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Gene: ATAD3A (ATPase family AAA domain containing 3A) Homo sapiens

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Symbol:

ATAD3A

Name:

ATPase family AAA domain containing 3A

RGD ID:

1314304

HGNC Page

HGNC:25567

Description:

Enables several functions, including ATP binding activity; ATP hydrolysis activity; and identical protein binding activity. Involved in several processes, including antiviral innate immune response; negative regulation of PERK-mediated unfolded protein response; and regulation of cell growth. Located in mitochondrion. Is active in mitochondria-associated endoplasmic reticulum membrane contact site and mitochondrial inner membrane. Implicated in Harel-Yoon syndrome and neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ATPase family AAA domain-containing protein 3A; ATPase family, AAA domain containing 3A; FLJ10709; FLJ35514; HAYOS; PHRINL

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):	Atad3a (ATPase family, AAA domain containing 3A)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Atad3a (ATPase family, AAA domain containing 3A)	HGNC	EggNOG, Ensembl, HomoloGene, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Canis lupus familiaris (dog):	ATAD3A (ATPase family AAA domain containing 3A)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Sus scrofa (pig):	LOC100525876 (ATPase family AAA domain-containing protein 3)	HGNC	Ensembl, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	ATAD3A (ATPase family AAA domain containing 3A)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Atad3a (ATPase family, AAA domain containing 3A)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Atad3a (ATPase family, AAA domain containing 3A)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	atad3 (ATPase family AAA domain containing 3)	Alliance	DIOPT (OrthoFinder\|OrthoInspector\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	atad-3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	bor	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	bor	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	atad3a	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	atad3a.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	atad3a.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	1	1,512,162 - 1,534,685 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	1,512,162 - 1,534,685 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	1,447,542 - 1,470,065 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	1,437,418 - 1,459,927 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	1,532,821 - 1,555,331	NCBI
Celera	1	1,110,376 - 1,132,920 (-)	NCBI		Celera
Cytogenetic Map	1	p36.33	NCBI
HuRef	1	720,811 - 743,664 (+)	NCBI		HuRef
CHM1_1	1	1,434,817 - 1,457,345 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	946,666 - 969,189 (+)	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)
ATAD3A	Human	cerebellar hypoplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	ClinVar	PMID:25741868 and PMID:31727539
ATAD3A	Human	chromosome 1p36 deletion syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome	ClinVar	PMID:25741868
ATAD3A	Human	congenital myasthenic syndrome 8		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital myasthenic syndrome 8	ClinVar	PMID:24951643 and PMID:28492532
ATAD3A	Human	dilated cardiomyopathy 1LL		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Left ventricular noncompaction 8	ClinVar	PMID:28492532
ATAD3A	Human	Ehlers-Danlos syndrome spondylodysplastic type 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ehlers-Danlos syndrome more ...	ClinVar	PMID:10862081 more ...
ATAD3A	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:33023636
ATAD3A	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
ATAD3A	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868
ATAD3A	Human	Goldberg-Shprintzen syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	ClinVar	PMID:28492532
ATAD3A	Human	Goldberg-Shprintzen syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	ClinVar	PMID:23892090 more ...
ATAD3A	Human	Harel-Yoon syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Harel-Yoon syndrome	ClinVar	PMID:25741868 more ...
ATAD3A	Human	Harel-Yoon syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Harel-Yoon syndrome	ClinVar	PMID:25741868 and PMID:32004445
ATAD3A	Human	Harel-Yoon syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Harel-Yoon syndrome	ClinVar
ATAD3A	Human	Harel-Yoon syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Harel-Yoon syndrome	ClinVar	PMID:25741868
ATAD3A	Human	Harel-Yoon syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Harel-Yoon syndrome	ClinVar	PMID:25741868 and PMID:28492532
ATAD3A	Human	Harel-Yoon syndrome		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Harel-Yoon syndrome	ClinVar	PMID:25741868 and PMID:27640307
ATAD3A	Human	Harel-Yoon syndrome		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Harel-Yoon syndrome	ClinVar	PMID:27640307
ATAD3A	Human	Idiopathic Generalized Epilepsy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Idiopathic generalized epilepsy	ClinVar	PMID:28492532
ATAD3A	Human	immunodeficiency 16		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency	ClinVar	PMID:10862081 more ...
ATAD3A	Human	immunodeficiency 38		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	ClinVar	PMID:10862081 more ...
ATAD3A	Human	Joubert syndrome 25		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Joubert syndrome 25	ClinVar	PMID:10862081 more ...
ATAD3A	Human	neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pontocerebellar hypoplasia more ...	ClinVar	PMID:29053797 and PMID:29053800
ATAD3A	Human	neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Pontocerebellar hypoplasia more ...	ClinVar	PMID:25741868
ATAD3A	Human	neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Pontocerebellar hypoplasia more ...	ClinVar
ATAD3A	Human	neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pontocerebellar hypoplasia more ...	ClinVar	PMID:29053797
ATAD3A	Human	neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pontocerebellar hypoplasia more ...	ClinVar	PMID:25741868 and PMID:31727539
ATAD3A	Human	neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pontocerebellar hypoplasia more ...	ClinVar	PMID:25741868 and PMID:27640307
ATAD3A	Human	Neurodevelopmental Disorders		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868
ATAD3A	Human	Peroxisome Biogenesis Disorder, Complementation Group 7		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Peroxisome biogenesis disorder and complementation group 7	ClinVar	PMID:10862081 more ...
ATAD3A	Human	Shprintzen-Goldberg Craniosynostosis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	ClinVar	PMID:28492532
ATAD3A	Human	Shprintzen-Goldberg Craniosynostosis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	ClinVar	PMID:23892090 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ATAD3A	Human	Prostatic Neoplasms		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:21584487

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ATAD3A	Human	Harel-Yoon syndrome		IAGP		7240710		OMIM
ATAD3A	Human	neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome		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)
ATAD3A	Human	(+)-schisandrin B	multiple interactions	ISO	Atad3a (Rattus norvegicus)	6480464	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of ATAD3A mRNA]	CTD	PMID:31150632
ATAD3A	Human	(1->4)-beta-D-glucan	multiple interactions	ISO	Atad3a (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of ATAD3A mRNA	CTD	PMID:36331819
ATAD3A	Human	1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane	increases expression	ISO	Atad3a (Mus musculus)	6480464	o and p'-DDT results in increased expression of ATAD3A mRNA	CTD	PMID:24096037
ATAD3A	Human	1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane	increases expression	ISO	Atad3a (Rattus norvegicus)	6480464	o and p'-DDT results in increased expression of ATAD3A mRNA	CTD	PMID:24096037
ATAD3A	Human	1,2-dimethylhydrazine	increases expression	ISO	Atad3a (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in increased expression of ATAD3A mRNA	CTD	PMID:22206623
ATAD3A	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Atad3a (Mus musculus)	6480464	Folic Acid inhibits the reaction [1 and 2-Dimethylhydrazine results in increased expression of ATAD3A mRNA]	CTD	PMID:22206623
ATAD3A	Human	17alpha-ethynylestradiol	decreases expression	EXP		6480464	Ethinyl Estradiol results in decreased expression of ATAD3A mRNA	CTD	PMID:18936297
ATAD3A	Human	17alpha-ethynylestradiol	increases expression	ISO	Atad3a (Rattus norvegicus)	6480464	Ethinyl Estradiol results in increased expression of ATAD3A mRNA	CTD	PMID:24096037
ATAD3A	Human	17alpha-ethynylestradiol	increases expression	ISO	Atad3a (Mus musculus)	6480464	Ethinyl Estradiol results in increased expression of ATAD3A mRNA	CTD	PMID:17942748 and PMID:24096037
ATAD3A	Human	17alpha-ethynylestradiol	multiple interactions	ISO	Atad3a (Mus musculus)	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ATAD3A mRNA	CTD	PMID:17942748
ATAD3A	Human	17beta-estradiol	decreases expression	ISO	Atad3a (Rattus norvegicus)	6480464	Estradiol results in decreased expression of ATAD3A mRNA	CTD	PMID:32145629
ATAD3A	Human	17beta-estradiol	increases expression	EXP		6480464	Estradiol results in increased expression of ATAD3A mRNA	CTD	PMID:31614463
ATAD3A	Human	17beta-estradiol	increases expression	ISO	Atad3a (Mus musculus)	6480464	Estradiol results in increased expression of ATAD3A mRNA	CTD	PMID:39298647
ATAD3A	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Atad3a (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of ATAD3A mRNA	CTD	PMID:21570461
ATAD3A	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	Atad3a (Mus musculus)	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ATAD3A mRNA	CTD	PMID:17942748
ATAD3A	Human	2,4-dinitrotoluene	affects expression	ISO	Atad3a (Rattus norvegicus)	6480464	2 and 4-dinitrotoluene affects the expression of ATAD3A mRNA	CTD	PMID:21346803
ATAD3A	Human	2,6-dinitrotoluene	affects expression	ISO	Atad3a (Rattus norvegicus)	6480464	2 and 6-dinitrotoluene affects the expression of ATAD3A mRNA	CTD	PMID:21346803
ATAD3A	Human	3-chloropropane-1,2-diol	increases expression	ISO	Atad3a (Rattus norvegicus)	6480464	alpha-Chlorohydrin results in increased expression of ATAD3A protein	CTD	PMID:34915118
ATAD3A	Human	4,4'-diaminodiphenylmethane	increases expression	ISO	Atad3a (Mus musculus)	6480464	4 and 4'-diaminodiphenylmethane results in increased expression of ATAD3A mRNA	CTD	PMID:18648102
ATAD3A	Human	4,4'-sulfonyldiphenol	increases expression	ISO	Atad3a (Mus musculus)	6480464	bisphenol S results in increased expression of ATAD3A mRNA	CTD	PMID:39298647
ATAD3A	Human	4,4'-sulfonyldiphenol	increases expression	EXP		6480464	bisphenol S results in increased expression of ATAD3A protein	CTD	PMID:34186270
ATAD3A	Human	4-amino-2,6-dinitrotoluene	affects expression	ISO	Atad3a (Rattus norvegicus)	6480464	4-amino-2 and 6-dinitrotoluene affects the expression of ATAD3A mRNA	CTD	PMID:21346803
ATAD3A	Human	acrolein	multiple interactions	EXP		6480464	[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in decreased expression of ATAD3A mRNA and [Air Pollutants results in increased abundance of [Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone]] which results in decreased expression of ATAD3A mRNA	CTD	PMID:32699268
ATAD3A	Human	aflatoxin B1	increases expression	ISO	Atad3a (Mus musculus)	6480464	Aflatoxin B1 results in increased expression of ATAD3A mRNA	CTD	PMID:19770486
ATAD3A	Human	alpha-pinene	multiple interactions	EXP		6480464	[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in decreased expression of ATAD3A mRNA and [Air Pollutants results in increased abundance of [Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone]] which results in decreased expression of ATAD3A mRNA	CTD	PMID:32699268
ATAD3A	Human	arsenous acid	decreases expression	EXP		6480464	Arsenic Trioxide results in decreased expression of ATAD3A protein	CTD	PMID:25419056
ATAD3A	Human	benzo[a]pyrene	increases expression	ISO	Atad3a (Mus musculus)	6480464	Benzo(a)pyrene results in increased expression of ATAD3A mRNA	CTD	PMID:19770486
ATAD3A	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of ATAD3A 5' UTR	CTD	PMID:27901495
ATAD3A	Human	bisphenol A	increases expression	ISO	Atad3a (Rattus norvegicus)	6480464	bisphenol A results in increased expression of ATAD3A mRNA and bisphenol A results in increased expression of ATAD3A protein	CTD	PMID:24552547 more ...
ATAD3A	Human	bisphenol A	decreases expression	EXP		6480464	bisphenol A results in decreased expression of ATAD3A mRNA and bisphenol A results in decreased expression of ATAD3A protein	CTD	PMID:29275510 and PMID:34186270
ATAD3A	Human	bisphenol AF	increases expression	EXP		6480464	bisphenol AF results in increased expression of ATAD3A protein	CTD	PMID:34186270
ATAD3A	Human	bisphenol F	increases expression	EXP		6480464	bisphenol F results in increased expression of ATAD3A protein	CTD	PMID:34186270
ATAD3A	Human	caffeine	decreases phosphorylation	EXP		6480464	Caffeine results in decreased phosphorylation of ATAD3A protein	CTD	PMID:35688186
ATAD3A	Human	captan	increases expression	ISO	Atad3a (Mus musculus)	6480464	Captan results in increased expression of ATAD3A mRNA	CTD	PMID:31558096
ATAD3A	Human	carbon nanotube	decreases expression	ISO	Atad3a (Mus musculus)	6480464	Nanotubes and Carbon results in decreased expression of ATAD3A mRNA	CTD	PMID:25620056
ATAD3A	Human	carbon nanotube	increases expression	ISO	Atad3a (Mus musculus)	6480464	Nanotubes more ...	CTD	PMID:25554681
ATAD3A	Human	chromium(6+)	affects expression	ISO	Atad3a (Mus musculus)	6480464	chromium hexavalent ion affects the expression of ATAD3A mRNA	CTD	PMID:28472532
ATAD3A	Human	chromium(6+)	multiple interactions	EXP		6480464	[zinc chromate results in increased abundance of chromium hexavalent ion] which results in decreased expression of ATAD3A mRNA	CTD	PMID:38479592
ATAD3A	Human	cisplatin	decreases expression	EXP		6480464	Cisplatin results in decreased expression of ATAD3A mRNA	CTD	PMID:27392435
ATAD3A	Human	clofibrate	multiple interactions	ISO	Atad3a (Mus musculus)	6480464	[Clofibrate co-treated with Acetaminophen] affects the expression of ATAD3A mRNA and PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of ATAD3A mRNA]	CTD	PMID:17585979
ATAD3A	Human	clozapine	decreases expression	EXP		6480464	Clozapine results in decreased expression of ATAD3A protein	CTD	PMID:34122009
ATAD3A	Human	copper atom	multiple interactions	EXP		6480464	[NSC 689534 binds to Copper] which results in decreased expression of ATAD3A mRNA	CTD	PMID:20971185
ATAD3A	Human	copper(0)	multiple interactions	EXP		6480464	[NSC 689534 binds to Copper] which results in decreased expression of ATAD3A mRNA	CTD	PMID:20971185
ATAD3A	Human	copper(II) chloride	increases expression	EXP		6480464	cupric chloride results in increased expression of ATAD3A mRNA	CTD	PMID:38568856
ATAD3A	Human	crocidolite asbestos	increases expression	EXP		6480464	Asbestos and Crocidolite results in increased expression of ATAD3A mRNA	CTD	PMID:29523930
ATAD3A	Human	diarsenic trioxide	decreases expression	EXP		6480464	Arsenic Trioxide results in decreased expression of ATAD3A protein	CTD	PMID:25419056
ATAD3A	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of ATAD3A mRNA	CTD	PMID:37042841
ATAD3A	Human	diethylstilbestrol	decreases expression	EXP		6480464	Diethylstilbestrol results in decreased expression of ATAD3A mRNA	CTD	PMID:36621641
ATAD3A	Human	dioxygen	decreases expression	EXP		6480464	Oxygen deficiency results in decreased expression of ATAD3A mRNA	CTD	PMID:26516004
ATAD3A	Human	dioxygen	multiple interactions	ISO	Atad3a (Mus musculus)	6480464	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of ATAD3A mRNA	CTD	PMID:30529165
ATAD3A	Human	enzyme inhibitor	multiple interactions	EXP		6480464	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of ATAD3A protein	CTD	PMID:23301498
ATAD3A	Human	epoxiconazole	decreases expression	ISO	Atad3a (Mus musculus)	6480464	epoxiconazole results in decreased expression of ATAD3A mRNA	CTD	PMID:35436446
ATAD3A	Human	ethanol	affects expression	ISO	Atad3a (Mus musculus)	6480464	Ethanol affects the expression of ATAD3A mRNA	CTD	PMID:30319688
ATAD3A	Human	flutamide	increases expression	ISO	Atad3a (Rattus norvegicus)	6480464	Flutamide results in increased expression of ATAD3A mRNA	CTD	PMID:24136188
ATAD3A	Human	folic acid	multiple interactions	ISO	Atad3a (Mus musculus)	6480464	Folic Acid inhibits the reaction [1 and 2-Dimethylhydrazine results in increased expression of ATAD3A mRNA]	CTD	PMID:22206623
ATAD3A	Human	FR900359	increases phosphorylation	EXP		6480464	FR900359 results in increased phosphorylation of ATAD3A protein	CTD	PMID:37730182
ATAD3A	Human	genistein	decreases expression	ISO	Atad3a (Rattus norvegicus)	6480464	Genistein results in decreased expression of ATAD3A protein	CTD	PMID:24552547
ATAD3A	Human	glycidyl methacrylate	decreases expression	EXP		6480464	glycidyl methacrylate results in decreased expression of ATAD3A protein	CTD	PMID:36641056
ATAD3A	Human	hydrogen peroxide	affects expression	EXP		6480464	Hydrogen Peroxide affects the expression of ATAD3A mRNA	CTD	PMID:20044591
ATAD3A	Human	inulin	multiple interactions	ISO	Atad3a (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Inulin] results in increased expression of ATAD3A mRNA	CTD	PMID:36331819
ATAD3A	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of ATAD3A protein	CTD	PMID:32959892
ATAD3A	Human	ozone	multiple interactions	EXP		6480464	[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in decreased expression of ATAD3A mRNA more ...	CTD	PMID:32699268
ATAD3A	Human	paracetamol	multiple interactions	ISO	Atad3a (Mus musculus)	6480464	[Clofibrate co-treated with Acetaminophen] affects the expression of ATAD3A mRNA and PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of ATAD3A mRNA]	CTD	PMID:17585979
ATAD3A	Human	paraquat	increases expression	ISO	Atad3a (Rattus norvegicus)	6480464	Paraquat results in increased expression of ATAD3A mRNA	CTD	PMID:32680482
ATAD3A	Human	paraquat	increases expression	EXP		6480464	Paraquat results in increased expression of ATAD3A protein	CTD	PMID:34064677
ATAD3A	Human	pentachlorophenol	increases expression	ISO	Atad3a (Mus musculus)	6480464	Pentachlorophenol results in increased expression of ATAD3A mRNA	CTD	PMID:23892564
ATAD3A	Human	perfluorohexanesulfonic acid	multiple interactions	ISO	Atad3a (Mus musculus)	6480464	PPARA protein affects the reaction [perfluorohexanesulfonic acid results in increased expression of ATAD3A mRNA]	CTD	PMID:28558994
ATAD3A	Human	perfluorohexanesulfonic acid	decreases expression	ISO	Atad3a (Mus musculus)	6480464	perfluorohexanesulfonic acid results in decreased expression of ATAD3A mRNA	CTD	PMID:37995155
ATAD3A	Human	perfluorohexanesulfonic acid	increases expression	ISO	Atad3a (Mus musculus)	6480464	perfluorohexanesulfonic acid results in increased expression of ATAD3A mRNA	CTD	PMID:28558994
ATAD3A	Human	perfluorononanoic acid	increases expression	ISO	Atad3a (Mus musculus)	6480464	perfluoro-n-nonanoic acid results in increased expression of ATAD3A mRNA	CTD	PMID:28558994
ATAD3A	Human	perfluorooctane-1-sulfonic acid	increases expression	ISO	Atad3a (Mus musculus)	6480464	perfluorooctane sulfonic acid results in increased expression of ATAD3A mRNA	CTD	PMID:28558994
ATAD3A	Human	perfluorooctane-1-sulfonic acid	multiple interactions	ISO	Atad3a (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of ATAD3A mRNA more ...	CTD	PMID:36331819
ATAD3A	Human	perfluorooctanoic acid	increases expression	ISO	Atad3a (Mus musculus)	6480464	perfluorooctanoic acid results in increased expression of ATAD3A mRNA	CTD	PMID:28558994
ATAD3A	Human	pirinixic acid	increases expression	ISO	Atad3a (Mus musculus)	6480464	pirinixic acid results in increased expression of ATAD3A mRNA	CTD	PMID:18301758
ATAD3A	Human	pregnenolone 16alpha-carbonitrile	increases expression	ISO	Atad3a (Mus musculus)	6480464	Pregnenolone Carbonitrile results in increased expression of ATAD3A mRNA	CTD	PMID:28903501
ATAD3A	Human	SB 431542	multiple interactions	EXP		6480464	[LDN 193189 co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide co-treated with FGF2 protein] results in decreased expression of ATAD3A protein	CTD	PMID:37664457
ATAD3A	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of ATAD3A mRNA	CTD	PMID:28595984 more ...
ATAD3A	Human	tetrachloromethane	increases expression	ISO	Atad3a (Rattus norvegicus)	6480464	Carbon Tetrachloride results in increased expression of ATAD3A mRNA	CTD	PMID:31150632
ATAD3A	Human	tetrachloromethane	multiple interactions	ISO	Atad3a (Rattus norvegicus)	6480464	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of ATAD3A mRNA]	CTD	PMID:31150632
ATAD3A	Human	tetrahydropalmatine	increases expression	EXP		6480464	tetrahydropalmatine results in increased expression of ATAD3A protein	CTD	PMID:20109541
ATAD3A	Human	thioacetamide	increases expression	ISO	Atad3a (Rattus norvegicus)	6480464	Thioacetamide results in increased expression of ATAD3A mRNA	CTD	PMID:34492290
ATAD3A	Human	tolcapone	affects binding	ISO	Atad3a (Rattus norvegicus)	6480464	tolcapone binds to ATAD3A protein	CTD	PMID:19783845
ATAD3A	Human	trichloroethene	decreases expression	ISO	Atad3a (Rattus norvegicus)	6480464	Trichloroethylene results in decreased expression of ATAD3A mRNA	CTD	PMID:33387578
ATAD3A	Human	trimellitic anhydride	increases expression	ISO	Atad3a (Mus musculus)	6480464	trimellitic anhydride results in increased expression of ATAD3A mRNA	CTD	PMID:19042947
ATAD3A	Human	triptonide	decreases expression	ISO	Atad3a (Mus musculus)	6480464	triptonide results in decreased expression of ATAD3A mRNA	CTD	PMID:33045310
ATAD3A	Human	tunicamycin	increases expression	EXP		6480464	Tunicamycin results in increased expression of ATAD3A mRNA	CTD	PMID:29453283
ATAD3A	Human	urethane	decreases expression	EXP		6480464	Urethane results in decreased expression of ATAD3A mRNA	CTD	PMID:28818685
ATAD3A	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of ATAD3A mRNA	CTD	PMID:23179753
ATAD3A	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of ATAD3A mRNA	CTD	PMID:25979313
ATAD3A	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of ATAD3A gene	CTD	PMID:29154799
ATAD3A	Human	vinclozolin	decreases expression	ISO	Atad3a (Rattus norvegicus)	6480464	vinclozolin results in decreased expression of ATAD3A mRNA	CTD	PMID:23034163

