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Gene: ETHE1 (ETHE1 persulfide dioxygenase) Homo sapiens

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Symbol:

ETHE1

Name:

ETHE1 persulfide dioxygenase

RGD ID:

1322274

HGNC Page

HGNC:23287

Description:

Enables identical protein binding activity; iron ion binding activity; and sulfur dioxygenase activity. Involved in glutathione metabolic process and hydrogen sulfide metabolic process. Located in mitochondrion and nucleoplasm. Implicated in ethylmalonic encephalopathy.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ETHE1, persulfide dioxygenase; ethylmalonic encephalopathy 1; ethylmalonic encephalopathy protein 1; hepatoma subtracted clone one protein; HSCO; persulfide dioxygenase ETHE1, mitochondrial; protein ETHE1, mitochondrial; sulfur dioxygenase ETHE1; YF13H12

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):	Ethe1 (ethylmalonic encephalopathy 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Ethe1 (ETHE1, persulfide dioxygenase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Ethe1 (ETHE1 persulfide dioxygenase)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ETHE1 (ETHE1 persulfide dioxygenase)	NCBI	Ortholog
Canis lupus familiaris (dog):	ETHE1 (ETHE1 persulfide dioxygenase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Ethe1 (ETHE1 persulfide dioxygenase)	NCBI	Ortholog
Sus scrofa (pig):	ETHE1 (ETHE1 persulfide dioxygenase)	HGNC	EggNOG, Ensembl, NCBI, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	ETHE1 (ETHE1 persulfide dioxygenase)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Ethe1 (ETHE1 persulfide dioxygenase)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Osbpl8 (oxysterol binding protein-like 8)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Ethe1 (ETHE1, persulfide dioxygenase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Ethe1 (ethylmalonic encephalopathy 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	ethe1 (ETHE1 persulfide dioxygenase)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	CG30022	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Caenorhabditis elegans (roundworm):	ethe-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	ethe1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	ethe1.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	ethe1.L	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	19	43,506,719 - 43,527,201 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	43,506,719 - 43,527,230 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	44,010,871 - 44,031,353 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	48,702,711 - 48,723,236 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	48,702,711 - 48,723,236	NCBI
Celera	19	40,811,624 - 40,834,029 (-)	NCBI		Celera
Cytogenetic Map	19	q13.31	NCBI
HuRef	19	40,440,766 - 40,462,063 (-)	NCBI		HuRef
CHM1_1	19	44,012,533 - 44,033,058 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	46,327,106 - 46,348,785 (-)	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)
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:28492532
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:25741868 and PMID:28492532
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:25741868
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:28492532
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:18593870 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:28492532
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:39825153
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:19289697 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:25741868 and PMID:32111695
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:25741868 and PMID:28933811
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 and PMID:28933811
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:28933811
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:17576681 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:18593870 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:27629047 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:21472225 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:28492532 and PMID:29625556
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:17353187 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:21472225 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:16183799 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:14732903 more ...
ETHE1	Human	genetic disease		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:28492532
ETHE1	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
ETHE1	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
ETHE1	Human	Nervous System Malformations		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Abnormality of the nervous system	ClinVar	PMID:16183799 more ...
ETHE1	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)
ETHE1	Human	ethylmalonic encephalopathy		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ETHE1	Human	ethylmalonic encephalopathy		ISS	Ethe1 (Mus musculus)	13592920	OMIM:602473	MouseDO

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ETHE1	Human	ethylmalonic encephalopathy		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)
ETHE1	Human	(1->4)-beta-D-glucan	multiple interactions	ISO	Ethe1 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of ETHE1 mRNA	CTD	PMID:36331819
ETHE1	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Ethe1 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of ETHE1 mRNA	CTD	PMID:22206623
ETHE1	Human	17beta-estradiol	affects expression	EXP		6480464	Estradiol affects the expression of ETHE1 mRNA	CTD	PMID:22574217
ETHE1	Human	17beta-estradiol	decreases expression	EXP		6480464	Estradiol results in decreased expression of ETHE1 mRNA	CTD	PMID:31614463
ETHE1	Human	17beta-estradiol	increases expression	ISO	Ethe1 (Mus musculus)	6480464	Estradiol results in increased expression of ETHE1 mRNA	CTD	PMID:39298647
ETHE1	Human	17beta-estradiol	affects expression	ISO	Ethe1 (Rattus norvegicus)	6480464	Estradiol affects the expression of ETHE1 mRNA	CTD	PMID:32145629
ETHE1	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Ethe1 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of ETHE1 mRNA	CTD	PMID:21570461
ETHE1	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of ETHE1 mRNA	CTD	PMID:33387578 and PMID:34747641
ETHE1	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of ETHE1 mRNA	CTD	PMID:21215274 and PMID:21724226
ETHE1	Human	2,4-dinitrotoluene	affects expression	ISO	Ethe1 (Rattus norvegicus)	6480464	2 and 4-dinitrotoluene affects the expression of ETHE1 mRNA	CTD	PMID:21346803
ETHE1	Human	2,6-dimethoxyphenol	multiple interactions	EXP		6480464	[pyrogallol 1 more ...	CTD	PMID:38598786
ETHE1	Human	2-palmitoylglycerol	increases expression	EXP		6480464	2-palmitoylglycerol results in increased expression of ETHE1 mRNA	CTD	PMID:37199045
ETHE1	Human	3,3',5-triiodo-L-thyronine	increases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	Triiodothyronine results in increased expression of ETHE1 mRNA	CTD	PMID:28299817
ETHE1	Human	3-chloropropane-1,2-diol	increases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	alpha-Chlorohydrin results in increased expression of ETHE1 mRNA	CTD	PMID:28522335
ETHE1	Human	4,4'-sulfonyldiphenol	multiple interactions	ISO	Ethe1 (Mus musculus)	6480464	[bisphenol S co-treated with Tretinoin] results in decreased expression of ETHE1 mRNA	CTD	PMID:30951980
ETHE1	Human	4,4'-sulfonyldiphenol	increases expression	ISO	Ethe1 (Mus musculus)	6480464	bisphenol S results in increased expression of ETHE1 mRNA	CTD	PMID:39298647
ETHE1	Human	4,4'-sulfonyldiphenol	increases methylation	ISO	Ethe1 (Mus musculus)	6480464	bisphenol S results in increased methylation of ETHE1 exon	CTD	PMID:33297965
ETHE1	Human	4-hydroxyphenyl retinamide	increases expression	ISO	Ethe1 (Mus musculus)	6480464	Fenretinide results in increased expression of ETHE1 mRNA	CTD	PMID:28973697
ETHE1	Human	acrylamide	increases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	Acrylamide results in increased expression of ETHE1 mRNA	CTD	PMID:28959563
ETHE1	Human	actinomycin D	multiple interactions	EXP		6480464	[Dactinomycin co-treated with nutlin 3] results in increased secretion of ETHE1 protein	CTD	PMID:38460933
ETHE1	Human	aldrin	increases expression	ISO	Ethe1 (Mus musculus)	6480464	Aldrin results in increased expression of ETHE1 mRNA	CTD	PMID:18579281
ETHE1	Human	all-trans-retinoic acid	multiple interactions	ISO	Ethe1 (Mus musculus)	6480464	[bisphenol S co-treated with Tretinoin] results in decreased expression of ETHE1 mRNA	CTD	PMID:30951980
ETHE1	Human	all-trans-retinoic acid	decreases expression	EXP		6480464	Tretinoin results in decreased expression of ETHE1 mRNA	CTD	PMID:33167477
ETHE1	Human	amphetamine	increases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	Amphetamine results in increased expression of ETHE1 mRNA	CTD	PMID:30779732
ETHE1	Human	antirheumatic drug	decreases expression	EXP		6480464	Antirheumatic Agents results in decreased expression of ETHE1 mRNA	CTD	PMID:24449571
ETHE1	Human	arsane	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in decreased expression of ETHE1 mRNA and [sodium arsenite results in increased abundance of Arsenic] which results in decreased expression of ETHE1 mRNA	CTD	PMID:39836092
ETHE1	Human	arsenic atom	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in decreased expression of ETHE1 mRNA and [sodium arsenite results in increased abundance of Arsenic] which results in decreased expression of ETHE1 mRNA	CTD	PMID:39836092
ETHE1	Human	arsenous acid	decreases expression	EXP		6480464	Arsenic Trioxide results in decreased expression of ETHE1 mRNA	CTD	PMID:27829220
ETHE1	Human	arsenous acid	decreases response to substance	EXP		6480464	ETHE1 protein results in decreased susceptibility to Arsenic Trioxide	CTD	PMID:20707922
ETHE1	Human	atrazine	decreases expression	EXP		6480464	Atrazine results in decreased expression of ETHE1 mRNA	CTD	PMID:22378314
ETHE1	Human	benzo[a]pyrene	decreases expression	EXP		6480464	Benzo(a)pyrene results in decreased expression of ETHE1 protein	CTD	PMID:32717239
ETHE1	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of ETHE1 3' UTR and Benzo(a)pyrene results in increased methylation of ETHE1 promoter	CTD	PMID:27901495
ETHE1	Human	benzo[b]fluoranthene	decreases expression	ISO	Ethe1 (Mus musculus)	6480464	benzo(b)fluoranthene results in decreased expression of ETHE1 mRNA	CTD	PMID:26377693
ETHE1	Human	beta-lapachone	increases expression	EXP		6480464	beta-lapachone results in increased expression of ETHE1 mRNA	CTD	PMID:38218311
ETHE1	Human	bisphenol A	decreases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of ETHE1 mRNA	CTD	PMID:25181051 more ...
ETHE1	Human	bisphenol A	decreases expression	ISO	Ethe1 (Mus musculus)	6480464	bisphenol A results in decreased expression of ETHE1 mRNA	CTD	PMID:35598803
ETHE1	Human	bisphenol A	increases expression	ISO	Ethe1 (Mus musculus)	6480464	bisphenol A results in increased expression of ETHE1 mRNA	CTD	PMID:32156529 and PMID:33221593
ETHE1	Human	bisphenol A	affects expression	ISO	Ethe1 (Rattus norvegicus)	6480464	bisphenol A affects the expression of ETHE1 mRNA	CTD	PMID:32145629
ETHE1	Human	Bisphenol B	increases expression	EXP		6480464	bisphenol B results in increased expression of ETHE1 protein	CTD	PMID:34186270
ETHE1	Human	butanal	increases expression	EXP		6480464	butyraldehyde results in increased expression of ETHE1 mRNA	CTD	PMID:26079696
ETHE1	Human	cadmium dichloride	affects expression	ISO	Ethe1 (Rattus norvegicus)	6480464	Cadmium Chloride affects the expression of ETHE1 mRNA	CTD	PMID:22110744
ETHE1	Human	cadmium dichloride	decreases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	Cadmium Chloride results in decreased expression of ETHE1 mRNA	CTD	PMID:25993096
ETHE1	Human	carbon nanotube	decreases expression	ISO	Ethe1 (Mus musculus)	6480464	Nanotubes more ...	CTD	PMID:25620056
ETHE1	Human	carbon nanotube	increases expression	ISO	Ethe1 (Mus musculus)	6480464	Nanotubes and Carbon analog results in increased expression of ETHE1 mRNA	CTD	PMID:25554681
ETHE1	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to ETHE1 gene]	CTD	PMID:28238834
ETHE1	Human	chlordecone	increases expression	ISO	Ethe1 (Mus musculus)	6480464	Chlordecone results in increased expression of ETHE1 mRNA	CTD	PMID:33711761
ETHE1	Human	chlorpyrifos	decreases expression	ISO	Ethe1 (Mus musculus)	6480464	Chlorpyrifos results in decreased expression of ETHE1 mRNA	CTD	PMID:37019170
ETHE1	Human	chromium(6+)	affects expression	ISO	Ethe1 (Mus musculus)	6480464	chromium hexavalent ion affects the expression of ETHE1 mRNA	CTD	PMID:28472532
ETHE1	Human	cisplatin	multiple interactions	EXP		6480464	[Cisplatin co-treated with jinfukang] results in increased expression of ETHE1 mRNA	CTD	PMID:27392435
ETHE1	Human	cisplatin	increases expression	EXP		6480464	Cisplatin results in increased expression of ETHE1 mRNA	CTD	PMID:27392435
ETHE1	Human	clofibrate	multiple interactions	ISO	Ethe1 (Mus musculus)	6480464	[Clofibrate co-treated with Acetaminophen] affects the expression of ETHE1 mRNA and PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of ETHE1 mRNA]	CTD	PMID:17585979
ETHE1	Human	clofibric acid	affects expression	ISO	Ethe1 (Rattus norvegicus)	6480464	Clofibric Acid affects the expression of ETHE1 mRNA	CTD	PMID:17602206
ETHE1	Human	copper(II) sulfate	increases expression	ISO	Ethe1 (Mus musculus)	6480464	Copper Sulfate results in increased expression of ETHE1 mRNA	CTD	PMID:18579281
ETHE1	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of ETHE1 mRNA	CTD	PMID:20106945
ETHE1	Human	diarsenic trioxide	decreases expression	EXP		6480464	Arsenic Trioxide results in decreased expression of ETHE1 mRNA	CTD	PMID:27829220
ETHE1	Human	diarsenic trioxide	decreases response to substance	EXP		6480464	ETHE1 protein results in decreased susceptibility to Arsenic Trioxide	CTD	PMID:20707922
ETHE1	Human	dibenz[a,h]anthracene	decreases expression	ISO	Ethe1 (Mus musculus)	6480464	1 more ...	CTD	PMID:26377693
ETHE1	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of ETHE1 mRNA	CTD	PMID:37042841
ETHE1	Human	diquat	increases expression	ISO	Ethe1 (Mus musculus)	6480464	Diquat results in increased expression of ETHE1 mRNA	CTD	PMID:36851058
ETHE1	Human	diuron	increases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	Diuron results in increased expression of ETHE1 mRNA	CTD	PMID:21551480
ETHE1	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ETHE1 mRNA	CTD	PMID:27188386
ETHE1	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of ETHE1 mRNA	CTD	PMID:29803840
ETHE1	Human	epoxiconazole	increases expression	ISO	Ethe1 (Mus musculus)	6480464	epoxiconazole results in increased expression of ETHE1 mRNA	CTD	PMID:35436446
ETHE1	Human	ethyl methanesulfonate	increases expression	EXP		6480464	Ethyl Methanesulfonate results in increased expression of ETHE1 mRNA	CTD	PMID:23649840
ETHE1	Human	fipronil	increases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	fipronil results in increased expression of ETHE1 mRNA	CTD	PMID:23962444
ETHE1	Human	folic acid	multiple interactions	ISO	Ethe1 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of ETHE1 mRNA	CTD	PMID:22206623
ETHE1	Human	furfural	multiple interactions	EXP		6480464	[pyrogallol 1 more ...	CTD	PMID:38598786
ETHE1	Human	gentamycin	increases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	Gentamicins results in increased expression of ETHE1 mRNA	CTD	PMID:33387578
ETHE1	Human	glafenine	decreases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	Glafenine results in decreased expression of ETHE1 mRNA	CTD	PMID:24136188
ETHE1	Human	glyphosate	decreases expression	ISO	Ethe1 (Mus musculus)	6480464	Glyphosate results in decreased expression of ETHE1 protein	CTD	PMID:36173347
ETHE1	Human	hydrogen peroxide	affects expression	EXP		6480464	Hydrogen Peroxide affects the expression of ETHE1 mRNA	CTD	PMID:20044591
ETHE1	Human	inulin	multiple interactions	ISO	Ethe1 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Inulin] results in increased expression of ETHE1 mRNA	CTD	PMID:36331819
ETHE1	Human	iodide salt	increases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	Iodides deficiency results in increased expression of ETHE1 protein	CTD	PMID:26795019
ETHE1	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of ETHE1 protein	CTD	PMID:32959892
ETHE1	Human	leflunomide	decreases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	leflunomide results in decreased expression of ETHE1 mRNA	CTD	PMID:24136188
ETHE1	Human	manganese atom	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in decreased expression of ETHE1 mRNA	CTD	PMID:39836092
ETHE1	Human	manganese(0)	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in decreased expression of ETHE1 mRNA	CTD	PMID:39836092
ETHE1	Human	manganese(II) chloride	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in decreased expression of ETHE1 mRNA	CTD	PMID:39836092
ETHE1	Human	methotrexate	affects expression	ISO	Ethe1 (Mus musculus)	6480464	Methotrexate affects the expression of ETHE1 mRNA	CTD	PMID:18502557
ETHE1	Human	N-nitrosodiethylamine	multiple interactions	ISO	Ethe1 (Rattus norvegicus)	6480464	[Diethylnitrosamine co-treated with Thioacetamide] results in decreased expression of ETHE1 mRNA	CTD	PMID:28943392
ETHE1	Human	nefazodone	decreases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	nefazodone results in decreased expression of ETHE1 mRNA	CTD	PMID:24136188
ETHE1	Human	nickel atom	increases expression	EXP		6480464	Nickel results in increased expression of ETHE1 mRNA	CTD	PMID:25583101
ETHE1	Human	niclosamide	increases expression	EXP		6480464	Niclosamide results in increased expression of ETHE1 mRNA	CTD	PMID:36318118
ETHE1	Human	nitrates	multiple interactions	ISO	Ethe1 (Mus musculus)	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of ETHE1 mRNA	CTD	PMID:35964746
ETHE1	Human	Nutlin-3	multiple interactions	EXP		6480464	[Dactinomycin co-treated with nutlin 3] results in increased secretion of ETHE1 protein	CTD	PMID:38460933
ETHE1	Human	p-toluidine	decreases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	4-toluidine results in decreased expression of ETHE1 mRNA	CTD	PMID:27638505
ETHE1	Human	paracetamol	multiple interactions	ISO	Ethe1 (Mus musculus)	6480464	[Clofibrate co-treated with Acetaminophen] affects the expression of ETHE1 mRNA and PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of ETHE1 mRNA]	CTD	PMID:17585979
ETHE1	Human	paracetamol	increases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of ETHE1 mRNA	CTD	PMID:33387578
ETHE1	Human	paracetamol	affects expression	EXP		6480464	Acetaminophen affects the expression of ETHE1 mRNA	CTD	PMID:25704631
ETHE1	Human	paracetamol	affects expression	ISO	Ethe1 (Mus musculus)	6480464	Acetaminophen affects the expression of ETHE1 mRNA	CTD	PMID:17562736
ETHE1	Human	perfluorododecanoic acid	decreases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	perfluorododecanoic acid results in decreased expression of ETHE1 protein	CTD	PMID:26168851
ETHE1	Human	perfluorooctane-1-sulfonic acid	multiple interactions	ISO	Ethe1 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of ETHE1 mRNA and [perfluorooctane sulfonic acid co-treated with Inulin] results in increased expression of ETHE1 mRNA	CTD	PMID:36331819
ETHE1	Human	perfluorooctanoic acid	increases expression	EXP		6480464	perfluorooctanoic acid results in increased expression of ETHE1 protein	CTD	PMID:26879310
ETHE1	Human	pirinixic acid	multiple interactions	EXP		6480464	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of ETHE1 mRNA	CTD	PMID:19710929
ETHE1	Human	pirinixic acid	increases expression	ISO	Ethe1 (Mus musculus)	6480464	pirinixic acid results in increased expression of ETHE1 mRNA	CTD	PMID:17426115
ETHE1	Human	pirinixic acid	decreases expression	ISO	Ethe1 (Mus musculus)	6480464	pirinixic acid results in decreased expression of ETHE1 mRNA	CTD	PMID:15302862 and PMID:18445702
ETHE1	Human	potassium chromate	decreases expression	EXP		6480464	potassium chromate(VI) results in decreased expression of ETHE1 mRNA	CTD	PMID:22714537
ETHE1	Human	resveratrol	increases expression	ISO	Ethe1 (Mus musculus)	6480464	resveratrol results in increased expression of ETHE1 protein	CTD	PMID:25505154
ETHE1	Human	rotenone	decreases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	Rotenone results in decreased expression of ETHE1 mRNA	CTD	PMID:28374803
ETHE1	Human	SB 431542	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ETHE1 mRNA	CTD	PMID:27188386
ETHE1	Human	senecionine	decreases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	senecionine results in decreased expression of ETHE1 mRNA	CTD	PMID:32419051
ETHE1	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of ETHE1 mRNA	CTD	PMID:38568856
ETHE1	Human	sodium arsenite	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in decreased expression of ETHE1 mRNA and [sodium arsenite results in increased abundance of Arsenic] which results in decreased expression of ETHE1 mRNA	CTD	PMID:39836092
ETHE1	Human	sodium chloride	multiple interactions	EXP		6480464	[Sodium Chloride co-treated with Furaldehyde] results in increased expression of and affects the localization of ETHE1 protein more ...	CTD	PMID:38598786
ETHE1	Human	sodium dichromate	decreases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	sodium bichromate results in decreased expression of ETHE1 mRNA	CTD	PMID:25993096
ETHE1	Human	sodium fluoride	decreases expression	ISO	Ethe1 (Mus musculus)	6480464	Sodium Fluoride results in decreased expression of ETHE1 protein	CTD	PMID:28918527
ETHE1	Human	tetrachloroethene	decreases expression	ISO	Ethe1 (Mus musculus)	6480464	Tetrachloroethylene results in decreased expression of ETHE1 mRNA	CTD	PMID:28973375
ETHE1	Human	tetrachloromethane	decreases expression	ISO	Ethe1 (Mus musculus)	6480464	Carbon Tetrachloride results in decreased expression of ETHE1 mRNA	CTD	PMID:27339419 and PMID:31919559
ETHE1	Human	thapsigargin	decreases expression	ISO	Ethe1 (Mus musculus)	6480464	Thapsigargin results in decreased expression of ETHE1 protein	CTD	PMID:24648495
ETHE1	Human	thioacetamide	decreases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	Thioacetamide results in decreased expression of ETHE1 mRNA	CTD	PMID:23411599 and PMID:34492290
ETHE1	Human	thioacetamide	multiple interactions	ISO	Ethe1 (Rattus norvegicus)	6480464	[Diethylnitrosamine co-treated with Thioacetamide] results in decreased expression of ETHE1 mRNA	CTD	PMID:28943392
ETHE1	Human	titanium dioxide	increases methylation	ISO	Ethe1 (Mus musculus)	6480464	titanium dioxide results in increased methylation of ETHE1 promoter	CTD	PMID:35295148
ETHE1	Human	trichloroethene	increases methylation	ISO	Ethe1 (Rattus norvegicus)	6480464	Trichloroethylene results in increased methylation of ETHE1 gene	CTD	PMID:27618143
ETHE1	Human	trichloroethene	increases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	Trichloroethylene results in increased expression of ETHE1 mRNA	CTD	PMID:33387578
ETHE1	Human	tris(2-butoxyethyl) phosphate	affects expression	EXP		6480464	tris(2-butoxyethyl) phosphate affects the expression of ETHE1 mRNA	CTD	PMID:29024780
ETHE1	Human	troglitazone	decreases expression	ISO	Ethe1 (Mus musculus)	6480464	troglitazone results in decreased expression of ETHE1 protein	CTD	PMID:18495193
ETHE1	Human	valdecoxib	decreases expression	ISO	Ethe1 (Rattus norvegicus)	6480464	valdecoxib results in decreased expression of ETHE1 mRNA	CTD	PMID:24136188
ETHE1	Human	valproic acid	affects expression	ISO	Ethe1 (Mus musculus)	6480464	Valproic Acid affects the expression of ETHE1 mRNA	CTD	PMID:17292431
ETHE1	Human	valproic acid	increases expression	ISO	Ethe1 (Mus musculus)	6480464	Valproic Acid results in increased expression of ETHE1 mRNA	CTD	PMID:21427059
ETHE1	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of ETHE1 mRNA	CTD	PMID:25979313
ETHE1	Human	valproic acid	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of ETHE1 mRNA	CTD	PMID:27188386
ETHE1	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of ETHE1 mRNA	CTD	PMID:23179753 more ...

