MCID: MDM001
MIFTS: 29

Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Categories: Rare diseases

Aliases & Classifications for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

MalaCards integrated aliases for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

Name: Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 24 53 29 6 40 73
Mcad Deficiency 24 53
Acyl-Coa Dehydrogenase Medium Chain Deficiency of 53
Medium-Chain Acyl-Coa Dehydrogenase Deficiency 53
Medium Chain Acyl Coa Dehydrogenase Deficiency 53
Medium Chain Acyl Dehydrogenase Deficiency 73
Acadm Deficiency 53
Mcadh Deficiency 53
Mcadd 53

Classifications:



External Ids:

Summaries for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

NIH Rare Diseases : 53 Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD) is an inheritedmetabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). People with MCADD do not have enough of an enzyme needed to metabolize a group of fats called medium-chain fatty acids. Signs and symptoms usually begin by early childhood and may include vomiting, lack of energy, and low blood sugar (hypoglycemia). Symptoms can be triggered by periods of fasting or by illnesses. MCADD is caused by mutations in the ACADM gene and inheritance is autosomal recessive. Treatment includes strict avoidance of fasting and avoidance of medium chain triglycerides in the diet. If not treated, people with MCADD are at risk of serious complications including sudden death.

MalaCards based summary : Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency, also known as mcad deficiency, is related to acyl-coa dehydrogenase, medium-chain, deficiency of and lipoid congenital adrenal hyperplasia, and has symptoms including lethargy, seizures and vomiting. An important gene associated with Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency is ACADM (Acyl-CoA Dehydrogenase Medium Chain). The drugs Glycerol and 4-phenylbutyric acid have been mentioned in the context of this disorder. Affiliated tissues include liver.

Wikipedia : 76 Medium-chain acyl-CoA dehydrogenase deficiency, often known as MCAD deficiency or MCADD, is a disorder... more...

GeneReviews: NBK1424

Related Diseases for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Diseases related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 9, show less)
# Related Disease Score Top Affiliating Genes
1 acyl-coa dehydrogenase, medium-chain, deficiency of 11.9
2 lipoid congenital adrenal hyperplasia 10.2
3 alpha-methylacetoacetic aciduria 10.2
4 cystic fibrosis 10.2
5 isovaleric acidemia 10.2
6 sudden infant death syndrome 10.2
7 fatty liver disease 10.2
8 encephalopathy 10.2
9 hydrocephalus, nonsyndromic, autosomal recessive 2 9.2 ACADM DLSTP1

Graphical network of the top 20 diseases related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:



Diseases related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Symptoms & Phenotypes for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

UMLS symptoms related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:


lethargy, seizures, vomiting

Drugs & Therapeutics for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Drugs for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 16, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glycerol Approved, Investigational Phase 1,Not Applicable 56-81-5 753
2 4-phenylbutyric acid Phase 1
3 Protective Agents Phase 1,Not Applicable
4
Heparin Approved, Investigational Not Applicable 9005-49-6 772 46507594
5 calcium heparin Not Applicable
6 insulin Not Applicable
7 Fibrinolytic Agents Not Applicable
8 Soybean oil, phospholipid emulsion Not Applicable
9 Parenteral Nutrition Solutions Not Applicable
10 Hypoglycemic Agents Not Applicable
11 Pharmaceutical Solutions Not Applicable
12 Anticoagulants Not Applicable
13 Fat Emulsions, Intravenous Not Applicable
14 Insulin, Globin Zinc Not Applicable
15 Calcium, Dietary Not Applicable
16 Soy Bean Nutraceutical Not Applicable

Interventional clinical trials:

(showing 3, show less)
# Name Status NCT ID Phase Drugs
1 Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation Completed NCT01881984 Phase 1 Ravicti
2 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307 Not Applicable Intralipid/Heparin;Glycerol/Saline;Hyperinsulinemic euglycemic clamp
3 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269 Not Applicable

Search NIH Clinical Center for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Genetic Tests for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Genetic tests related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

# Genetic test Affiliating Genes
1 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 29 ACADM

Anatomical Context for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

MalaCards organs/tissues related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

41
Liver

Publications for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Articles related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

(showing 46, show less)
# Title Authors Year
1
MRI in medium-chain acyl-coenzyme a dehydrogenase deficiency: neuroimaging during the first month. ( 28753542 )
2017
2
Medium-chain acyl-Coenzyme A dehydrogenase deficiency (MCADD): a cause of severe hypoglycaemia in an apparently well child. ( 27903579 )
2016
3
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. ( 27477829 )
2016
4
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. ( 26404458 )
2015
5
Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 26215884 )
2015
6
Resuscitation of a neonate with medium chain acyl-coenzyme a dehydrogenase deficiency using extracorporeal life support. ( 24403369 )
2014
7
First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China. ( 25503862 )
2014
8
Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 24799540 )
2014
9
Patients with medium-chain acyl-coenzyme a dehydrogenase deficiency have impaired oxidation of fat during exercise but no effect of L-carnitine supplementation. ( 23426616 )
2013
10
Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 21824573 )
2011
11
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. ( 20580581 )
2010
12
Neuropsychological functioning in children with medium chain acyl coenzyme a dehydrogenase deficiency (MCADD): the impact of early diagnosis and screening on outcome. ( 18608229 )
2009
13
A fatal neonatal presentation of medium-chain acyl coenzyme a dehydrogenase deficiency. ( 18534147 )
2008
14
More on medium-chain acyl-coenzyme a dehydrogenase deficiency in a neonate. ( 18256406 )
2008
15
Medium chain acyl-coenzyme A dehydrogenase deficiency in a neonate. ( 17960024 )
2007
16
Fasting medium chain acyl-coenzyme A dehydrogenase--deficient children can make ketones. ( 11229423 )
2001
17
Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father. ( 11346377 )
2001
18
Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD). ( 11392180 )
2001
19
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. ( 10755375 )
2000
20
Pitfalls in the use of 2-octynoic acid as an in vivo model of medium-chain acyl-coenzyme A dehydrogenase deficiency: ketone turnover and metabolite studies in the rat. ( 10381140 )
1999
21
High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies. ( 9667375 )
1998
22
Simple high-performance liquid chromatographic method for the detection of phenylpropionylglycine in urine as a diagnostic tool in inherited medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 9234867 )
1997
23
Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features. ( 7815228 )
1995
24
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency. ( 8017963 )
1994
25
Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia. ( 8134205 )
1994
26
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. ( 8120710 )
1994
27
Analysis of polymerase chain reaction-product by capillary electrophoresis with laser-induced fluorescence detection and its application to the diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 7981832 )
1994
28
Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency. ( 8215568 )
1993
29
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency ( 20301597 )
1993
30
Limitations of 3-phenylpropionylglycine in early screening for medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 8419594 )
1993
31
Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome. ( 8496748 )
1993
32
Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 8463904 )
1993
33
Laboratory diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency by the amplification refractory mutation system. ( 8432018 )
1993
34
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. ( 1456259 )
1992
35
A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition. ( 1447668 )
1992
36
Medium chain acyl-coenzyme A dehydrogenase deficiency. ( 1436730 )
1992
37
Fatty liver, encephalopathy, and sudden unexpected death in early childhood due to medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 1288265 )
1992
38
Medium chain acyl-coenzyme A dehydrogenase deficiency and SIDS. ( 1635678 )
1992
39
Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death. ( 2046713 )
1991
40
Diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency in the neonatal period by measurement of medium-chain fatty acids in plasma and filter paper blood samples. ( 2391601 )
1990
41
Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine- 304 to glutamate substitution in the mature protein is the single prevalent mutation. ( 2394825 )
1990
42
Quantitation of urinary carnitine esters in a patient with medium-chain acyl-coenzyme A dehydrogenase deficiency: effect of metabolic state and L-carnitine therapy. ( 2795349 )
1989
43
Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 3575262 )
1987
44
Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 3822638 )
1987
45
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 3786030 )
1986
46
Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients. ( 3840178 )
1985

Variations for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

ClinVar genetic disease variations for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