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)
ATAD3A	Human	antiviral innate immune response	involved_in	IMP		150520179	PMID:31522117	UniProt	PMID:31522117
ATAD3A	Human	DNA damage response	involved_in	IDA		150520179	PMID:37832546	UniProt	PMID:37832546
ATAD3A	Human	HRI-mediated signaling	acts_upstream_of	IDA		150520179	PMID:37832546	UniProt	PMID:37832546
ATAD3A	Human	mitochondrion organization	involved_in	IMP		150520179	PMID:20154147	FlyBase	PMID:20154147
ATAD3A	Human	mitochondrion organization	involved_in	IBA	FB:FBgn0287225 more ...	150520179		GO_Central	GO_REF:0000033
ATAD3A	Human	negative regulation of apoptotic process	involved_in	IMP		150520179	PMID:20332122	UniProt	PMID:20332122
ATAD3A	Human	negative regulation of PERK-mediated unfolded protein response	involved_in	IDA		150520179	PMID:39116259	UniProt	PMID:39116259
ATAD3A	Human	regulation of cell growth	involved_in	IMP		150520179	PMID:20332122	UniProt	PMID:20332122

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)
ATAD3A	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
ATAD3A	Human	mitochondria-associated endoplasmic reticulum membrane contact site	is_active_in	IDA		150520179	PMID:39116259	UniProt	PMID:39116259
ATAD3A	Human	mitochondrial inner membrane	is_active_in	IDA		150520179	PMID:20154147	FlyBase	PMID:20154147
ATAD3A	Human	mitochondrial inner membrane	located_in	IDA		150520179	PMID:20349121	UniProt	PMID:20349121
ATAD3A	Human	mitochondrial inner membrane	located_in	IEA	UniProtKB-KW:KW-0999	150520179		UniProt	GO_REF:0000043
ATAD3A	Human	mitochondrial inner membrane	located_in	IEA	UniProtKB-SubCell:SL-0168	150520179		UniProt	GO_REF:0000044
ATAD3A	Human	mitochondrial nucleoid	located_in	IEA	UniProtKB-SubCell:SL-0269	150520179		UniProt	GO_REF:0000044
ATAD3A	Human	mitochondrial nucleoid	located_in	IEA	UniProtKB-KW:KW-1135	150520179		UniProt	GO_REF:0000043
ATAD3A	Human	mitochondrion	located_in	IEA	UniProtKB:Q925I1 and ensembl:ENSMUSP00000030903	150520179		Ensembl	GO_REF:0000107
ATAD3A	Human	mitochondrion	is_active_in	IBA	MGI:1919214 more ...	150520179		GO_Central	GO_REF:0000033
ATAD3A	Human	mitochondrion	located_in	IEA	UniProtKB-KW:KW-0496	150520179		UniProt	GO_REF:0000043
ATAD3A	Human	mitochondrion	located_in	IDA		150520179	PMID:20332122	HPA	GO_REF:0000052 and PMID:20332122
ATAD3A	Human	mitochondrion	located_in	HTP		150520179	PMID:34800366	FlyBase	PMID:34800366

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)
ATAD3A	Human	ATP binding	enables	IEA	InterPro:IPR003959	150520179		InterPro	GO_REF:0000002
ATAD3A	Human	ATP binding	enables	IMP		150520179	PMID:20154147	FlyBase	PMID:20154147
ATAD3A	Human	ATP binding	enables	IEA	UniProtKB-KW:KW-0067	150520179		UniProt	GO_REF:0000043
ATAD3A	Human	ATP hydrolysis activity	enables	IMP		150520179	PMID:20154147 and PMID:39116259	FlyBase	PMID:20154147 and PMID:39116259
ATAD3A	Human	ATP hydrolysis activity	enables	IEA	InterPro:IPR003593 and InterPro:IPR003959	150520179		InterPro	GO_REF:0000002
ATAD3A	Human	hydrolase activity	enables	IEA	UniProtKB-KW:KW-0378	150520179		UniProt	GO_REF:0000043
ATAD3A	Human	identical protein binding	enables	IPI	UniProtKB:Q9NVI7-2	150520179	PMID:30914652	IntAct	PMID:30914652
ATAD3A	Human	nucleotide binding	enables	IEA	UniProtKB-KW:KW-0547	150520179		UniProt	GO_REF:0000043
ATAD3A	Human	protein binding	enables	IPI	UniProtKB:P10809	150520179	PMID:22664726	IntAct	PMID:22664726
ATAD3A	Human	protein binding	enables	IPI	UniProtKB:O00429	150520179	PMID:30914652	IntAct	PMID:30914652
ATAD3A	Human	protein binding	enables	IPI	UniProtKB:Q9H078	150520179	PMID:31522117	UniProt	PMID:31522117
ATAD3A	Human	protein serine/threonine kinase inhibitor activity	enables	IDA		150520179	PMID:39116259	UniProt	PMID:39116259

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ATAD3A	Human	3-Methylglutaconic aciduria		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Anteverted nares		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Ataxia		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Autosomal dominant inheritance		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Axial hypotonia		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Axial hypotonia		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Brittle hair		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Cataract		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Cerebellar atrophy		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Cerebellar atrophy		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Cerebellar hypoplasia		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Corneal opacity		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Corneal opacity		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Cryptorchidism		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Deeply set eye		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Deeply set eye		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Delayed puberty		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Delayed speech and language development		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Developmental cataract		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Developmental cataract		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Distal amyotrophy		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Dysplastic corpus callosum		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Dystonia		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Encephalopathy		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Esotropia		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Esotropia		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Feeding difficulties		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Feeding difficulties		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Feeding difficulties in infancy		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Fetal distress		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Frontal bossing		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Gait ataxia		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Generalized non-motor (absence) seizure		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Global developmental delay		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Global developmental delay		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Global developmental delay		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Hepatomegaly		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	High forehead		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	High forehead		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Hip dysplasia		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Hip dysplasia		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Hydrocele testis		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Hypertrophic cardiomyopathy		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Hypertrophic cardiomyopathy		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Hypertrophic cardiomyopathy		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Hypocholesterolemia		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Hypotonia		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Hypotonia		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Inability to walk		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Increased circulating lactate concentration		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Increased circulating lactate concentration		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Increased circulating lactate concentration		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Infantile onset		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Intellectual disability		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Intellectual disability		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Long face		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Long face		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Lower limb amyotrophy		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Mandibular prognathia		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Mandibular prognathia		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Micrognathia		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Micrognathia		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Micrognathia		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Micropenis		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Myopia		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Myopia		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Narrow mouth		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Neonatal death		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Nystagmus		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Nystagmus		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Optic atrophy		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Optic atrophy		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Optic nerve hypoplasia		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Pectus carinatum		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Pectus carinatum		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Peripheral axonal neuropathy		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Peripheral axonal neuropathy		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Peripheral axonal neuropathy		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Polyhydramnios		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Poor speech		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Positional foot deformity		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Reduced brain N-acetyl aspartate level by MRS		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Scoliosis		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Scoliosis		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Seizure		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Seizure		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Short nose		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Short nose		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Sleep abnormality		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Sparse eyebrow		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Spastic gait		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Spasticity		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Spasticity		IAGP		8699517		HPO	MIM:618810
ATAD3A	Human	Spasticity		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Talipes equinovalgus		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Upslanted palpebral fissure		IAGP		8699517		HPO	ORPHA:496790
ATAD3A	Human	Upslanted palpebral fissure		IAGP		8699517		HPO	MIM:617183
ATAD3A	Human	Wide nasal bridge		IAGP		8699517		HPO	MIM:618810

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
ATAD3A	Human	Cerebellar hypoplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Underdeveloped cerebellum	ClinVar	PMID:25741868 and PMID:31727539
ATAD3A	Human	Generalized-onset seizure		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Generalised epilepsy	ClinVar
ATAD3A	Human	Generalized-onset seizure		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Generalised epilepsy	ClinVar
ATAD3A	Human	Generalized-onset seizure		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Generalised epilepsy	ClinVar	PMID:28492532

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
3.	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.	Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.

PMID:14702039	PMID:15489334	PMID:16055720	PMID:16344560	PMID:16710414	PMID:16909202	PMID:17110338	PMID:17148452	PMID:17210950	PMID:17353931	PMID:18063578	PMID:18639545
PMID:19041431	PMID:19156129	PMID:19531213	PMID:19664342	PMID:19738201	PMID:19740762	PMID:20154147	PMID:20301682	PMID:20332122	PMID:20349121	PMID:20351179	PMID:20360068
PMID:20473970	PMID:20877624	PMID:20890123	PMID:21145461	PMID:21182205	PMID:21584487	PMID:21743956	PMID:21873635	PMID:21907836	PMID:22190034	PMID:22192748	PMID:22268729
PMID:22318359	PMID:22542587	PMID:22586326	PMID:22623428	PMID:22664726	PMID:22810586	PMID:23182705	PMID:23443559	PMID:23455922	PMID:24057885	PMID:24189400	PMID:24239551
PMID:24244333	PMID:24366813	PMID:24457600	PMID:24550385	PMID:24639526	PMID:24711643	PMID:25315684	PMID:25375035	PMID:25544563	PMID:25796446	PMID:25823022	PMID:25852190
PMID:25921289	PMID:25963833	PMID:26209609	PMID:26344197	PMID:26460568	PMID:26471122	PMID:26472760	PMID:26496610	PMID:26549023	PMID:26618866	PMID:26638075	PMID:26760575
PMID:26777405	PMID:26839216	PMID:26949251	PMID:26972000	PMID:27025967	PMID:27320910	PMID:27499296	PMID:27503909	PMID:27545878	PMID:27591049	PMID:27609421	PMID:27640307
PMID:27684187	PMID:27705803	PMID:28031328	PMID:28158749	PMID:28330616	PMID:28416769	PMID:28515276	PMID:28549128	PMID:28611215	PMID:28675297	PMID:28869606	PMID:28902428
PMID:28977666	PMID:29117863	PMID:29128334	PMID:29229926	PMID:29298432	PMID:29331416	PMID:29378950	PMID:29420262	PMID:29467282	PMID:29478914	PMID:29507755	PMID:29511296
PMID:29568061	PMID:29599191	PMID:29615496	PMID:29845934	PMID:29991511	PMID:30274258	PMID:30425250	PMID:30462309	PMID:30463901	PMID:30581152	PMID:30619736	PMID:30804502
PMID:30809309	PMID:30833792	PMID:30890647	PMID:30914652	PMID:30940648	PMID:30948266	PMID:30997501	PMID:31048545	PMID:31056421	PMID:31067453	PMID:31073040	PMID:31091453
PMID:31180492	PMID:31280863	PMID:31300519	PMID:31340145	PMID:31343991	PMID:31409639	PMID:31501420	PMID:31522117	PMID:31586073	PMID:31617661	PMID:31620119	PMID:31727539
PMID:31732153	PMID:31822558	PMID:31839598	PMID:31871319	PMID:31980649	PMID:32004445	PMID:32129710	PMID:32219745	PMID:32683582	PMID:32687490	PMID:32694731	PMID:32780723
PMID:32807901	PMID:32877691	PMID:32933822	PMID:32994395	PMID:33022573	PMID:33087821	PMID:33113782	PMID:33141564	PMID:33144569	PMID:33239621	PMID:33280610	PMID:33462405
PMID:33567341	PMID:33580514	PMID:33644029	PMID:33711283	PMID:33729478	PMID:33731348	PMID:33845882	PMID:33957083	PMID:33961781	PMID:34079125	PMID:34244482	PMID:34349018
PMID:34387651	PMID:34610959	PMID:34687317	PMID:34709727	PMID:34732716	PMID:34798798	PMID:34800366	PMID:34901782	PMID:34936866	PMID:34943047	PMID:35013218	PMID:35140242
PMID:35182466	PMID:35235311	PMID:35271311	PMID:35338135	PMID:35384245	PMID:35439318	PMID:35509820	PMID:35545034	PMID:35545047	PMID:35563538	PMID:35575683	PMID:35652658
PMID:35676246	PMID:35676659	PMID:35777956	PMID:35803934	PMID:35819319	PMID:35833506	PMID:35850772	PMID:35941108	PMID:35944360	PMID:36030824	PMID:36057605	PMID:36114006
PMID:36123327	PMID:36168627	PMID:36180527	PMID:36180891	PMID:36215168	PMID:36282215	PMID:36289190	PMID:36373674	PMID:36376293	PMID:36398662	PMID:36526897	PMID:36627348
PMID:36779763	PMID:36849460	PMID:36912080	PMID:36929488	PMID:37052853	PMID:37071682	PMID:37095554	PMID:37117185	PMID:37120454	PMID:37167062	PMID:37223481	PMID:37249651
PMID:37267103	PMID:37279268	PMID:37314216	PMID:37317656	PMID:37616343	PMID:37667382	PMID:37768083	PMID:37827155	PMID:37832546	PMID:37929963	PMID:37931956	PMID:38018291
PMID:38050826	PMID:38092275	PMID:38113892	PMID:38172120	PMID:38334954	PMID:38697112	PMID:39116259	PMID:39147351	PMID:39231216	PMID:39501047

ATAD3A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	1,512,162 - 1,534,685 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	1,512,162 - 1,534,685 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	1,447,542 - 1,470,065 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	1,437,418 - 1,459,927 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	1,532,821 - 1,555,331	NCBI
Celera	1	1,110,376 - 1,132,920 (-)	NCBI		Celera
Cytogenetic Map	1	p36.33	NCBI
HuRef	1	720,811 - 743,664 (+)	NCBI		HuRef
CHM1_1	1	1,434,817 - 1,457,345 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	946,666 - 969,189 (+)	NCBI		T2T-CHM13v2.0

Atad3a
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	155,825,097 - 155,845,579 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	155,825,098 - 155,845,550 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	155,740,640 - 155,761,124 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	155,740,641 - 155,761,093 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	155,114,749 - 155,135,207 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	154,584,441 - 154,604,893 (-)	NCBI		MGSCv36	mm8
Celera	4	158,012,406 - 158,032,870 (-)	NCBI		Celera
Cytogenetic Map	4	E2	NCBI
cM Map	4	87.2	NCBI

Atad3a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	171,632,545 - 171,652,725 (-)	NCBI		GRCr8
mRatBN7.2	5	166,350,302 - 166,370,492 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	166,350,304 - 166,370,482 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	169,055,281 - 169,075,423 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	170,876,707 - 170,896,849 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	170,839,246 - 170,859,388 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	173,189,590 - 173,209,809 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	173,189,592 - 173,209,768 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	176,665,200 - 176,685,381 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	172,598,553 - 172,618,731 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	172,609,041 - 172,629,268 (-)	NCBI
Celera	5	164,550,758 - 164,570,936 (-)	NCBI		Celera
Cytogenetic Map	5	q36	NCBI

ATAD3A
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	56,587,385 - 56,613,475 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	56,587,428 - 56,612,746 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	56,663,522 - 56,689,500 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	56,789,609 - 56,815,653 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	56,789,621 - 56,815,650 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	56,780,163 - 56,806,214 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	56,672,427 - 56,698,586 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	57,062,790 - 57,088,831 (+)	NCBI		UU_Cfam_GSD_1.0

