCh38]
Chr1:76198376 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.708+15A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003504006] Chr1:75745929 [GRCh38]
Chr1:76211614 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1017A>G (p.Arg339=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003504253] Chr1:75761193 [GRCh38]
Chr1:76226878 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1250_1253delinsCT (p.Asp417fs) indel Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003464947] Chr1:75762747..75762750 [GRCh38]
Chr1:76228432..76228435 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.217-16G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003504447] Chr1:75732837 [GRCh38]
Chr1:76198522 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.118+11G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003874611] Chr1:75728499 [GRCh38]
Chr1:76194184 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.708+19A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003502925] Chr1:75745933 [GRCh38]
Chr1:76211618 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.81C>T (p.Ala27=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003503649] Chr1:75728451 [GRCh38]
Chr1:76194136 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.119-7C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003503131] Chr1:75732637 [GRCh38]
Chr1:76198322 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.245G>A (p.Trp82Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003474244] Chr1:75732881 [GRCh38]
Chr1:76198566 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.890A>G (p.Asp297Gly) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003474284] Chr1:75750491 [GRCh38]
Chr1:76216176 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.309del (p.Phe103fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003503598] Chr1:75733547 [GRCh38]
Chr1:76199232 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.709-2A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003474280] Chr1:75749417 [GRCh38]
Chr1:76215102 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.947A>T (p.His316Leu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003447791] Chr1:75761123 [GRCh38]
Chr1:76226808 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1228_1230del (p.Ile410del) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003502809] Chr1:75762723..75762725 [GRCh38]
Chr1:76228408..76228410 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.498C>G (p.Gly166=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003502787] Chr1:75740009 [GRCh38]
Chr1:76205694 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1097del (p.Asn366fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003474330] Chr1:75761271 [GRCh38]
Chr1:76226956 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.1040G>T (p.Gly347Val) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003474298] Chr1:75761216 [GRCh38]
Chr1:76226901 [GRCh37]
Chr1:1p31.1		 pathogenic|likely pathogenic
GRCh37/hg19 1p31.1(chr1:75958717-76641372)x1 copy number loss not provided [RCV003483172] Chr1:75958717..76641372 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1237C>A (p.Arg413Ser) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003464989] Chr1:75762734 [GRCh38]
Chr1:76228419 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.286+190T>C single nucleotide variant not provided [RCV003406560] Chr1:75733112 [GRCh38]
Chr1:76198797 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.387+2T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003474299] Chr1:75733630 [GRCh38]
Chr1:76199315 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.830_831dup (p.Asp278fs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003465044] Chr1:75749537..75749538 [GRCh38]
Chr1:76215222..76215223 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.205A>T (p.Lys69Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003474321] Chr1:75732730 [GRCh38]
Chr1:76198415 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.387+2T>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003466670] Chr1:75733630 [GRCh38]
Chr1:76199315 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.1018G>A (p.Ala340Thr) single nucleotide variant ACADM-related condition [RCV003419085] Chr1:75761194 [GRCh38]
Chr1:76226879 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.308T>A (p.Phe103Tyr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003464929] Chr1:75733549 [GRCh38]
Chr1:76199234 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.270_271dup (p.Ile91fs) microsatellite Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003464975] Chr1:75732898..75732899 [GRCh38]
Chr1:76198583..76198584 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.1250_1256del (p.Asp417fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003464979] Chr1:75762747..75762753 [GRCh38]
Chr1:76228432..76228438 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.865G>A (p.Val289Ile) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003464994] Chr1:75750466 [GRCh38]
Chr1:76216151 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.739A>T (p.Thr247Ser) single nucleotide variant ACADM-related condition [RCV003400381] Chr1:75749449 [GRCh38]
Chr1:76215134 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.599+17A>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003849231] Chr1:75740127 [GRCh38]
Chr1:76205812 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1194+16A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003849016] Chr1:75761386 [GRCh38]
Chr1:76227071 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.469-16T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609956] Chr1:75739964 [GRCh38]
Chr1:76205649 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.693T>C (p.Ile231=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610225] Chr1:75745899 [GRCh38]
Chr1:76211584 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.849+13G>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609463] Chr1:75749572 [GRCh38]
