ESX1 (ESX homeobox 1) - Rat Genome Database

Name: ESX1
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: ESX1 (ESX homeobox 1) Homo sapiens

Analyze

Symbol:

ESX1

Name:

ESX homeobox 1

RGD ID:

1350335

HGNC Page

HGNC:14865

Description:

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II and regulation of cell cycle. Located in cytoplasm and nuclear speck.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ESX1-related protein; ESX1L; ESXR1; extraembryonic, spermatogenesis, homeobox 1 homolog; extraembryonic, spermatogenesis, homeobox 1-like; homeobox protein ESX1

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Esx1 (extraembryonic, spermatogenesis, homeobox 1)	HGNC	Ensembl, HGNC, Inparanoid, NCBI, OrthoMCL, Treefam
Rattus norvegicus (Norway rat):	Esx1 (ESX homeobox 1)	HGNC	Ensembl, NCBI
Chinchilla lanigera (long-tailed chinchilla):	Esx1 (ESX homeobox 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ESX1 (ESX homeobox 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	ESX1 (ESX homeobox 1)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Esx1 (ESX homeobox 1)	NCBI	Ortholog
Sus scrofa (pig):	ESX1 (ESX homeobox 1)	HGNC	NCBI
Chlorocebus sabaeus (green monkey):	ESX1 (ESX homeobox 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Esx1 (ESX homeobox 1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Esx1 (ESX homeobox 1)	Alliance	DIOPT (HGNC)
Mus musculus (house mouse):	Esx1 (extraembryonic, spermatogenesis, homeobox 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OrthoFinder\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG11294	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Drosophila melanogaster (fruit fly):	CG32532	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Caenorhabditis elegans (roundworm):	unc-42	Alliance	DIOPT (Ensembl Compara\|PANTHER)
Caenorhabditis elegans (roundworm):	ceh-54	Alliance	DIOPT (Ensembl Compara\|PANTHER)

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	104,250,038 - 104,254,933 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	104,250,038 - 104,254,933 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	103,494,719 - 103,499,614 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	103,381,375 - 103,386,244 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	103,300,864 - 103,305,733	NCBI
Celera	X	103,969,308 - 103,974,187 (-)	NCBI		Celera
Cytogenetic Map	X	q22.2	NCBI
HuRef	X	93,122,628 - 93,127,081 (-)	NCBI		HuRef
CHM1_1	X	103,405,584 - 103,410,463 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	X	102,681,196 - 102,686,063 (-)	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

autistic disorder (IAGP)

genetic disease (IAGP)

Pelizaeus-Merzbacher disease (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

all-trans-retinoic acid (ISO)

arsenous acid (EXP)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

butanal (EXP)

diarsenic trioxide (EXP)

entinostat (EXP)

mono(2-ethylhexyl) phthalate (ISO)

pentanal (EXP)

sodium arsenite (EXP)

valproic acid (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

blood vessel development (ISO)

labyrinthine layer blood vessel development (ISO)

labyrinthine layer morphogenesis (ISO)

negative regulation of DNA-templated transcription (IDA)

negative regulation of transcription by RNA polymerase II (IDA)

regulation of cell cycle (IDA)

regulation of DNA-templated transcription (IEA)

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

Cellular Component

chromatin (ISA)

cytoplasm (IDA,IEA)

nuclear speck (IDA)

nucleus (IDA,IEA)

Molecular Function

DNA binding (IEA)

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

DNA-binding transcription repressor activity, RNA polymerase II-specific (IDA,IMP)

RNA polymerase II transcription regulatory region sequence-specific DNA binding (IBA,IMP)

sequence-specific DNA binding (IDA)

sequence-specific double-stranded DNA binding (IDA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autism (IAGP)

Sudanophilic leukodystrophy (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:11374906	PMID:12477932	PMID:14702039	PMID:15235584	PMID:15489334	PMID:15601583	PMID:15897875	PMID:16613891	PMID:17242862	PMID:17588961	PMID:19274049	PMID:20356899
PMID:21873635	PMID:21988832	PMID:25316452	PMID:28473536	PMID:29676528	PMID:31793700	PMID:33633269	PMID:37783880

Genomics

Comparative Map Data

ESX1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	104,250,038 - 104,254,933 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	104,250,038 - 104,254,933 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	103,494,719 - 103,499,614 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	103,381,375 - 103,386,244 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	103,300,864 - 103,305,733	NCBI
Celera	X	103,969,308 - 103,974,187 (-)	NCBI		Celera
Cytogenetic Map	X	q22.2	NCBI
HuRef	X	93,122,628 - 93,127,081 (-)	NCBI		HuRef
CHM1_1	X	103,405,584 - 103,410,463 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	X	102,681,196 - 102,686,063 (-)	NCBI		T2T-CHM13v2.0

Esx1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	136,016,146 - 136,022,880 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	136,016,146 - 136,022,832 (-)	Ensembl		GRCm39 Ensembl
GRCm38	X	137,115,397 - 137,122,131 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	137,115,397 - 137,122,083 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	133,649,936 - 133,654,865 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	132,461,761 - 132,466,535 (-)	NCBI		MGSCv36	mm8
MGSCv36	X	116,432,065 - 116,438,845 (-)	NCBI		MGSCv36	mm8
Celera	X	120,400,756 - 120,405,588 (-)	NCBI		Celera
Cytogenetic Map	X	F1	NCBI
cM Map	X	59.1	NCBI

Esx1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	105,241,568 - 105,246,733 (-)	NCBI		GRCr8
mRatBN7.2	X	100,449,298 - 100,454,452 (-)	NCBI	mRatBN7.2	mRatBN7.2
Rnor_6.0	X	107,753,614 - 107,763,561 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	X	107,631,880 - 107,642,235 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	X	101,276,096 - 101,278,936 (-)	NCBI		Celera
Cytogenetic Map	X	q32	NCBI

Esx1
(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	NW_004955548	1,087,441 - 1,095,070 (-)	NCBI	ChiLan1.0	ChiLan1.0

ESX1
(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	103,756,834 - 103,761,731 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	103,760,434 - 103,765,331 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	93,374,060 - 93,379,084 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	103,753,031 - 103,757,798 (-)	NCBI	panpan1.1	PanPan1.1	panPan2

ESX1
(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	77,608,014 - 77,612,715 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	77,608,016 - 77,612,784 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
ROS_Cfam_1.0	X	79,226,340 - 79,231,047 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	79,226,507 - 79,230,807 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	76,710,416 - 76,715,123 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	78,413,285 - 78,417,992 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	78,145,906 - 78,150,616 (-)	NCBI		UU_Cfam_GSD_1.0

Esx1
(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	77,501,409 - 77,505,976 (-)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936499	10,151,988 - 10,156,349 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ESX1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	X	84,995,241 - 85,007,557 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	99,056,041 - 99,069,040 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ESX1
(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	92,130,102 - 92,136,252 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666065	17,043,676 - 17,048,224 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Esx1
(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 1.0	NW_004624803	12,854,472 - 12,860,621 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ESX1
24 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
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
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: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)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:10679-156013167)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-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 Xp11.21-q28(chrX:57372584-155996431)x1	copy number loss	See cases [RCV000051665]	ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28	pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	copy number loss	See cases [RCV000051666]	ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1	copy number loss	See cases [RCV000051668]	ChrX:77544283..110500317 [GRCh38] ChrX:76799762..109743545 [GRCh37] ChrX:76686418..109630201 [NCBI36] ChrX:Xq21.1-23	pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1	copy number loss	See cases [RCV000051713]	ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28	pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:101407698-106274188)x1	copy number loss	See cases [RCV000051715]	ChrX:101407698..106274188 [GRCh38] ChrX:100772737..105517404 [GRCh37] ChrX:100549342..105404060 [NCBI36] ChrX:Xq22.1-22.3	pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:102070552-108264804)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]\|See cases [RCV000051716]	ChrX:102070552..108264804 [GRCh38] ChrX:101325524..107508034 [GRCh37] ChrX:101212180..107394690 [NCBI36] ChrX:Xq22.1-22.3	pathogenic
GRCh38/hg38 Xq22.2-22.3(chrX:103350604-104513304)x0	copy number loss	See cases [RCV000051717]	ChrX:103350604..104513304 [GRCh38] ChrX:102605532..103757985 [GRCh37] ChrX:102492188..103644641 [NCBI36] ChrX:Xq22.2-22.3	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 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: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 Xq13.2-27.1(chrX:73008114-140201321)x4	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|See cases [RCV000052418]	ChrX:73008114..140201321 [GRCh38] ChrX:72227953..139283477 [GRCh37] ChrX:72144678..139111143 [NCBI36] ChrX:Xq13.2-27.1	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 Xq21.1-25(chrX:81261589-126519353)x3	copy number gain	See cases [RCV000052438]	ChrX:81261589..126519353 [GRCh38] ChrX:80517088..125653336 [GRCh37] ChrX:80403744..125481017 [NCBI36] ChrX:Xq21.1-25	pathogenic
GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3	copy number gain	See cases [RCV000052440]	ChrX:89372737..106174548 [GRCh38] ChrX:88627736..105418541 [GRCh37] ChrX:88514392..105305197 [NCBI36] ChrX:Xq21.31-22.3	pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:101620923-107632397)x3	copy number gain	See cases [RCV000052441]	ChrX:101620923..107632397 [GRCh38] ChrX:100875913..106875627 [GRCh37] ChrX:100762569..106762283 [NCBI36] ChrX:Xq22.1-22.3	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-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-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-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
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-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: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-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 Xq21.1-28(chrX:85123740-156022206)x3	copy number gain	See cases [RCV000133744]	ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28	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 Xq21.1-28(chrX:78605009-156016560)x1	copy number loss	See cases [RCV000134570]	ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28	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 Xq11.1-28(chrX:62712230-155978888)x3	copy number gain	See cases [RCV000134025]	ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28	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 Xq21.31-28(chrX:92222680-156016920)x1	copy number loss	See cases [RCV000135307]	ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	copy number loss	See cases [RCV000134958]	ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28	pathogenic
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 Xq21.1-28(chrX:77369933-156013167)x1	copy number loss	See cases [RCV000135454]	ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28	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-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 Xq21.33-28(chrX:94462929-156001635)x3	copy number gain	See cases [RCV000136552]	ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1	copy number loss	See cases [RCV000136083]	ChrX:79093152..156003229 [GRCh38] ChrX:78348649..155232894 [GRCh37] ChrX:78235305..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4	copy number gain	See cases [RCV000136029]	ChrX:100597687..111651116 [GRCh38] ChrX:99852684..110894344 [GRCh37] ChrX:99739340..110781000 [NCBI36] ChrX:Xq22.1-23	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 Xq13.3-28(chrX:75086417-156022206)x1	copy number loss	See cases [RCV000137113]	ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
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 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 Xq11.1-28(chrX:62561604-156003242)x3	copy number gain	See cases [RCV000137553]	ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1	copy number loss	See cases [RCV000137415]	ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	copy number loss	See cases [RCV000137138]	ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3	copy number gain	See cases [RCV000138020]	ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28	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 Xq21.1-28(chrX:79911061-156003229)x1	copy number loss	See cases [RCV000138787]	ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28	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 Xq21.1-28(chrX:82211310-156003229)x1	copy number loss	See cases [RCV000139400]	ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28	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 Xq21.31-28(chrX:88339926-156003242)x1	copy number loss	See cases [RCV000139351]	ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28	pathogenic\|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	copy number gain	See cases [RCV000139416]	ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic\|likely benign
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3	copy number gain	See cases [RCV000139204]	ChrX:93591590..112530092 [GRCh38] ChrX:92846589..111773320 [GRCh37] ChrX:92733245..111659976 [NCBI36] ChrX:Xq21.32-23	pathogenic
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 Xq21.33-22.3(chrX:95823036-104957737)x1	copy number loss	See cases [RCV000139979]	ChrX:95823036..104957737 [GRCh38] ChrX:95078035..104202418 [GRCh37] ChrX:94964691..104089074 [NCBI36] ChrX:Xq21.33-22.3	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-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 Xq21.1-28(chrX:82096719-156004066)x1	copy number loss	See cases [RCV000141825]	ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1	copy number loss	See cases [RCV000142016]	ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	copy number loss	See cases [RCV000141742]	ChrX:50289384..119297604 [GRCh38] ChrX:50032384..118431567 [GRCh37] ChrX:50049124..118315595 [NCBI36] ChrX:Xp11.22-q24	pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1	copy number loss	See cases [RCV000142372]	ChrX:81109470..109442793 [GRCh38] ChrX:80364969..108686022 [GRCh37] ChrX:80251625..108572678 [NCBI36] ChrX:Xq21.1-23	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1	copy number loss	See cases [RCV000142337]	ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1	copy number loss	See cases [RCV000142037]	ChrX:86626431..156004066 [GRCh38] ChrX:85881434..155233731 [GRCh37] ChrX:85768090..154886925 [NCBI36] ChrX:Xq21.2-28	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 Xq22.2-22.3(chrX:104164387-105103297)x2	copy number gain	See cases [RCV000142960]	ChrX:104164387..105103297 [GRCh38] ChrX:103552340..104347979 [GRCh37] ChrX:103295724..104234635 [NCBI36] ChrX:Xq22.2-22.3	uncertain significance
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 Xq13.2-28(chrX:74684615-156004066)x1	copy number loss	See cases [RCV000143424]	ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	copy number loss	See cases [RCV000143349]	ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-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-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 Xq13.3-28(chrX:76557425-156004066)x1	copy number loss	See cases [RCV000143132]	ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28	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
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
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	copy number gain	See cases [RCV000240143]	ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28	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
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 Xq22.1-24(chrX:99931059-120328627)x1	copy number loss	Premature ovarian failure [RCV000225336]	ChrX:99931059..120328627 [GRCh37] ChrX:Xq22.1-24	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 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:60701-155246271)x3	copy number gain	See cases [RCV000239989]	ChrX:60701..155246271 [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 Xq11.1-28(chrX:62063537-155250222)x3	copy number gain	See cases [RCV000240148]	ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28	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
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:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [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
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 Xq21.33-28(chrX:94043221-155246585)x1	copy number loss	See cases [RCV000449365]	ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28	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 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-q28(chrX:318707-155224707)x1	copy number loss	See cases [RCV000446667]	ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq22.1-22.2(chrX:99611312-103506684)	copy number gain	See cases [RCV000447561]	ChrX:99611312..103506684 [GRCh37] ChrX:Xq22.1-22.2	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 Xp11.1-q28(chrX:58140271-155046703)x3	copy number gain	See cases [RCV000446151]	ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-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 Xp22.33-q28(chrX:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3	copy number gain	See cases [RCV000446318]	ChrX:95498487..129063677 [GRCh37] ChrX:Xq21.33-26.1	pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3	copy number gain	See cases [RCV000446471]	ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28	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 Xq13.2-27.1(chrX:72224362-139262228)x4	copy number gain	See cases [RCV000448394]	ChrX:72224362..139262228 [GRCh37] ChrX:Xq13.2-27.1	pathogenic
GRCh37/hg19 Xq22.2-22.3(chrX:103046942-104214535)x0	copy number loss	See cases [RCV000448347]	ChrX:103046942..104214535 [GRCh37] ChrX:Xq22.2-22.3	likely pathogenic
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)x2	copy number gain	See cases [RCV000448592]	ChrX:103158718..111556067 [GRCh37] ChrX:Xq22.2-23	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1	copy number loss	See cases [RCV000448870]	ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	copy number loss	See cases [RCV000510382]	ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28	pathogenic
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 Xq21.31-23(chrX:86776682-114054291)x1	copy number loss	See cases [RCV000511514]	ChrX:86776682..114054291 [GRCh37] ChrX:Xq21.31-23	pathogenic\|uncertain significance
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 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1	copy number loss	See cases [RCV000511482]	ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1	copy number loss	See cases [RCV000511490]	ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	copy number gain	See cases [RCV000511787]	ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1	copy number loss	See cases [RCV000510820]	ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286)	copy number loss	See cases [RCV000510947]	ChrX:74560735..116609286 [GRCh37] ChrX:Xq13.3-24	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	copy number gain	See cases [RCV000510826]	ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	copy number gain	See cases [RCV000511307]	ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
NM_153448.4(ESX1):c.245C>G (p.Pro82Arg)	single nucleotide variant	Inborn genetic diseases [RCV003271409]	ChrX:104254415 [GRCh38] ChrX:103499096 [GRCh37] ChrX:Xq22.2	uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3	copy number gain	See cases [RCV000512365]	ChrX:96499476..151870013 [GRCh37] ChrX:Xq21.33-28	uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1	copy number loss	See cases [RCV000512372]	ChrX:98495811..155233731 [GRCh37] ChrX:Xq22.1-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	copy number gain	See cases [RCV000512173]	ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	copy number loss	not provided [RCV000684357]	ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28	pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	copy number loss	not provided [RCV000684363]	ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28	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 Xq13.2-28(chrX:73472626-155254881)x1	copy number loss	not provided [RCV000753606]	ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28	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
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [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:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	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
NM_153448.4(ESX1):c.1205C>T (p.Ala402Val)	single nucleotide variant	not provided [RCV001574012]	ChrX:104250244 [GRCh38] ChrX:103494925 [GRCh37] ChrX:Xq22.2	likely benign
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	copy number loss	not provided [RCV000846274]	ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	copy number loss	See cases [RCV002285075]	ChrX:77670699..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq22.1-22.3(chrX:102436725-105520605)x1	copy number loss	Early Onset Neurological Disease Trait [RCV000993773]	ChrX:102436725..105520605 [GRCh37] ChrX:Xq22.1-22.3	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	copy number loss	not provided [RCV001007322]	ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	copy number loss	not provided [RCV001007318]	ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	copy number loss	not provided [RCV000845672]	ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	copy number loss	not provided [RCV000848218]	ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_153448.4(ESX1):c.29G>A (p.Ser10Asn)	single nucleotide variant	Inborn genetic diseases [RCV003239742]	ChrX:104254821 [GRCh38] ChrX:103499502 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_153448.4(ESX1):c.959C>G (p.Pro320Arg)	single nucleotide variant	not provided [RCV000959725]	ChrX:104250490 [GRCh38] ChrX:103495171 [GRCh37] ChrX:Xq22.2	benign
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 Xq21.32-23(chrX:91829757-113050225)x1	copy number loss	Xq21.32q23 deletion [RCV001579312]	ChrX:91829757..113050225 [GRCh37] ChrX:Xq21.32-23	pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	copy number loss	not provided [RCV001259012]	ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	copy number gain	See cases [RCV001263024]	ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	copy number loss	not provided [RCV001259005]	ChrX:77514079..127770854 [GRCh37] ChrX:Xq21.1-25	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	copy number loss	Turner syndrome [RCV002280672]	ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	copy number gain	not provided [RCV001281359]	ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339)	copy number gain	not specified [RCV002053166]	ChrX:101982475..116885339 [GRCh37] ChrX:Xq22.1-24	pathogenic
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)	copy number gain	not specified [RCV002053170]	ChrX:103158718..111556067 [GRCh37] ChrX:Xq22.2-23	pathogenic
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
GRCh37/hg19 Xq22.2-22.3(chrX:103046942-104214535)	copy number loss	not specified [RCV002053169]	ChrX:103046942..104214535 [GRCh37] ChrX:Xq22.2-22.3	likely 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
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-q28(chrX:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	copy number gain	not provided [RCV002291535]	ChrX:76794355..119282836 [GRCh37] ChrX:Xq21.1-24	pathogenic
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	copy number loss	not provided [RCV002474518]	ChrX:93805850..118913329 [GRCh37] ChrX:Xq21.33-24	pathogenic
NC_000023.11:g.(?_103776506)_(103799000_104817980)del	deletion	Pelizaeus-Merzbacher disease [RCV000011827]	ChrX:103776506..103799000 [GRCh38] ChrX:Xq22.2-22.3	pathogenic
NC_000023.11:g.(103477300_103776506)_(104039333_104817980)dup	duplication	Pelizaeus-Merzbacher disease [RCV000011842]	ChrX:103776506..104039333 [GRCh38] ChrX:Xq22.2-22.3	pathogenic
NM_153448.4(ESX1):c.986G>A (p.Arg329His)	single nucleotide variant	Inborn genetic diseases [RCV002997521]	ChrX:104250463 [GRCh38] ChrX:103495144 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_153448.4(ESX1):c.1001C>A (p.Pro334Gln)	single nucleotide variant	Inborn genetic diseases [RCV002860595]	ChrX:104250448 [GRCh38] ChrX:103495129 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_153448.4(ESX1):c.163A>G (p.Thr55Ala)	single nucleotide variant	Inborn genetic diseases [RCV002924501]	ChrX:104254497 [GRCh38] ChrX:103499178 [GRCh37] ChrX:Xq22.2	likely benign
NM_153448.4(ESX1):c.475G>C (p.Asp159His)	single nucleotide variant	Inborn genetic diseases [RCV002694252]	ChrX:104254185 [GRCh38] ChrX:103498866 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_153448.4(ESX1):c.920C>T (p.Pro307Leu)	single nucleotide variant	Inborn genetic diseases [RCV002897240]	ChrX:104250529 [GRCh38] ChrX:103495210 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_153448.4(ESX1):c.295G>A (p.Glu99Lys)	single nucleotide variant	Inborn genetic diseases [RCV002723781]	ChrX:104254365 [GRCh38] ChrX:103499046 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_153448.4(ESX1):c.210C>G (p.Asp70Glu)	single nucleotide variant	Inborn genetic diseases [RCV003206645]	ChrX:104254450 [GRCh38] ChrX:103499131 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_153448.4(ESX1):c.368C>A (p.Pro123Gln)	single nucleotide variant	Inborn genetic diseases [RCV003210455]	ChrX:104254292 [GRCh38] ChrX:103498973 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_153448.4(ESX1):c.902C>T (p.Ala301Val)	single nucleotide variant	Inborn genetic diseases [RCV003191927]	ChrX:104250547 [GRCh38] ChrX:103495228 [GRCh37] ChrX:Xq22.2	likely benign
NM_153448.4(ESX1):c.686T>C (p.Leu229Pro)	single nucleotide variant	Inborn genetic diseases [RCV003308688]	ChrX:104250763 [GRCh38] ChrX:103495444 [GRCh37] ChrX:Xq22.2	uncertain significance
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	copy number loss	not provided [RCV003483927]	ChrX:91274467..126799984 [GRCh37] ChrX:Xq21.31-25	pathogenic
GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3	copy number gain	not provided [RCV003485308]	ChrX:96349060..106950847 [GRCh37] ChrX:Xq21.33-22.3	pathogenic
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	copy number gain	not provided [RCV003485304]	ChrX:77212972..118576590 [GRCh37] ChrX:Xq21.1-24	pathogenic
NM_153448.4(ESX1):c.1024GGGCCGCCCATGGCGCCTCTGCCACCC[2] (p.342GPPMAPLPP[2])	microsatellite	not provided [RCV003432287]	ChrX:104250318..104250371 [GRCh38] ChrX:103494999..103495052 [GRCh37] ChrX:Xq22.2	likely benign
NM_153448.4(ESX1):c.1069C>G (p.Leu357Val)	single nucleotide variant	not provided [RCV003432288]	ChrX:104250380 [GRCh38] ChrX:103495061 [GRCh37] ChrX:Xq22.2	likely benign
NM_153448.4(ESX1):c.865C>T (p.Pro289Ser)	single nucleotide variant	not provided [RCV003432291]	ChrX:104250584 [GRCh38] ChrX:103495265 [GRCh37] ChrX:Xq22.2	likely benign
NM_153448.4(ESX1):c.228T>C (p.Gly76=)	single nucleotide variant	ESX1-related condition [RCV003946623]\|not provided [RCV003432294]	ChrX:104254432 [GRCh38] ChrX:103499113 [GRCh37] ChrX:Xq22.2	likely benign
NM_153448.4(ESX1):c.234C>T (p.Gly78=)	single nucleotide variant	not provided [RCV003432293]	ChrX:104254426 [GRCh38] ChrX:103499107 [GRCh37] ChrX:Xq22.2	likely benign
NM_153448.4(ESX1):c.869G>C (p.Arg290Pro)	single nucleotide variant	not provided [RCV003432289]	ChrX:104250580 [GRCh38] ChrX:103495261 [GRCh37] ChrX:Xq22.2	likely benign
NM_153448.4(ESX1):c.889T>G (p.Trp297Gly)	single nucleotide variant	not provided [RCV003457613]	ChrX:104250560 [GRCh38] ChrX:103495241 [GRCh37] ChrX:Xq22.2	likely benign
NM_153448.4(ESX1):c.132G>T (p.Glu44Asp)	single nucleotide variant	not provided [RCV003432295]	ChrX:104254528 [GRCh38] ChrX:103499209 [GRCh37] ChrX:Xq22.2	likely benign
NM_153448.4(ESX1):c.867A>G (p.Pro289=)	single nucleotide variant	not provided [RCV003432290]	ChrX:104250582 [GRCh38] ChrX:103495263 [GRCh37] ChrX:Xq22.2	likely benign
NM_153448.4(ESX1):c.864G>C (p.Gly288=)	single nucleotide variant	not provided [RCV003432292]	ChrX:104250585 [GRCh38] ChrX:103495266 [GRCh37] ChrX:Xq22.2	likely benign
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	copy number loss	not specified [RCV003986202]	ChrX:103405294..155233731 [GRCh37] ChrX:Xq22.2-28	pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	copy number gain	not provided [RCV003885530]	ChrX:67292994..155240074 [GRCh37] ChrX:Xq12-28	pathogenic
NM_153448.4(ESX1):c.55G>T (p.Val19Phe)	single nucleotide variant	Inborn genetic diseases [RCV003175370]\|not provided [RCV003434721]	ChrX:104254795 [GRCh38] ChrX:103499476 [GRCh37] ChrX:Xq22.2	likely benign\|uncertain significance
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1	copy number loss	See cases [RCV000447490]	ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1	copy number loss	not provided [RCV000753556]	ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28	pathogenic
NC_000023.10:g.36649710_136649711del100000002insG	indel	Heterotaxy, visceral, 1, X-linked [RCV000754886]	ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3	pathogenic
GRCh37/hg19 Xq22.1-22.3(chrX:102066350-105409822)x1	copy number loss	Early Onset Neurological Disease Trait [RCV000993774]	ChrX:102066350..105409822 [GRCh37] ChrX:Xq22.1-22.3	pathogenic
GRCh37/hg19 Xq22.1-22.3(chrX:101029649-106702784)x1	copy number loss	Early Onset Neurological Disease Trait [RCV000993775]	ChrX:101029649..106702784 [GRCh37] ChrX:Xq22.1-22.3	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	90
Count of miRNA genes:	87
Interacting mature miRNAs:	90
Transcripts:	ENST00000372588
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

DXS1460

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	103,487,175 - 103,487,239	UniSTS	GRCh37
Build 36	X	103,373,831 - 103,373,895	RGD	NCBI36
Celera	X	103,961,764 - 103,961,828	RGD
Cytogenetic Map	X	q22.1	UniSTS
HuRef	X	93,114,709 - 93,114,773	UniSTS

Expression

RNA-SEQ Expression

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

	alimentary part of gastrointestinal system	circulatory system	endocrine system	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system	adipose tissue	appendage	entire extraembryonic component
High
Medium	3		1	1	2	1		3		1	348	5
Low	4		4	1	1	1	13	6	15	2	57	25	3		2
Below cutoff	275	374	173	44	106	30	647	216	617	28	187	192	17	238	354	1

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_016393	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_153448	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK097704	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL049631	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY114148	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC042633	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC053599	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471120	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695414	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695415	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695416	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695417	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695418	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695419	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695420	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695421	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695422	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695423	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695424	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695425	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695426	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695427	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695428	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695429	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695430	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695431	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695432	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695433	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695434	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695435	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695436	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695437	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695438	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695439	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695440	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695441	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695442	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695443	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695444	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EF695445	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000372588 ⟹ ENSP00000361669

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	104,250,038 - 104,254,933 (-)	Ensembl

RefSeq Acc Id:

NM_153448 ⟹ NP_703149

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	104,250,038 - 104,254,933 (-)	NCBI
GRCh37	X	103,494,719 - 103,499,599 (-)	ENTREZGENE
Build 36	X	103,381,375 - 103,386,244 (-)	NCBI Archive
HuRef	X	93,122,628 - 93,127,081 (-)	ENTREZGENE
CHM1_1	X	103,405,584 - 103,410,463 (-)	NCBI
T2T-CHM13v2.0	X	102,681,196 - 102,686,063 (-)	NCBI

Sequence:

show sequence

AGAGCCAGTTCCAACCCCGGGATCGCCGCGGAACCACGCACAGAGTCTGCAGAAGTGCACAGCT
TTATCGACAGCGCTTGAAGCATGGAGTCTCTTCGCGGGTACACCCACAGTGATATTGGCTACCG
CAGCCTGGCAGTCGGCGAGGACATCGAGGAAGTGAATGATGAGAAACTTACCGTGACCTCGCTG
ATGGCAAGGGGAGGAGAGGACGAGGAGAATACACGGTCCAAACCTGAGTACGGAACAGAAGCGG
AAAACAACGTTGGCACGGAAGGGTCCGTCCCCTCGGACGACCAAGACCGTGAGGGTGGCGGCGG
CCACGAGCCGGAGCAACAGCAGGAGGAGCCGCCCCTGACCAAGCCGGAGCAACAGCAGGAGGAG
CCGCCCCTGCTCGAGCTGAAGCAAGAGCAGGAGGAGCCGCCCCAGACGACCGTGGAGGGGCCAC
AGCCGGCGGAGGGGCCACAAACCGCTGAGGGACCACAGCCCCCAGAGAGGAAACGCCGCCGCCG
CACCGCGTTCACGCAGTTTCAGCTGCAGGAGCTAGAGAACTTTTTCGATGAATCTCAATATCCC
GACGTTGTGGCGCGAGAGAGACTTGCAGCACGCCTGAATTTGACTGAAGACAGAGTGCAGGTTT
GGTTTCAGAACAGAAGAGCCAAGTGGAAACGAAATCAGAGGGTGCTAATGTTGAGAAACACTGC
TACTGCTGACCTGGCCCACCCTTTGGACATGTTCTTGGGTGGGGCCTATTATGCTGCTCCTGCT
CTGGATCCTGCTTTGTGTGTTCATCTGGTGCCACAACTACCTAGACCACCTGTGCTGCCTGTGC
CACCTATGCCACCCAGGCCACCCATGGTCCCTATGCCACCCAGGCCACCCATAGCACCTATGCC
ACCCATGGCGCCTGTGCCACCCGGCTCACGCATGGCGCCTGTGCCACCCGGGCCACGCATGGCG
CCTGTGCCACCCTGGCCGCCCATGGCGCCTGTGCCACCCTGGCCGCCCATGGCGCCTGTGCCAA
CCGGGCCGCCCATGGCGCCTGTGCCACCCGGGCCGCCCATGGCGCGTGTGCCACCCGGGCCGCC
CATGGCGCGTGTGCCACCCGGGCCGCCCATGGCGCCTCTGCCACCCGGGCCGCCCATGGCGCCT
CTGCCACCCGGGCCGCCCATGGCGCCTCTGCCACCCGGGCCGCCCATGGCGCCTCTGCCACCCA
GGTCACATGTGCCTCACACTGGCCTGGCTCCTGTACACATCACATGGGCCCCTGTCATCAACAG
TTATTATGCATGTCCCTTTTTCTAAAGTAAGGTATTCATAACAGTTTTTCCAAAGTTCTTTCCT
GCCAGATAGAAATTGTGCACAGCACAGCATCAAGTAATTCGTTAGATGCTTGTTAAATGAAGTG
GGTAGGTGAACAAAGTTAACGAATGCCCTGTTATTTTTGTAGGCCACATAATTGTAGTATTTTC
AATAAAGATGTGACTTAATAGTA

hide sequence

Protein Sequences


Protein RefSeqs	NP_703149	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH42633	(Get FASTA)	NCBI Sequence Viewer
	AAH53599	(Get FASTA)	NCBI Sequence Viewer
	AAM62141	(Get FASTA)	NCBI Sequence Viewer
	ABS01452	(Get FASTA)	NCBI Sequence Viewer
	ABS01453	(Get FASTA)	NCBI Sequence Viewer
	ABS01454	(Get FASTA)	NCBI Sequence Viewer
	ABS01455	(Get FASTA)	NCBI Sequence Viewer
	ABS01456	(Get FASTA)	NCBI Sequence Viewer
	ABS01457	(Get FASTA)	NCBI Sequence Viewer
	ABS01458	(Get FASTA)	NCBI Sequence Viewer
	ABS01459	(Get FASTA)	NCBI Sequence Viewer
	ABS01460	(Get FASTA)	NCBI Sequence Viewer
	ABS01461	(Get FASTA)	NCBI Sequence Viewer
	ABS01462	(Get FASTA)	NCBI Sequence Viewer
	ABS01463	(Get FASTA)	NCBI Sequence Viewer
	ABS01464	(Get FASTA)	NCBI Sequence Viewer
	ABS01465	(Get FASTA)	NCBI Sequence Viewer
	ABS01466	(Get FASTA)	NCBI Sequence Viewer
	ABS01467	(Get FASTA)	NCBI Sequence Viewer
	ABS01468	(Get FASTA)	NCBI Sequence Viewer
	ABS01469	(Get FASTA)	NCBI Sequence Viewer
	ABS01470	(Get FASTA)	NCBI Sequence Viewer
	ABS01471	(Get FASTA)	NCBI Sequence Viewer
	ABS01472	(Get FASTA)	NCBI Sequence Viewer
	ABS01473	(Get FASTA)	NCBI Sequence Viewer
	ABS01474	(Get FASTA)	NCBI Sequence Viewer
	ABS01475	(Get FASTA)	NCBI Sequence Viewer
	ABS01476	(Get FASTA)	NCBI Sequence Viewer
	ABS01477	(Get FASTA)	NCBI Sequence Viewer
	ABS01478	(Get FASTA)	NCBI Sequence Viewer
	ABS01479	(Get FASTA)	NCBI Sequence Viewer
	ABS01480	(Get FASTA)	NCBI Sequence Viewer
	ABS01481	(Get FASTA)	NCBI Sequence Viewer
	ABS01482	(Get FASTA)	NCBI Sequence Viewer
	ABS01483	(Get FASTA)	NCBI Sequence Viewer
	EAX02755	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000361669
	ENSP00000361669.4
GenBank Protein	Q8N693	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_703149 ⟸ NM_153448

- UniProtKB:

B0QYU3 (UniProtKB/Swiss-Prot), Q7Z6K7 (UniProtKB/Swiss-Prot), Q8N693 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MESLRGYTHSDIGYRSLAVGEDIEEVNDEKLTVTSLMARGGEDEENTRSKPEYGTEAENNVGTE
GSVPSDDQDREGGGGHEPEQQQEEPPLTKPEQQQEEPPLLELKQEQEEPPQTTVEGPQPAEGPQ
TAEGPQPPERKRRRRTAFTQFQLQELENFFDESQYPDVVARERLAARLNLTEDRVQVWFQNRRA
KWKRNQRVLMLRNTATADLAHPLDMFLGGAYYAAPALDPALCVHLVPQLPRPPVLPVPPMPPRP
PMVPMPPRPPIAPMPPMAPVPPGSRMAPVPPGPRMAPVPPWPPMAPVPPWPPMAPVPTGPPMAP
VPPGPPMARVPPGPPMARVPPGPPMAPLPPGPPMAPLPPGPPMAPLPPGPPMAPLPPRSHVPHT
GLAPVHITWAPVINSYYACPFF

hide sequence

RefSeq Acc Id:

ENSP00000361669 ⟸ ENST00000372588

Protein Domains

Homeobox

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8N693-F1-model_v2	AlphaFold	Q8N693	1-406	view protein structure

Promoters

RGD ID:

13627766

Promoter ID:

EPDNEW_H29158

Type:

initiation region

Name:

ESX1_1

Description:

ESX homeobox 1

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	104,254,933 - 104,254,993	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:14865	AgrOrtholog
COSMIC	ESX1	COSMIC
Ensembl Genes	ENSG00000123576	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000372588	ENTREZGENE
	ENST00000372588.4	UniProtKB/Swiss-Prot
Gene3D-CATH	Homeodomain-like	UniProtKB/Swiss-Prot
GTEx	ENSG00000123576	GTEx
HGNC ID	HGNC:14865	ENTREZGENE
Human Proteome Map	ESX1	Human Proteome Map
InterPro	Homeobox-like_sf	UniProtKB/Swiss-Prot
	Homeobox_CS	UniProtKB/Swiss-Prot
	Homeobox_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	POU	UniProtKB/Swiss-Prot
KEGG Report	hsa:80712	UniProtKB/Swiss-Prot
NCBI Gene	80712	ENTREZGENE
OMIM	300154	OMIM
PANTHER	HOMEOBOX PROTEIN ARISTALESS	UniProtKB/Swiss-Prot
	HOMEOBOX PROTEIN ESX1	UniProtKB/Swiss-Prot
Pfam	Homeodomain	UniProtKB/Swiss-Prot
PharmGKB	PA27892	PharmGKB
PRINTS	POUDOMAIN	UniProtKB/Swiss-Prot
PROSITE	HOMEOBOX_1	UniProtKB/Swiss-Prot
	HOMEOBOX_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	HOX	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF46689	UniProtKB/Swiss-Prot
UniProt	A6ZIS2_HUMAN	UniProtKB/TrEMBL
	A6ZIS3_HUMAN	UniProtKB/TrEMBL
	A6ZIS4_HUMAN	UniProtKB/TrEMBL
	A6ZIS5_HUMAN	UniProtKB/TrEMBL
	A6ZIS6_HUMAN	UniProtKB/TrEMBL
	A6ZIS7_HUMAN	UniProtKB/TrEMBL
	A6ZIS8_HUMAN	UniProtKB/TrEMBL
	A6ZIS9_HUMAN	UniProtKB/TrEMBL
	A6ZIT0_HUMAN	UniProtKB/TrEMBL
	A6ZIT1_HUMAN	UniProtKB/TrEMBL
	A6ZIT2_HUMAN	UniProtKB/TrEMBL
	A6ZIT3_HUMAN	UniProtKB/TrEMBL
	A6ZIT4_HUMAN	UniProtKB/TrEMBL
	A6ZIT5_HUMAN	UniProtKB/TrEMBL
	A6ZIT6_HUMAN	UniProtKB/TrEMBL
	A6ZIT7_HUMAN	UniProtKB/TrEMBL
	A6ZIT8_HUMAN	UniProtKB/TrEMBL
	A6ZIT9_HUMAN	UniProtKB/TrEMBL
	A6ZIU0_HUMAN	UniProtKB/TrEMBL
	A6ZIU1_HUMAN	UniProtKB/TrEMBL
	A6ZIU2_HUMAN	UniProtKB/TrEMBL
	A6ZIU3_HUMAN	UniProtKB/TrEMBL
	A6ZIU4_HUMAN	UniProtKB/TrEMBL
	A6ZIU5_HUMAN	UniProtKB/TrEMBL
	A6ZIU6_HUMAN	UniProtKB/TrEMBL
	A6ZIU7_HUMAN	UniProtKB/TrEMBL
	A6ZIU8_HUMAN	UniProtKB/TrEMBL
	A6ZIU9_HUMAN	UniProtKB/TrEMBL
	A6ZIV0_HUMAN	UniProtKB/TrEMBL
	A6ZIV1_HUMAN	UniProtKB/TrEMBL
	A6ZIV2_HUMAN	UniProtKB/TrEMBL
	A6ZIV3_HUMAN	UniProtKB/TrEMBL
	B0QYU3	ENTREZGENE
	ESX1_HUMAN	UniProtKB/Swiss-Prot
	Q7Z6K7	ENTREZGENE
	Q8N693	ENTREZGENE
UniProt Secondary	B0QYU3	UniProtKB/Swiss-Prot
	Q7Z6K7	UniProtKB/Swiss-Prot

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

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

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

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

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Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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