6
(showing 307, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACADM NM_001127328.2(ACADM): c.997A> G (p.Lys333Glu) single nucleotide variant Pathogenic rs77931234 GRCh37 Chromosome 1, 76226846: 76226846
2 ACADM NM_001127328.2(ACADM): c.997A> G (p.Lys333Glu) single nucleotide variant Pathogenic rs77931234 GRCh38 Chromosome 1, 75761161: 75761161
3 ACADM NM_000016.5(ACADM): c.999_1011dupTAGAATGAGTTAC (p.Gln338Terfs) duplication Pathogenic/Likely pathogenic rs786204522 GRCh37 Chromosome 1, 76226860: 76226872
4 ACADM NM_000016.5(ACADM): c.999_1011dupTAGAATGAGTTAC (p.Gln338Terfs) duplication Pathogenic/Likely pathogenic rs786204522 GRCh38 Chromosome 1, 75761175: 75761187
5 ACADM NM_000016.5(ACADM): c.799G> A (p.Gly267Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434274 GRCh37 Chromosome 1, 76215194: 76215194
6 ACADM NM_000016.5(ACADM): c.799G> A (p.Gly267Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434274 GRCh38 Chromosome 1, 75749509: 75749509
7 ACADM NM_000016.5(ACADM): c.1124T> C (p.Ile375Thr) single nucleotide variant Pathogenic rs121434275 GRCh37 Chromosome 1, 76226985: 76226985
8 ACADM NM_000016.5(ACADM): c.1124T> C (p.Ile375Thr) single nucleotide variant Pathogenic rs121434275 GRCh38 Chromosome 1, 75761300: 75761300
9 ACADM NM_000016.5(ACADM): c.730T> C (p.Cys244Arg) single nucleotide variant Pathogenic rs121434276 GRCh37 Chromosome 1, 76215125: 76215125
10 ACADM NM_000016.5(ACADM): c.730T> C (p.Cys244Arg) single nucleotide variant Pathogenic rs121434276 GRCh38 Chromosome 1, 75749440: 75749440
11 ACADM NM_000016.5(ACADM): c.447G> A (p.Met149Ile) single nucleotide variant Pathogenic rs121434277 GRCh37 Chromosome 1, 76200535: 76200535
12 ACADM NM_000016.5(ACADM): c.447G> A (p.Met149Ile) single nucleotide variant Pathogenic rs121434277 GRCh38 Chromosome 1, 75734850: 75734850
13 ACADM NM_000016.5(ACADM): c.1102_1105delTTAG (p.Ala369Leufs) deletion Pathogenic rs387906297 GRCh37 Chromosome 1, 76226963: 76226966
14 ACADM NM_000016.5(ACADM): c.1102_1105delTTAG (p.Ala369Leufs) deletion Pathogenic rs387906297 GRCh38 Chromosome 1, 75761278: 75761281
15 ACADM NM_000016.5(ACADM): c.343_348delGGATGT (p.Gly115_Cys116del) deletion Pathogenic rs864621963 GRCh38 Chromosome 1, 75733584: 75733589
16 ACADM NM_000016.5(ACADM): c.343_348delGGATGT (p.Gly115_Cys116del) deletion Pathogenic rs864621963 GRCh37 Chromosome 1, 76199269: 76199274
17 ACADM NM_000016.5(ACADM): c.583G> A (p.Gly195Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434278 GRCh37 Chromosome 1, 76205779: 76205779
18 ACADM NM_000016.5(ACADM): c.583G> A (p.Gly195Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434278 GRCh38 Chromosome 1, 75740094: 75740094
19 ACADM NM_000016.5(ACADM): c.577A> G (p.Thr193Ala) single nucleotide variant Pathogenic rs121434279 GRCh37 Chromosome 1, 76205773: 76205773
20 ACADM NM_000016.5(ACADM): c.577A> G (p.Thr193Ala) single nucleotide variant Pathogenic rs121434279 GRCh38 Chromosome 1, 75740088: 75740088
21 ACADM NM_000016.5(ACADM): c.842G> C (p.Arg281Thr) single nucleotide variant Pathogenic rs121434282 GRCh37 Chromosome 1, 76215237: 76215237
22 ACADM NM_000016.5(ACADM): c.842G> C (p.Arg281Thr) single nucleotide variant Pathogenic rs121434282 GRCh38 Chromosome 1, 75749552: 75749552
23 ACADM NM_000016.5(ACADM): c.734C> T (p.Ser245Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121434281 GRCh37 Chromosome 1, 76215129: 76215129
24 ACADM NM_000016.5(ACADM): c.734C> T (p.Ser245Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121434281 GRCh38 Chromosome 1, 75749444: 75749444
25 ACADM NM_000016.5(ACADM): c.362C> T (p.Thr121Ile) single nucleotide variant Pathogenic rs121434283 GRCh37 Chromosome 1, 76199288: 76199288
26 ACADM NM_000016.5(ACADM): c.362C> T (p.Thr121Ile) single nucleotide variant Pathogenic rs121434283 GRCh38 Chromosome 1, 75733603: 75733603
27 ACADM NM_000016.5(ACADM): c.157C> T (p.Arg53Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398123072 GRCh37 Chromosome 1, 76198367: 76198367
28 ACADM NM_000016.5(ACADM): c.157C> T (p.Arg53Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398123072 GRCh38 Chromosome 1, 75732682: 75732682
29 ACADM NM_000016.5(ACADM): c.216+2T> G single nucleotide variant Pathogenic rs398123073 GRCh37 Chromosome 1, 76198428: 76198428
30 ACADM NM_000016.5(ACADM): c.216+2T> G single nucleotide variant Pathogenic rs398123073 GRCh38 Chromosome 1, 75732743: 75732743
31 ACADM NM_000016.5(ACADM): c.233T> C (p.Ile78Thr) single nucleotide variant Pathogenic rs398123074 GRCh37 Chromosome 1, 76198554: 76198554
32 ACADM NM_000016.5(ACADM): c.233T> C (p.Ile78Thr) single nucleotide variant Pathogenic rs398123074 GRCh38 Chromosome 1, 75732869: 75732869
33 ACADM NM_000016.5(ACADM): c.253G> A (p.Gly85Ser) single nucleotide variant Likely pathogenic rs398123075 GRCh37 Chromosome 1, 76198574: 76198574
34 ACADM NM_000016.5(ACADM): c.253G> A (p.Gly85Ser) single nucleotide variant Likely pathogenic rs398123075 GRCh38 Chromosome 1, 75732889: 75732889
35 ACADM NM_000016.5(ACADM): c.351A> C (p.Thr117=) single nucleotide variant risk factor rs74090726 GRCh37 Chromosome 1, 76199277: 76199277
36 ACADM NM_000016.5(ACADM): c.351A> C (p.Thr117=) single nucleotide variant risk factor rs74090726 GRCh38 Chromosome 1, 75733592: 75733592
37 ACADM NM_000016.5(ACADM): c.616C> T (p.Arg206Cys) single nucleotide variant Pathogenic/Likely pathogenic rs373715782 GRCh37 Chromosome 1, 76211507: 76211507
38 ACADM NM_000016.5(ACADM): c.616C> T (p.Arg206Cys) single nucleotide variant Pathogenic/Likely pathogenic rs373715782 GRCh38 Chromosome 1, 75745822: 75745822
39 ACADM NM_000016.5(ACADM): c.617G> A (p.Arg206His) single nucleotide variant Pathogenic rs200724875 GRCh37 Chromosome 1, 76211508: 76211508
40 ACADM NM_000016.5(ACADM): c.617G> A (p.Arg206His) single nucleotide variant Pathogenic rs200724875 GRCh38 Chromosome 1, 75745823: 75745823
41 ACADM NM_000016.5(ACADM): c.244dupT (p.Trp82Leufs) duplication Pathogenic/Likely pathogenic rs786204566 GRCh37 Chromosome 1, 76198565: 76198565
42 ACADM NM_000016.5(ACADM): c.244dupT (p.Trp82Leufs) duplication Pathogenic/Likely pathogenic rs786204566 GRCh38 Chromosome 1, 75732880: 75732880
43 ACADM NM_000016.5(ACADM): c.387+1delG deletion Conflicting interpretations of pathogenicity rs786204424 GRCh38 Chromosome 1, 75733629: 75733629