Chr1:76215257 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.850-19T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609906] Chr1:75750432 [GRCh38]
Chr1:76216117 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.709-13A>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609861] Chr1:75749406 [GRCh38]
Chr1:76215091 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.972T>A (p.Ala324=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609863] Chr1:75761148 [GRCh38]
Chr1:76226833 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.600-12T>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003608797] Chr1:75745794 [GRCh38]
Chr1:76211479 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.119-5C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609692] Chr1:75732639 [GRCh38]
Chr1:76198324 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.946-14C>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609316] Chr1:75761108 [GRCh38]
Chr1:76226793 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.468+20G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609984] Chr1:75734891 [GRCh38]
Chr1:76200576 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.307T>C (p.Phe103Leu) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610243] Chr1:75733548 [GRCh38]
Chr1:76199233 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.331G>T (p.Glu111Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610249] Chr1:75733572 [GRCh38]
Chr1:76199257 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.849+14_849+15insCCAT insertion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609859] Chr1:75749573..75749574 [GRCh38]
Chr1:76215258..76215259 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.850-15A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609998] Chr1:75750436 [GRCh38]
Chr1:76216121 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.408T>C (p.Ala136=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610297] Chr1:75734811 [GRCh38]
Chr1:76200496 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.417T>C (p.Asp139=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609609] Chr1:75734820 [GRCh38]
Chr1:76200505 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.900C>G (p.Thr300=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609894] Chr1:75750501 [GRCh38]
Chr1:76216186 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.469-2A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610044] Chr1:75739978 [GRCh38]
Chr1:76205663 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.709-19A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609997] Chr1:75749400 [GRCh38]
Chr1:76215085 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.738T>C (p.Asp246=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610303] Chr1:75749448 [GRCh38]
Chr1:76215133 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.217-12T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609905] Chr1:75732841 [GRCh38]
Chr1:76198526 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.702G>T (p.Gly234=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003878770] Chr1:75745908 [GRCh38]
Chr1:76211593 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1194+19T>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609305] Chr1:75761389 [GRCh38]
Chr1:76227074 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.530A>G (p.Glu177Gly) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609334] Chr1:75740041 [GRCh38]
Chr1:76205726 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.1137T>C (p.Asn379=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609336] Chr1:75761313 [GRCh38]
Chr1:76226998 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.945+13C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609996] Chr1:75750559 [GRCh38]
Chr1:76216244 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.469-19T>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609365] Chr1:75739961 [GRCh38]
Chr1:76205646 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1188C>G (p.Ile396Met) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609925] Chr1:75761364 [GRCh38]
Chr1:76227049 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.65C>G (p.Ser22Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609060] Chr1:75728435 [GRCh38]
Chr1:76194120 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.1197T>C (p.Ile399=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003608681] Chr1:75762694 [GRCh38]
Chr1:76228379 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.849+13G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003825423] Chr1:75749572 [GRCh38]
Chr1:76215257 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.54T>C (p.Phe18=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003608806] Chr1:75728424 [GRCh38]
Chr1:76194109 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.946-14_946-12del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609008] Chr1:75761106..75761108 [GRCh38]
Chr1:76226791..76226793 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.946-6T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609015] Chr1:75761116 [GRCh38]
Chr1:76226801 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1186dup (p.Ile396fs) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003608975] Chr1:75761358..75761359 [GRCh38]
Chr1:76227043..76227044 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.946-13T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609735] Chr1:75761109 [GRCh38]
Chr1:76226794 [GRCh37]
Chr1:1p31.1		 likely benign
NC_000001.11:g.75745798_75745814TC[2]TTAGGTATTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTCTCTTAGGTATTTTTT[1] microsatellite Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003608750] Chr1:75745797..75745798 [GRCh38]
Chr1:76211482..76211483 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.849+9T>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609466] Chr1:75749568 [GRCh38]