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)
ETHE1	Human	glutathione metabolic process	involved_in	IDA		150520179	PMID:23144459	UniProt	PMID:23144459
ETHE1	Human	glutathione metabolic process	involved_in	IBA	PANTHER:PTN002454072 and UniProtKB:O95571	150520179		GO_Central	GO_REF:0000033
ETHE1	Human	glutathione metabolic process	involved_in	IEA	InterPro:IPR044528	150520179		InterPro	GO_REF:0000002
ETHE1	Human	hydrogen sulfide metabolic process	involved_in	IDA		150520179	PMID:23144459	UniProt	PMID:23144459
ETHE1	Human	hydrogen sulfide metabolic process	involved_in	IBA	PANTHER:PTN002454072 and UniProtKB:O95571	150520179		GO_Central	GO_REF:0000033

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)
ETHE1	Human	cytoplasm	located_in	IDA		150520179		LIFEdb	GO_REF:0000054
ETHE1	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
ETHE1	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
ETHE1	Human	mitochondrial matrix	located_in	IEA	UniProtKB-SubCell:SL-0170	150520179		UniProt	GO_REF:0000044
ETHE1	Human	mitochondrial matrix	located_in	TAS		150520179		Reactome	Reactome:R-HSA-1614605
ETHE1	Human	mitochondrion	located_in	HTP		150520179	PMID:34800366	FlyBase	PMID:34800366
ETHE1	Human	mitochondrion	is_active_in	IBA	PANTHER:PTN000940093 more ...	150520179		GO_Central	GO_REF:0000033
ETHE1	Human	mitochondrion	located_in	IEA	UniProtKB-KW:KW-0496	150520179		UniProt	GO_REF:0000043
ETHE1	Human	mitochondrion	located_in	IDA		150520179		HPA	GO_REF:0000052
ETHE1	Human	nucleoplasm	located_in	IDA		150520179		HPA	GO_REF:0000052
ETHE1	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
ETHE1	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044

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)
ETHE1	Human	dioxygenase activity	enables	IEA	UniProtKB-KW:KW-0223	150520179		UniProt	GO_REF:0000043
ETHE1	Human	identical protein binding	enables	IPI	UniProtKB:O95571	150520179	PMID:32296183	IntAct	PMID:32296183
ETHE1	Human	iron ion binding	enables	IDA		150520179	PMID:23144459	UniProt	PMID:23144459
ETHE1	Human	metal ion binding	enables	IEA	UniProtKB-KW:KW-0479	150520179		UniProt	GO_REF:0000043
ETHE1	Human	oxidoreductase activity	enables	IEA	UniProtKB-KW:KW-0560	150520179		UniProt	GO_REF:0000043
ETHE1	Human	protein binding	enables	IPI	UniProtKB:Q3LHN2 more ...	150520179	PMID:32296183	IntAct	PMID:32296183
ETHE1	Human	sulfur dioxygenase activity	enables	IEA	InterPro:IPR044528	150520179		InterPro	GO_REF:0000002
ETHE1	Human	sulfur dioxygenase activity	enables	IBA	PANTHER:PTN002454072 more ...	150520179		GO_Central	GO_REF:0000033
ETHE1	Human	sulfur dioxygenase activity	enables	IEA	EC:1.13.11.18	150520179		UniProt	GO_REF:0000003
ETHE1	Human	sulfur dioxygenase activity	enables	IDA		150520179	PMID:23144459	UniProt	PMID:23144459
ETHE1	Human	sulfur dioxygenase activity	enables	IEA	RHEA:12981	150520179		RHEA	GO_REF:0000116

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ETHE1	Human	Abnormal basal ganglia MRI signal intensity		IAGP		8699517		HPO	ORPHA:51188
ETHE1	Human	Abnormal brainstem MRI signal intensity		IAGP		8699517		HPO	ORPHA:51188
ETHE1	Human	Abnormal pyramidal sign		IAGP		8699517		HPO	ORPHA:51188
ETHE1	Human	Abnormal retinal vascular morphology		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Abnormality of extrapyramidal motor function		IAGP		8699517		HPO	ORPHA:51188
ETHE1	Human	Abnormality of extrapyramidal motor function		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Acrocyanosis		IAGP		8699517		HPO	ORPHA:51188
ETHE1	Human	Acrocyanosis		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Ataxia		IAGP		8699517		HPO	ORPHA:51188
ETHE1	Human	Ataxia		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Babinski sign		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Chronic diarrhea		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Cytochrome C oxidase-negative muscle fibers		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Death in infancy		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Developmental regression		IAGP		8699517		HPO	ORPHA:51188
ETHE1	Human	Developmental regression		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Diarrhea		IAGP		8699517		HPO	ORPHA:51188
ETHE1	Human	Elevated circulating butyrylcarnitine concentration		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Elevated circulating thiosulfate concentration		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Encephalopathy		IAGP		8699517		HPO	ORPHA:51188
ETHE1	Human	Encephalopathy		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Ethylmalonic aciduria		IAGP		8699517		HPO	ORPHA:51188
ETHE1	Human	Ethylmalonic aciduria		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Failure to thrive		IAGP		8699517		HPO	ORPHA:51188
ETHE1	Human	Failure to thrive		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Feeding difficulties		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Focal T2 hyperintense basal ganglia lesion		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Generalized hypotonia		IAGP		8699517		HPO	ORPHA:51188
ETHE1	Human	Global developmental delay		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Hypotonia		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Infantile onset		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Intellectual disability		IAGP		8699517		HPO	ORPHA:51188
ETHE1	Human	Intellectual disability		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Lactic acidosis		IAGP		8699517		HPO	ORPHA:51188
ETHE1	Human	Lactic acidosis		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Neurodevelopmental delay		IAGP		8699517		HPO	ORPHA:51188
ETHE1	Human	Petechiae		IAGP		8699517		HPO	MIM:602473
ETHE1	Human	Petechiae		IAGP		8699517		HPO	ORPHA:51188
ETHE1	Human	Retinal vascular tortuosity		IAGP		8699517		HPO	ORPHA:51188
ETHE1	Human	Seizure		IAGP		8699517		HPO	ORPHA:51188
ETHE1	Human	Seizure		IAGP		8699517		HPO	MIM:602473

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ETHE1	Human	Abnormality of the nervous system		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Abnormality of the nervous system	ClinVar	PMID:16183799 more ...
ETHE1	Human	Schizophrenia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106 and PMID:30208311

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
5.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

PMID:11076863	PMID:11256614	PMID:12398897	PMID:12477932	PMID:14732903	PMID:15057824	PMID:15342556	PMID:15489334	PMID:15489336	PMID:16169070	PMID:16183799	PMID:16381901
PMID:16929096	PMID:17353187	PMID:18029348	PMID:18187620	PMID:18593870	PMID:19136963	PMID:20877624	PMID:20978941	PMID:21832049	PMID:21873635	PMID:23144459	PMID:23874603
PMID:24344204	PMID:25198162	PMID:26186194	PMID:26344197	PMID:26760575	PMID:26871637	PMID:27074420	PMID:27742479	PMID:28514442	PMID:28933811	PMID:29791485	PMID:30391543
PMID:31108370	PMID:31477743	PMID:31536960	PMID:32296183	PMID:33274826	PMID:33639274	PMID:33961781	PMID:34800366	PMID:35032548	PMID:35575683	PMID:35944360	PMID:36215168
PMID:36225252	PMID:36604567	PMID:37223481	PMID:37528093