44 ACADM NM_000016.5(ACADM): c.387+1delG deletion Conflicting interpretations of pathogenicity rs786204424 GRCh37 Chromosome 1, 76199314: 76199314
45 ACADM NM_000016.5(ACADM): c.449_452delCTGA (p.Thr150Argfs) deletion Pathogenic/Likely pathogenic rs786204642 GRCh37 Chromosome 1, 76200537: 76200540
46 ACADM NM_000016.5(ACADM): c.449_452delCTGA (p.Thr150Argfs) deletion Pathogenic/Likely pathogenic rs786204642 GRCh38 Chromosome 1, 75734852: 75734855
47 ACADM NM_000016.5(ACADM): c.850-2A> G single nucleotide variant Likely pathogenic rs761317029 GRCh38 Chromosome 1, 75750449: 75750449
48 ACADM NM_000016.5(ACADM): c.850-2A> G single nucleotide variant Likely pathogenic rs761317029 GRCh37 Chromosome 1, 76216134: 76216134
49 ACADM NM_000016.5(ACADM): c.977T> C (p.Met326Thr) single nucleotide variant Likely pathogenic rs786204631 GRCh38 Chromosome 1, 75761153: 75761153
50 ACADM NM_000016.5(ACADM): c.977T> C (p.Met326Thr) single nucleotide variant Likely pathogenic rs786204631 GRCh37 Chromosome 1, 76226838: 76226838
51 ACADM NM_000016.5(ACADM): c.1045C> T (p.Arg349Ter) single nucleotide variant Pathogenic/Likely pathogenic rs148207467 GRCh37 Chromosome 1, 76226906: 76226906
52 ACADM NM_000016.5(ACADM): c.1045C> T (p.Arg349Ter) single nucleotide variant Pathogenic/Likely pathogenic rs148207467 GRCh38 Chromosome 1, 75761221: 75761221
53 ACADM NM_000016.5(ACADM): c.928G> A (p.Gly310Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs747268471 GRCh37 Chromosome 1, 76216214: 76216214
54 ACADM NM_000016.5(ACADM): c.928G> A (p.Gly310Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs747268471 GRCh38 Chromosome 1, 75750529: 75750529
55 ACADM NM_000016.5(ACADM): c.287-1G> C single nucleotide variant Pathogenic rs794727694 GRCh37 Chromosome 1, 76199212: 76199212
56 ACADM NM_000016.5(ACADM): c.287-1G> C single nucleotide variant Pathogenic rs794727694 GRCh38 Chromosome 1, 75733527: 75733527
57 ACADM NM_000016.5(ACADM): c.443G> A (p.Arg148Lys) single nucleotide variant Pathogenic/Likely pathogenic rs778906552 GRCh37 Chromosome 1, 76200531: 76200531
58 ACADM NM_000016.5(ACADM): c.443G> A (p.Arg148Lys) single nucleotide variant Pathogenic/Likely pathogenic rs778906552 GRCh38 Chromosome 1, 75734846: 75734846
59 ACADM NM_000016.5(ACADM): c.558T> A (p.Asn186Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs754359356 GRCh37 Chromosome 1, 76205754: 76205754
60 ACADM NM_000016.5(ACADM): c.558T> A (p.Asn186Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs754359356 GRCh38 Chromosome 1, 75740069: 75740069
61 ACADM NM_000016.5(ACADM): c.426delG (p.Lys143Argfs) deletion Pathogenic rs777998984 GRCh37 Chromosome 1, 76200514: 76200514
62 ACADM NM_000016.5(ACADM): c.426delG (p.Lys143Argfs) deletion Pathogenic rs777998984 GRCh38 Chromosome 1, 75734829: 75734829
63 ACADM NM_000016.5(ACADM): c.683C> A (p.Thr228Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs149678400 GRCh38 Chromosome 1, 75745889: 75745889
64 ACADM NM_000016.5(ACADM): c.683C> A (p.Thr228Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs149678400 GRCh37 Chromosome 1, 76211574: 76211574
65 ACADM NM_000016.5(ACADM): c.698T> C (p.Ile233Thr) single nucleotide variant Likely pathogenic rs770273135 GRCh37 Chromosome 1, 76211589: 76211589
66 ACADM NM_000016.5(ACADM): c.698T> C (p.Ile233Thr) single nucleotide variant Likely pathogenic rs770273135 GRCh38 Chromosome 1, 75745904: 75745904
67 ACADM NM_000016.5(ACADM): c.797A> G (p.Asp266Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201375579 GRCh37 Chromosome 1, 76215192: 76215192
68 ACADM NM_000016.5(ACADM): c.797A> G (p.Asp266Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs201375579 GRCh38 Chromosome 1, 75749507: 75749507
69 ACADM NM_000016.5(ACADM): c.1247T> C (p.Ile416Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs760892123 GRCh37 Chromosome 1, 76228429: 76228429
70 ACADM NM_000016.5(ACADM): c.1247T> C (p.Ile416Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs760892123 GRCh38 Chromosome 1, 75762744: 75762744
71 ACADM NM_000016.5(ACADM): c.-17C> G single nucleotide variant Uncertain significance rs367734665 GRCh37 Chromosome 1, 76190456: 76190456
72 ACADM NM_000016.5(ACADM): c.-17C> G single nucleotide variant Uncertain significance rs367734665 GRCh38 Chromosome 1, 75724771: 75724771
73 ACADM NM_000016.5(ACADM): c.-6_6delGCCAACATGGCAinsACCCCGAAGG indel Pathogenic rs875989865 GRCh37 Chromosome 1, 76190467: 76190478
74 ACADM NM_000016.5(ACADM): c.-6_6delGCCAACATGGCAinsACCCCGAAGG indel Pathogenic rs875989865 GRCh38 Chromosome 1, 75724782: 75724793
75 ACADM NM_000016.5(ACADM): c.31-73T> C single nucleotide variant Benign rs142795930 GRCh37 Chromosome 1, 76194013: 76194013
76 ACADM NM_000016.5(ACADM): c.31-73T> C single nucleotide variant Benign rs142795930 GRCh38 Chromosome 1, 75728328: 75728328
77 ACADM NM_000016.5(ACADM): c.31-37C> T single nucleotide variant Benign rs201590881 GRCh37 Chromosome 1, 76194049: 76194049
78 ACADM NM_000016.5(ACADM): c.31-37C> T single nucleotide variant Benign rs201590881 GRCh38 Chromosome 1, 75728364: 75728364
79 ACADM NM_000016.5(ACADM): c.50G> A (p.Arg17His) single nucleotide variant Uncertain significance rs17848070 GRCh38 Chromosome 1, 75728420: 75728420
80 ACADM NM_000016.5(ACADM): c.50G> A (p.Arg17His) single nucleotide variant Uncertain significance rs17848070 GRCh37 Chromosome 1, 76194105: 76194105
81 ACADM NM_000016.5(ACADM): c.107_113dupGATTTAG (p.Ser38Argfs) duplication Pathogenic/Likely pathogenic rs875989875 GRCh37 Chromosome 1, 76194162: 76194168
82 ACADM NM_000016.5(ACADM): c.107_113dupGATTTAG (p.Ser38Argfs) duplication Pathogenic/Likely pathogenic rs875989875 GRCh38 Chromosome 1, 75728477: 75728483
83 ACADM NM_000016.5(ACADM): c.118+18T> A single nucleotide variant Benign rs755405418 GRCh37 Chromosome 1, 76194191: 76194191
84 ACADM NM_000016.5(ACADM): c.118+18T> A single nucleotide variant Benign rs755405418 GRCh38 Chromosome 1, 75728506: 75728506
85 ACADM NM_000016.5(ACADM): c.118+60delT deletion Benign rs796117827 GRCh37 Chromosome 1, 76194233: 76194233
86 ACADM NM_000016.5(ACADM): c.118+60delT deletion Benign rs796117827 GRCh38 Chromosome 1, 75728548: 75728548
87 ACADM NM_000016.5(ACADM): c.118+62delT deletion Benign rs875989853 GRCh37 Chromosome 1, 76194235: 76194235
88 ACADM NM_000016.5(ACADM): c.118+62delT deletion Benign rs875989853 GRCh38 Chromosome 1, 75728550: 75728550