Chr1:76215253 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.573G>A (p.Trp191Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003608835] Chr1:75740084 [GRCh38]
Chr1:76205769 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.1194+17T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609507] Chr1:75761387 [GRCh38]
Chr1:76227072 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.849+12G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609540] Chr1:75749571 [GRCh38]
Chr1:76215256 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.217-13C>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003608892] Chr1:75732840 [GRCh38]
Chr1:76198525 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.160A>C (p.Lys54Gln) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609308] Chr1:75732685 [GRCh38]
Chr1:76198370 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.681T>C (p.Asp227=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609563] Chr1:75745887 [GRCh38]
Chr1:76211572 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1023T>C (p.Ala341=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609343] Chr1:75761199 [GRCh38]
Chr1:76226884 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.387+11T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609405] Chr1:75733639 [GRCh38]
Chr1:76199324 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1194+23dup duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609660] Chr1:75761386..75761387 [GRCh38]
Chr1:76227071..76227072 [GRCh37]
Chr1:1p31.1		 benign
NM_000016.6(ACADM):c.1049_1055dup (p.Tyr352Ter) duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003609089] Chr1:75761223..75761224 [GRCh38]
Chr1:76226908..76226909 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.31-19A>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003608708] Chr1:75728382 [GRCh38]
Chr1:76194067 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1117G>A (p.Val373Met) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610329] Chr1:75761293 [GRCh38]
Chr1:76226978 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.850-6T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003832178] Chr1:75750445 [GRCh38]
Chr1:76216130 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.30+18G>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610603] Chr1:75724835 [GRCh38]
Chr1:76190520 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.30+11G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610744] Chr1:75724828 [GRCh38]
Chr1:76190513 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.404T>C (p.Ile135Thr) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610789] Chr1:75734807 [GRCh38]
Chr1:76200492 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.599+16C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610980] Chr1:75740126 [GRCh38]
Chr1:76205811 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.946-10T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610963] Chr1:75761112 [GRCh38]
Chr1:76226797 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.849+14G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610967] Chr1:75749573 [GRCh38]
Chr1:76215258 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.30+5G>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610856] Chr1:75724822 [GRCh38]
Chr1:76190507 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1194+13A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610368] Chr1:75761383 [GRCh38]
Chr1:76227068 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.130C>T (p.Gln44Ter) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610327] Chr1:75732655 [GRCh38]
Chr1:76198340 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.30+18G>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003502180] Chr1:75724835 [GRCh38]
Chr1:76190520 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1203_1224del (p.Glu401fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610494] Chr1:75762698..75762719 [GRCh38]
Chr1:76228383..76228404 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.599+11C>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610506] Chr1:75740121 [GRCh38]
Chr1:76205806 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.469-6T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610522] Chr1:75739974 [GRCh38]
Chr1:76205659 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.987A>G (p.Lys329=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610582] Chr1:75761163 [GRCh38]
Chr1:76226848 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.217-12T>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610679] Chr1:75732841 [GRCh38]
Chr1:76198526 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.216+19A>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610708] Chr1:75732760 [GRCh38]
Chr1:76198445 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.762T>C (p.Asp254=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610739] Chr1:75749472 [GRCh38]
Chr1:76215157 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.83A>G (p.Asn28Ser) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610788] Chr1:75728453 [GRCh38]
Chr1:76194138 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.1195-21_1195-11del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610798] Chr1:75762670..75762680 [GRCh38]
Chr1:76228355..76228365 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1161A>T (p.Val387=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003502096] Chr1:75761337 [GRCh38]
Chr1:76227022 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.945+18dup duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610560] Chr1:75750562..75750563 [GRCh38]
Chr1:76216247..76216248 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.331G>A (p.Glu111Lys) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610615] Chr1:75733572 [GRCh38]
Chr1:76199257 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.216+13A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610678] Chr1:75732754 [GRCh38]
