TNMD (tenomodulin) - Rat Genome Database

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

Gene: TNMD (tenomodulin) Homo sapiens

Analyze

Symbol:

TNMD

Name:

tenomodulin

RGD ID:

731806

HGNC Page

HGNC:17757

Description:

Predicted to be involved in several processes, including cellular response to BMP stimulus; negative regulation of endothelial cell proliferation; and tendon cell differentiation. Predicted to act upstream of or within endothelial cell morphogenesis. Predicted to be located in cytoplasm; membrane; and nuclear envelope.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

BRICD4; BRICHOS domain containing 4; CHM1-LIKE; CHM1L; chondromodulin I-like; chondromodulin-1-like protein; chondromodulin-I-like protein; chondromodulin-IB; hChM1L; hTeM; myodulin; TEM; tendin

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):	Tnmd (tenomodulin)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Tnmd (tenomodulin)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, Panther, PhylomeDB
Chinchilla lanigera (long-tailed chinchilla):	Tnmd (tenomodulin)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TNMD (tenomodulin)	NCBI	Ortholog
Canis lupus familiaris (dog):	TNMD (tenomodulin)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tnmd (tenomodulin)	NCBI	Ortholog
Sus scrofa (pig):	TNMD (tenomodulin)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	TNMD (tenomodulin)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tnmd (tenomodulin)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Tnmd (tenomodulin)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Mus musculus (house mouse):	Tnmd (tenomodulin)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Danio rerio (zebrafish):	tnmd (tenomodulin)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|SonicParanoid\|ZFIN)
Xenopus laevis (African clawed frog):	tnmd.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	tnmd.S	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	100,584,936 - 100,599,885 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	100,584,936 - 100,599,885 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	99,839,933 - 99,854,882 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	99,726,446 - 99,741,538 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	99,645,974 - 99,661,022	NCBI
Celera	X	100,358,526 - 100,373,618 (+)	NCBI		Celera
Cytogenetic Map	X	q22.1	NCBI
HuRef	X	89,639,690 - 89,654,782 (+)	NCBI		HuRef
CHM1_1	X	99,732,699 - 99,747,791 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	99,027,366 - 99,042,315 (+)	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)

developmental and epileptic encephalopathy 9 (IAGP)

genetic disease (IAGP)

isolated growth hormone deficiency type III (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1-[(4-chlorophenyl)-phenylmethyl]-4-methylpiperazine (ISO)

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

3,4-methylenedioxymethamphetamine (ISO)

4-nitrophenol (ISO)

7,12-dimethyltetraphene (ISO)

aflatoxin B1 (EXP)

ammonium chloride (ISO)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

carbamazepine (EXP)

dibutyl phthalate (ISO)

dorsomorphin (EXP)

entinostat (EXP)

paracetamol (ISO)

resveratrol (EXP)

SB 431542 (EXP)

sodium arsenite (EXP)

sunitinib (EXP)

trichloroethene (ISO)

triclosan (EXP)

undecane (ISO)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cellular response to BMP stimulus (ISO)

endothelial cell morphogenesis (IEA,ISO)

negative regulation of angiogenesis (IBA,IEA,ISO)

negative regulation of endothelial cell proliferation (IBA,IEA,ISO)

tendon cell differentiation (ISO)

Cellular Component

cytoplasm (IEA)

membrane (IEA)

nuclear envelope (IEA)

nucleus (IEA)

Molecular Function

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autism (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:11162640	PMID:11162673	PMID:11357195	PMID:12477932	PMID:12975309	PMID:15150318	PMID:15342556	PMID:15772651	PMID:15950187	PMID:16019413	PMID:17495183	PMID:17627542
PMID:18580688	PMID:18838562	PMID:18982016	PMID:19381347	PMID:19524323	PMID:19602561	PMID:21873635	PMID:22700804	PMID:23593173	PMID:24623722	PMID:25416956	PMID:26880110
PMID:28566251	PMID:30021884	PMID:31515488	PMID:32083813	PMID:32296183	PMID:34996340