ETHE1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	43,506,719 - 43,527,201 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	43,506,719 - 43,527,230 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	44,010,871 - 44,031,353 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	48,702,711 - 48,723,236 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	48,702,711 - 48,723,236	NCBI
Celera	19	40,811,624 - 40,834,029 (-)	NCBI		Celera
Cytogenetic Map	19	q13.31	NCBI
HuRef	19	40,440,766 - 40,462,063 (-)	NCBI		HuRef
CHM1_1	19	44,012,533 - 44,033,058 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	46,327,106 - 46,348,785 (-)	NCBI		T2T-CHM13v2.0

Ethe1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	24,286,968 - 24,308,350 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	24,286,968 - 24,308,350 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	24,587,543 - 24,608,925 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	24,587,543 - 24,608,925 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	25,372,562 - 25,393,944 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	24,296,303 - 24,317,685 (+)	NCBI		MGSCv36	mm8
Celera	7	19,201,450 - 19,222,832 (+)	NCBI		Celera
Cytogenetic Map	7	A3	NCBI
cM Map	7	11.66	NCBI

Ethe1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	89,311,948 - 89,327,000 (+)	NCBI		GRCr8
mRatBN7.2	1	80,184,037 - 80,199,092 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	80,183,894 - 80,199,052 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	85,576,393 - 85,591,434 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	94,127,481 - 94,142,531 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	87,332,138 - 87,347,179 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	81,457,008 - 81,472,061 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	81,456,984 - 81,472,097 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	82,716,410 - 82,731,463 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	79,875,629 - 79,890,681 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	79,953,739 - 79,968,786 (+)	NCBI
Celera	1	74,636,910 - 74,651,962 (+)	NCBI		Celera
Cytogenetic Map	1	q21	NCBI

Ethe1
(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_004955555	1,262,802 - 1,279,714 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955555	1,262,860 - 1,279,714 (-)	NCBI	ChiLan1.0	ChiLan1.0

ETHE1
(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	20	49,664,616 - 49,686,290 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	51,533,548 - 51,555,217 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	40,447,367 - 40,469,037 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3

ETHE1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	111,583,690 - 111,607,420 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	111,471,522 - 111,607,386 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	111,063,414 - 111,087,138 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	112,193,836 - 112,217,585 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	112,081,868 - 112,217,551 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	111,782,087 - 111,805,730 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	111,415,757 - 111,439,468 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	112,300,036 - 112,323,637 (+)	NCBI		UU_Cfam_GSD_1.0

