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Gene: ETFA (electron transfer flavoprotein subunit alpha) Homo sapiens

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Symbol:

ETFA

Name:

electron transfer flavoprotein subunit alpha

RGD ID:

1342675

HGNC Page

HGNC:3481

Description:

Enables electron transfer activity; flavin adenine dinucleotide binding activity; and oxidoreductase activity. Involved in amino acid catabolic process; fatty acid beta-oxidation using acyl-CoA dehydrogenase; and respiratory electron transport chain. Located in mitochondrion. Part of electron transfer flavoprotein complex. Implicated in multiple acyl-CoA dehydrogenase deficiency.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

alpha-ETF; electron transfer flavoprotein alpha subunit; electron transfer flavoprotein alpha-subunit; electron transfer flavoprotein subunit alpha, mitochondrial; electron transfer flavoprotein, alpha polypeptide; electron-transfer-flavoprotein alpha polypeptide; EMA; GA2; glutaric aciduria II; MADD; multiple acyl-CoA dehydrogenase deficiency

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Etfa (electron transferring flavoprotein, alpha polypeptide)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Etfa (electron transfer flavoprotein subunit alpha)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Etfa (electron transfer flavoprotein subunit alpha)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ETFA (electron transfer flavoprotein subunit alpha)	NCBI	Ortholog
Canis lupus familiaris (dog):	ETFA (electron transfer flavoprotein subunit alpha)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Etfa (electron transfer flavoprotein subunit alpha)	NCBI	Ortholog
Sus scrofa (pig):	ETFA (electron transfer flavoprotein subunit alpha)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	ETFA (electron transfer flavoprotein subunit alpha)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Etfa (electron transfer flavoprotein subunit alpha)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Etfa (electron transfer flavoprotein subunit alpha)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Etfa (electron transferring flavoprotein, alpha polypeptide)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	etfa (electron transfer flavoprotein subunit alpha)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	AIM45	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	F27D4.1	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	wal	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	etfa.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	etfa	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	etfa.S	Alliance	DIOPT (Xenbase)

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	76,215,353 - 76,311,469 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	76,188,555 - 76,311,730 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	76,507,694 - 76,603,810 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	74,295,636 - 74,390,865 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	15	74,295,690 - 74,390,784	NCBI
Celera	15	53,434,725 - 53,530,031 (-)	NCBI		Celera
Cytogenetic Map	15	q24.2-q24.3	NCBI
HuRef	15	53,265,219 - 53,360,736 (-)	NCBI		HuRef
CHM1_1	15	76,628,067 - 76,723,216 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	15	74,086,268 - 74,182,563 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ETFA	Human	Bloom syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Bloom syndrome	ClinVar	PMID:28492532
ETFA	Human	colorectal cancer		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Familial colorectal cancer	ClinVar	PMID:28492532
ETFA	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:16510302 more ...
ETFA	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
ETFA	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
ETFA	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:28492532
ETFA	Human	glutaric acidemia type 3		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Glutaryl-CoA oxidase deficiency	ClinVar	PMID:31690835
ETFA	Human	Glutaric Aciduria 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Glutaric acidemia type 2A	ClinVar	PMID:25741868 and PMID:28492532
ETFA	Human	Glutaric Aciduria 2		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Glutaric acidemia type 2A	ClinVar	PMID:28492532
ETFA	Human	Glutaric Aciduria 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Glutaric acidemia type 2A	ClinVar	PMID:17576681 more ...
ETFA	Human	Glutaric Aciduria 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Glutaric acidemia type 2A	ClinVar	PMID:16510302 and PMID:28492532
ETFA	Human	Glutaric Aciduria 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Glutaric acidemia type 2A	ClinVar	PMID:16510302 more ...
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:28492532
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:16510302 more ...
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:25741868
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:16510302 more ...
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:28492532
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:25741868 and PMID:31268564
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:25741868 and PMID:28492532
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:25741868 more ...
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:17576681 more ...
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:16510302 and PMID:28492532
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:16510302 more ...
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:1430199 and PMID:25741868
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:1430199 more ...
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:17576681 more ...
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:20736750 more ...
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:12815589 more ...
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:12815589 more ...
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:28492532 and PMID:29096039
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:28492532 and PMID:30510944
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:12815589 and PMID:28492532
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:12815589 more ...
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:16510302 more ...
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:16510302 more ...
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:16510302 more ...
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:16199547 more ...
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:16199547 more ...
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:12486872 more ...
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	ClinVar	PMID:28492532
ETFA	Human	PAPA syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: PAPA SYNDROME	ClinVar	PMID:28492532
ETFA	Human	schizophrenia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106 and PMID:30208311

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ETFA	Human	hepatocellular carcinoma		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:21472284
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD
ETFA	Human	osteoarthritis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:18784066

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ETFA	Human	multiple acyl-CoA dehydrogenase deficiency		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ETFA	Human	(+)-schisandrin B	multiple interactions	ISO	Etfa (Rattus norvegicus)	6480464	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of ETFA mRNA]	CTD	PMID:31150632
ETFA	Human	(S)-nicotine	multiple interactions	ISO	Etfa (Mus musculus)	6480464	[Nicotine co-treated with 1-Methyl-4-phenyl-1 more ...	CTD	PMID:20230807
ETFA	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Etfa (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of ETFA mRNA	CTD	PMID:22206623
ETFA	Human	1,2-dimethylhydrazine	decreases expression	ISO	Etfa (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in decreased expression of ETFA mRNA	CTD	PMID:22206623
ETFA	Human	1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine	decreases expression	ISO	Etfa (Mus musculus)	6480464	1-Methyl-4-phenyl-1 more ...	CTD	PMID:20230807
ETFA	Human	1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine	multiple interactions	ISO	Etfa (Mus musculus)	6480464	[Nicotine co-treated with 1-Methyl-4-phenyl-1 more ...	CTD	PMID:20230807
ETFA	Human	17beta-estradiol	decreases expression	ISO	Etfa (Mus musculus)	6480464	Estradiol results in decreased expression of ETFA mRNA	CTD	PMID:39298647
ETFA	Human	2,2',4,4'-Tetrabromodiphenyl ether	decreases expression	EXP		6480464	2 more ...	CTD	PMID:31675489
ETFA	Human	2,2,2-tetramine	multiple interactions	ISO	Etfa (Rattus norvegicus)	6480464	Trientine inhibits the reaction [Streptozocin results in decreased expression of ETFA protein]	CTD	PMID:19634143
ETFA	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Etfa (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of ETFA mRNA	CTD	PMID:21215274 and PMID:34747641
ETFA	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Etfa (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of ETFA mRNA	CTD	PMID:21570461
ETFA	Human	2,4-dibromophenyl 2,4,5-tribromophenyl ether	affects expression	ISO	Etfa (Mus musculus)	6480464	2 more ...	CTD	PMID:38648751
ETFA	Human	2,6-dimethoxyphenol	multiple interactions	EXP		6480464	[Sodium Chloride co-treated with pyrogallol 1 and 3-dimethyl ether] results in decreased expression of and affects the localization of ETFA protein	CTD	PMID:38598786
ETFA	Human	3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine	decreases expression	ISO	Etfa (Rattus norvegicus)	6480464	Puromycin Aminonucleoside results in decreased expression of ETFA protein	CTD	PMID:19264907
ETFA	Human	3-isobutyl-1-methyl-7H-xanthine	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of ETFA mRNA	CTD	PMID:28628672
ETFA	Human	3H-1,2-dithiole-3-thione	decreases expression	ISO	Etfa (Rattus norvegicus)	6480464	1 and 2-dithiol-3-thione results in decreased expression of ETFA mRNA	CTD	PMID:19162173
ETFA	Human	4,4'-sulfonyldiphenol	increases expression	ISO	Etfa (Mus musculus)	6480464	bisphenol S results in increased expression of ETFA mRNA	CTD	PMID:39298647
ETFA	Human	acetamide	decreases expression	ISO	Etfa (Rattus norvegicus)	6480464	acetamide results in decreased expression of ETFA mRNA	CTD	PMID:31881176
ETFA	Human	acrolein	multiple interactions	EXP		6480464	[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in increased expression of ETFA mRNA and [Air Pollutants results in increased abundance of [Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone]] which results in increased expression of ETFA mRNA	CTD	PMID:32699268
ETFA	Human	actinomycin D	multiple interactions	EXP		6480464	[Dactinomycin co-treated with nutlin 3] results in increased secretion of ETFA protein	CTD	PMID:38460933
ETFA	Human	aflatoxin B1	increases methylation	EXP		6480464	Aflatoxin B1 results in increased methylation of ETFA intron	CTD	PMID:30157460
ETFA	Human	alpha-pinene	multiple interactions	EXP		6480464	[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in increased expression of ETFA mRNA and [Air Pollutants results in increased abundance of [Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone]] which results in increased expression of ETFA mRNA	CTD	PMID:32699268
ETFA	Human	ammonium chloride	affects expression	ISO	Etfa (Rattus norvegicus)	6480464	Ammonium Chloride affects the expression of ETFA mRNA	CTD	PMID:16483693
ETFA	Human	ampicillin	multiple interactions	ISO	Etfa (Rattus norvegicus)	6480464	[Ampicillin co-treated with Neomycin co-treated with Gentamicins co-treated with Metronidazole co-treated with Vancomycin] results in increased expression of ETFA protein	CTD	PMID:30545405
ETFA	Human	anthra[1,9-cd]pyrazol-6(2H)-one	multiple interactions	EXP		6480464	pyrazolanthrone inhibits the reaction [tert-Butylhydroperoxide results in increased expression of ETFA protein]	CTD	PMID:24394546
ETFA	Human	aristolochic acid A	increases expression	EXP		6480464	aristolochic acid I results in increased expression of ETFA protein	CTD	PMID:33212167
ETFA	Human	Aroclor 1254	decreases expression	ISO	Etfa (Mus musculus)	6480464	Chlorodiphenyl (54% Chlorine) results in decreased expression of ETFA mRNA	CTD	PMID:23650126
ETFA	Human	arsenite(3-)	multiple interactions	EXP		6480464	arsenite promotes the reaction [G3BP1 protein binds to ETFA mRNA]	CTD	PMID:32406909
ETFA	Human	arsenous acid	increases expression	EXP		6480464	Arsenic Trioxide results in increased expression of ETFA mRNA and Arsenic Trioxide results in increased expression of ETFA protein	CTD	PMID:22521957 and PMID:25419056
ETFA	Human	arsenous acid	increases expression	ISO	Etfa (Mus musculus)	6480464	Arsenic Trioxide results in increased expression of ETFA mRNA	CTD	PMID:35676786
ETFA	Human	atrazine	increases expression	EXP		6480464	Atrazine results in increased expression of ETFA mRNA	CTD	PMID:22378314
ETFA	Human	benzo[a]pyrene	multiple interactions	ISO	Etfa (Mus musculus)	6480464	AHR protein affects the reaction [Benzo(a)pyrene affects the expression of ETFA mRNA]	CTD	PMID:22228805
ETFA	Human	benzo[a]pyrene	decreases expression	EXP		6480464	Benzo(a)pyrene results in decreased expression of ETFA mRNA and Benzo(a)pyrene results in decreased expression of ETFA protein	CTD	PMID:32234424 and PMID:33278487
ETFA	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of ETFA promoter	CTD	PMID:27901495
ETFA	Human	benzo[a]pyrene	increases expression	ISO	Etfa (Mus musculus)	6480464	Benzo(a)pyrene results in increased expression of ETFA mRNA	CTD	PMID:20127859 and PMID:22228805
ETFA	Human	benzo[e]pyrene	increases methylation	EXP		6480464	benzo(e)pyrene results in increased methylation of ETFA intron	CTD	PMID:30157460
ETFA	Human	beta-lapachone	increases expression	EXP		6480464	beta-lapachone results in increased expression of ETFA mRNA	CTD	PMID:38218311
ETFA	Human	bisphenol A	increases expression	ISO	Etfa (Rattus norvegicus)	6480464	bisphenol A results in increased expression of ETFA mRNA	CTD	PMID:25181051
ETFA	Human	bisphenol A	multiple interactions	EXP		6480464	[[ginger extract results in increased abundance of Oils and Volatile] which co-treated with bisphenol A] affects the expression of ETFA protein	CTD	PMID:33376534
ETFA	Human	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of ETFA protein	CTD	PMID:37567409
ETFA	Human	bisphenol A	decreases expression	ISO	Etfa (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of ETFA mRNA	CTD	PMID:34947998
ETFA	Human	bisphenol A	affects expression	EXP		6480464	bisphenol A affects the expression of ETFA mRNA	CTD	PMID:30903817
ETFA	Human	bisphenol A	increases expression	ISO	Etfa (Mus musculus)	6480464	bisphenol A results in increased expression of ETFA mRNA and bisphenol A results in increased expression of ETFA protein	CTD	PMID:24909818 and PMID:33221593
ETFA	Human	bisphenol A	decreases expression	ISO	Etfa (Mus musculus)	6480464	bisphenol A results in decreased expression of ETFA protein	CTD	PMID:24909818
ETFA	Human	bisphenol AF	increases expression	EXP		6480464	bisphenol AF results in increased expression of ETFA protein	CTD	PMID:34186270
ETFA	Human	Bisphenol B	increases expression	EXP		6480464	bisphenol B results in increased expression of ETFA protein	CTD	PMID:34186270
ETFA	Human	bisphenol F	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of ETFA mRNA	CTD	PMID:28628672
ETFA	Human	bisphenol F	increases expression	EXP		6480464	bisphenol F results in increased expression of ETFA protein	CTD	PMID:34186270
ETFA	Human	cadmium dichloride	decreases expression	ISO	Etfa (Rattus norvegicus)	6480464	Cadmium Chloride results in decreased expression of ETFA protein	CTD	PMID:22081424
ETFA	Human	caffeine	decreases phosphorylation	EXP		6480464	Caffeine results in decreased phosphorylation of ETFA protein	CTD	PMID:35688186
ETFA	Human	capsaicin	multiple interactions	ISO	Etfa (Rattus norvegicus)	6480464	Capsaicin inhibits the reaction [Dietary Fats results in decreased expression of ETFA protein]	CTD	PMID:20359164
ETFA	Human	carbon nanotube	multiple interactions	ISO	Etfa (Mus musculus)	6480464	[Nanotubes and Carbon co-treated with Polyethylene Glycols] results in increased expression of ETFA protein	CTD	PMID:28807745
ETFA	Human	chloropicrin	affects expression	EXP		6480464	chloropicrin affects the expression of ETFA mRNA	CTD	PMID:26352163
ETFA	Human	choline	multiple interactions	ISO	Etfa (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of ETFA gene	CTD	PMID:20938992
ETFA	Human	clofibrate	increases expression	ISO	Etfa (Rattus norvegicus)	6480464	Clofibrate results in increased expression of ETFA protein	CTD	PMID:16470657
ETFA	Human	clofibric acid	affects expression	ISO	Etfa (Rattus norvegicus)	6480464	Clofibric Acid affects the expression of ETFA mRNA	CTD	PMID:17602206
ETFA	Human	cocaine	affects expression	ISO	Etfa (Rattus norvegicus)	6480464	Cocaine affects the expression of ETFA mRNA	CTD	PMID:20187946
ETFA	Human	crocidolite asbestos	increases expression	EXP		6480464	Asbestos and Crocidolite results in increased expression of ETFA mRNA	CTD	PMID:29523930
ETFA	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of ETFA mRNA	CTD	PMID:20106945
ETFA	Human	cyclosporin A	decreases expression	ISO	Etfa (Mus musculus)	6480464	Cyclosporine results in decreased expression of ETFA mRNA	CTD	PMID:19770486
ETFA	Human	cyproconazole	decreases expression	ISO	Etfa (Mus musculus)	6480464	cyproconazole results in decreased expression of ETFA mRNA	CTD	PMID:22334560
ETFA	Human	dexamethasone	decreases expression	ISO	Etfa (Mus musculus)	6480464	Dexamethasone results in decreased expression of ETFA protein	CTD	PMID:33567340
ETFA	Human	dexamethasone	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of ETFA mRNA	CTD	PMID:28628672
ETFA	Human	diarsenic trioxide	increases expression	EXP		6480464	Arsenic Trioxide results in increased expression of ETFA mRNA and Arsenic Trioxide results in increased expression of ETFA protein	CTD	PMID:22521957 and PMID:25419056
ETFA	Human	diarsenic trioxide	increases expression	ISO	Etfa (Mus musculus)	6480464	Arsenic Trioxide results in increased expression of ETFA mRNA	CTD	PMID:35676786
ETFA	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of ETFA mRNA	CTD	PMID:37042841
ETFA	Human	dibutyl phthalate	decreases expression	ISO	Etfa (Mus musculus)	6480464	Dibutyl Phthalate results in decreased expression of ETFA mRNA	CTD	PMID:17361019
ETFA	Human	dicrotophos	decreases expression	EXP		6480464	dicrotophos results in decreased expression of ETFA mRNA	CTD	PMID:28302478
ETFA	Human	doxorubicin	decreases expression	ISO	Etfa (Mus musculus)	6480464	Doxorubicin results in decreased expression of ETFA mRNA	CTD	PMID:26873546
ETFA	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of ETFA mRNA	CTD	PMID:29803840
ETFA	Human	epoxiconazole	decreases expression	ISO	Etfa (Mus musculus)	6480464	epoxiconazole results in decreased expression of ETFA mRNA	CTD	PMID:22334560
ETFA	Human	ethanol	affects splicing	ISO	Etfa (Mus musculus)	6480464	Ethanol affects the splicing of ETFA mRNA	CTD	PMID:30319688
ETFA	Human	fenofibrate	increases expression	EXP		6480464	Fenofibrate results in increased expression of ETFA mRNA	CTD	PMID:25572481
ETFA	Human	fenvalerate	increases expression	ISO	Etfa (Rattus norvegicus)	6480464	fenvalerate results in increased expression of ETFA protein	CTD	PMID:33656234
ETFA	Human	folic acid	multiple interactions	ISO	Etfa (Mus musculus)	6480464	[1 more ...	CTD	PMID:20938992 and PMID:22206623
ETFA	Human	furan	affects binding	ISO	Etfa (Rattus norvegicus)	6480464	furan binds to ETFA protein	CTD	PMID:22240984
ETFA	Human	furfural	multiple interactions	EXP		6480464	[Sodium Chloride co-treated with Furaldehyde] results in increased expression of and affects the localization of ETFA protein	CTD	PMID:38598786
ETFA	Human	gentamycin	increases expression	ISO	Etfa (Rattus norvegicus)	6480464	Gentamicins results in increased expression of ETFA mRNA	CTD	PMID:22061828
ETFA	Human	gentamycin	multiple interactions	ISO	Etfa (Rattus norvegicus)	6480464	[Ampicillin co-treated with Neomycin co-treated with Gentamicins co-treated with Metronidazole co-treated with Vancomycin] results in increased expression of ETFA protein	CTD	PMID:30545405
ETFA	Human	indometacin	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of ETFA mRNA	CTD	PMID:28628672
ETFA	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of ETFA protein	CTD	PMID:32959892
ETFA	Human	L-methionine	multiple interactions	ISO	Etfa (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of ETFA gene	CTD	PMID:20938992
ETFA	Human	lipopolysaccharide	multiple interactions	EXP		6480464	[Acetaminophen co-treated with Lipopolysaccharides] results in decreased expression of ETFA mRNA	CTD	PMID:31059760
ETFA	Human	lipopolysaccharide	decreases expression	EXP		6480464	Lipopolysaccharides results in decreased expression of ETFA mRNA	CTD	PMID:31059760
ETFA	Human	methapyrilene	increases methylation	EXP		6480464	Methapyrilene results in increased methylation of ETFA intron	CTD	PMID:30157460
ETFA	Human	metronidazole	multiple interactions	ISO	Etfa (Rattus norvegicus)	6480464	[Ampicillin co-treated with Neomycin co-treated with Gentamicins co-treated with Metronidazole co-treated with Vancomycin] results in increased expression of ETFA protein	CTD	PMID:30545405
ETFA	Human	N-nitrosomorpholine	increases expression	ISO	Etfa (Rattus norvegicus)	6480464	N-nitrosomorpholine results in increased expression of ETFA protein	CTD	PMID:19716841
ETFA	Human	n-propyl gallate	affects expression	ISO	Etfa (Rattus norvegicus)	6480464	Propyl Gallate affects the expression of ETFA mRNA	CTD	PMID:18539377
ETFA	Human	neomycin	multiple interactions	ISO	Etfa (Rattus norvegicus)	6480464	[Ampicillin co-treated with Neomycin co-treated with Gentamicins co-treated with Metronidazole co-treated with Vancomycin] results in increased expression of ETFA protein	CTD	PMID:30545405
ETFA	Human	nicotine	multiple interactions	ISO	Etfa (Mus musculus)	6480464	[Nicotine co-treated with 1-Methyl-4-phenyl-1 more ...	CTD	PMID:20230807
ETFA	Human	nitrates	multiple interactions	ISO	Etfa (Mus musculus)	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of ETFA mRNA	CTD	PMID:35964746
ETFA	Human	Nutlin-3	multiple interactions	EXP		6480464	[Dactinomycin co-treated with nutlin 3] results in increased secretion of ETFA protein	CTD	PMID:38460933
ETFA	Human	oxaliplatin	decreases expression	EXP		6480464	oxaliplatin results in decreased expression of ETFA mRNA	CTD	PMID:17762391
ETFA	Human	ozone	multiple interactions	EXP		6480464	[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in increased expression of ETFA mRNA more ...	CTD	PMID:32699268 and PMID:35430440
ETFA	Human	paracetamol	affects expression	ISO	Etfa (Mus musculus)	6480464	Acetaminophen affects the expression of ETFA mRNA	CTD	PMID:17562736
ETFA	Human	paracetamol	decreases expression	EXP		6480464	Acetaminophen results in decreased expression of ETFA mRNA	CTD	PMID:29067470
ETFA	Human	paracetamol	multiple interactions	EXP		6480464	[Acetaminophen co-treated with Lipopolysaccharides] results in decreased expression of ETFA mRNA	CTD	PMID:31059760
ETFA	Human	perfluorooctanoic acid	increases expression	EXP		6480464	perfluorooctanoic acid results in increased expression of ETFA mRNA	CTD	PMID:37738295 and PMID:38199259
ETFA	Human	pirinixic acid	multiple interactions	EXP		6480464	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of ETFA mRNA	CTD	PMID:19710929
ETFA	Human	pirinixic acid	increases expression	ISO	Etfa (Mus musculus)	6480464	pirinixic acid results in increased expression of ETFA mRNA	CTD	PMID:17426115
ETFA	Human	pirinixic acid	increases expression	ISO	Etfa (Rattus norvegicus)	6480464	pirinixic acid results in increased expression of ETFA mRNA	CTD	PMID:19162173
ETFA	Human	propiconazole	decreases expression	ISO	Etfa (Mus musculus)	6480464	propiconazole results in decreased expression of ETFA mRNA	CTD	PMID:22334560
ETFA	Human	resveratrol	increases expression	ISO	Etfa (Mus musculus)	6480464	resveratrol results in increased expression of ETFA protein	CTD	PMID:25505154
ETFA	Human	resveratrol	multiple interactions	EXP		6480464	[Plant Extracts co-treated with Resveratrol] results in increased expression of ETFA mRNA	CTD	PMID:23557933
ETFA	Human	rotenone	decreases expression	EXP		6480464	Rotenone results in decreased expression of ETFA mRNA	CTD	PMID:33512557
ETFA	Human	rotenone	increases expression	ISO	Etfa (Rattus norvegicus)	6480464	Rotenone results in increased expression of ETFA protein	CTD	PMID:35544339
ETFA	Human	SB 431542	multiple interactions	EXP		6480464	[LDN 193189 co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide co-treated with FGF2 protein] results in increased expression of ETFA protein	CTD	PMID:37664457
ETFA	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of ETFA protein	CTD	PMID:15725613
ETFA	Human	sodium arsenite	increases expression	ISO	Etfa (Rattus norvegicus)	6480464	sodium arsenite results in increased expression of ETFA protein	CTD	PMID:29459688
ETFA	Human	sodium chloride	multiple interactions	EXP		6480464	[Sodium Chloride co-treated with Furaldehyde] results in increased expression of and affects the localization of ETFA protein more ...	CTD	PMID:38598786
ETFA	Human	streptozocin	decreases expression	ISO	Etfa (Rattus norvegicus)	6480464	Streptozocin results in decreased expression of ETFA protein	CTD	PMID:19634143
ETFA	Human	streptozocin	multiple interactions	ISO	Etfa (Rattus norvegicus)	6480464	Trientine inhibits the reaction [Streptozocin results in decreased expression of ETFA protein]	CTD	PMID:19634143
ETFA	Human	sulforaphane	increases expression	ISO	Etfa (Mus musculus)	6480464	sulforaphane results in increased expression of ETFA mRNA	CTD	PMID:30529165
ETFA	Human	sunitinib	decreases expression	EXP		6480464	Sunitinib results in decreased expression of ETFA mRNA	CTD	PMID:31533062
ETFA	Human	tert-butyl hydroperoxide	multiple interactions	EXP		6480464	ETFA mutant form inhibits the reaction [tert-Butylhydroperoxide promotes the reaction [ERN1 protein binds to TRAF2 protein]] more ...	CTD	PMID:24394546
ETFA	Human	tert-butyl hydroperoxide	increases expression	ISO	Etfa (Rattus norvegicus)	6480464	tert-Butylhydroperoxide results in increased expression of ETFA protein	CTD	PMID:24394546
ETFA	Human	tert-butyl hydroperoxide	increases expression	EXP		6480464	tert-Butylhydroperoxide results in increased expression of ETFA protein	CTD	PMID:24394546
ETFA	Human	tert-butyl hydroperoxide	decreases expression	ISO	Etfa (Rattus norvegicus)	6480464	tert-Butylhydroperoxide results in decreased expression of ETFA protein	CTD	PMID:24394546
ETFA	Human	tetrachloromethane	multiple interactions	ISO	Etfa (Rattus norvegicus)	6480464	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of ETFA mRNA]	CTD	PMID:31150632
ETFA	Human	tetrachloromethane	decreases expression	ISO	Etfa (Mus musculus)	6480464	Carbon Tetrachloride results in decreased expression of ETFA mRNA	CTD	PMID:31919559
ETFA	Human	tetrachloromethane	decreases expression	ISO	Etfa (Rattus norvegicus)	6480464	Carbon Tetrachloride results in decreased expression of ETFA mRNA	CTD	PMID:31150632
ETFA	Human	thioacetamide	decreases expression	ISO	Etfa (Rattus norvegicus)	6480464	Thioacetamide results in decreased expression of ETFA mRNA	CTD	PMID:34492290
ETFA	Human	titanium dioxide	decreases methylation	ISO	Etfa (Mus musculus)	6480464	titanium dioxide results in decreased methylation of ETFA gene	CTD	PMID:35295148
ETFA	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of ETFA mRNA	CTD	PMID:37042841
ETFA	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of ETFA gene	CTD	PMID:29154799
ETFA	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of ETFA mRNA	CTD	PMID:25979313
ETFA	Human	vancomycin	multiple interactions	ISO	Etfa (Rattus norvegicus)	6480464	[Ampicillin co-treated with Neomycin co-treated with Gentamicins co-treated with Metronidazole co-treated with Vancomycin] results in increased expression of ETFA protein	CTD	PMID:30545405
ETFA	Human	vorinostat	increases expression	EXP		6480464	vorinostat results in increased expression of ETFA protein	CTD	PMID:17593366