Chr1:76198439 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.709-18T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610853] Chr1:75749401 [GRCh38]
Chr1:76215086 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.918G>A (p.Arg306=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610858] Chr1:75750519 [GRCh38]
Chr1:76216204 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.708+11_708+14del microsatellite Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610801] Chr1:75745921..75745924 [GRCh38]
Chr1:76211606..76211609 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.30+14C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610839] Chr1:75724831 [GRCh38]
Chr1:76190516 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.388-19T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610948] Chr1:75734772 [GRCh38]
Chr1:76200457 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1167del (p.Lys389fs) deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003502377] Chr1:75761339 [GRCh38]
Chr1:76227024 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.954A>G (p.Ala318=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610353] Chr1:75761130 [GRCh38]
Chr1:76226815 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.469-19_469-18del deletion Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003502075] Chr1:75739961..75739962 [GRCh38]
Chr1:76205646..76205647 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1177G>A (p.Asp393Asn) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610365] Chr1:75761353 [GRCh38]
Chr1:76227038 [GRCh37]
Chr1:1p31.1		 likely pathogenic
NM_000016.6(ACADM):c.753C>A (p.Val251=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610371] Chr1:75749463 [GRCh38]
Chr1:76215148 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1195-17T>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003502123] Chr1:75762675 [GRCh38]
Chr1:76228360 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.101G>T (p.Gly34Val) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003816415] Chr1:75728471 [GRCh38]
Chr1:76194156 [GRCh37]
Chr1:1p31.1		 uncertain significance
NM_000016.6(ACADM):c.287-12T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610390] Chr1:75733516 [GRCh38]
Chr1:76199201 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.216+1G>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003610430] Chr1:75732742 [GRCh38]
Chr1:76198427 [GRCh37]
Chr1:1p31.1		 pathogenic
NM_000016.6(ACADM):c.850-16_850-8dup duplication Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003502231] Chr1:75750432..75750433 [GRCh38]
Chr1:76216117..76216118 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1195-15A>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003847628] Chr1:75762677 [GRCh38]
Chr1:76228362 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.712T>C (p.Leu238=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003862100] Chr1:75749422 [GRCh38]
Chr1:76215107 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.217-8T>C single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003841191] Chr1:75732845 [GRCh38]
Chr1:76198530 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1195-14T>A single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003871600] Chr1:75762678 [GRCh38]
Chr1:76228363 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.469-20C>T single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003864918] Chr1:75739960 [GRCh38]
Chr1:76205645 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.217-4C>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003859622] Chr1:75732849 [GRCh38]
Chr1:76198534 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.945+20C>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003871648] Chr1:75750566 [GRCh38]
Chr1:76216251 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.1029G>A (p.Glu343=) single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003859274] Chr1:75761205 [GRCh38]
Chr1:76226890 [GRCh37]
Chr1:1p31.1		 likely benign
NM_000016.6(ACADM):c.945+11T>G single nucleotide variant Medium-chain acyl-coenzyme A dehydrogenase deficiency [RCV003858496] Chr1:75750557 [GRCh38]
Chr1:76216242 [GRCh37]
Chr1:1p31.1		 likely benign
GRCh37/hg19 1p31.1-22.3(chr1:73616197-87012961)x1 copy number loss not provided [RCV003885448] Chr1:73616197..87012961 [GRCh37]
Chr1:1p31.1-22.3		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3366
Count of miRNA genes:944
Interacting mature miRNAs:1080
Transcripts:ENST00000370834, ENST00000370841, ENST00000420607, ENST00000473018, ENST00000481374, ENST00000525808, ENST00000525881, ENST00000526129, ENST00000526196, ENST00000526930, ENST00000528016, ENST00000529059, ENST00000530953, ENST00000532207, ENST00000532509, ENST00000534146, ENST00000534334, ENST00000541113, ENST00000543667
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH17668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37176,228,926 - 76,229,100UniSTSGRCh37
Build 36176,001,514 - 76,001,688RGDNCBI36
Celera174,468,843 - 74,469,017RGD
Cytogenetic Map1p31UniSTS
HuRef174,358,767 - 74,358,941UniSTS
GeneMap99-GB4 RH Map1205.3UniSTS
GDB:375715  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37176,226,822 - 76,227,020UniSTSGRCh37
Build 36175,999,410 - 75,999,608RGDNCBI36
Celera174,466,738 - 74,466,936RGD
Cytogenetic Map1p31UniSTS
HuRef174,356,663 - 74,356,861UniSTS
GDB:631816  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37176,198,329 - 76,198,571UniSTSGRCh37
Build 36175,970,917 - 75,971,159RGDNCBI36
Celera174,438,216 - 74,438,458RGD
Cytogenetic Map1p31UniSTS
HuRef174,328,261 - 74,328,503UniSTS
GDB:631822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37176,200,476 - 76,200,556UniSTSGRCh37
Build 36175,973,064 - 75,973,144RGDNCBI36
Celera174,440,363 - 74,440,443RGD
Cytogenetic Map1p31UniSTS
HuRef174,330,407 - 74,330,487UniSTS
GDB:631826  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37176,215,104 - 76,215,244UniSTSGRCh37
Build 36175,987,692 - 75,987,832RGDNCBI36
Celera174,455,013 - 74,455,153RGD
Cytogenetic Map1p31UniSTS
HuRef174,345,042 - 74,345,182UniSTS