Ethe1
(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_024409349	16,378,763 - 16,403,464 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936706	726,089 - 746,760 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936706	726,106 - 750,733 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ETHE1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	50,375,841 - 50,396,237 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	50,375,836 - 50,395,769 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	46,148,306 - 46,150,857 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ETHE1
(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	6	37,024,015 - 37,045,628 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	37,024,014 - 37,045,737 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666073	16,563,865 - 16,584,962 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ethe1
(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_004624907	1,057,768 - 1,073,003 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624907	1,057,768 - 1,080,936 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in ETHE1
400 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_014297.5(ETHE1):c.427G>A (p.Val143Ile)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000551325]	Chr19:43511515 [GRCh38] Chr19:44015667 [GRCh37] Chr19:19q13.31	uncertain significance
ETHE1, 1-BP INS, 604G	insertion	Ethylmalonic encephalopathy [RCV000002409]	Chr19:19q13.32	pathogenic
ETHE1, 1-BP INS, 221A	insertion	Ethylmalonic encephalopathy [RCV000002410]	Chr19:19q13.32	pathogenic
ETHE1, 11-BP DEL, NT440	deletion	Ethylmalonic encephalopathy [RCV000002411]	Chr19:19q13.32	pathogenic
ETHE1, IVS4DS, G-T, +1	single nucleotide variant	Ethylmalonic encephalopathy [RCV000002412]	Chr19:19q13.32	pathogenic
ETHE1, EX4DEL	deletion	Ethylmalonic encephalopathy [RCV000002413]	Chr19:19q13.32	pathogenic
NM_014297.5(ETHE1):c.487C>T (p.Arg163Trp)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000002407]\|not provided [RCV004721241]	Chr19:43511455 [GRCh38] Chr19:44015607 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.3G>T (p.Met1Ile)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000002408]\|not provided [RCV000197782]	Chr19:43527175 [GRCh38] Chr19:44031327 [GRCh37] Chr19:19q13.31	pathogenic\|likely pathogenic
NM_014297.5(ETHE1):c.554T>G (p.Leu185Arg)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000023703]	Chr19:43508816 [GRCh38] Chr19:44012968 [GRCh37] Chr19:19q13.31	pathogenic
GRCh38/hg38 19q13.31(chr19:43303334-43576458)x3	copy number gain	See cases [RCV000054150]	Chr19:43303334..43576458 [GRCh38] Chr19:43807486..44080610 [GRCh37] Chr19:48499326..48772450 [NCBI36] Chr19:19q13.31	uncertain significance
GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3	copy number gain	See cases [RCV000054151]	Chr19:43338231..43853163 [GRCh38] Chr19:43842383..44357315 [GRCh37] Chr19:48534223..49049155 [NCBI36] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.608C>T (p.Ser203Phe)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003074995]	Chr19:43508048 [GRCh38] Chr19:44012200 [GRCh37] Chr19:48704040 [NCBI36] Chr19:19q13.31	likely pathogenic\|not provided
NM_014297.5(ETHE1):c.227-9C>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV001082970]\|not provided [RCV000676452]\|not specified [RCV000124922]	Chr19:43526358 [GRCh38] Chr19:44030510 [GRCh37] Chr19:19q13.31	benign\|likely benign
NM_014297.5(ETHE1):c.-47C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV000390869]\|not specified [RCV000124923]	Chr19:43527224 [GRCh38] Chr19:44031376 [GRCh37] Chr19:19q13.31	benign\|uncertain significance
NM_014297.5(ETHE1):c.-45G>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV000339697]\|not provided [RCV003415931]\|not specified [RCV000124924]	Chr19:43527222 [GRCh38] Chr19:44031374 [GRCh37] Chr19:19q13.31	benign\|uncertain significance
NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000288835]\|not provided [RCV000224357]\|not specified [RCV000124925]	Chr19:43527117 [GRCh38] Chr19:44031269 [GRCh37] Chr19:19q13.31	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_014297.5(ETHE1):c.506-6C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV001494598]	Chr19:43508870 [GRCh38] Chr19:44013022 [GRCh37] Chr19:19q13.31	likely benign
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	copy number gain	See cases [RCV000133888]	Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31	pathogenic
GRCh38/hg38 19q13.31(chr19:43338231-43570437)x3	copy number gain	See cases [RCV000135231]	Chr19:43338231..43570437 [GRCh38] Chr19:43842383..44074589 [GRCh37] Chr19:48534223..48766429 [NCBI36] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.281T>C (p.Leu94Pro)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001135785]	Chr19:43526295 [GRCh38] Chr19:44030447 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr)	single nucleotide variant	ETHE1-related disorder [RCV004757161]\|Ethylmalonic encephalopathy [RCV000383149]\|Inborn genetic diseases [RCV002517209]\|not provided [RCV000767331]\|not specified [RCV000196829]	Chr19:43526557 [GRCh38] Chr19:44030709 [GRCh37] Chr19:19q13.31	pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_014297.5(ETHE1):c.596-2A>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV001377167]	Chr19:43508062 [GRCh38] Chr19:44012214 [GRCh37] Chr19:19q13.31	pathogenic\|likely pathogenic
NM_014297.5(ETHE1):c.602_603del (p.Thr201fs)	microsatellite	Ethylmalonic encephalopathy [RCV003462307]\|not provided [RCV000197919]	Chr19:43508053..43508054 [GRCh38] Chr19:44012205..44012206 [GRCh37] Chr19:19q13.31	likely pathogenic\|uncertain significance
NM_014297.5(ETHE1):c.221dup (p.Tyr74Ter)	duplication	Ethylmalonic encephalopathy [RCV001272531]\|not provided [RCV000198962]	Chr19:43526519..43526520 [GRCh38] Chr19:44030671..44030672 [GRCh37] Chr19:19q13.31	pathogenic\|likely pathogenic
NM_014297.5(ETHE1):c.340A>T (p.Ile114Phe)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001248482]\|Inborn genetic diseases [RCV002515394]\|not specified [RCV000199378]	Chr19:43526236 [GRCh38] Chr19:44030388 [GRCh37] Chr19:19q13.31	likely benign\|uncertain significance
NM_014297.5(ETHE1):c.488G>A (p.Arg163Gln)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000276936]	Chr19:43511454 [GRCh38] Chr19:44015606 [GRCh37] Chr19:19q13.31	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity
NM_014297.5(ETHE1):c.476G>A (p.Arg159His)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000814742]\|not provided [RCV000199428]	Chr19:43511466 [GRCh38] Chr19:44015618 [GRCh37] Chr19:19q13.31	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_014297.5(ETHE1):c.278C>T (p.Ser93Phe)	single nucleotide variant	ETHE1-related disorder [RCV003927839]\|Ethylmalonic encephalopathy [RCV000273437]\|not provided [RCV000196062]	Chr19:43526298 [GRCh38] Chr19:44030450 [GRCh37] Chr19:19q13.31	likely pathogenic\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	copy number loss	See cases [RCV000240182]	Chr19:43013365..47241534 [GRCh37] Chr19:19q13.2-13.32	pathogenic
NM_014297.5(ETHE1):c.586G>A (p.Asp196Asn)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000578436]\|not provided [RCV002307552]	Chr19:43508784 [GRCh38] Chr19:44012936 [GRCh37] Chr19:19q13.31	pathogenic\|likely pathogenic
NM_014297.5(ETHE1):c.6G>A (p.Ala2=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000379794]\|not provided [RCV000676454]\|not specified [RCV000251048]	Chr19:43527172 [GRCh38] Chr19:44031324 [GRCh37] Chr19:19q13.31	benign
NM_014297.5(ETHE1):c.*31A>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV000300270]	Chr19:43506819 [GRCh38] Chr19:44010971 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.4(ETHE1):c.-52G>C	single nucleotide variant	Ethylmalonic encephalopathy [RCV000281053]	Chr19:43527229 [GRCh38] Chr19:44031381 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.9G>A (p.Glu3=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000325164]	Chr19:43527169 [GRCh38] Chr19:44031321 [GRCh37] Chr19:19q13.31	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_014297.5(ETHE1):c.197A>G (p.Lys66Arg)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000328569]\|Inborn genetic diseases [RCV004975460]	Chr19:43526544 [GRCh38] Chr19:44030696 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.4(ETHE1):c.-41G>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV000287050]\|not provided [RCV001539526]	Chr19:43527218 [GRCh38] Chr19:44031370 [GRCh37] Chr19:19q13.31	benign
NM_014297.5(ETHE1):c.371G>T (p.Arg124Leu)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000332023]\|not provided [RCV000676451]	Chr19:43526205 [GRCh38] Chr19:44030357 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.*55G>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV000263835]\|not provided [RCV004717257]	Chr19:43506795 [GRCh38] Chr19:44010947 [GRCh37] Chr19:19q13.31	benign\|uncertain significance
NM_014297.5(ETHE1):c.-62C>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV000298680]\|not provided [RCV001683322]	Chr19:43527239 [GRCh38] Chr19:44031391 [GRCh37] Chr19:19q13.31	benign\|likely benign
NM_014297.5(ETHE1):c.317G>C (p.Ser106Thr)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000386460]\|Inborn genetic diseases [RCV004619262]	Chr19:43526259 [GRCh38] Chr19:44030411 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.4(ETHE1):c.-53C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV000338487]	Chr19:43527230 [GRCh38] Chr19:44031382 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.4(ETHE1):c.-58G>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV000390680]	Chr19:43527235 [GRCh38] Chr19:44031387 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.376-5G>C	single nucleotide variant	Ethylmalonic encephalopathy [RCV000355087]	Chr19:43511571 [GRCh38] Chr19:44015723 [GRCh37] Chr19:19q13.31	conflicting interpretations of pathogenicity\|uncertain significance
NM_014297.5(ETHE1):c.455C>T (p.Thr152Ile)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000598703]	Chr19:43511487 [GRCh38] Chr19:44015639 [GRCh37] Chr19:19q13.31	pathogenic\|not provided
NM_014297.5(ETHE1):c.592dup (p.His198fs)	duplication	Ethylmalonic encephalopathy [RCV000598849]	Chr19:43508777..43508778 [GRCh38] Chr19:44012929..44012930 [GRCh37] Chr19:19q13.31	pathogenic\|likely pathogenic
NM_014297.5(ETHE1):c.187C>T (p.Gln63Ter)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000598580]	Chr19:43526554 [GRCh38] Chr19:44030706 [GRCh37] Chr19:19q13.31	pathogenic\|likely pathogenic
NM_014297.5(ETHE1):c.113A>G (p.Tyr38Cys)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000598620]	Chr19:43526628 [GRCh38] Chr19:44030780 [GRCh37] Chr19:19q13.31	pathogenic\|not provided
NM_014297.5(ETHE1):c.406A>G (p.Thr136Ala)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000587866]	Chr19:43511536 [GRCh38] Chr19:44015688 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.505+1G>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV000598891]	Chr19:43511436 [GRCh38] Chr19:44015588 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.131_132del (p.Glu44fs)	microsatellite	Ethylmalonic encephalopathy [RCV000598926]	Chr19:43526609..43526610 [GRCh38] Chr19:44030761..44030762 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.34C>T (p.Gln12Ter)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000598827]	Chr19:43527144 [GRCh38] Chr19:44031296 [GRCh37] Chr19:19q13.31	pathogenic\|not provided
NM_014297.5(ETHE1):c.222_223insA (p.Ala75fs)	insertion	Ethylmalonic encephalopathy [RCV000599084]	Chr19:43526518..43526519 [GRCh38] Chr19:44030670..44030671 [GRCh37] Chr19:19q13.31	pathogenic\|not provided
NM_014297.3(ETHE1):c.-83_-79delCGCCC	microsatellite	Ethylmalonic encephalopathy [RCV000599165]	Chr19:43527256..43527260 [GRCh38] Chr19:44031408..44031412 [GRCh37] Chr19:19q13.31	pathogenic\|not provided
NM_014297.5(ETHE1):c.164T>C (p.Leu55Pro)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000599221]	Chr19:43526577 [GRCh38] Chr19:44030729 [GRCh37] Chr19:19q13.31	pathogenic\|not provided
NM_014297.5(ETHE1):c.112T>G (p.Tyr38Asp)	single nucleotide variant	not provided [RCV000586503]	Chr19:43526629 [GRCh38] Chr19:44030781 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.604dup (p.Val202fs)	duplication	Ethylmalonic encephalopathy [RCV000599349]	Chr19:43508051..43508052 [GRCh38] Chr19:44012203..44012204 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.487C>G (p.Arg163Gly)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000599431]	Chr19:43511455 [GRCh38] Chr19:44015607 [GRCh37] Chr19:19q13.31	pathogenic\|not provided
NM_014297.5(ETHE1):c.440_450del (p.His147fs)	deletion	Ethylmalonic encephalopathy [RCV000599476]	Chr19:43511492..43511502 [GRCh38] Chr19:44015644..44015654 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.66del (p.Ile23fs)	deletion	Ethylmalonic encephalopathy [RCV000599262]	Chr19:43527112 [GRCh38] Chr19:44031264 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.230del (p.Asn77fs)	deletion	Ethylmalonic encephalopathy [RCV000599380]	Chr19:43526346 [GRCh38] Chr19:44030498 [GRCh37] Chr19:19q13.31	pathogenic\|not provided
NM_014297.5(ETHE1):c.491C>A (p.Thr164Lys)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000599532]	Chr19:43511451 [GRCh38] Chr19:44015603 [GRCh37] Chr19:19q13.31	pathogenic\|not provided
NC_000019.9:g.(?_44015589)_(44015719_?)del	deletion	Ethylmalonic encephalopathy [RCV000415425]	Chr19:44015589..44015719 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.-24A>C	single nucleotide variant	not specified [RCV000438365]	Chr19:43527201 [GRCh38] Chr19:44031353 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.-20C>T	single nucleotide variant	not specified [RCV000424745]	Chr19:43527197 [GRCh38] Chr19:44031349 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.379T>C (p.Leu127=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001471530]\|not specified [RCV000435980]	Chr19:43511563 [GRCh38] Chr19:44015715 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.375+19C>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV002525387]\|not specified [RCV000429758]	Chr19:43526182 [GRCh38] Chr19:44030334 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.378G>A (p.Ala126=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000873398]\|not specified [RCV000433688]	Chr19:43511564 [GRCh38] Chr19:44015716 [GRCh37] Chr19:19q13.31	benign
NM_014297.5(ETHE1):c.482G>A (p.Cys161Tyr)	single nucleotide variant	Abnormality of the nervous system [RCV001814171]\|Ethylmalonic encephalopathy [RCV000503577]	Chr19:43511460 [GRCh38] Chr19:44015612 [GRCh37] Chr19:19q13.31	likely pathogenic\|conflicting interpretations of pathogenicity\|not provided
NM_014297.5(ETHE1):c.494A>G (p.Asp165Gly)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000501489]\|not provided [RCV000523639]	Chr19:43511448 [GRCh38] Chr19:44015600 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.149T>A (p.Leu50Gln)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000823269]\|not provided [RCV000498211]	Chr19:43526592 [GRCh38] Chr19:44030744 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.375+5G>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV000578329]	Chr19:43526196 [GRCh38] Chr19:44030348 [GRCh37] Chr19:19q13.31	pathogenic\|likely pathogenic
NM_014297.5(ETHE1):c.505+1G>C	single nucleotide variant	Ethylmalonic encephalopathy [RCV000495931]	Chr19:43511436 [GRCh38] Chr19:44015588 [GRCh37] Chr19:19q13.31	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
NM_014297.5(ETHE1):c.226+1G>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV000644795]	Chr19:43526514 [GRCh38] Chr19:44030666 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.505+1G>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV000589263]	Chr19:43511436 [GRCh38] Chr19:44015588 [GRCh37] Chr19:19q13.31	pathogenic\|likely pathogenic
NM_014297.5(ETHE1):c.453C>T (p.Phe151=)	single nucleotide variant	not specified [RCV000608922]	Chr19:43511489 [GRCh38] Chr19:44015641 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.573C>T (p.Ile191=)	single nucleotide variant	ETHE1-related disorder [RCV003928030]\|Ethylmalonic encephalopathy [RCV000940936]\|not specified [RCV000611735]	Chr19:43508797 [GRCh38] Chr19:44012949 [GRCh37] Chr19:19q13.31	benign\|likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_014297.5(ETHE1):c.115C>G (p.Leu39Val)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001128795]\|Inborn genetic diseases [RCV004026144]\|not provided [RCV000676453]	Chr19:43526626 [GRCh38] Chr19:44030778 [GRCh37] Chr19:19q13.31	uncertain significance
GRCh37/hg19 19q13.31(chr19:43846269-44055858)x4	copy number gain	not provided [RCV000684072]	Chr19:43846269..44055858 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.595+2T>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV000700806]	Chr19:43508773 [GRCh38] Chr19:44012925 [GRCh37] Chr19:19q13.31	pathogenic\|likely pathogenic
NM_014297.5(ETHE1):c.712+6C>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV000704904]	Chr19:43507938 [GRCh38] Chr19:44012090 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.417T>G (p.Cys139Trp)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000735823]	Chr19:43511525 [GRCh38] Chr19:44015677 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.79C>A (p.Gln27Lys)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000755051]\|not provided [RCV001557377]	Chr19:43527099 [GRCh38] Chr19:44031251 [GRCh37] Chr19:19q13.31	pathogenic\|likely pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
Single allele	duplication	Schizophrenia [RCV000754211]	Chr19:41608672..44315856 [GRCh38] Chr19:19q13.2-13.31	likely pathogenic
NM_014297.5(ETHE1):c.81+26G>T	single nucleotide variant	not provided [RCV001571321]	Chr19:43527071 [GRCh38] Chr19:44031223 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.596-305_596-304dup	duplication	not provided [RCV001708857]	Chr19:43508346..43508347 [GRCh38] Chr19:44012498..44012499 [GRCh37] Chr19:19q13.31	benign
NM_014297.5(ETHE1):c.742G>A (p.Gly248Arg)	single nucleotide variant	not provided [RCV000762029]	Chr19:43506873 [GRCh38] Chr19:44011025 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.712+199G>A	single nucleotide variant	not provided [RCV001669416]	Chr19:43507745 [GRCh38] Chr19:44011897 [GRCh37] Chr19:19q13.31	benign
NM_014297.5(ETHE1):c.596-305_596-301dup	duplication	not provided [RCV001641240]	Chr19:43508346..43508347 [GRCh38] Chr19:44012498..44012499 [GRCh37] Chr19:19q13.31	benign
NC_000019.10:g.(?_43506840)_(43527187_?)del	deletion	Ethylmalonic encephalopathy [RCV001032963]	Chr19:44010992..44031339 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.375+257G>C	single nucleotide variant	not provided [RCV001547750]	Chr19:43525944 [GRCh38] Chr19:44030096 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.505+183C>T	single nucleotide variant	not provided [RCV001583585]	Chr19:43511254 [GRCh38] Chr19:44015406 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.462T>C (p.Asp154=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000975329]	Chr19:43511480 [GRCh38] Chr19:44015632 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.489G>A (p.Arg163=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000944155]\|not provided [RCV003884817]	Chr19:43511453 [GRCh38] Chr19:44015605 [GRCh37] Chr19:19q13.31	likely benign\|conflicting interpretations of pathogenicity
NM_014297.5(ETHE1):c.2T>C (p.Met1Thr)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000779260]	Chr19:43527176 [GRCh38] Chr19:44031328 [GRCh37] Chr19:19q13.31	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_014297.5(ETHE1):c.378G>T (p.Ala126=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000872877]	Chr19:43511564 [GRCh38] Chr19:44015716 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.48C>G (p.Arg16=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001460519]	Chr19:43527130 [GRCh38] Chr19:44031282 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.684C>T (p.Asn228=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000961087]\|not provided [RCV001531472]	Chr19:43507972 [GRCh38] Chr19:44012124 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.660G>A (p.Glu220=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001468529]	Chr19:43507996 [GRCh38] Chr19:44012148 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.295C>T (p.Gln99Ter)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000792939]	Chr19:43526281 [GRCh38] Chr19:44030433 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.712+88G>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV001796792]\|not provided [RCV000832752]	Chr19:43507856 [GRCh38] Chr19:44012008 [GRCh37] Chr19:19q13.31	benign\|likely benign
NM_014297.5(ETHE1):c.761C>T (p.Ala254Val)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000815727]	Chr19:43506854 [GRCh38] Chr19:44011006 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.725C>T (p.Pro242Leu)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001134309]	Chr19:43506890 [GRCh38] Chr19:44011042 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.505+264T>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV001759633]\|not provided [RCV000830339]	Chr19:43511173 [GRCh38] Chr19:44015325 [GRCh37] Chr19:19q13.31	benign
NM_014297.5(ETHE1):c.712+181A>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV001526403]\|not provided [RCV000830845]	Chr19:43507763 [GRCh38] Chr19:44011915 [GRCh37] Chr19:19q13.31	benign
NC_000019.10:g.(?_43506840)_(43511576_?)del	deletion	Ethylmalonic encephalopathy [RCV000800671]	Chr19:43506840..43511576 [GRCh38] Chr19:44010992..44015728 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.82-187G>A	single nucleotide variant	not provided [RCV000844039]	Chr19:43526846 [GRCh38] Chr19:44030998 [GRCh37] Chr19:19q13.31	benign
NM_014297.5(ETHE1):c.506-244C>T	single nucleotide variant	not provided [RCV000844041]	Chr19:43509108 [GRCh38] Chr19:44013260 [GRCh37] Chr19:19q13.31	benign
NM_014297.5(ETHE1):c.150G>C (p.Leu50=)	single nucleotide variant	ETHE1-related disorder [RCV003908319]\|Ethylmalonic encephalopathy [RCV000875416]\|not provided [RCV001615073]	Chr19:43526591 [GRCh38] Chr19:44030743 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.596-6C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003497915]\|not provided [RCV000996939]	Chr19:43508066 [GRCh38] Chr19:44012218 [GRCh37] Chr19:19q13.31	likely benign\|uncertain significance
GRCh37/hg19 19q13.31(chr19:43803157-44105375)x3	copy number gain	not provided [RCV000845850]	Chr19:43803157..44105375 [GRCh37] Chr19:19q13.31	uncertain significance
GRCh37/hg19 19q13.31(chr19:43818072-44100076)x3	copy number gain	not provided [RCV000848508]	Chr19:43818072..44100076 [GRCh37] Chr19:19q13.31	uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	copy number gain	not provided [RCV000845733]	Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33	pathogenic
NM_014297.5(ETHE1):c.505+4A>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV001232640]	Chr19:43511433 [GRCh38] Chr19:44015585 [GRCh37] Chr19:19q13.31	uncertain significance
GRCh37/hg19 19q13.31(chr19:44004424-44080746)x3	copy number gain	not provided [RCV000847663]	Chr19:44004424..44080746 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.505+5C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV001135784]	Chr19:43511432 [GRCh38] Chr19:44015584 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.*92A>C	single nucleotide variant	Ethylmalonic encephalopathy [RCV001134307]	Chr19:43506758 [GRCh38] Chr19:44010910 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.737G>A (p.Arg246His)	single nucleotide variant	Inborn genetic diseases [RCV003274730]	Chr19:43506878 [GRCh38] Chr19:44011030 [GRCh37] Chr19:19q13.31	uncertain significance
NC_000019.10:g.43527391del	deletion	not provided [RCV001658748]	Chr19:43527389 [GRCh38] Chr19:44031541 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.81+121G>A	single nucleotide variant	not provided [RCV001555529]	Chr19:43526976 [GRCh38] Chr19:44031128 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.712+91C>T	single nucleotide variant	not provided [RCV001645768]	Chr19:43507853 [GRCh38] Chr19:44012005 [GRCh37] Chr19:19q13.31	benign
NM_014297.5(ETHE1):c.596-305_596-302dup	duplication	not provided [RCV001616572]	Chr19:43508346..43508347 [GRCh38] Chr19:44012498..44012499 [GRCh37] Chr19:19q13.31	benign
NM_014297.5(ETHE1):c.505+296G>A	single nucleotide variant	not provided [RCV001557925]	Chr19:43511141 [GRCh38] Chr19:44015293 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.505+302C>T	single nucleotide variant	not provided [RCV001541869]	Chr19:43511135 [GRCh38] Chr19:44015287 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.747G>A (p.Val249=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001441349]	Chr19:43506868 [GRCh38] Chr19:44011020 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.375+7T>C	single nucleotide variant	Ethylmalonic encephalopathy [RCV000899474]	Chr19:43526194 [GRCh38] Chr19:44030346 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.174G>T (p.Ala58=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000961088]\|not provided [RCV001531473]	Chr19:43526567 [GRCh38] Chr19:44030719 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.426C>T (p.Phe142=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000931499]	Chr19:43511516 [GRCh38] Chr19:44015668 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.708G>T (p.Gln236His)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001243304]	Chr19:43507948 [GRCh38] Chr19:44012100 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.587A>T (p.Asp196Val)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001245036]	Chr19:43508783 [GRCh38] Chr19:44012935 [GRCh37] Chr19:19q13.31	conflicting interpretations of pathogenicity\|uncertain significance
NM_014297.5(ETHE1):c.10_13dup (p.Val5fs)	duplication	Ethylmalonic encephalopathy [RCV001205475]	Chr19:43527164..43527165 [GRCh38] Chr19:44031316..44031317 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.132G>T (p.Glu44Asp)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001128794]	Chr19:43526609 [GRCh38] Chr19:44030761 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.*48G>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV001134308]	Chr19:43506802 [GRCh38] Chr19:44010954 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.585C>T (p.His195=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV000911295]\|not provided [RCV001712826]	Chr19:43508785 [GRCh38] Chr19:44012937 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.596-305dup	duplication	not provided [RCV001720960]	Chr19:43508346..43508347 [GRCh38] Chr19:44012498..44012499 [GRCh37] Chr19:19q13.31	benign
NM_014297.5(ETHE1):c.595+142del	deletion	not provided [RCV001578074]	Chr19:43508633 [GRCh38] Chr19:44012785 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.227T>C (p.Val76Ala)	single nucleotide variant	not provided [RCV002251615]	Chr19:43526349 [GRCh38] Chr19:44030501 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.375+50A>C	single nucleotide variant	not provided [RCV001555109]	Chr19:43526151 [GRCh38] Chr19:44030303 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.506-286G>C	single nucleotide variant	not provided [RCV001568786]	Chr19:43509150 [GRCh38] Chr19:44013302 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.236A>T (p.His79Leu)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002472032]	Chr19:43526340 [GRCh38] Chr19:44030492 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.712+154A>G	single nucleotide variant	not provided [RCV001530685]	Chr19:43507790 [GRCh38] Chr19:44011942 [GRCh37] Chr19:19q13.31	benign
NM_014297.5(ETHE1):c.475C>T (p.Arg159Cys)	single nucleotide variant	Ethylmalonic encephalopathy [RCV004770193]\|not provided [RCV001723334]	Chr19:43511467 [GRCh38] Chr19:44015619 [GRCh37] Chr19:19q13.31	likely pathogenic\|uncertain significance