LOC100525876
(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	63,701,460 - 63,721,573 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	63,706,155 - 63,721,574 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	58,310,001 - 58,325,278 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ATAD3A
(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	20	129,965,964 - 129,987,866 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666054	34,429,209 - 34,452,701 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants in ATAD3A
312 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001170535.3(ATAD3A):c.750G>A (p.Thr250=)	single nucleotide variant	Harel-Yoon syndrome [RCV004783802]\|Inborn genetic diseases [RCV002525248]\|not provided [RCV000521220]	Chr1:1520617 [GRCh38] Chr1:1455997 [GRCh37] Chr1:1p36.33	likely pathogenic\|uncertain significance
NM_001170535.3(ATAD3A):c.1700AGA[1] (p.Lys568del)	microsatellite	Harel-Yoon syndrome [RCV001293247]	Chr1:1534011..1534013 [GRCh38] Chr1:1469391..1469393 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.251C>T (p.Thr84Met)	single nucleotide variant	not provided [RCV000519405]	Chr1:1516057 [GRCh38] Chr1:1451437 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.634C>T (p.Arg212Cys)	single nucleotide variant	not provided [RCV000523197]	Chr1:1520260 [GRCh38] Chr1:1455640 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.658C>T (p.Gln220Ter)	single nucleotide variant	not provided [RCV000518892]	Chr1:1520284 [GRCh38] Chr1:1455664 [GRCh37] Chr1:1p36.33	likely pathogenic\|uncertain significance
GRCh37/hg19 1q21.2(chr1:149041013-149699420)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050339]\|See cases [RCV000050339]	Chr1:149041013..149699420 [GRCh37] Chr1:1q21.2	benign
GRCh38/hg38 1p36.33-36.32(chr1:844347-3006252)x1	copy number loss	See cases [RCV000050857]	Chr1:844347..3006252 [GRCh38] Chr1:779727..2922816 [GRCh37] Chr1:769590..2912676 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3712147)x1	copy number loss	See cases [RCV000050882]	Chr1:844347..3712147 [GRCh38] Chr1:779727..3628711 [GRCh37] Chr1:769590..3618571 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5682587)x1	copy number loss	See cases [RCV000050642]	Chr1:844347..5682587 [GRCh38] Chr1:779727..5742647 [GRCh37] Chr1:769590..5665234 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-3319395)x1	copy number loss	See cases [RCV000050647]	Chr1:844347..3319395 [GRCh38] Chr1:779727..3235959 [GRCh37] Chr1:769590..3225819 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	copy number loss	See cases [RCV000050752]	Chr1:844347..2627474 [GRCh38] Chr1:779727..2558913 [GRCh37] Chr1:769590..2548773 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	copy number loss	See cases [RCV000051143]	Chr1:844347..6477436 [GRCh38] Chr1:779727..6537496 [GRCh37] Chr1:769590..6460083 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:792758-5006311)x3	copy number gain	See cases [RCV000051779]	Chr1:792758..5006311 [GRCh38] Chr1:728138..5066371 [GRCh37] Chr1:718001..4966231 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	copy number gain	See cases [RCV000051780]	Chr1:826553..4719105 [GRCh38] Chr1:761933..4779165 [GRCh37] Chr1:751796..4679025 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6231924)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051782]\|See cases [RCV000051782]	Chr1:844347..6231924 [GRCh38] Chr1:779727..6291984 [GRCh37] Chr1:769590..6214571 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33(chr1:844347-2131805)x1	copy number loss	See cases [RCV000052043]	Chr1:844347..2131805 [GRCh38] Chr1:779727..2063244 [GRCh37] Chr1:769590..2053104 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:845437-2523513)x1	copy number loss	See cases [RCV000052044]	Chr1:845437..2523513 [GRCh38] Chr1:780817..2454952 [GRCh37] Chr1:770680..2444812 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	copy number loss	See cases [RCV000052045]	Chr1:859215..8747647 [GRCh38] Chr1:794595..8807706 [GRCh37] Chr1:784458..8730293 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:870177-4426613)x1	copy number loss	See cases [RCV000052063]	Chr1:870177..4426613 [GRCh38] Chr1:805557..4486673 [GRCh37] Chr1:795420..4386533 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:872305-2047715)x1	copy number loss	See cases [RCV000052064]	Chr1:872305..2047715 [GRCh38] Chr1:807685..1979154 [GRCh37] Chr1:797548..1969014 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-3054463)x1	copy number loss	See cases [RCV000052065]	Chr1:872305..3054463 [GRCh38] Chr1:807685..2971027 [GRCh37] Chr1:797548..2960887 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-4133409)x1	copy number loss	See cases [RCV000052066]	Chr1:872305..4133409 [GRCh38] Chr1:807685..4193469 [GRCh37] Chr1:797548..4093329 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x3	copy number gain	See cases [RCV000052067]	Chr1:872305..2642603 [GRCh38] Chr1:807685..2574042 [GRCh37] Chr1:797548..2563902 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	copy number loss	See cases [RCV000051993]	Chr1:629025..8537745 [GRCh38] Chr1:564405..8597804 [GRCh37] Chr1:554268..8520391 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:872305-2642603)x1	copy number loss	See cases [RCV000052068]	Chr1:872305..2642603 [GRCh38] Chr1:807685..2574042 [GRCh37] Chr1:797548..2563902 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1084373-3367776)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052069]\|See cases [RCV000052069]	Chr1:1084373..3367776 [GRCh38] Chr1:1019753..3284340 [GRCh37] Chr1:1009616..3274200 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:629044-3346226)x1	copy number loss	See cases [RCV000051994]	Chr1:629044..3346226 [GRCh38] Chr1:564424..3262790 [GRCh37] Chr1:554287..3252650 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	copy number loss	See cases [RCV000051995]	Chr1:629044..7008678 [GRCh38] Chr1:564424..7068738 [GRCh37] Chr1:554287..6991325 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:1181847-5507243)x1	copy number loss	See cases [RCV000052070]	Chr1:1181847..5507243 [GRCh38] Chr1:1117227..5567303 [GRCh37] Chr1:1107090..5489890 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1482278-3152536)x1	copy number loss	See cases [RCV000052071]	Chr1:1482278..3152536 [GRCh38] Chr1:1417658..3069100 [GRCh37] Chr1:1407521..3058960 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4155674)x1	copy number loss	See cases [RCV000051996]	Chr1:821713..4155674 [GRCh38] Chr1:757093..4215734 [GRCh37] Chr1:746956..4115594 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5970026)x1	copy number loss	See cases [RCV000052014]	Chr1:844147..5970026 [GRCh38] Chr1:779527..6030086 [GRCh37] Chr1:769390..5952673 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844147-5827203)x1	copy number loss	See cases [RCV000052015]	Chr1:844147..5827203 [GRCh38] Chr1:779527..5887263 [GRCh37] Chr1:769390..5809850 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-2963530)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052016]\|See cases [RCV000052016]	Chr1:844147..2963530 [GRCh38] Chr1:779527..2880095 [GRCh37] Chr1:769390..2869955 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-4598532)x1	copy number loss	See cases [RCV000052017]	Chr1:844147..4598532 [GRCh38] Chr1:779527..4658592 [GRCh37] Chr1:769390..4558452 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844147-5020772)x1	copy number loss	See cases [RCV000052018]	Chr1:844147..5020772 [GRCh38] Chr1:779527..5080832 [GRCh37] Chr1:769390..4980692 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5363885)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052037]\|See cases [RCV000052037]	Chr1:844347..5363885 [GRCh38] Chr1:779727..5423945 [GRCh37] Chr1:769590..5323805 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-10809098)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052038]\|See cases [RCV000052038]	Chr1:844347..10809098 [GRCh38] Chr1:779727..10869155 [GRCh37] Chr1:769590..10791742 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-5431639)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052039]\|See cases [RCV000052039]	Chr1:844347..5431639 [GRCh38] Chr1:779727..5491699 [GRCh37] Chr1:769590..5414286 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4665295)x1	copy number loss	See cases [RCV000052040]	Chr1:844347..4665295 [GRCh38] Chr1:779727..4725355 [GRCh37] Chr1:769590..4625215 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:844347-2014739)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052041]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052041]\|See cases [RCV000052041]	Chr1:844347..2014739 [GRCh38] Chr1:779727..1946178 [GRCh37] Chr1:769590..1936038 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7151129)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052042]\|See cases [RCV000052042]	Chr1:844347..7151129 [GRCh38] Chr1:779727..7211189 [GRCh37] Chr1:769590..7133776 [NCBI36] Chr1:1p36.33-36.23	pathogenic
NM_001170535.1(ATAD3A):c.1640G>A (p.Gly547Glu)	single nucleotide variant	Malignant melanoma [RCV000059865]	Chr1:1533951 [GRCh38] Chr1:1469331 [GRCh37] Chr1:1459194 [NCBI36] Chr1:1p36.33	not provided
NM_001170535.3(ATAD3A):c.601_604delinsGGGA (p.Arg201_Glu202delinsGlyLys)	indel	not provided [RCV002287943]	Chr1:1520227..1520230 [GRCh38] Chr1:1455607..1455610 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.508C>T (p.Arg170Trp)	single nucleotide variant	Harel-Yoon syndrome [RCV001293242]	Chr1:1518984 [GRCh38] Chr1:1454364 [GRCh37] Chr1:1p36.33	uncertain significance
Single allele	deletion	Harel-Yoon syndrome [RCV001293248]	Chr1:1394541..1459777 [GRCh37] Chr1:1p36.33	pathogenic
Single allele	deletion	Harel-Yoon syndrome [RCV001293250]	Chr1:1416369..1454260 [GRCh37] Chr1:1p36.33	pathogenic
NM_001170535.3(ATAD3A):c.707G>T (p.Gly236Val)	single nucleotide variant	Harel-Yoon syndrome [RCV001293243]	Chr1:1520574 [GRCh38] Chr1:1455954 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:911300-3614487)x3	copy number gain	See cases [RCV000133658]	Chr1:911300..3614487 [GRCh38] Chr1:846680..3531051 [GRCh37] Chr1:836543..3520911 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:1013081-1722599)x1	copy number loss	See cases [RCV000134145]	Chr1:1013081..1722599 [GRCh38] Chr1:948461..1654038 [GRCh37] Chr1:938324..1643898 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1118636-4179080)x1	copy number loss	See cases [RCV000134211]	Chr1:1118636..4179080 [GRCh38] Chr1:1054016..4239140 [GRCh37] Chr1:1043879..4139000 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3487877)x1	copy number loss	See cases [RCV000134747]	Chr1:844353..3487877 [GRCh38] Chr1:779733..3404441 [GRCh37] Chr1:769596..3394301 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-5827192)x3	copy number gain	See cases [RCV000134750]	Chr1:844353..5827192 [GRCh38] Chr1:779733..5887252 [GRCh37] Chr1:769596..5809839 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	copy number loss	See cases [RCV000133943]	Chr1:844347..6916587 [GRCh38] Chr1:779727..6976647 [GRCh37] Chr1:769590..6899234 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-4398122)x1	copy number loss	See cases [RCV000134137]	Chr1:844347..4398122 [GRCh38] Chr1:779727..4458182 [GRCh37] Chr1:769590..4358042 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-2420916)x1	copy number loss	See cases [RCV000134055]	Chr1:844353..2420916 [GRCh38] Chr1:779733..2352355 [GRCh37] Chr1:769596..2342215 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:932163-1792271)x4	copy number gain	See cases [RCV000134939]	Chr1:932163..1792271 [GRCh38] Chr1:867543..1723710 [GRCh37] Chr1:857406..1713570 [NCBI36] Chr1:1p36.33	likely benign
GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	copy number loss	See cases [RCV000136554]	Chr1:844347..8171914 [GRCh38] Chr1:779727..8231974 [GRCh37] Chr1:769590..8154561 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	copy number loss	See cases [RCV000136715]	Chr1:874379..4973261 [GRCh38] Chr1:809759..5033321 [GRCh37] Chr1:799622..4933181 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	copy number loss	See cases [RCV000136695]	Chr1:844347..12470133 [GRCh38] Chr1:779727..12530188 [GRCh37] Chr1:769590..12452775 [NCBI36] Chr1:1p36.33-36.22	pathogenic\|likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1022094-4665295)x1	copy number loss	See cases [RCV000137380]	Chr1:1022094..4665295 [GRCh38] Chr1:957474..4725355 [GRCh37] Chr1:947337..4625215 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3569891)x1	copy number loss	See cases [RCV000138225]	Chr1:821713..3569891 [GRCh38] Chr1:757093..3486455 [GRCh37] Chr1:746956..3476315 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3928354)x3	copy number gain	See cases [RCV000138165]	Chr1:821713..3928354 [GRCh38] Chr1:757093..3823583 [GRCh37] Chr1:746956..3834778 [NCBI36] Chr1:1p36.33-36.32	likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x1	copy number loss	See cases [RCV000137890]	Chr1:821713..2463016 [GRCh38] Chr1:757093..2394455 [GRCh37] Chr1:746956..2384315 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2463016)x4	copy number gain	See cases [RCV000137894]	Chr1:821713..2463016 [GRCh38] Chr1:757093..2394455 [GRCh37] Chr1:746956..2384315 [NCBI36] Chr1:1p36.33-36.32	uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:821713-5239643)x1	copy number loss	See cases [RCV000137978]	Chr1:821713..5239643 [GRCh38] Chr1:757093..5299703 [GRCh37] Chr1:746956..5199563 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844353-3153909)x1	copy number loss	See cases [RCV000138704]	Chr1:844353..3153909 [GRCh38] Chr1:779733..3070473 [GRCh37] Chr1:769596..3060333 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1072906-2806838)x1	copy number loss	See cases [RCV000138883]	Chr1:1072906..2806838 [GRCh38] Chr1:1008286..2723403 [GRCh37] Chr1:998149..2713263 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	copy number loss	See cases [RCV000139404]	Chr1:844353..6477474 [GRCh38] Chr1:779733..6537534 [GRCh37] Chr1:769596..6460121 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	copy number loss	See cases [RCV000138896]	Chr1:821713..7000838 [GRCh38] Chr1:757093..7060898 [GRCh37] Chr1:746956..6983485 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:778698-4898439)x1	copy number loss	See cases [RCV000140164]	Chr1:778698..4898439 [GRCh38] Chr1:714078..4958499 [GRCh37] Chr1:703941..4858359 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2554047)x1	copy number loss	See cases [RCV000139876]	Chr1:821713..2554047 [GRCh38] Chr1:757093..2485486 [GRCh37] Chr1:746956..2479281 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-3438208)x1	copy number loss	See cases [RCV000139780]	Chr1:821713..3438208 [GRCh38] Chr1:757093..3354772 [GRCh37] Chr1:746956..3344632 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1330915-3743546)x3	copy number gain	See cases [RCV000139659]	Chr1:1330915..3743546 [GRCh38] Chr1:1266295..3660110 [GRCh37] Chr1:1256158..3649970 [NCBI36] Chr1:1p36.33-36.32	uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:821713-2636393)x1	copy number loss	See cases [RCV000141208]	Chr1:821713..2636393 [GRCh38] Chr1:757093..2567832 [GRCh37] Chr1:746956..2557692 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-5099990)x1	copy number loss	See cases [RCV000141318]	Chr1:821713..5099990 [GRCh38] Chr1:757093..5160050 [GRCh37] Chr1:746956..5059910 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-2976123)x1	copy number loss	See cases [RCV000141227]	Chr1:821713..2976123 [GRCh38] Chr1:757093..2892687 [GRCh37] Chr1:746956..2882547 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:821713-4225085)x1	copy number loss	See cases [RCV000141356]	Chr1:821713..4225085 [GRCh38] Chr1:757093..4285145 [GRCh37] Chr1:746956..4185005 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.31(chr1:821713-5480263)x1	copy number loss	See cases [RCV000140709]	Chr1:821713..5480263 [GRCh38] Chr1:757093..5540323 [GRCh37] Chr1:746956..5462910 [NCBI36] Chr1:1p36.33-36.31	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-2465738)x1	copy number loss	See cases [RCV000140892]	Chr1:914086..2465738 [GRCh38] Chr1:849466..2397177 [GRCh37] Chr1:839329..2387037 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3305463)x1	copy number loss	See cases [RCV000140894]	Chr1:914086..3305463 [GRCh38] Chr1:849466..3222027 [GRCh37] Chr1:839329..3211887 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	copy number loss	See cases [RCV000141970]	Chr1:914086..9567122 [GRCh38] Chr1:849466..9627180 [GRCh37] Chr1:839329..9549767 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	copy number loss	See cases [RCV000141577]	Chr1:902111..9556305 [GRCh38] Chr1:837491..9616363 [GRCh37] Chr1:827354..9538950 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:914086-3587042)x1	copy number loss	See cases [RCV000141668]	Chr1:914086..3587042 [GRCh38] Chr1:849466..3503606 [GRCh37] Chr1:839329..3493466 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh38/hg38 1p36.33(chr1:914086-1538895)x1	copy number loss	See cases [RCV000142178]	Chr1:914086..1538895 [GRCh38] Chr1:849466..1474275 [GRCh37] Chr1:839329..1464138 [NCBI36] Chr1:1p36.33	likely pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:1515661-2349832)x3	copy number gain	See cases [RCV000142749]	Chr1:1515661..2349832 [GRCh38] Chr1:1451041..2281271 [GRCh37] Chr1:1440904..2271131 [NCBI36] Chr1:1p36.33-36.32	likely pathogenic\|uncertain significance
GRCh38/hg38 1p36.33-36.32(chr1:911300-2963389)x1	copy number loss	See cases [RCV000142754]	Chr1:911300..2963389 [GRCh38] Chr1:846680..2879954 [GRCh37] Chr1:836543..2869814 [NCBI36] Chr1:1p36.33-36.32	pathogenic\|likely pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	copy number loss	See cases [RCV000142651]	Chr1:898721..7811306 [GRCh38] Chr1:834101..7871366 [GRCh37] Chr1:823964..7793953 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	copy number loss	See cases [RCV000142615]	Chr1:911300..9329925 [GRCh38] Chr1:846680..9389984 [GRCh37] Chr1:836543..9312571 [NCBI36] Chr1:1p36.33-36.22	pathogenic
GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	copy number loss	See cases [RCV000142709]	Chr1:844347..7870545 [GRCh38] Chr1:779727..7930605 [GRCh37] Chr1:769590..7853192 [NCBI36] Chr1:1p36.33-36.23	pathogenic
GRCh38/hg38 1p36.33(chr1:914086-1613769)x1	copy number loss	See cases [RCV000143224]	Chr1:914086..1613769 [GRCh38] Chr1:849466..1549149 [GRCh37] Chr1:839329..1539012 [NCBI36] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	copy number loss	See cases [RCV000148161]	Chr1:844347..2627474 [GRCh38] Chr1:779727..2558913 [GRCh37] Chr1:769590..2548773 [NCBI36] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-2577794)x1	copy number loss	See cases [RCV000240189]	Chr1:874455..2577794 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:1309373-2043694)x4	copy number gain	See cases [RCV000239796]	Chr1:1309373..2043694 [GRCh37] Chr1:1p36.33	likely pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	copy number loss	not provided [RCV002473951]	Chr1:849467..12448956 [GRCh37] Chr1:1p36.33-36.22	pathogenic
Single allele	complex	Breast ductal adenocarcinoma [RCV000207058]	Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11	uncertain significance
chr1:909238-16736132 complex variant	complex	Breast ductal adenocarcinoma [RCV000207094]	Chr1:909238..16736132 [GRCh37] Chr1:1p36.33-36.13	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	copy number loss	See cases [RCV000239416]	Chr1:82154..12699337 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	copy number loss	See cases [RCV000240403]	Chr1:746608..15077159 [GRCh37] Chr1:1p36.33-36.21	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:874455-3177921)x1	copy number loss	See cases [RCV000240333]	Chr1:874455..3177921 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:852863-4203509)x3	copy number gain	Distal trisomy 1p36 [RCV000519759]	Chr1:852863..4203509 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_001170535.3(ATAD3A):c.1736G>C (p.Arg579Pro)	single nucleotide variant	Inborn genetic diseases [RCV003245260]	Chr1:1534047 [GRCh38] Chr1:1469427 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.980G>T (p.Arg327Leu)	single nucleotide variant	Inborn genetic diseases [RCV004039355]\|not provided [RCV001567961]	Chr1:1523855 [GRCh38] Chr1:1459235 [GRCh37] Chr1:1p36.33	uncertain significance
Single allele	deletion	not provided [RCV000488894]	Chr1:1417192..1454542 [GRCh37] Chr1:1p36.33	pathogenic
Single allele	deletion	not provided [RCV000488906]	Chr1:1392247..1459379 [GRCh37] Chr1:1p36.33	pathogenic
NM_001170535.3(ATAD3A):c.1693C>T (p.His565Tyr)	single nucleotide variant	Harel-Yoon syndrome [RCV000626097]\|Inborn genetic diseases [RCV002529773]\|not provided [RCV003411479]	Chr1:1534004 [GRCh38] Chr1:1469384 [GRCh37] Chr1:1p36.33	pathogenic\|likely benign\|uncertain significance
NM_001170535.3(ATAD3A):c.721G>C (p.Val241Leu)	single nucleotide variant	not provided [RCV000522935]	Chr1:1520588 [GRCh38] Chr1:1455968 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.283-3C>T	single nucleotide variant	not provided [RCV000579010]	Chr1:1517308 [GRCh38] Chr1:1452688 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.177_189del (p.Lys60fs)	deletion	not provided [RCV000598884]	Chr1:1512442..1512454 [GRCh38] Chr1:1447822..1447834 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.283-60del	deletion	Harel-Yoon syndrome [RCV000723303]\|Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV003989590]	Chr1:1517251 [GRCh38] Chr1:1452631 [GRCh37] Chr1:1p36.33	pathogenic\|likely pathogenic
NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp)	single nucleotide variant	Harel-Yoon syndrome [RCV000412539]\|not provided [RCV000488909]	Chr1:1529299 [GRCh38] Chr1:1464679 [GRCh37] Chr1:1p36.33	pathogenic\|likely pathogenic
NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile)	single nucleotide variant	Harel-Yoon syndrome [RCV000412620]\|Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV003992236]\|not provided [RCV000584950]\|not specified [RCV000488882]	Chr1:1512426 [GRCh38] Chr1:1447806 [GRCh37] Chr1:1p36.33	pathogenic\|likely pathogenic\|uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-3396845)x3	copy number gain	See cases [RCV000449132]	Chr1:849466..3396845 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6566086)x1	copy number loss	See cases [RCV000449148]	Chr1:849466..6566086 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5318552)x1	copy number loss	See cases [RCV000449322]	Chr1:849466..5318552 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-9683808)x1	copy number loss	See cases [RCV000446331]	Chr1:849466..9683808 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:19225-4401691)x3	copy number gain	See cases [RCV000447000]	Chr1:19225..4401691 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:1417977-1451373)x1	copy number loss	See cases [RCV000446251]	Chr1:1417977..1451373 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33-36.32(chr1:849466-4099471)x1	copy number loss	See cases [RCV000446544]	Chr1:849466..4099471 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:564424-3582058)x1	copy number loss	See cases [RCV000447515]	Chr1:564424..3582058 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-5707515)x1	copy number loss	See cases [RCV000448903]	Chr1:849466..5707515 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33(chr1:1403417-1462949)x3	copy number gain	See cases [RCV000448737]	Chr1:1403417..1462949 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33-36.23(chr1:849466-7300178)x1	copy number loss	See cases [RCV000448061]	Chr1:849466..7300178 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:849466-6374209)x1	copy number loss	See cases [RCV000512052]	Chr1:849466..6374209 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4048535)x1	copy number loss	See cases [RCV000510640]	Chr1:849466..4048535 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1663402)x3	copy number gain	See cases [RCV000510511]	Chr1:849466..1663402 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_001170535.3(ATAD3A):c.229C>G (p.Leu77Val)	single nucleotide variant	Harel-Yoon syndrome [RCV001249364]\|Harel-Yoon syndrome [RCV002489219]\|Inborn genetic diseases [RCV004023340]\|not provided [RCV000498349]	Chr1:1516035 [GRCh38] Chr1:1451415 [GRCh37] Chr1:1p36.33	conflicting interpretations of pathogenicity\|uncertain significance\|not provided
GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1	copy number loss	See cases [RCV000510494]	Chr1:849466..6505278 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2607016)x1	copy number loss	See cases [RCV000511408]	Chr1:849466..2607016 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2330338)x1	copy number loss	See cases [RCV000512029]	Chr1:849466..2330338 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1	copy number loss	See cases [RCV000511381]	Chr1:849466..7637060 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2748837)x1	copy number loss	See cases [RCV000511834]	Chr1:849466..2748837 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1415800-5007235)x1	copy number loss	See cases [RCV000511946]	Chr1:1415800..5007235 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2554275)x1	copy number loss	See cases [RCV000510858]	Chr1:849466..2554275 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_001170535.3(ATAD3A):c.941C>T (p.Ala314Val)	single nucleotide variant	not provided [RCV003314831]	Chr1:1523545 [GRCh38] Chr1:1458925 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140)	copy number loss	Primary dilated cardiomyopathy [RCV000626523]	Chr1:834101..6076140 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1	copy number loss	See cases [RCV000512568]	Chr1:849466..8901938 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-5352492)x1	copy number loss	See cases [RCV000512243]	Chr1:849466..5352492 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:849466-2240632)x1	copy number loss	not provided [RCV000684532]	Chr1:849466..2240632 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4262915)x1	copy number loss	not provided [RCV000684533]	Chr1:849466..4262915 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1	copy number loss	not provided [RCV000684534]	Chr1:849466..7305595 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33(chr1:1129318-2040693)x1	copy number loss	not provided [RCV000684535]	Chr1:1129318..2040693 [GRCh37] Chr1:1p36.33	likely pathogenic
NC_000001.10:g.(?_1249188)_(1961741_?)del	deletion	Idiopathic generalized epilepsy [RCV000707855]	Chr1:1249188..1961741 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.817C>A (p.Arg273Ser)	single nucleotide variant	Harel-Yoon syndrome [RCV000714870]	Chr1:1522810 [GRCh38] Chr1:1458190 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.*94G>A	single nucleotide variant	Harel-Yoon syndrome [RCV001544353]\|Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV001544354]\|not provided [RCV004714269]\|not specified [RCV003487473]	Chr1:1534166 [GRCh38] Chr1:1469546 [GRCh37] Chr1:1p36.33	benign
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
NM_001170535.3(ATAD3A):c.792C>T (p.Ala264=)	single nucleotide variant	not provided [RCV001532044]	Chr1:1522785 [GRCh38] Chr1:1458165 [GRCh37] Chr1:1p36.33	likely benign
GRCh37/hg19 1p36.33-36.23(chr1:82154-7936272)x1	copy number loss	not provided [RCV000736304]	Chr1:82154..7936272 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:47851-6659872)x1	copy number loss	not provided [RCV000736294]	Chr1:47851..6659872 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:82154-3340855)x1	copy number loss	not provided [RCV000736303]	Chr1:82154..3340855 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:977062-5179574)x1	copy number loss	not provided [RCV000748814]	Chr1:977062..5179574 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_001170535.3(ATAD3A):c.1615-85T>C	single nucleotide variant	Harel-Yoon syndrome [RCV001544351]\|Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV001544352]\|not provided [RCV004715497]	Chr1:1533841 [GRCh38] Chr1:1469221 [GRCh37] Chr1:1p36.33	benign
NM_001170535.3(ATAD3A):c.1024C>T (p.Arg342Cys)	single nucleotide variant	not provided [RCV003314970]	Chr1:1523899 [GRCh38] Chr1:1459279 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1555G>A (p.Ala519Thr)	single nucleotide variant	Inborn genetic diseases [RCV003245642]	Chr1:1529272 [GRCh38] Chr1:1464652 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.206-12T>C	single nucleotide variant	Harel-Yoon syndrome [RCV001544216]\|Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV001544217]\|not provided [RCV004714268]\|not specified [RCV003487468]	Chr1:1516000 [GRCh38] Chr1:1451380 [GRCh37] Chr1:1p36.33	benign
NM_001170535.3(ATAD3A):c.*146C>G	single nucleotide variant	Harel-Yoon syndrome [RCV001544355]\|Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV001544356]\|not provided [RCV004715498]	Chr1:1534218 [GRCh38] Chr1:1469598 [GRCh37] Chr1:1p36.33	benign
NM_001170535.3(ATAD3A):c.1577C>G (p.Ser526Trp)	single nucleotide variant	Harel-Yoon syndrome [RCV001591665]\|Harel-Yoon syndrome [RCV002488417]\|not provided [RCV001751804]	Chr1:1529294 [GRCh38] Chr1:1464674 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33(chr1:1451392-1452792)x1	copy number loss	not provided [RCV000994331]	Chr1:1451392..1452792 [GRCh37] Chr1:1p36.33	likely pathogenic
NM_001170535.3(ATAD3A):c.1089+8C>T	single nucleotide variant	not provided [RCV000905029]	Chr1:1523972 [GRCh38] Chr1:1459352 [GRCh37] Chr1:1p36.33	benign\|likely benign
NM_001170535.3(ATAD3A):c.168G>A (p.Glu56=)	single nucleotide variant	not provided [RCV000949641]	Chr1:1512436 [GRCh38] Chr1:1447816 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.1239G>A (p.Ala413=)	single nucleotide variant	not provided [RCV000897877]	Chr1:1525264 [GRCh38] Chr1:1460644 [GRCh37] Chr1:1p36.33	likely benign
GRCh37/hg19 1p36.33-36.32(chr1:568708-3662949)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767775]	Chr1:568708..3662949 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_001170535.3(ATAD3A):c.1119C>T (p.Tyr373=)	single nucleotide variant	not provided [RCV000966721]	Chr1:1524302 [GRCh38] Chr1:1459682 [GRCh37] Chr1:1p36.33	benign\|likely benign
NM_001170535.3(ATAD3A):c.1266C>T (p.Thr422=)	single nucleotide variant	not provided [RCV000885104]	Chr1:1525291 [GRCh38] Chr1:1460671 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.1615-8C>T	single nucleotide variant	not provided [RCV000948525]	Chr1:1533918 [GRCh38] Chr1:1469298 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.1215-6T>C	single nucleotide variant	Harel-Yoon syndrome [RCV002505469]\|not provided [RCV000968504]	Chr1:1525234 [GRCh38] Chr1:1460614 [GRCh37] Chr1:1p36.33	benign\|likely benign
GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767774]	Chr1:823964..6828363 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:568708-2567832)	copy number loss	Chromosome 1p36 deletion syndrome [RCV000767776]	Chr1:568708..2567832 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	copy number loss	See cases [RCV000790584]	Chr1:82154..7637060 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	copy number loss	See cases [RCV000790592]	Chr1:82154..11784118 [GRCh37] Chr1:1p36.33-36.22	pathogenic
NM_001170535.3(ATAD3A):c.1749C>T (p.Pro583=)	single nucleotide variant	not provided [RCV000892429]	Chr1:1534060 [GRCh38] Chr1:1469440 [GRCh37] Chr1:1p36.33	benign\|likely benign
NM_001170535.3(ATAD3A):c.419G>A (p.Arg140His)	single nucleotide variant	not provided [RCV000993881]	Chr1:1517750 [GRCh38] Chr1:1453130 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33(chr1:1352533-1453416)x1	copy number loss	not provided [RCV000849976]	Chr1:1352533..1453416 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1217T>G (p.Leu406Arg)	single nucleotide variant	Congenital cerebellar hypoplasia [RCV000991277]\|Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV001171378]	Chr1:1525242 [GRCh38] Chr1:1460622 [GRCh37] Chr1:1p36.33	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787413]	Chr1:554375..9779842 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	copy number loss	not provided [RCV003312163]	Chr1:536777..6012896 [GRCh37] Chr1:1p36.33-36.31	pathogenic
NC_000001.10:g.(?_955543)_(2957600_?)del	deletion	Shprintzen-Goldberg syndrome [RCV000816642]	Chr1:955543..2957600 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	copy number loss	not provided [RCV001005057]	Chr1:849466..7786545 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:82154-3349513)x3	copy number gain	See cases [RCV001007411]	Chr1:82154..3349513 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:1329710-1453416)x1	copy number loss	not provided [RCV000848986]	Chr1:1329710..1453416 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33(chr1:1380600-1453590)x1	copy number loss	not provided [RCV000849598]	Chr1:1380600..1453590 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:849466-6002955)x1	copy number loss	not provided [RCV001005058]	Chr1:849466..6002955 [GRCh37] Chr1:1p36.33-36.31	pathogenic
GRCh37/hg19 1p36.33(chr1:1233200-1453416)x1	copy number loss	not provided [RCV000846661]	Chr1:1233200..1453416 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33(chr1:727731-2107858)x3	copy number gain	not provided [RCV000846682]	Chr1:727731..2107858 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.571G>A (p.Ala191Thr)	single nucleotide variant	not provided [RCV000993882]	Chr1:1520197 [GRCh38] Chr1:1455577 [GRCh37] Chr1:1p36.33	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001170535.3(ATAD3A):c.1725A>G (p.Glu575=)	single nucleotide variant	not provided [RCV000993883]	Chr1:1534036 [GRCh38] Chr1:1469416 [GRCh37] Chr1:1p36.33	likely benign
GRCh37/hg19 1p36.33(chr1:1352533-1453416)x1	copy number loss	not provided [RCV000846407]	Chr1:1352533..1453416 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-4829059)x1	copy number loss	not provided [RCV001005060]	Chr1:849466..4829059 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_001170535.3(ATAD3A):c.490C>T (p.Gln164Ter)	single nucleotide variant	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV001027873]	Chr1:1518966 [GRCh38] Chr1:1454346 [GRCh37] Chr1:1p36.33	pathogenic
NM_001170535.3(ATAD3A):c.*147G>C	single nucleotide variant	Harel-Yoon syndrome [RCV001544357]\|Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV001544358]\|not provided [RCV004714270]	Chr1:1534219 [GRCh38] Chr1:1469599 [GRCh37] Chr1:1p36.33	benign
NM_001170535.3(ATAD3A):c.281_282+1del	deletion	not provided [RCV001560264]	Chr1:1516087..1516089 [GRCh38] Chr1:1451467..1451469 [GRCh37] Chr1:1p36.33	likely pathogenic
NM_001170535.3(ATAD3A):c.1006A>G (p.Arg336Gly)	single nucleotide variant	Harel-Yoon syndrome [RCV001723517]	Chr1:1523881 [GRCh38] Chr1:1459261 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.384C>T (p.Ala128=)	single nucleotide variant	not provided [RCV001532043]	Chr1:1517412 [GRCh38] Chr1:1452792 [GRCh37] Chr1:1p36.33	likely benign\|conflicting interpretations of pathogenicity
NM_001170535.3(ATAD3A):c.486C>T (p.Ser162=)	single nucleotide variant	not provided [RCV000909059]	Chr1:1518962 [GRCh38] Chr1:1454342 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.672G>A (p.Glu224=)	single nucleotide variant	Harel-Yoon syndrome [RCV002495492]\|not provided [RCV000909149]	Chr1:1520298 [GRCh38] Chr1:1455678 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.750+10C>A	single nucleotide variant	Harel-Yoon syndrome [RCV002479045]\|not provided [RCV000909150]	Chr1:1520627 [GRCh38] Chr1:1456007 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.1602C>T (p.Ala534=)	single nucleotide variant	Harel-Yoon syndrome [RCV002487981]\|not provided [RCV000909151]	Chr1:1529319 [GRCh38] Chr1:1464699 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.931C>T (p.Pro311Ser)	single nucleotide variant	not provided [RCV000974809]	Chr1:1523535 [GRCh38] Chr1:1458915 [GRCh37] Chr1:1p36.33	benign
NM_001170535.3(ATAD3A):c.960C>T (p.Leu320=)	single nucleotide variant	not provided [RCV000974810]	Chr1:1523564 [GRCh38] Chr1:1458944 [GRCh37] Chr1:1p36.33	benign
NM_001170535.3(ATAD3A):c.1267-8C>G	single nucleotide variant	Harel-Yoon syndrome [RCV002503104]\|not provided [RCV000974811]	Chr1:1526453 [GRCh38] Chr1:1461833 [GRCh37] Chr1:1p36.33	benign\|likely benign
NM_001170535.3(ATAD3A):c.1420G>C (p.Asp474His)	single nucleotide variant	not provided [RCV000974812]	Chr1:1527777 [GRCh38] Chr1:1463157 [GRCh37] Chr1:1p36.33	benign
NM_001170535.3(ATAD3A):c.1732G>A (p.Gly578Arg)	single nucleotide variant	not provided [RCV000894871]	Chr1:1534043 [GRCh38] Chr1:1469423 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.1615-7C>T	single nucleotide variant	not provided [RCV000948526]	Chr1:1533919 [GRCh38] Chr1:1469299 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.45C>T (p.Gly15=)	single nucleotide variant	not provided [RCV000880571]	Chr1:1512313 [GRCh38] Chr1:1447693 [GRCh37] Chr1:1p36.33	benign
NM_001170535.3(ATAD3A):c.864G>A (p.Thr288=)	single nucleotide variant	not provided [RCV000953413]	Chr1:1522857 [GRCh38] Chr1:1458237 [GRCh37] Chr1:1p36.33	benign
NM_001170535.3(ATAD3A):c.400G>A (p.Asp134Asn)	single nucleotide variant	Harel-Yoon syndrome [RCV001170053]	Chr1:1517731 [GRCh38] Chr1:1453111 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33(chr1:849466-1649932)x1	copy number loss	not provided [RCV001005056]	Chr1:849466..1649932 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.412C>T (p.Arg138Trp)	single nucleotide variant	Harel-Yoon syndrome [RCV001563605]\|Harel-Yoon syndrome [RCV002501909]\|Inborn genetic diseases [RCV003161103]\|Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV003223423]\|not provided [RCV002508318]	Chr1:1517743 [GRCh38] Chr1:1453123 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.986G>A (p.Arg329His)	single nucleotide variant	Harel-Yoon syndrome [RCV001563606]	Chr1:1523861 [GRCh38] Chr1:1459241 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1072A>T (p.Lys358Ter)	single nucleotide variant	Harel-Yoon syndrome [RCV001563607]\|Harel-Yoon syndrome [RCV002495898]	Chr1:1523947 [GRCh38] Chr1:1459327 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.*154C>T	single nucleotide variant	Harel-Yoon syndrome [RCV001544359]\|Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV001544360]\|not provided [RCV004715499]	Chr1:1534226 [GRCh38] Chr1:1469606 [GRCh37] Chr1:1p36.33	benign
NM_001170535.3(ATAD3A):c.1647G>C (p.Leu549=)	single nucleotide variant	not provided [RCV004809518]	Chr1:1533958 [GRCh38] Chr1:1469338 [GRCh37] Chr1:1p36.33	likely benign
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)x1	copy number loss	not provided [RCV001005059]	Chr1:849466..5625566 [GRCh37] Chr1:1p36.33-36.31	pathogenic
NM_001170535.3(ATAD3A):c.230T>G (p.Leu77Arg)	single nucleotide variant	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV001027874]	Chr1:1516036 [GRCh38] Chr1:1451416 [GRCh37] Chr1:1p36.33	pathogenic
NC_000001.10:g.(?_955543)_(3350385_?)del	deletion	Left ventricular noncompaction 8 [RCV001033604]	Chr1:955543..3350385 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
NM_001170535.3(ATAD3A):c.234A>G (p.Ala78=)	single nucleotide variant	Inborn genetic diseases [RCV004968204]\|not provided [RCV001532042]	Chr1:1516040 [GRCh38] Chr1:1451420 [GRCh37] Chr1:1p36.33	likely benign\|uncertain significance
NC_000001.10:g.(?_955543)_(2238214_?)del	deletion	Congenital myasthenic syndrome 8 [RCV001033252]	Chr1:955543..2238214 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	copy number loss	Harel-Yoon syndrome [RCV001254115]	Chr1:762080..7309686 [GRCh37] Chr1:1p36.33-36.23	likely pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1	copy number loss	See cases [RCV002285055]	Chr1:849466..2518608 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_001170535.3(ATAD3A):c.283-158G>A	single nucleotide variant	Harel-Yoon syndrome [RCV001334857]	Chr1:1517153 [GRCh38] Chr1:1452533 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_1249188)_(1961741_?)del	deletion	Idiopathic generalized epilepsy [RCV001295086]	Chr1:1249188..1961741 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1141dup (p.Val381fs)	duplication	Harel-Yoon syndrome [RCV001293245]	Chr1:1524323..1524324 [GRCh38] Chr1:1459703..1459704 [GRCh37] Chr1:1p36.33	likely pathogenic
NM_001170535.3(ATAD3A):c.1414del (p.His472fs)	deletion	Harel-Yoon syndrome [RCV001293246]	Chr1:1527770 [GRCh38] Chr1:1463150 [GRCh37] Chr1:1p36.33	likely pathogenic
GRCh37/hg19 1p36.33(chr1:849466-2033256)x1	copy number loss	not provided [RCV001260111]	Chr1:849466..2033256 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33(chr1:849466-1806659)x1	copy number loss	not provided [RCV001260110]	Chr1:849466..1806659 [GRCh37] Chr1:1p36.33	likely pathogenic
NM_001170535.3(ATAD3A):c.220G>T (p.Ala74Ser)	single nucleotide variant	Inborn genetic diseases [RCV001266412]	Chr1:1516026 [GRCh38] Chr1:1451406 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:1-5592835)x1	copy number loss	not provided [RCV001260116]	Chr1:1..5592835 [GRCh37] Chr1:1p36.33-36.31	pathogenic
NM_001170535.3(ATAD3A):c.384+1G>A	single nucleotide variant	not provided [RCV001267961]	Chr1:1517413 [GRCh38] Chr1:1452793 [GRCh37] Chr1:1p36.33	likely pathogenic
GRCh37/hg19 1p36.33(chr1:1418289-1454405)x1	copy number loss	not provided [RCV001537885]	Chr1:1418289..1454405 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33(chr1:753462-1717335)x1	copy number loss	not provided [RCV001270634]	Chr1:753462..1717335 [GRCh37] Chr1:1p36.33	pathogenic
NM_001170535.3(ATAD3A):c.283-87C>A	single nucleotide variant	Inborn genetic diseases [RCV001265791]	Chr1:1517224 [GRCh38] Chr1:1452604 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33(chr1:849466-1976788)x1	copy number loss	not provided [RCV001260112]	Chr1:849466..1976788 [GRCh37] Chr1:1p36.33	pathogenic
NM_001170535.3(ATAD3A):c.736A>G (p.Lys246Glu)	single nucleotide variant	Harel-Yoon syndrome [RCV001281072]	Chr1:1520603 [GRCh38] Chr1:1455983 [GRCh37] Chr1:1p36.33	pathogenic\|uncertain significance
NM_001170535.3(ATAD3A):c.515-4G>C	single nucleotide variant	Harel-Yoon syndrome [RCV001330436]	Chr1:1520137 [GRCh38] Chr1:1455517 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.76C>T (p.Gln26Ter)	single nucleotide variant	Harel-Yoon syndrome [RCV001330439]	Chr1:1512344 [GRCh38] Chr1:1447724 [GRCh37] Chr1:1p36.33	pathogenic
NM_001170535.3(ATAD3A):c.980G>C (p.Arg327Pro)	single nucleotide variant	Harel-Yoon syndrome [RCV001293244]	Chr1:1523855 [GRCh38] Chr1:1459235 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.700G>A (p.Gly234Arg)	single nucleotide variant	Harel-Yoon syndrome [RCV001330437]	Chr1:1520567 [GRCh38] Chr1:1455947 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1487C>T (p.Pro496Leu)	single nucleotide variant	Harel-Yoon syndrome [RCV001334855]	Chr1:1527844 [GRCh38] Chr1:1463224 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.282+484_444+231del	deletion	Harel-Yoon syndrome [RCV001293252]	Chr1:1516568..1518002 [GRCh38] Chr1:1451948..1453382 [GRCh37] Chr1:1p36.33	pathogenic
NM_001170535.3(ATAD3A):c.1633G>A (p.Glu545Lys)	single nucleotide variant	Harel-Yoon syndrome [RCV001334856]\|not provided [RCV001573714]	Chr1:1533944 [GRCh38] Chr1:1469324 [GRCh37] Chr1:1p36.33	uncertain significance
Single allele	deletion	Harel-Yoon syndrome [RCV001293251]	Chr1:1420661..1458286 [GRCh37] Chr1:1p36.33	pathogenic
Single allele	deletion	Harel-Yoon syndrome [RCV001293252]	Chr1:1451952..1453386 [GRCh37] Chr1:1p36.33	pathogenic
NM_001170535.3(ATAD3A):c.739G>A (p.Val247Met)	single nucleotide variant	Harel-Yoon syndrome [RCV001330438]\|Inborn genetic diseases [RCV004035694]	Chr1:1520606 [GRCh38] Chr1:1455986 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.360C>T (p.Ser120=)	single nucleotide variant	not provided [RCV001310829]	Chr1:1517388 [GRCh38] Chr1:1452768 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.521T>G (p.Val174Gly)	single nucleotide variant	Harel-Yoon syndrome [RCV001335738]	Chr1:1520147 [GRCh38] Chr1:1455527 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.964-1G>T	single nucleotide variant	Harel-Yoon syndrome [RCV001270778]	Chr1:1523838 [GRCh38] Chr1:1459218 [GRCh37] Chr1:1p36.33	likely pathogenic
NM_001170535.3(ATAD3A):c.150C>G (p.Phe50Leu)	single nucleotide variant	Harel-Yoon syndrome [RCV001293241]	Chr1:1512418 [GRCh38] Chr1:1447798 [GRCh37] Chr1:1p36.33	uncertain significance
Single allele	deletion	Harel-Yoon syndrome [RCV001293249]	Chr1:1414584..1452593 [GRCh37] Chr1:1p36.33	pathogenic
NM_001170535.3(ATAD3A):c.882T>G (p.Leu294=)	single nucleotide variant	not provided [RCV001534712]	Chr1:1522875 [GRCh38] Chr1:1458255 [GRCh37] Chr1:1p36.33	benign
NC_000001.11:g.(1475764_1482998)_(1517413_1518921)del	deletion	Harel-Yoon syndrome [RCV001591664]	Chr1:1482998..1517413 [GRCh38] Chr1:1p36.33	likely pathogenic
NM_001170535.3(ATAD3A):c.298G>A (p.Val100Met)	single nucleotide variant	not provided [RCV001726725]	Chr1:1517326 [GRCh38] Chr1:1452706 [GRCh37] Chr1:1p36.33	benign\|likely benign
NM_001170535.3(ATAD3A):c.1338G>T (p.Lys446Asn)	single nucleotide variant	Inborn genetic diseases [RCV003269147]\|not provided [RCV002248230]	Chr1:1527695 [GRCh38] Chr1:1463075 [GRCh37] Chr1:1p36.33	likely pathogenic\|uncertain significance
NM_001170535.3(ATAD3A):c.1361A>G (p.Asn454Ser)	single nucleotide variant	Harel-Yoon syndrome [RCV002249277]\|Inborn genetic diseases [RCV004965826]	Chr1:1527718 [GRCh38] Chr1:1463098 [GRCh37] Chr1:1p36.33	pathogenic\|likely pathogenic\|uncertain significance
NM_001170535.3(ATAD3A):c.928C>T (p.Arg310Ter)	single nucleotide variant	not provided [RCV001726726]	Chr1:1523532 [GRCh38] Chr1:1458912 [GRCh37] Chr1:1p36.33	likely pathogenic
NM_001170535.3(ATAD3A):c.1735C>T (p.Arg579Cys)	single nucleotide variant	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV001779408]	Chr1:1534046 [GRCh38] Chr1:1469426 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1045C>G (p.Leu349Val)	single nucleotide variant	Harel-Yoon syndrome [RCV001733698]	Chr1:1523920 [GRCh38] Chr1:1459300 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.859G>C (p.Glu287Gln)	single nucleotide variant	not provided [RCV001770824]	Chr1:1522852 [GRCh38] Chr1:1458232 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.185C>T (p.Ala62Val)	single nucleotide variant	Inborn genetic diseases [RCV002539927]\|not provided [RCV001752232]	Chr1:1512453 [GRCh38] Chr1:1447833 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1124T>A (p.Ile375Asn)	single nucleotide variant	not provided [RCV001752242]	Chr1:1524307 [GRCh38] Chr1:1459687 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.282+5G>A	single nucleotide variant	not provided [RCV001800143]	Chr1:1516093 [GRCh38] Chr1:1451473 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.503C>G (p.Ala168Gly)	single nucleotide variant	not provided [RCV001768666]	Chr1:1518979 [GRCh38] Chr1:1454359 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1507C>T (p.Arg503Cys)	single nucleotide variant	Inborn genetic diseases [RCV004040845]\|not provided [RCV001794721]	Chr1:1529224 [GRCh38] Chr1:1464604 [GRCh37] Chr1:1p36.33	likely benign\|uncertain significance