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ETFA	Human	amino acid catabolic process	involved_in	IDA		150520179	PMID:25416781	ComplexPortal	PMID:25416781
ETFA	Human	fatty acid beta-oxidation using acyl-CoA dehydrogenase	involved_in	IDA		150520179	PMID:25416781	UniProt	PMID:25416781
ETFA	Human	fatty acid beta-oxidation using acyl-CoA dehydrogenase	involved_in	IBA	PANTHER:PTN000097951 and UniProtKB:P13804	150520179		GO_Central	GO_REF:0000033
ETFA	Human	respiratory electron transport chain	involved_in	IDA		150520179	PMID:25416781	ComplexPortal	PMID:25416781

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ETFA	Human	electron transfer flavoprotein complex	part_of	IPI		150520179	PMID:8962055	ComplexPortal	PMID:8962055
ETFA	Human	mitochondrial matrix	located_in	NAS		150520179	PMID:8504797	ComplexPortal	PMID:8504797
ETFA	Human	mitochondrial matrix	located_in	IEA	UniProtKB-SubCell:SL-0170	150520179		UniProt	GO_REF:0000044
ETFA	Human	mitochondrial matrix	located_in	TAS		150520179	PMID:8617498	Reactome	PMID:8617498 more ...
ETFA	Human	mitochondrial matrix	located_in	IEA	UniRule:UR001303799	150520179		UniProt	GO_REF:0000104
ETFA	Human	mitochondrion	located_in	HDA		150520179	PMID:20833797	UniProt	PMID:20833797
ETFA	Human	mitochondrion	is_active_in	IBA	PANTHER:PTN000097952 more ...	150520179		GO_Central	GO_REF:0000033
ETFA	Human	mitochondrion	located_in	IEA	UniProtKB-KW:KW-0496	150520179		UniProt	GO_REF:0000043
ETFA	Human	mitochondrion	located_in	IDA		150520179		HPA	GO_REF:0000052
ETFA	Human	mitochondrion	located_in	HTP		150520179	PMID:34800366	FlyBase	PMID:34800366
ETFA	Human	mitochondrion	located_in	TAS		150520179	PMID:3170610	PINC	PMID:3170610

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ETFA	Human	electron transfer activity	enables	IDA		150520179	PMID:10423253 and PMID:25416781	UniProt	PMID:10423253 and PMID:25416781
ETFA	Human	electron transfer activity	enables	IBA	PANTHER:PTN000097951 and UniProtKB:P13804	150520179		GO_Central	GO_REF:0000033
ETFA	Human	electron transfer activity	enables	IEA	InterPro:IPR001308	150520179		InterPro	GO_REF:0000002
ETFA	Human	flavin adenine dinucleotide binding	enables	IEA	InterPro:IPR001308	150520179		InterPro	GO_REF:0000002
ETFA	Human	flavin adenine dinucleotide binding	enables	IBA	PANTHER:PTN000097951 and UniProtKB:P13804	150520179		GO_Central	GO_REF:0000033
ETFA	Human	flavin adenine dinucleotide binding	enables	IDA		150520179	PMID:10423253 and PMID:9334218	UniProt	PMID:10423253 and PMID:9334218
ETFA	Human	oxidoreductase activity	enables	IDA		150520179	PMID:10423253 and PMID:9334218	UniProt	PMID:10423253 and PMID:9334218
ETFA	Human	protein binding	enables	IPI	UniProtKB:P38117	150520179	PMID:27499296 and PMID:33961781	IntAct	PMID:27499296 and PMID:33961781
ETFA	Human	protein binding	enables	IPI	UniProtKB:P13569	150520179	PMID:26618866 more ...	IntAct	PMID:26618866 more ...
ETFA	Human	protein binding	enables	IPI	UniProtKB:Q8IWL3	150520179	PMID:24606901 and PMID:28380382	IntAct	PMID:24606901 and PMID:28380382
ETFA	Human	protein binding	enables	IPI	UniProtKB:Q6IPR1	150520179	PMID:27499296	UniProt	PMID:27499296

RGD Manual Annotations

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ETFA	Human	fatty acid beta degradation pathway		TAS		2317589		RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ETFA	Human	Abnormal facial shape		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Abnormal pinna morphology		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Abnormality of the genital system		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Acidosis		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Depressed nasal bridge		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Developmental cataract		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Electron transfer flavoprotein-ubiquinone oxidoreductase defect		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Elevated circulating glutaric acid concentration		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Elevated urinary 5-hydroxyhexanoic acid level		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Ethylmalonic aciduria		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Generalized aminoaciduria		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Gliosis		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Glutaric aciduria		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Glycosuria		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Hepatic periportal necrosis		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Hepatic steatosis		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Hepatomegaly		IAGP		8699517		HPO	MIM:231680
ETFA	Human	High forehead		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Hypoglycemia		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Hypoglycemic coma		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Hypotonia		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Jaundice		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Macrocephaly		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Muscle weakness		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Nausea		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Neonatal death		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Pachygyria		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Polycystic kidney dysplasia		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Proximal tubulopathy		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Pulmonary hypoplasia		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Renal cortical cysts		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Respiratory distress		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Telecanthus		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Vomiting		IAGP		8699517		HPO	MIM:231680
ETFA	Human	Wide anterior fontanel		IAGP		8699517		HPO	MIM:231680

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ETFA	Human	Schizophrenia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106 and PMID:30208311

#	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.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
6.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

PMID:1430199	PMID:1882842	PMID:3053288	PMID:3170610	PMID:7821789	PMID:8504797	PMID:8617498	PMID:8962055	PMID:9334218	PMID:10356313	PMID:10423253	PMID:10527805
PMID:11756429	PMID:12477932	PMID:12815589	PMID:15489334	PMID:16344560	PMID:16510302	PMID:17081983	PMID:17314511	PMID:17689999	PMID:18029348	PMID:18624398	PMID:19208393
PMID:20186120	PMID:20562859	PMID:20674745	PMID:20833797	PMID:20877624	PMID:21081666	PMID:21219902	PMID:21308847	PMID:21873635	PMID:21901101	PMID:22491018	PMID:22863883
PMID:22939629	PMID:23376485	PMID:23874603	PMID:24394546	PMID:24606901	PMID:24711643	PMID:25416781	PMID:25921289	PMID:26186194	PMID:26344197	PMID:26465331	PMID:26496610
PMID:26618866	PMID:26638075	PMID:26839216	PMID:26871637	PMID:27342126	PMID:27499296	PMID:27609421	PMID:27684187	PMID:28302793	PMID:28320150	PMID:28380382	PMID:28514442
PMID:28533407	PMID:28675297	PMID:28718761	PMID:28973437	PMID:29117863	PMID:29128334	PMID:29301933	PMID:29331416	PMID:29395067	PMID:29507755	PMID:29509190	PMID:29509794
PMID:29568061	PMID:29987050	PMID:30194290	PMID:30463901	PMID:30575818	PMID:30833792	PMID:30948266	PMID:30997501	PMID:31091453	PMID:31182584	PMID:31418342	PMID:31536960
PMID:31560077	PMID:31586073	PMID:31617661	PMID:31620119	PMID:31665600	PMID:31839598	PMID:31871319	PMID:31996215	PMID:32353859	PMID:32550677	PMID:32628020	PMID:32687490
PMID:32694731	PMID:32707033	PMID:32877691	PMID:32905556	PMID:32913203	PMID:32963011	PMID:33022573	PMID:33024031	PMID:33060197	PMID:33567341	PMID:33729478	PMID:33762435
PMID:33916271	PMID:33957083	PMID:33961781	PMID:34079125	PMID:34405537	PMID:34428256	PMID:34704421	PMID:34709727	PMID:34800366	PMID:34901782	PMID:35063084	PMID:35156780
PMID:35205757	PMID:35256949	PMID:35439318	PMID:35446349	PMID:35562734	PMID:35563538	PMID:35831314	PMID:35944360	PMID:36012204	PMID:36042349	PMID:36057605	PMID:36114006
PMID:36147463	PMID:36215168	PMID:36244648	PMID:36273042	PMID:36517590	PMID:36575184	PMID:37223481	PMID:37314216	PMID:37317656	PMID:37609425	PMID:37689310	PMID:37768083
PMID:37827155	PMID:38556340	PMID:39147351	PMID:39422127

ETFA
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	15	76,215,353 - 76,311,469 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	15	76,188,555 - 76,311,730 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	15	76,507,694 - 76,603,810 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	15	74,295,636 - 74,390,865 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	15	74,295,690 - 74,390,784	NCBI
Celera	15	53,434,725 - 53,530,031 (-)	NCBI		Celera
Cytogenetic Map	15	q24.2-q24.3	NCBI
HuRef	15	53,265,219 - 53,360,736 (-)	NCBI		HuRef
CHM1_1	15	76,628,067 - 76,723,216 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	15	74,086,268 - 74,182,563 (-)	NCBI		T2T-CHM13v2.0

Etfa
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	55,361,720 - 55,419,528 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	55,361,792 - 55,419,527 (-)	Ensembl		GRCm39 Ensembl
GRCm38	9	55,454,436 - 55,512,243 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	55,454,508 - 55,512,243 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	55,302,243 - 55,360,050 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	9	55,252,660 - 55,310,380 (-)	NCBI		MGSCv36	mm8
Celera	9	52,696,302 - 52,754,125 (-)	NCBI		Celera
Cytogenetic Map	9	B	NCBI
cM Map	9	30.13	NCBI

Etfa
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	8	64,731,192 - 64,787,965 (-)	NCBI		GRCr8
mRatBN7.2	8	55,835,115 - 55,891,890 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	55,835,134 - 55,891,969 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	8	61,377,604 - 61,434,383 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	8	59,656,602 - 59,713,381 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	8	57,520,835 - 57,577,614 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	8	60,028,786 - 60,086,352 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	60,028,789 - 60,086,403 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	8	58,608,416 - 58,665,383 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	59,013,798 - 59,072,013 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	8	59,032,895 - 59,091,022 (-)	NCBI
Celera	8	55,318,874 - 55,375,436 (-)	NCBI		Celera
Cytogenetic Map	8	q24	NCBI

Etfa
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955450	1,392,479 - 1,451,591 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955450	1,392,526 - 1,451,591 (-)	NCBI	ChiLan1.0	ChiLan1.0

ETFA
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	16	65,413,801 - 65,512,497 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	15	69,578,211 - 69,676,833 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	15	55,128,686 - 55,227,369 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	15	74,720,198 - 74,818,494 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	15	74,720,198 - 74,818,494 (-)	Ensembl	panpan1.1		panPan2

ETFA
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	30	39,848,241 - 39,925,809 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	30	39,848,270 - 39,964,823 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	30	39,707,332 - 39,784,202 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	30	40,052,278 - 40,129,606 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	30	40,052,340 - 40,129,601 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	30	40,001,191 - 40,078,170 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	30	40,047,242 - 40,124,599 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	30	40,285,034 - 40,362,157 (+)	NCBI		UU_Cfam_GSD_1.0