Genomics

Comparative Map Data

TNMD
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	100,584,936 - 100,599,885 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	100,584,936 - 100,599,885 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	99,839,933 - 99,854,882 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	99,726,446 - 99,741,538 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	99,645,974 - 99,661,022	NCBI
Celera	X	100,358,526 - 100,373,618 (+)	NCBI		Celera
Cytogenetic Map	X	q22.1	NCBI
HuRef	X	89,639,690 - 89,654,782 (+)	NCBI		HuRef
CHM1_1	X	99,732,699 - 99,747,791 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	99,027,366 - 99,042,315 (+)	NCBI		T2T-CHM13v2.0

Tnmd
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	132,751,757 - 132,766,326 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	132,751,729 - 132,766,326 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	133,851,008 - 133,865,577 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	133,850,980 - 133,865,577 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	130,385,547 - 130,400,116 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	129,197,358 - 129,211,927 (+)	NCBI		MGSCv36	mm8
Celera	X	116,728,599 - 116,743,105 (+)	NCBI		Celera
Cytogenetic Map	X	E3	NCBI
cM Map	X	55.47	NCBI

Tnmd
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	101,350,432 - 101,365,929 (+)	NCBI		GRCr8
mRatBN7.2	X	97,057,137 - 97,072,634 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	97,057,137 - 97,072,634 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	98,731,282 - 98,746,779 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	102,241,064 - 102,256,561 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	99,744,458 - 99,759,955 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	104,684,676 - 104,700,173 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	104,684,676 - 104,700,173 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	104,520,020 - 104,535,506 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	121,396,741 - 121,412,196 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	X	121,470,173 - 121,485,630 (+)	NCBI
Celera	X	98,105,001 - 98,120,498 (+)	NCBI		Celera
Cytogenetic Map	X	q32	NCBI

Tnmd
(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_004955503	6,732,733 - 6,750,717 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955503	6,732,791 - 6,750,693 (+)	NCBI	ChiLan1.0	ChiLan1.0

TNMD
(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	100,192,706 - 100,208,094 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	100,205,018 - 100,211,699 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	89,795,752 - 89,810,791 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	99,935,207 - 99,950,283 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	99,935,207 - 99,950,283 (+)	Ensembl	panpan1.1		panPan2

TNMD
(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	74,459,111 - 74,475,010 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	74,459,313 - 74,478,170 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
ROS_Cfam_1.0	X	75,868,805 - 75,884,657 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	75,868,965 - 75,884,664 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	73,431,133 - 73,446,983 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	75,101,495 - 75,117,351 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	74,862,398 - 74,878,257 (+)	NCBI		UU_Cfam_GSD_1.0