89 ACADM NM_000016.5(ACADM): c.118+114A> G single nucleotide variant Benign rs875989868 GRCh37 Chromosome 1, 76194287: 76194287
90 ACADM NM_000016.5(ACADM): c.118+114A> G single nucleotide variant Benign rs875989868 GRCh38 Chromosome 1, 75728602: 75728602
91 ACADM NM_000016.5(ACADM): c.158G> A (p.Arg53His) single nucleotide variant Uncertain significance rs754938068 GRCh37 Chromosome 1, 76198368: 76198368
92 ACADM NM_000016.5(ACADM): c.158G> A (p.Arg53His) single nucleotide variant Uncertain significance rs754938068 GRCh38 Chromosome 1, 75732683: 75732683
93 ACADM NM_000016.5(ACADM): c.238A> G (p.Arg80Gly) single nucleotide variant Uncertain significance rs758476299 GRCh37 Chromosome 1, 76198559: 76198559
94 ACADM NM_000016.5(ACADM): c.238A> G (p.Arg80Gly) single nucleotide variant Uncertain significance rs758476299 GRCh38 Chromosome 1, 75732874: 75732874
95 ACADM NM_000016.5(ACADM): c.250C> T (p.Leu84Phe) single nucleotide variant Pathogenic/Likely pathogenic rs762114560 GRCh37 Chromosome 1, 76198571: 76198571
96 ACADM NM_000016.5(ACADM): c.250C> T (p.Leu84Phe) single nucleotide variant Pathogenic/Likely pathogenic rs762114560 GRCh38 Chromosome 1, 75732886: 75732886
97 ACADM NM_000016.5(ACADM): c.295G> A (p.Gly99Arg) single nucleotide variant Uncertain significance rs875989858 GRCh37 Chromosome 1, 76199221: 76199221
98 ACADM NM_000016.5(ACADM): c.295G> A (p.Gly99Arg) single nucleotide variant Uncertain significance rs875989858 GRCh38 Chromosome 1, 75733536: 75733536
99 ACADM NM_000016.5(ACADM): c.296G> T (p.Gly99Val) single nucleotide variant Uncertain significance rs370608001 GRCh37 Chromosome 1, 76199222: 76199222
100 ACADM NM_000016.5(ACADM): c.296G> T (p.Gly99Val) single nucleotide variant Uncertain significance rs370608001 GRCh38 Chromosome 1, 75733537: 75733537
101 ACADM NM_000016.5(ACADM): c.302G> A (p.Gly101Glu) single nucleotide variant Uncertain significance rs875989862 GRCh37 Chromosome 1, 76199228: 76199228
102 ACADM NM_000016.5(ACADM): c.302G> A (p.Gly101Glu) single nucleotide variant Uncertain significance rs875989862 GRCh38 Chromosome 1, 75733543: 75733543
103 ACADM NM_000016.5(ACADM): c.322_325delATTA (p.Ile108Valfs) deletion Pathogenic rs875989873 GRCh37 Chromosome 1, 76199248: 76199251
104 ACADM NM_000016.5(ACADM): c.322_325delATTA (p.Ile108Valfs) deletion Pathogenic rs875989873 GRCh38 Chromosome 1, 75733563: 75733566
105 ACADM NM_000016.5(ACADM): c.346T> G (p.Cys116Gly) single nucleotide variant Uncertain significance rs875989863 GRCh37 Chromosome 1, 76199272: 76199272
106 ACADM NM_000016.5(ACADM): c.346T> G (p.Cys116Gly) single nucleotide variant Uncertain significance rs875989863 GRCh38 Chromosome 1, 75733587: 75733587
107 ACADM NM_000016.5(ACADM): c.347G> A (p.Cys116Tyr) single nucleotide variant Pathogenic rs875989859 GRCh38 Chromosome 1, 75733588: 75733588
108 ACADM NM_000016.5(ACADM): c.347G> A (p.Cys116Tyr) single nucleotide variant Pathogenic rs875989859 GRCh37 Chromosome 1, 76199273: 76199273
109 ACADM NM_000016.5(ACADM): c.388-3T> G single nucleotide variant Conflicting interpretations of pathogenicity rs764942250 GRCh37 Chromosome 1, 76200473: 76200473
110 ACADM NM_000016.5(ACADM): c.388-3T> G single nucleotide variant Conflicting interpretations of pathogenicity rs764942250 GRCh38 Chromosome 1, 75734788: 75734788
111 ACADM NM_000016.5(ACADM): c.395C> G (p.Pro132Arg) single nucleotide variant Likely pathogenic rs875989854 GRCh37 Chromosome 1, 76200483: 76200483
112 ACADM NM_000016.5(ACADM): c.395C> G (p.Pro132Arg) single nucleotide variant Likely pathogenic rs875989854 GRCh38 Chromosome 1, 75734798: 75734798
113 ACADM NM_000016.5(ACADM): c.430_432delAAG (p.Lys144del) deletion Conflicting interpretations of pathogenicity rs875989857 GRCh37 Chromosome 1, 76200518: 76200520
114 ACADM NM_000016.5(ACADM): c.430_432delAAG (p.Lys144del) deletion Conflicting interpretations of pathogenicity rs875989857 GRCh38 Chromosome 1, 75734833: 75734835
115 ACADM NM_000016.5(ACADM): c.447G> T (p.Met149Ile) single nucleotide variant Pathogenic rs121434277 GRCh38 Chromosome 1, 75734850: 75734850
116 ACADM NM_000016.5(ACADM): c.447G> T (p.Met149Ile) single nucleotide variant Pathogenic rs121434277 GRCh37 Chromosome 1, 76200535: 76200535
117 ACADM NM_000016.5(ACADM): c.464T> C (p.Met155Thr) single nucleotide variant Pathogenic rs875989876 GRCh38 Chromosome 1, 75734867: 75734867
118 ACADM NM_000016.5(ACADM): c.464T> C (p.Met155Thr) single nucleotide variant Pathogenic rs875989876 GRCh37 Chromosome 1, 76200552: 76200552
119 ACADM NM_000016.5(ACADM): c.468+62C> T single nucleotide variant Benign rs875989870 GRCh37 Chromosome 1, 76200618: 76200618
120 ACADM NM_000016.5(ACADM): c.468+62C> T single nucleotide variant Benign rs875989870 GRCh38 Chromosome 1, 75734933: 75734933
121 ACADM NM_000016.5(ACADM): c.468+71T> C single nucleotide variant Benign rs571856182 GRCh37 Chromosome 1, 76200627: 76200627
122 ACADM NM_000016.5(ACADM): c.468+71T> C single nucleotide variant Benign rs571856182 GRCh38 Chromosome 1, 75734942: 75734942
123 ACADM NM_000016.5(ACADM): c.469-9A> G single nucleotide variant Benign/Likely benign rs181322317 GRCh37 Chromosome 1, 76205656: 76205656
124 ACADM NM_000016.5(ACADM): c.469-9A> G single nucleotide variant Benign/Likely benign rs181322317 GRCh38 Chromosome 1, 75739971: 75739971
125 ACADM NM_000016.5(ACADM): c.469-1G> A single nucleotide variant Pathogenic rs875989869 GRCh37 Chromosome 1, 76205664: 76205664
126 ACADM NM_000016.5(ACADM): c.469-1G> A single nucleotide variant Pathogenic rs875989869 GRCh38 Chromosome 1, 75739979: 75739979
127 ACADM NM_000016.5(ACADM): c.503A> C (p.Asp168Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs745844469 GRCh37 Chromosome 1, 76205699: 76205699
128 ACADM NM_000016.5(ACADM): c.503A> C (p.Asp168Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs745844469 GRCh38 Chromosome 1, 75740014: 75740014
129 ACADM NM_000016.5(ACADM): c.508G> T (p.Ala170Ser) single nucleotide variant Uncertain significance rs763613689 GRCh37 Chromosome 1, 76205704: 76205704
130 ACADM NM_000016.5(ACADM): c.508G> T (p.Ala170Ser) single nucleotide variant Uncertain significance rs763613689 GRCh38 Chromosome 1, 75740019: 75740019
131 ACADM NM_000016.5(ACADM): c.526G> T (p.Ala176Ser) single nucleotide variant Uncertain significance rs200754053 GRCh38 Chromosome 1, 75740037: 75740037