NM_001170535.3(ATAD3A):c.1667C>T (p.Thr556Ile)	single nucleotide variant	Inborn genetic diseases [RCV004040844]\|not provided [RCV001794656]	Chr1:1533978 [GRCh38] Chr1:1469358 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:753552-4034574)x1	copy number loss	not provided [RCV001795535]	Chr1:753552..4034574 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_001170535.3(ATAD3A):c.1076C>T (p.Thr359Met)	single nucleotide variant	Harel-Yoon syndrome [RCV001795580]\|not provided [RCV003136160]	Chr1:1523951 [GRCh38] Chr1:1459331 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1090-3C>G	single nucleotide variant	Harel-Yoon syndrome [RCV001795586]	Chr1:1524270 [GRCh38] Chr1:1459650 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.604G>A (p.Glu202Lys)	single nucleotide variant	not provided [RCV001795646]	Chr1:1520230 [GRCh38] Chr1:1455610 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.964-5G>A	single nucleotide variant	not provided [RCV001760611]	Chr1:1523834 [GRCh38] Chr1:1459214 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.385-3C>G	single nucleotide variant	not provided [RCV001751836]	Chr1:1517713 [GRCh38] Chr1:1453093 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.340G>A (p.Glu114Lys)	single nucleotide variant	not provided [RCV001797367]	Chr1:1517368 [GRCh38] Chr1:1452748 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.462G>T (p.Glu154Asp)	single nucleotide variant	not provided [RCV001816038]	Chr1:1518938 [GRCh38] Chr1:1454318 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.558G>A (p.Met186Ile)	single nucleotide variant	Inborn genetic diseases [RCV004671427]\|not provided [RCV001760612]	Chr1:1520184 [GRCh38] Chr1:1455564 [GRCh37] Chr1:1p36.33	likely benign\|uncertain significance
NM_001170535.3(ATAD3A):c.1442G>A (p.Arg481Gln)	single nucleotide variant	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV001779347]	Chr1:1527799 [GRCh38] Chr1:1463179 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1748_1753delinsAACCCT (p.Pro583_Pro585delinsGlnProSer)	indel	not specified [RCV001815080]	Chr1:1534059..1534064 [GRCh38] Chr1:1469439..1469444 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1703A>T (p.Lys568Met)	single nucleotide variant	Inborn genetic diseases [RCV004040942]\|not provided [RCV001816039]	Chr1:1534014 [GRCh38] Chr1:1469394 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.939C>T (p.Asp313=)	single nucleotide variant	not provided [RCV004809414]	Chr1:1523543 [GRCh38] Chr1:1458923 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.1193G>A (p.Trp398Ter)	single nucleotide variant	Harel-Yoon syndrome [RCV001809218]	Chr1:1524376 [GRCh38] Chr1:1459756 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849466-2621542)x1	copy number loss	not provided [RCV001829223]	Chr1:849466..2621542 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NC_000001.10:g.(?_989123)_(3160711_?)del	deletion	Left ventricular noncompaction 8 [RCV002004579]	Chr1:989123..3160711 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	copy number loss	not provided [RCV001832902]	Chr1:849466..17525065 [GRCh37] Chr1:1p36.33-36.13	pathogenic
NM_001170535.3(ATAD3A):c.1751C>T (p.Ser584Phe)	single nucleotide variant	Harel-Yoon syndrome [RCV001839162]	Chr1:1534062 [GRCh38] Chr1:1469442 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_1455521)_(1567753_?)del	deletion	not provided [RCV001916312]	Chr1:1455521..1567753 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_955553)_(3350375_?)del	deletion	Left ventricular noncompaction 8 [RCV001955735]	Chr1:955553..3350375 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
NC_000001.10:g.(?_861322)_(2161194_?)del	deletion	Idiopathic generalized epilepsy [RCV002050272]	Chr1:861322..2161194 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_861322)_(3768971_?)del	deletion	Combined immunodeficiency due to OX40 deficiency [RCV001919158]\|Ehlers-Danlos syndrome, spondylodysplastic type, 2 [RCV001923367]\|Joubert syndrome 25 [RCV001923368]\|Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency [RCV001919159]\|Peroxisome biogenesis disorder, complementation group 7 [RCV001919157]\|not provided [RCV001943250]	Chr1:861322..3768971 [GRCh37] Chr1:1p36.33-36.32	pathogenic\|uncertain significance\|no classifications from unflagged records
NM_001170535.3(ATAD3A):c.19A>G (p.Ile7Val)	single nucleotide variant	Harel-Yoon syndrome [RCV003994409]\|not provided [RCV002211061]	Chr1:1512287 [GRCh38] Chr1:1447667 [GRCh37] Chr1:1p36.33	benign\|likely benign
NM_001170535.3(ATAD3A):c.760C>G (p.Leu254Val)	single nucleotide variant	not specified [RCV002246982]	Chr1:1522753 [GRCh38] Chr1:1458133 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.616ATC[1] (p.Ile207del)	microsatellite	not provided [RCV002211062]	Chr1:1520241..1520243 [GRCh38] Chr1:1455621..1455623 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1227T>C (p.Phe409=)	single nucleotide variant	not provided [RCV002211064]	Chr1:1525252 [GRCh38] Chr1:1460632 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.1583G>A (p.Arg528Gln)	single nucleotide variant	Harel-Yoon syndrome [RCV002227839]	Chr1:1529300 [GRCh38] Chr1:1464680 [GRCh37] Chr1:1p36.33	likely pathogenic
Single allele	duplication	ATAD3 gene cluster related condition [RCV002253059]	Chr1:1397489..1453590 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.283-76C>T	single nucleotide variant	not provided [RCV002221812]		benign
NM_001170535.3(ATAD3A):c.302A>C (p.Glu101Ala)	single nucleotide variant	Harel-Yoon syndrome [RCV004788355]	Chr1:1517330 [GRCh38] Chr1:1452710 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1365_1366del (p.Gln455fs)	deletion	Harel-Yoon syndrome [RCV004783312]	Chr1:1527722..1527723 [GRCh38] Chr1:1463102..1463103 [GRCh37] Chr1:1p36.33	pathogenic
NC_000001.10:g.(?_1447541)_(1447854_1451391)dup	duplication	not specified [RCV004783347]	Chr1:1447541..1447854 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1499G>T (p.Gly500Val)	single nucleotide variant	Harel-Yoon syndrome [RCV004788194]	Chr1:1527856 [GRCh38] Chr1:1463236 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1603G>A (p.Val535Met)	single nucleotide variant	not provided [RCV003152219]	Chr1:1529320 [GRCh38] Chr1:1464700 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1577C>T (p.Ser526Leu)	single nucleotide variant	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV003148334]	Chr1:1529294 [GRCh38] Chr1:1464674 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.480_500del (p.Glu161_Glu167del)	deletion	Harel-Yoon syndrome [RCV002245267]	Chr1:1518947..1518967 [GRCh38] Chr1:1454327..1454347 [GRCh37] Chr1:1p36.33	uncertain significance
Single allele	deletion	Chromosome 1p36 deletion syndrome [RCV002247723]	Chr1:817861..1836133 [GRCh38] Chr1:1p36.33	pathogenic
NM_001170535.3(ATAD3A):c.547A>G (p.Lys183Glu)	single nucleotide variant	Harel-Yoon syndrome [RCV002272600]	Chr1:1520173 [GRCh38] Chr1:1455553 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.131A>G (p.Lys44Arg)	single nucleotide variant	Harel-Yoon syndrome [RCV003148374]	Chr1:1512399 [GRCh38] Chr1:1447779 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1249C>T (p.Leu417Phe)	single nucleotide variant	not provided [RCV002292717]	Chr1:1525274 [GRCh38] Chr1:1460654 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV002279763]	Chr1:834101..7930605 [GRCh37] Chr1:1p36.33-36.23	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849466-4183006)	copy number loss	Chromosome 1p36 deletion syndrome [RCV002280716]	Chr1:849466..4183006 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	copy number loss	Chromosome 1p36 deletion syndrome, proximal [RCV002280717]	Chr1:849466..10258804 [GRCh37] Chr1:1p36.33-36.22	pathogenic
NM_001170535.3(ATAD3A):c.932C>G (p.Pro311Arg)	single nucleotide variant	Harel-Yoon syndrome [RCV002266708]	Chr1:1523536 [GRCh38] Chr1:1458916 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1670G>A (p.Arg557His)	single nucleotide variant	Inborn genetic diseases [RCV003096176]\|not provided [RCV002274632]	Chr1:1533981 [GRCh38] Chr1:1469361 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.797A>G (p.Asn266Ser)	single nucleotide variant	not provided [RCV002274771]	Chr1:1522790 [GRCh38] Chr1:1458170 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.646G>T (p.Ala216Ser)	single nucleotide variant	Harel-Yoon syndrome [RCV002502076]\|not provided [RCV002262200]	Chr1:1520272 [GRCh38] Chr1:1455652 [GRCh37] Chr1:1p36.33	likely benign
NC_000001.10:g.(1455998_1458123)_(1458280_1458890)del	deletion	not specified [RCV003236484]	Chr1:1458123..1458280 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1611G>A (p.Trp537Ter)	single nucleotide variant	Harel-Yoon syndrome [RCV003236238]	Chr1:1529328 [GRCh38] Chr1:1464708 [GRCh37] Chr1:1p36.33	likely pathogenic
NM_001170535.3(ATAD3A):c.2T>A (p.Met1Lys)	single nucleotide variant	not provided [RCV002291983]	Chr1:1512270 [GRCh38] Chr1:1447650 [GRCh37] Chr1:1p36.33	likely pathogenic
NM_001170535.3(ATAD3A):c.944T>C (p.Leu315Pro)	single nucleotide variant	not provided [RCV002283082]	Chr1:1523548 [GRCh38] Chr1:1458928 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1058C>T (p.Pro353Leu)	single nucleotide variant	Harel-Yoon syndrome [RCV002289191]	Chr1:1523933 [GRCh38] Chr1:1459313 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.106G>C (p.Gly36Arg)	single nucleotide variant	not provided [RCV003236099]	Chr1:1512374 [GRCh38] Chr1:1447754 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.31(chr1:849466-5625566)	copy number loss	Chromosome 1p36 deletion syndrome [RCV002280715]	Chr1:849466..5625566 [GRCh37] Chr1:1p36.33-36.31	pathogenic
NM_001170535.3(ATAD3A):c.155C>T (p.Pro52Leu)	single nucleotide variant	Harel-Yoon syndrome [RCV002279864]	Chr1:1512423 [GRCh38] Chr1:1447803 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1447C>G (p.Arg483Gly)	single nucleotide variant	Harel-Yoon syndrome [RCV002260547]	Chr1:1527804 [GRCh38] Chr1:1463184 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.993C>T (p.Ile331=)	single nucleotide variant	not provided [RCV002262201]	Chr1:1523868 [GRCh38] Chr1:1459248 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.342G>C (p.Glu114Asp)	single nucleotide variant	not provided [RCV002469555]	Chr1:1517370 [GRCh38] Chr1:1452750 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.19A>C (p.Ile7Leu)	single nucleotide variant	not provided [RCV002286912]	Chr1:1512287 [GRCh38] Chr1:1447667 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1384G>A (p.Ala462Thr)	single nucleotide variant	Inborn genetic diseases [RCV003239325]\|Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV003148380]	Chr1:1527741 [GRCh38] Chr1:1463121 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1395_1406del (p.Asp465_Asn468del)	deletion	not provided [RCV003152216]	Chr1:1527743..1527754 [GRCh38] Chr1:1463123..1463134 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1279G>A (p.Glu427Lys)	single nucleotide variant	Inborn genetic diseases [RCV003259260]	Chr1:1526473 [GRCh38] Chr1:1461853 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:1130311-2397177)x3	copy number gain	not provided [RCV002474934]	Chr1:1130311..2397177 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
NM_001170535.3(ATAD3A):c.125C>T (p.Ala42Val)	single nucleotide variant	not provided [RCV003156449]	Chr1:1512393 [GRCh38] Chr1:1447773 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.868C>T (p.Arg290Cys)	single nucleotide variant	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV002332957]	Chr1:1522861 [GRCh38] Chr1:1458241 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:1335011-2302755)x1	copy number loss	not provided [RCV002472586]	Chr1:1335011..2302755 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849467-2972435)x1	copy number loss	not provided [RCV002472529]	Chr1:849467..2972435 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_001170535.3(ATAD3A):c.70C>T (p.Pro24Ser)	single nucleotide variant	not provided [RCV002306206]	Chr1:1512338 [GRCh38] Chr1:1447718 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1651G>T (p.Glu551Ter)	single nucleotide variant	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV002332958]	Chr1:1533962 [GRCh38] Chr1:1469342 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.283-75G>C	single nucleotide variant	Inborn genetic diseases [RCV002905138]	Chr1:1517236 [GRCh38] Chr1:1452616 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.692C>T (p.Thr231Ile)	single nucleotide variant	Inborn genetic diseases [RCV002684437]	Chr1:1520559 [GRCh38] Chr1:1455939 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.445-3C>T	single nucleotide variant	Inborn genetic diseases [RCV002905422]	Chr1:1518918 [GRCh38] Chr1:1454298 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1342A>G (p.Met448Val)	single nucleotide variant	Inborn genetic diseases [RCV002777167]	Chr1:1527699 [GRCh38] Chr1:1463079 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.229C>A (p.Leu77Met)	single nucleotide variant	not provided [RCV002511265]	Chr1:1516035 [GRCh38] Chr1:1451415 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1547C>T (p.Ser516Leu)	single nucleotide variant	Inborn genetic diseases [RCV002906777]	Chr1:1529264 [GRCh38] Chr1:1464644 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1684G>A (p.Val562Ile)	single nucleotide variant	Inborn genetic diseases [RCV002818744]	Chr1:1533995 [GRCh38] Chr1:1469375 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.876G>C (p.Thr292=)	single nucleotide variant	not provided [RCV002511569]	Chr1:1522869 [GRCh38] Chr1:1458249 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.563G>A (p.Arg188Gln)	single nucleotide variant	Inborn genetic diseases [RCV002686572]\|not provided [RCV003491268]	Chr1:1520189 [GRCh38] Chr1:1455569 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.562C>T (p.Arg188Ter)	single nucleotide variant	not provided [RCV003156539]	Chr1:1520188 [GRCh38] Chr1:1455568 [GRCh37] Chr1:1p36.33	pathogenic
NM_001170535.3(ATAD3A):c.440A>G (p.Gln147Arg)	single nucleotide variant	not provided [RCV002462492]	Chr1:1517771 [GRCh38] Chr1:1453151 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1211G>A (p.Arg404His)	single nucleotide variant	Inborn genetic diseases [RCV002779818]	Chr1:1524394 [GRCh38] Chr1:1459774 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.325C>T (p.Arg109Trp)	single nucleotide variant	Inborn genetic diseases [RCV002734186]	Chr1:1517353 [GRCh38] Chr1:1452733 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1737T>C (p.Arg579=)	single nucleotide variant	not provided [RCV002511570]	Chr1:1534048 [GRCh38] Chr1:1469428 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.1726G>A (p.Gly576Arg)	single nucleotide variant	Inborn genetic diseases [RCV002707628]	Chr1:1534037 [GRCh38] Chr1:1469417 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.283-117CA[2]	microsatellite	Inborn genetic diseases [RCV002797737]	Chr1:1517194..1517195 [GRCh38] Chr1:1452574..1452575 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.196G>C (p.Glu66Gln)	single nucleotide variant	Inborn genetic diseases [RCV002703680]	Chr1:1512464 [GRCh38] Chr1:1447844 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1689del (p.Gln563fs)	deletion	not provided [RCV002510048]	Chr1:1534000 [GRCh38] Chr1:1469380 [GRCh37] Chr1:1p36.33	likely pathogenic
NM_001170535.3(ATAD3A):c.1396C>T (p.Arg466Cys)	single nucleotide variant	Inborn genetic diseases [RCV002925588]	Chr1:1527753 [GRCh38] Chr1:1463133 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1120G>A (p.Ala374Thr)	single nucleotide variant	Inborn genetic diseases [RCV002693208]	Chr1:1524303 [GRCh38] Chr1:1459683 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1338-1G>A	single nucleotide variant	Inborn genetic diseases [RCV002848811]	Chr1:1527694 [GRCh38] Chr1:1463074 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1238C>T (p.Ala413Val)	single nucleotide variant	Inborn genetic diseases [RCV002693387]	Chr1:1525263 [GRCh38] Chr1:1460643 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1266+1G>A	single nucleotide variant	not provided [RCV003036989]	Chr1:1525292 [GRCh38] Chr1:1460672 [GRCh37] Chr1:1p36.33	likely pathogenic
NM_001170535.3(ATAD3A):c.1739G>A (p.Gly580Glu)	single nucleotide variant	Inborn genetic diseases [RCV002764818]	Chr1:1534050 [GRCh38] Chr1:1469430 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1752_1754del (p.Pro585del)	deletion	Inborn genetic diseases [RCV002764819]	Chr1:1534062..1534064 [GRCh38] Chr1:1469442..1469444 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.191A>C (p.Glu64Ala)	single nucleotide variant	Inborn genetic diseases [RCV002665449]	Chr1:1512459 [GRCh38] Chr1:1447839 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1697A>G (p.Gln566Arg)	single nucleotide variant	Inborn genetic diseases [RCV002708600]	Chr1:1534008 [GRCh38] Chr1:1469388 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1721C>G (p.Ala574Gly)	single nucleotide variant	Inborn genetic diseases [RCV002764817]	Chr1:1534032 [GRCh38] Chr1:1469412 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.511C>T (p.Arg171Ter)	single nucleotide variant	Inborn genetic diseases [RCV002665308]\|not provided [RCV004593175]	Chr1:1518987 [GRCh38] Chr1:1454367 [GRCh37] Chr1:1p36.33	pathogenic\|uncertain significance
NM_001170535.3(ATAD3A):c.602G>A (p.Arg201Gln)	single nucleotide variant	Inborn genetic diseases [RCV002826338]	Chr1:1520228 [GRCh38] Chr1:1455608 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.622C>T (p.Arg208Cys)	single nucleotide variant	Inborn genetic diseases [RCV002955311]	Chr1:1520248 [GRCh38] Chr1:1455628 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.818G>C (p.Arg273Pro)	single nucleotide variant	Inborn genetic diseases [RCV002831749]	Chr1:1522811 [GRCh38] Chr1:1458191 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.476A>G (p.Gln159Arg)	single nucleotide variant	Inborn genetic diseases [RCV002940380]	Chr1:1518952 [GRCh38] Chr1:1454332 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1157G>A (p.Arg386Gln)	single nucleotide variant	Inborn genetic diseases [RCV002965076]	Chr1:1524340 [GRCh38] Chr1:1459720 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1753C>T (p.Pro585Ser)	single nucleotide variant	Inborn genetic diseases [RCV002935571]	Chr1:1534064 [GRCh38] Chr1:1469444 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.283-27C>G	single nucleotide variant	Inborn genetic diseases [RCV002879372]	Chr1:1517284 [GRCh38] Chr1:1452664 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1252C>T (p.Arg418Trp)	single nucleotide variant	Harel-Yoon syndrome [RCV004698578]\|Inborn genetic diseases [RCV002668249]	Chr1:1525277 [GRCh38] Chr1:1460657 [GRCh37] Chr1:1p36.33	benign\|uncertain significance
NM_001170535.3(ATAD3A):c.1736_1737delinsCC (p.Arg579Pro)	indel	Inborn genetic diseases [RCV002702743]	Chr1:1534047..1534048 [GRCh38] Chr1:1469427..1469428 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1508G>A (p.Arg503His)	single nucleotide variant	Inborn genetic diseases [RCV002960447]\|not provided [RCV003140192]	Chr1:1529225 [GRCh38] Chr1:1464605 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.283-47G>A	single nucleotide variant	Inborn genetic diseases [RCV002959916]	Chr1:1517264 [GRCh38] Chr1:1452644 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1743C>G (p.Asp581Glu)	single nucleotide variant	Inborn genetic diseases [RCV002725056]	Chr1:1534054 [GRCh38] Chr1:1469434 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.275A>G (p.Lys92Arg)	single nucleotide variant	not provided [RCV004795119]	Chr1:1516081 [GRCh38] Chr1:1451461 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1074G>T (p.Lys358Asn)	single nucleotide variant	not provided [RCV004778109]	Chr1:1523949 [GRCh38] Chr1:1459329 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.283-114A>G	single nucleotide variant	Inborn genetic diseases [RCV003207688]	Chr1:1517197 [GRCh38] Chr1:1452577 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.283-105T>C	single nucleotide variant	Inborn genetic diseases [RCV003219921]	Chr1:1517206 [GRCh38] Chr1:1452586 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.-1C>T	single nucleotide variant	not provided [RCV003228553]	Chr1:1512268 [GRCh38] Chr1:1447648 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1373A>C (p.Gln458Pro)	single nucleotide variant	Harel-Yoon syndrome [RCV003223596]	Chr1:1527730 [GRCh38] Chr1:1463110 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.385-2A>C	single nucleotide variant	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV003223544]	Chr1:1517714 [GRCh38] Chr1:1453094 [GRCh37] Chr1:1p36.33	likely pathogenic
NM_001170535.3(ATAD3A):c.611C>T (p.Ala204Val)	single nucleotide variant	not provided [RCV003141638]	Chr1:1520237 [GRCh38] Chr1:1455617 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1651G>A (p.Glu551Lys)	single nucleotide variant	Inborn genetic diseases [RCV003358151]\|not provided [RCV003141639]	Chr1:1533962 [GRCh38] Chr1:1469342 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.568G>C (p.Glu190Gln)	single nucleotide variant	not provided [RCV003141640]	Chr1:1520194 [GRCh38] Chr1:1455574 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.52C>T (p.Pro18Ser)	single nucleotide variant	not provided [RCV003141641]	Chr1:1512320 [GRCh38] Chr1:1447700 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	copy number loss	Chromosome 1p36 deletion syndrome [RCV003226604]	Chr1:1..2580976 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_001170535.3(ATAD3A):c.1096G>A (p.Ala366Thr)	single nucleotide variant	Inborn genetic diseases [RCV003196798]	Chr1:1524279 [GRCh38] Chr1:1459659 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.722T>C (p.Val241Ala)	single nucleotide variant	not provided [RCV003225468]	Chr1:1520589 [GRCh38] Chr1:1455969 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.817C>T (p.Arg273Cys)	single nucleotide variant	Inborn genetic diseases [RCV004963613]\|not provided [RCV003324901]	Chr1:1522810 [GRCh38] Chr1:1458190 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.527G>A (p.Arg176Gln)	single nucleotide variant	Harel-Yoon syndrome [RCV003338934]\|Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV003341570]	Chr1:1520153 [GRCh38] Chr1:1455533 [GRCh37] Chr1:1p36.33	benign
NM_001170535.3(ATAD3A):c.1228G>A (p.Val410Met)	single nucleotide variant	Inborn genetic diseases [RCV003341282]	Chr1:1525253 [GRCh38] Chr1:1460633 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1347G>A (p.Leu449=)	single nucleotide variant	not provided [RCV003334092]	Chr1:1527704 [GRCh38] Chr1:1463084 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.37G>A (p.Gly13Ser)	single nucleotide variant	Inborn genetic diseases [RCV003360106]	Chr1:1512305 [GRCh38] Chr1:1447685 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1025G>T (p.Arg342Leu)	single nucleotide variant	Inborn genetic diseases [RCV003367287]	Chr1:1523900 [GRCh38] Chr1:1459280 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	copy number gain	Trisomy 12p [RCV003447845]	Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1	pathogenic