Etfa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024408640	118,020,782 - 118,094,606 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936471	35,868,757 - 35,943,139 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936471	35,868,851 - 35,942,662 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ETFA
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	7	56,450,520 - 56,540,253 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	7	56,450,508 - 56,540,275 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	7	60,946,251 - 61,036,017 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ETFA
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	26	6,970,593 - 7,075,077 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	26	6,970,584 - 7,076,049 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666048	134,642,527 - 134,750,547 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Etfa
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624894	1,874,695 - 1,936,120 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624894	1,874,859 - 1,935,587 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in ETFA
527 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
ETFA, 3-BP DEL, NT808	deletion	Glutaric acidemia IIa [RCV000002714]	Chr15:15q23-q25	pathogenic
NM_000126.4(ETFA):c.963+1del	deletion	Glutaric acidemia IIa [RCV000002715]\|Multiple acyl-CoA dehydrogenase deficiency [RCV002496235]\|not specified [RCV003155011]	Chr15:76225848 [GRCh38] Chr15:76518189 [GRCh37] Chr15:15q24.2	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000126.4(ETFA):c.817-32A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001526776]\|not provided [RCV001692437]	Chr15:76231430 [GRCh38] Chr15:76523771 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.733+38T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001526777]\|not provided [RCV004715477]	Chr15:76283719 [GRCh38] Chr15:76576060 [GRCh37] Chr15:15q24.2	benign
GRCh38/hg38 15q24.2-26.3(chr15:75307767-101723215)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052346]\|See cases [RCV000052346]	Chr15:75307767..101723215 [GRCh38] Chr15:75600108..102263418 [GRCh37] Chr15:73387161..100080941 [NCBI36] Chr15:15q24.2-26.3	pathogenic
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000377415]\|not provided [RCV000676979]\|not specified [RCV000078134]	Chr15:76286421 [GRCh38] Chr15:76286421..76286422 [GRCh38] Chr15:76578762 [GRCh37] Chr15:76578762..76578763 [GRCh37] Chr15:15q24.2	benign\|likely benign
NM_000126.4(ETFA):c.470T>G (p.Val157Gly)	single nucleotide variant	Glutaric acidemia IIa [RCV000002711]\|Multiple acyl-CoA dehydrogenase deficiency [RCV002281690]	Chr15:76286463 [GRCh38] Chr15:76578804 [GRCh37] Chr15:15q24.2	pathogenic\|likely pathogenic
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)	single nucleotide variant	ETFA-related disorder [RCV003904798]\|Glutaric acidemia IIa [RCV000002712]\|Multiple acyl-CoA dehydrogenase deficiency [RCV000332032]\|not provided [RCV000185868]	Chr15:76274431 [GRCh38] Chr15:76566772 [GRCh37] Chr15:15q24.2	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_000126.4(ETFA):c.346G>A (p.Gly116Arg)	single nucleotide variant	Glutaric acidemia IIa [RCV000002713]\|Multiple acyl-CoA dehydrogenase deficiency [RCV003472959]	Chr15:76292436 [GRCh38] Chr15:76584777 [GRCh37] Chr15:15q24.2	pathogenic\|likely pathogenic
NM_000126.4(ETFA):c.39+12C>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000371483]\|not provided [RCV001610351]\|not specified [RCV000078133]	Chr15:76311338 [GRCh38] Chr15:76603679 [GRCh37] Chr15:15q24.3	benign
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	copy number gain	See cases [RCV000142915]	Chr15:59828460..101920998 [GRCh38] Chr15:60120659..102461201 [GRCh37] Chr15:57907951..100278724 [NCBI36] Chr15:15q22.2-26.3	pathogenic
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001228210]\|not provided [RCV000254926]	Chr15:76285676 [GRCh38] Chr15:76578017 [GRCh37] Chr15:15q24.2	pathogenic\|likely pathogenic
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg)	single nucleotide variant	ETFA-related disorder [RCV003917703]\|Multiple acyl-CoA dehydrogenase deficiency [RCV000320514]\|not provided [RCV000726964]	Chr15:76286400 [GRCh38] Chr15:76578741 [GRCh37] Chr15:15q24.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000126.4(ETFA):c.351+17T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001519264]\|not provided [RCV003398743]\|not specified [RCV000124908]	Chr15:76292414 [GRCh38] Chr15:76584755 [GRCh37] Chr15:15q24.2	benign\|likely benign
NM_000126.4(ETFA):c.734-20C>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001518157]\|not provided [RCV004714484]\|not specified [RCV000124910]	Chr15:76274514 [GRCh38] Chr15:76566855 [GRCh37] Chr15:15q24.2	benign
GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	copy number loss	See cases [RCV000137079]	Chr15:76006154..79982417 [GRCh38] Chr15:76298495..80274759 [GRCh37] Chr15:74085550..78061814 [NCBI36] Chr15:15q24.2-25.1	pathogenic\|uncertain significance
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	copy number loss	See cases [RCV000141666]	Chr15:70025300..78705993 [GRCh38] Chr15:70317639..78998335 [GRCh37] Chr15:68104693..76785390 [NCBI36] Chr15:15q23-25.1	pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	copy number gain	See cases [RCV000143019]	Chr15:72154949..101920998 [GRCh38] Chr15:72447290..102461201 [GRCh37] Chr15:70234344..100278724 [NCBI36] Chr15:15q23-26.3	pathogenic
NM_000126.4(ETFA):c.2T>C (p.Met1Thr)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000324694]\|not provided [RCV000153198]	Chr15:76311387 [GRCh38] Chr15:76603728 [GRCh37] Chr15:15q24.3	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000126.4(ETFA):c.186+7A>G	single nucleotide variant	Glutaric acidemia type 2A [RCV001833109]\|Multiple acyl-CoA dehydrogenase deficiency [RCV000323787]\|not provided [RCV000676980]\|not specified [RCV000185862]	Chr15:76295584 [GRCh38] Chr15:76587925 [GRCh37] Chr15:15q24.2	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000126.4(ETFA):c.580G>A (p.Val194Met)	single nucleotide variant	not specified [RCV000185864]	Chr15:76285721 [GRCh38] Chr15:76578062 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.20C>T (p.Pro7Leu)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000702647]\|not provided [RCV002292481]	Chr15:76311369 [GRCh38] Chr15:76603710 [GRCh37] Chr15:15q24.3	likely benign\|uncertain significance
NM_000126.4(ETFA):c.215G>A (p.Gly72Asp)	single nucleotide variant	Inborn genetic diseases [RCV002516966]\|Multiple acyl-CoA dehydrogenase deficiency [RCV001241625]\|not provided [RCV000185866]	Chr15:76292672 [GRCh38] Chr15:76585013 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.3(ETFA):c.360G>T (p.Leu120Phe)	single nucleotide variant	not specified [RCV000185867]	Chr15:76287937 [GRCh38] Chr15:76580278 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu)	single nucleotide variant	ETFA-related disorder [RCV003977491]\|Multiple acyl-CoA dehydrogenase deficiency [RCV000527908]\|not provided [RCV000185869]	Chr15:76231389 [GRCh38] Chr15:76523730 [GRCh37] Chr15:15q24.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	copy number gain	See cases [RCV000511332]	Chr15:76061144..102429112 [GRCh37] Chr15:15q24.2-26.3	pathogenic
GRCh37/hg19 15q24.2-24.3(chr15:76223116-77023288)x3	copy number gain	See cases [RCV000239983]	Chr15:76223116..77023288 [GRCh37] Chr15:15q24.2-24.3	uncertain significance
NM_000126.4(ETFA):c.21G>C (p.Pro7=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001505081]\|not specified [RCV000606269]	Chr15:76311368 [GRCh38] Chr15:76603709 [GRCh37] Chr15:15q24.3	likely benign
GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3	copy number gain	See cases [RCV000240526]	Chr15:74368270..78122737 [GRCh37] Chr15:15q24.1-24.3	uncertain significance
NM_000126.4(ETFA):c.667C>A (p.Arg223=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001494462]	Chr15:76283823 [GRCh38] Chr15:76576164 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.442A>G (p.Ile148Val)	single nucleotide variant	Glutaric acidemia type 2A [RCV001272688]\|Multiple acyl-CoA dehydrogenase deficiency [RCV001081384]\|not provided [RCV000224700]	Chr15:76287855 [GRCh38] Chr15:76580196 [GRCh37] Chr15:15q24.2	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000126.4(ETFA):c.562+11A>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000272341]\|not specified [RCV000443607]	Chr15:76286360 [GRCh38] Chr15:76578701 [GRCh37] Chr15:15q24.2	benign\|uncertain significance
NM_000126.4(ETFA):c.-71T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000292449]\|not provided [RCV001549300]	Chr15:76311459 [GRCh38] Chr15:76603800 [GRCh37] Chr15:15q24.3	likely benign\|uncertain significance
NM_000126.4(ETFA):c.-7G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000279388]	Chr15:76311395 [GRCh38] Chr15:76603736 [GRCh37] Chr15:15q24.3	uncertain significance
NM_000126.4(ETFA):c.6C>T (p.Phe2=)	single nucleotide variant	Glutaric acidemia type 2A [RCV001272689]\|Multiple acyl-CoA dehydrogenase deficiency [RCV001079275]\|not provided [RCV000725409]\|not specified [RCV000341012]	Chr15:76311383 [GRCh38] Chr15:76603724 [GRCh37] Chr15:15q24.3	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000126.4(ETFA):c.*99G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000370060]	Chr15:76216460 [GRCh38] Chr15:76508801 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.-59C>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000375267]	Chr15:76311447 [GRCh38] Chr15:76603788 [GRCh37] Chr15:15q24.3	uncertain significance
NM_000126.4(ETFA):c.367G>A (p.Val123Ile)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000266331]	Chr15:76287930 [GRCh38] Chr15:76580271 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.*216A>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000313076]\|not provided [RCV001712106]	Chr15:76216343 [GRCh38] Chr15:76508684 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.*55C>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000277782]	Chr15:76216504 [GRCh38] Chr15:76508845 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.-56C>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000337033]	Chr15:76311444 [GRCh38] Chr15:76603785 [GRCh37] Chr15:15q24.3	uncertain significance
NM_000126.4(ETFA):c.*268A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000390524]\|not provided [RCV001712030]	Chr15:76216291 [GRCh38] Chr15:76508632 [GRCh37] Chr15:15q24.2	benign\|likely benign
NM_000126.4(ETFA):c.664+27T>A	single nucleotide variant	not provided [RCV001574735]	Chr15:76285610 [GRCh38] Chr15:76577951 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.746G>A (p.Arg249His)	single nucleotide variant	Glutaric acidemia type 2A [RCV001835781]\|Inborn genetic diseases [RCV002520975]\|Multiple acyl-CoA dehydrogenase deficiency [RCV000325820]	Chr15:76274482 [GRCh38] Chr15:76566823 [GRCh37] Chr15:15q24.2	uncertain significance
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	copy number gain	not provided [RCV000415836]	Chr15:59297293..102480888 [GRCh37] Chr15:15q22.1-26.3	likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	copy number gain	See cases [RCV000447123]	Chr15:41745084..102354798 [GRCh37] Chr15:15q15.1-26.3	pathogenic
NM_000126.4(ETFA):c.-40G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001330796]\|not provided [RCV001703800]	Chr15:76311428 [GRCh38] Chr15:76603769 [GRCh37] Chr15:15q24.3	likely benign\|uncertain significance
NM_000126.4(ETFA):c.451+14G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002062404]\|not specified [RCV000424816]	Chr15:76287832 [GRCh38] Chr15:76580173 [GRCh37] Chr15:15q24.2	benign\|likely benign
NM_000126.4(ETFA):c.186+16G>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001523630]\|not specified [RCV000435269]	Chr15:76295575 [GRCh38] Chr15:76587916 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.-42C>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001119611]\|not specified [RCV000432359]	Chr15:76311430 [GRCh38] Chr15:76603771 [GRCh37] Chr15:15q24.3	likely benign\|uncertain significance
NM_000126.4(ETFA):c.985A>C (p.Ile329Leu)	single nucleotide variant	not specified [RCV000432839]	Chr15:76216576 [GRCh38] Chr15:76508917 [GRCh37] Chr15:15q24.2	likely benign
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	copy number gain	See cases [RCV000447765]	Chr15:20733395..102511616 [GRCh37] Chr15:15q11.2-26.3	pathogenic
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter)	single nucleotide variant	Glutaric acidemia type 2A [RCV001829411]\|Multiple acyl-CoA dehydrogenase deficiency [RCV000779174]\|not provided [RCV000493941]	Chr15:76283823 [GRCh38] Chr15:76576164 [GRCh37] Chr15:15q24.2	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	copy number gain	See cases [RCV000512019]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
NM_000126.4(ETFA):c.452-11del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV002529565]\|not specified [RCV000600425]	Chr15:76286492 [GRCh38] Chr15:76578833 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.964-20C>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002063277]\|not specified [RCV000612313]	Chr15:76216617 [GRCh38] Chr15:76508958 [GRCh37] Chr15:15q24.2	benign\|likely benign
NM_000126.4(ETFA):c.-48C>T	single nucleotide variant	not specified [RCV000601482]	Chr15:76311436 [GRCh38] Chr15:76603777 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.882+20del	deletion	not specified [RCV000610220]	Chr15:76231313 [GRCh38] Chr15:76523654 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.495_496del (p.Ser167fs)	microsatellite	ETFA-related disorder [RCV003403271]\|Multiple acyl-CoA dehydrogenase deficiency [RCV000534299]	Chr15:76286437..76286438 [GRCh38] Chr15:76578778..76578779 [GRCh37] Chr15:15q24.2	pathogenic\|likely pathogenic
NM_000126.4(ETFA):c.-31T>C	single nucleotide variant	not specified [RCV000614591]	Chr15:76311419 [GRCh38] Chr15:76603760 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.817-12C>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002531509]\|not provided [RCV001722659]	Chr15:76231410 [GRCh38] Chr15:76523751 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.882+5T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001860309]\|not specified [RCV000605516]	Chr15:76231328 [GRCh38] Chr15:76523669 [GRCh37] Chr15:15q24.2	likely benign\|uncertain significance
NM_000126.4(ETFA):c.37G>A (p.Ala13Thr)	single nucleotide variant	not provided [RCV000513143]	Chr15:76311352 [GRCh38] Chr15:76603693 [GRCh37] Chr15:15q24.3	uncertain significance
NM_000126.4(ETFA):c.946G>T (p.Val316Phe)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000707619]	Chr15:76225866 [GRCh38] Chr15:76518207 [GRCh37] Chr15:15q24.2	uncertain significance
NC_000015.10:g.76211811_76230784del	deletion	Glutaryl-CoA oxidase deficiency [RCV004813311]	Chr15:76211811..76230784 [GRCh38] Chr15:15q24.2	pathogenic
Single allele	duplication	Schizophrenia [RCV000754167]	Chr15:74071509..77878298 [GRCh38] Chr15:15q24.1-24.3	likely pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3	copy number gain	not provided [RCV000751155]	Chr15:20016811..102493540 [GRCh37] Chr15:15q11.1-26.3	pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3	copy number gain	not provided [RCV000751156]	Chr15:20071673..102461162 [GRCh37] Chr15:15q11.1-26.3	pathogenic
NM_000126.4(ETFA):c.562+100T>C	single nucleotide variant	not provided [RCV001586574]	Chr15:76286271 [GRCh38] Chr15:76578612 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.817-144_817-141del	deletion	not provided [RCV001586614]	Chr15:76231539..76231542 [GRCh38] Chr15:76523880..76523883 [GRCh37] Chr15:15q24.2	likely benign
NC_000015.10:g.76311530C>T	single nucleotide variant	not provided [RCV001581088]	Chr15:76311530 [GRCh38] Chr15:76603871 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.963+260C>T	single nucleotide variant	not provided [RCV001568472]	Chr15:76225589 [GRCh38] Chr15:76517930 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.759T>C (p.Asp253=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001277757]	Chr15:76274469 [GRCh38] Chr15:76566810 [GRCh37] Chr15:15q24.2	likely benign\|uncertain significance
NM_000126.4(ETFA):c.798G>A (p.Thr266=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001398033]	Chr15:76274430 [GRCh38] Chr15:76566771 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.40-10C>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000945721]	Chr15:76295747 [GRCh38] Chr15:76588088 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.720A>G (p.Gln240=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000982193]	Chr15:76283770 [GRCh38] Chr15:76576111 [GRCh37] Chr15:15q24.2	likely benign\|conflicting interpretations of pathogenicity
NM_000126.4(ETFA):c.40-269_40-266del	deletion	not provided [RCV000844005]	Chr15:76296003..76296006 [GRCh38] Chr15:76588344..76588347 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.816+227A>G	single nucleotide variant	not provided [RCV000841563]	Chr15:76274185 [GRCh38] Chr15:76566526 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.352-241G>A	single nucleotide variant	not provided [RCV000841619]	Chr15:76288186 [GRCh38] Chr15:76580527 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.39+234G>A	single nucleotide variant	not provided [RCV000839685]	Chr15:76311116 [GRCh38] Chr15:76603457 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.186+155G>A	single nucleotide variant	not provided [RCV000839838]	Chr15:76295436..76295437 [GRCh38] Chr15:76295436 [GRCh38] Chr15:76587777..76587778 [GRCh37] Chr15:76587777 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.882+54G>T	single nucleotide variant	not provided [RCV000833050]	Chr15:76231279 [GRCh38] Chr15:76523620 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.66C>T (p.Thr22=)	single nucleotide variant	ETFA-related disorder [RCV003898113]\|Multiple acyl-CoA dehydrogenase deficiency [RCV001118071]	Chr15:76295711 [GRCh38] Chr15:76588052 [GRCh37] Chr15:15q24.2	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000126.4(ETFA):c.63T>G (p.Ser21Arg)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000824188]	Chr15:76295714 [GRCh38] Chr15:76588055 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.452-268C>T	single nucleotide variant	not provided [RCV000830647]	Chr15:76286749..76286750 [GRCh38] Chr15:76286749 [GRCh38] Chr15:76579090..76579091 [GRCh37] Chr15:76579090 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.733+10T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000982097]	Chr15:76283747 [GRCh38] Chr15:76576088 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.40-269A>G	single nucleotide variant	not provided [RCV000844163]	Chr15:76296006 [GRCh38] Chr15:76588347 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.451+253A>G	single nucleotide variant	not provided [RCV000831729]	Chr15:76287593 [GRCh38] Chr15:76579934 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.342C>T (p.Ala114=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000979472]	Chr15:76292440 [GRCh38] Chr15:76584781 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.3(ETFA):c.-199G>A	single nucleotide variant	not provided [RCV000835641]	Chr15:76311587 [GRCh38] Chr15:76603928 [GRCh37] Chr15:15q24.3	benign
NM_000126.4(ETFA):c.-71T>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001119612]	Chr15:76311459 [GRCh38] Chr15:76603800 [GRCh37] Chr15:15q24.3	uncertain significance
NM_000126.4(ETFA):c.506G>A (p.Arg169His)	single nucleotide variant	Glutaric acidemia type 2A [RCV001829002]\|Multiple acyl-CoA dehydrogenase deficiency [RCV001242777]	Chr15:76286427 [GRCh38] Chr15:76578768 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.351+12G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001118068]	Chr15:76292419 [GRCh38] Chr15:76584760 [GRCh37] Chr15:15q24.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del)	microsatellite	Glutaric acidemia IIa [RCV002267117]\|Multiple acyl-CoA dehydrogenase deficiency [RCV001780410]\|not provided [RCV001577514]	Chr15:76274417..76274419 [GRCh38] Chr15:76566758..76566760 [GRCh37] Chr15:15q24.2	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_000126.4(ETFA):c.883-77_883-76insGTAAG	insertion	not provided [RCV001645848]	Chr15:76226005..76226006 [GRCh38] Chr15:76518346..76518347 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.963+208A>G	single nucleotide variant	not provided [RCV001556859]	Chr15:76225641 [GRCh38] Chr15:76517982 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.964-266dup	duplication	not provided [RCV001693296]	Chr15:76216840..76216841 [GRCh38] Chr15:76509181..76509182 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.964-266_964-264dup	duplication	not provided [RCV001657217]	Chr15:76216840..76216841 [GRCh38] Chr15:76509181..76509182 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.40-244C>T	single nucleotide variant	not provided [RCV001653150]	Chr15:76295981 [GRCh38] Chr15:76588322 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.837A>G (p.Gly279=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000979557]	Chr15:76231378 [GRCh38] Chr15:76523719 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.988T>C (p.Leu330=)	single nucleotide variant	not provided [RCV000919001]	Chr15:76216573 [GRCh38] Chr15:76508914 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.186+9T>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001446668]	Chr15:76295582 [GRCh38] Chr15:76587923 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.15_25dup (p.Gln9fs)	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV001784643]\|not provided [RCV001092618]	Chr15:76311363..76311364 [GRCh38] Chr15:76603704..76603705 [GRCh37] Chr15:15q24.3	pathogenic
NM_000126.4(ETFA):c.379C>T (p.Leu127Phe)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001198108]	Chr15:76287918 [GRCh38] Chr15:76580259 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.882+9A>G	single nucleotide variant	Glutaric acidemia type 2A [RCV001272687]\|Multiple acyl-CoA dehydrogenase deficiency [RCV001480517]	Chr15:76231324 [GRCh38] Chr15:76523665 [GRCh37] Chr15:15q24.2	likely benign\|uncertain significance
NM_000126.4(ETFA):c.562+31_562+34del	deletion	not provided [RCV001576254]	Chr15:76286337..76286340 [GRCh38] Chr15:76578678..76578681 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.733+113G>A	single nucleotide variant	not provided [RCV001576314]	Chr15:76283644 [GRCh38] Chr15:76575985 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.664+58del	deletion	not provided [RCV001568994]	Chr15:76285579 [GRCh38] Chr15:76577920 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.964-266_964-263dup	duplication	not provided [RCV001596698]	Chr15:76216840..76216841 [GRCh38] Chr15:76509181..76509182 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.39+85C>G	single nucleotide variant	not provided [RCV001576961]	Chr15:76311265 [GRCh38] Chr15:76603606 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.40-51_40-50del	deletion	not provided [RCV001592205]	Chr15:76295787..76295788 [GRCh38] Chr15:76588128..76588129 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.40-66_40-65dup	duplication	not provided [RCV001677388]	Chr15:76295786..76295787 [GRCh38] Chr15:76588127..76588128 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.817-301T>C	single nucleotide variant	not provided [RCV001536649]	Chr15:76231699 [GRCh38] Chr15:76524040 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.883-76_883-75insGGTAA	insertion	not provided [RCV001686612]	Chr15:76226004..76226005 [GRCh38] Chr15:76518345..76518346 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.40-66dup	duplication	not provided [RCV001637837]	Chr15:76295786..76295787 [GRCh38] Chr15:76588127..76588128 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.452-212C>T	single nucleotide variant	not provided [RCV001592002]	Chr15:76286693 [GRCh38] Chr15:76579034 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.664+1G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001069226]	Chr15:76285636 [GRCh38] Chr15:76577977 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.884_886del (p.Thr295del)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV001175202]	Chr15:76225926..76225928 [GRCh38] Chr15:76518267..76518269 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.963+296A>G	single nucleotide variant	not provided [RCV001707415]	Chr15:76225553 [GRCh38] Chr15:76517894 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.40-50del	deletion	not provided [RCV001669920]	Chr15:76295787 [GRCh38] Chr15:76588128 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.457G>C (p.Ala153Pro)	single nucleotide variant	Glutaric acidemia type 2A [RCV001828734]\|Multiple acyl-CoA dehydrogenase deficiency [RCV001217994]	Chr15:76286476 [GRCh38] Chr15:76578817 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.268+3G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001118069]	Chr15:76292616 [GRCh38] Chr15:76584957 [GRCh37] Chr15:15q24.2	uncertain significance
NC_000015.10:g.(?_76311340)_(76311398_?)del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV001033702]	Chr15:76603681..76603739 [GRCh37] Chr15:15q24.3	pathogenic
NM_000126.4(ETFA):c.*46C>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001121507]\|not provided [RCV004693758]	Chr15:76216513 [GRCh38] Chr15:76508854 [GRCh37] Chr15:15q24.2	uncertain significance
GRCh37/hg19 15q24.2-24.3(chr15:76534705-76607591)x1	copy number loss	not provided [RCV001259711]	Chr15:76534705..76607591 [GRCh37] Chr15:15q24.2-24.3	uncertain significance
NM_000126.4(ETFA):c.451+287T>C	single nucleotide variant	not provided [RCV001580999]	Chr15:76287559 [GRCh38] Chr15:76579900 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.173C>G (p.Thr58Ser)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001330795]	Chr15:76295604 [GRCh38] Chr15:76587945 [GRCh37] Chr15:15q24.2	uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup	duplication	Bloom syndrome [RCV001343104]\|Familial colorectal cancer [RCV001325176]	Chr15:32964879..91358519 [GRCh37] Chr15:15q13.3-26.1	uncertain significance