132 ACADM NM_000016.5(ACADM): c.526G> T (p.Ala176Ser) single nucleotide variant Uncertain significance rs200754053 GRCh37 Chromosome 1, 76205722: 76205722
133 ACADM NM_000016.5(ACADM): c.580A> G (p.Asn194Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs773677327 GRCh38 Chromosome 1, 75740091: 75740091
134 ACADM NM_000016.5(ACADM): c.580A> G (p.Asn194Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs773677327 GRCh37 Chromosome 1, 76205776: 76205776
135 ACADM NM_000016.5(ACADM): c.599+1G> A single nucleotide variant Likely pathogenic rs866388216 GRCh38 Chromosome 1, 75740111: 75740111
136 ACADM NM_000016.5(ACADM): c.599+1G> A single nucleotide variant Likely pathogenic rs866388216 GRCh37 Chromosome 1, 76205796: 76205796
137 ACADM NM_000016.5(ACADM): c.599+5G> A single nucleotide variant Likely pathogenic rs875989861 GRCh37 Chromosome 1, 76205800: 76205800
138 ACADM NM_000016.5(ACADM): c.599+5G> A single nucleotide variant Likely pathogenic rs875989861 GRCh38 Chromosome 1, 75740115: 75740115
139 ACADM NM_000016.5(ACADM): c.600-18G> A single nucleotide variant Conflicting interpretations of pathogenicity rs370523609 GRCh37 Chromosome 1, 76211473: 76211473
140 ACADM NM_000016.5(ACADM): c.600-18G> A single nucleotide variant Conflicting interpretations of pathogenicity rs370523609 GRCh38 Chromosome 1, 75745788: 75745788
141 ACADM NM_000016.5(ACADM): c.602A> G (p.Tyr201Cys) single nucleotide variant Uncertain significance rs875989871 GRCh37 Chromosome 1, 76211493: 76211493
142 ACADM NM_000016.5(ACADM): c.602A> G (p.Tyr201Cys) single nucleotide variant Uncertain significance rs875989871 GRCh38 Chromosome 1, 75745808: 75745808
143 ACADM NM_000016.5(ACADM): c.609A> C (p.Leu203Phe) single nucleotide variant Pathogenic rs751829413 GRCh37 Chromosome 1, 76211500: 76211500
144 ACADM NM_000016.5(ACADM): c.609A> C (p.Leu203Phe) single nucleotide variant Pathogenic rs751829413 GRCh38 Chromosome 1, 75745815: 75745815
145 ACADM NM_000016.5(ACADM): c.661G> A (p.Gly221Arg) single nucleotide variant Uncertain significance rs753627680 GRCh37 Chromosome 1, 76211552: 76211552
146 ACADM NM_000016.5(ACADM): c.661G> A (p.Gly221Arg) single nucleotide variant Uncertain significance rs753627680 GRCh38 Chromosome 1, 75745867: 75745867
147 ACADM NM_000016.5(ACADM): c.678A> G (p.Ala226=) single nucleotide variant Conflicting interpretations of pathogenicity rs2229249 GRCh37 Chromosome 1, 76211569: 76211569
148 ACADM NM_000016.5(ACADM): c.678A> G (p.Ala226=) single nucleotide variant Conflicting interpretations of pathogenicity rs2229249 GRCh38 Chromosome 1, 75745884: 75745884
149 ACADM NM_000016.5(ACADM): c.728G> A (p.Arg243Gln) single nucleotide variant Uncertain significance rs373852490 GRCh37 Chromosome 1, 76215123: 76215123
150 ACADM NM_000016.5(ACADM): c.728G> A (p.Arg243Gln) single nucleotide variant Uncertain significance rs373852490 GRCh38 Chromosome 1, 75749438: 75749438
151 ACADM NM_000016.5(ACADM): c.742A> G (p.Arg248Gly) single nucleotide variant Pathogenic rs875989867 GRCh37 Chromosome 1, 76215137: 76215137
152 ACADM NM_000016.5(ACADM): c.742A> G (p.Arg248Gly) single nucleotide variant Pathogenic rs875989867 GRCh38 Chromosome 1, 75749452: 75749452
153 ACADM NM_000016.5(ACADM): c.755T> G (p.Phe252Cys) single nucleotide variant Uncertain significance rs780510026 GRCh38 Chromosome 1, 75749465: 75749465
154 ACADM NM_000016.5(ACADM): c.755T> G (p.Phe252Cys) single nucleotide variant Uncertain significance rs780510026 GRCh37 Chromosome 1, 76215150: 76215150
155 ACADM NM_000016.5(ACADM): c.757G> A (p.Glu253Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs768884003 GRCh38 Chromosome 1, 75749467: 75749467
156 ACADM NM_000016.5(ACADM): c.757G> A (p.Glu253Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs768884003 GRCh37 Chromosome 1, 76215152: 76215152
157 ACADM NM_000016.5(ACADM): c.817_829delGCAATGGGAGCTT (p.Ala273Leufs) deletion Pathogenic/Likely pathogenic rs875989872 GRCh38 Chromosome 1, 75749527: 75749539
158 ACADM NM_000016.5(ACADM): c.817_829delGCAATGGGAGCTT (p.Ala273Leufs) deletion Pathogenic/Likely pathogenic rs875989872 GRCh37 Chromosome 1, 76215212: 76215224
159 ACADM NM_000016.5(ACADM): c.881G> C (p.Arg294Thr) single nucleotide variant Pathogenic/Likely pathogenic rs779759347 GRCh37 Chromosome 1, 76216167: 76216167
160 ACADM NM_000016.5(ACADM): c.881G> C (p.Arg294Thr) single nucleotide variant Pathogenic/Likely pathogenic rs779759347 GRCh38 Chromosome 1, 75750482: 75750482
161 ACADM NM_000016.5(ACADM): c.907G> A (p.Ala303Thr) single nucleotide variant Uncertain significance rs875989855 GRCh37 Chromosome 1, 76216193: 76216193
162 ACADM NM_000016.5(ACADM): c.907G> A (p.Ala303Thr) single nucleotide variant Uncertain significance rs875989855 GRCh38 Chromosome 1, 75750508: 75750508
163 ACADM NM_000016.5(ACADM): c.926dupT (p.Gly310Argfs) duplication Pathogenic/Likely pathogenic rs875989864 GRCh37 Chromosome 1, 76216212: 76216212
164 ACADM NM_000016.5(ACADM): c.926dupT (p.Gly310Argfs) duplication Pathogenic/Likely pathogenic rs875989864 GRCh38 Chromosome 1, 75750527: 75750527
165 ACADM NM_000016.5(ACADM): c.984delG (p.Met328Ilefs) deletion Pathogenic rs747610156 GRCh37 Chromosome 1, 76226845: 76226845
166 ACADM NM_000016.5(ACADM): c.984delG (p.Met328Ilefs) deletion Pathogenic rs747610156 GRCh38 Chromosome 1, 75761160: 75761160
167 ACADM NM_000016.5(ACADM): c.985A> C (p.Lys329Gln) single nucleotide variant Pathogenic rs77931234 GRCh37 Chromosome 1, 76226846: 76226846
168 ACADM NM_000016.5(ACADM): c.985A> C (p.Lys329Gln) single nucleotide variant Pathogenic rs77931234 GRCh38 Chromosome 1, 75761161: 75761161
169 ACADM NM_000016.5(ACADM): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs796051896 GRCh37 Chromosome 1, 76226873: 76226873
170 ACADM NM_000016.5(ACADM): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs796051896 GRCh38 Chromosome 1, 75761188: 75761188
171 ACADM NM_000016.5(ACADM): c.1012_1013insTAGAATGAGTTAC (p.Gln338Leufs) insertion Pathogenic rs875989874 GRCh37 Chromosome 1, 76226873: 76226874
172 ACADM NM_000016.5(ACADM): c.1012_1013insTAGAATGAGTTAC (p.Gln338Leufs) insertion Pathogenic rs875989874 GRCh38 Chromosome 1, 75761188: 75761189
173 ACADM NM_000016.5(ACADM): c.1057T> G (p.Tyr353Asp) single nucleotide variant Uncertain significance rs875989856 GRCh37 Chromosome 1, 76226918: 76226918