Tnmd
(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	63,734,330 - 63,749,631 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936584	5,803,309 - 5,818,647 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936584	5,803,309 - 5,818,643 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TNMD
(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	82,269,239 - 82,292,246 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	82,269,323 - 82,292,083 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	90,109,157 - 90,132,534 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TNMD
(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	88,895,412 - 88,911,679 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	88,896,106 - 88,911,699 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666065	13,825,083 - 13,840,866 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tnmd
(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_004624902	2,019,185 - 2,038,311 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624902	2,019,649 - 2,038,203 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in TNMD
12 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 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 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 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 Xp11.23-q22.1(chrX:49100536-102174742)x1	copy number loss	See cases [RCV000137414]	ChrX:49100536..102174742 [GRCh38] ChrX:48957474..101429714 [GRCh37] ChrX:48844418..101316370 [NCBI36] ChrX:Xp11.23-q22.1	pathogenic\|likely benign
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 Xq22.1(chrX:100286152-100924659)x2	copy number gain	See cases [RCV000138284]	ChrX:100286152..100924659 [GRCh38] ChrX:99541150..100179648 [GRCh37] ChrX:99427806..100066304 [NCBI36] ChrX:Xq22.1	uncertain significance
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 Xq21.31-22.1(chrX:91225162-101026774)x1	copy number loss	See cases [RCV000139915]	ChrX:91225162..101026774 [GRCh38] ChrX:90480161..100281763 [GRCh37] ChrX:90366817..100168419 [NCBI36] ChrX:Xq21.31-22.1	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 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 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 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)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 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:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] 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 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-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
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:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [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:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NC_000023.10:g.(?_99551255)_(99926004_?)del	deletion	Developmental and epileptic encephalopathy, 9 [RCV000545068]	ChrX:99551255..99926004 [GRCh37] ChrX:Xq22.1	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:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..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 Xp22.33-q28(chrX:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [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:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [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
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-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 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: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 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 Xp22.33-q28(chrX:168546-155081533)x3	copy number gain	See cases [RCV000447253]	ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28	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:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [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 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 Xq13.3-28(chrX:74787886-155233731)x1	copy number loss	See cases [RCV000447490]	ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28	pathogenic
GRCh37/hg19 Xq21.32-22.1(chrX:92879337-100099708)x1	copy number loss	See cases [RCV000446413]	ChrX:92879337..100099708 [GRCh37] ChrX:Xq21.32-22.1	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:168546-155233731)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:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	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: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 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 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-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 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	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 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 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 Xq21.33-22.1(chrX:97026936-99973825)x3	copy number gain	See cases [RCV000511720]	ChrX:97026936..99973825 [GRCh37] ChrX:Xq21.33-22.1	likely benign
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:57511767-155233731)x3	copy number gain	See cases [RCV000510826]	ChrX:57511767..155233731 [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 Xq22.1(chrX:99742359-100759773)x3	copy number gain	not provided [RCV000585467]	ChrX:99742359..100759773 [GRCh37] ChrX:Xq22.1	likely 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 Xq21.33-28(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 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
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(chrX:99764215-100150502)x3	copy number gain	not provided [RCV000753686]	ChrX:99764215..100150502 [GRCh37] ChrX:Xq22.1	uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1	copy number loss	not provided [RCV000753556]	ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28	pathogenic
Single allele	duplication	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] 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