NM_000126.4(ETFA):c.39+8C>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001396775]	Chr15:76311342 [GRCh38] Chr15:76603683 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.765C>A (p.Gly255=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001396954]	Chr15:76274463 [GRCh38] Chr15:76566804 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.165A>G (p.Val55=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001395133]	Chr15:76295612 [GRCh38] Chr15:76587953 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.218T>C (p.Ile73Thr)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001277761]	Chr15:76292669 [GRCh38] Chr15:76585010 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.392C>T (p.Pro131Leu)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001300516]	Chr15:76287905 [GRCh38] Chr15:76580246 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.706G>T (p.Asp236Tyr)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001365627]	Chr15:76283784 [GRCh38] Chr15:76576125 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.24G>A (p.Gly8=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001395128]	Chr15:76311365 [GRCh38] Chr15:76603706 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.919A>G (p.Ile307Val)	single nucleotide variant	Glutaric acidemia type 2A [RCV001826047]\|Multiple acyl-CoA dehydrogenase deficiency [RCV001365995]	Chr15:76225893 [GRCh38] Chr15:76518234 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.189G>A (p.Val63=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001450380]	Chr15:76292698 [GRCh38] Chr15:76585039 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.891G>C (p.Val297=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001473160]	Chr15:76225921 [GRCh38] Chr15:76518262 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.963+9del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV001453870]	Chr15:76225840 [GRCh38] Chr15:76518181 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.540C>G (p.Gly180=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001454088]\|not provided [RCV001619907]	Chr15:76286393 [GRCh38] Chr15:76578734 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.540C>T (p.Gly180=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001485315]	Chr15:76286393 [GRCh38] Chr15:76578734 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.141T>G (p.Leu47=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001491571]	Chr15:76295636 [GRCh38] Chr15:76587977 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.793C>T (p.Gln265Ter)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001381065]	Chr15:76274435 [GRCh38] Chr15:76566776 [GRCh37] Chr15:15q24.2	pathogenic
NM_000126.4(ETFA):c.563-6A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001489399]	Chr15:76285744 [GRCh38] Chr15:76578085 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.817-3173C>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001521894]	Chr15:76234571 [GRCh38] Chr15:76526912 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.837A>C (p.Gly279=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001409660]	Chr15:76231378 [GRCh38] Chr15:76523719 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.882+7G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001430795]	Chr15:76231326 [GRCh38] Chr15:76523667 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.964-10T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001407657]	Chr15:76216607 [GRCh38] Chr15:76508948 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.423T>C (p.Pro141=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001417189]	Chr15:76287874 [GRCh38] Chr15:76580215 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.591A>C (p.Ser197=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001434339]	Chr15:76285710 [GRCh38] Chr15:76578051 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.723A>G (p.Leu241=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001400483]	Chr15:76283767 [GRCh38] Chr15:76576108 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.478del (p.Asp160fs)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV001390288]	Chr15:76286455 [GRCh38] Chr15:76578796 [GRCh37] Chr15:15q24.2	pathogenic
NM_000126.4(ETFA):c.352-8G>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001408371]	Chr15:76287953 [GRCh38] Chr15:76580294 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.882+7G>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001447666]	Chr15:76231326 [GRCh38] Chr15:76523667 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.345C>T (p.Phe115=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001434740]	Chr15:76292437 [GRCh38] Chr15:76584778 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.201C>G (p.Leu67=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001406265]	Chr15:76292686 [GRCh38] Chr15:76585027 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.240G>A (p.Gln80=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001401778]	Chr15:76292647 [GRCh38] Chr15:76584988 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.222A>G (p.Ala74=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001506009]	Chr15:76292665 [GRCh38] Chr15:76585006 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.564A>G (p.Ala188=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001462006]	Chr15:76285737 [GRCh38] Chr15:76578078 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.579A>G (p.Pro193=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001499373]	Chr15:76285722 [GRCh38] Chr15:76578063 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.183C>T (p.Asp61=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001479813]	Chr15:76295594 [GRCh38] Chr15:76587935 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.269-5C>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001484817]	Chr15:76292518 [GRCh38] Chr15:76584859 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.964-266_964-262dup	duplication	not provided [RCV001590049]	Chr15:76216840..76216841 [GRCh38] Chr15:76509181..76509182 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.435G>A (p.Val145=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001490258]	Chr15:76287862 [GRCh38] Chr15:76580203 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.153G>A (p.Val51=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001482146]	Chr15:76295624 [GRCh38] Chr15:76587965 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.882+8T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001467349]	Chr15:76231325 [GRCh38] Chr15:76523666 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.273A>G (p.Glu91=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001481733]	Chr15:76292509 [GRCh38] Chr15:76584850 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.156C>T (p.Ser52=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001455785]	Chr15:76295621 [GRCh38] Chr15:76587962 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.883-6T>C	single nucleotide variant	ETFA-related disorder [RCV003930868]\|Multiple acyl-CoA dehydrogenase deficiency [RCV001406775]	Chr15:76225935 [GRCh38] Chr15:76518276 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.186+9T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001425444]	Chr15:76295582 [GRCh38] Chr15:76587923 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.981T>G (p.Thr327=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001438689]	Chr15:76216580 [GRCh38] Chr15:76508921 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.393G>A (p.Pro131=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001419113]	Chr15:76287904 [GRCh38] Chr15:76580245 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.300G>T (p.Gln100His)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001912666]	Chr15:76292482 [GRCh38] Chr15:76584823 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.592G>C (p.Glu198Gln)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001949849]	Chr15:76285709 [GRCh38] Chr15:76578050 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.285del (p.Ile96fs)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV001987524]	Chr15:76292497 [GRCh38] Chr15:76584838 [GRCh37] Chr15:15q24.2	pathogenic
NC_000015.9:g.(?_76566743)_(76588088_?)del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV001986156]	Chr15:76566743..76588088 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.11C>T (p.Ala4Val)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001912328]	Chr15:76311378 [GRCh38] Chr15:76603719 [GRCh37] Chr15:15q24.3	uncertain significance
NM_000126.4(ETFA):c.1001G>T (p.Ter334Leu)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001913150]	Chr15:76216560 [GRCh38] Chr15:76508901 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.27_30del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV001844341]	Chr15:76216529..76216532 [GRCh38] Chr15:76508870..76508873 [GRCh37] Chr15:15q24.2	pathogenic
NC_000015.9:g.(?_76508890)_(76603739_?)del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV001941918]	Chr15:76508890..76603739 [GRCh37] Chr15:15q24.2-24.3	pathogenic
NC_000015.9:g.(?_76566743)_(76603739_?)del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV001941919]	Chr15:76566743..76603739 [GRCh37] Chr15:15q24.2-24.3	pathogenic
NM_000126.4(ETFA):c.521A>C (p.Asp174Ala)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001941259]	Chr15:76286412 [GRCh38] Chr15:76578753 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.625C>G (p.Arg209Gly)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001941093]	Chr15:76285676 [GRCh38] Chr15:76578017 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.467C>T (p.Thr156Ile)	single nucleotide variant	Inborn genetic diseases [RCV004975804]\|Multiple acyl-CoA dehydrogenase deficiency [RCV001920158]	Chr15:76286466 [GRCh38] Chr15:76578807 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.88A>G (p.Asn30Asp)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001978524]	Chr15:76295689 [GRCh38] Chr15:76588030 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.263T>C (p.Leu88Pro)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001931176]	Chr15:76292624 [GRCh38] Chr15:76584965 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.745C>T (p.Arg249Cys)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001955917]	Chr15:76274483 [GRCh38] Chr15:76566824 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.8G>C (p.Arg3Pro)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001991598]	Chr15:76311381 [GRCh38] Chr15:76603722 [GRCh37] Chr15:15q24.3	uncertain significance
NM_000126.4(ETFA):c.682G>A (p.Gly228Arg)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002016468]	Chr15:76283808 [GRCh38] Chr15:76576149 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.79G>A (p.Glu27Lys)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001991552]	Chr15:76295698 [GRCh38] Chr15:76588039 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.148G>A (p.Glu50Lys)	single nucleotide variant	Inborn genetic diseases [RCV003348679]\|Multiple acyl-CoA dehydrogenase deficiency [RCV001997329]	Chr15:76295629 [GRCh38] Chr15:76587970 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.44C>A (p.Ser15Ter)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001951135]	Chr15:76295733 [GRCh38] Chr15:76588074 [GRCh37] Chr15:15q24.2	pathogenic
NM_000126.4(ETFA):c.932C>T (p.Ala311Val)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001883510]	Chr15:76225880 [GRCh38] Chr15:76518221 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.321_322del (p.Ile108fs)	microsatellite	Multiple acyl-CoA dehydrogenase deficiency [RCV001939556]	Chr15:76292460..76292461 [GRCh38] Chr15:76584801..76584802 [GRCh37] Chr15:15q24.2	pathogenic\|likely pathogenic
NM_000126.4(ETFA):c.163G>A (p.Val55Ile)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002019449]	Chr15:76295614 [GRCh38] Chr15:76587955 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.186+1G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002036201]	Chr15:76295590 [GRCh38] Chr15:76587931 [GRCh37] Chr15:15q24.2	likely pathogenic
NC_000015.9:g.(?_76508890)_(76508948_?)del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV001930275]	Chr15:76508890..76508948 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.77C>T (p.Ala26Val)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002048833]	Chr15:76295700 [GRCh38] Chr15:76588041 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.427dup (p.Thr143fs)	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV001919517]	Chr15:76287869..76287870 [GRCh38] Chr15:76580210..76580211 [GRCh37] Chr15:15q24.2	pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	copy number gain	See cases [RCV000240602]	Chr15:64637227..102509910 [GRCh37] Chr15:15q22.31-26.3	pathogenic
NM_000126.4(ETFA):c.197A>G (p.Asp66Gly)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001277762]	Chr15:76292690 [GRCh38] Chr15:76585031 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.-9G>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001278289]	Chr15:76311397 [GRCh38] Chr15:76603738 [GRCh37] Chr15:15q24.3	uncertain significance
NM_000126.4(ETFA):c.290dup (p.Leu97fs)	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV001781053]	Chr15:76292491..76292492 [GRCh38] Chr15:76584832..76584833 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.931G>T (p.Ala311Ser)	single nucleotide variant	Glutaric acidemia type 2A [RCV001829514]\|Multiple acyl-CoA dehydrogenase deficiency [RCV002525215]\|not specified [RCV000520657]	Chr15:76225881 [GRCh38] Chr15:76518222 [GRCh37] Chr15:15q24.2	uncertain significance
GRCh37/hg19 15q24.2-24.3(chr15:76061143-78265674)x3	copy number gain	See cases [RCV000446527]	Chr15:76061143..78265674 [GRCh37] Chr15:15q24.2-24.3	uncertain significance
NM_000126.4(ETFA):c.-24G>T	single nucleotide variant	not provided [RCV001721309]	Chr15:76311412 [GRCh38] Chr15:76603753 [GRCh37] Chr15:15q24.3	likely benign
GRCh37/hg19 15q24.2-24.3(chr15:76524284-76625437)	copy number loss	Abnormal esophagus morphology [RCV000416799]	Chr15:76524284..76625437 [GRCh37] Chr15:15q24.2-24.3	likely benign
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	copy number gain	See cases [RCV000510717]	Chr15:22770422..102429112 [GRCh37] Chr15:15q11.2-26.3	pathogenic
NM_000126.4(ETFA):c.30C>T (p.Leu10=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000534010]	Chr15:76311359 [GRCh38] Chr15:76603700 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.871A>C (p.Lys291Gln)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000699658]	Chr15:76231344 [GRCh38] Chr15:76523685 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.964-1G>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000721997]	Chr15:76216598 [GRCh38] Chr15:76508939 [GRCh37] Chr15:15q24.2	uncertain significance
Single allele	duplication	not provided [RCV000677926]	Chr15:31115047..102354857 [GRCh37] Chr15:15q13.2-26.3	pathogenic
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	copy number gain	not provided [RCV000683703]	Chr15:71329220..102270758 [GRCh37] Chr15:15q23-26.3	pathogenic
NM_000126.4(ETFA):c.323T>A (p.Ile108Asn)	single nucleotide variant	Glutaric acidemia type 2A [RCV001825367]\|Multiple acyl-CoA dehydrogenase deficiency [RCV000696645]	Chr15:76292459 [GRCh38] Chr15:76584800 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.268+1G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003104196]	Chr15:76292618 [GRCh38] Chr15:76584959 [GRCh37] Chr15:15q24.2	likely pathogenic
GRCh37/hg19 15q24.2-24.3(chr15:76408090-76640658)x3	copy number gain	not provided [RCV000738824]	Chr15:76408090..76640658 [GRCh37] Chr15:15q24.2-24.3	benign
NC_000015.10:g.76311509G>C	single nucleotide variant	not provided [RCV001564332]	Chr15:76311509 [GRCh38] Chr15:76603850 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.702A>G (p.Leu234=)	single nucleotide variant	Glutaric acidemia type 2A [RCV001827061]\|Multiple acyl-CoA dehydrogenase deficiency [RCV000973823]	Chr15:76283788 [GRCh38] Chr15:76576129 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.816+8T>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000976820]	Chr15:76274404 [GRCh38] Chr15:76566745 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.882+6T>G	single nucleotide variant	Glutaric acidemia type 2A [RCV001830716]\|Multiple acyl-CoA dehydrogenase deficiency [RCV000798664]	Chr15:76231327 [GRCh38] Chr15:76523668 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.624del (p.Arg209fs)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV000803822]	Chr15:76285677 [GRCh38] Chr15:76578018 [GRCh37] Chr15:15q24.2	pathogenic\|likely pathogenic
NM_000126.4(ETFA):c.81G>C (p.Glu27Asp)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000809428]	Chr15:76295696 [GRCh38] Chr15:76588037 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)	single nucleotide variant	Inborn genetic diseases [RCV002538204]\|Multiple acyl-CoA dehydrogenase deficiency [RCV000824641]\|not provided [RCV001564261]	Chr15:76295725 [GRCh38] Chr15:76588066 [GRCh37] Chr15:15q24.2	pathogenic\|likely pathogenic
NM_000126.4(ETFA):c.352-261G>A	single nucleotide variant	not provided [RCV000844006]	Chr15:76288206 [GRCh38] Chr15:76580547 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.509G>A (p.Gly170Glu)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000795167]	Chr15:76286424 [GRCh38] Chr15:76578765 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.882+10C>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001116619]	Chr15:76231323 [GRCh38] Chr15:76523664 [GRCh37] Chr15:15q24.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_000126.4(ETFA):c.728C>G (p.Ala243Gly)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001116620]	Chr15:76283762 [GRCh38] Chr15:76576103 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.7C>T (p.Arg3Ter)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV000985194]	Chr15:76311382 [GRCh38] Chr15:76603723 [GRCh37] Chr15:15q24.3	likely pathogenic
NM_000126.4(ETFA):c.733+250T>C	single nucleotide variant	not provided [RCV001560862]	Chr15:76283507 [GRCh38] Chr15:76575848 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.883-269T>A	single nucleotide variant	not provided [RCV001558171]	Chr15:76226198 [GRCh38] Chr15:76518539 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.734-107A>G	single nucleotide variant	not provided [RCV001561790]	Chr15:76274601 [GRCh38] Chr15:76566942 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.452-175G>A	single nucleotide variant	not provided [RCV001657552]	Chr15:76286656 [GRCh38] Chr15:76578997 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.562+104A>C	single nucleotide variant	not provided [RCV001570983]	Chr15:76286267 [GRCh38] Chr15:76578608 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.817-85A>T	single nucleotide variant	not provided [RCV001550046]	Chr15:76231483 [GRCh38] Chr15:76523824 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.351+83dup	duplication	not provided [RCV001717771]	Chr15:76292345..76292346 [GRCh38] Chr15:76584686..76584687 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.39+80del	deletion	not provided [RCV001617151]	Chr15:76311270 [GRCh38] Chr15:76603611 [GRCh37] Chr15:15q24.3	benign
NM_000126.4(ETFA):c.366A>G (p.Arg122=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001118067]	Chr15:76287931 [GRCh38] Chr15:76580272 [GRCh37] Chr15:15q24.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_000126.4(ETFA):c.78T>C (p.Ala26=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001118070]	Chr15:76295699 [GRCh38] Chr15:76588040 [GRCh37] Chr15:15q24.2	conflicting interpretations of pathogenicity\|uncertain significance
NM_000126.4(ETFA):c.39+31G>C	single nucleotide variant	not provided [RCV001584981]	Chr15:76311319 [GRCh38] Chr15:76603660 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.40-45G>C	single nucleotide variant	not provided [RCV001665374]	Chr15:76295782 [GRCh38] Chr15:76588123 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.964-266_964-265dup	duplication	not provided [RCV001645418]	Chr15:76216840..76216841 [GRCh38] Chr15:76509181..76509182 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.967G>A (p.Val323Ile)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001053833]	Chr15:76216594 [GRCh38] Chr15:76508935 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.625del (p.Arg209fs)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV001058139]	Chr15:76285676 [GRCh38] Chr15:76578017 [GRCh37] Chr15:15q24.2	pathogenic\|likely pathogenic
GRCh37/hg19 15q24.2-24.3(chr15:75920400-76632051)x3	copy number gain	not provided [RCV001259710]	Chr15:75920400..76632051 [GRCh37] Chr15:15q24.2-24.3	uncertain significance
NM_000126.4(ETFA):c.170G>C (p.Gly57Ala)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001277763]\|not provided [RCV004774373]	Chr15:76295607 [GRCh38] Chr15:76587948 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.541G>A (p.Gly181Ser)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001277758]	Chr15:76286392 [GRCh38] Chr15:76578733 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.321C>T (p.His107=)	single nucleotide variant	ETFA-related disorder [RCV003898256]\|Multiple acyl-CoA dehydrogenase deficiency [RCV001277760]	Chr15:76292461 [GRCh38] Chr15:76584802 [GRCh37] Chr15:15q24.2	likely benign\|uncertain significance
NM_000126.4(ETFA):c.36G>A (p.Arg12=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001278288]	Chr15:76311353 [GRCh38] Chr15:76603694 [GRCh37] Chr15:15q24.3	likely benign\|uncertain significance
NM_000126.4(ETFA):c.505C>T (p.Arg169Cys)	single nucleotide variant	Glutaric acidemia type 2A [RCV001831148]\|Inborn genetic diseases [RCV002548462]\|Multiple acyl-CoA dehydrogenase deficiency [RCV001349016]	Chr15:76286428 [GRCh38] Chr15:76578769 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.265C>T (p.Pro89Ser)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001313856]	Chr15:76292622 [GRCh38] Chr15:76584963 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.431T>C (p.Phe144Ser)	single nucleotide variant	Glutaric acidemia type 2A [RCV001830429]\|Multiple acyl-CoA dehydrogenase deficiency [RCV001340865]\|not provided [RCV001751667]\|not specified [RCV004526113]	Chr15:76287866 [GRCh38] Chr15:76580207 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.876C>A (p.Asp292Glu)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001277756]	Chr15:76231339 [GRCh38] Chr15:76523680 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.351+9G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001277759]	Chr15:76292422 [GRCh38] Chr15:76584763 [GRCh37] Chr15:15q24.2	likely benign\|uncertain significance
NM_000126.4(ETFA):c.39G>A (p.Ala13=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001278287]	Chr15:76311350 [GRCh38] Chr15:76603691 [GRCh37] Chr15:15q24.3	uncertain significance
NM_000126.4(ETFA):c.883-3C>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001277755]	Chr15:76225932 [GRCh38] Chr15:76518273 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.560A>G (p.Lys187Arg)	single nucleotide variant	Glutaric acidemia type 2A [RCV001826042]\|Multiple acyl-CoA dehydrogenase deficiency [RCV001365494]	Chr15:76286373 [GRCh38] Chr15:76578714 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.822T>C (p.Leu274=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001486957]	Chr15:76231393 [GRCh38] Chr15:76523734 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.39+9G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001465554]	Chr15:76311341 [GRCh38] Chr15:76603682 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.813A>C (p.Ala271=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001461088]	Chr15:76274415 [GRCh38] Chr15:76566756 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.283T>C (p.Leu95=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001405803]	Chr15:76292499 [GRCh38] Chr15:76584840 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.351+8G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001431545]	Chr15:76292423 [GRCh38] Chr15:76584764 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.264T>G (p.Leu88=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001403966]	Chr15:76292623 [GRCh38] Chr15:76584964 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.354C>T (p.Asn118=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001478848]	Chr15:76287943 [GRCh38] Chr15:76580284 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.883-10T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001490762]	Chr15:76225939 [GRCh38] Chr15:76518280 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.665-17del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV001511263]	Chr15:76283842 [GRCh38] Chr15:76576183 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.358T>C (p.Leu120=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001477514]	Chr15:76287939 [GRCh38] Chr15:76580280 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.558A>G (p.Glu186=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001442037]	Chr15:76286375 [GRCh38] Chr15:76578716 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.228T>C (p.Val76=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001495933]	Chr15:76292659 [GRCh38] Chr15:76585000 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.187-4A>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001468610]	Chr15:76292704 [GRCh38] Chr15:76585045 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.294A>C (p.Ala98=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001424599]	Chr15:76292488 [GRCh38] Chr15:76584829 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.319_322del (p.His107fs)	microsatellite	Multiple acyl-CoA dehydrogenase deficiency [RCV001781054]	Chr15:76292460..76292463 [GRCh38] Chr15:76584801..76584804 [GRCh37] Chr15:15q24.2	pathogenic\|likely pathogenic
NM_000126.4(ETFA):c.494T>C (p.Val165Ala)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV004571073]\|not specified [RCV001733357]	Chr15:76286439 [GRCh38] Chr15:76578780 [GRCh37] Chr15:15q24.2	likely pathogenic\|uncertain significance
NM_000126.4(ETFA):c.269-8A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001970276]	Chr15:76292521 [GRCh38] Chr15:76584862 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.946G>C (p.Val316Leu)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001891651]	Chr15:76225866 [GRCh38] Chr15:76518207 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.557A>G (p.Glu186Gly)	single nucleotide variant	Inborn genetic diseases [RCV002545353]\|Multiple acyl-CoA dehydrogenase deficiency [RCV002050850]\|not provided [RCV003319480]	Chr15:76286376 [GRCh38] Chr15:76578717 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.973G>A (p.Glu325Lys)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001973187]	Chr15:76216588 [GRCh38] Chr15:76508929 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.461T>C (p.Leu154Pro)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV001897174]	Chr15:76286472 [GRCh38] Chr15:76578813 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.452-2A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002031943]	Chr15:76286483 [GRCh38] Chr15:76578824 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.693dup (p.Lys232Ter)	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV001993163]	Chr15:76283796..76283797 [GRCh38] Chr15:76576137..76576138 [GRCh37] Chr15:15q24.2	pathogenic\|likely pathogenic