NM_001170535.3(ATAD3A):c.1690C>G (p.Gln564Glu)	single nucleotide variant	Inborn genetic diseases [RCV003352339]	Chr1:1534001 [GRCh38] Chr1:1469381 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.427G>T (p.Asp143Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003362110]	Chr1:1517758 [GRCh38] Chr1:1453138 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.598G>A (p.Glu200Lys)	single nucleotide variant	Inborn genetic diseases [RCV003350548]	Chr1:1520224 [GRCh38] Chr1:1455604 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1680_1682delinsCTT (p.Ala561Phe)	indel	Harel-Yoon syndrome [RCV003445430]	Chr1:1533991..1533993 [GRCh38] Chr1:1469371..1469373 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1213G>A (p.Gly405Ser)	single nucleotide variant	Inborn genetic diseases [RCV003368580]	Chr1:1524396 [GRCh38] Chr1:1459776 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.326G>A (p.Arg109Gln)	single nucleotide variant	Inborn genetic diseases [RCV003351044]	Chr1:1517354 [GRCh38] Chr1:1452734 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1651G>C (p.Glu551Gln)	single nucleotide variant	Inborn genetic diseases [RCV003366269]\|not provided [RCV004593275]	Chr1:1533962 [GRCh38] Chr1:1469342 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.730T>C (p.Trp244Arg)	single nucleotide variant	not provided [RCV003456626]	Chr1:1520597 [GRCh38] Chr1:1455977 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.1639G>C (p.Gly547Arg)	single nucleotide variant	Harel-Yoon syndrome [RCV003447826]	Chr1:1533950 [GRCh38] Chr1:1469330 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	copy number loss	not provided [RCV003482961]	Chr1:849467..9627901 [GRCh37] Chr1:1p36.33-36.22	pathogenic
NC_000001.11:g.1509223G>A	single nucleotide variant	not provided [RCV003412621]	Chr1:1509223 [GRCh38] Chr1:1444603 [GRCh37] Chr1:1p36.33	likely benign
GRCh37/hg19 1p36.33-36.32(chr1:1089596-2607016)x3	copy number gain	not provided [RCV003483999]	Chr1:1089596..2607016 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:1182855-2431925)x1	copy number loss	not provided [RCV003482994]	Chr1:1182855..2431925 [GRCh37] Chr1:1p36.33-36.32	likely pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:1129319-3615916)x3	copy number gain	not provided [RCV003484001]	Chr1:1129319..3615916 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33(chr1:1138880-1647481)x3	copy number gain	not provided [RCV003484002]	Chr1:1138880..1647481 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_1447541)_(1447854_1451391)del	deletion	Harel-Yoon syndrome [RCV003479738]	Chr1:1447541..1447854 [GRCh37] Chr1:1p36.33	pathogenic
GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	copy number loss	not provided [RCV003482983]	Chr1:849467..3500877 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_001170535.3(ATAD3A):c.1558C>T (p.Arg520Trp)	single nucleotide variant	not provided [RCV004810199]	Chr1:1529275 [GRCh38] Chr1:1464655 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.950G>C (p.Gly317Ala)	single nucleotide variant	not provided [RCV003442533]	Chr1:1523554 [GRCh38] Chr1:1458934 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1430G>T (p.Gly477Val)	single nucleotide variant	not provided [RCV003442584]	Chr1:1527787 [GRCh38] Chr1:1463167 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1589T>A (p.Ile530Asn)	single nucleotide variant	Harel-Yoon syndrome [RCV004790100]	Chr1:1529306 [GRCh38] Chr1:1464686 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.39T>A (p.Gly13=)	single nucleotide variant	not provided [RCV003412622]	Chr1:1512307 [GRCh38] Chr1:1447687 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.283-45G>A	single nucleotide variant	Harel-Yoon syndrome [RCV004723308]\|Inborn genetic diseases [RCV004364472]\|not provided [RCV003412623]	Chr1:1517266 [GRCh38] Chr1:1452646 [GRCh37] Chr1:1p36.33	likely benign\|uncertain significance
NM_001170535.3(ATAD3A):c.330G>A (p.Ala110=)	single nucleotide variant	not provided [RCV003412624]	Chr1:1517358 [GRCh38] Chr1:1452738 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.414G>A (p.Arg138=)	single nucleotide variant	not provided [RCV003412625]	Chr1:1517745 [GRCh38] Chr1:1453125 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.492G>A (p.Gln164=)	single nucleotide variant	not provided [RCV003412626]	Chr1:1518968 [GRCh38] Chr1:1454348 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.551A>G (p.Asn184Ser)	single nucleotide variant	Inborn genetic diseases [RCV004961298]\|not provided [RCV003412627]	Chr1:1520177 [GRCh38] Chr1:1455557 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.639G>C (p.Leu213=)	single nucleotide variant	not provided [RCV003412628]	Chr1:1520265 [GRCh38] Chr1:1455645 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.738A>C (p.Lys246Asn)	single nucleotide variant	not provided [RCV003412629]	Chr1:1520605 [GRCh38] Chr1:1455985 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.785A>T (p.Tyr262Phe)	single nucleotide variant	not provided [RCV003412630]	Chr1:1522778 [GRCh38] Chr1:1458158 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.845C>T (p.Pro282Leu)	single nucleotide variant	not provided [RCV003412631]	Chr1:1522838 [GRCh38] Chr1:1458218 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.875C>T (p.Thr292Met)	single nucleotide variant	not provided [RCV003412632]	Chr1:1522868 [GRCh38] Chr1:1458248 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.907-5G>A	single nucleotide variant	not provided [RCV003412633]	Chr1:1523506 [GRCh38] Chr1:1458886 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.1005A>C (p.Thr335=)	single nucleotide variant	not provided [RCV003412634]	Chr1:1523880 [GRCh38] Chr1:1459260 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.1014C>T (p.Thr338=)	single nucleotide variant	not provided [RCV003412635]	Chr1:1523889 [GRCh38] Chr1:1459269 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.1041C>T (p.Asn347=)	single nucleotide variant	not provided [RCV003412636]	Chr1:1523916 [GRCh38] Chr1:1459296 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.1053C>T (p.Tyr351=)	single nucleotide variant	not provided [RCV003412637]	Chr1:1523928 [GRCh38] Chr1:1459308 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.1114G>T (p.Asp372Tyr)	single nucleotide variant	not provided [RCV003412638]	Chr1:1524297 [GRCh38] Chr1:1459677 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1170C>T (p.Thr390=)	single nucleotide variant	not provided [RCV003412639]	Chr1:1524353 [GRCh38] Chr1:1459733 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.1488G>A (p.Pro496=)	single nucleotide variant	not provided [RCV003412640]	Chr1:1527845 [GRCh38] Chr1:1463225 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.1588A>G (p.Ile530Val)	single nucleotide variant	Harel-Yoon syndrome [RCV004723309]\|Inborn genetic diseases [RCV004364473]\|not provided [RCV003412641]	Chr1:1529305 [GRCh38] Chr1:1464685 [GRCh37] Chr1:1p36.33	likely benign\|uncertain significance
NM_001170535.3(ATAD3A):c.1597C>G (p.Leu533Val)	single nucleotide variant	not provided [RCV003412642]	Chr1:1529314 [GRCh38] Chr1:1464694 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1623G>A (p.Ala541=)	single nucleotide variant	not provided [RCV003412643]	Chr1:1533934 [GRCh38] Chr1:1469314 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.1650C>T (p.Thr550=)	single nucleotide variant	not provided [RCV003412644]	Chr1:1533961 [GRCh38] Chr1:1469341 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.1671C>T (p.Arg557=)	single nucleotide variant	not provided [RCV003412645]	Chr1:1533982 [GRCh38] Chr1:1469362 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.1698G>A (p.Gln566=)	single nucleotide variant	not provided [RCV003412646]	Chr1:1534009 [GRCh38] Chr1:1469389 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.1721C>T (p.Ala574Val)	single nucleotide variant	not provided [RCV003412647]	Chr1:1534032 [GRCh38] Chr1:1469412 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.958C>T (p.Leu320Phe)	single nucleotide variant	not provided [RCV003441325]	Chr1:1523562 [GRCh38] Chr1:1458942 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.906+6A>G	single nucleotide variant	not specified [RCV003489141]	Chr1:1522905 [GRCh38] Chr1:1458285 [GRCh37] Chr1:1p36.33	benign
NM_001170535.3(ATAD3A):c.1090-71G>A	single nucleotide variant	not specified [RCV003489154]	Chr1:1524202 [GRCh38] Chr1:1459582 [GRCh37] Chr1:1p36.33	benign
NM_001170535.3(ATAD3A):c.751-51A>G	single nucleotide variant	not specified [RCV003489205]	Chr1:1522693 [GRCh38] Chr1:1458073 [GRCh37] Chr1:1p36.33	benign
NM_001170535.3(ATAD3A):c.282+22G>A	single nucleotide variant	not specified [RCV003489173]	Chr1:1516110 [GRCh38] Chr1:1451490 [GRCh37] Chr1:1p36.33	benign
NM_001170535.3(ATAD3A):c.1615-17G>C	single nucleotide variant	not specified [RCV003489032]	Chr1:1533909 [GRCh38] Chr1:1469289 [GRCh37] Chr1:1p36.33	benign
NM_001170535.3(ATAD3A):c.108G>C (p.Gly36=)	single nucleotide variant	not specified [RCV003489094]	Chr1:1512376 [GRCh38] Chr1:1447756 [GRCh37] Chr1:1p36.33	benign
NM_001170535.3(ATAD3A):c.248A>G (p.Gln83Arg)	single nucleotide variant	not provided [RCV003577007]	Chr1:1516054 [GRCh38] Chr1:1451434 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.282+21T>C	single nucleotide variant	not specified [RCV003489172]	Chr1:1516109 [GRCh38] Chr1:1451489 [GRCh37] Chr1:1p36.33	benign
NM_001170535.3(ATAD3A):c.1316G>C (p.Arg439Pro)	single nucleotide variant	not provided [RCV004812184]	Chr1:1526510 [GRCh38] Chr1:1461890 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.966C>T (p.Pro322=)	single nucleotide variant	not provided [RCV004585378]	Chr1:1523841 [GRCh38] Chr1:1459221 [GRCh37] Chr1:1p36.33	likely benign
GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	copy number gain	not specified [RCV003986984]	Chr1:849466..4529103 [GRCh37] Chr1:1p36.33-36.32	pathogenic
GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	copy number loss	not specified [RCV003986962]	Chr1:849466..8966102 [GRCh37] Chr1:1p36.33-36.23	pathogenic
NM_001170535.3(ATAD3A):c.1225T>C (p.Phe409Leu)	single nucleotide variant	Inborn genetic diseases [RCV004423077]	Chr1:1525250 [GRCh38] Chr1:1460630 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.144C>G (p.Ser48Arg)	single nucleotide variant	Inborn genetic diseases [RCV004423079]	Chr1:1512412 [GRCh38] Chr1:1447792 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.28G>A (p.Gly10Ser)	single nucleotide variant	Inborn genetic diseases [RCV004423085]	Chr1:1512296 [GRCh38] Chr1:1447676 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.283-81G>A	single nucleotide variant	Inborn genetic diseases [RCV004423086]\|not provided [RCV004721805]	Chr1:1517230 [GRCh38] Chr1:1452610 [GRCh37] Chr1:1p36.33	likely benign\|uncertain significance
NM_001170535.3(ATAD3A):c.387G>C (p.Arg129Ser)	single nucleotide variant	Inborn genetic diseases [RCV004423090]	Chr1:1517718 [GRCh38] Chr1:1453098 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.581G>A (p.Arg194Gln)	single nucleotide variant	Inborn genetic diseases [RCV004423091]	Chr1:1520207 [GRCh38] Chr1:1455587 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.413G>A (p.Arg138Gln)	single nucleotide variant	not provided [RCV003993042]	Chr1:1517744 [GRCh38] Chr1:1453124 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1084G>A (p.Ala362Thr)	single nucleotide variant	Inborn genetic diseases [RCV004423075]	Chr1:1523959 [GRCh38] Chr1:1459339 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1205G>A (p.Ser402Asn)	single nucleotide variant	Inborn genetic diseases [RCV004423076]	Chr1:1524388 [GRCh38] Chr1:1459768 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1259G>A (p.Arg420Gln)	single nucleotide variant	Inborn genetic diseases [RCV004423078]	Chr1:1525284 [GRCh38] Chr1:1460664 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1588A>T (p.Ile530Phe)	single nucleotide variant	Inborn genetic diseases [RCV004423081]	Chr1:1529305 [GRCh38] Chr1:1464685 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.269A>G (p.Gln90Arg)	single nucleotide variant	Inborn genetic diseases [RCV004423084]	Chr1:1516075 [GRCh38] Chr1:1451455 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.623G>A (p.Arg208His)	single nucleotide variant	Inborn genetic diseases [RCV004423092]	Chr1:1520249 [GRCh38] Chr1:1455629 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1706T>C (p.Met569Thr)	single nucleotide variant	Inborn genetic diseases [RCV004423083]	Chr1:1534017 [GRCh38] Chr1:1469397 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1316G>A (p.Arg439His)	single nucleotide variant	Inborn genetic diseases [RCV004423080]	Chr1:1526510 [GRCh38] Chr1:1461890 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.179A>T (p.Lys60Met)	single nucleotide variant	Inborn genetic diseases [RCV004423082]	Chr1:1512447 [GRCh38] Chr1:1447827 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.329C>T (p.Ala110Val)	single nucleotide variant	Inborn genetic diseases [RCV004423089]	Chr1:1517357 [GRCh38] Chr1:1452737 [GRCh37] Chr1:1p36.33	likely benign
GRCh37/hg19 1p36.33(chr1:1469306-1469452)x3	copy number gain	not provided [RCV003887787]	Chr1:1469306..1469452 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.979C>T (p.Arg327Trp)	single nucleotide variant	Inborn genetic diseases [RCV004423073]	Chr1:1523854 [GRCh38] Chr1:1459234 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.980G>A (p.Arg327Gln)	single nucleotide variant	Inborn genetic diseases [RCV004423074]	Chr1:1523855 [GRCh38] Chr1:1459235 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_1447541)_(1454371_1455520)del	deletion	Harel-Yoon syndrome [RCV003995006]	Chr1:1447541..1454371 [GRCh37] Chr1:1p36.33	pathogenic
GRCh38/hg38 1p36.33(chr1:1482000-1519400)	copy number loss	Harel-Yoon syndrome [RCV004555168]	Chr1:1482000..1519400 [GRCh38] Chr1:1p36.33	likely pathogenic
NM_001170535.3(ATAD3A):c.1197C>G (p.Ala399=)	single nucleotide variant	not provided [RCV004599021]	Chr1:1524380 [GRCh38] Chr1:1459760 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.207_213delinsCCATGTCA (p.Tyr70fs)	indel	Harel-Yoon syndrome [RCV004555171]	Chr1:1516013..1516019 [GRCh38] Chr1:1451393..1451399 [GRCh37] Chr1:1p36.33	likely pathogenic
NC_000001.10:g.(?_1284256)_(1475190_?)dup	duplication	not provided [RCV004579075]	Chr1:1284256..1475190 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1416C>G (p.His472Gln)	single nucleotide variant	not provided [RCV004575908]	Chr1:1527773 [GRCh38] Chr1:1463153 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.906+4G>C	single nucleotide variant	not specified [RCV004701126]	Chr1:1522903 [GRCh38] Chr1:1458283 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1039A>C (p.Asn347His)	single nucleotide variant	Inborn genetic diseases [RCV004674721]	Chr1:1523914 [GRCh38] Chr1:1459294 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.448C>T (p.Leu150Phe)	single nucleotide variant	Inborn genetic diseases [RCV004674737]	Chr1:1518924 [GRCh38] Chr1:1454304 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1000G>T (p.Ala334Ser)	single nucleotide variant	not provided [RCV004698325]	Chr1:1523875 [GRCh38] Chr1:1459255 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1669C>T (p.Arg557Cys)	single nucleotide variant	not provided [RCV004698327]	Chr1:1533980 [GRCh38] Chr1:1469360 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.128C>A (p.Pro43His)	single nucleotide variant	Inborn genetic diseases [RCV004674745]	Chr1:1512396 [GRCh38] Chr1:1447776 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1669C>G (p.Arg557Gly)	single nucleotide variant	Inborn genetic diseases [RCV004674752]	Chr1:1533980 [GRCh38] Chr1:1469360 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.548A>G (p.Lys183Arg)	single nucleotide variant	Inborn genetic diseases [RCV004674774]	Chr1:1520174 [GRCh38] Chr1:1455554 [GRCh37] Chr1:1p36.33	uncertain significance
NC_000001.10:g.(?_1146935)_(3768971_?)del	deletion	Shprintzen-Goldberg syndrome [RCV004584004]	Chr1:1146935..3768971 [GRCh37] Chr1:1p36.33-36.32	uncertain significance
NM_001170535.3(ATAD3A):c.724A>G (p.Thr242Ala)	single nucleotide variant	Inborn genetic diseases [RCV004674765]	Chr1:1520591 [GRCh38] Chr1:1455971 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.283-12T>C	single nucleotide variant	Inborn genetic diseases [RCV004674730]	Chr1:1517299 [GRCh38] Chr1:1452679 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1111A>T (p.Met371Leu)	single nucleotide variant	Inborn genetic diseases [RCV004674757]	Chr1:1524294 [GRCh38] Chr1:1459674 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.803C>T (p.Thr268Met)	single nucleotide variant	not provided [RCV004811852]	Chr1:1522796 [GRCh38] Chr1:1458176 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.574_591dup (p.Glu192_Ala197dup)	duplication	Harel-Yoon syndrome [RCV004793525]	Chr1:1520196..1520197 [GRCh38] Chr1:1455576..1455577 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.750+10C>T	single nucleotide variant	not specified [RCV004800086]	Chr1:1520627 [GRCh38] Chr1:1456007 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.683C>T (p.Thr228Met)	single nucleotide variant	not provided [RCV004764229]		uncertain significance
NM_001170535.3(ATAD3A):c.1315C>T (p.Arg439Cys)	single nucleotide variant	Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal [RCV004764420]	Chr1:1526509 [GRCh38] Chr1:1461889 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1465T>G (p.Phe489Val)	single nucleotide variant	Harel-Yoon syndrome [RCV004759504]		uncertain significance
NM_001170535.3(ATAD3A):c.1687C>T (p.Gln563Ter)	single nucleotide variant	not provided [RCV004769923]	Chr1:1533998 [GRCh38] Chr1:1469378 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.370C>T (p.Arg124Trp)	single nucleotide variant	not provided [RCV004762437]		uncertain significance
NM_001170535.3(ATAD3A):c.1322G>A (p.Gly441Asp)	single nucleotide variant	Harel-Yoon syndrome [RCV004790031]	Chr1:1526516 [GRCh38] Chr1:1461896 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1338G>C (p.Lys446Asn)	single nucleotide variant	not provided [RCV004766052]	Chr1:1527695 [GRCh38] Chr1:1463075 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.220G>A (p.Ala74Thr)	single nucleotide variant	not provided [RCV005052650]	Chr1:1516026 [GRCh38] Chr1:1451406 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1113G>A (p.Met371Ile)	single nucleotide variant	Inborn genetic diseases [RCV004957721]	Chr1:1524296 [GRCh38] Chr1:1459676 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1381T>C (p.Trp461Arg)	single nucleotide variant	Inborn genetic diseases [RCV004957697]	Chr1:1527738 [GRCh38] Chr1:1463118 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1420G>A (p.Asp474Asn)	single nucleotide variant	Inborn genetic diseases [RCV004957703]	Chr1:1527777 [GRCh38] Chr1:1463157 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.206-9C>A	single nucleotide variant	not provided [RCV005052649]	Chr1:1516003 [GRCh38] Chr1:1451383 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.832C>T (p.Arg278Trp)	single nucleotide variant	Inborn genetic diseases [RCV004957706]	Chr1:1522825 [GRCh38] Chr1:1458205 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.652C>T (p.His218Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004957708]	Chr1:1520278 [GRCh38] Chr1:1455658 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1253G>A (p.Arg418Gln)	single nucleotide variant	Inborn genetic diseases [RCV004957709]	Chr1:1525278 [GRCh38] Chr1:1460658 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1382G>T (p.Trp461Leu)	single nucleotide variant	Inborn genetic diseases [RCV004971131]	Chr1:1527739 [GRCh38] Chr1:1463119 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1258C>G (p.Arg420Gly)	single nucleotide variant	Inborn genetic diseases [RCV004971135]	Chr1:1525283 [GRCh38] Chr1:1460663 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1549G>A (p.Glu517Lys)	single nucleotide variant	Inborn genetic diseases [RCV004957715]	Chr1:1529266 [GRCh38] Chr1:1464646 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1354G>A (p.Ala452Thr)	single nucleotide variant	not provided [RCV004823615]	Chr1:1527711 [GRCh38] Chr1:1463091 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1334A>G (p.Asn445Ser)	single nucleotide variant	Inborn genetic diseases [RCV004957748]	Chr1:1526528 [GRCh38] Chr1:1461908 [GRCh37] Chr1:1p36.33	likely benign
NM_001170535.3(ATAD3A):c.283-86G>A	single nucleotide variant	Inborn genetic diseases [RCV004957707]	Chr1:1517225 [GRCh38] Chr1:1452605 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.425A>G (p.Glu142Gly)	single nucleotide variant	Inborn genetic diseases [RCV004957729]	Chr1:1517756 [GRCh38] Chr1:1453136 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.1658T>C (p.Met553Thr)	single nucleotide variant	Inborn genetic diseases [RCV004957743]	Chr1:1533969 [GRCh38] Chr1:1469349 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.344G>C (p.Arg115Thr)	single nucleotide variant	not provided [RCV005001840]	Chr1:1517372 [GRCh38] Chr1:1452752 [GRCh37] Chr1:1p36.33	uncertain significance
GRCh37/hg19 1p36.33-36.32(chr1:849467-3153423)x3	copy number gain	not provided [RCV004819296]	Chr1:849467..3153423 [GRCh37] Chr1:1p36.33-36.32	pathogenic
NM_001170535.3(ATAD3A):c.1316G>T (p.Arg439Leu)	single nucleotide variant	Inborn genetic diseases [RCV004971136]	Chr1:1526510 [GRCh38] Chr1:1461890 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.902T>C (p.Ile301Thr)	single nucleotide variant	Inborn genetic diseases [RCV004971139]	Chr1:1522895 [GRCh38] Chr1:1458275 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.283-110T>G	single nucleotide variant	Inborn genetic diseases [RCV004971156]	Chr1:1517201 [GRCh38] Chr1:1452581 [GRCh37] Chr1:1p36.33	uncertain significance
NM_001170535.3(ATAD3A):c.278T>C (p.Leu93Pro)	single nucleotide variant	ATAD3A deficiency [RCV005002061]	Chr1:1516084 [GRCh38] Chr1:1451464 [GRCh37] Chr1:1p36.33	likely pathogenic
NM_001170535.3(ATAD3A):c.178_179inv (p.Lys60Leu)	inversion	not provided [RCV005205831]	Chr1:1512446..1512447 [GRCh38] Chr1:1447826..1447827 [GRCh37] Chr1:1p36.33	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	3080
Count of miRNA genes:	757
Interacting mature miRNAs:	895
Transcripts:	ENST00000339113, ENST00000378755, ENST00000378756, ENST00000400830, ENST00000429957, ENST00000439513, ENST00000536055
Prediction methods:	Miranda, Rnahybrid
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
1298451	OSTEAR17_H	Osteoarthritis QTL 17 (human)	2.4	0.0004	Joint/bone inflammation	osteoarthritis	11	1	25188105	Human
597122647	GWAS1218721_H	blood protein measurement QTL GWAS1218721 (human)		2e-68	blood protein amount (VT:0005416)	blood protein measurement (CMO:0000028)	1	1527099	1527100	Human
597167576	GWAS1263650_H	attempted suicide QTL GWAS1263650 (human)		0.0000006	attempted suicide		1	1533944	1533945	Human
596972710	GWAS1092229_H	attempted suicide QTL GWAS1092229 (human)		0.0000006	attempted suicide		1	1533944	1533945	Human
1298463	BP9_H	Blood pressure QTL 9 (human)	3.9		Blood pressure	hypertension susceptibility	1	1	25188105	Human

ATAD3B_8108

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	1,431,083 - 1,431,706	UniSTS	GRCh37
GRCh37	1	1,469,524 - 1,470,189	UniSTS	GRCh37
Build 36	1	1,420,946 - 1,421,569	RGD	NCBI36
Celera	1	1,147,516 - 1,148,139	UniSTS
Celera	1	1,110,254 - 1,110,919	RGD
HuRef	1	704,802 - 705,425	UniSTS
HuRef	1	743,121 - 743,786	UniSTS

D1S3674

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	1,410,914 - 1,411,021	UniSTS	GRCh37
GRCh37	1	1,449,270 - 1,449,375	UniSTS	GRCh37
Build 36	1	1,400,777 - 1,400,884	RGD	NCBI36
Celera	1	1,168,334 - 1,168,441	UniSTS
Celera	1	1,131,068 - 1,131,173	RGD
HuRef	1	684,500 - 684,607	UniSTS
HuRef	1	722,558 - 722,663	UniSTS

SHGC-74117

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	1,469,914 - 1,470,061	UniSTS	GRCh37
Build 36	1	1,459,777 - 1,459,924	RGD	NCBI36
Celera	1	1,110,382 - 1,110,529	RGD
Cytogenetic Map	1	p36.33	UniSTS
HuRef	1	743,511 - 743,658	UniSTS
TNG Radiation Hybrid Map	1	76149.0	UniSTS
GeneMap99-GB4 RH Map	1	15.89	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	1948	465	2270	7303	6469	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NG_053035	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001170535	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001170536	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_018188	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024448098	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047424288	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047424289	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047424290	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337419	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337420	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054337421	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001737282	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002956997	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK001571	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025865	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK056099	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK091144	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK092833	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK310572	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL645728	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007803	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC011814	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC014101	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC033109	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC063607	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471183	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA206969	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GU189416	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000339113 ⟹ ENSP00000339421

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	1,512,385 - 1,534,613 (+)	Ensembl

Ensembl Acc Id:

ENST00000378755 ⟹ ENSP00000368030

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	1,512,175 - 1,534,685 (+)	Ensembl

Ensembl Acc Id:

ENST00000378756 ⟹ ENSP00000368031

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	1,512,162 - 1,534,685 (+)	Ensembl

Ensembl Acc Id:

ENST00000400830 ⟹ ENSP00000383631

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	1,523,955 - 1,534,142 (+)	Ensembl

Ensembl Acc Id:

ENST00000429957

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	1,517,621 - 1,522,780 (+)	Ensembl

Ensembl Acc Id:

ENST00000439513

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	1,517,070 - 1,517,775 (+)	Ensembl

Ensembl Acc Id:

ENST00000536055 ⟹ ENSP00000439290

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	1,512,530 - 1,534,685 (+)	Ensembl

Ensembl Acc Id:

ENST00000672388

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	1,512,165 - 1,534,584 (+)	Ensembl

RefSeq Acc Id:

NM_001170535 ⟹ NP_001164006

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	1,512,162 - 1,534,685 (+)	NCBI
GRCh37	1	1,447,523 - 1,470,067 (+)	ENTREZGENE
HuRef	1	720,811 - 743,664 (+)	ENTREZGENE
CHM1_1	1	1,434,817 - 1,457,345 (+)	NCBI
T2T-CHM13v2.0	1	946,666 - 969,189 (+)	NCBI

Sequence:

show sequence

AGTGGCGGTGACCACCGGCTCGCGGCGCGTGGAGGCTGCTCCCAGCCGCGCGCGAGTCAGACTCGGGTGGGGGTCCCGGCGGCGGTAGCGGCGGCGGCGGTGCGAGCATGTCGTGGCTCTTCGGCATT
AACAAGGGCCCCAAGGGTGAAGGCGCGGGGCCGCCGCCGCCTTTGCCGCCCGCGCAGCCCGGGGCCGAGGGCGGCGGGGACCGCGGGTTGGGAGACCGGCCGGCGCCCAAGGACAAATGGAGCAACTT
CGACCCCACCGGCCTGGAGCGCGCCGCCAAGGCGGCGCGCGAGCTGGAGCACTCGCGTTATGCCAAGGACGCCCTGAATCTGGCACAGATGCAGGAGCAGACGCTGCAGTTGGAGCAACAGTCCAAGC
TCAAAGAGTATGAGGCCGCCGTGGAGCAGCTCAAGAGCGAGCAGATCCGGGCGCAGGCTGAGGAGAGGAGGAAGACCCTGAGCGAGGAGACCCGGCAGCACCAGGCCAGGGCCCAGTATCAAGACAAG
CTGGCCCGGCAGCGCTACGAGGACCAACTGAAGCAGCAGCAACTTCTCAATGAGGAGAATTTACGGAAGCAGGAGGAGTCCGTGCAGAAGCAGGAAGCCATGCGGCGAGCCACCGTGGAGCGGGAGAT
GGAGCTGCGGCACAAGAATGAGATGCTGCGAGTGGAGGCCGAGGCCCGGGCGCGCGCCAAGGCCGAGCGGGAGAATGCAGACATCATCCGCGAGCAGATCCGCCTGAAGGCGGCCGAGCACCGTCAGA
CCGTCTTGGAGTCCATCAGGACGGCTGGCACCTTGTTTGGGGAAGGATTCCGTGCCTTTGTGACAGACTGGGACAAAGTGACAGCCACGGTGGCTGGGCTGACGCTGCTGGCTGTTGGGGTCTACTCA
GCCAAGAATGCCACGCTTGTCGCCGGCCGCTTCATCGAGGCTCGGCTGGGGAAGCCGTCCCTAGTGAGGGAGACGTCCCGCATCACGGTGCTTGAGGCGCTGCGGCACCCCATCCAGGTCAGCCGGCG
GCTCCTCAGTCGACCCCAGGACGCGCTGGAGGGTGTTGTGCTCAGTCCCAGCCTGGAAGCACGGGTGCGCGACATCGCCATAGCAACAAGGAACACCAAGAAGAACCGCAGCCTGTACAGGAACATCC
TGATGTACGGGCCACCAGGCACCGGGAAGACGCTGTTTGCCAAGAAACTCGCCCTGCACTCAGGCATGGACTACGCCATCATGACAGGCGGGGACGTGGCCCCCATGGGGCGGGAAGGCGTGACCGCC
ATGCACAAGCTCTTTGACTGGGCCAATACCAGCCGGCGCGGCCTCCTGCTCTTTGTGGATGAAGCGGACGCCTTCCTTCGGAAGCGAGCCACCGAGAAGATAAGCGAGGACCTCAGGGCCACACTGAA
CGCCTTCCTGTACCGCACGGGCCAGCACAGCAACAAGTTCATGCTGGTCCTGGCCAGCAACCAACCAGAGCAGTTCGACTGGGCCATCAATGACCGCATCAATGAGATGGTCCACTTCGACCTGCCAG
GGCAGGAGGAACGGGAGCGCCTGGTGAGAATGTATTTTGACAAGTATGTTCTTAAGCCGGCCACAGAAGGAAAGCAGCGCCTGAAGCTGGCCCAGTTTGACTACGGGAGGAAGTGCTCGGAGGTCGCT
CGGCTGACGGAGGGCATGTCGGGCCGGGAGATCGCTCAGCTGGCCGTGTCCTGGCAGGCCACGGCGTATGCCTCCGAGGACGGGGTCCTGACCGAGGCCATGATGGACACCCGCGTGCAAGATGCTGT
CCAGCAGCACCAGCAGAAGATGTGCTGGCTGAAGGCGGAAGGGCCTGGGCGTGGGGACGAGCCCTCCCCATCCTGAGTCCACAGGGAGATCCACAGCTCACGGAGCCTGGCCGCGGACCCCTCCCACC
CCTGCCTTGCCGGCCCCTGCACATTTAGGATATGCTCCTGGGTGGGGACTGGGCTGTGCCCAGGGCCTCTGTCCCCCAGGATGTCTTGTGGTGCGGGTCGGCCGTTCTGCCCCCCAGGGCACCCCCTG
TTGTAGGCACTGGCTAGGGAGGGGCAGGCCTCCTTCCTGCCCCTCGAGACACTCTTGGGAGATGCATTTTCCGTCTGGCTCACAGGGGGAGGGTGAGGCTTTGCACCCCAGCCCCTGCCCAGGCCACT
GTGAGGGTGGGTGCTGGCTGAGCCCCCGGGGCAGCAGGAGCCAGGCAGGTGATGTCTTTGTTCTCGGCTCCCACAGCAGAGCCAGGTGAGGGGGCGCCTGCCAGGGCCAGACCCAGGTGGGGCAGCCT
GAACCCTGCTTCCCCCTGTGGCCGGCATGCCCCGATCTTTCACACACTGGTGACCCTGAGAGAGGAGGGAGGAGGGAACCTGGCGGGGGTGTCTGAGGCCGCACTGTCAGCTGGCCGGTCCAAGCCTG
TGGCTGGAGCTGGGGTCTGTTTACCTAATAAAGTCCCACAGGTGCCTCA

hide sequence

RefSeq Acc Id:

NM_001170536 ⟹ NP_001164007

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	1,512,530 - 1,534,685 (+)	NCBI
GRCh37	1	1,447,523 - 1,470,067 (+)	ENTREZGENE
HuRef	1	720,811 - 743,664 (+)	ENTREZGENE
CHM1_1	1	1,435,204 - 1,457,345 (+)	NCBI
T2T-CHM13v2.0	1	947,034 - 969,189 (+)	NCBI

Sequence:

show sequence

GGGAGCCCTGGCCCTTGCCGCTCCTCGCCGCTGTCGGCAGCCACTTCCCGGGCGAGACTGCGCC
CCCGGAGCACCCCCGGCCGGAGCCGTGTCGCGTGCCGGGAGGATCGGACTCTTTCCGTCACCCGTTTGCACCTCTGCAGCTGTCAGGAGCGGGTCAGGTTATGCCAAGGACGCCCTGAATCTGGCACA
GATGCAGGAGCAGACGCTGCAGTTGGAGCAACAGTCCAAGCTCAAAGAGTATGAGGCCGCCGTGGAGCAGCTCAAGAGCGAGCAGATCCGGGCGCAGGCTGAGGAGAGGAGGAAGACCCTGAGCGAGG
AGACCCGGCAGCACCAGGCCAGGGCCCAGTATCAAGACAAGCTGGCCCGGCAGCGCTACGAGGACCAACTGAAGCAGCAGCAACTTCTCAATGAGGAGAATTTACGGAAGCAGGAGGAGTCCGTGCAG
AAGCAGGAAGCCATGCGGCGAGCCACCGTGGAGCGGGAGATGGAGCTGCGGCACAAGAATGAGATGCTGCGAGTGGAGGCCGAGGCCCGGGCGCGCGCCAAGGCCGAGCGGGAGAATGCAGACATCAT
CCGCGAGCAGATCCGCCTGAAGGCGGCCGAGCACCGTCAGACCGTCTTGGAGTCCATCAGGACGGCTGGCACCTTGTTTGGGGAAGGATTCCGTGCCTTTGTGACAGACTGGGACAAAGTGACAGCCA
CGGTGGCTGGGCTGACGCTGCTGGCTGTTGGGGTCTACTCAGCCAAGAATGCCACGCTTGTCGCCGGCCGCTTCATCGAGGCTCGGCTGGGGAAGCCGTCCCTAGTGAGGGAGACGTCCCGCATCACG
GTGCTTGAGGCGCTGCGGCACCCCATCCAGGTCAGCCGGCGGCTCCTCAGTCGACCCCAGGACGCGCTGGAGGGTGTTGTGCTCAGTCCCAGCCTGGAAGCACGGGTGCGCGACATCGCCATAGCAAC
AAGGAACACCAAGAAGAACCGCAGCCTGTACAGGAACATCCTGATGTACGGGCCACCAGGCACCGGGAAGACGCTGTTTGCCAAGAAACTCGCCCTGCACTCAGGCATGGACTACGCCATCATGACAG
GCGGGGACGTGGCCCCCATGGGGCGGGAAGGCGTGACCGCCATGCACAAGCTCTTTGACTGGGCCAATACCAGCCGGCGCGGCCTCCTGCTCTTTGTGGATGAAGCGGACGCCTTCCTTCGGAAGCGA
GCCACCGAGAAGATAAGCGAGGACCTCAGGGCCACACTGAACGCCTTCCTGTACCGCACGGGCCAGCACAGCAACAAGTTCATGCTGGTCCTGGCCAGCAACCAACCAGAGCAGTTCGACTGGGCCAT
CAATGACCGCATCAATGAGATGGTCCACTTCGACCTGCCAGGGCAGGAGGAACGGGAGCGCCTGGTGAGAATGTATTTTGACAAGTATGTTCTTAAGCCGGCCACAGAAGGAAAGCAGCGCCTGAAGC
TGGCCCAGTTTGACTACGGGAGGAAGTGCTCGGAGGTCGCTCGGCTGACGGAGGGCATGTCGGGCCGGGAGATCGCTCAGCTGGCCGTGTCCTGGCAGGCCACGGCGTATGCCTCCGAGGACGGGGTC
CTGACCGAGGCCATGATGGACACCCGCGTGCAAGATGCTGTCCAGCAGCACCAGCAGAAGATGTGCTGGCTGAAGGCGGAAGGGCCTGGGCGTGGGGACGAGCCCTCCCCATCCTGAGTCCACAGGGA
GATCCACAGCTCACGGAGCCTGGCCGCGGACCCCTCCCACCCCTGCCTTGCCGGCCCCTGCACATTTAGGATATGCTCCTGGGTGGGGACTGGGCTGTGCCCAGGGCCTCTGTCCCCCAGGATGTCTT
GTGGTGCGGGTCGGCCGTTCTGCCCCCCAGGGCACCCCCTGTTGTAGGCACTGGCTAGGGAGGGGCAGGCCTCCTTCCTGCCCCTCGAGACACTCTTGGGAGATGCATTTTCCGTCTGGCTCACAGGG
GGAGGGTGAGGCTTTGCACCCCAGCCCCTGCCCAGGCCACTGTGAGGGTGGGTGCTGGCTGAGCCCCCGGGGCAGCAGGAGCCAGGCAGGTGATGTCTTTGTTCTCGGCTCCCACAGCAGAGCCAGGT
GAGGGGGCGCCTGCCAGGGCCAGACCCAGGTGGGGCAGCCTGAACCCTGCTTCCCCCTGTGGCCGGCATGCCCCGATCTTTCACACACTGGTGACCCTGAGAGAGGAGGGAGGAGGGAACCTGGCGGG
GGTGTCTGAGGCCGCACTGTCAGCTGGCCGGTCCAAGCCTGTGGCTGGAGCTGGGGTCTGTTTACCTAATAAAGTCCCACAGGTGCCTCA

hide sequence

RefSeq Acc Id:

NM_018188 ⟹ NP_060658

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	1,512,162 - 1,534,685 (+)	NCBI
GRCh37	1	1,447,523 - 1,470,067 (+)	ENTREZGENE
Build 36	1	1,437,418 - 1,459,927 (+)	NCBI Archive
HuRef	1	720,811 - 743,664 (+)	ENTREZGENE
CHM1_1	1	1,434,817 - 1,457,345 (+)	NCBI
T2T-CHM13v2.0	1	946,666 - 969,189 (+)	NCBI

Sequence:

show sequence

AGTGGCGGTGACCACCGGCTCGCGGCGCGTGGAGGCTGCTCCCAGCCGCGCGCGAGTCAGACTCGGGTGGGGGTCCCGGCGGCGGTAGCGGCGGCGGCGGTGCGAGCATGTCGTGGCTCTTCGGCATT
AACAAGGGCCCCAAGGGTGAAGGCGCGGGGCCGCCGCCGCCTTTGCCGCCCGCGCAGCCCGGGGCCGAGGGCGGCGGGGACCGCGGGTTGGGAGACCGGCCGGCGCCCAAGGACAAATGGAGCAACTT
CGACCCCACCGGCCTGGAGCGCGCCGCCAAGGCGGCGCGCGAGCTGGAGCACTCGCGTTATGCCAAGGACGCCCTGAATCTGGCACAGATGCAGGAGCAGACGCTGCAGTTGGAGCAACAGTCCAAGC
TCAAAATGCGGCTGGAAGCCCTGAGCCTGCTGCACACACTAGTCTGGGCATGGAGTCTCTGCCGTGCCGGAGCCGTGCAGACACAGGAGCGGCTGTCAGGCAGTGCCAGCCCTGAGCAAGTGCCAGCT
GGTGAGTGCTGTGCTCTGCAGGAGTATGAGGCCGCCGTGGAGCAGCTCAAGAGCGAGCAGATCCGGGCGCAGGCTGAGGAGAGGAGGAAGACCCTGAGCGAGGAGACCCGGCAGCACCAGGCCAGGGC
CCAGTATCAAGACAAGCTGGCCCGGCAGCGCTACGAGGACCAACTGAAGCAGCAGCAACTTCTCAATGAGGAGAATTTACGGAAGCAGGAGGAGTCCGTGCAGAAGCAGGAAGCCATGCGGCGAGCCA
CCGTGGAGCGGGAGATGGAGCTGCGGCACAAGAATGAGATGCTGCGAGTGGAGGCCGAGGCCCGGGCGCGCGCCAAGGCCGAGCGGGAGAATGCAGACATCATCCGCGAGCAGATCCGCCTGAAGGCG
GCCGAGCACCGTCAGACCGTCTTGGAGTCCATCAGGACGGCTGGCACCTTGTTTGGGGAAGGATTCCGTGCCTTTGTGACAGACTGGGACAAAGTGACAGCCACGGTGGCTGGGCTGACGCTGCTGGC
TGTTGGGGTCTACTCAGCCAAGAATGCCACGCTTGTCGCCGGCCGCTTCATCGAGGCTCGGCTGGGGAAGCCGTCCCTAGTGAGGGAGACGTCCCGCATCACGGTGCTTGAGGCGCTGCGGCACCCCA
TCCAGGTCAGCCGGCGGCTCCTCAGTCGACCCCAGGACGCGCTGGAGGGTGTTGTGCTCAGTCCCAGCCTGGAAGCACGGGTGCGCGACATCGCCATAGCAACAAGGAACACCAAGAAGAACCGCAGC
CTGTACAGGAACATCCTGATGTACGGGCCACCAGGCACCGGGAAGACGCTGTTTGCCAAGAAACTCGCCCTGCACTCAGGCATGGACTACGCCATCATGACAGGCGGGGACGTGGCCCCCATGGGGCG
GGAAGGCGTGACCGCCATGCACAAGCTCTTTGACTGGGCCAATACCAGCCGGCGCGGCCTCCTGCTCTTTGTGGATGAAGCGGACGCCTTCCTTCGGAAGCGAGCCACCGAGAAGATAAGCGAGGACC
TCAGGGCCACACTGAACGCCTTCCTGTACCGCACGGGCCAGCACAGCAACAAGTTCATGCTGGTCCTGGCCAGCAACCAACCAGAGCAGTTCGACTGGGCCATCAATGACCGCATCAATGAGATGGTC
CACTTCGACCTGCCAGGGCAGGAGGAACGGGAGCGCCTGGTGAGAATGTATTTTGACAAGTATGTTCTTAAGCCGGCCACAGAAGGAAAGCAGCGCCTGAAGCTGGCCCAGTTTGACTACGGGAGGAA
GTGCTCGGAGGTCGCTCGGCTGACGGAGGGCATGTCGGGCCGGGAGATCGCTCAGCTGGCCGTGTCCTGGCAGGCCACGGCGTATGCCTCCGAGGACGGGGTCCTGACCGAGGCCATGATGGACACCC
GCGTGCAAGATGCTGTCCAGCAGCACCAGCAGAAGATGTGCTGGCTGAAGGCGGAAGGGCCTGGGCGTGGGGACGAGCCCTCCCCATCCTGAGTCCACAGGGAGATCCACAGCTCACGGAGCCTGGCC
GCGGACCCCTCCCACCCCTGCCTTGCCGGCCCCTGCACATTTAGGATATGCTCCTGGGTGGGGACTGGGCTGTGCCCAGGGCCTCTGTCCCCCAGGATGTCTTGTGGTGCGGGTCGGCCGTTCTGCCC
CCCAGGGCACCCCCTGTTGTAGGCACTGGCTAGGGAGGGGCAGGCCTCCTTCCTGCCCCTCGAGACACTCTTGGGAGATGCATTTTCCGTCTGGCTCACAGGGGGAGGGTGAGGCTTTGCACCCCAGC
CCCTGCCCAGGCCACTGTGAGGGTGGGTGCTGGCTGAGCCCCCGGGGCAGCAGGAGCCAGGCAGGTGATGTCTTTGTTCTCGGCTCCCACAGCAGAGCCAGGTGAGGGGGCGCCTGCCAGGGCCAGAC
CCAGGTGGGGCAGCCTGAACCCTGCTTCCCCCTGTGGCCGGCATGCCCCGATCTTTCACACACTGGTGACCCTGAGAGAGGAGGGAGGAGGGAACCTGGCGGGGGTGTCTGAGGCCGCACTGTCAGCT
GGCCGGTCCAAGCCTGTGGCTGGAGCTGGGGTCTGTTTACCTAATAAAGTCCCACAGGTGCCTCA

hide sequence

RefSeq Acc Id:

XM_047424288 ⟹ XP_047280244

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	1,512,162 - 1,534,685 (+)	NCBI

RefSeq Acc Id:

XM_047424289 ⟹ XP_047280245

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	1,512,162 - 1,529,300 (+)	NCBI

RefSeq Acc Id:

XM_047424290 ⟹ XP_047280246

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	1,512,162 - 1,527,682 (+)	NCBI

RefSeq Acc Id:

XM_054337419 ⟹ XP_054193394

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	946,666 - 969,189 (+)	NCBI

RefSeq Acc Id:

XM_054337420 ⟹ XP_054193395

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	946,666 - 963,804 (+)	NCBI

RefSeq Acc Id:

XM_054337421 ⟹ XP_054193396

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	946,666 - 962,186 (+)	NCBI


Protein RefSeqs	NP_001164006	(Get FASTA)	NCBI Sequence Viewer
	NP_001164007	(Get FASTA)	NCBI Sequence Viewer
	NP_060658	(Get FASTA)	NCBI Sequence Viewer
	XP_047280244	(Get FASTA)	NCBI Sequence Viewer
	XP_047280245	(Get FASTA)	NCBI Sequence Viewer
	XP_047280246	(Get FASTA)	NCBI Sequence Viewer
	XP_054193394	(Get FASTA)	NCBI Sequence Viewer
	XP_054193395	(Get FASTA)	NCBI Sequence Viewer
	XP_054193396	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH07803	(Get FASTA)	NCBI Sequence Viewer
	AAH11814	(Get FASTA)	NCBI Sequence Viewer
	AAH14101	(Get FASTA)	NCBI Sequence Viewer
	AAH33109	(Get FASTA)	NCBI Sequence Viewer
	AAH63607	(Get FASTA)	NCBI Sequence Viewer
	ACZ80514	(Get FASTA)	NCBI Sequence Viewer
	BAA91764	(Get FASTA)	NCBI Sequence Viewer
	BAC03595	(Get FASTA)	NCBI Sequence Viewer
	BAG51625	(Get FASTA)	NCBI Sequence Viewer
	EAW56186	(Get FASTA)	NCBI Sequence Viewer
	EAW56187	(Get FASTA)	NCBI Sequence Viewer
	EAW56188	(Get FASTA)	NCBI Sequence Viewer
	EAW56189	(Get FASTA)	NCBI Sequence Viewer
	EAW56190	(Get FASTA)	NCBI Sequence Viewer
	EAW56191	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000368030
	ENSP00000368030.5
	ENSP00000368031
	ENSP00000368031.3
	ENSP00000439290
	ENSP00000439290.1
GenBank Protein	Q9NVI7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_060658 ⟸ NM_018188
- Peptide Label:	isoform 1
- UniProtKB:	Q8N275 (UniProtKB/Swiss-Prot), Q5SV23 (UniProtKB/Swiss-Prot), G3V1I6 (UniProtKB/Swiss-Prot), D2K8Q1 (UniProtKB/Swiss-Prot), B3KPB3 (UniProtKB/Swiss-Prot), Q96A50 (UniProtKB/Swiss-Prot), Q9NVI7 (UniProtKB/Swiss-Prot), Q96T67 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSWLFGINKGPKGEGAGPPPPLPPAQPGAEGGGDRGLGDRPAPKDKWSNFDPTGLERAAKAARELEHSRYAKDALNLAQMQEQTLQLEQQSKLKMRLEALSLLHTLVWAWSLCRAGAVQTQERLSGSA SPEQVPAGECCALQEYEAAVEQLKSEQIRAQAEERRKTLSEETRQHQARAQYQDKLARQRYEDQLKQQQLLNEENLRKQEESVQKQEAMRRATVEREMELRHKNEMLRVEAEARARAKAERENADIIR EQIRLKAAEHRQTVLESIRTAGTLFGEGFRAFVTDWDKVTATVAGLTLLAVGVYSAKNATLVAGRFIEARLGKPSLVRETSRITVLEALRHPIQVSRRLLSRPQDALEGVVLSPSLEARVRDIAIATR NTKKNRSLYRNILMYGPPGTGKTLFAKKLALHSGMDYAIMTGGDVAPMGREGVTAMHKLFDWANTSRRGLLLFVDEADAFLRKRATEKISEDLRATLNAFLYRTGQHSNKFMLVLASNQPEQFDWAIN DRINEMVHFDLPGQEERERLVRMYFDKYVLKPATEGKQRLKLAQFDYGRKCSEVARLTEGMSGREIAQLAVSWQATAYASEDGVLTEAMMDTRVQDAVQQHQQKMCWLKAEGPGRGDEPSPS hide sequence

RefSeq Acc Id:	NP_001164006 ⟸ NM_001170535
- Peptide Label:	isoform 2
- UniProtKB:	Q96T67 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSWLFGINKGPKGEGAGPPPPLPPAQPGAEGGGDRGLGDRPAPKDKWSNFDPTGLERAAKAARELEHSRYAKDALNLAQMQEQTLQLEQQSKLKEYEAAVEQLKSEQIRAQAEERRKTLSEETRQHQA RAQYQDKLARQRYEDQLKQQQLLNEENLRKQEESVQKQEAMRRATVEREMELRHKNEMLRVEAEARARAKAERENADIIREQIRLKAAEHRQTVLESIRTAGTLFGEGFRAFVTDWDKVTATVAGLTL LAVGVYSAKNATLVAGRFIEARLGKPSLVRETSRITVLEALRHPIQVSRRLLSRPQDALEGVVLSPSLEARVRDIAIATRNTKKNRSLYRNILMYGPPGTGKTLFAKKLALHSGMDYAIMTGGDVAPM GREGVTAMHKLFDWANTSRRGLLLFVDEADAFLRKRATEKISEDLRATLNAFLYRTGQHSNKFMLVLASNQPEQFDWAINDRINEMVHFDLPGQEERERLVRMYFDKYVLKPATEGKQRLKLAQFDYG RKCSEVARLTEGMSGREIAQLAVSWQATAYASEDGVLTEAMMDTRVQDAVQQHQQKMCWLKAEGPGRGDEPSPS hide sequence

RefSeq Acc Id:	NP_001164007 ⟸ NM_001170536
- Peptide Label:	isoform 3
- UniProtKB:	Q96T67 (UniProtKB/TrEMBL)
- Sequence:	show sequence MQEQTLQLEQQSKLKEYEAAVEQLKSEQIRAQAEERRKTLSEETRQHQARAQYQDKLARQRYEDQLKQQQLLNEENLRKQEESVQKQEAMRRATVEREMELRHKNEMLRVEAEARARAKAERENADII REQIRLKAAEHRQTVLESIRTAGTLFGEGFRAFVTDWDKVTATVAGLTLLAVGVYSAKNATLVAGRFIEARLGKPSLVRETSRITVLEALRHPIQVSRRLLSRPQDALEGVVLSPSLEARVRDIAIAT RNTKKNRSLYRNILMYGPPGTGKTLFAKKLALHSGMDYAIMTGGDVAPMGREGVTAMHKLFDWANTSRRGLLLFVDEADAFLRKRATEKISEDLRATLNAFLYRTGQHSNKFMLVLASNQPEQFDWAI NDRINEMVHFDLPGQEERERLVRMYFDKYVLKPATEGKQRLKLAQFDYGRKCSEVARLTEGMSGREIAQLAVSWQATAYASEDGVLTEAMMDTRVQDAVQQHQQKMCWLKAEGPGRGDEPSPS hide sequence

Ensembl Acc Id:

ENSP00000383631 ⟸ ENST00000400830

Ensembl Acc Id:

ENSP00000368031 ⟸ ENST00000378756

Protein Domains

AAA+ ATPase ATPase AAA-type core ATPase family AAA

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9NVI7-F1-model_v2	AlphaFold	Q9NVI7	1-634	view protein structure

RGD ID:

6784655

Promoter ID:

HG_KWN:190

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000378759, NM_001170535, NM_001170536, NM_018188

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	1,436,811 - 1,437,311 (+)	MPROMDB

RGD ID:

6853740

Promoter ID:

EPDNEW_H35

Type:

initiation region

Name:

ATAD3A_1

Description:

ATPase family, AAA domain containing 3A

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	1	1,512,162 - 1,512,222	EPDNEW

Database	Acc Id	Source(s)
COSMIC	ATAD3A	COSMIC
Ensembl Genes	ENSG00000197785	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000378755	ENTREZGENE
	ENST00000378755.9	UniProtKB/Swiss-Prot
	ENST00000378756	ENTREZGENE
	ENST00000378756.8	UniProtKB/Swiss-Prot
	ENST00000536055	ENTREZGENE
	ENST00000536055.6	UniProtKB/Swiss-Prot
Gene3D-CATH	3.40.50.300	UniProtKB/Swiss-Prot
GTEx	ENSG00000197785	GTEx
HGNC ID	HGNC:25567	ENTREZGENE
Human Proteome Map	ATAD3A	Human Proteome Map
InterPro	AAA+_ATPase	UniProtKB/Swiss-Prot
	ATPase_AAA_core	UniProtKB/Swiss-Prot
	DUF3523	UniProtKB/Swiss-Prot
	P-loop_NTPase	UniProtKB/Swiss-Prot
KEGG Report	hsa:55210	UniProtKB/Swiss-Prot
NCBI Gene	55210	ENTREZGENE
OMIM	612316	OMIM
PANTHER	ATPASE FAMILY AAA DOMAIN-CONTAINING PROTEIN 3A	UniProtKB/Swiss-Prot
	PTHR23075	UniProtKB/Swiss-Prot
Pfam	AAA	UniProtKB/Swiss-Prot
	DUF3523	UniProtKB/Swiss-Prot
PharmGKB	PA134872099	PharmGKB
SMART	AAA	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF52540	UniProtKB/Swiss-Prot
UniProt	ATD3A_HUMAN	UniProtKB/Swiss-Prot
	B3KPB3	ENTREZGENE
	D2K8Q1	ENTREZGENE
	G3V1I6	ENTREZGENE
	H0Y2W2_HUMAN	UniProtKB/TrEMBL
	Q5SV16_HUMAN	UniProtKB/TrEMBL
	Q5SV23	ENTREZGENE
	Q8N275	ENTREZGENE
	Q96A50	ENTREZGENE
	Q96T67	ENTREZGENE, UniProtKB/TrEMBL
	Q9NVI7	ENTREZGENE
UniProt Secondary	B3KPB3	UniProtKB/Swiss-Prot
	D2K8Q1	UniProtKB/Swiss-Prot
	G3V1I6	UniProtKB/Swiss-Prot
	Q5SV23	UniProtKB/Swiss-Prot
	Q8N275	UniProtKB/Swiss-Prot
	Q96A50	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-01-22	ATAD3A	ATPase family AAA domain containing 3A	ATAD3A	ATPase family, AAA domain containing 3A	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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