NC_000019.10:g.(?_43511427)_(43511576_?)del	deletion	Ethylmalonic encephalopathy [RCV001031485]	Chr19:44015579..44015728 [GRCh37] Chr19:19q13.31	pathogenic
NC_000019.10:g.43527402GA[1]	microsatellite	not provided [RCV001669639]	Chr19:43527401..43527402 [GRCh38] Chr19:44031553..44031554 [GRCh37] Chr19:19q13.31	benign
GRCh37/hg19 19q13.31(chr19:44015589-44015719)	copy number loss	Ethylmalonic encephalopathy [RCV001195142]	Chr19:44015589..44015719 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.757A>G (p.Thr253Ala)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001232557]	Chr19:43506858 [GRCh38] Chr19:44011010 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.535C>T (p.His179Tyr)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001134310]	Chr19:43508835 [GRCh38] Chr19:44012987 [GRCh37] Chr19:19q13.31	conflicting interpretations of pathogenicity\|uncertain significance
NM_014297.5(ETHE1):c.79C>T (p.Gln27Ter)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001202525]	Chr19:43527099 [GRCh38] Chr19:44031251 [GRCh37] Chr19:19q13.31	pathogenic\|likely pathogenic
NM_014297.5(ETHE1):c.138G>A (p.Arg46=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001128793]	Chr19:43526603 [GRCh38] Chr19:44030755 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.46C>T (p.Arg16Cys)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001350768]\|Inborn genetic diseases [RCV004036637]	Chr19:43527132 [GRCh38] Chr19:44031284 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.456T>G (p.Thr152=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001392803]	Chr19:43511486 [GRCh38] Chr19:44015638 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.486G>A (p.Gly162=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001414698]	Chr19:43511456 [GRCh38] Chr19:44015608 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.87C>G (p.Phe29Leu)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001316050]	Chr19:43526654 [GRCh38] Chr19:44030806 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.712+7A>C	single nucleotide variant	Ethylmalonic encephalopathy [RCV001392041]	Chr19:43507937 [GRCh38] Chr19:44012089 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.420C>G (p.Val140=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001391953]	Chr19:43511522 [GRCh38] Chr19:44015674 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.49G>A (p.Gly17Ser)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001297382]	Chr19:43527129 [GRCh38] Chr19:44031281 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.11C>G (p.Ala4Gly)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001279349]	Chr19:43527167 [GRCh38] Chr19:44031319 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.369G>A (p.Gly123=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001394699]	Chr19:43526207 [GRCh38] Chr19:44030359 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.299C>T (p.Ser100Phe)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001340540]	Chr19:43526277 [GRCh38] Chr19:44030429 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.317G>A (p.Ser106Asn)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001297512]	Chr19:43526259 [GRCh38] Chr19:44030411 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.190C>T (p.Leu64=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001495888]	Chr19:43526551 [GRCh38] Chr19:44030703 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.273C>G (p.Leu91=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001434242]	Chr19:43526303 [GRCh38] Chr19:44030455 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.483T>C (p.Cys161=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001489535]	Chr19:43511459 [GRCh38] Chr19:44015611 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.471G>A (p.Leu157=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001488048]	Chr19:43511471 [GRCh38] Chr19:44015623 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.648C>T (p.Thr216=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001468987]	Chr19:43508008 [GRCh38] Chr19:44012160 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.387C>G (p.Thr129=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001474776]	Chr19:43511555 [GRCh38] Chr19:44015707 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.54G>A (p.Gly18=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001474821]	Chr19:43527124 [GRCh38] Chr19:44031276 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.376-5G>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV001457152]	Chr19:43511571 [GRCh38] Chr19:44015723 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.612C>G (p.Thr204=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001445981]	Chr19:43508044 [GRCh38] Chr19:44012196 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.174G>A (p.Ala58=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001409383]	Chr19:43526567 [GRCh38] Chr19:44030719 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.214C>T (p.Leu72=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001443775]	Chr19:43526527 [GRCh38] Chr19:44030679 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.18G>A (p.Leu6=)	single nucleotide variant	ETHE1-related disorder [RCV003946076]\|Ethylmalonic encephalopathy [RCV001409492]	Chr19:43527160 [GRCh38] Chr19:44031312 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.480G>A (p.Gly160=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001444015]	Chr19:43511462 [GRCh38] Chr19:44015614 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.111G>A (p.Thr37=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001409692]	Chr19:43526630 [GRCh38] Chr19:44030782 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.330T>C (p.Ala110=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001405006]	Chr19:43526246 [GRCh38] Chr19:44030398 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.81+7G>C	single nucleotide variant	Ethylmalonic encephalopathy [RCV001432931]	Chr19:43527090 [GRCh38] Chr19:44031242 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.162C>T (p.Val54=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001416004]	Chr19:43526579 [GRCh38] Chr19:44030731 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.595+47T>C	single nucleotide variant	Ethylmalonic encephalopathy [RCV001542970]\|not provided [RCV001676038]	Chr19:43508728 [GRCh38] Chr19:44012880 [GRCh37] Chr19:19q13.31	benign
NM_014297.5(ETHE1):c.597G>A (p.Gly199=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001425413]	Chr19:43508059 [GRCh38] Chr19:44012211 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.642G>A (p.Arg214=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001431664]	Chr19:43508014 [GRCh38] Chr19:44012166 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.378G>C (p.Ala126=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001442906]	Chr19:43511564 [GRCh38] Chr19:44015716 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.528C>T (p.His176=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001393843]	Chr19:43508842 [GRCh38] Chr19:44012994 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.506-10C>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV001445594]	Chr19:43508874 [GRCh38] Chr19:44013026 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.432G>T (p.Leu144=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001409353]	Chr19:43511510 [GRCh38] Chr19:44015662 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.375+141T>C	single nucleotide variant	not provided [RCV001615636]	Chr19:43526060 [GRCh38] Chr19:44030212 [GRCh37] Chr19:19q13.31	benign
NM_014297.5(ETHE1):c.372C>T (p.Arg124=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001453637]	Chr19:43526204 [GRCh38] Chr19:44030356 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.712+144_712+180del	deletion	not provided [RCV001654548]	Chr19:43507764..43507800 [GRCh38] Chr19:44011916..44011952 [GRCh37] Chr19:19q13.31	benign
NM_014297.5(ETHE1):c.420C>T (p.Val140=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001478369]	Chr19:43511522 [GRCh38] Chr19:44015674 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.228G>A (p.Val76=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001466971]	Chr19:43526348 [GRCh38] Chr19:44030500 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.549C>T (p.Phe183=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001460260]	Chr19:43508821 [GRCh38] Chr19:44012973 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.596-7C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV001504722]	Chr19:43508067 [GRCh38] Chr19:44012219 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.264G>A (p.Ser88=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001428919]	Chr19:43526312 [GRCh38] Chr19:44030464 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.537T>C (p.His179=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001475856]	Chr19:43508833 [GRCh38] Chr19:44012985 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.558A>G (p.Pro186=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001477940]	Chr19:43508812 [GRCh38] Chr19:44012964 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.366C>T (p.Phe122=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001499442]	Chr19:43526210 [GRCh38] Chr19:44030362 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.43C>T (p.Gln15Ter)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001385547]	Chr19:43527135 [GRCh38] Chr19:44031287 [GRCh37] Chr19:19q13.31	pathogenic\|likely pathogenic
NM_014297.5(ETHE1):c.324C>T (p.Ala108=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001398242]	Chr19:43526252 [GRCh38] Chr19:44030404 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.162C>A (p.Val54=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001440979]	Chr19:43526579 [GRCh38] Chr19:44030731 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.226+10G>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV001432626]	Chr19:43526505 [GRCh38] Chr19:44030657 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.505+9C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV001434797]	Chr19:43511428 [GRCh38] Chr19:44015580 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.227-8T>C	single nucleotide variant	Ethylmalonic encephalopathy [RCV001402231]	Chr19:43526357 [GRCh38] Chr19:44030509 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.333C>T (p.Asp111=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001488897]	Chr19:43526243 [GRCh38] Chr19:44030395 [GRCh37] Chr19:19q13.31	likely benign
NC_000019.9:g.(?_44011044)_44014899del	deletion	Ethylmalonic encephalopathy [RCV001377668]		likely pathogenic
NM_014297.5(ETHE1):c.357C>T (p.Ser119=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001462406]\|not provided [RCV004770156]	Chr19:43526219 [GRCh38] Chr19:44030371 [GRCh37] Chr19:19q13.31	likely benign\|uncertain significance
NM_014297.5(ETHE1):c.205_210dup (p.Gly69_Leu70dup)	duplication	Ethylmalonic encephalopathy [RCV001733656]	Chr19:43526530..43526531 [GRCh38] Chr19:44030682..44030683 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.605T>G (p.Val202Gly)	single nucleotide variant	not provided [RCV001794770]	Chr19:43508051 [GRCh38] Chr19:44012203 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.226+6T>C	single nucleotide variant	Ethylmalonic encephalopathy [RCV002021884]	Chr19:43526509 [GRCh38] Chr19:44030661 [GRCh37] Chr19:19q13.31	uncertain significance
GRCh37/hg19 19q13.2-13.31(chr19:43082847-44100076)	copy number gain	not specified [RCV002052685]	Chr19:43082847..44100076 [GRCh37] Chr19:19q13.2-13.31	uncertain significance
NM_014297.5(ETHE1):c.622G>T (p.Glu208Ter)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001874236]	Chr19:43508034 [GRCh38] Chr19:44012186 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.337C>T (p.His113Tyr)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001983678]	Chr19:43526239 [GRCh38] Chr19:44030391 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.254_258dup (p.Gly87fs)	duplication	Ethylmalonic encephalopathy [RCV002007524]	Chr19:43526317..43526318 [GRCh38] Chr19:44030469..44030470 [GRCh37] Chr19:19q13.31	pathogenic
NC_000019.9:g.(?_44012086)_(44013026_?)del	deletion	Ethylmalonic encephalopathy [RCV002024326]	Chr19:44012086..44013026 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.640C>A (p.Arg214=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001945460]	Chr19:43508016 [GRCh38] Chr19:44012168 [GRCh37] Chr19:19q13.31	likely benign\|uncertain significance
NM_014297.5(ETHE1):c.457G>C (p.Gly153Arg)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001962011]	Chr19:43511485 [GRCh38] Chr19:44015637 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.247G>A (p.Asp83Asn)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002039094]	Chr19:43526329 [GRCh38] Chr19:44030481 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.734T>G (p.Met245Arg)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001941475]	Chr19:43506881 [GRCh38] Chr19:44011033 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.386C>A (p.Thr129Asn)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001977586]	Chr19:43511556 [GRCh38] Chr19:44015708 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.596-2A>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV002000629]	Chr19:43508062 [GRCh38] Chr19:44012214 [GRCh37] Chr19:19q13.31	likely pathogenic
NC_000019.9:g.(?_44015579)_(44031339_?)del	deletion	Ethylmalonic encephalopathy [RCV001972374]	Chr19:44015579..44031339 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.189del (p.Gln63fs)	deletion	Ethylmalonic encephalopathy [RCV001963246]	Chr19:43526552 [GRCh38] Chr19:44030704 [GRCh37] Chr19:19q13.31	pathogenic
NC_000019.10:g.43527257G>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV001992125]	Chr19:43527257 [GRCh38] Chr19:44031409 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.236A>G (p.His79Arg)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001934429]	Chr19:43526340 [GRCh38] Chr19:44030492 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.178C>T (p.Arg60Trp)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001990182]	Chr19:43526563 [GRCh38] Chr19:44030715 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.645_655del (p.Leu215_Thr216insTer)	deletion	Ethylmalonic encephalopathy [RCV001923044]	Chr19:43508001..43508011 [GRCh38] Chr19:44012153..44012163 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.413del (p.Gly138fs)	deletion	Ethylmalonic encephalopathy [RCV001883579]	Chr19:43511529 [GRCh38] Chr19:44015681 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.506-2A>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV001989465]	Chr19:43508866 [GRCh38] Chr19:44013018 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.449C>A (p.Ala150Asp)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002014002]	Chr19:43511493 [GRCh38] Chr19:44015645 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.325C>T (p.Gln109Ter)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001920091]	Chr19:43526251 [GRCh38] Chr19:44030403 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.596-8G>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV001951227]	Chr19:43508068 [GRCh38] Chr19:44012220 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.356C>T (p.Ser119Phe)	single nucleotide variant	Ethylmalonic encephalopathy [RCV001902952]	Chr19:43526220 [GRCh38] Chr19:44030372 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.423C>G (p.Thr141=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002087333]	Chr19:43511519 [GRCh38] Chr19:44015671 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.402C>T (p.Gly134=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002185936]	Chr19:43511540 [GRCh38] Chr19:44015692 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.264G>C (p.Ser88=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002108946]	Chr19:43526312 [GRCh38] Chr19:44030464 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.376-6del	deletion	Ethylmalonic encephalopathy [RCV002165121]	Chr19:43511572 [GRCh38] Chr19:44015724 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.192G>A (p.Leu64=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002189396]	Chr19:43526549 [GRCh38] Chr19:44030701 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.759T>C (p.Thr253=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002148235]	Chr19:43506856 [GRCh38] Chr19:44011008 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.243C>T (p.His81=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002090855]	Chr19:43526333 [GRCh38] Chr19:44030485 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.207G>T (p.Gly69=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002167729]	Chr19:43526534 [GRCh38] Chr19:44030686 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.227-9C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV002096691]	Chr19:43526358 [GRCh38] Chr19:44030510 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.552A>C (p.Thr184=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002213456]	Chr19:43508818 [GRCh38] Chr19:44012970 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.108C>T (p.Phe36=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002125984]	Chr19:43526633 [GRCh38] Chr19:44030785 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.186C>T (p.Ala62=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002079802]	Chr19:43526555 [GRCh38] Chr19:44030707 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.219C>T (p.Leu73=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002077074]	Chr19:43526522 [GRCh38] Chr19:44030674 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.227-12TC[2]	microsatellite	Ethylmalonic encephalopathy [RCV002134171]	Chr19:43526354..43526357 [GRCh38] Chr19:44030506..44030509 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.227-11C>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV002205131]	Chr19:43526360 [GRCh38] Chr19:44030512 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.430C>T (p.Leu144=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002214923]	Chr19:43511512 [GRCh38] Chr19:44015664 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.210G>C (p.Leu70=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002149762]	Chr19:43526531 [GRCh38] Chr19:44030683 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.168A>G (p.Glu56=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002173873]	Chr19:43526573 [GRCh38] Chr19:44030725 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.227-12TC[5]	microsatellite	Ethylmalonic encephalopathy [RCV002130415]	Chr19:43526353..43526354 [GRCh38] Chr19:44030505..44030506 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.633G>A (p.Leu211=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002132934]	Chr19:43508023 [GRCh38] Chr19:44012175 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.82-9del	deletion	Ethylmalonic encephalopathy [RCV002215808]	Chr19:43526668 [GRCh38] Chr19:44030820 [GRCh37] Chr19:19q13.31	benign
NM_014297.5(ETHE1):c.245C>A (p.Ala82Glu)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002244180]\|Inborn genetic diseases [RCV003382873]	Chr19:43526331 [GRCh38] Chr19:44030483 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.540A>G (p.Glu180=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002197865]	Chr19:43508830 [GRCh38] Chr19:44012982 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.595+10T>C	single nucleotide variant	Ethylmalonic encephalopathy [RCV002139489]	Chr19:43508765 [GRCh38] Chr19:44012917 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.759T>G (p.Thr253=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002137605]	Chr19:43506856 [GRCh38] Chr19:44011008 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.543G>A (p.Lys181=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002155321]	Chr19:43508827 [GRCh38] Chr19:44012979 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.376-7C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV002142657]	Chr19:43511573 [GRCh38] Chr19:44015725 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.595+19A>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV002140841]	Chr19:43508756 [GRCh38] Chr19:44012908 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.90G>A (p.Glu30=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002220342]	Chr19:43526651 [GRCh38] Chr19:44030803 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.762C>A (p.Ala254=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002081485]	Chr19:43506853 [GRCh38] Chr19:44011005 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.246G>T (p.Ala82=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002156084]	Chr19:43526330 [GRCh38] Chr19:44030482 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.417T>C (p.Cys139=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002161736]	Chr19:43511525 [GRCh38] Chr19:44015677 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.144C>T (p.Ala48=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002120517]	Chr19:43526597 [GRCh38] Chr19:44030749 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.376-12C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV002082685]	Chr19:43511578 [GRCh38] Chr19:44015730 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.423C>T (p.Thr141=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002162779]	Chr19:43511519 [GRCh38] Chr19:44015671 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.375+10G>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV002083434]	Chr19:43526191 [GRCh38] Chr19:44030343 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.405C>T (p.His135=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002137486]	Chr19:43511537 [GRCh38] Chr19:44015689 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.411A>G (p.Pro137=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002161724]	Chr19:43511531 [GRCh38] Chr19:44015683 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.506-10C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV002158534]	Chr19:43508874 [GRCh38] Chr19:44013026 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.645C>T (p.Leu215=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002161766]	Chr19:43508011 [GRCh38] Chr19:44012163 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.506-4C>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV002159313]	Chr19:43508868 [GRCh38] Chr19:44013020 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.81+13G>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV002218993]	Chr19:43527084 [GRCh38] Chr19:44031236 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.595+7G>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV002202248]	Chr19:43508768 [GRCh38] Chr19:44012920 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.309C>T (p.Ser103=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002184133]	Chr19:43526267 [GRCh38] Chr19:44030419 [GRCh37] Chr19:19q13.31	likely benign
NC_000019.9:g.(?_44011002)_(45213778_?)dup	duplication	Ethylmalonic encephalopathy [RCV003116731]	Chr19:44011002..45213778 [GRCh37] Chr19:19q13.31-13.32	uncertain significance
NM_014297.5(ETHE1):c.81+1G>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003118677]	Chr19:43527096 [GRCh38] Chr19:44031248 [GRCh37] Chr19:19q13.31	likely pathogenic
NC_000019.9:g.(44015719_44030352)_(44031409_?)dup	duplication	not specified [RCV002282893]	Chr19:44030352..44031409 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.394A>G (p.Ser132Gly)	single nucleotide variant	not specified [RCV002266456]	Chr19:43511548 [GRCh38] Chr19:44015700 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.488G>T (p.Arg163Leu)	single nucleotide variant	not provided [RCV002263177]	Chr19:43511454 [GRCh38] Chr19:44015606 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.622G>A (p.Glu208Lys)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002290122]	Chr19:43508034 [GRCh38] Chr19:44012186 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.530C>T (p.Ser177Leu)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003152959]	Chr19:43508840 [GRCh38] Chr19:44012992 [GRCh37] Chr19:19q13.31	uncertain significance
GRCh37/hg19 19q13.2-13.31(chr19:43084067-44096910)x3	copy number gain	not provided [RCV002472871]	Chr19:43084067..44096910 [GRCh37] Chr19:19q13.2-13.31	uncertain significance
NM_014297.5(ETHE1):c.576C>A (p.Tyr192Ter)	single nucleotide variant	not provided [RCV002505966]	Chr19:43508794 [GRCh38] Chr19:44012946 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.717del (p.Phe239fs)	deletion	Ethylmalonic encephalopathy [RCV002463984]	Chr19:43506898 [GRCh38] Chr19:44011050 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.702_703del (p.Gln235fs)	deletion	Ethylmalonic encephalopathy [RCV002509828]	Chr19:43507953..43507954 [GRCh38] Chr19:44012105..44012106 [GRCh37] Chr19:19q13.31	pathogenic\|likely pathogenic\|uncertain significance