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:60262-155245765)x3	copy number gain	not provided [RCV000753272]	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:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NC_000023.10:g.(?_99551255)_(99926004_?)dup	duplication	Developmental and epileptic encephalopathy, 9 [RCV001031703]	ChrX:99551255..99926004 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_022144.3(TNMD):c.753T>C (p.Asn251=)	single nucleotide variant	not provided [RCV000880536]	ChrX:100599516 [GRCh38] ChrX:99854513 [GRCh37] ChrX:Xq22.1	likely benign
NM_022144.3(TNMD):c.714A>C (p.Ala238=)	single nucleotide variant	not provided [RCV000904263]	ChrX:100599152 [GRCh38] ChrX:99854149 [GRCh37] ChrX:Xq22.1	benign
GRCh37/hg19 Xq22.1(chrX:98987165-100421459)x2	copy number gain	not provided [RCV000848726]	ChrX:98987165..100421459 [GRCh37] ChrX:Xq22.1	uncertain significance
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:78444738-155233731)x1	copy number loss	not provided [RCV001007318]	ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28	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 Xq21.32-28(chrX:92814516-155233731)x1	copy number loss	not provided [RCV000845672]	ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28	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
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 Xq22.1(chrX:99430457-100047314)x1	copy number loss	not provided [RCV000845838]	ChrX:99430457..100047314 [GRCh37] ChrX:Xq22.1	pathogenic
NM_022144.3(TNMD):c.859T>C (p.Tyr287His)	single nucleotide variant	Inborn genetic diseases [RCV003239792]	ChrX:100599622 [GRCh38] ChrX:99854619 [GRCh37] ChrX:Xq22.1	uncertain significance
NC_000023.10:g.(?_99551275)_(100099087_?)del	deletion	Developmental and epileptic encephalopathy, 9 [RCV003105638]	ChrX:99551275..100099087 [GRCh37] ChrX:Xq22.1	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
NM_022144.3(TNMD):c.24T>C (p.Asn8=)	single nucleotide variant	not provided [RCV000961820]	ChrX:100585042 [GRCh38] ChrX:99840039 [GRCh37] ChrX:Xq22.1	benign
NM_022144.3(TNMD):c.112A>G (p.Ile38Val)	single nucleotide variant	Inborn genetic diseases [RCV002548255]\|not provided [RCV000953622]	ChrX:100585294 [GRCh38] ChrX:99840291 [GRCh37] ChrX:Xq22.1	likely benign\|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
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	copy number loss	not provided [RCV001537933]	ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NC_000023.10:g.(?_99551255)_(99905882_?)del	deletion	Developmental and epileptic encephalopathy, 9 [RCV001033048]	ChrX:99551255..99905882 [GRCh37] ChrX:Xq22.1	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 Xq22.1(chrX:99581496-100047228)x2	copy number gain	not provided [RCV001259487]	ChrX:99581496..100047228 [GRCh37] ChrX:Xq22.1	uncertain significance
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 Xq21.33-28(chrX:94264404-155233731)x1	copy number loss	not provided [RCV001259012]	ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28	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 Xp11.21-q28(chrX:55507789-155198481)x3	copy number gain	See cases [RCV001263024]	ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-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 Xp11.21-q28(chrX:56469080-155233731)x3	copy number gain	not provided [RCV001281359]	ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
NC_000023.10:g.(?_99551275)_(101097764_?)dup	duplication	Developmental and epileptic encephalopathy, 9 [RCV003109223]\|X-linked agammaglobulinemia with growth hormone deficiency [RCV003119228]	ChrX:99551275..101097764 [GRCh37] ChrX:Xq22.1	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 Xq22.1(chrX:99842716-100570618)	copy number gain	not specified [RCV002053163]	ChrX:99842716..100570618 [GRCh37] ChrX:Xq22.1	uncertain significance
GRCh37/hg19 Xq21.32-22.1(chrX:92879337-100099708)	copy number loss	not specified [RCV002053160]	ChrX:92879337..100099708 [GRCh37] ChrX:Xq21.32-22.1	pathogenic
GRCh37/hg19 Xq22.1(chrX:99589130-102138180)x3	copy number gain	not provided [RCV001834163]	ChrX:99589130..102138180 [GRCh37] ChrX:Xq22.1	uncertain significance
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 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV001834509]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NC_000023.10:g.(?_99551275)_(100663464_?)del	deletion	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked [RCV001970672]	ChrX:99551275..100663464 [GRCh37] ChrX:Xq22.1	uncertain significance
NC_000023.10:g.(?_99551275)_(101097764_?)del	deletion	not provided [RCV003113386]	ChrX:99551275..101097764 [GRCh37] ChrX:Xq22.1	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 Xq11.1-28(chrX:62685885-155233731)	copy number loss	Turner syndrome [RCV002280672]	ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28	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
NM_022144.3(TNMD):c.185A>G (p.Tyr62Cys)	single nucleotide variant	Inborn genetic diseases [RCV002731876]	ChrX:100593899 [GRCh38] ChrX:99848896 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_022144.3(TNMD):c.124A>G (p.Thr42Ala)	single nucleotide variant	Inborn genetic diseases [RCV002974406]	ChrX:100585306 [GRCh38] ChrX:99840303 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_022144.3(TNMD):c.902G>A (p.Arg301His)	single nucleotide variant	Inborn genetic diseases [RCV002684269]	ChrX:100599665 [GRCh38] ChrX:99854662 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_022144.3(TNMD):c.589C>G (p.Gln197Glu)	single nucleotide variant	Inborn genetic diseases [RCV003195261]	ChrX:100599027 [GRCh38] ChrX:99854024 [GRCh37] ChrX:Xq22.1	uncertain significance
NM_022144.3(TNMD):c.648T>G (p.Ile216Met)	single nucleotide variant	Inborn genetic diseases [RCV003366869]	ChrX:100599086 [GRCh38] ChrX:99854083 [GRCh37] ChrX:Xq22.1	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_022144.3(TNMD):c.345G>C (p.Val115=)	single nucleotide variant	not provided [RCV003430624]	ChrX:100594284 [GRCh38] ChrX:99849281 [GRCh37] ChrX:Xq22.1	likely benign
NM_022144.3(TNMD):c.298T>C (p.Leu100=)	single nucleotide variant	not provided [RCV003430623]	ChrX:100594012 [GRCh38] ChrX:99849009 [GRCh37] ChrX:Xq22.1	likely benign
GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	copy number gain	not specified [RCV003986197]	ChrX:68040342..100863081 [GRCh37] ChrX:Xq13.1-22.1	pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	copy number gain	not provided [RCV003885530]	ChrX:67292994..155240074 [GRCh37] ChrX:Xq12-28	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

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	314
Count of miRNA genes:	277
Interacting mature miRNAs:	291
Transcripts:	ENST00000373031, ENST00000485971
Prediction methods:	Miranda, Pita, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

Markers in Region

DXS7679

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	99,842,840 - 99,843,005	UniSTS	GRCh37
Build 36	X	99,729,496 - 99,729,661	RGD	NCBI36
Celera	X	100,361,576 - 100,361,741	RGD
Cytogenetic Map	X	q21.33-q23	UniSTS
HuRef	X	89,642,740 - 89,642,905	UniSTS

DXS7735

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	99,845,591 - 99,845,730	UniSTS	GRCh37
Build 36	X	99,732,247 - 99,732,386	RGD	NCBI36
Celera	X	100,364,327 - 100,364,466	RGD
Cytogenetic Map	X	q21.33-q23	UniSTS
HuRef	X	89,645,491 - 89,645,630	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

854

861

211

Low

724

625

207

122

2445

489

650

170

466

197

341

1757

Below cutoff

1476

1498

925

249

510

154

891

1467

2208

158

772

850

755

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_013266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_022144	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB055421	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF191770	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF234259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF291656	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL035608	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY358706	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC034030	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP319044	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471115	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF459255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000373031 ⟹ ENSP00000362122

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	100,584,936 - 100,599,885 (+)	Ensembl

RefSeq Acc Id:

ENST00000485971

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	100,593,624 - 100,597,531 (+)	Ensembl

RefSeq Acc Id:

NM_022144 ⟹ NP_071427

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	100,584,936 - 100,599,885 (+)	NCBI
GRCh37	X	99,839,790 - 99,855,007 (+)	NCBI
Build 36	X	99,726,446 - 99,741,538 (+)	NCBI Archive
HuRef	X	89,639,690 - 89,654,782 (+)	ENTREZGENE
CHM1_1	X	99,732,699 - 99,747,791 (+)	NCBI
T2T-CHM13v2.0	X	99,027,366 - 99,042,315 (+)	NCBI

Sequence:

show sequence

AGCCGACTCACTTGCAACTCCACCTCAGCAGTGGTCTCTCAGTCCTCTCAAAGCAAGGAAAGAG
TACTGTGTGCTGAGAGACCATGGCAAAGAATCCTCCAGAGAATTGTGAAGACTGTCACATTCTA
AATGCAGAAGCTTTTAAATCCAAGAAAATATGTAAATCACTTAAGATTTGTGGACTGGTGTTTG
GTATCCTGGCCCTAACTCTAATTGTCCTGTTTTGGGGGAGCAAGCACTTCTGGCCGGAGGTACC
CAAAAAAGCCTATGACATGGAGCACACTTTCTACAGCAATGGAGAGAAGAAGAAGATTTACATG
GAAATTGATCCTGTGACCAGAACTGAAATATTCAGAAGCGGAAATGGCACTGATGAAACATTGG
AAGTGCACGACTTTAAAAACGGATACACTGGCATCTACTTCGTGGGTCTTCAAAAATGTTTTAT
CAAAACTCAGATTAAAGTGATTCCTGAATTTTCTGAACCAGAAGAGGAAATAGATGAGAATGAA
GAAATTACCACAACTTTCTTTGAACAGTCAGTGATTTGGGTCCCAGCAGAAAAGCCTATTGAAA
ACCGAGATTTTCTTAAAAATTCCAAAATTCTGGAGATTTGTGATAACGTGACCATGTATTGGAT
CAATCCCACTCTAATATCAGTTTCTGAGTTACAAGACTTTGAGGAGGAGGGAGAAGATCTTCAC
TTTCCTGCCAACGAAAAAAAAGGGATTGAACAAAATGAACAGTGGGTGGTCCCTCAAGTGAAAG
TAGAGAAGACCCGTCACGCCAGACAAGCAAGTGAGGAAGAACTTCCAATAAATGACTATACTGA
AAATGGAATAGAATTTGATCCCATGCTGGATGAGAGAGGTTATTGTTGTATTTACTGCCGTCGA
GGCAACCGCTATTGCCGCCGCGTCTGTGAACCTTTACTAGGCTACTACCCATATCCATACTGCT
ACCAAGGAGGACGAGTCATCTGTCGTGTCATCATGCCTTGTAACTGGTGGGTGGCCCGCATGCT
GGGGAGGGTCTAATAGGAGGTTTGAGCTCAAATGCTTAAACTGCTGGCAACATATAATAAATGC
ATGCTATTCAATGAATTTCTGCCTATGAGGCATCTGGCCCCTGGTAGCCAGCTCTCCAGAATTA
CTTGTAGGTAATTCCTCTCTTCATGTTCTAATAAACTTCTACATTATCACCAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_071427	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAG28395	(Get FASTA)	NCBI Sequence Viewer
	AAG49144	(Get FASTA)	NCBI Sequence Viewer
	AAK83109	(Get FASTA)	NCBI Sequence Viewer
	AAQ89069	(Get FASTA)	NCBI Sequence Viewer
	BAB21756	(Get FASTA)	NCBI Sequence Viewer
	EAX02806	(Get FASTA)	NCBI Sequence Viewer
	EAX02807	(Get FASTA)	NCBI Sequence Viewer
	EAX02808	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000362122
	ENSP00000362122.4
GenBank Protein	Q9H2S6	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_071427 ⟸ NM_022144

- UniProtKB:

Q9HBX0 (UniProtKB/Swiss-Prot), Q9UJG0 (UniProtKB/Swiss-Prot), Q9H2S6 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MAKNPPENCEDCHILNAEAFKSKKICKSLKICGLVFGILALTLIVLFWGSKHFWPEVPKKAYDM
EHTFYSNGEKKKIYMEIDPVTRTEIFRSGNGTDETLEVHDFKNGYTGIYFVGLQKCFIKTQIKV
IPEFSEPEEEIDENEEITTTFFEQSVIWVPAEKPIENRDFLKNSKILEICDNVTMYWINPTLIS
VSELQDFEEEGEDLHFPANEKKGIEQNEQWVVPQVKVEKTRHARQASEEELPINDYTENGIEFD
PMLDERGYCCIYCRRGNRYCRRVCEPLLGYYPYPYCYQGGRVICRVIMPCNWWVARMLGRV

hide sequence

RefSeq Acc Id:

ENSP00000362122 ⟸ ENST00000373031

Protein Domains

BRICHOS

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9H2S6-F1-model_v2	AlphaFold	Q9H2S6	1-317	view protein structure

Promoters

RGD ID:

13627584

Promoter ID:

EPDNEW_H29067

Type:

initiation region

Name:

TNMD_1

Description:

tenomodulin

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	100,584,936 - 100,584,996	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:17757	AgrOrtholog
COSMIC	TNMD	COSMIC
Ensembl Genes	ENSG00000000005	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000373031	ENTREZGENE
	ENST00000373031.5	UniProtKB/Swiss-Prot
GTEx	ENSG00000000005	GTEx
HGNC ID	HGNC:17757	ENTREZGENE
Human Proteome Map	TNMD	Human Proteome Map
InterPro	BRICHOS_dom	UniProtKB/Swiss-Prot
	Chondromodulin/Tenomodulin	UniProtKB/Swiss-Prot
KEGG Report	hsa:64102	UniProtKB/Swiss-Prot
NCBI Gene	64102	ENTREZGENE
OMIM	300459	OMIM
PANTHER	PTHR14064	UniProtKB/Swiss-Prot
	TENOMODULIN	UniProtKB/Swiss-Prot
Pfam	BRICHOS	UniProtKB/Swiss-Prot
PharmGKB	PA134878561	PharmGKB
PROSITE	BRICHOS	UniProtKB/Swiss-Prot
SMART	BRICHOS	UniProtKB/Swiss-Prot
UniProt	Q9H2S6	ENTREZGENE
	Q9HBX0	ENTREZGENE
	Q9UJG0	ENTREZGENE
	TNMD_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	Q9HBX0	UniProtKB/Swiss-Prot
	Q9UJG0	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)

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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