GDB:631830  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37176,226,807 - 76,227,055UniSTSGRCh37
Build 36175,999,395 - 75,999,643RGDNCBI36
Celera174,466,723 - 74,466,971RGD
Cytogenetic Map1p31UniSTS
HuRef174,356,648 - 74,356,896UniSTS
SHGC-132084  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37176,228,612 - 76,228,932UniSTSGRCh37
Build 36176,001,200 - 76,001,520RGDNCBI36
Celera174,468,529 - 74,468,849RGD
Cytogenetic Map1p31UniSTS
HuRef174,358,453 - 74,358,773UniSTS
TNG Radiation Hybrid Map141325.0UniSTS
PMC162151P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37176,209,820 - 76,209,961UniSTSGRCh37
GRCh371475,359,595 - 75,360,098UniSTSGRCh37
Build 36175,982,408 - 75,982,549RGDNCBI36
Celera174,449,726 - 74,449,867RGD
Celera1455,397,968 - 55,398,471UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map14q24.3UniSTS
HuRef174,339,756 - 74,339,897UniSTS
HuRef1455,527,597 - 55,528,100UniSTS
PMC162151P4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37176,209,824 - 76,209,961UniSTSGRCh37
GRCh371475,359,595 - 75,360,094UniSTSGRCh37
Build 36175,982,412 - 75,982,549RGDNCBI36
Celera174,449,730 - 74,449,867RGD
Celera1455,397,968 - 55,398,467UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map14q24.3UniSTS
HuRef174,339,760 - 74,339,897UniSTS
HuRef1455,527,597 - 55,528,096UniSTS
ACADM__2214  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37176,228,398 - 76,229,183UniSTSGRCh37
Build 36176,000,986 - 76,001,771RGDNCBI36
Celera174,468,315 - 74,469,100RGD
HuRef174,358,239 - 74,359,024UniSTS
D1S2386  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37176,228,767 - 76,229,110UniSTSGRCh37
Build 36176,001,355 - 76,001,698RGDNCBI36
Celera174,468,684 - 74,469,027RGD
Cytogenetic Map1p31UniSTS
HuRef174,358,608 - 74,358,951UniSTS
GeneMap99-GB4 RH Map1193.62UniSTS
Whitehead-RH Map1219.2UniSTS
Whitehead-YAC Contig Map1 UniSTS
GeneMap99-G3 RH Map14234.0UniSTS
D17S2133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37176,214,459 - 76,214,672UniSTSGRCh37
Build 36175,987,047 - 75,987,260RGDNCBI36
Celera174,454,367 - 74,454,581RGD
Cytogenetic Map1p31UniSTS
HuRef174,344,397 - 74,344,610UniSTS
MARC_2710-2711:991933212:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37176,209,360 - 76,209,469UniSTSGRCh37
Build 36175,981,948 - 75,982,057RGDNCBI36
Celera174,449,266 - 74,449,375RGD
HuRef174,339,296 - 74,339,405UniSTS
ACADM  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37176,198,562 - 76,199,280UniSTSGRCh37
Celera174,438,449 - 74,439,167UniSTS
HuRef174,328,494 - 74,329,212UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2388 2177 1715 619 1213 460 4048 2116 3577 401 1426 1562 175 1 1203 2614 5 2
Low 48 797 11 5 721 5 309 81 157 17 34 51 1 174 1
Below cutoff 1 17 17 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF251043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL357314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI789086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB055575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB453314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB537134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177876 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU177878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M16827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S61977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U33947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000370834   ⟹   ENSP00000359871
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,709 - 75,763,491 (+)Ensembl
RefSeq Acc Id: ENST00000370841   ⟹   ENSP00000359878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,709 - 75,763,679 (+)Ensembl
RefSeq Acc Id: ENST00000420607   ⟹   ENSP00000409612
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,780 - 75,762,809 (+)Ensembl
RefSeq Acc Id: ENST00000473018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,640 (+)Ensembl
RefSeq Acc Id: ENST00000481374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,750,451 - 75,763,491 (+)Ensembl
RefSeq Acc Id: ENST00000525808   ⟹   ENSP00000434823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,767 - 75,763,168 (+)Ensembl
RefSeq Acc Id: ENST00000525881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,735,094 (+)Ensembl
RefSeq Acc Id: ENST00000526129   ⟹   ENSP00000434092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,706 - 75,761,615 (+)Ensembl
RefSeq Acc Id: ENST00000526196   ⟹   ENSP00000431953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,706 - 75,762,954 (+)Ensembl
RefSeq Acc Id: ENST00000526930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,734,631 - 75,749,518 (+)Ensembl
RefSeq Acc Id: ENST00000528016   ⟹   ENSP00000434284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,749,497 - 75,787,575 (+)Ensembl
RefSeq Acc Id: ENST00000529059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,732,516 - 75,762,945 (+)Ensembl
RefSeq Acc Id: ENST00000530953   ⟹   ENSP00000431372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,761 - 75,749,541 (+)Ensembl
RefSeq Acc Id: ENST00000532207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,744,318 - 75,763,483 (+)Ensembl
RefSeq Acc Id: ENST00000532509   ⟹   ENSP00000432522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,709 - 75,749,554 (+)Ensembl
RefSeq Acc Id: ENST00000534146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,709 - 75,733,339 (+)Ensembl
RefSeq Acc Id: ENST00000534334   ⟹   ENSP00000435584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,767 - 75,761,248 (+)Ensembl
RefSeq Acc Id: ENST00000541113   ⟹   ENSP00000442324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,596 (+)Ensembl
RefSeq Acc Id: ENST00000679509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,401 (+)Ensembl
RefSeq Acc Id: ENST00000679530   ⟹   ENSP00000506454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,720 (+)Ensembl
RefSeq Acc Id: ENST00000679615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,483 (+)Ensembl
