GATA1 (GATA binding protein 1) - Rat Genome Database

Name: GATA1
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: GATA1 (GATA binding protein 1) Homo sapiens

Analyze

Symbol:

GATA1

Name:

GATA binding protein 1

RGD ID:

731384

HGNC Page

HGNC

Description:

Exhibits several functions, including C2H2 zinc finger domain binding activity; DNA binding activity; and DNA-binding transcription activator activity, RNA polymerase II-specific. Involved in several processes, including myeloid cell differentiation; regulation of cellular macromolecule biosynthetic process; and regulation of erythrocyte differentiation. Localizes to nucleoplasm; protein-DNA complex; and transcription repressor complex. Implicated in Down syndrome; X-linked recessive disease (multiple); beta thalassemia; and hematologic cancer (multiple). Biomarker of acute myeloid leukemia; major depressive disorder; myelodysplastic syndrome; and myelofibrosis.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

ERYF1; erythroid transcription factor; erythroid transcription factor 1; GATA binding protein 1 (globin transcription factor 1); GATA-1; GATA-binding factor 1; GF-1; GF1; globin transcription factor 1; NF-E1; NF-E1 DNA-binding protein; NFE1; nuclear factor, erythroid 1; transcription factor GATA1; XLANP; XLTDA; XLTT

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

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):	Gata1 (GATA binding protein 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Gata1 (GATA binding protein 1)	RGD	RGD
Chinchilla lanigera (long-tailed chinchilla):	Gata1 (GATA binding protein 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	GATA1 (GATA binding protein 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	GATA1 (GATA binding protein 1)	HGNC	EggNOG, HomoloGene, NCBI, OMA, OrthoDB, OrthoMCL
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Gata1 (GATA binding protein 1)	NCBI	Ortholog
Sus scrofa (pig):	GATA1 (GATA binding protein 1)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (African green monkey):	GATA1 (GATA binding protein 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Gata1 (GATA binding protein 1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Gata1 (GATA binding protein 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|OMA\|TreeFam)
Mus musculus (house mouse):	Gata1 (GATA binding protein 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Rattus norvegicus (Norway rat):	NEWGENE_2663 (GATA binding protein 1 (globin transcription factor 1))	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Danio rerio (zebrafish):	gata1a (GATA binding protein 1a)	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|PhylomeDB\|TreeFam\|ZFIN)
Danio rerio (zebrafish):	gata1b (GATA binding protein 1b)	Alliance	DIOPT (OrthoFinder\|PANTHER\|TreeFam\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	GAT1	Alliance	DIOPT (Ensembl Compara\|OrthoInspector\|PANTHER\|Roundup)
Drosophila melanogaster (fruit fly):	srp	Alliance	DIOPT (Ensembl Compara\|PANTHER\|Roundup)
Saccharomyces cerevisiae (baker's yeast):	GLN3	Alliance	DIOPT (OrthoInspector\|PANTHER\|Roundup)
Caenorhabditis elegans (roundworm):	elt-1	Alliance	DIOPT (InParanoid\|OrthoFinder\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Drosophila melanogaster (fruit fly):	grn	Alliance	DIOPT (Ensembl Compara\|Roundup\|TreeFam)
Saccharomyces cerevisiae (baker's yeast):	GZF3	Alliance	DIOPT (Ensembl Compara\|OrthoInspector\|Roundup)

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.p13 Ensembl	X	48,786,554 - 48,794,311 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p13 Ensembl	X	48,786,562 - 48,794,311 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	X	48,786,590 - 48,794,311 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	X	48,644,998 - 48,652,718 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	48,529,906 - 48,537,662 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	X	48,401,209 - 48,408,964	NCBI
Celera	X	53,010,810 - 53,018,547 (-)	NCBI
Cytogenetic Map	X	p11.23	NCBI
HuRef	X	46,304,230 - 46,311,086 (+)	NCBI		HuRef
CHM1_1	X	48,676,125 - 48,683,862 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

acute megakaryocytic leukemia (IAGP)

acute myeloid leukemia (IEP)

Altitude Sickness (IEP)

anemia (IAGP)

autistic disorder (IAGP)

beta thalassemia (IDA)

congenital disorder of glycosylation type IIm (IAGP)

Diamond-Blackfan anemia (IAGP)

Down syndrome (IAGP)

Familial Myelofibrosis (ISO)

Fibrosis (ISO)

major depressive disorder (IEP)

mental depression (ISO)

myelodysplastic syndrome (EXP,IEP,ISO)

myelofibrosis (IEP,ISS)

myeloid leukemia (ISO)

myeloid leukemia associated with Down Syndrome (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

thrombocytopenia (EXP,IAGP,ISO)

Thrombocytopenia 1 (IAGP)

transient myeloproliferative syndrome (EXP,IAGP)

X-linked dyserythropoietic anemia (IAGP)

X-linked thrombocytopenia with beta-thalassemia (IAGP)

X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1-octadec-9-enoylglycero-3-phosphate (EXP)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',5,5'-tetrachlorobiphenyl (ISO)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2-butoxyethanol (ISO)

5-aza-2'-deoxycytidine (EXP)

aclacinomycin A (EXP)

acrylamide (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP,ISO)

ammonium chloride (ISO)

anagrelide (EXP)

arsenite(3-) (EXP)

arsenous acid (EXP)

benzene-1,2,4-triol (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

butyric acid (EXP)

calcium atom (ISO)

calcium(0) (ISO)

capsaicin (ISO)

carbon nanotube (ISO)

catechol (EXP)

Chebulinic acid (EXP)

chromium(6+) (ISO)

cobalt dichloride (EXP)

diarsenic trioxide (EXP)

doxorubicin (EXP)

fenvalerate (ISO)

genistein (ISO)

gentamycin (ISO)

hemin (EXP)

hydroquinone (EXP)

L-ascorbic acid (EXP)

lithium chloride (ISO)

N-acetyl-L-cysteine (EXP)

N-ethyl-N-nitrosourea (ISO)

oxaliplatin (ISO)

PCB138 (ISO)

phenol (EXP)

phorbol 13-acetate 12-myristate (EXP)

pomalidomide (EXP)

pyrrolidine dithiocarbamate (EXP)

quercetin (EXP)

sodium arsenate (ISO)

Tellimagrandin I (EXP)

titanium dioxide (ISO)

topotecan (ISO)

trichloroethene (ISO)

trichostatin A (EXP)

valproic acid (EXP)

vorinostat (EXP)

zidovudine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

animal organ regeneration (ISO)

basophil differentiation (IEA,IEP)

blood coagulation (TAS)

cell development (ISO)

cell fate commitment (IBA)

cell-cell signaling (IEA,ISO)

cellular response to cAMP (ISO)

cellular response to follicle-stimulating hormone stimulus (ISO)

cellular response to lipopolysaccharide (ISO)

cellular response to thyroid hormone stimulus (IDA)

dendritic cell differentiation (IEA,ISO)

embryonic hemopoiesis (IEA,ISO)

eosinophil differentiation (IEA,IEP)

eosinophil fate commitment (IDA)

erythrocyte development (IEA,IMP)

erythrocyte differentiation (IEP,ISO)

homeostasis of number of cells within a tissue (IEA,ISO)

in utero embryonic development (IEA,ISO)

male gonad development (IMP)

megakaryocyte differentiation (IEA,IMP,ISO)

myeloid cell differentiation (ISO)

negative regulation of apoptotic process (IMP,ISO)

negative regulation of bone mineralization (IEA,ISO)

negative regulation of cell population proliferation (IEA,ISO)

negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (IMP)

negative regulation of transcription by RNA polymerase II (IBA,IDA,ISO)

negative regulation of transcription regulatory region DNA binding (IDA)

platelet aggregation (IMP,ISO)

platelet formation (IMP,ISO)

positive regulation of cytosolic calcium ion concentration (ISO)

positive regulation of erythrocyte differentiation (IMP)

positive regulation of mast cell degranulation (ISO)

positive regulation of osteoblast proliferation (IEA,ISO)

positive regulation of peptidyl-tyrosine phosphorylation (IMP,ISO)

positive regulation of transcription by RNA polymerase II (IDA,IMP,ISO)

positive regulation of transcription, DNA-templated (IDA,ISO)

regulation of definitive erythrocyte differentiation (IDA,ISO)

regulation of glycoprotein biosynthetic process (IMP,ISO)

regulation of hematopoietic stem cell differentiation (TAS)

regulation of megakaryocyte differentiation (TAS)

regulation of primitive erythrocyte differentiation (IEA,ISO)

regulation of transcription by RNA polymerase II (IBA,IEA)

Sertoli cell development (ISO)

transcriptional activation by promoter-enhancer looping (IEA,ISO)

Cellular Component

chromatin (ISA)

nucleoplasm (IDA,TAS)

nucleus (IDA,IEA,ISO)

protein-DNA complex (IDA)

transcription regulator complex (IDA)

transcription repressor complex (IDA)

Molecular Function

C2H2 zinc finger domain binding (IPI)

chromatin binding (ISO)

chromatin DNA binding (IDA)

cis-regulatory region sequence-specific DNA binding (ISO)

DNA binding (IDA,ISO)

DNA binding, bending (ISO)

DNA-binding transcription activator activity, RNA polymerase II-specific (IDA,ISO)

DNA-binding transcription factor activity (IDA)

DNA-binding transcription factor activity, RNA polymerase II-specific (IBA,IEA,ISA,ISO)

p53 binding (IEA,ISO)

protein binding (IPI,ISO)

RNA polymerase II cis-regulatory region sequence-specific DNA binding (IBA,IDA,IMP,ISO)

RNA polymerase II transcription factor binding (IPI,ISO)

RNA polymerase II transcription regulatory region sequence-specific DNA binding (IDA)

sequence-specific DNA binding (IEA,IMP,ISO)

sequence-specific double-stranded DNA binding (IDA)

transcription regulatory region sequence-specific DNA binding (IMP)

zinc ion binding (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal bleeding (IAGP)

Abnormal blistering of the skin (IAGP)

Abnormal circulating porphyrin concentration (IAGP)

Abnormal foot morphology (IAGP)

Abnormal granulocytopoietic cell morphology (IAGP)

Abnormal hemoglobin (IAGP)

Abnormal lactate dehydrogenase level (IAGP)

Abnormal megakaryocyte morphology (IAGP)

Abnormal platelet function (IAGP)

Abnormal platelet morphology (IAGP)

Abnormal reticulocyte morphology (IAGP)

Abnormal urinary color (IAGP)

Abnormality of multiple cell lineages in the bone marrow (IAGP)

Abnormality of skin pigmentation (IAGP)

Abnormality of the hand (IAGP)

Abnormality of the thenar eminence (IAGP)

Absent thumb (IAGP)

Acanthocytosis (IAGP)

Acute megakaryocytic leukemia (IAGP)

Acute myeloid leukemia (IAGP)

Adenocarcinoma of the colon (IAGP)

Aganglionic megacolon (IAGP)

Alzheimer disease (IAGP)

Anal atresia (IAGP)

Anemia (IAGP)

Anemia of inadequate production (IAGP)

Anisocytosis (IAGP)

Atlantoaxial instability (IAGP)

Atrial septal defect (IAGP)

Atypical scarring of skin (IAGP)

Blepharitis (IAGP)

Brachycephaly (IAGP)

Broad palm (IAGP)

Bruising susceptibility (IAGP)

Brushfield spots (IAGP)

Cleft lip (IAGP)

Cleft soft palate (IAGP)

Coarctation of aorta (IAGP)

Complete atrioventricular canal defect (IAGP)

Conductive hearing impairment (IAGP)

Congenital thrombocytopenia (IAGP)

Cryptorchidism (IAGP)

Cutaneous photosensitivity (IAGP)

Depressed nasal bridge (IAGP)

Developmental cataract (IAGP)

Developmental glaucoma (IAGP)

Duodenal stenosis (IAGP)

Ectropion (IAGP)

Elevated red cell adenosine deaminase level (IAGP)

Elliptocytosis (IAGP)

Epicanthus (IAGP)

Epistaxis (IAGP)

Erythroid hypoplasia (IAGP)

Flat face (IAGP)

Hemolytic anemia (IAGP)

High palate (IAGP)

Hirsutism (IAGP)

Horseshoe kidney (IAGP)

Hypertelorism (IAGP)

Hypertrichosis (IAGP)

Hypochromic anemia (IAGP)

Hypoplastic iliac wing (IAGP)

Hypospadias (IAGP)

Hypothyroidism (IAGP)

Hypotonia (IAGP)

Immunodeficiency (IAGP)

Impaired platelet aggregation (IAGP)

Increased hemoglobin (IAGP)

Increased mean corpuscular volume (IAGP)

Infantile onset (IAGP)

Intellectual disability (IAGP)

Joint laxity (IAGP)

Keratoconjunctivitis (IAGP)

Lethargy (IAGP)

Leukopenia (IAGP)

Low anterior hairline (IAGP)

Low-set ears (IAGP)

Macrocytic anemia (IAGP)

Macrocytic dyserythropoietic anemia (IAGP)

Macroglossia (IAGP)

Macrothrombocytopenia (IAGP)

Malar flattening (IAGP)

Malignant genitourinary tract tumor (IAGP)

Microcephaly (IAGP)

Micrognathia (IAGP)

Microtia (IAGP)

Myelodysplasia (IAGP)

Myeloproliferative disorder (IAGP)

Neurodevelopmental delay (IAGP)

Neutropenia (IAGP)

Nonimmune hydrops fetalis (IAGP)

Normochromic anemia (IAGP)

Osteopenia (IAGP)

Osteosarcoma (IAGP)

Pallor (IAGP)

Partial duplication of thumb phalanx (IAGP)

Persistence of hemoglobin F (IAGP)

Persistent bleeding after trauma (IAGP)

Petechiae (IAGP)

Poikilocytosis (IAGP)

Prolonged bleeding time (IAGP)

Protruding tongue (IAGP)

Ptosis (IAGP)

Pure red cell aplasia (IAGP)

Radial artery aplasia (IAGP)

Recurrent corneal erosions (IAGP)

Recurrent fractures (IAGP)

Recurrent skin infections (IAGP)

Renal agenesis (IAGP)

Reticulocytopenia (IAGP)

Reticulocytosis (IAGP)

Shallow acetabular fossae (IAGP)

Short middle phalanx of the 5th finger (IAGP)

Short neck (IAGP)

Short palm (IAGP)

Short stature (IAGP)

Short thumb (IAGP)

Single transverse palmar crease (IAGP)

Small for gestational age (IAGP)

Splenomegaly (IAGP)

Sporadic (IAGP)

Sprengel anomaly (IAGP)

Strabismus (IAGP)

Thickened nuchal skin fold (IAGP)

Thickened skin (IAGP)

Thrombocytopenia (IAGP)

Thrombocytosis (IAGP)

Triphalangeal thumb (IAGP)

Upslanted palpebral fissure (IAGP)

Variable expressivity (IAGP)

Ventricular septal defect (IAGP)

Webbed neck (IAGP)

Wide nasal bridge (IAGP)

X-linked recessive inheritance (IAGP)

References

References - curated


1.	Birger Y, etal., Blood. 2013 Aug 8;122(6):988-98. doi: 10.1182/blood-2012-10-460998. Epub 2013 May 29.
2.	Fadilah SA, etal., Leukemia. 2002 Aug;16(8):1563-5.
3.	Freson K, etal., Blood. 2001 Jul 1;98(1):85-92.
4.	GOA_HUMAN data from the GO Consortium
5.	Greene ME, etal., Blood Cells Mol Dis. 2003 Nov-Dec;31(3):351-6.
6.	Kang HJ, etal., Nat Med. 2012 Aug 12. doi: 10.1038/nm.2886.
7.	Li JP, etal., Zhonghua Xue Ye Xue Za Zhi. 2007 Aug;28(8):537-40.
8.	Liu YM, etal., Zhong Xi Yi Jie He Xue Bao. 2006 May;4(3):247-50.
9.	Majewski IJ, etal., Proc Natl Acad Sci U S A. 2006 Sep 19;103(38):14146-51. Epub 2006 Sep 11.
10.	Maratheftis CI, etal., Am J Hematol. 2007 Oct;82(10):887-92.
11.	Mehaffey MG, etal., Blood. 2001 Nov 1;98(9):2681-8.
12.	Nichols KE, etal., Nat Genet. 2000 Mar;24(3):266-70.
13.	OMIM Disease Annotation Pipeline
14.	Online Mendelian Inheritance in Man, OMIM (TM).
15.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16.	RGD automated import pipeline for gene-chemical interactions
17.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
18.	Shimamoto T, etal., Blood. 1995 Oct 15;86(8):3173-80.
19.	Shimizu R, etal., Mol Cell Biol. 2004 Dec;24(24):10814-25.
20.	Vannucchi AM, etal., Am J Pathol. 2005 Sep;167(3):849-58.
21.	Vannucchi AM, etal., Blood. 2002 Aug 15;100(4):1123-32.
22.	Vannucchi AM, etal., Blood. 2005 May 1;105(9):3493-501. Epub 2005 Jan 21.
23.	Yu C, etal., Blood. 2002 Sep 15;100(6):2040-5.

Additional References at PubMed

PMID:1999341	PMID:2104960	PMID:2300555	PMID:2467208	PMID:7568177	PMID:7678994	PMID:8507862	PMID:8628290	PMID:9209374	PMID:9230307	PMID:10364157	PMID:10438528
PMID:11018012	PMID:11724781	PMID:11809723	PMID:11867225	PMID:12045236	PMID:12172547	PMID:12196550	PMID:12202480	PMID:12239153	PMID:12242665	PMID:12359731	PMID:12432220
PMID:12477932	PMID:12483298	PMID:12489695	PMID:12490288	PMID:12496368	PMID:12556498	PMID:12560215	PMID:12576332	PMID:12586620	PMID:12609092	PMID:12649131	PMID:12724402
PMID:12767938	PMID:12816863	PMID:12857954	PMID:14512321	PMID:14623254	PMID:14656875	PMID:14668799	PMID:14691578	PMID:14744791	PMID:14966463	PMID:15123623	PMID:15136229
PMID:15226423	PMID:15265794	PMID:15314183	PMID:15489334	PMID:15542823	PMID:15563463	PMID:15613485	PMID:15644435	PMID:15673499	PMID:15684376	PMID:15701726	PMID:15772651
PMID:15895080	PMID:15920471	PMID:15967790	PMID:16012335	PMID:16107690	PMID:16186125	PMID:16225938	PMID:16249385	PMID:16407974	PMID:16543218	PMID:16607277	PMID:16628190
PMID:16631833	PMID:16648487	PMID:16840187	PMID:16861236	PMID:17132730	PMID:17148589	PMID:17167422	PMID:17196618	PMID:17332341	PMID:17408401	PMID:17420275	PMID:17538848
PMID:17576817	PMID:17654061	PMID:17713552	PMID:17763153	PMID:17881640	PMID:18029348	PMID:18059480	PMID:18191920	PMID:18206727	PMID:18443038	PMID:18586828	PMID:18599389
PMID:18689547	PMID:18714007	PMID:18780834	PMID:18793746	PMID:18930124	PMID:18979367	PMID:19049973	PMID:19097174	PMID:19114560	PMID:19172521	PMID:19204726	PMID:19212333
PMID:19274049	PMID:19351817	PMID:19375645	PMID:19411634	PMID:19437340	PMID:19447160	PMID:19453261	PMID:19509292	PMID:19513100	PMID:19522008	PMID:19556247	PMID:19633202
PMID:19654328	PMID:19721012	PMID:19825991	PMID:19850750	PMID:19924028	PMID:19941826	PMID:19965638	PMID:20064153	PMID:20101202	PMID:20133935	PMID:20143233	PMID:20211142
PMID:20301538	PMID:20301769	PMID:20339093	PMID:20398657	PMID:20410505	PMID:20418238	PMID:20495378	PMID:20554972	PMID:20586925	PMID:20679399	PMID:20729467	PMID:20807505
PMID:20870473	PMID:20922527	PMID:21041734	PMID:21205752	PMID:21210118	PMID:21248262	PMID:21287369	PMID:21289305	PMID:21304100	PMID:21464046	PMID:21532337	PMID:21555453
PMID:21571218	PMID:21609963	PMID:21715302	PMID:21873635	PMID:21900206	PMID:21967505	PMID:21988832	PMID:22020876	PMID:22050843	PMID:22102271	PMID:22110660	PMID:22160620
PMID:22164220	PMID:22235304	PMID:22426104	PMID:22513796	PMID:22706301	PMID:22853316	PMID:23127762	PMID:23208504	PMID:23278136	PMID:23380710	PMID:23426981	PMID:23440243
PMID:23704091	PMID:23874683	PMID:24021668	PMID:24027798	PMID:24196768	PMID:24222239	PMID:24245781	PMID:24253371	PMID:24255919	PMID:24336126	PMID:24369834	PMID:24407241
PMID:24453067	PMID:24579914	PMID:24594363	PMID:24608802	PMID:24639354	PMID:24705354	PMID:24722188	PMID:24740910	PMID:24746204	PMID:24766296	PMID:24880866	PMID:24952347
PMID:24952648	PMID:25230694	PMID:25251786	PMID:25268193	PMID:25270909	PMID:25340772	PMID:25416956	PMID:25528728	PMID:25621499	PMID:25682601	PMID:25711269	PMID:25726523
PMID:25755285	PMID:25814554	PMID:25910212	PMID:26019275	PMID:26186194	PMID:26205501	PMID:26234152	PMID:26439305	PMID:26713410	PMID:26766440	PMID:26848522	PMID:27010793
PMID:27044088	PMID:27052461	PMID:27107012	PMID:27134169	PMID:27215385	PMID:27342114	PMID:27353457	PMID:27485543	PMID:27667142	PMID:27821551	PMID:28082341	PMID:28161276
PMID:28179280	PMID:28240607	PMID:28473536	PMID:28514442	PMID:28550189	PMID:28553927	PMID:28566697	PMID:29400094	PMID:29567780	PMID:29949202	PMID:30503262	PMID:30530752
PMID:30617196	PMID:30700418	PMID:30755706	PMID:30825517	PMID:30872372	PMID:30889303	PMID:30914438	PMID:31049966	PMID:31069596	PMID:31264779	PMID:31652397	PMID:31865264
PMID:31897811	PMID:31930127	PMID:32296183	PMID:32533074	PMID:32759740	PMID:32851429	PMID:32911434

Genomics

Comparative Map Data

GATA1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	X	48,786,554 - 48,794,311 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38.p13 Ensembl	X	48,786,562 - 48,794,311 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	X	48,786,590 - 48,794,311 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	X	48,644,998 - 48,652,718 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	48,529,906 - 48,537,662 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	X	48,401,209 - 48,408,964	NCBI
Celera	X	53,010,810 - 53,018,547 (-)	NCBI
Cytogenetic Map	X	p11.23	NCBI
HuRef	X	46,304,230 - 46,311,086 (+)	NCBI		HuRef
CHM1_1	X	48,676,125 - 48,683,862 (+)	NCBI		CHM1_1

Gata1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	7,825,499 - 7,842,902 (-)	NCBI	GRCm39		mm39
GRCm39 Ensembl	X	7,825,499 - 7,844,310 (-)	Ensembl
GRCm38	X	7,959,260 - 7,976,663 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	7,959,260 - 7,978,071 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	7,536,386 - 7,544,941 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	X	7,116,219 - 7,124,774 (-)	NCBI			mm8
Celera	X	3,501,753 - 3,509,992 (+)	NCBI		Celera
Cytogenetic Map	X	A1.1	NCBI
cM Map	X	3.59	NCBI

Gata1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	X	14,529,706 - 14,537,530 (+)	NCBI
Rnor_6.0 Ensembl	X	15,378,789 - 15,382,066 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	X	15,273,937 - 15,281,759 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	X	16,054,178 - 16,062,000 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	26,564,259 - 26,572,081 (+)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	X	26,617,727 - 26,625,550 (+)	NCBI
Celera	X	14,614,331 - 14,622,295 (+)	NCBI		Celera
Cytogenetic Map	X	q12	NCBI

Gata1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955543	334,061 - 342,061 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955543	334,581 - 342,042 (+)	NCBI	ChiLan1.0	ChiLan1.0

GATA1
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	X	48,945,394 - 48,953,126 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	48,945,394 - 48,953,126 (+)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	X	41,088,724 - 41,092,190 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

GATA1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	X	41,971,582 - 41,998,303 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	X	41,991,321 - 41,998,319 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

Gata1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
SpeTri2.0	NW_004936721	742,862 - 750,843 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

GATA1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	X	42,898,442 - 42,905,976 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	42,898,431 - 42,905,939 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	47,745,326 - 47,752,876 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

GATA1
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	X	45,912,638 - 45,920,415 (+)	NCBI
ChlSab1.1 Ensembl	X	45,917,231 - 45,920,268 (+)	Ensembl

Gata1
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624893	595,948 - 602,980 (+)	NCBI

Position Markers

RH47645

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	48,646,182 - 48,646,321	UniSTS	GRCh37
Build 36	X	48,531,126 - 48,531,265	RGD	NCBI36
Celera	X	53,017,208 - 53,017,347	RGD
Cytogenetic Map	X	p11.23	UniSTS
HuRef	X	46,305,430 - 46,305,569	UniSTS
GeneMap99-GB4 RH Map	X	142.73	UniSTS
NCBI RH Map	X	197.4	UniSTS

PMC20354P2

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	48,650,265 - 48,650,513	UniSTS	GRCh37
Build 36	X	48,535,209 - 48,535,457	RGD	NCBI36
Celera	X	53,013,015 - 53,013,263	RGD
Cytogenetic Map	X	p11.23	UniSTS

GATA1_1983

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	48,652,222 - 48,652,910	UniSTS	GRCh37
Build 36	X	48,537,166 - 48,537,854	RGD	NCBI36
Celera	X	53,010,618 - 53,011,306	RGD

DXS9855

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	48,652,576 - 48,652,687	UniSTS	GRCh37
Build 36	X	48,537,520 - 48,537,631	RGD	NCBI36
Celera	X	53,010,841 - 53,010,952	RGD
Cytogenetic Map	X	p11.23	UniSTS

DXS9874

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	48,649,939 - 48,650,110	UniSTS	GRCh37
Build 36	X	48,534,883 - 48,535,054	RGD	NCBI36
Celera	X	53,013,418 - 53,013,589	RGD
HuRef	X	46,309,307 - 46,309,478	UniSTS

STS-X17254

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	48,652,451 - 48,652,649	UniSTS	GRCh37
Build 36	X	48,537,395 - 48,537,593	RGD	NCBI36
Celera	X	53,010,879 - 53,011,077	RGD
Cytogenetic Map	X	p11.23	UniSTS
GeneMap99-GB4 RH Map	X	141.19	UniSTS
NCBI RH Map	X	198.6	UniSTS

GDB:192497

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	X	p11.23	UniSTS

GDB:574073

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	48,651,579 - 48,652,340	UniSTS	GRCh37
Celera	X	53,011,188 - 53,011,949	UniSTS
Cytogenetic Map	X	p11.23	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	412
Count of miRNA genes:	361
Interacting mature miRNAs:	390
Transcripts:	ENST00000376665, ENST00000376670
Prediction methods:	Miranda, Pita, 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.

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

High

Medium

683

719

Low

1010

235

407

514

1178

582

613

749

745

507

658

Below cutoff

1272

1760

1103

441

309

312

2657

1266

2818

234

560

665

135

687

1779

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_008846	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_002049	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC231533	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF196971	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI057349	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC009797	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471224	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KC733811	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M30601	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X17254	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000376665 ⟹ ENSP00000365853

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	48,786,573 - 48,794,311 (+)	Ensembl

RefSeq Acc Id:

ENST00000376670 ⟹ ENSP00000365858

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	48,786,590 - 48,794,311 (+)	Ensembl

RefSeq Acc Id:

ENST00000651144 ⟹ ENSP00000498550

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	48,786,562 - 48,794,297 (+)	Ensembl

RefSeq Acc Id:

NM_002049 ⟹ NP_002040

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	48,786,590 - 48,794,311 (+)	NCBI
GRCh37	X	48,644,982 - 48,652,718 (+)	ENTREZGENE
Build 36	X	48,529,906 - 48,537,662 (+)	NCBI Archive
HuRef	X	46,304,230 - 46,311,086 (+)	ENTREZGENE
CHM1_1	X	48,676,125 - 48,683,862 (+)	NCBI

Sequence:

show sequence

GACACCCCCTGGGATCACACTGAGCTTGCCACATCCCCAAGGCGGCCGAACCCTCCGCAACCAC
CAGCCCAGGTTAATCCCCAGAGGCTCCATGGAGTTCCCTGGCCTGGGGTCCCTGGGGACCTCAG
AGCCCCTCCCCCAGTTTGTGGATCCTGCTCTGGTGTCCTCCACACCAGAATCAGGGGTTTTCTT
CCCCTCTGGGCCTGAGGGCTTGGATGCAGCAGCTTCCTCCACTGCCCCGAGCACAGCCACCGCT
GCAGCTGCGGCACTGGCCTACTACAGGGACGCTGAGGCCTACAGACACTCCCCAGTCTTTCAGG
TGTACCCATTGCTCAACTGTATGGAGGGGATCCCAGGGGGCTCACCATATGCCGGCTGGGCCTA
CGGCAAGACGGGGCTCTACCCTGCCTCAACTGTGTGTCCCACCCGCGAGGACTCTCCTCCCCAG
GCCGTGGAAGATCTGGATGGAAAAGGCAGCACCAGCTTCCTGGAGACTTTGAAGACAGAGCGGC
TGAGCCCAGACCTCCTGACCCTGGGACCTGCACTGCCTTCATCACTCCCTGTCCCCAATAGTGC
TTATGGGGGCCCTGACTTTTCCAGTACCTTCTTTTCTCCCACCGGGAGCCCCCTCAATTCAGCA
GCCTATTCCTCTCCCAAGCTTCGTGGAACTCTCCCCCTGCCTCCCTGTGAGGCCAGGGAGTGTG
TGAACTGCGGAGCAACAGCCACTCCACTGTGGCGGAGGGACAGGACAGGCCACTACCTATGCAA
CGCCTGCGGCCTCTATCACAAGATGAATGGGCAGAACAGGCCCCTCATCCGGCCCAAGAAGCGC
CTGATTGTCAGTAAACGGGCAGGTACTCAGTGCACCAACTGCCAGACGACCACCACGACACTGT
GGCGGAGAAATGCCAGTGGGGATCCCGTGTGCAATGCCTGCGGCCTCTACTACAAGCTACACCA
GGTGAACCGGCCACTGACCATGCGGAAGGATGGTATTCAGACTCGAAACCGCAAGGCATCTGGA
AAAGGGAAAAAGAAACGGGGCTCCAGTCTGGGAGGCACAGGAGCAGCCGAAGGACCAGCTGGTG
GCTTTATGGTGGTGGCTGGGGGCAGCGGTAGCGGGAATTGTGGGGAGGTGGCTTCAGGCCTGAC
ACTGGGCCCCCCAGGTACTGCCCATCTCTACCAAGGCCTGGGCCCTGTGGTGCTGTCAGGGCCT
GTTAGCCACCTCATGCCTTTCCCTGGACCCCTACTGGGCTCACCCACGGGCTCCTTCCCCACAG
GCCCCATGCCCCCCACCACCAGCACTACTGTGGTGGCTCCGCTCAGCTCATGAGGGCACAGAGC
ATGGCCTCCAGAGGAGGGGTGGTGTCCTTCTCCTCTTGTAGCCAGAATTCTGGACAACCCAAGT
CTCTGGGCCCCAGGCACCCCCTGGCTTGAACCTTCAAAGCTTTTGTAAAATAAAACCACCAAAG
TCCTGAAAAAAAAAAAAAAAAAAAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_002040	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA35885	(Get FASTA)	NCBI Sequence Viewer
	AAH09797	(Get FASTA)	NCBI Sequence Viewer
	AGN75067	(Get FASTA)	NCBI Sequence Viewer
	CAA35120	(Get FASTA)	NCBI Sequence Viewer
	EAW50749	(Get FASTA)	NCBI Sequence Viewer
	EAW50750	(Get FASTA)	NCBI Sequence Viewer
	EAW50751	(Get FASTA)	NCBI Sequence Viewer
	P15976	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_002040 ⟸ NM_002049

- UniProtKB:

P15976 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MEFPGLGSLGTSEPLPQFVDPALVSSTPESGVFFPSGPEGLDAAASSTAPSTATAAAAALAYYR
DAEAYRHSPVFQVYPLLNCMEGIPGGSPYAGWAYGKTGLYPASTVCPTREDSPPQAVEDLDGKG
STSFLETLKTERLSPDLLTLGPALPSSLPVPNSAYGGPDFSSTFFSPTGSPLNSAAYSSPKLRG
TLPLPPCEARECVNCGATATPLWRRDRTGHYLCNACGLYHKMNGQNRPLIRPKKRLIVSKRAGT
QCTNCQTTTTTLWRRNASGDPVCNACGLYYKLHQVNRPLTMRKDGIQTRNRKASGKGKKKRGSS
LGGTGAAEGPAGGFMVVAGGSGSGNCGEVASGLTLGPPGTAHLYQGLGPVVLSGPVSHLMPFPG
PLLGSPTGSFPTGPMPPTTSTTVVAPLSS

hide sequence

RefSeq Acc Id:

ENSP00000365853 ⟸ ENST00000376665

RefSeq Acc Id:

ENSP00000365858 ⟸ ENST00000376670

RefSeq Acc Id:

ENSP00000498550 ⟸ ENST00000651144

Protein Domains

GATA-type

Promoters

RGD ID:

6808697

Promoter ID:

HG_KWN:66703

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

ENST00000376665, ENST00000376670

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	48,529,336 - 48,529,987 (+)	MPROMDB

RGD ID:

6808871

Promoter ID:

HG_KWN:66704

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

OTTHUMT00000056519

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	48,535,736 - 48,536,236 (+)	MPROMDB

RGD ID:

13605244

Promoter ID:

EPDNEW_H28806

Type:

initiation region

Name:

GATA1_1

Description:

GATA binding protein 1

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	X	48,786,615 - 48,786,675	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_002049.4(GATA1):c.220+1del	deletion	Anemia without thromobocytopenia, X-linked [RCV000024619]\|GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144254]	ChrX:48791329 [GRCh38] ChrX:48649736 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.3(GATA1):c.646C>T (p.Arg216Trp)	single nucleotide variant	Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis [RCV000024620]	ChrX:48792370 [GRCh38] ChrX:48650777 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.3(GATA1):c.613G>A (p.Val205Met)	single nucleotide variant	Dyserythropoietic anemia with thrombocytopenia [RCV000011168]\|GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144255]	ChrX:48792337 [GRCh38] ChrX:48650744 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.3(GATA1):c.653A>G (p.Asp218Gly)	single nucleotide variant	GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144258]\|Thrombocytopenia [RCV000852181]\|Thrombocytopenia, X-linked, without dyserythropoietic anemia [RCV000011169]	ChrX:48792377 [GRCh38] ChrX:48650784 [GRCh37] ChrX:Xp11.23	pathogenic\|likely pathogenic
NM_002049.3(GATA1):c.622_623delinsTC (p.Gly208Ser)	indel	GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144256]\|Thrombocytopenia, X-linked, without dyserythropoietic anemia [RCV000011170]	ChrX:48792346..48792347 [GRCh38] ChrX:48650753..48650754 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.3(GATA1):c.184_187dup (p.Tyr63fs)	duplication	Leukemia, megakaryoblastic, of Down syndrome [RCV000011171]	ChrX:48791292..48791293 [GRCh38] ChrX:48649699..48649700 [GRCh37] ChrX:Xp11.23	pathogenic\|other
NM_002049.3(GATA1):c.652G>T (p.Asp218Tyr)	single nucleotide variant	Dyserythropoietic anemia with thrombocytopenia [RCV000011172]\|GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144259]	ChrX:48792376 [GRCh38] ChrX:48650783 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.3(GATA1):c.647G>A (p.Arg216Gln)	single nucleotide variant	Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis [RCV000011173]	ChrX:48792371 [GRCh38] ChrX:48650778 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.3(GATA1):c.154_173dup (p.Ala59fs)	duplication	Acute megakaryoblastic leukemia [RCV000011174]	ChrX:48791260..48791261 [GRCh38] ChrX:48649667..48649668 [GRCh37] ChrX:Xp11.23	pathogenic\|other
GATA1, 332G-C	single nucleotide variant	Anemia without thromobocytopenia, X-linked [RCV000011175]\|X-linked anemia without thromobocytopenia [RCV000011175]	ChrX:Xp11.23	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	copy number gain	See cases [RCV000133911]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|likely pathogenic\|conflicting data from submitters
NM_002049.3(GATA1):c.21del (p.Ser8fs)	deletion	GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000544726]	ChrX:48791127 [GRCh38] ChrX:48649534 [GRCh37] ChrX:Xp11.23	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	copy number loss	See cases [RCV000050811]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000050699]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	Global developmental delay [RCV000050386]\|See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000050697]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1	copy number loss	See cases [RCV000051026]	ChrX:10679..52809182 [GRCh38] ChrX:60679..52838206 [GRCh37] ChrX:679..52854931 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|See cases [RCV000052327]	ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	copy number gain	See cases [RCV000052324]	ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	copy number gain	See cases [RCV000052359]	ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3	copy number gain	See cases [RCV000052325]	ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3	copy number gain	See cases [RCV000052390]	ChrX:47859417..52789530 [GRCh38] ChrX:47835880..52818575 [GRCh37] ChrX:47603760..52835300 [NCBI36] ChrX:Xp11.23-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	copy number gain	See cases [RCV000052322]	ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2	copy number gain	See cases [RCV000051992]	ChrX:48344666..52664916 [GRCh38] ChrX:48204101..52616581 [GRCh37] ChrX:48089045..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	Global developmental delay [RCV000052986]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|Intellectual functioning disability [RCV000052988]\|Global developmental delay [RCV000052989]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	copy number loss	See cases [RCV000053005]	ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	Hypoplastic left heart [RCV000052982]\|See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	copy number loss	See cases [RCV000052990]	ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	copy number loss	See cases [RCV000052994]	ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	copy number loss	See cases [RCV000053007]	ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	Global developmental delay [RCV000052984]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|See cases [RCV000052971]	ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp11.23(chrX:48612125-49292405)x2	copy number gain	See cases [RCV000054185]	ChrX:48612125..49292405 [GRCh38] ChrX:48510591..49148873 [GRCh37] ChrX:48355457..49035817 [NCBI36] ChrX:Xp11.23	uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3	copy number gain	See cases [RCV000053817]	ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	copy number gain	See cases [RCV000133654]	ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28	pathogenic
NM_002049.3(GATA1):c.2T>C (p.Met1Thr)	single nucleotide variant	Anemia without thromobocytopenia, X-linked [RCV000754842]\|GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144252]	ChrX:48791111 [GRCh38] ChrX:48649518 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.3(GATA1):c.220G>C (p.Val74Leu)	single nucleotide variant	Anemia without thromobocytopenia, X-linked [RCV000011175]\|GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144253]	ChrX:48791329 [GRCh38] ChrX:48649736 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.3(GATA1):c.220+1delG	deletion	GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144254]	ChrX:48791330 [GRCh38] ChrX:48649737 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.3(GATA1):c.622G>C (p.Gly208Arg)	single nucleotide variant	GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144257]	ChrX:48792346 [GRCh38] ChrX:48650753 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.3(GATA1):c.994G>T (p.Gly332Cys)	single nucleotide variant	GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144260]	ChrX:48793916 [GRCh38] ChrX:48652323 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.3(GATA1):c.1240T>C (p.Ter414Arg)	single nucleotide variant	GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000144261]\|Thrombocytopenia [RCV001003925]	ChrX:48794162 [GRCh38] ChrX:48652569 [GRCh37] ChrX:Xp11.23	pathogenic\|likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	copy number loss	See cases [RCV000133792]	ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1	copy number loss	See cases [RCV000133817]	ChrX:10701..52857805 [GRCh38] ChrX:60701..52886834 [GRCh37] ChrX:701..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1	copy number loss	See cases [RCV000133745]	ChrX:10679..50059388 [GRCh38] ChrX:60679..49824045 [GRCh37] ChrX:679..49710785 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	copy number loss	See cases [RCV000134568]	ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	copy number loss	See cases [RCV000134026]	ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	copy number loss	See cases [RCV000135300]	ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1	copy number loss	See cases [RCV000135305]	ChrX:8176030..53962833 [GRCh38] ChrX:8144071..53989266 [GRCh37] ChrX:8104071..54005991 [NCBI36] ChrX:Xp22.31-11.22	pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3	copy number gain	See cases [RCV000134956]	ChrX:43361870..50931794 [GRCh38] ChrX:43221119..50674794 [GRCh37] ChrX:43106063..50691534 [NCBI36] ChrX:Xp11.3-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3	copy number gain	See cases [RCV000134957]	ChrX:10679..52857805 [GRCh38] ChrX:60679..52886834 [GRCh37] ChrX:679..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3	copy number gain	See cases [RCV000135801]	ChrX:48022053..52664916 [GRCh38] ChrX:47881447..52616581 [GRCh37] ChrX:47766391..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic\|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	copy number loss	See cases [RCV000135552]	ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	copy number loss	See cases [RCV000136478]	ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	copy number loss	See cases [RCV000136097]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	copy number loss	See cases [RCV000136094]	ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3	copy number gain	See cases [RCV000135958]	ChrX:48344666..58055036 [GRCh38] ChrX:48204101..58081470 [GRCh37] ChrX:48089045..58098195 [NCBI36] ChrX:Xp11.23-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1	copy number loss	See cases [RCV000137112]	ChrX:10679..52213731 [GRCh38] ChrX:60679..51948998 [GRCh37] ChrX:679..51973598 [NCBI36] ChrX:Xp22.33-11.22	pathogenic\|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	copy number gain	See cases [RCV000137137]	ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48260861-52664916)x2	copy number gain	See cases [RCV000136829]	ChrX:48260861..52664916 [GRCh38] ChrX:48120296..52616581 [GRCh37] ChrX:48005240..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1	copy number loss	See cases [RCV000137430]	ChrX:10701..52033734 [GRCh38] ChrX:60701..51776830 [GRCh37] ChrX:701..51793570 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	copy number loss	See cases [RCV000137552]	ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1	copy number loss	See cases [RCV000137166]	ChrX:10679..49157514 [GRCh38] ChrX:60679..49016667 [GRCh37] ChrX:679..48903611 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1	copy number loss	See cases [RCV000137413]	ChrX:10701..49071220 [GRCh38] ChrX:60701..48928877 [GRCh37] ChrX:701..48815821 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3	copy number gain	See cases [RCV000137271]	ChrX:44765664..49343053 [GRCh38] ChrX:44624910..49218180 [GRCh37] ChrX:44509854..49105124 [NCBI36] ChrX:Xp11.3-11.23	likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3	copy number gain	See cases [RCV000138106]	ChrX:48429509..52664916 [GRCh38] ChrX:48287896..52616581 [GRCh37] ChrX:48172840..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic\|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1	copy number loss	See cases [RCV000138107]	ChrX:48429509..52664916 [GRCh38] ChrX:48287896..52693966 [GRCh37] ChrX:48172840..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	copy number loss	See cases [RCV000137886]	ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3	pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	copy number loss	See cases [RCV000138678]	ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	copy number loss	See cases [RCV000139343]	ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	copy number loss	See cases [RCV000139278]	ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	copy number loss	See cases [RCV000139352]	ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31	pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2	copy number gain	See cases [RCV000139185]	ChrX:48386298..52664916 [GRCh38] ChrX:48245740..52616581 [GRCh37] ChrX:48130684..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic\|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	copy number gain	See cases [RCV000141400]	ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	copy number gain	See cases [RCV000141401]	ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	copy number gain	See cases [RCV000140786]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1	copy number loss	See cases [RCV000140711]	ChrX:10701..53750424 [GRCh38] ChrX:60701..53776922 [GRCh37] ChrX:701..53793647 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	copy number loss	See cases [RCV000140787]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1	copy number loss	See cases [RCV000141741]	ChrX:251879..50289363 [GRCh38] ChrX:168546..50032363 [GRCh37] ChrX:108546..50049103 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3	copy number gain	See cases [RCV000141567]	ChrX:46971389..54130971 [GRCh38] ChrX:46818746..53957191 [GRCh37] ChrX:46703690..54174129 [NCBI36] ChrX:Xp11.3-11.22	pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	copy number loss	See cases [RCV000142334]	ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1	copy number loss	See cases [RCV000142035]	ChrX:251880..51643625 [GRCh38] ChrX:168547..51386559 [GRCh37] ChrX:108547..51403299 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	copy number gain	See cases [RCV000142134]	ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	copy number gain	See cases [RCV000142625]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	copy number loss	See cases [RCV000143441]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	copy number gain	See cases [RCV000143433]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1	copy number loss	See cases [RCV000143348]	ChrX:10701..53131191 [GRCh38] ChrX:60701..53047381 [GRCh37] ChrX:701..53177098 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	copy number loss	See cases [RCV000143130]	ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_002049.3(GATA1):c.163G>A (p.Ala55Thr)	single nucleotide variant	Diamond-Blackfan anemia [RCV000228015]\|not specified [RCV000121144]	ChrX:48791272 [GRCh38] ChrX:48649679 [GRCh37] ChrX:Xp11.23	benign\|not provided
NM_002049.3(GATA1):c.949C>T (p.Arg317Trp)	single nucleotide variant	not specified [RCV000121145]	ChrX:48793871 [GRCh38] ChrX:48652278 [GRCh37] ChrX:Xp11.23	not provided
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	copy number loss	See cases [RCV000239814]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48310313-52614698)x1	copy number loss	See cases [RCV000203435]	ChrX:48310313..52614698 [GRCh37] ChrX:Xp11.23-11.22	pathogenic\|uncertain significance
NM_002049.3(GATA1):c.89C>G (p.Ser30Ter)	single nucleotide variant	GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000552766]	ChrX:48791198 [GRCh38] ChrX:48649605 [GRCh37] ChrX:Xp11.23	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	copy number gain	See cases [RCV000239834]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	copy number gain	See cases [RCV000240019]	ChrX:44734936..79676121 [GRCh37] ChrX:Xp11.3-q21.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	copy number gain	See cases [RCV000239989]	ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_002049.3(GATA1):c.174G>A (p.Ala58=)	single nucleotide variant	not specified [RCV000244516]	ChrX:48791283 [GRCh38] ChrX:48649690 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.3(GATA1):c.1173G>A (p.Thr391=)	single nucleotide variant	Diamond-Blackfan anemia [RCV000863524]\|not specified [RCV000252528]	ChrX:48794095 [GRCh38] ChrX:48652502 [GRCh37] ChrX:Xp11.23	benign\|likely benign
NM_002049.3(GATA1):c.-19-5C>T	single nucleotide variant	not specified [RCV000247974]	ChrX:48791086 [GRCh38] ChrX:48649493 [GRCh37] ChrX:Xp11.23	likely benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	copy number gain	not provided [RCV000488046]	ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25	uncertain significance
NM_002049.3(GATA1):c.419G>A (p.Arg140Gln)	single nucleotide variant	GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000640922]	ChrX:48792042 [GRCh38] ChrX:48650449 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.3(GATA1):c.64G>A (p.Ala22Thr)	single nucleotide variant	GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000640925]	ChrX:48791173 [GRCh38] ChrX:48649580 [GRCh37] ChrX:Xp11.23	benign
NM_002049.3(GATA1):c.1092C>G (p.Tyr364Ter)	single nucleotide variant	not provided [RCV000578997]	ChrX:48794014 [GRCh38] ChrX:48652421 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.3(GATA1):c.94G>A (p.Val32Ile)	single nucleotide variant	Complete trisomy 21 syndrome [RCV000766096]\|Diamond-Blackfan anemia [RCV000533431]	ChrX:48791203 [GRCh38] ChrX:48649610 [GRCh37] ChrX:Xp11.23	benign\|uncertain significance
NM_002049.3(GATA1):c.919C>T (p.Arg307Cys)	single nucleotide variant	not specified [RCV000412884]	ChrX:48793841 [GRCh38] ChrX:48652248 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1	copy number loss	not provided [RCV000753275]	ChrX:60814..55476165 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_002049.3(GATA1):c.622G>A (p.Gly208Arg)	single nucleotide variant	not provided [RCV000414345]	ChrX:48792346 [GRCh38] ChrX:48650753 [GRCh37] ChrX:Xp11.23	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	copy number loss	See cases [RCV000449461]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3	copy number gain	See cases [RCV000449437]	ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x3	copy number gain	See cases [RCV000449147]	ChrX:48317353..51497588 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	See cases [RCV000449330]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1	copy number loss	See cases [RCV000446584]	ChrX:168546..55529093 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	copy number loss	See cases [RCV000446667]	ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1	copy number loss	See cases [RCV000447092]	ChrX:168546..56684082 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1	copy number loss	See cases [RCV000447470]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	See cases [RCV000446932]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3	copy number gain	See cases [RCV000446310]	ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3	copy number gain	See cases [RCV000447253]	ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x2	copy number gain	See cases [RCV000447617]	ChrX:48317353..51497588 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	See cases [RCV000448393]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1	copy number loss	See cases [RCV000447773]	ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
NM_002049.3(GATA1):c.479A>G (p.Asn160Ser)	single nucleotide variant	Diamond-Blackfan anemia [RCV000457001]	ChrX:48792102 [GRCh38] ChrX:48650509 [GRCh37] ChrX:Xp11.23	benign\|uncertain significance
NM_002049.3(GATA1):c.892C>T (p.Arg298Trp)	single nucleotide variant	GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000471862]	ChrX:48793814 [GRCh38] ChrX:48652221 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	copy number loss	See cases [RCV000512136]	ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_002049.3(GATA1):c.418C>T (p.Arg140Trp)	single nucleotide variant	not provided [RCV000479104]	ChrX:48792041 [GRCh38] ChrX:48650448 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.3(GATA1):c.113C>T (p.Pro38Leu)	single nucleotide variant	Diamond-Blackfan anemia [RCV000532112]\|not specified [RCV000500961]	ChrX:48791222 [GRCh38] ChrX:48649629 [GRCh37] ChrX:Xp11.23	benign\|likely benign\|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	copy number loss	See cases [RCV000510382]	ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_002049.3(GATA1):c.982G>A (p.Glu328Lys)	single nucleotide variant	not specified [RCV000499462]	ChrX:48793904 [GRCh38] ChrX:48652311 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	copy number loss	See cases [RCV000510419]	ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	copy number loss	See cases [RCV000510437]	ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	copy number loss	See cases [RCV000512022]	ChrX:168546..57683964 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	copy number loss	See cases [RCV000511413]	ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28	pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	copy number loss	See cases [RCV000512026]	ChrX:37521774..98488534 [GRCh37] ChrX:Xp21.1-q22.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_002049.3(GATA1):c.520T>C (p.Ser174Pro)	single nucleotide variant	not provided [RCV000493228]	ChrX:48792143 [GRCh38] ChrX:48650550 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	copy number loss	See cases [RCV000511615]	ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2	copy number gain	See cases [RCV000511234]	ChrX:46326268..48801984 [GRCh37] ChrX:Xp11.3-11.23	likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	copy number loss	See cases [RCV000510822]	ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_002049.3(GATA1):c.212A>G (p.His71Arg)	single nucleotide variant	Diamond-Blackfan anemia [RCV000640924]	ChrX:48791321 [GRCh38] ChrX:48649728 [GRCh37] ChrX:Xp11.23	benign
NC_000023.10:g.(?_48542223)_(48768933_?)dup	duplication	SLC35A2-CDG [RCV000651314]	ChrX:48542223..48768933 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	copy number loss	See cases [RCV000512142]	ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3	copy number gain	See cases [RCV000512224]	ChrX:48224454..52813336 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
NM_002049.3(GATA1):c.242T>C (p.Leu81Pro)	single nucleotide variant	not provided [RCV000640921]	ChrX:48791865 [GRCh38] ChrX:48650272 [GRCh37] ChrX:Xp11.23	likely benign\|uncertain significance
NM_002049.3(GATA1):c.480T>G (p.Asn160Lys)	single nucleotide variant	GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000640923]	ChrX:48792103 [GRCh38] ChrX:48650510 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4	copy number gain	See cases [RCV000512561]	ChrX:48290189..52154997 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	copy number loss	See cases [RCV000512339]	ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	copy number gain	not provided [RCV000684261]	ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1	copy number loss	not provided [RCV000684331]	ChrX:48156672..52672728 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
NM_002049.3(GATA1):c.220+1G>C	single nucleotide variant	GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000687498]	ChrX:48791330 [GRCh38] ChrX:48649737 [GRCh37] ChrX:Xp11.23	likely pathogenic
NM_002049.3(GATA1):c.529G>A (p.Gly177Arg)	single nucleotide variant	Diamond-Blackfan anemia [RCV000695247]	ChrX:48792152 [GRCh38] ChrX:48650559 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.3(GATA1):c.94dup (p.Val32fs)	duplication	GATA-1-related thrombocytopenia with dyserythropoiesis [RCV000685793]	ChrX:48791199..48791200 [GRCh38] ChrX:48649606..48649607 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.3(GATA1):c.824G>C (p.Gly275Ala)	single nucleotide variant	Macrothrombocytopenia [RCV000852233]	ChrX:48793251 [GRCh38] ChrX:48651658 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1	copy number loss	not provided [RCV000753535]	ChrX:48115450..73424191 [GRCh37] ChrX:Xp11.23-q13.2	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1	copy number loss	not provided [RCV000753274]	ChrX:60814..51821765 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1	copy number loss	not provided [RCV000753271]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Autistic disorder of childhood onset [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NC_000023.10:g.36649710_136649711del100000002insG	indel	Heterotaxy, visceral, 1, X-linked [RCV000754886]	ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3	pathogenic
NM_002049.4(GATA1):c.266G>A (p.Gly89Glu)	single nucleotide variant	Diamond-Blackfan anemia [RCV001068369]	ChrX:48791889 [GRCh38] ChrX:48650296 [GRCh37] ChrX:Xp11.23	uncertain significance
NC_000023.10:g.(?_48543926)_(48652581_?)dup	duplication	Diamond-Blackfan anemia [RCV001033332]	ChrX:48543926..48652581 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.361G>A (p.Val121Met)	single nucleotide variant	Diamond-Blackfan anemia [RCV000867424]	ChrX:48791984 [GRCh38] ChrX:48650391 [GRCh37] ChrX:Xp11.23	benign
NM_002049.4(GATA1):c.1045G>A (p.Val349Met)	single nucleotide variant	not provided [RCV000866495]	ChrX:48793967 [GRCh38] ChrX:48652374 [GRCh37] ChrX:Xp11.23	benign
NM_002049.4(GATA1):c.150G>A (p.Pro50=)	single nucleotide variant	Diamond-Blackfan anemia [RCV000946004]	ChrX:48791259 [GRCh38] ChrX:48649666 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.798G>A (p.Thr266=)	single nucleotide variant	Diamond-Blackfan anemia [RCV000866919]	ChrX:48793225 [GRCh38] ChrX:48651632 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.621C>T (p.Cys207=)	single nucleotide variant	not provided [RCV000866279]	ChrX:48792345 [GRCh38] ChrX:48650752 [GRCh37] ChrX:Xp11.23	likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	copy number loss	not provided [RCV001007224]	ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
NM_002049.3(GATA1):c.752_754delinsTT (p.Ser251fs)	indel	Diamond-Blackfan anemia [RCV000807395]	ChrX:48793179..48793181 [GRCh38] ChrX:48651586..48651588 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622)	copy number gain	not provided [RCV000767648]	ChrX:43507300..48929622 [GRCh37] ChrX:Xp11.3-11.23	pathogenic
NM_002049.4(GATA1):c.822T>C (p.Ser274=)	single nucleotide variant	not provided [RCV000875102]	ChrX:48793249 [GRCh38] ChrX:48651656 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.93G>T (p.Gly31=)	single nucleotide variant	Diamond-Blackfan anemia [RCV000864137]	ChrX:48791202 [GRCh38] ChrX:48649609 [GRCh37] ChrX:Xp11.23	benign
46,Y,inv(X)(p21.1q13.3)	inversion	Elevated serum creatine phosphokinase [RCV000856573]	ChrX:32196272..75245806 [GRCh37] ChrX:Xp21.1-q13.3	likely pathogenic
NM_002049.4(GATA1):c.201G>A (p.Glu67=)	single nucleotide variant	Diamond-Blackfan anemia [RCV000862074]	ChrX:48791310 [GRCh38] ChrX:48649717 [GRCh37] ChrX:Xp11.23	benign
NM_002049.4(GATA1):c.942A>G (p.Lys314=)	single nucleotide variant	Diamond-Blackfan anemia [RCV000868358]	ChrX:48793864 [GRCh38] ChrX:48652271 [GRCh37] ChrX:Xp11.23	benign
NM_002049.4(GATA1):c.870+8C>T	single nucleotide variant	Diamond-Blackfan anemia [RCV000875456]	ChrX:48793305 [GRCh38] ChrX:48651712 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.3(GATA1):c.166_187dup (p.Tyr63fs)	duplication	Diamond-Blackfan anemia [RCV000801573]	ChrX:48791272..48791273 [GRCh38] ChrX:48649679..48649680 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.3(GATA1):c.5_8dup (p.Phe3fs)	duplication	Diamond-Blackfan anemia [RCV000817722]	ChrX:48791113..48791114 [GRCh38] ChrX:48649520..48649521 [GRCh37] ChrX:Xp11.23	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_002049.4(GATA1):c.744+5G>A	single nucleotide variant	not provided [RCV000875677]	ChrX:48792473 [GRCh38] ChrX:48650880 [GRCh37] ChrX:Xp11.23	benign
NM_002049.4(GATA1):c.745-9G>A	single nucleotide variant	Diamond-Blackfan anemia [RCV000863327]	ChrX:48793163 [GRCh38] ChrX:48651570 [GRCh37] ChrX:Xp11.23	benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	copy number loss	See cases [RCV000790583]	ChrX:60814..50519984 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
NM_002049.4(GATA1):c.207C>T (p.Tyr69=)	single nucleotide variant	not provided [RCV000976931]	ChrX:48791316 [GRCh38] ChrX:48649723 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.571C>T (p.Arg191Cys)	single nucleotide variant	Diamond-Blackfan anemia [RCV000862181]	ChrX:48792194 [GRCh38] ChrX:48650601 [GRCh37] ChrX:Xp11.23	benign
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	copy number loss	not provided [RCV000845670]	ChrX:40572613..92796528 [GRCh37] ChrX:Xp11.4-q21.32	pathogenic
GRCh37/hg19 Xp11.23(chrX:48491182-48772769)x3	copy number gain	not provided [RCV000845674]	ChrX:48491182..48772769 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.3(GATA1):c.816T>A (p.Asn272Lys)	single nucleotide variant	Thrombocytopenia [RCV000852229]	ChrX:48793243 [GRCh38] ChrX:48651650 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.337C>T (p.Arg113Cys)	single nucleotide variant	Diamond-Blackfan anemia [RCV001224446]	ChrX:48791960 [GRCh38] ChrX:48650367 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)	single nucleotide variant	Diamond-Blackfan anemia [RCV001224493]	ChrX:48791144 [GRCh38] ChrX:48649551 [GRCh37] ChrX:Xp11.23	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2	copy number gain	not provided [RCV000847795]	ChrX:48224266..52744574 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	copy number loss	not provided [RCV000846273]	ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1	pathogenic
NM_002049.3(GATA1):c.652G>A (p.Asp218Asn)	single nucleotide variant	Macrothrombocytopenia [RCV000852178]	ChrX:48792376 [GRCh38] ChrX:48650783 [GRCh37] ChrX:Xp11.23	likely pathogenic
NM_002049.4(GATA1):c.220+1G>A	single nucleotide variant	Diamond-Blackfan anemia [RCV001229278]	ChrX:48791330 [GRCh38] ChrX:48649737 [GRCh37] ChrX:Xp11.23	likely pathogenic
NM_002049.4(GATA1):c.282C>T (p.Ala94=)	single nucleotide variant	not provided [RCV000953934]	ChrX:48791905 [GRCh38] ChrX:48650312 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.501C>T (p.Asp167=)	single nucleotide variant	not provided [RCV000877522]	ChrX:48792124 [GRCh38] ChrX:48650531 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.98dup (p.Phe34fs)	duplication	Diamond-Blackfan anemia [RCV001068825]	ChrX:48791203..48791204 [GRCh38] ChrX:48649610..48649611 [GRCh37] ChrX:Xp11.23	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3	copy number gain	not provided [RCV001007303]	ChrX:48307437..50657313 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
NM_002049.4(GATA1):c.1024G>A (p.Gly342Ser)	single nucleotide variant	Diamond-Blackfan anemia [RCV001053750]	ChrX:48793946 [GRCh38] ChrX:48652353 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.944A>G (p.Lys315Arg)	single nucleotide variant	Diamond-Blackfan anemia [RCV001216171]	ChrX:48793866 [GRCh38] ChrX:48652273 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.49C>T (p.Gln17Ter)	single nucleotide variant	Diamond-Blackfan anemia [RCV001216172]	ChrX:48791158 [GRCh38] ChrX:48649565 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(GATA1):c.950G>A (p.Arg317Gln)	single nucleotide variant	Diamond-Blackfan anemia [RCV001245788]	ChrX:48793872 [GRCh38] ChrX:48652279 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.680C>T (p.Ala227Val)	single nucleotide variant	Anemia [RCV001003924]	ChrX:48792404 [GRCh38] ChrX:48650811 [GRCh37] ChrX:Xp11.23	likely pathogenic
NM_002049.4(GATA1):c.152G>A (p.Ser51Asn)	single nucleotide variant	Diamond-Blackfan anemia [RCV001038757]	ChrX:48791261 [GRCh38] ChrX:48649668 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2	copy number gain	not provided [RCV001258953]	ChrX:48102202..52685635 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2	copy number gain	not provided [RCV001258954]	ChrX:48178413..52686510 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	copy number loss	See cases [RCV001263061]	ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	copy number loss	not provided [RCV001281358]	ChrX:168546..56457794 [GRCh37] ChrX:Xp22.33-11.21	pathogenic