NM_000126.4(ETFA):c.40-16T>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002210414]	Chr15:76295753 [GRCh38] Chr15:76588094 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.883-9A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002086550]	Chr15:76225938 [GRCh38] Chr15:76518279 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.816+9T>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002186958]	Chr15:76274403 [GRCh38] Chr15:76566744 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.733+16T>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002089419]	Chr15:76283741 [GRCh38] Chr15:76576082 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.678G>A (p.Lys226=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002206351]	Chr15:76283812 [GRCh38] Chr15:76576153 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.817-16A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002167501]	Chr15:76231414 [GRCh38] Chr15:76523755 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.441T>A (p.Thr147=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002167932]	Chr15:76287856 [GRCh38] Chr15:76580197 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.268+18A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002085223]	Chr15:76292601 [GRCh38] Chr15:76584942 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.951A>G (p.Ala317=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002206434]	Chr15:76225861 [GRCh38] Chr15:76518202 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.882+7G>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002148677]	Chr15:76231326 [GRCh38] Chr15:76523667 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.563-5T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002089301]	Chr15:76285743 [GRCh38] Chr15:76578084 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.734-10T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002096724]	Chr15:76274504 [GRCh38] Chr15:76566845 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.40-19dup	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV002096311]	Chr15:76295755..76295756 [GRCh38] Chr15:76588096..76588097 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.831T>C (p.Ala277=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002133135]	Chr15:76231384 [GRCh38] Chr15:76523725 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.348A>G (p.Gly116=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002134858]	Chr15:76292434 [GRCh38] Chr15:76584775 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.351+8G>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002115186]	Chr15:76292423 [GRCh38] Chr15:76584764 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.40-8C>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002195552]	Chr15:76295745 [GRCh38] Chr15:76588086 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.822T>A (p.Leu274=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002213239]	Chr15:76231393 [GRCh38] Chr15:76523734 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.462A>C (p.Leu154=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002140921]	Chr15:76286471 [GRCh38] Chr15:76578812 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.771T>G (p.Val257=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002119776]	Chr15:76274457 [GRCh38] Chr15:76566798 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.210A>G (p.Val70=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002164724]	Chr15:76292677 [GRCh38] Chr15:76585018 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.942A>C (p.Gly314=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002081386]	Chr15:76225870 [GRCh38] Chr15:76518211 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.451+14_451+17del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV002217797]	Chr15:76287829..76287832 [GRCh38] Chr15:76580170..76580173 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.909A>G (p.Pro303=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002082743]	Chr15:76225903 [GRCh38] Chr15:76518244 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.963+14G>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002099285]	Chr15:76225835 [GRCh38] Chr15:76518176 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.734-11T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002180406]	Chr15:76274505 [GRCh38] Chr15:76566846 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.451+19T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002202496]	Chr15:76287827 [GRCh38] Chr15:76580168 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.456T>C (p.Asn152=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002081466]	Chr15:76286477 [GRCh38] Chr15:76578818 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.489G>C (p.Val163=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002141361]	Chr15:76286444 [GRCh38] Chr15:76578785 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.838A>C (p.Ile280Leu)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003117210]	Chr15:76231377 [GRCh38] Chr15:76523718 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.26A>G (p.Gln9Arg)	single nucleotide variant	Inborn genetic diseases [RCV004047441]\|not provided [RCV002265434]	Chr15:76311363 [GRCh38] Chr15:76603704 [GRCh37] Chr15:15q24.3	uncertain significance
NM_000126.4(ETFA):c.632_640del (p.Glu211_Thr213del)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV002281668]	Chr15:76285661..76285669 [GRCh38] Chr15:76578002..76578010 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.776A>G (p.Asn259Ser)	single nucleotide variant	not provided [RCV002293928]	Chr15:76274452 [GRCh38] Chr15:76566793 [GRCh37] Chr15:15q24.2	uncertain significance
GRCh37/hg19 15q24.2-24.3(chr15:76295806-76602024)x3	copy number gain	not provided [RCV002473731]	Chr15:76295806..76602024 [GRCh37] Chr15:15q24.2-24.3	uncertain significance
NM_000126.4(ETFA):c.786A>G (p.Gln262=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003074519]	Chr15:76274442 [GRCh38] Chr15:76566783 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.817-7A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002819819]	Chr15:76231405 [GRCh38] Chr15:76523746 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.210A>T (p.Val70=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002837893]	Chr15:76292677 [GRCh38] Chr15:76585018 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.369A>T (p.Val123=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002861320]	Chr15:76287928 [GRCh38] Chr15:76580269 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.810A>G (p.Val270=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003014526]	Chr15:76274418 [GRCh38] Chr15:76566759 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.178T>G (p.Cys60Gly)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002726560]	Chr15:76295599 [GRCh38] Chr15:76587940 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.429A>G (p.Thr143=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002858691]	Chr15:76287868 [GRCh38] Chr15:76580209 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.914C>T (p.Ala305Val)	single nucleotide variant	Inborn genetic diseases [RCV002818555]	Chr15:76225898 [GRCh38] Chr15:76518239 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.816+13A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002776522]	Chr15:76274399 [GRCh38] Chr15:76566740 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.658_664+3del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV002908070]	Chr15:76285634..76285643 [GRCh38] Chr15:76577975..76577984 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.39+8C>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002880867]	Chr15:76311342 [GRCh38] Chr15:76603683 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.334G>T (p.Ala112Ser)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002794825]	Chr15:76292448 [GRCh38] Chr15:76584789 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.960T>C (p.Phe320=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002993700]	Chr15:76225852 [GRCh38] Chr15:76518193 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.733+8T>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002843083]	Chr15:76283749 [GRCh38] Chr15:76576090 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.665-13C>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003054731]	Chr15:76283838 [GRCh38] Chr15:76576179 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.562+8T>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002866412]	Chr15:76286363 [GRCh38] Chr15:76578704 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.369dup (p.Ala124fs)	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV002867627]	Chr15:76287927..76287928 [GRCh38] Chr15:76580268..76580269 [GRCh37] Chr15:15q24.2	pathogenic
NM_000126.4(ETFA):c.451+11A>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002867352]	Chr15:76287835 [GRCh38] Chr15:76580176 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.245A>T (p.Asp82Val)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002620893]	Chr15:76292642 [GRCh38] Chr15:76584983 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.664+8A>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003054493]	Chr15:76285629 [GRCh38] Chr15:76577970 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.963+8G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002761451]	Chr15:76225841 [GRCh38] Chr15:76518182 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.40-17_40-8del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV002846287]	Chr15:76295745..76295754 [GRCh38] Chr15:76588086..76588095 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.955T>C (p.Leu319=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003080214]	Chr15:76225857 [GRCh38] Chr15:76518198 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.384G>A (p.Glu128=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002695503]	Chr15:76287913 [GRCh38] Chr15:76580254 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.100G>A (p.Ala34Thr)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003038278]	Chr15:76295677 [GRCh38] Chr15:76588018 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.562+8T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002847011]	Chr15:76286363 [GRCh38] Chr15:76578704 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.882+15G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002948324]	Chr15:76231318 [GRCh38] Chr15:76523659 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.170G>T (p.Gly57Val)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003023750]	Chr15:76295607 [GRCh38] Chr15:76587948 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.120C>T (p.Thr40=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002871756]	Chr15:76295657 [GRCh38] Chr15:76587998 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.882+3A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002664099]	Chr15:76231330 [GRCh38] Chr15:76523671 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.84T>C (p.His28=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003085459]	Chr15:76295693 [GRCh38] Chr15:76588034 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.352-2A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002982147]	Chr15:76287947 [GRCh38] Chr15:76580288 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.603C>T (p.Asp201=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003042646]	Chr15:76285698 [GRCh38] Chr15:76578039 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.817-8T>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002828429]	Chr15:76231406 [GRCh38] Chr15:76523747 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.495G>A (p.Val165=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003047311]	Chr15:76286438 [GRCh38] Chr15:76578779 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.521A>G (p.Asp174Gly)	single nucleotide variant	Inborn genetic diseases [RCV002716264]\|Multiple acyl-CoA dehydrogenase deficiency [RCV002716263]	Chr15:76286412 [GRCh38] Chr15:76578753 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.481G>A (p.Glu161Lys)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002811916]	Chr15:76286452 [GRCh38] Chr15:76578793 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.563-9T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002922202]	Chr15:76285747 [GRCh38] Chr15:76578088 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.187-13C>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003090582]	Chr15:76292713 [GRCh38] Chr15:76585054 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.980C>A (p.Thr327Asn)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003009403]	Chr15:76216581 [GRCh38] Chr15:76508922 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.363C>T (p.Pro121=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002627861]	Chr15:76287934 [GRCh38] Chr15:76580275 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.388G>A (p.Ala130Thr)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003029545]	Chr15:76287909 [GRCh38] Chr15:76580250 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.295A>G (p.Thr99Ala)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002629837]	Chr15:76292487 [GRCh38] Chr15:76584828 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.780C>T (p.Asp260=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002834747]	Chr15:76274448 [GRCh38] Chr15:76566789 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.372A>C (p.Ala124=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002811402]	Chr15:76287925 [GRCh38] Chr15:76580266 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.819A>G (p.Glu273=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002717351]	Chr15:76231396 [GRCh38] Chr15:76523737 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.40-19del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003062925]	Chr15:76295756 [GRCh38] Chr15:76588097 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.665-17T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003088876]	Chr15:76283842 [GRCh38] Chr15:76576183 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.563-4G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003049222]	Chr15:76285742 [GRCh38] Chr15:76578083 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.994A>G (p.Lys332Glu)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002671703]	Chr15:76216567 [GRCh38] Chr15:76508908 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.700T>C (p.Leu234=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003067280]	Chr15:76283790 [GRCh38] Chr15:76576131 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.883-5C>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003068434]	Chr15:76225934 [GRCh38] Chr15:76518275 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.53G>A (p.Arg18Gln)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002610473]	Chr15:76295724 [GRCh38] Chr15:76588065 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.483G>C (p.Glu161Asp)	single nucleotide variant	not provided [RCV003225491]	Chr15:76286450 [GRCh38] Chr15:76578791 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.242A>C (p.His81Pro)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003140452]	Chr15:76292645 [GRCh38] Chr15:76584986 [GRCh37] Chr15:15q24.2	conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	copy number gain	See cases [RCV003329502]	Chr15:75165490..102520892 [GRCh37] Chr15:15q24.1-26.3	pathogenic
NM_000126.4(ETFA):c.963+17A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003512315]	Chr15:76225832 [GRCh38] Chr15:76518173 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.594G>A (p.Glu198=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003624993]	Chr15:76285707 [GRCh38] Chr15:76578048 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.39+18del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003625017]	Chr15:76311332 [GRCh38] Chr15:76603673 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.560del (p.Lys187fs)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003625317]	Chr15:76286373 [GRCh38] Chr15:76578714 [GRCh37] Chr15:15q24.2	pathogenic
NM_000126.4(ETFA):c.689dup (p.Asn230fs)	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV003475602]	Chr15:76283800..76283801 [GRCh38] Chr15:76576141..76576142 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.268+1G>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003475604]	Chr15:76292618 [GRCh38] Chr15:76584959 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.549C>T (p.Ala183=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003625100]	Chr15:76286384 [GRCh38] Chr15:76578725 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.734-8C>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003625425]	Chr15:76274502 [GRCh38] Chr15:76566843 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.269-15G>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003625772]	Chr15:76292528 [GRCh38] Chr15:76584869 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.864T>G (p.Ala288=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003623972]	Chr15:76231351 [GRCh38] Chr15:76523692 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.696G>A (p.Lys232=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003624598]	Chr15:76283794 [GRCh38] Chr15:76576135 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.37dup (p.Ala13fs)	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV003624646]	Chr15:76311351..76311352 [GRCh38] Chr15:76603692..76603693 [GRCh37] Chr15:15q24.3	pathogenic
NM_000126.4(ETFA):c.303G>A (p.Lys101=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003624060]	Chr15:76292479 [GRCh38] Chr15:76584820 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.351+18G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003624225]	Chr15:76292413 [GRCh38] Chr15:76584754 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.964-20C>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003624229]	Chr15:76216617 [GRCh38] Chr15:76508958 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.39+17A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003624668]	Chr15:76311333 [GRCh38] Chr15:76603674 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.734-9del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003624682]	Chr15:76274503 [GRCh38] Chr15:76566844 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.352-1G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003625195]	Chr15:76287946 [GRCh38] Chr15:76580287 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.351+20G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003623987]	Chr15:76292411 [GRCh38] Chr15:76584752 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.563-11A>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003625495]	Chr15:76285749 [GRCh38] Chr15:76578090 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.562+11A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003623979]	Chr15:76286360 [GRCh38] Chr15:76578701 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.351+2T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003623931]	Chr15:76292429 [GRCh38] Chr15:76584770 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.40-20_40-19dup	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV003623973]	Chr15:76295755..76295756 [GRCh38] Chr15:76588096..76588097 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.462A>G (p.Leu154=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003624728]	Chr15:76286471 [GRCh38] Chr15:76578812 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.452-13T>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003625528]	Chr15:76286494 [GRCh38] Chr15:76578835 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.322_323del (p.Ile108fs)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003624340]	Chr15:76292459..76292460 [GRCh38] Chr15:76584800..76584801 [GRCh37] Chr15:15q24.2	pathogenic
NM_000126.4(ETFA):c.817-8del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003624766]	Chr15:76231406 [GRCh38] Chr15:76523747 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.734-17A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003624856]	Chr15:76274511 [GRCh38] Chr15:76566852 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.126T>G (p.Thr42=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003624858]	Chr15:76295651 [GRCh38] Chr15:76587992 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.927A>G (p.Gln309=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003625545]	Chr15:76225885 [GRCh38] Chr15:76518226 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.268+15T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003624163]	Chr15:76292604 [GRCh38] Chr15:76584945 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.187-14T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003624208]	Chr15:76292714 [GRCh38] Chr15:76585055 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.268+12C>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003624838]	Chr15:76292607 [GRCh38] Chr15:76584948 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.426C>T (p.Asp142=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003625555]	Chr15:76287871 [GRCh38] Chr15:76580212 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.817-12_817-11del	microsatellite	Multiple acyl-CoA dehydrogenase deficiency [RCV003624301]	Chr15:76231409..76231410 [GRCh38] Chr15:76523750..76523751 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.352-7C>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003624907]	Chr15:76287952 [GRCh38] Chr15:76580293 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.665-15A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003624909]	Chr15:76283840 [GRCh38] Chr15:76576181 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.657A>G (p.Val219=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003625242]	Chr15:76285644 [GRCh38] Chr15:76577985 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.452-7G>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003625848]	Chr15:76286488 [GRCh38] Chr15:76578829 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.81G>A (p.Glu27=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003624400]	Chr15:76295696 [GRCh38] Chr15:76588037 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.452-17T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003624355]	Chr15:76286498 [GRCh38] Chr15:76578839 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.39+1G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003511830]	Chr15:76311349 [GRCh38] Chr15:76603690 [GRCh37] Chr15:15q24.3	likely pathogenic
NM_000126.4(ETFA):c.734-2A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003625606]	Chr15:76274496 [GRCh38] Chr15:76566837 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.33G>C (p.Arg11=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003625872]	Chr15:76311356 [GRCh38] Chr15:76603697 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.883-17_883-16del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003624972]	Chr15:76225945..76225946 [GRCh38] Chr15:76518286..76518287 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.516del (p.Phe173fs)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003475597]	Chr15:76286417 [GRCh38] Chr15:76578758 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.266del (p.Pro89fs)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003475606]	Chr15:76292621 [GRCh38] Chr15:76584962 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.298_325del (p.Gln100fs)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003467944]	Chr15:76292457..76292484 [GRCh38] Chr15:76584798..76584825 [GRCh37] Chr15:15q24.2	pathogenic\|likely pathogenic
NM_000126.4(ETFA):c.193C>T (p.Gln65Ter)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003475599]	Chr15:76292694 [GRCh38] Chr15:76585035 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.269-5C>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003513730]	Chr15:76292518 [GRCh38] Chr15:76584859 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.351+1G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003512715]	Chr15:76292430 [GRCh38] Chr15:76584771 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.733+9A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003513168]	Chr15:76283748 [GRCh38] Chr15:76576089 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.311_312del (p.Asn104fs)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003626063]	Chr15:76292470..76292471 [GRCh38] Chr15:76584811..76584812 [GRCh37] Chr15:15q24.2	pathogenic
NM_000126.4(ETFA):c.40-17C>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003513481]	Chr15:76295754 [GRCh38] Chr15:76588095 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.40-19T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003513571]	Chr15:76295756 [GRCh38] Chr15:76588097 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.39+7C>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003512967]	Chr15:76311343 [GRCh38] Chr15:76603684 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.817-5T>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003512978]	Chr15:76231403 [GRCh38] Chr15:76523744 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.665-16dup	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV003513751]	Chr15:76283840..76283841 [GRCh38] Chr15:76576181..76576182 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.963+14G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003513754]	Chr15:76225835 [GRCh38] Chr15:76518176 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.186+7A>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003513425]	Chr15:76295584 [GRCh38] Chr15:76587925 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.452-7G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003511728]	Chr15:76286488 [GRCh38] Chr15:76578829 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.451+15A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003625929]	Chr15:76287831 [GRCh38] Chr15:76580172 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.687G>A (p.Glu229=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003625938]	Chr15:76283803 [GRCh38] Chr15:76576144 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.665-12T>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003511867]	Chr15:76283837 [GRCh38] Chr15:76576178 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.282A>G (p.Pro94=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003511971]	Chr15:76292500 [GRCh38] Chr15:76584841 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.817-2A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003512928]	Chr15:76231400 [GRCh38] Chr15:76523741 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.593_594del (p.Glu198fs)	microsatellite	Multiple acyl-CoA dehydrogenase deficiency [RCV003512635]	Chr15:76285707..76285708 [GRCh38] Chr15:76578048..76578049 [GRCh37] Chr15:15q24.2	pathogenic
NM_000126.4(ETFA):c.721C>T (p.Leu241=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003512875]	Chr15:76283769 [GRCh38] Chr15:76576110 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.39+1G>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003513097]	Chr15:76311349 [GRCh38] Chr15:76603690 [GRCh37] Chr15:15q24.3	likely pathogenic
NM_000126.4(ETFA):c.51A>G (p.Leu17=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003831224]	Chr15:76295726 [GRCh38] Chr15:76588067 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.964-18T>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003513294]	Chr15:76216615 [GRCh38] Chr15:76508956 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.269-15G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002090358]	Chr15:76292528 [GRCh38] Chr15:76584869 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.665-17dup	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV002087970]	Chr15:76283841..76283842 [GRCh38] Chr15:76576182..76576183 [GRCh37] Chr15:15q24.2	benign