RefSeq Acc Id: ENST00000679687   ⟹   ENSP00000506598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,761 - 75,763,596 (+)Ensembl
RefSeq Acc Id: ENST00000679704   ⟹   ENSP00000505117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,767 - 75,763,596 (+)Ensembl
RefSeq Acc Id: ENST00000679709   ⟹   ENSP00000506623
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,709 - 75,763,720 (+)Ensembl
RefSeq Acc Id: ENST00000679804
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,779 - 75,740,672 (+)Ensembl
RefSeq Acc Id: ENST00000679976   ⟹   ENSP00000505565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,596 (+)Ensembl
RefSeq Acc Id: ENST00000680166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,726,849 - 75,763,640 (+)Ensembl
RefSeq Acc Id: ENST00000680315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,749,719 - 75,762,624 (+)Ensembl
RefSeq Acc Id: ENST00000680517   ⟹   ENSP00000505803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,762,719 (+)Ensembl
RefSeq Acc Id: ENST00000680582
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,720 (+)Ensembl
RefSeq Acc Id: ENST00000680613   ⟹   ENSP00000506114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,596 (+)Ensembl
RefSeq Acc Id: ENST00000680662   ⟹   ENSP00000505080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,767 - 75,763,720 (+)Ensembl
RefSeq Acc Id: ENST00000680691   ⟹   ENSP00000506487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,596 (+)Ensembl
RefSeq Acc Id: ENST00000680694   ⟹   ENSP00000505658
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,630 (+)Ensembl
RefSeq Acc Id: ENST00000680743   ⟹   ENSP00000505073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,698 - 75,763,596 (+)Ensembl
RefSeq Acc Id: ENST00000680749   ⟹   ENSP00000505122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,596 (+)Ensembl
RefSeq Acc Id: ENST00000680798   ⟹   ENSP00000505670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,361 (+)Ensembl
RefSeq Acc Id: ENST00000680805   ⟹   ENSP00000505447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,596 (+)Ensembl
RefSeq Acc Id: ENST00000680844   ⟹   ENSP00000506541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,709 - 75,763,401 (+)Ensembl
RefSeq Acc Id: ENST00000680948   ⟹   ENSP00000505441
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,703 - 75,763,720 (+)Ensembl
RefSeq Acc Id: ENST00000680964   ⟹   ENSP00000505961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,486 (+)Ensembl
RefSeq Acc Id: ENST00000681037   ⟹   ENSP00000506025
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,596 (+)Ensembl
RefSeq Acc Id: ENST00000681063   ⟹   ENSP00000506616
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,596 (+)Ensembl
RefSeq Acc Id: ENST00000681209   ⟹   ENSP00000505877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,596 (+)Ensembl
RefSeq Acc Id: ENST00000681278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,596 (+)Ensembl
RefSeq Acc Id: ENST00000681289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,596 (+)Ensembl
RefSeq Acc Id: ENST00000681361   ⟹   ENSP00000506679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,598 - 75,763,401 (+)Ensembl
RefSeq Acc Id: ENST00000681430   ⟹   ENSP00000506301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,596 (+)Ensembl
RefSeq Acc Id: ENST00000681446   ⟹   ENSP00000506244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,483 (+)Ensembl
RefSeq Acc Id: ENST00000681450   ⟹   ENSP00000505660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,761 - 75,763,596 (+)Ensembl
RefSeq Acc Id: ENST00000681548   ⟹   ENSP00000505275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,758 - 75,763,401 (+)Ensembl
RefSeq Acc Id: ENST00000681616   ⟹   ENSP00000505111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,699 - 75,763,483 (+)Ensembl
RefSeq Acc Id: ENST00000681621   ⟹   ENSP00000505770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,401 (+)Ensembl
RefSeq Acc Id: ENST00000681680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,475 (+)Ensembl
RefSeq Acc Id: ENST00000681720   ⟹   ENSP00000505438
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,728 - 75,763,596 (+)Ensembl
RefSeq Acc Id: ENST00000681730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,731,503 - 75,763,720 (+)Ensembl
RefSeq Acc Id: ENST00000681790   ⟹   ENSP00000505130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,629 - 75,763,720 (+)Ensembl
RefSeq Acc Id: ENST00000681837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,689 - 75,763,401 (+)Ensembl
RefSeq Acc Id: ENST00000681913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,596 (+)Ensembl
RefSeq Acc Id: ENST00000681916   ⟹   ENSP00000506477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,703 - 75,763,720 (+)Ensembl
RefSeq Acc Id: ENST00000681930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl175,724,431 - 75,763,401 (+)Ensembl
RefSeq Acc Id: NM_000016   ⟹   NP_000007
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,724,709 - 75,763,679 (+)NCBI
GRCh37176,190,043 - 76,229,355 (+)ENTREZGENE
GRCh37176,190,043 - 76,229,355 (+)NCBI
Build 36175,962,870 - 76,001,771 (+)NCBI Archive
HuRef174,319,963 - 74,359,205 (+)NCBI
CHM1_1176,305,387 - 76,344,699 (+)NCBI
T2T-CHM13v2.0175,561,369 - 75,600,339 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001127328   ⟹   NP_001120800
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,724,709 - 75,763,679 (+)NCBI
GRCh37176,190,043 - 76,229,355 (+)NCBI
HuRef174,319,963 - 74,359,205 (+)NCBI
CHM1_1176,305,387 - 76,344,699 (+)NCBI
T2T-CHM13v2.0175,561,369 - 75,600,339 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286042   ⟹   NP_001272971
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,724,709 - 75,763,679 (+)NCBI
HuRef174,319,963 - 74,359,205 (+)NCBI
CHM1_1176,305,387 - 76,344,699 (+)NCBI
T2T-CHM13v2.0175,561,369 - 75,600,339 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286043   ⟹   NP_001272972
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,724,709 - 75,763,679 (+)NCBI
HuRef174,319,963 - 74,359,205 (+)NCBI
CHM1_1176,305,387 - 76,344,699 (+)NCBI