NC_000019.9:g.(?_44010870)_(44013017_44015588)del	deletion	Ethylmalonic encephalopathy [RCV002308611]	Chr19:44010870..44013017 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.82-16G>C	single nucleotide variant	Ethylmalonic encephalopathy [RCV002994459]	Chr19:43526675 [GRCh38] Chr19:44030827 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.343G>C (p.Glu115Gln)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002839323]	Chr19:43526233 [GRCh38] Chr19:44030385 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.612C>T (p.Thr204=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003076350]	Chr19:43508044 [GRCh38] Chr19:44012196 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.621G>A (p.Glu207=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002908090]	Chr19:43508035 [GRCh38] Chr19:44012187 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.410C>T (p.Pro137Leu)	single nucleotide variant	Inborn genetic diseases [RCV002841202]	Chr19:43511532 [GRCh38] Chr19:44015684 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.242A>G (p.His81Arg)	single nucleotide variant	Inborn genetic diseases [RCV002817351]	Chr19:43526334 [GRCh38] Chr19:44030486 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.117G>A (p.Leu39=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003016308]	Chr19:43526624 [GRCh38] Chr19:44030776 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.81+4C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003016339]	Chr19:43527093 [GRCh38] Chr19:44031245 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.741T>C (p.Cys247=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002842563]	Chr19:43506874 [GRCh38] Chr19:44011026 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.448_469dup (p.Leu157fs)	duplication	Ethylmalonic encephalopathy [RCV002843064]	Chr19:43511472..43511473 [GRCh38] Chr19:44015624..44015625 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.227-17C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003076500]	Chr19:43526366 [GRCh38] Chr19:44030518 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.675C>A (p.Ile225=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003055560]	Chr19:43507981 [GRCh38] Chr19:44012133 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.82-9C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV002705318]	Chr19:43526668 [GRCh38] Chr19:44030820 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.2T>A (p.Met1Lys)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003079234]	Chr19:43527176 [GRCh38] Chr19:44031328 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.285C>G (p.Leu95=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002796074]	Chr19:43526291 [GRCh38] Chr19:44030443 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.141G>A (p.Glu47=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002866448]	Chr19:43526600 [GRCh38] Chr19:44030752 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.732C>T (p.Asn244=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003018588]	Chr19:43506883 [GRCh38] Chr19:44011035 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.81+7del	deletion	Ethylmalonic encephalopathy [RCV003036532]	Chr19:43527090 [GRCh38] Chr19:44031242 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.376-12C>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV002639975]	Chr19:43511578 [GRCh38] Chr19:44015730 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.406A>T (p.Thr136Ser)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003038856]	Chr19:43511536 [GRCh38] Chr19:44015688 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.762C>T (p.Ala254=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002637199]	Chr19:43506853 [GRCh38] Chr19:44011005 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.396C>T (p.Ser132=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002796917]	Chr19:43511546 [GRCh38] Chr19:44015698 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.376-4C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003040382]	Chr19:43511570 [GRCh38] Chr19:44015722 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.713-7C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003084745]	Chr19:43506909 [GRCh38] Chr19:44011061 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.544A>G (p.Ile182Val)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002663449]	Chr19:43508826 [GRCh38] Chr19:44012978 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.495C>A (p.Asp165Glu)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002745324]	Chr19:43511447 [GRCh38] Chr19:44015599 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.11C>T (p.Ala4Val)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002786573]	Chr19:43527167 [GRCh38] Chr19:44031319 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.551C>A (p.Thr184Lys)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003082506]	Chr19:43508819 [GRCh38] Chr19:44012971 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.663G>A (p.Glu221=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002711399]	Chr19:43507993 [GRCh38] Chr19:44012145 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.81+10G>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003005643]	Chr19:43527087 [GRCh38] Chr19:44031239 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.207G>C (p.Gly69=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002876599]	Chr19:43526534 [GRCh38] Chr19:44030686 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.695C>T (p.Pro232Leu)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002932771]	Chr19:43507961 [GRCh38] Chr19:44012113 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.43del (p.Gln15fs)	deletion	Ethylmalonic encephalopathy [RCV002643327]	Chr19:43527135 [GRCh38] Chr19:44031287 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.637C>T (p.Pro213Ser)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002626916]	Chr19:43508019 [GRCh38] Chr19:44012171 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.624G>A (p.Glu208=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002596152]	Chr19:43508032 [GRCh38] Chr19:44012184 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.377C>T (p.Ala126Val)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002918717]	Chr19:43511565 [GRCh38] Chr19:44015717 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.215T>C (p.Leu72Pro)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002581074]	Chr19:43526526 [GRCh38] Chr19:44030678 [GRCh37] Chr19:19q13.31	uncertain significance
NC_000019.10:g.43527263_43527264delinsAA	indel	Ethylmalonic encephalopathy [RCV003047823]	Chr19:43527263..43527264 [GRCh38] Chr19:44031415..44031416 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.339C>T (p.His113=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003029597]	Chr19:43526237 [GRCh38] Chr19:44030389 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.82-8G>C	single nucleotide variant	Ethylmalonic encephalopathy [RCV003010306]	Chr19:43526667 [GRCh38] Chr19:44030819 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.261C>T (p.Gly87=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003087899]	Chr19:43526315 [GRCh38] Chr19:44030467 [GRCh37] Chr19:19q13.31	likely benign\|uncertain significance
NM_014297.5(ETHE1):c.595+2T>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV002921945]	Chr19:43508773 [GRCh38] Chr19:44012925 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.513C>T (p.Ala171=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002770185]	Chr19:43508857 [GRCh38] Chr19:44013009 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.588T>C (p.Asp196=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003086315]	Chr19:43508782 [GRCh38] Chr19:44012934 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.505+8G>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV002646111]	Chr19:43511429 [GRCh38] Chr19:44015581 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.278C>A (p.Ser93Tyr)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002921875]	Chr19:43526298 [GRCh38] Chr19:44030450 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.24C>T (p.Val8=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003090744]	Chr19:43527154 [GRCh38] Chr19:44031306 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.306C>T (p.Ile102=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV002649864]	Chr19:43526270 [GRCh38] Chr19:44030422 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.289G>C (p.Gly97Arg)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003093648]	Chr19:43526287 [GRCh38] Chr19:44030439 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.391G>A (p.Ala131Thr)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003073029]	Chr19:43511551 [GRCh38] Chr19:44015703 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.596-1G>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV002658079]	Chr19:43508061 [GRCh38] Chr19:44012213 [GRCh37] Chr19:19q13.31	pathogenic\|likely pathogenic
NM_014297.5(ETHE1):c.227-2A>C	single nucleotide variant	Ethylmalonic encephalopathy [RCV003145014]	Chr19:43526351 [GRCh38] Chr19:44030503 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.48_49dup (p.Gly17fs)	microsatellite	Ethylmalonic encephalopathy [RCV003460032]	Chr19:43527128..43527129 [GRCh38] Chr19:44031280..44031281 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.461del (p.Asp154fs)	deletion	Ethylmalonic encephalopathy [RCV003338213]	Chr19:43511481 [GRCh38] Chr19:44015633 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.472A>G (p.Ile158Val)	single nucleotide variant	Inborn genetic diseases [RCV003357191]	Chr19:43511470 [GRCh38] Chr19:44015622 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.82-96_119del	deletion	Ethylmalonic encephalopathy [RCV003467950]	Chr19:43526622..43526755 [GRCh38] Chr19:44030774..44030907 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.542dup (p.Ile182fs)	duplication	Ethylmalonic encephalopathy [RCV003467949]	Chr19:43508827..43508828 [GRCh38] Chr19:44012979..44012980 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.78G>A (p.Arg26=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003874793]	Chr19:43527100 [GRCh38] Chr19:44031252 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.505+18C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003603656]	Chr19:43511419 [GRCh38] Chr19:44015571 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.596-4C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003603719]	Chr19:43508064 [GRCh38] Chr19:44012216 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.531G>A (p.Ser177=)	single nucleotide variant	not provided [RCV003425243]	Chr19:43508839 [GRCh38] Chr19:44012991 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.760G>A (p.Ala254Thr)	single nucleotide variant	not specified [RCV003405081]	Chr19:43506855 [GRCh38] Chr19:44011007 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.68del (p.Ile23fs)	deletion	Ethylmalonic encephalopathy [RCV003460030]	Chr19:43527110 [GRCh38] Chr19:44031262 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.703C>T (p.Gln235Ter)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003460031]	Chr19:43507953 [GRCh38] Chr19:44012105 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.388del (p.Arg130fs)	deletion	Ethylmalonic encephalopathy [RCV003467948]	Chr19:43511554 [GRCh38] Chr19:44015706 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.586G>C (p.Asp196His)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003476399]	Chr19:43508784 [GRCh38] Chr19:44012936 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.376-2A>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV003460033]	Chr19:43511568 [GRCh38] Chr19:44015720 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.375+1G>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003467951]	Chr19:43526200 [GRCh38] Chr19:44030352 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.227-1G>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003467947]	Chr19:43526350 [GRCh38] Chr19:44030502 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.461A>T (p.Asp154Val)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003448881]	Chr19:43511481 [GRCh38] Chr19:44015633 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.312_319del (p.Leu105fs)	deletion	Ethylmalonic encephalopathy [RCV003460034]	Chr19:43526257..43526264 [GRCh38] Chr19:44030409..44030416 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.596-18C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003602975]	Chr19:43508078 [GRCh38] Chr19:44012230 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.306C>A (p.Ile102=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003604279]	Chr19:43526270 [GRCh38] Chr19:44030422 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.706C>T (p.Gln236Ter)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003602593]	Chr19:43507950 [GRCh38] Chr19:44012102 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.596-17C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003602663]	Chr19:43508077 [GRCh38] Chr19:44012229 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.595+14G>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV003879314]	Chr19:43508761 [GRCh38] Chr19:44012913 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.82-16G>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV003602853]	Chr19:43526675 [GRCh38] Chr19:44030827 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.713-8C>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV003602867]	Chr19:43506910 [GRCh38] Chr19:44011062 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.596-13C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003603207]	Chr19:43508073 [GRCh38] Chr19:44012225 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.241del (p.His81fs)	deletion	Ethylmalonic encephalopathy [RCV003604638]	Chr19:43526335 [GRCh38] Chr19:44030487 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.81+16C>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV003602721]	Chr19:43527081 [GRCh38] Chr19:44031233 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.595+1_595+9dup	duplication	Ethylmalonic encephalopathy [RCV003602745]	Chr19:43508765..43508766 [GRCh38] Chr19:44012917..44012918 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.227-18C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003602889]	Chr19:43526367 [GRCh38] Chr19:44030519 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.82-9C>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV003602775]	Chr19:43526668 [GRCh38] Chr19:44030820 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.227-2A>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV003602914]	Chr19:43526351 [GRCh38] Chr19:44030503 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.82-12C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003602819]	Chr19:43526671 [GRCh38] Chr19:44030823 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.135C>T (p.Ser45=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003604654]	Chr19:43526606 [GRCh38] Chr19:44030758 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.505+7A>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV003604760]	Chr19:43511430 [GRCh38] Chr19:44015582 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.207_208delinsAT (p.Gly69_Leu70=)	indel	Ethylmalonic encephalopathy [RCV003603954]	Chr19:43526533..43526534 [GRCh38] Chr19:44030685..44030686 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.129_132del (p.Arg43fs)	microsatellite	Ethylmalonic encephalopathy [RCV003604027]	Chr19:43526609..43526612 [GRCh38] Chr19:44030761..44030764 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.252_253dup (p.Ile85fs)	microsatellite	Ethylmalonic encephalopathy [RCV003605022]	Chr19:43526322..43526323 [GRCh38] Chr19:44030474..44030475 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.246G>C (p.Ala82=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003604480]	Chr19:43526330 [GRCh38] Chr19:44030482 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.522G>A (p.Leu174=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003604368]	Chr19:43508848 [GRCh38] Chr19:44013000 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.63C>T (p.Ala21=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003602636]	Chr19:43527115 [GRCh38] Chr19:44031267 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.1A>C (p.Met1Leu)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003604501]	Chr19:43527177 [GRCh38] Chr19:44031329 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.82-15G>C	single nucleotide variant	Ethylmalonic encephalopathy [RCV003604744]	Chr19:43526674 [GRCh38] Chr19:44030826 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.375+9G>C	single nucleotide variant	Ethylmalonic encephalopathy [RCV003605031]	Chr19:43526192 [GRCh38] Chr19:44030344 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.351A>G (p.Gly117=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003604079]	Chr19:43526225 [GRCh38] Chr19:44030377 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.36G>A (p.Gln12=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003602571]	Chr19:43527142 [GRCh38] Chr19:44031294 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.375+12G>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV003602572]	Chr19:43526189 [GRCh38] Chr19:44030341 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.120G>A (p.Leu40=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003882367]	Chr19:43526621 [GRCh38] Chr19:44030773 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.609C>T (p.Ser203=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003604416]	Chr19:43508047 [GRCh38] Chr19:44012199 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.227-13C>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV003604570]	Chr19:43526362 [GRCh38] Chr19:44030514 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.15A>G (p.Val5=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003880110]	Chr19:43527163 [GRCh38] Chr19:44031315 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.552A>G (p.Thr184=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003604597]	Chr19:43508818 [GRCh38] Chr19:44012970 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.712+13G>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV003604680]	Chr19:43507931 [GRCh38] Chr19:44012083 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.375+13_375+16dup	duplication	Ethylmalonic encephalopathy [RCV003604118]	Chr19:43526184..43526185 [GRCh38] Chr19:44030336..44030337 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.61del (p.Ala21fs)	deletion	Ethylmalonic encephalopathy [RCV003604771]	Chr19:43527117 [GRCh38] Chr19:44031269 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.595+15G>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV003604810]	Chr19:43508760 [GRCh38] Chr19:44012912 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.505+20A>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV003604378]	Chr19:43511417 [GRCh38] Chr19:44015569 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.216G>A (p.Leu72=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003604413]	Chr19:43526525 [GRCh38] Chr19:44030677 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.418_419del (p.Val140fs)	microsatellite	Ethylmalonic encephalopathy [RCV003498294]	Chr19:43511523..43511524 [GRCh38] Chr19:44015675..44015676 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.376-13C>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV003603348]	Chr19:43511579 [GRCh38] Chr19:44015731 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.463dup (p.Ala155fs)	duplication	Ethylmalonic encephalopathy [RCV003499018]	Chr19:43511478..43511479 [GRCh38] Chr19:44015630..44015631 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.165G>C (p.Leu55=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003498899]	Chr19:43526576 [GRCh38] Chr19:44030728 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.401_402del (p.Gly134fs)	deletion	Ethylmalonic encephalopathy [RCV003498998]	Chr19:43511540..43511541 [GRCh38] Chr19:44015692..44015693 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.226+10G>C	single nucleotide variant	Ethylmalonic encephalopathy [RCV003498056]	Chr19:43526505 [GRCh38] Chr19:44030657 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.459A>C (p.Gly153=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003498159]	Chr19:43511483 [GRCh38] Chr19:44015635 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.570G>A (p.Leu190=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003499722]	Chr19:43508800 [GRCh38] Chr19:44012952 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.82-19del	deletion	Ethylmalonic encephalopathy [RCV003816910]	Chr19:43526678 [GRCh38] Chr19:44030830 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.459A>G (p.Gly153=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003499943]	Chr19:43511483 [GRCh38] Chr19:44015635 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.375+20C>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV003851995]	Chr19:43526181 [GRCh38] Chr19:44030333 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.82-13C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003839822]	Chr19:43526672 [GRCh38] Chr19:44030824 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.226+8C>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV003498058]	Chr19:43526507 [GRCh38] Chr19:44030659 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.399T>G (p.Pro133=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003498545]	Chr19:43511543 [GRCh38] Chr19:44015695 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.712+54T>C	single nucleotide variant	not provided [RCV004585364]	Chr19:43507890 [GRCh38] Chr19:44012042 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.72C>T (p.Leu24=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003498927]	Chr19:43527106 [GRCh38] Chr19:44031258 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.712+15A>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003603510]	Chr19:43507929 [GRCh38] Chr19:44012081 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.153C>A (p.Ile51=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003499642]	Chr19:43526588 [GRCh38] Chr19:44030740 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.81+10G>C	single nucleotide variant	Ethylmalonic encephalopathy [RCV003497739]	Chr19:43527087 [GRCh38] Chr19:44031239 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.630T>G (p.Thr210=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003498529]	Chr19:43508026 [GRCh38] Chr19:44012178 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.375+10G>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003812003]	Chr19:43526191 [GRCh38] Chr19:44030343 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.226+12G>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003498156]	Chr19:43526503 [GRCh38] Chr19:44030655 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.639T>C (p.Pro213=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003498408]	Chr19:43508017 [GRCh38] Chr19:44012169 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.756C>T (p.Pro252=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003498477]	Chr19:43506859 [GRCh38] Chr19:44011011 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.644T>G (p.Leu215Arg)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003498510]	Chr19:43508012 [GRCh38] Chr19:44012164 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.19_20dup (p.Val8fs)	duplication	Ethylmalonic encephalopathy [RCV003499913]	Chr19:43527157..43527158 [GRCh38] Chr19:44031309..44031310 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.506-8T>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV003497715]	Chr19:43508872 [GRCh38] Chr19:44013024 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.618G>A (p.Glu206=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003498043]	Chr19:43508038 [GRCh38] Chr19:44012190 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.82-2A>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV003498076]	Chr19:43526661 [GRCh38] Chr19:44030813 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.402C>G (p.Gly134=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003498175]	Chr19:43511540 [GRCh38] Chr19:44015692 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.171A>T (p.Thr57=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003498274]	Chr19:43526570 [GRCh38] Chr19:44030722 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.195C>A (p.Ile65=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003858543]	Chr19:43526546 [GRCh38] Chr19:44030698 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.712+17C>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV003857378]	Chr19:43507927 [GRCh38] Chr19:44012079 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.387C>T (p.Thr129=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003869776]	Chr19:43511555 [GRCh38] Chr19:44015707 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.595+18G>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV003870331]	Chr19:43508757 [GRCh38] Chr19:44012909 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.30G>A (p.Arg10=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003867147]	Chr19:43527148 [GRCh38] Chr19:44031300 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.376-11del	deletion	Ethylmalonic encephalopathy [RCV003843181]	Chr19:43511577 [GRCh38] Chr19:44015729 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.82-20C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV003864223]	Chr19:43526679 [GRCh38] Chr19:44030831 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.376-10C>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV003847471]	Chr19:43511576 [GRCh38] Chr19:44015728 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.396_397insAC (p.Pro133fs)	insertion	Ethylmalonic encephalopathy [RCV003822200]	Chr19:43511545..43511546 [GRCh38] Chr19:44015697..44015698 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.219C>G (p.Leu73=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV003861395]	Chr19:43526522 [GRCh38] Chr19:44030674 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.534C>T (p.Val178=)	single nucleotide variant	ETHE1-related disorder [RCV003893696]	Chr19:43508836 [GRCh38] Chr19:44012988 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.263C>T (p.Ser88Leu)	single nucleotide variant	Ethylmalonic encephalopathy [RCV004586319]	Chr19:43526313 [GRCh38] Chr19:44030465 [GRCh37] Chr19:19q13.31	likely pathogenic
NC_000019.9:g.(?_44015569)_(44015738_?)del	deletion	Ethylmalonic encephalopathy [RCV004581085]	Chr19:44015569..44015738 [GRCh37] Chr19:19q13.31	pathogenic
NC_000019.9:g.(?_44030333)_(44031420_?)del	deletion	Ethylmalonic encephalopathy [RCV004581086]	Chr19:44030333..44031420 [GRCh37] Chr19:19q13.31	pathogenic
NC_000019.9:g.(?_44011044)_(44014899_?)del	deletion	Ethylmalonic encephalopathy [RCV004581087]	Chr19:44011044..44014899 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.501del (p.Gln167fs)	deletion	Ethylmalonic encephalopathy [RCV004576419]	Chr19:43511441 [GRCh38] Chr19:44015593 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.110C>G (p.Thr37Arg)	single nucleotide variant	Inborn genetic diseases [RCV004622713]	Chr19:43526631 [GRCh38] Chr19:44030783 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.233C>T (p.Thr78Ile)	single nucleotide variant	Ethylmalonic encephalopathy [RCV004595306]	Chr19:43526343 [GRCh38] Chr19:44030495 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.495del (p.Phe166fs)	deletion	Ethylmalonic encephalopathy [RCV004576418]	Chr19:43511447 [GRCh38] Chr19:44015599 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.56del (p.Ser19fs)	deletion	Ethylmalonic encephalopathy [RCV004576420]	Chr19:43527122 [GRCh38] Chr19:44031274 [GRCh37] Chr19:19q13.31	likely pathogenic
NC_000019.9:g.(44015719_44030352)_(44031354_?)del	deletion	Ethylmalonic encephalopathy [RCV004703069]	Chr19:44030352..44031354 [GRCh37] Chr19:19q13.31	pathogenic
ETHE1, GLN27LYS	variation	Ethylmalonic encephalopathy [RCV004767771]		pathogenic
NM_014297.5(ETHE1):c.493G>C (p.Asp165His)	single nucleotide variant	Ethylmalonic encephalopathy [RCV004767772]	Chr19:43511449 [GRCh38] Chr19:44015601 [GRCh37] Chr19:19q13.31	pathogenic\|uncertain significance
D196N	single nucleotide variant	Ethylmalonic encephalopathy [RCV004767773]		pathogenic
NM_014297.5(ETHE1):c.580G>C (p.Ala194Pro)	single nucleotide variant	Ethylmalonic encephalopathy [RCV004764825]	Chr19:43508790 [GRCh38] Chr19:44012942 [GRCh37] Chr19:19q13.31	pathogenic\|uncertain significance
NM_014297.5(ETHE1):c.81+1del	deletion	Ethylmalonic encephalopathy [RCV005012282]	Chr19:43527096 [GRCh38] Chr19:44031248 [GRCh37] Chr19:19q13.31	pathogenic
NM_014297.5(ETHE1):c.22G>A (p.Val8Ile)	single nucleotide variant	Inborn genetic diseases [RCV004982265]	Chr19:43527156 [GRCh38] Chr19:44031308 [GRCh37] Chr19:19q13.31	uncertain significance
NM_014297.5(ETHE1):c.506-1G>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV005015771]	Chr19:43508865 [GRCh38] Chr19:44013017 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_014297.5(ETHE1):c.669C>T (p.Val223=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV005127917]	Chr19:43507987 [GRCh38] Chr19:44012139 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.213G>A (p.Arg71=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV005194321]	Chr19:43526528 [GRCh38] Chr19:44030680 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.595+12C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV005162524]	Chr19:43508763 [GRCh38] Chr19:44012915 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.227-13C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV005164476]	Chr19:43526362 [GRCh38] Chr19:44030514 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.376-16C>T	single nucleotide variant	Ethylmalonic encephalopathy [RCV005114596]	Chr19:43511582 [GRCh38] Chr19:44015734 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.66C>T (p.Pro22=)	single nucleotide variant	Ethylmalonic encephalopathy [RCV005163829]	Chr19:43527112 [GRCh38] Chr19:44031264 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.713-11C>A	single nucleotide variant	Ethylmalonic encephalopathy [RCV005120120]	Chr19:43506913 [GRCh38] Chr19:44011065 [GRCh37] Chr19:19q13.31	likely benign
NM_014297.5(ETHE1):c.375+13C>G	single nucleotide variant	Ethylmalonic encephalopathy [RCV005202017]	Chr19:43526188 [GRCh38] Chr19:44030340 [GRCh37] Chr19:19q13.31	likely benign

Predicted Target Of

	Summary Value
Count of predictions:	1832
Count of miRNA genes:	671
Interacting mature miRNAs:	775
Transcripts:	ENST00000292147, ENST00000594342, ENST00000595115, ENST00000598330, ENST00000600651, ENST00000602138
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
1559110	SCL22_H	Serum cholesterol level QTL 22 (human)	3.59	0.000241	Lipid level	LDL cholesterol	19	31907594	57907594	Human
597282115	GWAS1378189_H	Ly6/PLAUR domain-containing protein 3 measurement QTL GWAS1378189 (human)		5e-08	Ly6/PLAUR domain-containing protein 3 measurement		19	43522915	43522916	Human
1331657	COPD9_H	Chronic obstructive pulmonary disease QTL 9 (human)	1.94		Chronic airflow obstruction	post-bronchodilator FEV1	19	31021760	57021760	Human

D19S537

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	113,016,891 - 113,018,179	UniSTS	GRCh37
GRCh37	19	44,031,850 - 44,032,011	UniSTS	GRCh37
Celera	19	40,834,483 - 40,834,646	UniSTS
Cytogenetic Map	19	q13.31	UniSTS
HuRef	19	40,462,515 - 40,462,678	UniSTS
Marshfield Genetic Map	19	66.07	RGD

ETHE1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	44,012,137 - 44,012,959	UniSTS	GRCh37
Celera	19	40,812,890 - 40,813,714	UniSTS
HuRef	19	40,441,721 - 40,442,548	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_008141	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001320867	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001320868	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001320869	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_014297	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005258687	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054320398	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC018758	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI879202	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK309880	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315346	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC008250	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG706505	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP252912	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D83198	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178565	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178566	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178567	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000292147 ⟹ ENSP00000292147

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,506,719 - 43,527,201 (-)	Ensembl

Ensembl Acc Id:

ENST00000594342 ⟹ ENSP00000469652

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,506,792 - 43,527,205 (-)	Ensembl

Ensembl Acc Id:

ENST00000595115

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,526,201 - 43,527,230 (-)	Ensembl

Ensembl Acc Id:

ENST00000598330 ⟹ ENSP00000469219

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,507,637 - 43,527,222 (-)	Ensembl

Ensembl Acc Id:

ENST00000600651 ⟹ ENSP00000469037

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,507,628 - 43,527,201 (-)	Ensembl

Ensembl Acc Id:

ENST00000602138 ⟹ ENSP00000468964

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,511,469 - 43,527,192 (-)	Ensembl

RefSeq Acc Id:

NM_001320867 ⟹ NP_001307796

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,506,719 - 43,527,201 (-)	NCBI
CHM1_1	19	44,012,533 - 44,033,070 (-)	NCBI
T2T-CHM13v2.0	19	46,327,106 - 46,348,731 (-)	NCBI

Sequence:

show sequence

ATTCCTGACCCCGCAGTGGGCGCGATGGCGGAGGCTGTACTGAGGGTCGCCCGGCGGCAGCTGAGCCAGCGCGGCGGGTCTGGAGCCCCCATCCTCCTGCGGCAGATGTTCGAGCCTGTGAGCTGCAC
CTTCACGTACCTGCTGGGTGACAGAGAGTCCCGGGAGGCCGTTCTGATCGACCCAGTCCTGGAAACAGCGCCTCGGGATGCCCAGCTGATCAAGGAGCTGGGGCTGCGGCTGCTCTATGCTGGCTCGG
GGCTGCTCCGTTCCCTCCTCCCTGGCTGCCAGTCTGTCATCTCCCGCCTTAGTGGGGCCCAGGCTGACTTACACATTGAGGATGGAGACTCCATCCGCTTCGGGCGCTTCGCGTTGGAGACCAGGGCC
AGCCCTGGCCACACCCCAGGCTGTGTCACCTTCGTCCTGAATGACCACAGCATGGCCTTCACTGGAGATGCCCTGTTGATCCGTGGGTGTGGGCGGACAGACTTCCAGCAAGGCTGTGCCAAGACCTT
GTACCACTCGGTCCATGAAAAGATCTTCACACTTCCAGGAGACTGTCTGATCTACCCTGCTCACGATTACCATGGGTTCACAGTGTCCACCGTGGAGGAGGAGAGGACTCTGAACCCTCGGCTCACCC
TCAGCTGTGAGGAGTTTGTCAAAATCATGGGCAACCTGAACTTGCCTAAACCTCAGCAGATAGACTTTGCTGTTCCAGCCAACATGCGCTGTGGGGTGCAGACACCCACTGCCTGATCTCACTTCTGT
CAGATGCTCCCATCCACTATTAATGCACTAGGTGGGAGGAGAGGGCGGCAATGACACTGCACCTCTCCTTTCCCACCGCATTCCCTGGAGCTCCCTAAATAAAACTTTTTTTAACGTGA

hide sequence

RefSeq Acc Id:

NM_001320868 ⟹ NP_001307797

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,506,719 - 43,527,201 (-)	NCBI
CHM1_1	19	44,012,533 - 44,033,070 (-)	NCBI
T2T-CHM13v2.0	19	46,327,106 - 46,348,731 (-)	NCBI

Sequence:

show sequence

ATTCCTGACCCCGCAGTGGGCGCGATGGCGGAGGCTGTACTGAGGGTCGCCCGGCGGCAGCTGAGCCAGCGCGGCGGGTCTGGAGCCCCCATCCTCCTGCGGCAGATGTTCGAGCCTGTGAGCTGCAC
CTTCACGTACCTGCTGGGTGACAGAGAGTCCCGGGAGGCCGTTCTGATCGACCCAGTCCTGGAAACAGCGCCTCGGGATGCCCAGCTGATCAAGGAGCTGGGGCTGCGGCTGCTCTATGCTGGCGTTG
GAGACCAGGGCCAGCCCTGGCCACACCCCAGGCTGTGTCACCTTCGTCCTGAATGACCACAGCATGGCCTTCACTGGAGATGCCCTGTTGATCCGTGGGTGTGGGCGGACAGACTTCCAGCAAGGCTG
TGCCAAGACCTTGTACCACTCGGTCCATGAAAAGATCTTCACACTTCCAGGAGACTGTCTGATCTACCCTGCTCACGATTACCATGGGTTCACAGTGTCCACCGTGGAGGAGGAGAGGACTCTGAACC
CTCGGCTCACCCTCAGCTGTGAGGAGTTTGTCAAAATCATGGGCAACCTGAACTTGCCTAAACCTCAGCAGATAGACTTTGCTGTTCCAGCCAACATGCGCTGTGGGGTGCAGACACCCACTGCCTGA
TCTCACTTCTGTCAGATGCTCCCATCCACTATTAATGCACTAGGTGGGAGGAGAGGGCGGCAATGACACTGCACCTCTCCTTTCCCACCGCATTCCCTGGAGCTCCCTAAATAAAACTTTTTTTAACG
TGA

hide sequence

RefSeq Acc Id:

NM_001320869 ⟹ NP_001307798

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,506,719 - 43,527,201 (-)	NCBI
CHM1_1	19	44,012,533 - 44,033,070 (-)	NCBI
T2T-CHM13v2.0	19	46,327,106 - 46,348,731 (-)	NCBI

Sequence:

show sequence

ATTCCTGACCCCGCAGTGGGCGCGATGGCGGAGGCTGTACTGAGGGTCGCCCGGCGGCAGCTGA
GCCAGCGCGGCGGGTCTGGAGCCCCCATCCTCCTGCGGCAGGCGTTGGAGACCAGGGCCAGCCCTGGCCACACCCCAGGCTGTGTCACCTTCGTCCTGAATGACCACAGCATGGCCTTCACTGGAGAT
GCCCTGTTGATCCGTGGGTGTGGGCGGACAGACTTCCAGCAAGGCTGTGCCAAGACCTTGTACCACTCGGTCCATGAAAAGATCTTCACACTTCCAGGAGACTGTCTGATCTACCCTGCTCACGATTA
CCATGGGTTCACAGTGTCCACCGTGGAGGAGGAGAGGACTCTGAACCCTCGGCTCACCCTCAGCTGTGAGGAGTTTGTCAAAATCATGGGCAACCTGAACTTGCCTAAACCTCAGCAGATAGACTTTG
CTGTTCCAGCCAACATGCGCTGTGGGGTGCAGACACCCACTGCCTGATCTCACTTCTGTCAGATGCTCCCATCCACTATTAATGCACTAGGTGGGAGGAGAGGGCGGCAATGACACTGCACCTCTCCT
TTCCCACCGCATTCCCTGGAGCTCCCTAAATAAAACTTTTTTTAACGTGA

hide sequence

RefSeq Acc Id:

NM_014297 ⟹ NP_055112

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,506,719 - 43,527,201 (-)	NCBI
GRCh37	19	44,010,871 - 44,031,408 (-)	NCBI
Build 36	19	48,702,711 - 48,723,236 (-)	NCBI Archive
Celera	19	40,811,624 - 40,834,029 (-)	RGD
HuRef	19	40,440,766 - 40,462,063 (-)	RGD
CHM1_1	19	44,012,533 - 44,033,070 (-)	NCBI
T2T-CHM13v2.0	19	46,327,106 - 46,348,731 (-)	NCBI

Sequence:

show sequence

ATTCCTGACCCCGCAGTGGGCGCGATGGCGGAGGCTGTACTGAGGGTCGCCCGGCGGCAGCTGA
GCCAGCGCGGCGGGTCTGGAGCCCCCATCCTCCTGCGGCAGATGTTCGAGCCTGTGAGCTGCACCTTCACGTACCTGCTGGGTGACAGAGAGTCCCGGGAGGCCGTTCTGATCGACCCAGTCCTGGAA
ACAGCGCCTCGGGATGCCCAGCTGATCAAGGAGCTGGGGCTGCGGCTGCTCTATGCTGTGAATACCCACTGCCACGCGGACCACATTACAGGCTCGGGGCTGCTCCGTTCCCTCCTCCCTGGCTGCCA
GTCTGTCATCTCCCGCCTTAGTGGGGCCCAGGCTGACTTACACATTGAGGATGGAGACTCCATCCGCTTCGGGCGCTTCGCGTTGGAGACCAGGGCCAGCCCTGGCCACACCCCAGGCTGTGTCACCT
TCGTCCTGAATGACCACAGCATGGCCTTCACTGGAGATGCCCTGTTGATCCGTGGGTGTGGGCGGACAGACTTCCAGCAAGGCTGTGCCAAGACCTTGTACCACTCGGTCCATGAAAAGATCTTCACA
CTTCCAGGAGACTGTCTGATCTACCCTGCTCACGATTACCATGGGTTCACAGTGTCCACCGTGGAGGAGGAGAGGACTCTGAACCCTCGGCTCACCCTCAGCTGTGAGGAGTTTGTCAAAATCATGGG
CAACCTGAACTTGCCTAAACCTCAGCAGATAGACTTTGCTGTTCCAGCCAACATGCGCTGTGGGGTGCAGACACCCACTGCCTGATCTCACTTCTGTCAGATGCTCCCATCCACTATTAATGCACTAG
GTGGGAGGAGAGGGCGGCAATGACACTGCACCTCTCCTTTCCCACCGCATTCCCTGGAGCTCCCTAAATAAAACTTTTTTTAACGTGA

hide sequence

RefSeq Acc Id:

XM_005258687 ⟹ XP_005258744

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,506,719 - 43,527,201 (-)	NCBI
GRCh37	19	44,010,871 - 44,031,408 (-)	NCBI

Sequence:

show sequence

GACCCCGCAGTGGGCGCGATGGCGGAGGCTGTACTGAGGGTCGCCCGGCGGCAGCTGAGCCAGCGCGGCGGGTCTGGAGCCCCCATCCTCCTGCGGCAGGTGCGGGTGGCTGGACCTAGGAGGGGACT
GCTGGGCACTAGGCGGCAGCAAGGACGGAACTCCGGGGTCTCTTAATAGGGAGAGATCCGGGGGGACCCACGCCTGCATCTTGCGGAAAGCGGGGTGGAGGTTTAGGGCTGGACTCTTGGGTCCTTTA
AAGATGTTCGAGCCTGTGAGCTGCACCTTCACGTACCTGCTGGGTGACAGAGAGTCCCGGGAGGCCGTTCTGATCGACCCAGTCCTGGAAACAGCGCCTCGGGATGCCCAGCTGATCAAGGAGCTGGG
GCTGCGGCTGCTCTATGCTGTGAATACCCACTGCCACGCGGACCACATTACAGGCTCGGGGCTGCTCCGTTCCCTCCTCCCTGGCTGCCAGTCTGTCATCTCCCGCCTTAGTGGGGCCCAGGCTGACT
TACACATTGAGGATGGAGACTCCATCCGCTTCGGGCGCTTCGCGTTGGAGACCAGGGCCAGCCCTGGCCACACCCCAGGCTGTGTCACCTTCGTCCTGAATGACCACAGCATGGCCTTCACTGGAGAT
GCCCTGTTGATCCGTGGGTGTGGGCGGACAGACTTCCAGCAAGGCTGTGCCAAGACCTTGTACCACTCGGTCCATGAAAAGATCTTCACACTTCCAGGAGACTGTCTGATCTACCCTGCTCACGATTA
CCATGGGTTCACAGTGTCCACCGTGGAGGAGGAGAGGACTCTGAACCCTCGGCTCACCCTCAGCTGTGAGGAGTTTGTCAAAATCATGGGCAACCTGAACTTGCCTAAACCTCAGCAGATAGACTTTG
CTGTTCCAGCCAACATGCGCTGTGGGGTGCAGACACCCACTGCCTGATCTCACTTCTGTCAGATGCTCCCATCCACTATTAATGCACTAGGTGGGAGGAGAGGGCGGCAATGACACTGCACCTCTCCT
TTCCCACCGCATTCCCTGGAGCTCCCTAAATAAAACTTTTTTTAACGTGA

hide sequence

RefSeq Acc Id:

XM_054320398 ⟹ XP_054176373

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	46,327,106 - 46,348,785 (-)	NCBI


Protein RefSeqs	NP_001307796	(Get FASTA)	NCBI Sequence Viewer
	NP_001307797	(Get FASTA)	NCBI Sequence Viewer
	NP_001307798	(Get FASTA)	NCBI Sequence Viewer
	NP_055112	(Get FASTA)	NCBI Sequence Viewer
	XP_005258744	(Get FASTA)	NCBI Sequence Viewer
	XP_054176373	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAG09063	(Get FASTA)	NCBI Sequence Viewer
	AAH08250	(Get FASTA)	NCBI Sequence Viewer
	ALQ34023	(Get FASTA)	NCBI Sequence Viewer
	ALQ34024	(Get FASTA)	NCBI Sequence Viewer
	ALQ34025	(Get FASTA)	NCBI Sequence Viewer
	BAA34595	(Get FASTA)	NCBI Sequence Viewer
	BAG37744	(Get FASTA)	NCBI Sequence Viewer
	EAW57195	(Get FASTA)	NCBI Sequence Viewer
	EAW57196	(Get FASTA)	NCBI Sequence Viewer
	EAW57197	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000292147
	ENSP00000292147.1
GenBank Protein	O95571	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_055112 ⟸ NM_014297
- Peptide Label:	isoform 1
- UniProtKB:	Q96HR0 (UniProtKB/Swiss-Prot), Q9H001 (UniProtKB/Swiss-Prot), O95571 (UniProtKB/Swiss-Prot), A0A0S2Z5B3 (UniProtKB/TrEMBL), M0QXB5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHCHADHITGSGLLRSLLPGCQSVISRLSGAQADLHIEDGDSIRFGRFALE TRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQTPTA hide sequence

RefSeq Acc Id:	XP_005258744 ⟸ XM_005258687
- Peptide Label:	isoform X1
- UniProtKB:	B2RCZ7 (UniProtKB/TrEMBL), M0QXB5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAVNTHCHADHITGSGLLRSLLPGCQSVISRLSGAQADLHIEDGDSIRFGRFALETRASPGHTPGCVTFVLNDHSMAFTGDA LLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQTPTA hide sequence

RefSeq Acc Id:	NP_001307798 ⟸ NM_001320869
- Peptide Label:	isoform 4
- UniProtKB:	A0A0S2Z5N8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAEAVLRVARRQLSQRGGSGAPILLRQALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPRLTLSCEEFVKIM GNLNLPKPQQIDFAVPANMRCGVQTPTA hide sequence

RefSeq Acc Id:	NP_001307797 ⟸ NM_001320868
- Peptide Label:	isoform 3
- UniProtKB:	O95571 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLALETRASPGHTPGCVTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPG DCLIYPAHDYHGFTVSTVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQTPTA hide sequence

RefSeq Acc Id:	NP_001307796 ⟸ NM_001320867
- Peptide Label:	isoform 2
- UniProtKB:	A0A0S2Z580 (UniProtKB/TrEMBL), M0QXB5 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAEAVLRVARRQLSQRGGSGAPILLRQMFEPVSCTFTYLLGDRESREAVLIDPVLETAPRDAQLIKELGLRLLYAGSGLLRSLLPGCQSVISRLSGAQADLHIEDGDSIRFGRFALETRASPGHTPGC VTFVLNDHSMAFTGDALLIRGCGRTDFQQGCAKTLYHSVHEKIFTLPGDCLIYPAHDYHGFTVSTVEEERTLNPRLTLSCEEFVKIMGNLNLPKPQQIDFAVPANMRCGVQTPTA hide sequence

Protein Domains

Metallo-beta-lactamase

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O95571-F1-model_v2	AlphaFold	O95571	1-254	view protein structure

RGD ID:

7240229

Promoter ID:

EPDNEW_H25861

Type:

initiation region

Name:

ETHE1_1

Description:

ETHE1, persulfide dioxygenase

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	19	43,527,198 - 43,527,258	EPDNEW

RGD ID:

6795536

Promoter ID:

HG_KWN:30150

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

NM_014297, UC010EIU.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	48,722,909 - 48,723,409 (-)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	ETHE1	COSMIC
Ensembl Genes	ENSG00000105755	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000292147	ENTREZGENE
	ENST00000292147.7	UniProtKB/Swiss-Prot
Gene3D-CATH	3.60.15.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000105755	GTEx
HGNC ID	HGNC:23287	ENTREZGENE
Human Proteome Map	ETHE1	Human Proteome Map
InterPro	Metallo-B-lactamas	UniProtKB/Swiss-Prot
	Mito_Persulfide_Diox	UniProtKB/Swiss-Prot
	POD-like_MBL-fold	UniProtKB/Swiss-Prot
	RibonucZ/Hydroxyglut_hydro	UniProtKB/Swiss-Prot
KEGG Report	hsa:23474	UniProtKB/Swiss-Prot
NCBI Gene	23474	ENTREZGENE
OMIM	608451	OMIM
PANTHER	PERSULFIDE DIOXYGENASE ETHE1	UniProtKB/Swiss-Prot
	PERSULFIDE DIOXYGENASE ETHE1, MITOCHONDRIAL	UniProtKB/Swiss-Prot
Pfam	Lactamase_B	UniProtKB/Swiss-Prot
PharmGKB	PA134879650	PharmGKB
SMART	Lactamase_B	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF56281	UniProtKB/Swiss-Prot
UniProt	A0A0S2Z580	ENTREZGENE, UniProtKB/TrEMBL
	A0A0S2Z5B3	ENTREZGENE, UniProtKB/TrEMBL
	A0A0S2Z5N8	ENTREZGENE, UniProtKB/TrEMBL
	B2RCZ7	ENTREZGENE, UniProtKB/TrEMBL
	ETHE1_HUMAN	UniProtKB/Swiss-Prot
	M0QX80_HUMAN	UniProtKB/TrEMBL
	M0QXB5	ENTREZGENE, UniProtKB/TrEMBL
	M0QY80_HUMAN	UniProtKB/TrEMBL
	O95571	ENTREZGENE
	Q96HR0	ENTREZGENE
	Q9H001	ENTREZGENE
UniProt Secondary	Q96HR0	UniProtKB/Swiss-Prot
	Q9H001	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-01-29	ETHE1	ETHE1 persulfide dioxygenase	ETHE1	ETHE1, persulfide dioxygenase	Symbol and/or name change	5135510	APPROVED
2016-05-03	ETHE1	ETHE1, persulfide dioxygenase	ETHE1	ethylmalonic encephalopathy 1	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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