174 ACADM NM_000016.5(ACADM): c.1057T> G (p.Tyr353Asp) single nucleotide variant Uncertain significance rs875989856 GRCh38 Chromosome 1, 75761233: 75761233
175 ACADM NM_000016.5(ACADM): c.1087G> A (p.Asp363Asn) single nucleotide variant Uncertain significance rs875989866 GRCh38 Chromosome 1, 75761263: 75761263
176 ACADM NM_000016.5(ACADM): c.1087G> A (p.Asp363Asn) single nucleotide variant Uncertain significance rs875989866 GRCh37 Chromosome 1, 76226948: 76226948
177 ACADM NM_000016.5(ACADM): c.1115C> A (p.Ala372Asp) single nucleotide variant Uncertain significance rs781424858 GRCh37 Chromosome 1, 76226976: 76226976
178 ACADM NM_000016.5(ACADM): c.1115C> A (p.Ala372Asp) single nucleotide variant Uncertain significance rs781424858 GRCh38 Chromosome 1, 75761291: 75761291
179 ACADM NM_000016.5(ACADM): c.1184A> C (p.Lys395Thr) single nucleotide variant Uncertain significance rs776312173 GRCh38 Chromosome 1, 75761360: 75761360
180 ACADM NM_000016.5(ACADM): c.1184A> C (p.Lys395Thr) single nucleotide variant Uncertain significance rs776312173 GRCh37 Chromosome 1, 76227045: 76227045
181 ACADM NM_000016.5(ACADM): c.1189T> A (p.Tyr397Asn) single nucleotide variant Uncertain significance rs759158371 GRCh38 Chromosome 1, 75761365: 75761365
182 ACADM NM_000016.5(ACADM): c.1189T> A (p.Tyr397Asn) single nucleotide variant Uncertain significance rs759158371 GRCh37 Chromosome 1, 76227050: 76227050
183 ACADM NM_000016.5(ACADM): c.1189dupT (p.Tyr397Leufs) duplication Pathogenic rs875989877 GRCh38 Chromosome 1, 75761365: 75761365
184 ACADM NM_000016.5(ACADM): c.1189dupT (p.Tyr397Leufs) duplication Pathogenic rs875989877 GRCh37 Chromosome 1, 76227050: 76227050
185 ACADM NM_000016.5(ACADM): c.1221_1222delAA (p.Arg408Thrfs) deletion Pathogenic rs875989860 GRCh38 Chromosome 1, 75762718: 75762719
186 ACADM NM_000016.5(ACADM): c.1221_1222delAA (p.Arg408Thrfs) deletion Pathogenic rs875989860 GRCh37 Chromosome 1, 76228403: 76228404
187 ACADM NM_000016.5(ACADM): c.*39G> A single nucleotide variant Benign rs17848065 GRCh37 Chromosome 1, 76228487: 76228487
188 ACADM NM_000016.5(ACADM): c.*39G> A single nucleotide variant Benign rs17848065 GRCh38 Chromosome 1, 75762802: 75762802
189 ACADM NM_000016.5(ACADM): c.*77C> T single nucleotide variant Conflicting interpretations of pathogenicity rs143911981 GRCh37 Chromosome 1, 76228525: 76228525
190 ACADM NM_000016.5(ACADM): c.*77C> T single nucleotide variant Conflicting interpretations of pathogenicity rs143911981 GRCh38 Chromosome 1, 75762840: 75762840
191 ACADM NM_000016.5(ACADM): c.134A> G (p.Gln45Arg) single nucleotide variant Likely pathogenic rs757434857 GRCh37 Chromosome 1, 76198344: 76198344
192 ACADM NM_000016.5(ACADM): c.134A> G (p.Gln45Arg) single nucleotide variant Likely pathogenic rs757434857 GRCh38 Chromosome 1, 75732659: 75732659
193 ACADM NM_000016.5(ACADM): c.-375C> T single nucleotide variant Uncertain significance rs886046519 GRCh37 Chromosome 1, 76190098: 76190098
194 ACADM NM_000016.5(ACADM): c.-375C> T single nucleotide variant Uncertain significance rs886046519 GRCh38 Chromosome 1, 75724413: 75724413
195 ACADM NM_000016.5(ACADM): c.-342G> T single nucleotide variant Uncertain significance rs886046520 GRCh38 Chromosome 1, 75724446: 75724446
196 ACADM NM_000016.5(ACADM): c.-342G> T single nucleotide variant Uncertain significance rs886046520 GRCh37 Chromosome 1, 76190131: 76190131
197 ACADM NM_000016.5(ACADM): c.-142C> G single nucleotide variant Likely benign rs61124994 GRCh38 Chromosome 1, 75724646: 75724646
198 ACADM NM_000016.5(ACADM): c.-142C> G single nucleotide variant Likely benign rs61124994 GRCh37 Chromosome 1, 76190331: 76190331
199 ACADM NM_000016.5(ACADM): c.-29T> C single nucleotide variant Uncertain significance rs763024539 GRCh38 Chromosome 1, 75724759: 75724759
200 ACADM NM_000016.5(ACADM): c.-29T> C single nucleotide variant Uncertain significance rs763024539 GRCh37 Chromosome 1, 76190444: 76190444
201 ACADM NM_000016.5(ACADM): c.*44T> C single nucleotide variant Uncertain significance rs374993494 GRCh38 Chromosome 1, 75762807: 75762807
202 ACADM NM_000016.5(ACADM): c.*44T> C single nucleotide variant Uncertain significance rs374993494 GRCh37 Chromosome 1, 76228492: 76228492
203 ACADM NM_000016.5(ACADM): c.*878T> C single nucleotide variant Benign rs1146587 GRCh38 Chromosome 1, 75763641: 75763641
204 ACADM NM_000016.5(ACADM): c.*878T> C single nucleotide variant Benign rs1146587 GRCh37 Chromosome 1, 76229326: 76229326
205 ACADM NM_000016.5(ACADM): c.-362T> C single nucleotide variant Likely benign rs1251076 GRCh38 Chromosome 1, 75724426: 75724426
206 ACADM NM_000016.5(ACADM): c.-362T> C single nucleotide variant Likely benign rs1251076 GRCh37 Chromosome 1, 76190111: 76190111
207 ACADM NM_000016.5(ACADM): c.57T> C (p.His19=) single nucleotide variant Uncertain significance rs762984318 GRCh38 Chromosome 1, 75728427: 75728427
208 ACADM NM_000016.5(ACADM): c.57T> C (p.His19=) single nucleotide variant Uncertain significance rs762984318 GRCh37 Chromosome 1, 76194112: 76194112
209 ACADM NM_000016.5(ACADM): c.*672T> C single nucleotide variant Likely benign rs8763 GRCh38 Chromosome 1, 75763435: 75763435
210 ACADM NM_000016.5(ACADM): c.*672T> C single nucleotide variant Likely benign rs8763 GRCh37 Chromosome 1, 76229120: 76229120
211 ACADM NM_000016.5(ACADM): c.-403C> T single nucleotide variant Uncertain significance rs886046518 GRCh37 Chromosome 1, 76190070: 76190070
212 ACADM NM_000016.5(ACADM): c.-403C> T single nucleotide variant Uncertain significance rs886046518 GRCh38 Chromosome 1, 75724385: 75724385
213 ACADM NM_000016.5(ACADM): c.-401G> A single nucleotide variant Likely benign rs114005461 GRCh37 Chromosome 1, 76190072: 76190072
214 ACADM NM_000016.5(ACADM): c.-401G> A single nucleotide variant Likely benign rs114005461 GRCh38 Chromosome 1, 75724387: 75724387
215 ACADM NM_000016.5(ACADM): c.-169C> T single nucleotide variant Uncertain significance rs886046522 GRCh38 Chromosome 1, 75724619: 75724619
216 ACADM NM_000016.5(ACADM): c.-169C> T single nucleotide variant Uncertain significance rs886046522 GRCh37 Chromosome 1, 76190304: 76190304
217 ACADM NM_000016.5(ACADM): c.287-10G> C single nucleotide variant Uncertain significance rs368875210 GRCh38 Chromosome 1, 75733518: 75733518
218 ACADM NM_000016.5(ACADM): c.287-10G> C single nucleotide variant Uncertain significance rs368875210 GRCh37 Chromosome 1, 76199203: 76199203
219 ACADM NM_000016.5(ACADM): c.624T> C (p.Asp208=) single nucleotide variant Uncertain significance rs886046523 GRCh38 Chromosome 1, 75745830: 75745830
220 ACADM NM_000016.5(ACADM): c.624T> C (p.Asp208=) single nucleotide variant Uncertain significance rs886046523 GRCh37 Chromosome 1, 76211515: 76211515
221 ACADM NM_000016.5(ACADM): c.994C> T (p.Leu332=) single nucleotide variant Conflicting interpretations of pathogenicity rs138098371 GRCh38 Chromosome 1, 75761170: 75761170
222 ACADM NM_000016.5(ACADM): c.994C> T (p.Leu332=) single nucleotide variant Conflicting interpretations of pathogenicity rs138098371 GRCh37 Chromosome 1, 76226855: 76226855
223 ACADM NM_000016.5(ACADM): c.*133T> C single nucleotide variant Uncertain significance rs193140641 GRCh38 Chromosome 1, 75762896: 75762896
224 ACADM NM_000016.5(ACADM): c.*133T> C single nucleotide variant Uncertain significance rs193140641 GRCh37 Chromosome 1, 76228581: 76228581
225 ACADM NM_000016.5(ACADM): c.-304A> G single nucleotide variant Uncertain significance rs886046521 GRCh38 Chromosome 1, 75724484: 75724484
226 ACADM NM_000016.5(ACADM): c.-304A> G single nucleotide variant Uncertain significance rs886046521 GRCh37 Chromosome 1, 76190169: 76190169
227 ACADM NM_000016.5(ACADM): c.-257G> A single nucleotide variant Likely benign rs17848068 GRCh38 Chromosome 1, 75724531: 75724531
228 ACADM NM_000016.5(ACADM): c.-257G> A single nucleotide variant Likely benign rs17848068 GRCh37 Chromosome 1, 76190216: 76190216
229 ACADM NM_000016.5(ACADM): c.-92A> G single nucleotide variant Uncertain significance rs567983446 GRCh38 Chromosome 1, 75724696: 75724696
230 ACADM NM_000016.5(ACADM): c.-92A> G single nucleotide variant Uncertain significance rs567983446 GRCh37 Chromosome 1, 76190381: 76190381
231 ACADM NM_000016.5(ACADM): c.-50A> T single nucleotide variant Uncertain significance rs753411141 GRCh38 Chromosome 1, 75724738: 75724738
232 ACADM NM_000016.5(ACADM): c.-50A> T single nucleotide variant Uncertain significance rs753411141 GRCh37 Chromosome 1, 76190423: 76190423
233 ACADM NM_000016.5(ACADM): c.*63dupA duplication Uncertain significance rs886046524 GRCh38 Chromosome 1, 75762826: 75762826
234 ACADM NM_000016.5(ACADM): c.*63dupA duplication Uncertain significance rs886046524 GRCh37 Chromosome 1, 76228511: 76228511
235 ACADM NM_000016.5(ACADM): c.*284C> T single nucleotide variant Uncertain significance rs886046525 GRCh38 Chromosome 1, 75763047: 75763047
236 ACADM NM_000016.5(ACADM): c.*284C> T single nucleotide variant Uncertain significance rs886046525 GRCh37 Chromosome 1, 76228732: 76228732
237 ACADM NM_000016.5(ACADM): c.*317C> T single nucleotide variant Uncertain significance rs886046526 GRCh38 Chromosome 1, 75763080: 75763080
238 ACADM NM_000016.5(ACADM): c.*317C> T single nucleotide variant Uncertain significance rs886046526 GRCh37 Chromosome 1, 76228765: 76228765
239 ACADM NM_000016.5(ACADM): c.*773G> A single nucleotide variant Likely benign rs61612438 GRCh38 Chromosome 1, 75763536: 75763536
240 ACADM NM_000016.5(ACADM): c.*773G> A single nucleotide variant Likely benign rs61612438 GRCh37 Chromosome 1, 76229221: 76229221
241 ACADM NM_000016.5(ACADM): c.*825delA deletion Uncertain significance rs886046527 GRCh38 Chromosome 1, 75763588: 75763588
242 ACADM NM_000016.5(ACADM): c.*825delA deletion Uncertain significance rs886046527 GRCh37 Chromosome 1, 76229273: 76229273
243 ACADM NM_000016.5(ACADM): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs1057516778 GRCh37 Chromosome 1, 76190473: 76190473
244 ACADM NM_000016.5(ACADM): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs1057516778 GRCh38 Chromosome 1, 75724788: 75724788
245 ACADM NM_000016.5(ACADM): c.118+1G> T single nucleotide variant Likely pathogenic rs113887538 GRCh37 Chromosome 1, 76194174: 76194174
246 ACADM NM_000016.5(ACADM): c.118+1G> T single nucleotide variant Likely pathogenic rs113887538 GRCh38 Chromosome 1, 75728489: 75728489
247 ACADM NM_000016.5(ACADM): c.173_174delAG (p.Glu58Glyfs) deletion Likely pathogenic rs1057517179 GRCh37 Chromosome 1, 76198383: 76198384
248 ACADM NM_000016.5(ACADM): c.173_174delAG (p.Glu58Glyfs) deletion Likely pathogenic rs1057517179 GRCh38 Chromosome 1, 75732698: 75732699
249 ACADM NM_000016.5(ACADM): c.216+1G> T single nucleotide variant Likely pathogenic rs1057516801 GRCh37 Chromosome 1, 76198427: 76198427
250 ACADM NM_000016.5(ACADM): c.216+1G> T single nucleotide variant Likely pathogenic rs1057516801 GRCh38 Chromosome 1, 75732742: 75732742
251 ACADM NM_000016.5(ACADM): c.224delT (p.Val75Alafs) deletion Likely pathogenic rs1057516480 GRCh37 Chromosome 1, 76198545: 76198545
252 ACADM NM_000016.5(ACADM): c.224delT (p.Val75Alafs) deletion Likely pathogenic rs1057516480 GRCh38 Chromosome 1, 75732860: 75732860
253 ACADM NM_000016.5(ACADM): c.270_271delCA (p.Ile91Serfs) deletion Likely pathogenic rs1057516428 GRCh37 Chromosome 1, 76198591: 76198592
254 ACADM NM_000016.5(ACADM): c.270_271delCA (p.Ile91Serfs) deletion Likely pathogenic rs1057516428 GRCh38 Chromosome 1, 75732906: 75732907
255 ACADM NM_000016.5(ACADM): c.387+1G> A single nucleotide variant Pathogenic rs1057516983 GRCh37 Chromosome 1, 76199314: 76199314
256 ACADM NM_000016.5(ACADM): c.387+1G> A single nucleotide variant Pathogenic rs1057516983 GRCh38 Chromosome 1, 75733629: 75733629
257 ACADM NM_000016.5(ACADM): c.387+1G> T single nucleotide variant Likely pathogenic rs1057516983 GRCh37 Chromosome 1, 76199314: 76199314
258 ACADM NM_000016.5(ACADM): c.387+1G> T single nucleotide variant Likely pathogenic rs1057516983 GRCh38 Chromosome 1, 75733629: 75733629
259 ACADM NM_000016.5(ACADM): c.431_434delAGTA (p.Lys144Ilefs) deletion Pathogenic rs1057517356 GRCh37 Chromosome 1, 76200519: 76200522
260 ACADM NM_000016.5(ACADM): c.431_434delAGTA (p.Lys144Ilefs) deletion Pathogenic rs1057517356 GRCh38 Chromosome 1, 75734834: 75734837
261 ACADM NM_000016.5(ACADM): c.437delT (p.Leu146Trpfs) deletion Likely pathogenic rs1057516842 GRCh37 Chromosome 1, 76200525: 76200525
262 ACADM NM_000016.5(ACADM): c.437delT (p.Leu146Trpfs) deletion Likely pathogenic rs1057516842 GRCh38 Chromosome 1, 75734840: 75734840
263 ACADM NM_000016.5(ACADM): c.599+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs148260275 GRCh37 Chromosome 1, 76205797: 76205797
264 ACADM NM_000016.5(ACADM): c.599+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs148260275 GRCh38 Chromosome 1, 75740112: 75740112