NM_000126.4(ETFA):c.654G>A (p.Val218=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002126984]	Chr15:76285647 [GRCh38] Chr15:76577988 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.562+16G>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002190237]	Chr15:76286355 [GRCh38] Chr15:76578696 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.883-9dup	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV002111228]	Chr15:76225937..76225938 [GRCh38] Chr15:76518278..76518279 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.324C>A (p.Ile108=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002087390]	Chr15:76292458 [GRCh38] Chr15:76584799 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.945A>C (p.Ile315=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002172035]	Chr15:76225867 [GRCh38] Chr15:76518208 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.15G>A (p.Ala5=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002092618]	Chr15:76311374 [GRCh38] Chr15:76603715 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.297T>C (p.Thr99=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002133867]	Chr15:76292485 [GRCh38] Chr15:76584826 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.563-8G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002093451]	Chr15:76285746 [GRCh38] Chr15:76578087 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.429A>C (p.Thr143=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002220288]	Chr15:76287868 [GRCh38] Chr15:76580209 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.21G>A (p.Pro7=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002142094]	Chr15:76311368 [GRCh38] Chr15:76603709 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.264T>A (p.Leu88=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002142479]	Chr15:76292623 [GRCh38] Chr15:76584964 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.30C>G (p.Leu10=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002123203]	Chr15:76311359 [GRCh38] Chr15:76603700 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.883-4A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002201876]	Chr15:76225933 [GRCh38] Chr15:76518274 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.972T>C (p.Pro324=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002198691]	Chr15:76216589 [GRCh38] Chr15:76508930 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.964-4G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002082507]	Chr15:76216601 [GRCh38] Chr15:76508942 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.468A>C (p.Thr156=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002153896]	Chr15:76286465 [GRCh38] Chr15:76578806 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.54A>G (p.Arg18=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002121738]	Chr15:76295723 [GRCh38] Chr15:76588064 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.883-14T>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002183514]	Chr15:76225943 [GRCh38] Chr15:76518284 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.24G>C (p.Gly8=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002202245]	Chr15:76311365 [GRCh38] Chr15:76603706 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.351+10T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002118755]	Chr15:76292421 [GRCh38] Chr15:76584762 [GRCh37] Chr15:15q24.2	likely benign
NC_000015.9:g.(?_76523654)_(76523759_?)del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003119338]	Chr15:76523654..76523759 [GRCh37] Chr15:15q24.2	uncertain significance
NC_000015.9:g.(?_76518170)_(76518290_?)del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003119339]	Chr15:76518170..76518290 [GRCh37] Chr15:15q24.2	uncertain significance
NC_000015.9:g.(?_76508900)_(76518290_?)del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003119340]	Chr15:76508900..76518290 [GRCh37] Chr15:15q24.2	uncertain significance
NC_000015.9:g.(?_76580177)_(76585051_?)del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003119341]	Chr15:76580177..76585051 [GRCh37] Chr15:15q24.2	pathogenic
NC_000015.9:g.(?_76508900)_(76603729_?)dup	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV003119342]	Chr15:76508900..76603729 [GRCh37] Chr15:15q24.2-24.3	uncertain significance
NC_000015.9:g.(?_76603671)_(76603729_?)dup	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV003119343]	Chr15:76603671..76603729 [GRCh37] Chr15:15q24.3	uncertain significance
NM_000126.4(ETFA):c.811G>A (p.Ala271Thr)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003121529]	Chr15:76274417 [GRCh38] Chr15:76566758 [GRCh37] Chr15:15q24.2	uncertain significance
GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1	copy number loss	not provided [RCV002474580]	Chr15:74353736..77884397 [GRCh37] Chr15:15q24.1-24.3	pathogenic
NM_000126.4(ETFA):c.974A>G (p.Glu325Gly)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002838000]	Chr15:76216587 [GRCh38] Chr15:76508928 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.405C>G (p.Ile135Met)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002304361]	Chr15:76287892 [GRCh38] Chr15:76580233 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.556G>T (p.Glu186Ter)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002862723]	Chr15:76286377 [GRCh38] Chr15:76578718 [GRCh37] Chr15:15q24.2	pathogenic
NM_000126.4(ETFA):c.513A>G (p.Thr171=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002861981]	Chr15:76286420 [GRCh38] Chr15:76578761 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV002614093]	Chr15:76231381..76231382 [GRCh38] Chr15:76523722..76523723 [GRCh37] Chr15:15q24.2	pathogenic\|likely pathogenic
NM_000126.4(ETFA):c.461dup (p.Cys155fs)	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV002816367]	Chr15:76286471..76286472 [GRCh38] Chr15:76578812..76578813 [GRCh37] Chr15:15q24.2	pathogenic
NM_000126.4(ETFA):c.805A>T (p.Ile269Leu)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002794781]	Chr15:76274423 [GRCh38] Chr15:76566764 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.69_140del (p.Val24_Leu47del)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV002685707]	Chr15:76295637..76295708 [GRCh38] Chr15:76587978..76588049 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.187-3T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002617453]	Chr15:76292703 [GRCh38] Chr15:76585044 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.322A>G (p.Ile108Val)	single nucleotide variant	not provided [RCV002461822]	Chr15:76292460 [GRCh38] Chr15:76584801 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.917C>T (p.Pro306Leu)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002785705]	Chr15:76225895 [GRCh38] Chr15:76518236 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.733+18A>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002953583]	Chr15:76283739 [GRCh38] Chr15:76576080 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.631G>A (p.Glu211Lys)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002592413]	Chr15:76285670 [GRCh38] Chr15:76578011 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.883-18T>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002571849]	Chr15:76225947 [GRCh38] Chr15:76518288 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.452-9A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002705871]	Chr15:76286490 [GRCh38] Chr15:76578831 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.451+12A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002638517]	Chr15:76287834 [GRCh38] Chr15:76580175 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.136C>T (p.Arg46Cys)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003079793]	Chr15:76295641 [GRCh38] Chr15:76587982 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.345C>A (p.Phe115Leu)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002823822]	Chr15:76292437 [GRCh38] Chr15:76584778 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.438A>G (p.Arg146=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002866366]	Chr15:76287859 [GRCh38] Chr15:76580200 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.934G>A (p.Asp312Asn)	single nucleotide variant	Inborn genetic diseases [RCV004071845]\|Multiple acyl-CoA dehydrogenase deficiency [RCV003079632]	Chr15:76225878 [GRCh38] Chr15:76518219 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.268+11C>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002976366]	Chr15:76292608 [GRCh38] Chr15:76584949 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.323T>C (p.Ile108Thr)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002791315]	Chr15:76292459 [GRCh38] Chr15:76584800 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.562+10C>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003022372]	Chr15:76286361 [GRCh38] Chr15:76578702 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.775A>G (p.Asn259Asp)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002786443]	Chr15:76274453 [GRCh38] Chr15:76566794 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.668G>A (p.Arg223Gln)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003083699]\|not provided [RCV003235767]	Chr15:76283822 [GRCh38] Chr15:76576163 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.665-4T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002666978]	Chr15:76283829 [GRCh38] Chr15:76576170 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.866G>C (p.Gly289Ala)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003090067]	Chr15:76231349 [GRCh38] Chr15:76523690 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.471G>A (p.Val157=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002599073]	Chr15:76286462 [GRCh38] Chr15:76578803 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.683G>A (p.Gly228Glu)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002716243]	Chr15:76283807 [GRCh38] Chr15:76576148 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.-11_16del (p.Met1_Ala6del)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003048809]	Chr15:76311373..76311399 [GRCh38] Chr15:76603714..76603740 [GRCh37] Chr15:15q24.3	uncertain significance
NM_000126.4(ETFA):c.939T>C (p.Tyr313=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002811908]	Chr15:76225873 [GRCh38] Chr15:76518214 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.32G>A (p.Arg11Gln)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003066888]	Chr15:76311357 [GRCh38] Chr15:76603698 [GRCh37] Chr15:15q24.3	uncertain significance
NM_000126.4(ETFA):c.334G>A (p.Ala112Thr)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV002653197]	Chr15:76292448 [GRCh38] Chr15:76584789 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.284dup (p.Leu95fs)	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV002942141]	Chr15:76292497..76292498 [GRCh38] Chr15:76584838..76584839 [GRCh37] Chr15:15q24.2	pathogenic\|likely pathogenic
NC_000015.9:g.(76518271_76523673)_(76523740_76566752)del	deletion	not specified [RCV003226632]	Chr15:76523673..76523740 [GRCh37] Chr15:15q24.2	uncertain significance
GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	copy number gain	not provided [RCV003222839]	Chr15:67358491..91644328 [GRCh37] Chr15:15q22.33-26.1	pathogenic
NM_000126.4(ETFA):c.731C>T (p.Ala244Val)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003319149]	Chr15:76283759 [GRCh38] Chr15:76576100 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.187G>T (p.Val63Leu)	single nucleotide variant	not provided [RCV003334182]	Chr15:76292700 [GRCh38] Chr15:76585041 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.733G>A (p.Val245Ile)	single nucleotide variant	not specified [RCV003332027]	Chr15:76283757 [GRCh38] Chr15:76576098 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.365G>A (p.Arg122Lys)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003475600]	Chr15:76287932 [GRCh38] Chr15:76580273 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.650_653dup (p.Val219fs)	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV003475605]	Chr15:76285647..76285648 [GRCh38] Chr15:76577988..76577989 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.665-1G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003475608]	Chr15:76283826 [GRCh38] Chr15:76576167 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.597G>A (p.Trp199Ter)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003624218]	Chr15:76285704 [GRCh38] Chr15:76578045 [GRCh37] Chr15:15q24.2	pathogenic
NM_000126.4(ETFA):c.964-4G>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003625124]	Chr15:76216601 [GRCh38] Chr15:76508942 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.664+16A>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003873906]	Chr15:76285621 [GRCh38] Chr15:76577962 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.177del (p.Lys59fs)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003625735]	Chr15:76295600 [GRCh38] Chr15:76587941 [GRCh37] Chr15:15q24.2	pathogenic\|likely pathogenic
NM_000126.4(ETFA):c.665-18T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003624237]	Chr15:76283843 [GRCh38] Chr15:76576184 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.39+9G>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003624322]	Chr15:76311341 [GRCh38] Chr15:76603682 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.451+1G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003475610]	Chr15:76287845 [GRCh38] Chr15:76580186 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.226del (p.Val76fs)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003475598]	Chr15:76292661 [GRCh38] Chr15:76585002 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.664+2dup	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV003475607]	Chr15:76285634..76285635 [GRCh38] Chr15:76577975..76577976 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.371_372dup (p.Ala125fs)	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV003476349]	Chr15:76287924..76287925 [GRCh38] Chr15:76580265..76580266 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.238C>T (p.Gln80Ter)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003475601]	Chr15:76292649 [GRCh38] Chr15:76584990 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.375_379delinsAAA (p.Lys126fs)	indel	Multiple acyl-CoA dehydrogenase deficiency [RCV003475603]	Chr15:76287918..76287922 [GRCh38] Chr15:76580259..76580263 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003476350]	Chr15:76292683..76292684 [GRCh38] Chr15:76585024..76585025 [GRCh37] Chr15:15q24.2	pathogenic\|likely pathogenic
NM_000126.4(ETFA):c.268+14G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003511504]	Chr15:76292605 [GRCh38] Chr15:76584946 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.213A>G (p.Ala71=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003511676]	Chr15:76292674 [GRCh38] Chr15:76585015 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.352-16C>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003831275]	Chr15:76287961 [GRCh38] Chr15:76580302 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.562+15G>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003876003]	Chr15:76286356 [GRCh38] Chr15:76578697 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.734-1_744del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV003512439]	Chr15:76274484..76274495 [GRCh38] Chr15:76566825..76566836 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.269-2A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003512741]	Chr15:76292515 [GRCh38] Chr15:76584856 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.39+11A>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003512765]	Chr15:76311339 [GRCh38] Chr15:76603680 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.69G>A (p.Leu23=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003876647]	Chr15:76295708 [GRCh38] Chr15:76588049 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.352-19C>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003882169]	Chr15:76287964 [GRCh38] Chr15:76580305 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.630A>G (p.Pro210=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003512503]	Chr15:76285671 [GRCh38] Chr15:76578012 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.186+8A>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003512509]	Chr15:76295583 [GRCh38] Chr15:76587924 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.750T>C (p.Ala250=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003513063]	Chr15:76274478 [GRCh38] Chr15:76566819 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.562+18G>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003513022]	Chr15:76286353 [GRCh38] Chr15:76578694 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.883-18T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003513510]	Chr15:76225947 [GRCh38] Chr15:76518288 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.297T>G (p.Thr99=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003511759]	Chr15:76292485 [GRCh38] Chr15:76584826 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.288T>C (p.Ile96=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003513132]	Chr15:76292494 [GRCh38] Chr15:76584835 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.733+16T>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003511799]	Chr15:76283741 [GRCh38] Chr15:76576082 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.664+20T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003511841]	Chr15:76285617 [GRCh38] Chr15:76577958 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.660T>C (p.Ser220=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003513208]	Chr15:76285641 [GRCh38] Chr15:76577982 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.99A>G (p.Leu33=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003834984]	Chr15:76295678 [GRCh38] Chr15:76588019 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.562+13T>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003810698]	Chr15:76286358 [GRCh38] Chr15:76578699 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.39+19G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003834992]	Chr15:76311331 [GRCh38] Chr15:76603672 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.451+17G>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003856944]\|not provided [RCV004703334]	Chr15:76287829 [GRCh38] Chr15:76580170 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.40-21_40-19dup	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV003818222]	Chr15:76295755..76295756 [GRCh38] Chr15:76588096..76588097 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.269-19A>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003818405]	Chr15:76292532 [GRCh38] Chr15:76584873 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.187-18C>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003844229]	Chr15:76292718 [GRCh38] Chr15:76585059 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.187-17T>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003854243]	Chr15:76292717 [GRCh38] Chr15:76585058 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.964-1G>A	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV004732510]	Chr15:76216598 [GRCh38] Chr15:76508939 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.883-1_885del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV004764436]	Chr15:76225927..76225930 [GRCh38] Chr15:76518268..76518271 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.422del (p.Pro141fs)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV005003210]	Chr15:76287875 [GRCh38] Chr15:76580216 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.718C>A (p.Gln240Lys)	single nucleotide variant	Inborn genetic diseases [RCV004982259]	Chr15:76283772 [GRCh38] Chr15:76576113 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.715G>A (p.Asp239Asn)	single nucleotide variant	Inborn genetic diseases [RCV004982260]	Chr15:76283775 [GRCh38] Chr15:76576116 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.415A>G (p.Lys139Glu)	single nucleotide variant	Inborn genetic diseases [RCV004982258]	Chr15:76287882 [GRCh38] Chr15:76580223 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.510_511del (p.Thr171fs)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV005003209]	Chr15:76286422..76286423 [GRCh38] Chr15:76578763..76578764 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.781A>G (p.Met261Val)	single nucleotide variant	not specified [RCV005088462]	Chr15:76274447 [GRCh38] Chr15:76566788 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.452-12del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV005107173]	Chr15:76286493 [GRCh38] Chr15:76578834 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.817-15C>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV005175649]	Chr15:76231413 [GRCh38] Chr15:76523754 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.137G>A (p.Arg46His)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV005150998]	Chr15:76295640 [GRCh38] Chr15:76587981 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.817-7A>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV005121384]	Chr15:76231405 [GRCh38] Chr15:76523746 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.626G>A (p.Arg209Gln)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV005206425]	Chr15:76285675 [GRCh38] Chr15:76578016 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.269-17A>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV005136321]	Chr15:76292530 [GRCh38] Chr15:76584871 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.381T>G (p.Leu127=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV005159449]	Chr15:76287916 [GRCh38] Chr15:76580257 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.276G>A (p.Leu92=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV005121715]	Chr15:76292506 [GRCh38] Chr15:76584847 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.563-12T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV005115859]	Chr15:76285750 [GRCh38] Chr15:76578091 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.336A>G (p.Ala112=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV005115228]	Chr15:76292446 [GRCh38] Chr15:76584787 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.373_376del (p.Ala125fs)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV005198891]	Chr15:76287921..76287924 [GRCh38] Chr15:76580262..76580265 [GRCh37] Chr15:15q24.2	pathogenic
NM_000126.4(ETFA):c.39+14G>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003511647]	Chr15:76311336 [GRCh38] Chr15:76603677 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.390C>T (p.Ala130=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003512818]	Chr15:76287907 [GRCh38] Chr15:76580248 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.869T>G (p.Met290Arg)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV005084649]	Chr15:76231346 [GRCh38] Chr15:76523687 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.867G>A (p.Gly289=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003857595]	Chr15:76231348 [GRCh38] Chr15:76523689 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.733+8T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003867286]	Chr15:76283749 [GRCh38] Chr15:76576090 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.261A>G (p.Leu87=)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003818695]	Chr15:76292626 [GRCh38] Chr15:76584967 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.665-14T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003856910]	Chr15:76283839 [GRCh38] Chr15:76576180 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.40-21_40-18dup	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV003867736]	Chr15:76295754..76295755 [GRCh38] Chr15:76588095..76588096 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.882+14A>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV003823269]	Chr15:76231319 [GRCh38] Chr15:76523660 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.-8C>T	single nucleotide variant	ETFA-related disorder [RCV003894332]	Chr15:76311396 [GRCh38] Chr15:76603737 [GRCh37] Chr15:15q24.3	likely benign
NM_000126.4(ETFA):c.465T>A (p.Cys155Ter)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV004576398]	Chr15:76286468 [GRCh38] Chr15:76578809 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.665G>T (p.Gly222Val)	single nucleotide variant	Inborn genetic diseases [RCV004383100]	Chr15:76283825 [GRCh38] Chr15:76576166 [GRCh37] Chr15:15q24.2	uncertain significance
NC_000015.9:g.(?_76566733)_(76566855_?)del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV004583000]	Chr15:76566733..76566855 [GRCh37] Chr15:15q24.2	pathogenic
NC_000015.9:g.(?_76566733)_(76603729_?)del	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV004583001]	Chr15:76566733..76603729 [GRCh37] Chr15:15q24.2-24.3	pathogenic
NC_000015.9:g.(?_74219125)_(77329517_?)del	deletion	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome [RCV004583017]	Chr15:74219125..77329517 [GRCh37] Chr15:15q24.1-24.3	uncertain significance
NM_000126.4(ETFA):c.83A>G (p.His28Arg)	single nucleotide variant	Inborn genetic diseases [RCV004622709]	Chr15:76295694 [GRCh38] Chr15:76588035 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.451+1G>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV004576400]	Chr15:76287845 [GRCh38] Chr15:76580186 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.347G>A (p.Gly116Glu)	single nucleotide variant	not specified [RCV004690571]	Chr15:76292435 [GRCh38] Chr15:76584776 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.703T>C (p.Tyr235His)	single nucleotide variant	ETFA-related disorder [RCV004756763]	Chr15:76283787 [GRCh38] Chr15:76576128 [GRCh37] Chr15:15q24.2	uncertain significance
NM_000126.4(ETFA):c.1A>G (p.Met1Val)	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV005003211]	Chr15:76311388 [GRCh38] Chr15:76603729 [GRCh37] Chr15:15q24.3	pathogenic
NM_000126.4(ETFA):c.629dup (p.Glu211fs)	duplication	Multiple acyl-CoA dehydrogenase deficiency [RCV005003207]	Chr15:76285671..76285672 [GRCh38] Chr15:76578012..76578013 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.562+1G>T	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV005003208]	Chr15:76286370 [GRCh38] Chr15:76578711 [GRCh37] Chr15:15q24.2	likely pathogenic
NM_000126.4(ETFA):c.665-19T>C	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV005138063]	Chr15:76283844 [GRCh38] Chr15:76576185 [GRCh37] Chr15:15q24.2	likely benign
NM_000126.4(ETFA):c.499del (p.Ser167fs)	deletion	Multiple acyl-CoA dehydrogenase deficiency [RCV005120958]	Chr15:76286434 [GRCh38] Chr15:76578775 [GRCh37] Chr15:15q24.2	pathogenic
NM_000126.4(ETFA):c.817-9T>G	single nucleotide variant	Multiple acyl-CoA dehydrogenase deficiency [RCV005122952]	Chr15:76231407 [GRCh38] Chr15:76523748 [GRCh37] Chr15:15q24.2	likely benign

Predicted Target Of

	Summary Value
Count of predictions:	2456
Count of miRNA genes:	925
Interacting mature miRNAs:	1098
Transcripts:	ENST00000267950, ENST00000433983, ENST00000557943, ENST00000557975, ENST00000558803, ENST00000559075, ENST00000559386, ENST00000559602, ENST00000559758, ENST00000559973, ENST00000560044, ENST00000560179, ENST00000560309, ENST00000560345, ENST00000560595, ENST00000560726, ENST00000560816, ENST00000560899, ENST00000561092, ENST00000565910
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
406957825	GWAS606801_H	response to xenobiotic stimulus QTL GWAS606801 (human)		0.0000007	response to xenobiotic stimulus		15	76254592	76254593	Human
597137108	GWAS1233182_H	butyrylcarnitine measurement QTL GWAS1233182 (human)		1e-16	butyrylcarnitine measurement		15	76243823	76243825	Human
596958704	GWAS1078223_H	carnitine measurement QTL GWAS1078223 (human)		3e-29	carnitine measurement		15	76286893	76286894	Human
597313308	GWAS1409382_H	dimethylglycine measurement QTL GWAS1409382 (human)		3e-11	dimethylglycine measurement		15	76246118	76246119	Human
597319100	GWAS1415174_H	isobutyrylglycine measurement QTL GWAS1415174 (human)		2e-14	isobutyrylglycine measurement		15	76295436	76295437	Human
597325213	GWAS1421287_H	glutarylcarnitine (C5-DC) measurement QTL GWAS1421287 (human)		1e-15	glutarylcarnitine (C5-DC) measurement		15	76246118	76246119	Human
597140848	GWAS1236922_H	isobutyrylcarnitine measurement QTL GWAS1236922 (human)		1e-12	isobutyrylcarnitine measurement		15	76267924	76267925	Human
407041550	GWAS690526_H	central nervous system cancer QTL GWAS690526 (human)		6e-09	central nervous system integrity trait (VT:0010772)		15	76286421	76286422	Human
597487729	GWAS1583803_H	carnitine measurement QTL GWAS1583803 (human)		3e-29	blood carnitine amount (VT:0003977)		15	76286893	76286894	Human
597035271	GWAS1131345_H	heel bone mineral density QTL GWAS1131345 (human)		6e-09	heel bone mineral density	bone mineral density (CMO:0001226)	15	76262650	76262651	Human
597504940	GWAS1601014_H	glutarylcarnitine (C5-DC) measurement QTL GWAS1601014 (human)		3e-19	glutarylcarnitine (C5-DC) measurement		15	76286893	76286894	Human
597021223	GWAS1117297_H	central nervous system cancer, glioma QTL GWAS1117297 (human)		2e-13	central nervous system integrity trait (VT:0010772)		15	76246118	76246119	Human
597137380	GWAS1233454_H	dimethylglycine measurement QTL GWAS1233454 (human)		2e-21	dimethylglycine measurement		15	76262449	76262450	Human
597501129	GWAS1597203_H	butyrylcarnitine (C4) measurement QTL GWAS1597203 (human)		9e-12	butyrylcarnitine (C4) measurement		15	76286893	76286894	Human
597504939	GWAS1601013_H	isovalerylcarnitine (C5) measurement QTL GWAS1601013 (human)		1e-11	isovalerylcarnitine (C5) measurement		15	76286893	76286894	Human
597314114	GWAS1410188_H	glutarylcarnitine (C5-DC) measurement QTL GWAS1410188 (human)		9e-18	glutarylcarnitine (C5-DC) measurement		15	76246118	76246119	Human
597429317	GWAS1525391_H	diverticular disease QTL GWAS1525391 (human)		0.000007	diverticular disease		15	76286749	76286750	Human
597021227	GWAS1117301_H	central nervous system cancer, glioma QTL GWAS1117301 (human)		0.0000001	central nervous system integrity trait (VT:0010772)		15	76246118	76246119	Human
597137736	GWAS1233810_H	ethylmalonate measurement QTL GWAS1233810 (human)		9e-18	ethylmalonate measurement		15	76245135	76245136	Human

STS-J04058

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	76,508,722 - 76,508,907	UniSTS	GRCh37
Build 36	15	74,295,777 - 74,295,962	RGD	NCBI36
Celera	15	53,434,819 - 53,435,004	RGD
Cytogenetic Map	15	q23-q25	UniSTS
HuRef	15	53,265,313 - 53,265,498	UniSTS
GeneMap99-GB4 RH Map	15	268.81	UniSTS

D15S922

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	76,517,500 - 76,517,625	UniSTS	GRCh37
Build 36	15	74,304,555 - 74,304,680	RGD	NCBI36
Celera	15	53,443,600 - 53,443,725	RGD
Cytogenetic Map	15	q23-q25	UniSTS
HuRef	15	53,274,094 - 53,274,219	UniSTS
Whitehead-RH Map	15	281.2	UniSTS
Whitehead-YAC Contig Map	15		UniSTS

STS-H78599

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	76,522,056 - 76,522,197	UniSTS	GRCh37
Build 36	15	74,309,111 - 74,309,252	RGD	NCBI36
Celera	15	53,448,167 - 53,448,308	RGD
Cytogenetic Map	15	q23-q25	UniSTS
HuRef	15	53,278,697 - 53,278,838	UniSTS
GeneMap99-GB4 RH Map	15	263.73	UniSTS

WI-18782

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	41,871,237 - 41,871,365	UniSTS	GRCh37
GRCh37	15	76,549,585 - 76,550,566	UniSTS	GRCh37
Build 36	15	39,658,529 - 39,658,657	RGD	NCBI36
Celera	15	53,475,803 - 53,476,788	UniSTS
Celera	15	18,639,204 - 18,639,332	RGD
Cytogenetic Map	15	q23-q25	UniSTS
Cytogenetic Map	15	q15	UniSTS
HuRef	15	53,306,227 - 53,307,208	UniSTS
HuRef	15	18,719,436 - 18,719,564	UniSTS
GeneMap99-GB4 RH Map	15	147.97	UniSTS
Whitehead-RH Map	15	105.8	UniSTS
NCBI RH Map	15	141.0	UniSTS

D15S925

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	76,528,301 - 76,528,486	UniSTS	GRCh37
Build 36	15	74,315,356 - 74,315,541	RGD	NCBI36
Celera	15	53,454,193 - 53,454,378	RGD
Cytogenetic Map	15	q23-q25	UniSTS
HuRef	15	53,284,991 - 53,285,176	UniSTS
Whitehead-RH Map	15	253.7	UniSTS
Whitehead-YAC Contig Map	15		UniSTS

WI-20018

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	41,871,240 - 41,871,497	UniSTS	GRCh37
GRCh37	15	76,549,453 - 76,550,564	UniSTS	GRCh37
Build 36	15	39,658,532 - 39,658,789	RGD	NCBI36
Celera	15	53,475,671 - 53,476,786	UniSTS
Celera	15	18,639,207 - 18,639,464	RGD
Cytogenetic Map	15	q15	UniSTS
Cytogenetic Map	15	q23-q25	UniSTS
HuRef	15	18,719,439 - 18,719,696	UniSTS
HuRef	15	53,306,095 - 53,307,206	UniSTS
GeneMap99-GB4 RH Map	15	146.34	UniSTS
Whitehead-RH Map	15	92.1	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NG_007077	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_000126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001127716	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_007064434	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_008488929	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_931766	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA557337	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC027243	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC091100	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH011801	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ224002	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292979	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300044	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC015526	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC029995	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC034156	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC095457	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG261160	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT009796	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU176141	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471136	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068263	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D28380	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA838974	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GQ891449	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	J04058	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178046	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178047	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178048	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000267950 ⟹ ENSP00000267950

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,216,250 - 76,311,448 (-)	Ensembl

Ensembl Acc Id:

ENST00000433983 ⟹ ENSP00000399273

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,216,084 - 76,311,404 (-)	Ensembl

Ensembl Acc Id:

ENST00000557943 ⟹ ENSP00000452762

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,215,353 - 76,311,469 (-)	Ensembl

Ensembl Acc Id:

ENST00000557975

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,216,130 - 76,228,249 (-)	Ensembl

Ensembl Acc Id:

ENST00000558803

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,274,133 - 76,283,841 (-)	Ensembl

Ensembl Acc Id:

ENST00000559075

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,230,504 - 76,311,412 (-)	Ensembl

Ensembl Acc Id:

ENST00000559386 ⟹ ENSP00000452777

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,225,857 - 76,311,469 (-)	Ensembl

Ensembl Acc Id:

ENST00000559602 ⟹ ENSP00000452659

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,216,483 - 76,311,414 (-)	Ensembl

Ensembl Acc Id:

ENST00000559758

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,274,176 - 76,292,622 (-)	Ensembl

Ensembl Acc Id:

ENST00000559973 ⟹ ENSP00000454194

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,216,559 - 76,292,491 (-)	Ensembl

Ensembl Acc Id:

ENST00000560044 ⟹ ENSP00000452942

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,216,539 - 76,311,469 (-)	Ensembl

Ensembl Acc Id:

ENST00000560179

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,216,314 - 76,228,172 (-)	Ensembl

Ensembl Acc Id:

ENST00000560309 ⟹ ENSP00000453753

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,286,406 - 76,311,443 (-)	Ensembl

Ensembl Acc Id:

ENST00000560345 ⟹ ENSP00000453017

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,274,419 - 76,292,698 (-)	Ensembl

Ensembl Acc Id:

ENST00000560595 ⟹ ENSP00000453345

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,216,315 - 76,311,469 (-)	Ensembl

Ensembl Acc Id:

ENST00000560726 ⟹ ENSP00000453098

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,216,468 - 76,311,466 (-)	Ensembl

Ensembl Acc Id:

ENST00000560816

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,245,212 - 76,286,491 (-)	Ensembl

Ensembl Acc Id:

ENST00000560899 ⟹ ENSP00000453422

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,225,905 - 76,311,414 (-)	Ensembl

Ensembl Acc Id:

ENST00000561092

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,287,768 - 76,311,402 (-)	Ensembl

Ensembl Acc Id:

ENST00000565910 ⟹ ENSP00000458001

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,216,295 - 76,311,730 (-)	Ensembl

Ensembl Acc Id:

ENST00000685118 ⟹ ENSP00000509473

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,225,910 - 76,311,439 (-)	Ensembl

Ensembl Acc Id:

ENST00000685548 ⟹ ENSP00000510343

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,216,287 - 76,311,730 (-)	Ensembl

Ensembl Acc Id:

ENST00000685863 ⟹ ENSP00000509361

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,215,357 - 76,311,469 (-)	Ensembl

Ensembl Acc Id:

ENST00000687293 ⟹ ENSP00000509928

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,215,357 - 76,311,730 (-)	Ensembl

Ensembl Acc Id:

ENST00000687975 ⟹ ENSP00000508690

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,215,357 - 76,311,432 (-)	Ensembl

Ensembl Acc Id:

ENST00000688154 ⟹ ENSP00000510637

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,216,314 - 76,311,469 (-)	Ensembl

Ensembl Acc Id:

ENST00000688389 ⟹ ENSP00000510491

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,215,357 - 76,311,730 (-)	Ensembl

Ensembl Acc Id:

ENST00000688637

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,227,721 - 76,311,469 (-)	Ensembl

Ensembl Acc Id:

ENST00000688908 ⟹ ENSP00000510242

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,215,357 - 76,311,392 (-)	Ensembl

Ensembl Acc Id:

ENST00000689120

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,281,936 - 76,287,016 (-)	Ensembl

Ensembl Acc Id:

ENST00000689730 ⟹ ENSP00000510006

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,215,357 - 76,311,469 (-)	Ensembl

Ensembl Acc Id:

ENST00000689739

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,230,716 - 76,311,469 (-)	Ensembl

Ensembl Acc Id:

ENST00000690610 ⟹ ENSP00000510473

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,188,555 - 76,311,475 (-)	Ensembl

Ensembl Acc Id:

ENST00000691021 ⟹ ENSP00000510805

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,215,379 - 76,311,472 (-)	Ensembl

Ensembl Acc Id:

ENST00000691071

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,230,731 - 76,295,637 (-)	Ensembl

Ensembl Acc Id:

ENST00000691695 ⟹ ENSP00000509402

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,215,357 - 76,311,469 (-)	Ensembl

Ensembl Acc Id:

ENST00000692691 ⟹ ENSP00000508808

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,215,357 - 76,311,730 (-)	Ensembl

Ensembl Acc Id:

ENST00000693064 ⟹ ENSP00000510720

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	15	76,215,357 - 76,311,418 (-)	Ensembl

RefSeq Acc Id:

NM_000126 ⟹ NP_000117

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	76,215,353 - 76,311,469 (-)	NCBI
GRCh37	15	76,508,628 - 76,603,810 (-)	ENTREZGENE
Build 36	15	74,295,636 - 74,390,865 (-)	NCBI Archive
HuRef	15	53,265,219 - 53,360,736 (-)	ENTREZGENE
CHM1_1	15	76,628,067 - 76,723,216 (-)	NCBI
T2T-CHM13v2.0	15	74,086,268 - 74,182,563 (-)	NCBI

Sequence:

show sequence

ATTAGGTGACTGGCTGAGGCGGCGCCAGTTGGCCGGGCACGGGGCTGCTGTAAGGCCGAGGTTGCGGCGGAAGCGGAGACCATGTTCCGAGCGGCGGCTCCGGGGCAGCTCCGGCGGGCGGCCTCATT
GCTACGATTTCAGAGTACCCTGGTAATAGCTGAGCATGCAAATGATTCCCTAGCACCCATTACTTTAAATACCATTACTGCAGCCACACGCCTTGGAGGTGAAGTGTCCTGCTTAGTAGCTGGAACCA
AATGTGACAAGGTGGCACAAGATCTCTGTAAAGTAGCAGGCATAGCAAAAGTTCTGGTGGCTCAGCATGATGTGTACAAAGGCCTACTTCCAGAGGAACTGACACCATTGATTTTGGCAACTCAGAAG
CAGTTCAATTACACACACATCTGTGCTGGAGCATCTGCCTTCGGAAAGAACCTTTTGCCCAGAGTAGCAGCCAAACTTGAGGTTGCCCCGATTTCTGACATCATTGCAATCAAGTCACCTGACACATT
TGTGAGAACTATTTATGCAGGAAATGCTCTATGTACAGTGAAGTGTGATGAGAAAGTGAAAGTGTTTTCTGTCCGTGGAACATCCTTTGATGCTGCAGCAACAAGTGGCGGTAGTGCCAGTTCAGAAA
AGGCATCAAGTACTTCACCAGTGGAAATATCAGAGTGGCTTGACCAGAAATTAACAAAAAGTGATCGACCAGAGCTAACAGGTGCCAAAGTGGTGGTATCTGGTGGTCGAGGCTTGAAGAGTGGAGAG
AACTTTAAGTTGTTATATGACTTGGCAGATCAACTACATGCTGCAGTTGGTGCTTCCCGTGCTGCTGTTGATGCTGGCTTTGTTCCCAATGACATGCAAGTTGGACAGACGGGAAAAATAGTAGCACC
AGAACTTTATATTGCTGTTGGAATATCTGGAGCCATCCAACATTTAGCTGGGATGAAAGACAGCAAGACAATTGTGGCAATTAATAAAGACCCAGAAGCTCCAATTTTCCAAGTGGCAGATTATGGAA
TAGTTGCAGATTTATTTAAGGTAGTTCCTGAAATGACTGAGATATTGAAGAAAAAATGAATCAGGATCATGCCTTAAAAAGAAAACTTTTGTTAAAGTATTCCACTGAAATCACAGATATTTGTGGGT
ATTATAACAATCATTGGAAAGCATGGAGAGCTACATTTCATAATTTGAGGGAAAATTTCTAACAGATGCCAGAATGCTTGTTTATGGGATTGCTGTGTTTCCTTTTAATTATTTGTGGTTCCAAACAA
TTATTGTTTGAACTTTTTAAATTCTGTACTAAAATCTATAATAAAGCTTTTCCACAGCTTTAAAACTATCAGAAATATGCCTAGCCTCTAGAGAAAATTGAAGAAAAGGAGTAAAAATTTTGTTTATT
TATTTATTTTTTTGCCTTTCTTGTTCATGGAGAGCTCTATGTTTTAGGAAGATTGTAAACATGATTGTCTCCACCAGCCTAATCAACCTACTAATCTCATTGTTGAAGGGCAAACTTCATAGGAGAAG
GTAACTGAATTGGCAAGTGCAGAGTTAAAAAAGCACGGCTATAAAGCATGAATATTATCTTAAACATACTCCAGTCTTCAGAAGACCATAGCTAATGTGACAAAAGCAGACCTGACTTAAACCTGACC
CAGCTCCATGTATTTAGTTGGCTTAAGGTAAATTTCATTTTCCGTTTAATTTTAAGGTTTTGTCAGTTTATAGGACTTTTGTCTGTAAAGGAGGGAGAGTGGAGGAGGGGCTGCTTTGAGACAGCATG
GCCTCTGATGCAAGCAGATAGTTTGATGTTATTATAAACATTCAAAATCCTGTGCAGAGAATGCTCTAGCCTTTCTTTTGCCTTCTGTTGGCTTCTTTTGGGCTCTCTTAGGAAGCACCCAGGCCTGT
GTAGTCACCTCTGGCACTCTCATTCTGCTGCCCAGGGCACAGCTGAGGTCCAAGAGTGTCACCAGGGCTGCAGCTGGTGTGGATGCAGGCCCAAGAGCAGAGGCTGGTGAGGCTTTGAACAGGCCTGC
AGGAAGGCGTGGGTAGGTAGGTGAGTAGAACAAAGAGGGCTGCCCTCCTGAATCAGATCTGCAGAAGTAGGAGTAGTGACCTGGATCAAGCAGACAGTAGGGAAGAGAAGGGAAGTGATAAGTGATGG
AGGTGGCTAGAGTGCCTTTGTGTGACCAGCCTGGGGCCCTTCCCCAGCTGACTAGTGAACCCTTTCTGATTTGTGTCACAATCAGTTGCTATAAAACACTTTTAAAAGTTGTA

hide sequence

RefSeq Acc Id:

NM_001127716 ⟹ NP_001121188

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	76,215,353 - 76,311,469 (-)	NCBI
GRCh37	15	76,508,628 - 76,603,810 (-)	ENTREZGENE
HuRef	15	53,265,219 - 53,360,736 (-)	ENTREZGENE
CHM1_1	15	76,628,067 - 76,723,216 (-)	NCBI
T2T-CHM13v2.0	15	74,086,268 - 74,182,563 (-)	NCBI

Sequence:

show sequence

ATTAGGTGACTGGCTGAGGCGGCGCCAGTTGGCCGGGCACGGGGCTGCTGTAAGGCCGAGGTTGCGGCGGAAGCGGAGACCATGTTCCGAGCGGCGGCTCCGGGGCAGCTCCGGCGGGCGGTGGCACA
AGATCTCTGTAAAGTAGCAGGCATAGCAAAAGTTCTGGTGGCTCAGCATGATGTGTACAAAGGCCTACTTCCAGAGGAACTGACACCATTGATTTTGGCAACTCAGAAGCAGTTCAATTACACACACA
TCTGTGCTGGAGCATCTGCCTTCGGAAAGAACCTTTTGCCCAGAGTAGCAGCCAAACTTGAGGTTGCCCCGATTTCTGACATCATTGCAATCAAGTCACCTGACACATTTGTGAGAACTATTTATGCA
GGAAATGCTCTATGTACAGTGAAGTGTGATGAGAAAGTGAAAGTGTTTTCTGTCCGTGGAACATCCTTTGATGCTGCAGCAACAAGTGGCGGTAGTGCCAGTTCAGAAAAGGCATCAAGTACTTCACC
AGTGGAAATATCAGAGTGGCTTGACCAGAAATTAACAAAAAGTGATCGACCAGAGCTAACAGGTGCCAAAGTGGTGGTATCTGGTGGTCGAGGCTTGAAGAGTGGAGAGAACTTTAAGTTGTTATATG
ACTTGGCAGATCAACTACATGCTGCAGTTGGTGCTTCCCGTGCTGCTGTTGATGCTGGCTTTGTTCCCAATGACATGCAAGTTGGACAGACGGGAAAAATAGTAGCACCAGAACTTTATATTGCTGTT
GGAATATCTGGAGCCATCCAACATTTAGCTGGGATGAAAGACAGCAAGACAATTGTGGCAATTAATAAAGACCCAGAAGCTCCAATTTTCCAAGTGGCAGATTATGGAATAGTTGCAGATTTATTTAA
GGTAGTTCCTGAAATGACTGAGATATTGAAGAAAAAATGAATCAGGATCATGCCTTAAAAAGAAAACTTTTGTTAAAGTATTCCACTGAAATCACAGATATTTGTGGGTATTATAACAATCATTGGAA
AGCATGGAGAGCTACATTTCATAATTTGAGGGAAAATTTCTAACAGATGCCAGAATGCTTGTTTATGGGATTGCTGTGTTTCCTTTTAATTATTTGTGGTTCCAAACAATTATTGTTTGAACTTTTTA
AATTCTGTACTAAAATCTATAATAAAGCTTTTCCACAGCTTTAAAACTATCAGAAATATGCCTAGCCTCTAGAGAAAATTGAAGAAAAGGAGTAAAAATTTTGTTTATTTATTTATTTTTTTGCCTTT
CTTGTTCATGGAGAGCTCTATGTTTTAGGAAGATTGTAAACATGATTGTCTCCACCAGCCTAATCAACCTACTAATCTCATTGTTGAAGGGCAAACTTCATAGGAGAAGGTAACTGAATTGGCAAGTG
CAGAGTTAAAAAAGCACGGCTATAAAGCATGAATATTATCTTAAACATACTCCAGTCTTCAGAAGACCATAGCTAATGTGACAAAAGCAGACCTGACTTAAACCTGACCCAGCTCCATGTATTTAGTT
GGCTTAAGGTAAATTTCATTTTCCGTTTAATTTTAAGGTTTTGTCAGTTTATAGGACTTTTGTCTGTAAAGGAGGGAGAGTGGAGGAGGGGCTGCTTTGAGACAGCATGGCCTCTGATGCAAGCAGAT
AGTTTGATGTTATTATAAACATTCAAAATCCTGTGCAGAGAATGCTCTAGCCTTTCTTTTGCCTTCTGTTGGCTTCTTTTGGGCTCTCTTAGGAAGCACCCAGGCCTGTGTAGTCACCTCTGGCACTC
TCATTCTGCTGCCCAGGGCACAGCTGAGGTCCAAGAGTGTCACCAGGGCTGCAGCTGGTGTGGATGCAGGCCCAAGAGCAGAGGCTGGTGAGGCTTTGAACAGGCCTGCAGGAAGGCGTGGGTAGGTA
GGTGAGTAGAACAAAGAGGGCTGCCCTCCTGAATCAGATCTGCAGAAGTAGGAGTAGTGACCTGGATCAAGCAGACAGTAGGGAAGAGAAGGGAAGTGATAAGTGATGGAGGTGGCTAGAGTGCCTTT
GTGTGACCAGCCTGGGGCCCTTCCCCAGCTGACTAGTGAACCCTTTCTGATTTGTGTCACAATCAGTTGCTATAAAACACTTTTAAAAGTTGTA

hide sequence

RefSeq Acc Id:

XR_007064434

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	76,225,879 - 76,311,469 (-)	NCBI

RefSeq Acc Id:

XR_008488929

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	15	74,096,767 - 74,182,563 (-)	NCBI


Protein RefSeqs	NP_000117	(Get FASTA)	NCBI Sequence Viewer
	NP_001121188	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA52406	(Get FASTA)	NCBI Sequence Viewer
	AAH15526	(Get FASTA)	NCBI Sequence Viewer
	AAH95457	(Get FASTA)	NCBI Sequence Viewer
	AAN03712	(Get FASTA)	NCBI Sequence Viewer
	AAP88798	(Get FASTA)	NCBI Sequence Viewer
	ADO22311	(Get FASTA)	NCBI Sequence Viewer
	ALQ33504	(Get FASTA)	NCBI Sequence Viewer
	ALQ33505	(Get FASTA)	NCBI Sequence Viewer
	ALQ33506	(Get FASTA)	NCBI Sequence Viewer
	BAA05746	(Get FASTA)	NCBI Sequence Viewer
	BAF85668	(Get FASTA)	NCBI Sequence Viewer
	BAG61855	(Get FASTA)	NCBI Sequence Viewer
	CAA11802	(Get FASTA)	NCBI Sequence Viewer
	EAW99221	(Get FASTA)	NCBI Sequence Viewer
	EAW99222	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000399273
	ENSP00000399273.2
	ENSP00000452762
	ENSP00000452762.1
	ENSP00000510473.1
GenBank Protein	P13804	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001121188 ⟸ NM_001127716
- Peptide Label:	isoform b
- UniProtKB:	A0A8I5KT03 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFRAAAPGQLRRAVAQDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAA TSGGSASSEKASSTSPVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEA PIFQVADYGIVADLFKVVPEMTEILKKK hide sequence

RefSeq Acc Id:	NP_000117 ⟸ NM_000126
- Peptide Label:	isoform a
- UniProtKB:	B4DT43 (UniProtKB/Swiss-Prot), Q53XN3 (UniProtKB/Swiss-Prot), P13804 (UniProtKB/Swiss-Prot), A0A0S2Z3L0 (UniProtKB/TrEMBL), A0A8I5KYP7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFRAAAPGQLRRAASLLRFQSTLVIAEHANDSLAPITLNTITAATRLGGEVSCLVAGTKCDKVA QDLCKVAGIAKVLVAQHDVYKGLLPEELTPLILATQKQFNYTHICAGASAFGKNLLPRVAAKLEVAPISDIIAIKSPDTFVRTIYAGNALCTVKCDEKVKVFSVRGTSFDAAATSGGSASSEKASSTS PVEISEWLDQKLTKSDRPELTGAKVVVSGGRGLKSGENFKLLYDLADQLHAAVGASRAAVDAGFVPNDMQVGQTGKIVAPELYIAVGISGAIQHLAGMKDSKTIVAINKDPEAPIFQVADYGIVADLF KVVPEMTEILKKK hide sequence

Ensembl Acc Id:

ENSP00000267950 ⟸ ENST00000267950

Ensembl Acc Id:

ENSP00000452762 ⟸ ENST00000557943

Ensembl Acc Id:

ENSP00000452777 ⟸ ENST00000559386

Protein Domains

Electron transfer flavoprotein alpha subunit C- Electron transfer flavoprotein alpha/beta-subunit N-

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P13804-F1-model_v2	AlphaFold	P13804	1-333	view protein structure

RGD ID:

6792321

Promoter ID:

HG_KWN:21987

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:

ENST00000267950, NM_001127716, UC002BBU.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	15	74,390,619 - 74,391,119 (-)	MPROMDB

RGD ID:

6852440

Promoter ID:

EP74029

Type:

initiation region

Name:

HS_ETFA

Description:

Electron-transfer-flavoprotein, alpha polypeptide (glutaric II)uria II).

SO ACC ID:

SO:0000170

Source:

EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Mammalian gene collection (MGC) full-length cDNA cloning

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	15	74,390,802 - 74,390,862	EPD

RGD ID:

7230183

Promoter ID:

EPDNEW_H20837

Type:

initiation region

Name:

ETFA_1

Description:

electron transfer flavoprotein alpha subunit

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	15	76,311,469 - 76,311,529	EPDNEW

Database	Acc Id	Source(s)
COSMIC	ETFA	COSMIC
Ensembl Genes	ENSG00000140374	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000433983	ENTREZGENE
	ENST00000433983.6	UniProtKB/Swiss-Prot
	ENST00000557943	ENTREZGENE
	ENST00000557943.6	UniProtKB/Swiss-Prot
	ENST00000688637	ENTREZGENE
	ENST00000690610.1	UniProtKB/Swiss-Prot
Gene3D-CATH	3.40.50.620	UniProtKB/Swiss-Prot
	TPP-binding domain	UniProtKB/Swiss-Prot
GTEx	ENSG00000140374	GTEx
HGNC ID	HGNC:3481	ENTREZGENE
Human Proteome Map	ETFA	Human Proteome Map
InterPro	DHS-like_NAD/FAD-binding_dom	UniProtKB/Swiss-Prot
	ETF_a/b_N	UniProtKB/Swiss-Prot
	ETF_a/FixB	UniProtKB/Swiss-Prot
	ETF_alpha_N	UniProtKB/Swiss-Prot
	ETF_asu_C	UniProtKB/Swiss-Prot
	ETF_asu_C_CS	UniProtKB/Swiss-Prot
	Rossmann-like_a/b/a_fold	UniProtKB/Swiss-Prot
KEGG Report	hsa:2108	UniProtKB/Swiss-Prot
NCBI Gene	2108	ENTREZGENE
OMIM	608053	OMIM
PANTHER	ELECTRON TRANSFER FLAVOPROTEIN SUBUNIT ALPHA, MITOCHONDRIAL	UniProtKB/Swiss-Prot
	PTHR43153	UniProtKB/Swiss-Prot
Pfam	ETF	UniProtKB/Swiss-Prot
	ETF_alpha	UniProtKB/Swiss-Prot
PharmGKB	PA27897	PharmGKB
PIRSF	Electra_flavoP_a	UniProtKB/Swiss-Prot
PROSITE	ETF_ALPHA	UniProtKB/Swiss-Prot
SMART	ETF	UniProtKB/Swiss-Prot
Superfamily-SCOP	Adenine nucleotide alpha hydrolases-like	UniProtKB/Swiss-Prot
	SSF52467	UniProtKB/Swiss-Prot
UniProt	A0A0S2Z3L0	ENTREZGENE, UniProtKB/TrEMBL
	A0A0S2Z3M4_HUMAN	UniProtKB/TrEMBL
	A0A8I5KSA0_HUMAN	UniProtKB/TrEMBL
	A0A8I5KT03	ENTREZGENE, UniProtKB/TrEMBL
	A0A8I5KU27_HUMAN	UniProtKB/TrEMBL
	A0A8I5KUF3_HUMAN	UniProtKB/TrEMBL
	A0A8I5KUR2_HUMAN	UniProtKB/TrEMBL
	A0A8I5KVC9_HUMAN	UniProtKB/TrEMBL
	A0A8I5KVL5_HUMAN	UniProtKB/TrEMBL
	A0A8I5KYH4_HUMAN	UniProtKB/TrEMBL
	A0A8I5KYP7	ENTREZGENE, UniProtKB/TrEMBL
	B4DT43	ENTREZGENE
	ETFA_HUMAN	UniProtKB/Swiss-Prot
	H0YK49_HUMAN	UniProtKB/TrEMBL
	H0YKF0_HUMAN	UniProtKB/TrEMBL
	H0YL83_HUMAN	UniProtKB/TrEMBL
	H0YLU7_HUMAN	UniProtKB/TrEMBL
	H0YM12_HUMAN	UniProtKB/TrEMBL
	H0YMU8_HUMAN	UniProtKB/TrEMBL
	H3BV91_HUMAN	UniProtKB/TrEMBL
	J3KN60_HUMAN	UniProtKB/TrEMBL
	P13804	ENTREZGENE
	Q53XN3	ENTREZGENE
UniProt Secondary	B4DT43	UniProtKB/Swiss-Prot
	Q53XN3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2018-05-01	ETFA	electron transfer flavoprotein subunit alpha	ETFA	electron transfer flavoprotein alpha subunit	Symbol and/or name change	5135510	APPROVED
2016-01-12	ETFA	electron transfer flavoprotein alpha subunit	ETFA	electron-transfer-flavoprotein, alpha polypeptide	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar