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

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Symbol:

GATA1

Name:

GATA binding protein 1

RGD ID:

731384

HGNC Page

HGNC:4170

Description:

Enables 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 erythrocyte differentiation; and regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of protein-DNA complex and transcription repressor complex. Implicated in several diseases, including X-linked recessive disease (multiple); beta thalassemia; colon adenocarcinoma; depressive disorder; and hematologic cancer (multiple). Biomarker of clear cell renal cell carcinoma; colorectal cancer; hematologic cancer (multiple); lung cancer; and major depressive disorder.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

CNSHA9; 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; HAEADA; NF-E1; NF-E1 DNA-binding protein; NFE1; nuclear factor, erythroid 1; transcription factor GATA1; XLANP; XLTDA; XLTT

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):	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 (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\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Gata1 (GATA binding protein 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	gata1a (GATA binding protein 1a)	Alliance	DIOPT (Ensembl Compara\|PANTHER\|PhylomeDB\|ZFIN)
Danio rerio (zebrafish):	gata1b (GATA binding protein 1b)	Alliance	DIOPT (PANTHER\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	GAT1	Alliance	DIOPT (Ensembl Compara\|OrthoInspector\|PANTHER)
Drosophila melanogaster (fruit fly):	srp	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Caenorhabditis elegans (roundworm):	elt-1	Alliance	DIOPT (InParanoid\|PANTHER\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	GZF3	Alliance	DIOPT (Ensembl Compara\|OrthoInspector\|PANTHER)
Xenopus tropicalis (tropical clawed frog):	gata1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	gata1.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	gata1.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	X	48,786,590 - 48,794,311 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	48,786,540 - 48,794,311 (+)	Ensembl	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	Build 36	hg18	NCBI36
Build 34	X	48,401,209 - 48,408,964	NCBI
Celera	X	53,010,810 - 53,018,547 (-)	NCBI		Celera
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
T2T-CHM13v2.0	X	48,197,083 - 48,204,804 (+)	NCBI		T2T-CHM13v2.0

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)

clear cell renal cell carcinoma (IEP)

colon adenocarcinoma (IMP)

colorectal cancer (IEP)

congenital disorder of glycosylation type IIm (IAGP)

congenital hypoplastic anemia (IAGP)

Congenital Nonspherocytic Hemolytic Anemia 9 (IAGP)

cutaneous porphyria (IAGP)

depressive disorder (IDA,ISO)

Diamond-Blackfan anemia (IAGP)

Down syndrome (IAGP)

Familial Myelofibrosis (ISO)

Fibrosis (ISO)

genetic disease (IAGP)

immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome (IAGP)

lung cancer (IEP)

major depressive disorder (IEP)

myelodysplastic syndrome (EXP,IEP,ISO,ISS)

myelofibrosis (IEP,ISS)

myeloid leukemia (ISO)

myeloid leukemia associated with Down Syndrome (IAGP)

neurodegeneration with brain iron accumulation 5 (IAGP)

polycythemia (ISO)

syndromic X-linked intellectual disability Lubs type (IAGP)

thrombocytopenia (EXP,IAGP,ISO,ISS)

Thrombocytopenia 1 (IAGP)

transient myeloproliferative syndrome (EXP,IAGP)

Wiskott-Aldrich syndrome (IAGP)

X-linked dyserythropoietic anemia (IAGP)

X-linked epilepsy with variable learning disabilities and behavior disorders (IAGP)

X-linked severe congenital neutropenia (IAGP)

X-linked thrombocytopenia with beta-thalassemia (EXP,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)

4,4'-sulfonyldiphenol (EXP)

5-aza-2'-deoxycytidine (EXP)

aclacinomycin A (EXP)

acrylamide (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP,ISO)

ammonium chloride (ISO)

anagrelide (EXP)

arsane (EXP,ISO)

arsenic atom (EXP,ISO)

arsenite(3-) (EXP)

arsenous acid (EXP)

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

benzo[a]pyrene (EXP)

bisphenol A (ISO)

butyric acid (EXP)

cadmium atom (ISO)

calcium atom (ISO)

calcium(0) (ISO)

capsaicin (ISO)

carbon nanotube (ISO)

catechol (EXP)

CGP 52608 (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,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine (ISO)

N-acetyl-L-cysteine (EXP)

N-ethyl-N-nitrosourea (ISO)

nitrofen (ISO)

oxaliplatin (ISO)

PCB138 (ISO)

perfluorohexanesulfonic acid (ISO)

phenol (EXP)

phorbol 13-acetate 12-myristate (EXP)

pomalidomide (EXP)

pyrrolidine dithiocarbamate (EXP)

quercetin (EXP)

sodium arsenate (ISO)

sodium arsenite (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

anatomical structure morphogenesis (IEA)

animal organ regeneration (IEA,ISO)

basophil differentiation (IEP)

bone mineralization (IEA,ISO)

cell development (IEA,ISO)

cell differentiation (IEA)

cell fate commitment (IBA)

cell population proliferation (IEA,ISO)

cell-cell signaling (IEA,ISO)

cellular response to cAMP (IEA,ISO)

cellular response to follicle-stimulating hormone stimulus (IEA,ISO)

cellular response to lipopolysaccharide (IEA,ISO)

dendritic cell differentiation (IEA,ISO)

embryonic hemopoiesis (IEA,ISO)

eosinophil differentiation (IEP)

eosinophil fate commitment (IDA)

erythrocyte development (IMP)

erythrocyte differentiation (IEA,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 apoptotic process (IEA,ISO)

myeloid cell differentiation (IEA,ISO)

negative regulation of apoptotic process (IMP)

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 myeloid cell apoptotic process (IEA,ISO)

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

osteoblast proliferation (IEA,ISO)

platelet aggregation (IEA,IMP)

platelet formation (IEA,IMP,ISO)

positive regulation of cytosolic calcium ion concentration (IEA,ISO)

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

positive regulation of erythrocyte differentiation (IMP)

positive regulation of mast cell degranulation (IEA,ISO)

positive regulation of osteoblast proliferation (IEA,ISO)

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

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

primitive erythrocyte differentiation (IEA,ISO)

regulation of definitive erythrocyte differentiation (IDA,IEA)

regulation of glycoprotein biosynthetic process (IEA,IMP)

regulation of primitive erythrocyte differentiation (IEA,ISO)

regulation of transcription by RNA polymerase II (IEA)

Sertoli cell development (IEA,ISO)

system development (IEA)

transcription by RNA polymerase II (IEA,ISO)

Cellular Component

chromatin (ISA)

nucleoplasm (IDA,IEA,TAS)

nucleus (IBA,IDA,IEA)

protein-DNA complex (IDA)

transcription regulator complex (IDA)

transcription repressor complex (IDA)

Molecular Function

C2H2 zinc finger domain binding (IPI)

chromatin binding (IEA,ISO)

chromatin DNA binding (IDA)

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

DNA binding (IDA,IEA,ISO)

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

DNA-binding transcription factor activity (IDA,IEA)

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

metal ion binding (IEA)

p53 binding (IEA)

protein binding (IPI)

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

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

RNA polymerase II-specific DNA-binding transcription factor binding (IEA,IPI)

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

sequence-specific double-stranded DNA binding (IDA)

transcription cis-regulatory region binding (IMP)

transcription coactivator binding (IEA)

transcription coregulator binding (IEA,IPI)

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 lactate dehydrogenase concentration (IAGP)

Abnormal circulating porphyrin concentration (IAGP)

Abnormal granulocytopoietic cell morphology (IAGP)

Abnormal heart morphology (IAGP)

Abnormal hemoglobin (IAGP)

Abnormal megakaryocyte morphology (IAGP)

Abnormal platelet function (IAGP)

Abnormal reticulocyte morphology (IAGP)

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

Abnormality of the amniotic fluid (IAGP)

Abnormality of the genitourinary system (IAGP)

Abnormality of the head (IAGP)

Abnormality of the thenar eminence (IAGP)

Abnormality of the upper limb (IAGP)

Absent thumb (IAGP)

Acanthocytosis (IAGP)

Acute megakaryocytic leukemia (IAGP)

Acute myeloid leukemia (IAGP)

Adenocarcinoma of the colon (IAGP)

Anemia (IAGP)

Anemia of inadequate production (IAGP)

Anisocytosis (IAGP)

Atrial septal defect (IAGP)

Autism (IAGP)

Blindness (IAGP)

Bone marrow hypocellularity (IAGP)

Bruising susceptibility (IAGP)

Cleft lip (IAGP)

Cleft soft palate (IAGP)

Coarctation of aorta (IAGP)

Congenital hypoplastic anemia (IAGP)

Congenital thrombocytopenia (IAGP)

Corneal ulceration (IAGP)

Cryptorchidism (IAGP)

Decreased circulating vitamin D concentration (IAGP)

Depressed nasal bridge (IAGP)

Developmental cataract (IAGP)

Developmental glaucoma (IAGP)

Ectropion (IAGP)

Edema (IAGP)

Elevated red cell adenosine deaminase activity (IAGP)

Elliptocytosis (IAGP)

Epicanthus (IAGP)

Epistaxis (IAGP)

Erythrodontia (IAGP)

Erythroid hyperplasia (IAGP)

Erythroid hypoplasia (IAGP)

Facial hypertrichosis (IAGP)

Fragile skin (IAGP)

Growth delay (IAGP)

Hemolytic anemia (IAGP)

High palate (IAGP)

Horseshoe kidney (IAGP)

Hyperbilirubinemia (IAGP)

Hyperpigmentation of the skin (IAGP)

Hypertelorism (IAGP)

Hypochromic anemia (IAGP)

Hypopigmentation of the skin (IAGP)

Hypospadias (IAGP)

Impaired platelet aggregation (IAGP)

Increased connective tissue (IAGP)

Increased erythrocyte protoporphyrin concentration (IAGP)

Increased fecal coproporphyrin 1 (IAGP)

Increased mean corpuscular volume (IAGP)

Increased mean platelet volume (IAGP)

Increased RBC distribution width (IAGP)

Increased stool urobilinogen concentration (IAGP)

Increased urinary porphobilinogen (IAGP)

Infantile onset (IAGP)

Keratoconjunctivitis (IAGP)

Lethargy (IAGP)

Leukocytosis (IAGP)

Leukopenia (IAGP)

Loss of eyelashes (IAGP)

Low anterior hairline (IAGP)

Low-set ears (IAGP)

Macrocytic anemia (IAGP)

Macrocytic dyserythropoietic anemia (IAGP)

Macrothrombocytopenia (IAGP)

Malignant genitourinary tract tumor (IAGP)

Microcephaly (IAGP)

Micrognathia (IAGP)

Microtia (IAGP)

Myelodysplasia (IAGP)

Neoplasm of the skin (IAGP)

Neurodevelopmental delay (IAGP)

Neutropenia (IAGP)

Nonimmune hydrops fetalis (IAGP)

Normochromic anemia (IAGP)

Osteolysis (IAGP)

Osteopenia (IAGP)

Osteoporosis (IAGP)

Osteosarcoma (IAGP)

Pallor (IAGP)

Paresthesia (IAGP)

Partial duplication of thumb phalanx (IAGP)

Persistence of hemoglobin F (IAGP)

Persistent bleeding after trauma (IAGP)

Petechiae (IAGP)

Poikilocytosis (IAGP)

Porphyrinuria (IAGP)

Prolonged bleeding time (IAGP)

Pruritus (IAGP)

Ptosis (IAGP)

Pure red cell aplasia (IAGP)

Purple urine (IAGP)

Radial artery aplasia (IAGP)

Recurrent bacterial skin infections (IAGP)

Red-brown urine (IAGP)

Reduced erythrocyte adenosine triphosphate concentration (IAGP)

Reduced haptoglobin level (IAGP)

Reduced platelet alpha granules (IAGP)

Renal agenesis (IAGP)

Reticulocytopenia (IAGP)

Reticulocytosis (IAGP)

Scarring (IAGP)

Scarring alopecia of scalp (IAGP)

Scleritis (IAGP)

Seborrhoeic blepharitis (IAGP)

Severe photosensitivity (IAGP)

Short neck (IAGP)

Short stature (IAGP)

Short thumb (IAGP)

Skin erosion (IAGP)

Small for gestational age (IAGP)

Splenomegaly (IAGP)

Sprengel anomaly (IAGP)

Squamous cell carcinoma (IAGP)

Stomatocytosis (IAGP)

Strabismus (IAGP)

Thickened skin (IAGP)

Thrombocytopenia (IAGP)

Thrombocytosis (IAGP)

Transient myeloproliferative syndrome (IAGP)

Triphalangeal thumb (IAGP)

Unconjugated hyperbilirubinemia (IAGP)

Variable expressivity (IAGP)

Ventricular septal defect (IAGP)

Webbed neck (IAGP)

Wide nasal bridge (IAGP)

X-linked recessive inheritance (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Human lung tumor FOXP3+ Tregs upregulate four "Treg-locking" transcription factors.	Akimova T, etal., JCI Insight. 2017 Aug 17;2(16). pii: 94075. doi: 10.1172/jci.insight.94075. eCollection 2017 Aug 17.
2.	Perturbation of fetal hematopoiesis in a mouse model of Down syndrome's transient myeloproliferative disorder.	Birger Y, etal., Blood. 2013 Aug 8;122(6):988-98. doi: 10.1182/blood-2012-10-460998. Epub 2013 May 29.
3.	Overexpression of human GATA-1 and GATA-2 interferes with spine formation and produces depressive behavior in rats.	Choi M, etal., PLoS One. 2014 Oct 23;9(10):e109253. doi: 10.1371/journal.pone.0109253. eCollection 2014.
4.	GATA-1 and GATA-2 gene expression is related to the severity of dysplasia in myelodysplastic syndrome.	Fadilah SA, etal., Leukemia. 2002 Aug;16(8):1563-5.
5.	Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1 mutation.	Freson K, etal., Blood. 2001 Jul 1;98(1):85-92.
6.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
7.	Mutations in GATA1 in both transient myeloproliferative disorder and acute megakaryoblastic leukemia of Down syndrome.	Greene ME, etal., Blood Cells Mol Dis. 2003 Nov-Dec;31(3):351-6.
8.	Decreased expression of synapse-related genes and loss of synapses in major depressive disorder.	Kang HJ, etal., Nat Med. 2012 Aug 12. doi: 10.1038/nm.2886.
9.	[Expression of GATA-1 and GATA-2 in the bone marrow of patients with Monge's disease].	Li JP, etal., Zhonghua Xue Ye Xue Za Zhi. 2007 Aug;28(8):537-40.
10.	[Influence of HIF- 2α on the expression of GATA- 1 in bone marrow CD71(+) cell of high altitude polycythemia rat model].	Liu F, etal., Zhonghua Xue Ye Xue Za Zhi. 2016 Aug 14;37(8):696-701. doi: 10.3760/cma.j.issn.0253-2727.2016.08.013.
11.	[Effects of yisui shengxue granules on expressions of alpha-hemoglobin stabilizing protein and erythroid transcription factor GATA-1 mRNAs in bone marrow of patients with beta-thalassemia].	Liu YM, etal., Zhong Xi Yi Jie He Xue Bao. 2006 May;4(3):247-50.
12.	A mutation in the translation initiation codon of Gata-1 disrupts megakaryocyte maturation and causes thrombocytopenia.	Majewski IJ, etal., Proc Natl Acad Sci U S A. 2006 Sep 19;103(38):14146-51. Epub 2006 Sep 11.
13.	GATA-1 transcription factor is up-regulated in bone marrow hematopoietic progenitor CD34(+) and erythroid CD71(+) cells in myelodysplastic syndromes.	Maratheftis CI, etal., Am J Hematol. 2007 Oct;82(10):887-92.
14.	X-linked thrombocytopenia caused by a novel mutation of GATA-1.	Mehaffey MG, etal., Blood. 2001 Nov 1;98(9):2681-8.
15.	Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1.	Nichols KE, etal., Nat Genet. 2000 Mar;24(3):266-70.
16.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
17.	Online Mendelian Inheritance in Man, OMIM (TM).	Online Mendelian Inheritance in Man, OMIM (TM).
18.	Decreased mRNA expression of GATA1 and GATA2 is associated with tumor aggressiveness and poor outcome in clear cell renal cell carcinoma.	Peters I, etal., Target Oncol. 2015 Jun;10(2):267-75. doi: 10.1007/s11523-014-0335-8. Epub 2014 Sep 19.
19.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
20.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
21.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
22.	The expression pattern of erythrocyte/megakaryocyte-related transcription factors GATA-1 and the stem cell leukemia gene correlates with hematopoietic differentiation and is associated with outcome of acute myeloid leukemia.	Shimamoto T, etal., Blood. 1995 Oct 15;86(8):3173-80.
23.	Leukemogenesis caused by incapacitated GATA-1 function.	Shimizu R, etal., Mol Cell Biol. 2004 Dec;24(24):10814-25.
24.	Abnormalities of GATA-1 in megakaryocytes from patients with idiopathic myelofibrosis.	Vannucchi AM, etal., Am J Pathol. 2005 Sep;167(3):849-58.
25.	Development of myelofibrosis in mice genetically impaired for GATA-1 expression (GATA-1(low) mice).	Vannucchi AM, etal., Blood. 2002 Aug 15;100(4):1123-32.
26.	A pathobiologic pathway linking thrombopoietin, GATA-1, and TGF-beta1 in the development of myelofibrosis.	Vannucchi AM, etal., Blood. 2005 May 1;105(9):3493-501. Epub 2005 Jan 21.
27.	X-linked thrombocytopenia with thalassemia from a mutation in the amino finger of GATA-1 affecting DNA binding rather than FOG-1 interaction.	Yu C, etal., Blood. 2002 Sep 15;100(6):2040-5.
28.	GATA1 promotes colorectal cancer cell proliferation, migration and invasion via activating AKT signaling pathway.	Yu J, etal., Mol Cell Biochem. 2019 Jul;457(1-2):191-199. doi: 10.1007/s11010-019-03523-w. Epub 2019 May 9.

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:16371476	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:23858473	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:25251786	PMID:25268193	PMID:25270909	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:30554943	PMID:30617196	PMID:30700418	PMID:30755706	PMID:30825517	PMID:30872372	PMID:30889303	PMID:30914438	PMID:31049966	PMID:31264779	PMID:31413099	PMID:31652397
PMID:31865264	PMID:31897811	PMID:31930127	PMID:32296183	PMID:32354872	PMID:32533074	PMID:32681702	PMID:32759740	PMID:32763160	PMID:32814053	PMID:32851429	PMID:32911434
PMID:33360878	PMID:33386779	PMID:33483616	PMID:33611093	PMID:33690840	PMID:33780474	PMID:33961781	PMID:34060193	PMID:34189442	PMID:34244384	PMID:34341563	PMID:34425872
PMID:34758059	PMID:35030251	PMID:35140242	PMID:35203280	PMID:35328001	PMID:35342335	PMID:35491849	PMID:35587378	PMID:35690555	PMID:36120774	PMID:36291092	PMID:36447001
PMID:36542956	PMID:36749159	PMID:36905268	PMID:36987811	PMID:37171759	PMID:37254808	PMID:37372979	PMID:37488161	PMID:37591894	PMID:37906251	PMID:38103735	PMID:38159323
PMID:38350611	PMID:38695236	PMID:39017848

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	X	48,786,590 - 48,794,311 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	48,786,540 - 48,794,311 (+)	Ensembl	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	Build 36	hg18	NCBI36
Build 34	X	48,401,209 - 48,408,964	NCBI
Celera	X	53,010,810 - 53,018,547 (-)	NCBI		Celera
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
T2T-CHM13v2.0	X	48,197,083 - 48,204,804 (+)	NCBI		T2T-CHM13v2.0

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	7,825,504 - 7,842,844 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	7,825,499 - 7,844,310 (-)	Ensembl		GRCm39 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	MGSCv37	mm9	NCBIm37
MGSCv36	X	7,116,219 - 7,124,774 (-)	NCBI		MGSCv36	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
GRCr8	X	17,193,291 - 17,209,462 (+)	NCBI		GRCr8
mRatBN7.2	X	14,529,706 - 14,537,530 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	14,529,702 - 14,537,530 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	19,343,293 - 19,351,113 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	20,732,001 - 20,739,823 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	16,997,169 - 17,004,991 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	15,273,937 - 15,281,759 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	15,378,789 - 15,382,066 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0 Ensembl	X	15,273,933 - 15,281,759 (+)	Ensembl	Rnor6.0		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	RGSC_v3.4	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
NHGRI_mPanPan1-v2	X	50,280,196 - 50,283,660 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	50,283,568 - 50,287,032 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	41,088,724 - 41,092,190 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
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

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	X	41,991,321 - 41,998,319 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	41,971,582 - 41,998,303 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	16,366,765 - 16,373,724 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	42,127,527 - 42,134,488 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	42,127,523 - 42,134,481 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	42,113,779 - 42,120,737 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	42,102,035 - 42,108,995 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	42,196,190 - 42,203,150 (+)	NCBI		UU_Cfam_GSD_1.0

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
HiC_Itri_2	X	34,488,565 - 34,510,496 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936721	742,862 - 750,768 (+)	Ensembl	SpeTri2.0	SpeTri2.0 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 - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	X	45,912,638 - 45,920,415 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	45,917,231 - 45,920,268 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666076	11,392,674 - 11,400,428 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Gata1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624893	595,967 - 602,979 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624893	595,948 - 602,980 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in GATA1
281 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_002049.4(GATA1):c.220+1del	deletion	Diamond-Blackfan anemia [RCV001382886]\|Thrombocytopenia, X-linked, with or without dyserythropoietic anemia [RCV000144254]\|X-linked dyserythropoetic anemia with abnormal platelets and neutropenia [RCV000024619]	ChrX:48791329 [GRCh38] ChrX:48649736 [GRCh37] ChrX:Xp11.23	pathogenic\|not provided
NM_002049.4(GATA1):c.646C>T (p.Arg216Trp)	single nucleotide variant	Beta-thalassemia-X-linked thrombocytopenia syndrome [RCV000024620]\|Cutaneous porphyria [RCV001725115]\|GATA1-related disorder [RCV003398569]\|Thrombocytopenia, X-linked, with or without dyserythropoietic anemia [RCV001542264]\|X-linked dyserythropoetic anemia with abnormal platelets and neutropenia [RCV003989300]\|not provided [RCV002281045]	ChrX:48792370 [GRCh38] ChrX:48650777 [GRCh37] ChrX:Xp11.23	pathogenic\|likely pathogenic\|not provided
NM_002049.4(GATA1):c.613G>A (p.Val205Met)	single nucleotide variant	Thrombocytopenia, X-linked, with dyserythropoietic anemia [RCV000011168]\|Thrombocytopenia, X-linked, with or without dyserythropoietic anemia [RCV000144255]	ChrX:48792337 [GRCh38] ChrX:48650744 [GRCh37] ChrX:Xp11.23	pathogenic\|not provided
NM_002049.4(GATA1):c.653A>G (p.Asp218Gly)	single nucleotide variant	Thrombocytopenia [RCV000852181]\|Thrombocytopenia, X-linked, with or without dyserythropoietic anemia [RCV000144258]\|Thrombocytopenia, X-linked, without dyserythropoietic anemia [RCV000011169]	ChrX:48792377 [GRCh38] ChrX:48650784 [GRCh37] ChrX:Xp11.23	pathogenic\|likely pathogenic
NM_002049.4(GATA1):c.622_623delinsTC (p.Gly208Ser)	indel	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia [RCV000144256]\|Thrombocytopenia, X-linked, without dyserythropoietic anemia [RCV000011170]	ChrX:48792346..48792347 [GRCh38] ChrX:48650753..48650754 [GRCh37] ChrX:Xp11.23	pathogenic\|not provided
NM_002049.4(GATA1):c.184_187dup (p.Tyr63fs)	duplication	LEUKEMIA, MEGAKARYOBLASTIC, OF DOWN SYNDROME, SOMATIC [RCV000011171]	ChrX:48791292..48791293 [GRCh38] ChrX:48649699..48649700 [GRCh37] ChrX:Xp11.23	pathogenic\|other
NM_002049.4(GATA1):c.652G>T (p.Asp218Tyr)	single nucleotide variant	Thrombocytopenia, X-linked, with dyserythropoietic anemia [RCV000011172]\|Thrombocytopenia, X-linked, with or without dyserythropoietic anemia [RCV000144259]	ChrX:48792376 [GRCh38] ChrX:48650783 [GRCh37] ChrX:Xp11.23	pathogenic\|not provided
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)	single nucleotide variant	Beta-thalassemia-X-linked thrombocytopenia syndrome [RCV000011173]\|Diamond-Blackfan anemia [RCV001382887]\|Thrombocytopenia, X-linked, with or without dyserythropoietic anemia [RCV001542263]\|X-linked dyserythropoetic anemia with abnormal platelets and neutropenia [RCV003137511]\|not provided [RCV001701722]	ChrX:48792371 [GRCh38] ChrX:48650778 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(GATA1):c.154_173dup (p.Ala59fs)	duplication	Acute megakaryoblastic leukemia [RCV000011174]\|Diamond-Blackfan anemia [RCV001851786]	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_002049.4(GATA1):c.21del (p.Ser8fs)	deletion	Diamond-Blackfan anemia [RCV002232271]	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_002049.4(GATA1):c.2T>C (p.Met1Thr)	single nucleotide variant	Diamond-Blackfan anemia [RCV001382885]\|Thrombocytopenia, X-linked, with or without dyserythropoietic anemia [RCV000144252]\|X-linked dyserythropoetic anemia with abnormal platelets and neutropenia [RCV000754842]	ChrX:48791111 [GRCh38] ChrX:48649518 [GRCh37] ChrX:Xp11.23	pathogenic\|not provided
NM_002049.4(GATA1):c.220G>C (p.Val74Leu)	single nucleotide variant	Diamond-Blackfan anemia [RCV001857491]\|Thrombocytopenia, X-linked, with or without dyserythropoietic anemia [RCV000144253]\|X-linked dyserythropoetic anemia with abnormal platelets and neutropenia [RCV000011175]	ChrX:48791329 [GRCh38] ChrX:48649736 [GRCh37] ChrX:Xp11.23	pathogenic\|not provided
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_002049.4(GATA1):c.622G>C (p.Gly208Arg)	single nucleotide variant	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia [RCV000144257]	ChrX:48792346 [GRCh38] ChrX:48650753 [GRCh37] ChrX:Xp11.23	pathogenic\|not provided
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_002049.4(GATA1):c.1240T>C (p.Ter414Arg)	single nucleotide variant	Thrombocytopenia [RCV001003925]\|Thrombocytopenia, X-linked, with or without dyserythropoietic anemia [RCV000144261]	ChrX:48794162 [GRCh38] ChrX:48652569 [GRCh37] ChrX:Xp11.23	pathogenic\|likely pathogenic
NM_002049.4(GATA1):c.821G>A (p.Ser274Asn)	single nucleotide variant	Diamond-Blackfan anemia [RCV001349132]\|not provided [RCV001355392]	ChrX:48793248 [GRCh38] ChrX:48651655 [GRCh37] ChrX:Xp11.23	uncertain significance
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_002049.4(GATA1):c.163G>A (p.Ala55Thr)	single nucleotide variant	Diamond-Blackfan anemia [RCV000228015]\|GATA1-related disorder [RCV003945074]\|not provided [RCV001698963]\|not specified [RCV000121144]	ChrX:48791272 [GRCh38] ChrX:48649679 [GRCh37] ChrX:Xp11.23	benign\|likely benign\|not provided
NM_002049.4(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_002049.4(GATA1):c.89C>G (p.Ser30Ter)	single nucleotide variant	Acute megakaryoblastic leukemia in down syndrome [RCV001293757]\|Diamond-Blackfan anemia [RCV002232272]	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_002049.4(GATA1):c.174G>A (p.Ala58=)	single nucleotide variant	Diamond-Blackfan anemia [RCV001520190]\|Down syndrome [RCV002487125]\|not specified [RCV000244516]	ChrX:48791283 [GRCh38] ChrX:48649690 [GRCh37] ChrX:Xp11.23	benign\|likely benign
NM_002049.4(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_002049.4(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_002049.4(GATA1):c.419G>A (p.Arg140Gln)	single nucleotide variant	Beta-thalassemia-X-linked thrombocytopenia syndrome [RCV001330679]\|Diamond-Blackfan anemia [RCV002233491]	ChrX:48792042 [GRCh38] ChrX:48650449 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.64G>A (p.Ala22Thr)	single nucleotide variant	Diamond-Blackfan anemia [RCV002233493]	ChrX:48791173 [GRCh38] ChrX:48649580 [GRCh37] ChrX:Xp11.23	benign
NM_002049.4(GATA1):c.1092C>G (p.Tyr364Ter)	single nucleotide variant	Diamond-Blackfan anemia [RCV001860008]\|not provided [RCV000578997]	ChrX:48794014 [GRCh38] ChrX:48652421 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.94G>A (p.Val32Ile)	single nucleotide variant	Diamond-Blackfan anemia [RCV000533431]\|Down syndrome [RCV000766096]\|not provided [RCV003133317]	ChrX:48791203 [GRCh38] ChrX:48649610 [GRCh37] ChrX:Xp11.23	benign\|uncertain significance
NM_002049.4(GATA1):c.919C>T (p.Arg307Cys)	single nucleotide variant	Diamond-Blackfan anemia [RCV001850993]\|Hemolytic anemia due to erythrocyte adenosine deaminase overproduction [RCV002264695]\|not specified [RCV000412884]	ChrX:48793841 [GRCh38] ChrX:48652248 [GRCh37] ChrX:Xp11.23	pathogenic\|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_002049.4(GATA1):c.622G>A (p.Gly208Arg)	single nucleotide variant	Diamond-Blackfan anemia [RCV003766149]\|not provided [RCV000414345]	ChrX:48792346 [GRCh38] ChrX:48650753 [GRCh37] ChrX:Xp11.23	pathogenic\|uncertain significance
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_002049.4(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_002049.4(GATA1):c.892C>T (p.Arg298Trp)	single nucleotide variant	Diamond-Blackfan anemia [RCV002230772]	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_002049.4(GATA1):c.418C>T (p.Arg140Trp)	single nucleotide variant	not provided [RCV000479104]	ChrX:48792041 [GRCh38] ChrX:48650448 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.113C>T (p.Pro38Leu)	single nucleotide variant	Diamond-Blackfan anemia [RCV000532112]\|GATA1-related disorder [RCV003925462]\|not provided [RCV003884576]\|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_002049.4(GATA1):c.982G>A (p.Glu328Lys)	single nucleotide variant	Diamond-Blackfan anemia [RCV001865608]\|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\|uncertain significance
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_002049.4(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_002049.4(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-congenital disorder of glycosylation [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_002049.4(GATA1):c.242T>C (p.Leu81Pro)	single nucleotide variant	Diamond-Blackfan anemia [RCV001468422]	ChrX:48791865 [GRCh38] ChrX:48650272 [GRCh37] ChrX:Xp11.23	likely benign\|uncertain significance
NM_002049.4(GATA1):c.480T>G (p.Asn160Lys)	single nucleotide variant	Diamond-Blackfan anemia [RCV002233492]	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_002049.4(GATA1):c.220+1G>C	single nucleotide variant	Diamond-Blackfan anemia [RCV002232859]	ChrX:48791330 [GRCh38] ChrX:48649737 [GRCh37] ChrX:Xp11.23	likely pathogenic
NM_002049.4(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_002049.4(GATA1):c.94dup (p.Val32fs)	duplication	Diamond-Blackfan anemia [RCV002233125]	ChrX:48791199..48791200 [GRCh38] ChrX:48649606..48649607 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(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	Autism [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
NM_002049.4(GATA1):c.650G>C (p.Arg217Thr)	single nucleotide variant	not provided [RCV001532677]	ChrX:48792374 [GRCh38] ChrX:48650781 [GRCh37] ChrX:Xp11.23	likely pathogenic\|uncertain significance
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	likely benign\|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]\|GATA1-related disorder [RCV003918390]	ChrX:48791984 [GRCh38] ChrX:48650391 [GRCh37] ChrX:Xp11.23	benign\|likely benign
NM_002049.4(GATA1):c.1045G>A (p.Val349Met)	single nucleotide variant	Diamond-Blackfan anemia [RCV001517671]\|Inborn genetic diseases [RCV004619441]\|not provided [RCV000866495]	ChrX:48793967 [GRCh38] ChrX:48652374 [GRCh37] ChrX:Xp11.23	benign\|likely benign\|uncertain significance
NM_002049.4(GATA1):c.150G>A (p.Pro50=)	single nucleotide variant	Diamond-Blackfan anemia [RCV000946004]\|not provided [RCV004704360]	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	Diamond-Blackfan anemia [RCV001399187]	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_002049.4(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	Diamond-Blackfan anemia [RCV002064792]	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]\|not specified [RCV001816961]	ChrX:48791202 [GRCh38] ChrX:48649609 [GRCh37] ChrX:Xp11.23	benign\|uncertain significance
46,Y,inv(X)(p21.1q13.3)	inversion	Elevated circulating creatine kinase concentration [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]\|GATA1-related disorder [RCV003928340]\|not provided [RCV003437449]\|not specified [RCV001816940]	ChrX:48791310 [GRCh38] ChrX:48649717 [GRCh37] ChrX:Xp11.23	benign\|likely benign
NM_002049.4(GATA1):c.942A>G (p.Lys314=)	single nucleotide variant	Diamond-Blackfan anemia [RCV000868358]\|GATA1-related disorder [RCV003938285]	ChrX:48793864 [GRCh38] ChrX:48652271 [GRCh37] ChrX:Xp11.23	benign\|likely benign
NM_002049.4(GATA1):c.870+8C>T	single nucleotide variant	Diamond-Blackfan anemia [RCV000875456]\|GATA1-related disorder [RCV003920444]	ChrX:48793305 [GRCh38] ChrX:48651712 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.166_187dup (p.Tyr63fs)	duplication	Diamond-Blackfan anemia [RCV000801573]	ChrX:48791272..48791273 [GRCh38] ChrX:48649679..48649680 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(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	Diamond-Blackfan anemia [RCV001520965]\|GATA1-related disorder [RCV003920446]	ChrX:48792473 [GRCh38] ChrX:48650880 [GRCh37] ChrX:Xp11.23	benign\|likely benign
NM_002049.4(GATA1):c.745-9G>A	single nucleotide variant	Diamond-Blackfan anemia [RCV000863327]\|not specified [RCV004702480]	ChrX:48793163 [GRCh38] ChrX:48651570 [GRCh37] ChrX:Xp11.23	benign\|likely 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	Diamond-Blackfan anemia [RCV001423446]	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]\|not specified [RCV001816944]	ChrX:48792194 [GRCh38] ChrX:48650601 [GRCh37] ChrX:Xp11.23	benign\|uncertain significance
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_002049.4(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]\|Down syndrome [RCV002504289]\|GATA1-related disorder [RCV003398968]	ChrX:48791144 [GRCh38] ChrX:48649551 [GRCh37] ChrX:Xp11.23	pathogenic\|likely 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_002049.4(GATA1):c.652G>A (p.Asp218Asn)	single nucleotide variant	Macrothrombocytopenia [RCV000852178]\|Thrombocytopenia, X-linked, with or without dyserythropoietic anemia [RCV002245660]	ChrX:48792376 [GRCh38] ChrX:48650783 [GRCh37] ChrX:Xp11.23	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
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
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_002049.4(GATA1):c.598G>A (p.Glu200Lys)	single nucleotide variant	not provided [RCV003234439]	ChrX:48792221 [GRCh38] ChrX:48650628 [GRCh37] ChrX:Xp11.23	likely pathogenic
NC_000023.10:g.(?_48649517)_(48652571_?)dup	duplication	Diamond-Blackfan anemia [RCV003107580]	ChrX:48649517..48652571 [GRCh37] ChrX:Xp11.23	uncertain significance
NC_000023.10:g.(?_48542243)_(48652571_?)del	deletion	Diamond-Blackfan anemia [RCV003107581]	ChrX:48542243..48652571 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(GATA1):c.282C>T (p.Ala94=)	single nucleotide variant	Diamond-Blackfan anemia [RCV001457761]	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.-19-70dup	duplication	not provided [RCV001688721]	ChrX:48791018..48791019 [GRCh38] ChrX:48649426..48649427 [GRCh37] ChrX:Xp11.23	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 Xp22.33-q28(chrX:60000-155234966)x1	copy number loss	not provided [RCV001537933]	ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28	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]\|Down syndrome [RCV002491668]	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
NM_002049.4(GATA1):c.661G>A (p.Gly221Ser)	single nucleotide variant	not provided [RCV001311069]	ChrX:48792385 [GRCh38] ChrX:48650792 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.151_186delinsT (p.Ser51fs)	indel	Transient myeloproliferative syndrome [RCV001293753]	ChrX:48791260..48791295 [GRCh38] ChrX:48649667..48649702 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(GATA1):c.159_171dup (p.Ala58fs)	duplication	Acute megakaryoblastic leukemia in down syndrome [RCV001293763]	ChrX:48791267..48791268 [GRCh38] ChrX:48649674..48649675 [GRCh37] ChrX:Xp11.23	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	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 Xp22.33-11.22(chrX:168546-52573789)	copy number loss	Turner syndrome [RCV002280669]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
NC_000023.10:g.(?_48382160)_(49856876_?)dup	duplication	Neurodegeneration with brain iron accumulation 5 [RCV001305099]\|SLC35A2-congenital disorder of glycosylation [RCV001308190]	ChrX:48382160..49856876 [GRCh37] ChrX:Xp11.23-11.22	uncertain significance
NM_002049.4(GATA1):c.283G>A (p.Gly95Ser)	single nucleotide variant	Diamond-Blackfan anemia [RCV001317650]	ChrX:48791906 [GRCh38] ChrX:48650313 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.4dup (p.Glu2fs)	duplication	Transient myeloproliferative syndrome [RCV001293754]	ChrX:48791111..48791112 [GRCh38] ChrX:48649518..48649519 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(GATA1):c.115_116insGGGGCTTGGATGCAGCAGCTTCCTGCACTGCCCCGAGCACAGCCACCGCTGCAGCTGCGGCCTG (p.Glu39delinsGlyGlyLeuAspAlaAlaAlaSerCysThrAlaProSerThrAlaThrAlaAlaAlaAlaAlaTer)	insertion	Acute megakaryoblastic leukemia in down syndrome [RCV001293759]	ChrX:48791218..48791219 [GRCh38] ChrX:48649625..48649626 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(GATA1):c.219del (p.Val74fs)	deletion	Transient myeloproliferative syndrome [RCV001293752]	ChrX:48791328 [GRCh38] ChrX:48649735 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(GATA1):c.219A>G (p.Pro73=)	single nucleotide variant	Acute megakaryoblastic leukemia in down syndrome [RCV001293766]	ChrX:48791328 [GRCh38] ChrX:48649735 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(GATA1):c.1067G>T (p.Gly356Val)	single nucleotide variant	Diamond-Blackfan anemia [RCV001320806]	ChrX:48793989 [GRCh38] ChrX:48652396 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.1232T>C (p.Leu411Pro)	single nucleotide variant	Diamond-Blackfan anemia [RCV001325547]	ChrX:48794154 [GRCh38] ChrX:48652561 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2	copy number gain	not provided [RCV001537899]	ChrX:47179068..54424785 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
NM_002049.4(GATA1):c.157_158insTG (p.Ala53fs)	insertion	Diamond-Blackfan anemia [RCV001382576]	ChrX:48791265..48791266 [GRCh38] ChrX:48649672..48649673 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(GATA1):c.142_149dup (p.Ser51fs)	duplication	Acute megakaryoblastic leukemia in down syndrome [RCV001293762]	ChrX:48791248..48791249 [GRCh38] ChrX:48649655..48649656 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(GATA1):c.889A>T (p.Met297Leu)	single nucleotide variant	Diamond-Blackfan anemia [RCV001347334]	ChrX:48793811 [GRCh38] ChrX:48652218 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.485C>T (p.Ala162Val)	single nucleotide variant	Diamond-Blackfan anemia [RCV001363250]\|Inborn genetic diseases [RCV004036870]	ChrX:48792108 [GRCh38] ChrX:48650515 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.595T>C (p.Cys199Arg)	single nucleotide variant	Diamond-Blackfan anemia [RCV001347594]	ChrX:48792218 [GRCh38] ChrX:48650625 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.220+2T>C	single nucleotide variant	not provided [RCV002284344]	ChrX:48791331 [GRCh38] ChrX:48649738 [GRCh37] ChrX:Xp11.23	likely pathogenic
NM_002049.4(GATA1):c.145G>A (p.Ala49Thr)	single nucleotide variant	Diamond-Blackfan anemia [RCV001324963]	ChrX:48791254 [GRCh38] ChrX:48649661 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.338G>T (p.Arg113Leu)	single nucleotide variant	Diamond-Blackfan anemia [RCV001295217]	ChrX:48791961 [GRCh38] ChrX:48650368 [GRCh37] ChrX:Xp11.23	likely benign\|uncertain significance
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
NM_002049.4(GATA1):c.1046T>C (p.Val349Ala)	single nucleotide variant	Diamond-Blackfan anemia [RCV001352518]\|Inborn genetic diseases [RCV004036688]	ChrX:48793968 [GRCh38] ChrX:48652375 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.147C>A (p.Ala49=)	single nucleotide variant	Diamond-Blackfan anemia [RCV001494553]	ChrX:48791256 [GRCh38] ChrX:48649663 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.49_50del (p.Gln17fs)	deletion	Transient myeloproliferative syndrome [RCV001293751]	ChrX:48791158..48791159 [GRCh38] ChrX:48649565..48649566 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(GATA1):c.175_193dup (p.Asp65fs)	duplication	Acute megakaryoblastic leukemia in down syndrome [RCV001293755]	ChrX:48791282..48791283 [GRCh38] ChrX:48649689..48649690 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs)	microsatellite	Diamond-Blackfan anemia [RCV001380159]\|Down syndrome [RCV002246360]	ChrX:48791851..48791852 [GRCh38] ChrX:48650258..48650259 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(GATA1):c.3G>T (p.Met1Ile)	single nucleotide variant	Diamond-Blackfan anemia [RCV001380283]	ChrX:48791112 [GRCh38] ChrX:48649519 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(GATA1):c.1176C>G (p.Gly392=)	single nucleotide variant	Diamond-Blackfan anemia [RCV001515767]	ChrX:48794098 [GRCh38] ChrX:48652505 [GRCh37] ChrX:Xp11.23	benign
NM_002049.4(GATA1):c.105dup (p.Ser36fs)	duplication	Diamond-Blackfan anemia [RCV001380656]	ChrX:48791210..48791211 [GRCh38] ChrX:48649617..48649618 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(GATA1):c.173C>T (p.Ala58Val)	single nucleotide variant	Diamond-Blackfan anemia [RCV001517163]\|not provided [RCV003132511]	ChrX:48791282 [GRCh38] ChrX:48649689 [GRCh37] ChrX:Xp11.23	benign\|uncertain significance
NM_002049.4(GATA1):c.600G>A (p.Glu200=)	single nucleotide variant	Diamond-Blackfan anemia [RCV001512608]	ChrX:48792324 [GRCh38] ChrX:48650731 [GRCh37] ChrX:Xp11.23	benign
NM_002049.4(GATA1):c.1041G>A (p.Gly347=)	single nucleotide variant	Diamond-Blackfan anemia [RCV001446067]	ChrX:48793963 [GRCh38] ChrX:48652370 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.220+10T>C	single nucleotide variant	Diamond-Blackfan anemia [RCV001444846]	ChrX:48791339 [GRCh38] ChrX:48649746 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.90_91del (p.Val32fs)	deletion	Diamond-Blackfan anemia [RCV001380655]	ChrX:48791199..48791200 [GRCh38] ChrX:48649606..48649607 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(GATA1):c.360C>T (p.Ala120=)	single nucleotide variant	Diamond-Blackfan anemia [RCV001406373]	ChrX:48791983 [GRCh38] ChrX:48650390 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.678C>T (p.Asn226=)	single nucleotide variant	Diamond-Blackfan anemia [RCV001515442]	ChrX:48792402 [GRCh38] ChrX:48650809 [GRCh37] ChrX:Xp11.23	benign
NM_002049.4(GATA1):c.1170C>G (p.Pro390=)	single nucleotide variant	Diamond-Blackfan anemia [RCV001516833]	ChrX:48794092 [GRCh38] ChrX:48652499 [GRCh37] ChrX:Xp11.23	benign
NM_002049.4(GATA1):c.1208C>T (p.Thr403Ile)	single nucleotide variant	Diamond-Blackfan anemia [RCV001517980]	ChrX:48794130 [GRCh38] ChrX:48652537 [GRCh37] ChrX:Xp11.23	benign
NM_002049.4(GATA1):c.534C>A (p.Ser178Arg)	single nucleotide variant	Diamond-Blackfan anemia [RCV001467079]	ChrX:48792157 [GRCh38] ChrX:48650564 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.740G>A (p.Arg247His)	single nucleotide variant	Diamond-Blackfan anemia [RCV001467478]	ChrX:48792464 [GRCh38] ChrX:48650871 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.-19-42=	single nucleotide variant	not provided [RCV001714584]	ChrX:48791049 [GRCh38] ChrX:48649456 [GRCh37] ChrX:Xp11.23	benign
NM_002049.4(GATA1):c.1157T>C (p.Leu386Pro)	single nucleotide variant	Diamond-Blackfan anemia [RCV001512605]\|GATA1-related disorder [RCV003416377]	ChrX:48794079 [GRCh38] ChrX:48652486 [GRCh37] ChrX:Xp11.23	benign\|uncertain significance
NM_002049.4(GATA1):c.598+3G>A	single nucleotide variant	Diamond-Blackfan anemia [RCV001519756]	ChrX:48792224 [GRCh38] ChrX:48650631 [GRCh37] ChrX:Xp11.23	benign
NM_002049.4(GATA1):c.192G>A (p.Arg64=)	single nucleotide variant	Diamond-Blackfan anemia [RCV001499367]	ChrX:48791301 [GRCh38] ChrX:48649708 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.594C>A (p.Pro198=)	single nucleotide variant	Diamond-Blackfan anemia [RCV001518152]	ChrX:48792217 [GRCh38] ChrX:48650624 [GRCh37] ChrX:Xp11.23	benign
NM_002049.4(GATA1):c.1005G>A (p.Met335Ile)	single nucleotide variant	Diamond-Blackfan anemia [RCV003109066]	ChrX:48793927 [GRCh38] ChrX:48652334 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.413C>T (p.Thr138Ile)	single nucleotide variant	Diamond-Blackfan anemia [RCV003772066]\|not provided [RCV001755434]	ChrX:48792036 [GRCh38] ChrX:48650443 [GRCh37] ChrX:Xp11.23	uncertain significance
Single allele	complex	Turner syndrome [RCV002280670]	ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_002049.4(GATA1):c.789G>A (p.Thr263=)	single nucleotide variant	not provided [RCV001815984]	ChrX:48793216 [GRCh38] ChrX:48651623 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.871-7T>C	single nucleotide variant	Diamond-Blackfan anemia [RCV002077292]\|not provided [RCV002261388]\|not specified [RCV001819283]	ChrX:48793786 [GRCh38] ChrX:48652193 [GRCh37] ChrX:Xp11.23	benign\|uncertain significance
NM_002049.4(GATA1):c.890T>C (p.Met297Thr)	single nucleotide variant	not provided [RCV003132539]\|not specified [RCV001822786]	ChrX:48793812 [GRCh38] ChrX:48652219 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.290C>T (p.Ala97Val)	single nucleotide variant	Diamond-Blackfan anemia [RCV002011854]	ChrX:48791913 [GRCh38] ChrX:48650320 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.230T>G (p.Val77Gly)	single nucleotide variant	Diamond-Blackfan anemia [RCV001870194]	ChrX:48791853 [GRCh38] ChrX:48650260 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.482G>C (p.Ser161Thr)	single nucleotide variant	Diamond-Blackfan anemia [RCV002041991]	ChrX:48792105 [GRCh38] ChrX:48650512 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.302C>T (p.Thr101Met)	single nucleotide variant	Diamond-Blackfan anemia [RCV002050549]	ChrX:48791925 [GRCh38] ChrX:48650332 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV001834509]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	not provided [RCV001829212]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_002049.4(GATA1):c.1177T>C (p.Ser393Pro)	single nucleotide variant	Diamond-Blackfan anemia [RCV001880806]	ChrX:48794099 [GRCh38] ChrX:48652506 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.1036T>C (p.Cys346Arg)	single nucleotide variant	Diamond-Blackfan anemia [RCV001954536]\|not provided [RCV003130605]	ChrX:48793958 [GRCh38] ChrX:48652365 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.893G>A (p.Arg298Gln)	single nucleotide variant	Diamond-Blackfan anemia [RCV001967196]\|Down syndrome [RCV002491967]	ChrX:48793815 [GRCh38] ChrX:48652222 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.373G>A (p.Asp125Asn)	single nucleotide variant	Diamond-Blackfan anemia [RCV001911894]	ChrX:48791996 [GRCh38] ChrX:48650403 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.211C>T (p.His71Tyr)	single nucleotide variant	Diamond-Blackfan anemia [RCV001915673]	ChrX:48791320 [GRCh38] ChrX:48649727 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.173_174insCGCTGCGC (p.Leu60fs)	insertion	Diamond-Blackfan anemia [RCV001936156]	ChrX:48791280..48791281 [GRCh38] ChrX:48649687..48649688 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(GATA1):c.221-4A>G	single nucleotide variant	Diamond-Blackfan anemia [RCV001936058]	ChrX:48791840 [GRCh38] ChrX:48650247 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.192_196del (p.Arg64fs)	deletion	Diamond-Blackfan anemia [RCV001945418]	ChrX:48791300..48791304 [GRCh38] ChrX:48649707..48649711 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(GATA1):c.920G>A (p.Arg307His)	single nucleotide variant	Diamond-Blackfan anemia [RCV001917899]\|Hemolytic anemia due to erythrocyte adenosine deaminase overproduction [RCV002264832]	ChrX:48793842 [GRCh38] ChrX:48652249 [GRCh37] ChrX:Xp11.23	pathogenic\|uncertain significance
NM_002049.4(GATA1):c.343G>T (p.Asp115Tyr)	single nucleotide variant	Diamond-Blackfan anemia [RCV001965970]	ChrX:48791966 [GRCh38] ChrX:48650373 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.196G>C (p.Ala66Pro)	single nucleotide variant	Diamond-Blackfan anemia [RCV001906685]	ChrX:48791305 [GRCh38] ChrX:48649712 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.727C>T (p.Arg243Trp)	single nucleotide variant	Diamond-Blackfan anemia [RCV001909770]	ChrX:48792451 [GRCh38] ChrX:48650858 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.599-9C>T	single nucleotide variant	Diamond-Blackfan anemia [RCV002207154]\|Down syndrome [RCV002494111]	ChrX:48792314 [GRCh38] ChrX:48650721 [GRCh37] ChrX:Xp11.23	benign\|likely benign
NM_002049.4(GATA1):c.212A>C (p.His71Pro)	single nucleotide variant	Diamond-Blackfan anemia [RCV002074914]	ChrX:48791321 [GRCh38] ChrX:48649728 [GRCh37] ChrX:Xp11.23	benign
NM_002049.4(GATA1):c.220+12G>A	single nucleotide variant	Diamond-Blackfan anemia [RCV002185270]	ChrX:48791341 [GRCh38] ChrX:48649748 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.1179C>T (p.Ser393=)	single nucleotide variant	Diamond-Blackfan anemia [RCV002105278]	ChrX:48794101 [GRCh38] ChrX:48652508 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.561T>C (p.Ser187=)	single nucleotide variant	Diamond-Blackfan anemia [RCV002079630]	ChrX:48792184 [GRCh38] ChrX:48650591 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.220+13A>C	single nucleotide variant	Diamond-Blackfan anemia [RCV002186935]	ChrX:48791342 [GRCh38] ChrX:48649749 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.237A>G (p.Pro79=)	single nucleotide variant	Diamond-Blackfan anemia [RCV002187133]	ChrX:48791860 [GRCh38] ChrX:48650267 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.220+17G>T	single nucleotide variant	Diamond-Blackfan anemia [RCV002104629]	ChrX:48791346 [GRCh38] ChrX:48649753 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.1067G>A (p.Gly356Asp)	single nucleotide variant	Diamond-Blackfan anemia [RCV002190089]\|Inborn genetic diseases [RCV002560775]	ChrX:48793989 [GRCh38] ChrX:48652396 [GRCh37] ChrX:Xp11.23	benign\|uncertain significance
NM_002049.4(GATA1):c.711G>A (p.Gln237=)	single nucleotide variant	Diamond-Blackfan anemia [RCV002115570]	ChrX:48792435 [GRCh38] ChrX:48650842 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.39G>A (p.Glu13=)	single nucleotide variant	Diamond-Blackfan anemia [RCV002113227]	ChrX:48791148 [GRCh38] ChrX:48649555 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.1188A>C (p.Thr396=)	single nucleotide variant	Diamond-Blackfan anemia [RCV002218432]	ChrX:48794110 [GRCh38] ChrX:48652517 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.397C>T (p.Leu133=)	single nucleotide variant	Diamond-Blackfan anemia [RCV002100223]	ChrX:48792020 [GRCh38] ChrX:48650427 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.1029C>T (p.Ser343=)	single nucleotide variant	Diamond-Blackfan anemia [RCV002082458]	ChrX:48793951 [GRCh38] ChrX:48652358 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.1230G>A (p.Pro410=)	single nucleotide variant	Diamond-Blackfan anemia [RCV002122995]	ChrX:48794152 [GRCh38] ChrX:48652559 [GRCh37] ChrX:Xp11.23	benign
NM_002049.4(GATA1):c.599-16_599-14del	microsatellite	Diamond-Blackfan anemia [RCV002122998]	ChrX:48792304..48792306 [GRCh38] ChrX:48650711..48650713 [GRCh37] ChrX:Xp11.23	benign
NM_002049.4(GATA1):c.158C>A (p.Ala53Asp)	single nucleotide variant	Diamond-Blackfan anemia [RCV002083387]	ChrX:48791267 [GRCh38] ChrX:48649674 [GRCh37] ChrX:Xp11.23	benign
NM_002049.4(GATA1):c.949C>A (p.Arg317=)	single nucleotide variant	Diamond-Blackfan anemia [RCV002181782]	ChrX:48793871 [GRCh38] ChrX:48652278 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.216C>T (p.Ser72=)	single nucleotide variant	Diamond-Blackfan anemia [RCV002164586]	ChrX:48791325 [GRCh38] ChrX:48649732 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.599-13T>C	single nucleotide variant	Diamond-Blackfan anemia [RCV002123325]	ChrX:48792310 [GRCh38] ChrX:48650717 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.295G>A (p.Gly99Ser)	single nucleotide variant	Diamond-Blackfan anemia [RCV002136944]	ChrX:48791918 [GRCh38] ChrX:48650325 [GRCh37] ChrX:Xp11.23	benign
NM_002049.4(GATA1):c.1059G>C (p.Leu353=)	single nucleotide variant	Diamond-Blackfan anemia [RCV002081650]	ChrX:48793981 [GRCh38] ChrX:48652388 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.480T>C (p.Asn160=)	single nucleotide variant	Diamond-Blackfan anemia [RCV002123453]	ChrX:48792103 [GRCh38] ChrX:48650510 [GRCh37] ChrX:Xp11.23	likely benign
NM_002049.4(GATA1):c.663C>G (p.Gly221=)	single nucleotide variant	Diamond-Blackfan anemia [RCV002162510]	ChrX:48792387 [GRCh38] ChrX:48650794 [GRCh37] ChrX:Xp11.23	benign
NC_000023.10:g.(?_48368209)_(51241672_?)dup	duplication	Neurodegeneration with brain iron accumulation 5 [RCV004579591]\|SLC35A2-congenital disorder of glycosylation [RCV004579592]\|X-linked severe congenital neutropenia [RCV003111119]	ChrX:48368209..51241672 [GRCh37] ChrX:Xp11.23-11.22	uncertain significance
NC_000023.10:g.(?_46466387)_(50659607_?)del	deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV003116676]	ChrX:46466387..50659607 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
NC_000023.10:g.(?_48368209)_(51241672_?)del	deletion	not provided [RCV003116321]	ChrX:48368209..51241672 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
NC_000023.10:g.(?_47001716)_(50659607_?)dup	duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV003122411]\|Neurodegeneration with brain iron accumulation 5 [RCV003105408]\|SLC35A2-congenital disorder of glycosylation [RCV003122412]	ChrX:47001716..50659607 [GRCh37] ChrX:Xp11.23-11.22	uncertain significance
NM_002049.4(GATA1):c.507C>T (p.Ser169=)	single nucleotide variant	Diamond-Blackfan anemia [RCV003778700]\|not provided [RCV003130987]	ChrX:48792130 [GRCh38] ChrX:48650537 [GRCh37] ChrX:Xp11.23	likely benign\|uncertain significance
NM_002049.4(GATA1):c.685G>A (p.Gly229Ser)	single nucleotide variant	not provided [RCV003130988]	ChrX:48792409 [GRCh38] ChrX:48650816 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number gain	46,XX sex reversal 1 [RCV002280665]\|Hypotonia [RCV002280667]\|Trisomy X syndrome [RCV002280666]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	copy number loss	Turner syndrome [RCV002280671]	ChrX:168546..57841304 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	copy number loss	See cases [RCV002286357]	ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28	pathogenic
NM_002049.4(GATA1):c.865C>T (p.His289Tyr)	single nucleotide variant	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia [RCV002281011]	ChrX:48793292 [GRCh38] ChrX:48651699 [GRCh37] ChrX:Xp11.23	pathogenic
NM_002049.4(GATA1):c.679G>A (p.Ala227Thr)	single nucleotide variant	Thrombocytopenia, X-linked, with or without dyserythropoietic anemia [RCV002284152]	ChrX:48792403 [GRCh38] ChrX:48650810 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_002049.4(GATA1):c.677A>G (p.Asn226Ser)	single nucleotide variant	not provided [RCV002261657]	ChrX:48792401 [GRCh38] ChrX:48650808 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_002049.4(GATA1):c.1191C>T (p.Gly397=)	single nucleotide variant	Diamond-Blackfan anemia [RCV002771430]	ChrX:48794113 [GRCh38] ChrX:48652520 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	copy number gain	not provided [RCV002474503]	ChrX:39525562..52832596 [GRCh37] ChrX:Xp11.4-11.22	pathogenic
NM_002049.4(GATA1):c.428C>T (p.Pro143Leu)	single nucleotide variant	Diamond-Blackfan anemia [RCV002614241]	ChrX:48792051 [GRCh38] ChrX

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