T2T-CHM13v2.0175,561,369 - 75,600,339 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286044   ⟹   NP_001272973
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,724,709 - 75,763,679 (+)NCBI
HuRef174,319,963 - 74,359,205 (+)NCBI
CHM1_1176,305,387 - 76,344,699 (+)NCBI
T2T-CHM13v2.0175,561,369 - 75,600,339 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000007 (Get FASTA)   NCBI Sequence Viewer  
  NP_001120800 (Get FASTA)   NCBI Sequence Viewer  
  NP_001272971 (Get FASTA)   NCBI Sequence Viewer  
  NP_001272972 (Get FASTA)   NCBI Sequence Viewer  
  NP_001272973 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51566 (Get FASTA)   NCBI Sequence Viewer  
  AAA59567 (Get FASTA)   NCBI Sequence Viewer  
  AAB59625 (Get FASTA)   NCBI Sequence Viewer  
  AAF63626 (Get FASTA)   NCBI Sequence Viewer  
  AAH05377 (Get FASTA)   NCBI Sequence Viewer  
  AEE60920 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33334 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33335 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33336 (Get FASTA)   NCBI Sequence Viewer  
  BAG35514 (Get FASTA)   NCBI Sequence Viewer  
  BAG58809 (Get FASTA)   NCBI Sequence Viewer  
  BAG62623 (Get FASTA)   NCBI Sequence Viewer  
  BAG62652 (Get FASTA)   NCBI Sequence Viewer  
  BAG63188 (Get FASTA)   NCBI Sequence Viewer  
  BAH14317 (Get FASTA)   NCBI Sequence Viewer  
  CAI45986 (Get FASTA)   NCBI Sequence Viewer  
  EAX06399 (Get FASTA)   NCBI Sequence Viewer  
  EAX06400 (Get FASTA)   NCBI Sequence Viewer  
  EAX06401 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000359871
  ENSP00000359871.5
  ENSP00000359878
  ENSP00000359878.5
  ENSP00000409612
  ENSP00000409612.2
  ENSP00000431372.1
  ENSP00000431953.1
  ENSP00000432522.1
  ENSP00000434092.1
  ENSP00000434284.1
  ENSP00000434823.1
  ENSP00000435584.1
  ENSP00000442324.2
  ENSP00000505073.1
  ENSP00000505080.1
  ENSP00000505111.1
  ENSP00000505117.1
  ENSP00000505122.1
  ENSP00000505130
  ENSP00000505130.1
  ENSP00000505275.1
  ENSP00000505438.1
  ENSP00000505441.1
  ENSP00000505447.1
  ENSP00000505565.1
  ENSP00000505658.1
  ENSP00000505660.1
  ENSP00000505670.1
  ENSP00000505770.1
  ENSP00000505803.1
  ENSP00000505877.1
  ENSP00000505961.1
  ENSP00000506025.1
  ENSP00000506114.1
  ENSP00000506244.1
  ENSP00000506301.1
  ENSP00000506454.1
  ENSP00000506477.1
  ENSP00000506487.1
  ENSP00000506541.1
  ENSP00000506598
  ENSP00000506598.1
  ENSP00000506616.1
  ENSP00000506623.1
  ENSP00000506679.1
GenBank Protein P11310 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001120800   ⟸   NM_001127328
- Peptide Label: isoform b precursor
- UniProtKB: F6YB23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000007   ⟸   NM_000016
- Peptide Label: isoform a precursor
- UniProtKB: Q5T4U4 (UniProtKB/Swiss-Prot),   Q9NYF1 (UniProtKB/Swiss-Prot),   P11310 (UniProtKB/Swiss-Prot),   A0A0S2Z366 (UniProtKB/TrEMBL),   F6YB23 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001272972   ⟸   NM_001286043
- Peptide Label: isoform d precursor
- UniProtKB: Q5HYG7 (UniProtKB/TrEMBL),   Q5T4U5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001272971   ⟸   NM_001286042
- Peptide Label: isoform c
- UniProtKB: B7Z9I1 (UniProtKB/TrEMBL),   B4DWX6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001272973   ⟸   NM_001286044
- Peptide Label: isoform e
- UniProtKB: B4DJE7 (UniProtKB/TrEMBL),   A0A7P0TB55 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000442324   ⟸   ENST00000541113
RefSeq Acc Id: ENSP00000359878   ⟸   ENST00000370841
RefSeq Acc Id: ENSP00000359871   ⟸   ENST00000370834
RefSeq Acc Id: ENSP00000431372   ⟸   ENST00000530953
RefSeq Acc Id: ENSP00000432522   ⟸   ENST00000532509
RefSeq Acc Id: ENSP00000435584   ⟸   ENST00000534334
RefSeq Acc Id: ENSP00000434823   ⟸   ENST00000525808
RefSeq Acc Id: ENSP00000431953   ⟸   ENST00000526196
RefSeq Acc Id: ENSP00000434092   ⟸   ENST00000526129
RefSeq Acc Id: ENSP00000409612   ⟸   ENST00000420607
RefSeq Acc Id: ENSP00000434284   ⟸   ENST00000528016
RefSeq Acc Id: ENSP00000505438   ⟸   ENST00000681720
RefSeq Acc Id: ENSP00000506244   ⟸   ENST00000681446
RefSeq Acc Id: ENSP00000506623   ⟸   ENST00000679709
RefSeq Acc Id: ENSP00000505073   ⟸   ENST00000680743
RefSeq Acc Id: ENSP00000505080   ⟸   ENST00000680662
RefSeq Acc Id: ENSP00000505660   ⟸   ENST00000681450
RefSeq Acc Id: ENSP00000506487   ⟸   ENST00000680691
RefSeq Acc Id: ENSP00000505565   ⟸   ENST00000679976
RefSeq Acc Id: ENSP00000505447   ⟸   ENST00000680805
RefSeq Acc Id: ENSP00000505275   ⟸   ENST00000681548
RefSeq Acc Id: ENSP00000505111   ⟸   ENST00000681616
RefSeq Acc Id: ENSP00000506598   ⟸   ENST00000679687
RefSeq Acc Id: ENSP00000506616   ⟸   ENST00000681063
RefSeq Acc Id: ENSP00000506114   ⟸   ENST00000680613
RefSeq Acc Id: ENSP00000506541   ⟸   ENST00000680844
RefSeq Acc Id: ENSP00000505122   ⟸   ENST00000680749
RefSeq Acc Id: ENSP00000506025   ⟸   ENST00000681037
RefSeq Acc Id: ENSP00000505670   ⟸   ENST00000680798
RefSeq Acc Id: ENSP00000505658   ⟸   ENST00000680694
RefSeq Acc Id: ENSP00000505441   ⟸   ENST00000680948
RefSeq Acc Id: ENSP00000506679   ⟸   ENST00000681361
RefSeq Acc Id: ENSP00000505130   ⟸   ENST00000681790
RefSeq Acc Id: ENSP00000505877   ⟸   ENST00000681209
RefSeq Acc Id: ENSP00000506454   ⟸   ENST00000679530
RefSeq Acc Id: ENSP00000505961   ⟸   ENST00000680964
RefSeq Acc Id: ENSP00000506477   ⟸   ENST00000681916
RefSeq Acc Id: ENSP00000505803   ⟸   ENST00000680517
RefSeq Acc Id: ENSP00000505117   ⟸   ENST00000679704
RefSeq Acc Id: ENSP00000505770   ⟸   ENST00000681621
RefSeq Acc Id: ENSP00000506301   ⟸   ENST00000681430
Protein Domains
Acyl-CoA dehydrogenase/oxidase C-terminal   Acyl-CoA dehydrogenase/oxidase N-terminal   Acyl-CoA oxidase/dehydrogenase middle

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P11310-F1-model_v2 AlphaFold P11310 1-421 view protein structure

Promoters
RGD ID:6855920
Promoter ID:EPDNEW_H1125
Type:initiation region
Name:ACADM_2
Description:acyl-CoA dehydrogenase, C-4 to C-12 straight chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1126  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,724,431 - 75,724,491EPDNEW
RGD ID:6855922
Promoter ID:EPDNEW_H1126
Type:initiation region
Name:ACADM_1
Description:acyl-CoA dehydrogenase, C-4 to C-12 straight chain
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1125  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38175,724,709 - 75,724,769EPDNEW
RGD ID:6786668
Promoter ID:HG_KWN:3292
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001127328,   OTTHUMT00000026967,   OTTHUMT00000092545,   UC009WBQ.1,   UC009WBR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36175,962,719 - 75,963,219 (-)MPROMDB
RGD ID:6784539
Promoter ID:HG_KWN:3293
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC001DGX.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36175,964,201 - 75,965,112 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:89 AgrOrtholog
COSMIC ACADM COSMIC
Ensembl Genes ENSG00000117054 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000370834 ENTREZGENE
  ENST00000370834.9 UniProtKB/TrEMBL
  ENST00000370841 ENTREZGENE
  ENST00000370841.9 UniProtKB/Swiss-Prot
  ENST00000420607 ENTREZGENE
  ENST00000420607.6 UniProtKB/Swiss-Prot
  ENST00000525808.5 UniProtKB/TrEMBL
  ENST00000526129.5 UniProtKB/TrEMBL
  ENST00000526196.5 UniProtKB/TrEMBL
  ENST00000528016.1 UniProtKB/TrEMBL
  ENST00000530953.6 UniProtKB/TrEMBL
  ENST00000532509.5 UniProtKB/TrEMBL
  ENST00000534334.5 UniProtKB/TrEMBL
  ENST00000541113.6 UniProtKB/TrEMBL
  ENST00000679530.1 UniProtKB/TrEMBL
  ENST00000679687 ENTREZGENE
  ENST00000679687.1 UniProtKB/TrEMBL
  ENST00000679704.1 UniProtKB/TrEMBL
  ENST00000679709.1 UniProtKB/TrEMBL
  ENST00000679976.1 UniProtKB/TrEMBL
  ENST00000680517.1 UniProtKB/TrEMBL
  ENST00000680613.1 UniProtKB/TrEMBL
  ENST00000680662.1 UniProtKB/TrEMBL
  ENST00000680691.1 UniProtKB/TrEMBL
  ENST00000680694.1 UniProtKB/TrEMBL
  ENST00000680743.1 UniProtKB/TrEMBL
  ENST00000680749.1 UniProtKB/TrEMBL
  ENST00000680798.1 UniProtKB/TrEMBL
  ENST00000680805.1 UniProtKB/TrEMBL
  ENST00000680844.1 UniProtKB/TrEMBL
  ENST00000680948.1 UniProtKB/TrEMBL
  ENST00000680964.1 UniProtKB/TrEMBL
  ENST00000681037.1 UniProtKB/TrEMBL
  ENST00000681063.1 UniProtKB/TrEMBL
  ENST00000681209.1 UniProtKB/TrEMBL
  ENST00000681361.1 UniProtKB/TrEMBL
  ENST00000681430.1 UniProtKB/TrEMBL
  ENST00000681446.1 UniProtKB/TrEMBL
  ENST00000681450.1 UniProtKB/TrEMBL
  ENST00000681548.1 UniProtKB/TrEMBL
  ENST00000681616.1 UniProtKB/TrEMBL
  ENST00000681621.1 UniProtKB/TrEMBL
  ENST00000681720.1 UniProtKB/TrEMBL
  ENST00000681790 ENTREZGENE
  ENST00000681790.1 UniProtKB/TrEMBL
  ENST00000681916.1 UniProtKB/TrEMBL
Gene3D-CATH 1.10.540.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Butyryl-CoA Dehydrogenase, subunit A, domain 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000117054 GTEx
HGNC ID HGNC:89 ENTREZGENE
Human Proteome Map ACADM Human Proteome Map
InterPro Acyl-CoA_DH_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA_Oxase/DH_cen-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA_Oxase/DH_mid-dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCo_DH-like_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCo_DH/oxidase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCoA_DH/ox_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCoA_DH/ox_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AcylCoA_DH/oxidase_NM_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MCAD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:34 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 34 ENTREZGENE
OMIM 607008 OMIM
PANTHER HIGH MOBILITY GROUP AT-HOOK 2 UniProtKB/TrEMBL
  MEDIUM-CHAIN SPECIFIC ACYL-COA DEHYDROGENASE, MITOCHONDRIAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MEDIUM-CHAIN SPECIFIC ACYL-COA DEHYDROGENASE, MITOCHONDRIAL-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN GVQW1-RELATED UniProtKB/TrEMBL
Pfam Acyl-CoA_dh_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA_dh_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acyl-CoA_dh_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24425 PharmGKB
PIRSF HsaA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ACYL_COA_DH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACYL_COA_DH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47203 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56645 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z366 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3A5_HUMAN UniProtKB/TrEMBL
  A0A7P0T8B6_HUMAN UniProtKB/TrEMBL
  A0A7P0T8G6_HUMAN UniProtKB/TrEMBL
  A0A7P0T8J9_HUMAN UniProtKB/TrEMBL
  A0A7P0T932_HUMAN UniProtKB/TrEMBL
  A0A7P0T9W7_HUMAN UniProtKB/TrEMBL
  A0A7P0TA39_HUMAN UniProtKB/TrEMBL
  A0A7P0TA63_HUMAN UniProtKB/TrEMBL
  A0A7P0TAB2_HUMAN UniProtKB/TrEMBL
  A0A7P0TAZ5_HUMAN UniProtKB/TrEMBL
  A0A7P0TB28_HUMAN UniProtKB/TrEMBL
  A0A7P0TB51_HUMAN UniProtKB/TrEMBL
  A0A7P0TB55 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0TBD1_HUMAN UniProtKB/TrEMBL
  A0A7P0TBF2_HUMAN UniProtKB/TrEMBL
  A0A7P0Z4Q0_HUMAN UniProtKB/TrEMBL
  ACADM_HUMAN UniProtKB/Swiss-Prot
  B4DJE7 ENTREZGENE, UniProtKB/TrEMBL
  B4DWX6 ENTREZGENE, UniProtKB/TrEMBL
  B7Z9I1 ENTREZGENE, UniProtKB/TrEMBL
  E9PIX8_HUMAN UniProtKB/TrEMBL
  E9PJM9_HUMAN UniProtKB/TrEMBL
  E9PLN7_HUMAN UniProtKB/TrEMBL
  E9PQA8_HUMAN UniProtKB/TrEMBL
  E9PRX4_HUMAN UniProtKB/TrEMBL
  F6YB23 ENTREZGENE, UniProtKB/TrEMBL
  H0YDT5_HUMAN UniProtKB/TrEMBL
  P11310 ENTREZGENE
  Q5HYG7 ENTREZGENE, UniProtKB/TrEMBL
  Q5T4U4 ENTREZGENE
  Q5T4U5 ENTREZGENE, UniProtKB/TrEMBL
  Q9NYF1 ENTREZGENE
UniProt Secondary Q5T4U4 UniProtKB/Swiss-Prot
  Q9NYF1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-10-04 ACADM  acyl-CoA dehydrogenase medium chain  ACADM  acyl-CoA dehydrogenase, C-4 to C-12 straight chain  Symbol and/or name change 5135510 APPROVED
2011-07-27 ACADM  acyl-CoA dehydrogenase, C-4 to C-12 straight chain  ACADM  acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain  Symbol and/or name change 5135510 APPROVED