265 ACADM NM_000016.5(ACADM): c.709-1G> A single nucleotide variant Likely pathogenic rs941714381 GRCh37 Chromosome 1, 76215103: 76215103
266 ACADM NM_000016.5(ACADM): c.709-1G> A single nucleotide variant Likely pathogenic rs941714381 GRCh38 Chromosome 1, 75749418: 75749418
267 ACADM NM_000016.5(ACADM): c.949C> T (p.Gln317Ter) single nucleotide variant Likely pathogenic rs1057516564 GRCh37 Chromosome 1, 76226810: 76226810
268 ACADM NM_000016.5(ACADM): c.949C> T (p.Gln317Ter) single nucleotide variant Likely pathogenic rs1057516564 GRCh38 Chromosome 1, 75761125: 75761125
269 ACADM NM_000016.5(ACADM): c.957_958delAT (p.Ser320Ilefs) deletion Likely pathogenic rs1057517103 GRCh37 Chromosome 1, 76226818: 76226819
270 ACADM NM_000016.5(ACADM): c.957_958delAT (p.Ser320Ilefs) deletion Likely pathogenic rs1057517103 GRCh38 Chromosome 1, 75761133: 75761134
271 ACADM NM_000016.5(ACADM): c.959C> A (p.Ser320Ter) single nucleotide variant Likely pathogenic rs1057516485 GRCh38 Chromosome 1, 75761135: 75761135
272 ACADM NM_000016.5(ACADM): c.959C> A (p.Ser320Ter) single nucleotide variant Likely pathogenic rs1057516485 GRCh37 Chromosome 1, 76226820: 76226820
273 ACADM NM_000016.5(ACADM): c.1045delC (p.Arg349Glufs) deletion Likely pathogenic rs1057516463 GRCh38 Chromosome 1, 75761221: 75761221
274 ACADM NM_000016.5(ACADM): c.1045delC (p.Arg349Glufs) deletion Likely pathogenic rs1057516463 GRCh37 Chromosome 1, 76226906: 76226906
275 ACADM NM_000016.5(ACADM): c.1073delA (p.Lys358Argfs) deletion Likely pathogenic rs1057517411 GRCh38 Chromosome 1, 75761249: 75761249
276 ACADM NM_000016.5(ACADM): c.1073delA (p.Lys358Argfs) deletion Likely pathogenic rs1057517411 GRCh37 Chromosome 1, 76226934: 76226934
277 ACADM NM_000016.5(ACADM): c.1114dupG (p.Ala372Glyfs) duplication Pathogenic/Likely pathogenic rs1057516278 GRCh38 Chromosome 1, 75761290: 75761290
278 ACADM NM_000016.5(ACADM): c.1114dupG (p.Ala372Glyfs) duplication Pathogenic/Likely pathogenic rs1057516278 GRCh37 Chromosome 1, 76226975: 76226975
279 ACADM NM_000016.5(ACADM): c.1150G> T (p.Glu384Ter) single nucleotide variant Likely pathogenic rs748110745 GRCh37 Chromosome 1, 76227011: 76227011
280 ACADM NM_000016.5(ACADM): c.1150G> T (p.Glu384Ter) single nucleotide variant Likely pathogenic rs748110745 GRCh38 Chromosome 1, 75761326: 75761326
281 ACADM NM_000016.5(ACADM): c.1195-2A> T single nucleotide variant Likely pathogenic rs879234543 GRCh37 Chromosome 1, 76228375: 76228375
282 ACADM NM_000016.5(ACADM): c.1195-2A> T single nucleotide variant Likely pathogenic rs879234543 GRCh38 Chromosome 1, 75762690: 75762690
283 ACADM NM_000016.5(ACADM): c.287-2A> G single nucleotide variant Pathogenic rs1057518677 GRCh37 Chromosome 1, 76199211: 76199211
284 ACADM NM_000016.5(ACADM): c.287-2A> G single nucleotide variant Pathogenic rs1057518677 GRCh38 Chromosome 1, 75733526: 75733526
285 ACADM NM_000016.5(ACADM): c.989_1010del22 (p.Val330Alafs) deletion Pathogenic GRCh37 Chromosome 1, 76226850: 76226871
286 ACADM NM_000016.5(ACADM): c.989_1010del22 (p.Val330Alafs) deletion Pathogenic GRCh38 Chromosome 1, 75761165: 75761186
287 ACADM NM_000016.5(ACADM): c.425delA (p.Lys142Argfs) deletion Pathogenic GRCh37 Chromosome 1, 76200513: 76200513
288 ACADM NM_000016.5(ACADM): c.425delA (p.Lys142Argfs) deletion Pathogenic GRCh38 Chromosome 1, 75734828: 75734828
289 ACADM NM_000016.5(ACADM): c.1034A> T (p.Asp345Val) single nucleotide variant Uncertain significance rs771978135 GRCh37 Chromosome 1, 76226895: 76226895
290 ACADM NM_000016.5(ACADM): c.1034A> T (p.Asp345Val) single nucleotide variant Uncertain significance rs771978135 GRCh38 Chromosome 1, 75761210: 75761210
291 ACADM NM_000016.5(ACADM): c.1238G> A (p.Arg413His) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 76228420: 76228420
292 ACADM NM_000016.5(ACADM): c.1238G> A (p.Arg413His) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 75762735: 75762735
293 ACADM NM_000016.5(ACADM): c.1257C> A (p.Tyr419Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs753928772 GRCh37 Chromosome 1, 76228439: 76228439
294 ACADM NM_000016.5(ACADM): c.1257C> A (p.Tyr419Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs753928772 GRCh38 Chromosome 1, 75762754: 75762754
295 ACADM NM_000016.5(ACADM): c.913G> T (p.Glu305Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 76216199: 76216199
296 ACADM NM_000016.5(ACADM): c.913G> T (p.Glu305Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 75750514: 75750514
297 ACADM NC_000001.10: g.76205735_76205737delGA deletion Pathogenic GRCh37 Chromosome 1, 76205735: 76205737
298 ACADM NM_000016.5(ACADM): c.253G> T (p.Gly85Cys) single nucleotide variant Uncertain significance rs398123075 GRCh37 Chromosome 1, 76198574: 76198574
299 ACADM NM_000016.5(ACADM): c.253G> T (p.Gly85Cys) single nucleotide variant Uncertain significance rs398123075 GRCh38 Chromosome 1, 75732889: 75732889
300 ACADM NC_000001.11: g.(?_75745786)_(75745934_?)dup duplication Likely pathogenic GRCh38 Chromosome 1, 75745786: 75745934
301 ACADM NC_000001.11: g.(?_75745786)_(75745934_?)dup duplication Likely pathogenic GRCh37 Chromosome 1, 76211471: 76211619
302 ACADM NM_000016.5(ACADM): c.1190A> C (p.Tyr397Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 75761366: 75761366
303 ACADM NM_000016.5(ACADM): c.1190A> C (p.Tyr397Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 76227051: 76227051
304 ACADM NM_000016.5(ACADM): c.47delC (p.Ser16Phefs) deletion Pathogenic GRCh37 Chromosome 1, 76194102: 76194102
305 ACADM NM_000016.5(ACADM): c.47delC (p.Ser16Phefs) deletion Pathogenic GRCh38 Chromosome 1, 75728417: 75728417
306 ACADM NM_000016.5(ACADM): c.351_352delAGinsCA (p.Gly118Arg) indel Uncertain significance GRCh37 Chromosome 1, 76199277: 76199278
307 ACADM NM_000016.5(ACADM): c.351_352delAGinsCA (p.Gly118Arg) indel Uncertain significance GRCh38 Chromosome 1, 75733592: 75733593

Expression for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Search GEO for disease gene expression data for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency.

Pathways for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

GO Terms for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Sources for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

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