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:4170	AgrOrtholog
COSMIC	GATA1	COSMIC
Ensembl Genes	ENSG00000102145	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000365853	UniProtKB/TrEMBL
	ENSP00000365858	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000498550	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000376665	UniProtKB/TrEMBL
	ENST00000376670	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000651144	UniProtKB/Swiss-Prot
Gene3D-CATH	3.30.50.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000102145	GTEx
HGNC ID	HGNC:4170	ENTREZGENE
Human Proteome Map	GATA1	Human Proteome Map
InterPro	GATA-1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Transcription_factor_GATA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_GATA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_NHR/GATA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:2623	UniProtKB/Swiss-Prot
NCBI Gene	2623	ENTREZGENE
OMIM	190685	OMIM
	300367	OMIM
	300835	OMIM
	305371	OMIM
	314050	OMIM
PANTHER	PTHR10071	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR10071:SF190	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	GATA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA28584	PharmGKB
PRINTS	GATAZNFINGER	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	GATA_ZN_FINGER_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	GATA_ZN_FINGER_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	ZnF_GATA	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	B7WNQ9_HUMAN	UniProtKB/TrEMBL
	GATA1_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	Q96GB8	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-18	GATA1	GATA binding protein 1	GATA1	GATA binding protein 1 (globin transcription factor 1)	Symbol and/or name change	5135510	APPROVED

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

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM