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Gene: NHS (NHS actin remodeling regulator) Homo sapiens

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Symbol:

NHS

Name:

NHS actin remodeling regulator

RGD ID:

1352036

HGNC Page

HGNC:7820

Description:

Predicted to be involved in cell differentiation and lens development in camera-type eye. Located in Golgi apparatus; cell junction; and nuclear body. Implicated in Nance-Horan syndrome and cataract 40.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

actin remodeling regulator NHS; cataract, congenital, total; CCT; congenital cataracts and dental anomalies protein; CTRCT40; CXN; DKFZp781F2016; DKFZp781L0254; FLJ22511; Nance-Horan syndrome (congenital cataracts and dental anomalies); Nance-Horan syndrome protein; SCML1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	17,375,200 - 17,735,994 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	17,375,200 - 17,735,994 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	17,393,323 - 17,754,114 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	17,303,464 - 17,664,035 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	17,153,199 - 17,513,768	NCBI
Celera	X	21,515,624 - 21,873,432 (+)	NCBI		Celera
Cytogenetic Map	X	p22.2-p22.13	NCBI
HuRef	X	15,153,213 - 15,512,673 (+)	NCBI		HuRef
CHM1_1	X	17,424,184 - 17,784,494 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	16,957,799 - 17,318,610 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NHS	Human	Nance-Horan syndrome		IAGP		1598795	DNA:snp more ...	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NHS	Human	autistic disorder		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
NHS	Human	cataract		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital cataract	ClinVar	PMID:26694549
NHS	Human	cataract 40		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 40	ClinVar	PMID:19414485
NHS	Human	cataract 40		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Cataract 40	ClinVar	PMID:25741868
NHS	Human	cataract 40		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 40 and X-linked	ClinVar	PMID:25741868 and PMID:28492532
NHS	Human	cataract 40		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 40	ClinVar	PMID:14564667 more ...
NHS	Human	cataract 40		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cataract 40	ClinVar	PMID:23757202 more ...
NHS	Human	Coffin-Lowry syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Coffin-Lowry syndrome	ClinVar	PMID:10679936 more ...
NHS	Human	Coffin-Lowry syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Coffin-Lowry syndrome	ClinVar	PMID:17304053 more ...
NHS	Human	developmental and epileptic encephalopathy 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 2	ClinVar	PMID:18076117 more ...
NHS	Human	developmental and epileptic encephalopathy 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 2	ClinVar	PMID:28492532
NHS	Human	developmental and epileptic encephalopathy 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 2	ClinVar	PMID:22872100 and PMID:28492532
NHS	Human	developmental and epileptic encephalopathy 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 2	ClinVar	PMID:17304053 more ...
NHS	Human	developmental and epileptic encephalopathy 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 2	ClinVar	PMID:19780792 more ...
NHS	Human	developmental and epileptic encephalopathy 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Developmental and epileptic encephalopathy and 2	ClinVar	PMID:10679936 more ...
NHS	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:14564667 more ...
NHS	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:28492532
NHS	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
NHS	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
NHS	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868
NHS	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:23757202 and PMID:28492532
NHS	Human	glycogen storage disease IXA		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Glycogen storage disease IXa1	ClinVar	PMID:17304053 more ...
NHS	Human	intellectual disability		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868
NHS	Human	intellectual disability		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868 and PMID:28492532
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:28492532
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:28492532
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:17576681 more ...
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:14564667 more ...
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:25741868 and PMID:28492532
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:28492532
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:14564667 more ...
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:18414213 and PMID:28492532
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:23757202 more ...
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:14564667 more ...
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:26633542 and PMID:28492532
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:14564667 more ...
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:28492532 and PMID:30642278
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:28492532 and PMID:29611406
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:17304053 more ...
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:14564667 more ...
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:10679936 more ...
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:15466011 more ...
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:2246772
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:14564667 more ...
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:14564667 and PMID:25741868
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:17256798 more ...
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:15623749
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:25266737
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:23757202 and PMID:28492532
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:16736028 and PMID:458526
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:27159028
NHS	Human	Nance-Horan syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Nance-Horan syndrome	ClinVar	PMID:27148795
NHS	Human	Neurodevelopmental Disorders		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder	ClinVar	PMID:25741868
NHS	Human	prostate cancer		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Malignant tumor of prostate	ClinVar	PMID:28492532
NHS	Human	Pyruvate Dehydrogenase E1 Alpha Deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency	ClinVar	PMID:10679936 more ...
NHS	Human	syndromic X-linked intellectual disability Lubs type		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	ClinVar	PMID:25741868

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NHS	Human	cataract 40		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD
NHS	Human	Nance-Horan syndrome		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NHS	Human	Nance-Horan syndrome		ISS	Nhs (Mus musculus)	13592920	OMIM:302350	MouseDO

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NHS	Human	cataract 40		IAGP		7240710		OMIM
NHS	Human	Nance-Horan syndrome		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NHS	Human	17beta-estradiol	decreases expression	EXP		6480464	Estradiol results in decreased expression of NHS mRNA	CTD	PMID:24758408
NHS	Human	17beta-estradiol	increases expression	EXP		6480464	Estradiol results in increased expression of NHS mRNA	CTD	PMID:31614463
NHS	Human	17beta-estradiol	multiple interactions	EXP		6480464	EGF protein inhibits the reaction [Estradiol results in decreased expression of NHS mRNA]	CTD	PMID:24758408
NHS	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	EXP		6480464	Tetrachlorodibenzodioxin affects the expression of NHS mRNA	CTD	PMID:22574217
NHS	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of NHS gene	CTD	PMID:27153756
NHS	Human	all-trans-retinoic acid	decreases expression	EXP		6480464	Tretinoin results in decreased expression of NHS mRNA	CTD	PMID:23724009
NHS	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of NHS mRNA	CTD	PMID:33212167
NHS	Human	benzene-1,2,4-triol	decreases expression	EXP		6480464	hydroxyhydroquinone results in decreased expression of NHS mRNA	CTD	PMID:39245080
NHS	Human	benzo[a]pyrene	increases mutagenesis	EXP		6480464	Benzo(a)pyrene results in increased mutagenesis of NHS gene	CTD	PMID:25435355
NHS	Human	benzo[a]pyrene	increases methylation	ISO	Nhs (Mus musculus)	6480464	Benzo(a)pyrene results in increased methylation of NHS intron	CTD	PMID:27901495
NHS	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of NHS exon	CTD	PMID:27901495
NHS	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of NHS promoter	CTD	PMID:27901495
NHS	Human	benzo[e]pyrene	increases methylation	EXP		6480464	benzo(e)pyrene results in increased methylation of NHS intron	CTD	PMID:30157460
NHS	Human	bisphenol A	decreases expression	ISO	Nhs (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of NHS mRNA	CTD	PMID:25181051
NHS	Human	bisphenol A	decreases expression	EXP		6480464	bisphenol A results in decreased expression of NHS mRNA	CTD	PMID:36232920
NHS	Human	bisphenol A	decreases methylation	EXP		6480464	bisphenol A results in decreased methylation of NHS gene	CTD	PMID:31601247
NHS	Human	bisphenol A	decreases methylation	ISO	Nhs (Mus musculus)	6480464	bisphenol A results in decreased methylation of NHS promoter	CTD	PMID:27312807
NHS	Human	butanal	increases expression	EXP		6480464	butyraldehyde results in increased expression of NHS mRNA	CTD	PMID:26079696
NHS	Human	calcitriol	increases expression	EXP		6480464	Calcitriol results in increased expression of NHS mRNA	CTD	PMID:16002434
NHS	Human	chlorpyrifos	decreases expression	ISO	Nhs (Mus musculus)	6480464	Chlorpyrifos results in decreased expression of NHS mRNA	CTD	PMID:32715474
NHS	Human	choline	multiple interactions	ISO	Nhs (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of NHS gene	CTD	PMID:20938992
NHS	Human	cisplatin	decreases expression	EXP		6480464	Cisplatin results in decreased expression of NHS mRNA	CTD	PMID:19561079 and PMID:27392435
NHS	Human	cisplatin	multiple interactions	EXP		6480464	[Cisplatin co-treated with jinfukang] results in decreased expression of NHS mRNA	CTD	PMID:27392435
NHS	Human	crocidolite asbestos	increases expression	EXP		6480464	Asbestos and Crocidolite results in increased expression of NHS mRNA	CTD	PMID:18687144
NHS	Human	crocidolite asbestos	decreases expression	EXP		6480464	Asbestos and Crocidolite results in decreased expression of NHS mRNA	CTD	PMID:29523930
NHS	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of NHS mRNA	CTD	PMID:37042841
NHS	Human	dioxygen	increases expression	EXP		6480464	Oxygen deficiency results in increased expression of NHS mRNA	CTD	PMID:26516004
NHS	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1 more ...	CTD	PMID:27188386
NHS	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of NHS mRNA	CTD	PMID:29803840
NHS	Human	ethyl methanesulfonate	increases expression	EXP		6480464	Ethyl Methanesulfonate results in increased expression of NHS mRNA	CTD	PMID:23649840
NHS	Human	fluoranthene	multiple interactions	ISO	Nhs (Mus musculus)	6480464	[1-methylanthracene co-treated with fluoranthene] results in increased expression of NHS mRNA	CTD	PMID:28329830
NHS	Human	folic acid	multiple interactions	ISO	Nhs (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of NHS gene	CTD	PMID:20938992
NHS	Human	fonofos	increases methylation	EXP		6480464	Fonofos results in increased methylation of NHS promoter	CTD	PMID:22847954
NHS	Human	formaldehyde	decreases expression	EXP		6480464	Formaldehyde results in decreased expression of NHS mRNA	CTD	PMID:20655997
NHS	Human	formaldehyde	increases expression	EXP		6480464	Formaldehyde results in increased expression of NHS mRNA	CTD	PMID:23649840
NHS	Human	gentamycin	increases expression	ISO	Nhs (Rattus norvegicus)	6480464	Gentamicins results in increased expression of NHS mRNA	CTD	PMID:33387578
NHS	Human	glyphosate	increases expression	ISO	Nhs (Mus musculus)	6480464	Glyphosate results in increased expression of NHS mRNA	CTD	PMID:35897073
NHS	Human	graphene oxide	increases expression	EXP		6480464	graphene oxide results in increased expression of NHS protein	CTD	PMID:33219560 and PMID:33219577
NHS	Human	hydralazine	multiple interactions	EXP		6480464	[Hydralazine co-treated with Valproic Acid] results in increased expression of NHS mRNA	CTD	PMID:17183730
NHS	Human	L-methionine	multiple interactions	ISO	Nhs (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of NHS gene	CTD	PMID:20938992
NHS	Human	lipopolysaccharide	multiple interactions	EXP		6480464	[S-(1 and 2-dichlorovinyl)cysteine affects the susceptibility to Lipopolysaccharides] which results in increased expression of NHS mRNA	CTD	PMID:35811015
NHS	Human	melphalan	decreases expression	EXP		6480464	Melphalan results in decreased expression of NHS mRNA	CTD	PMID:22363485
NHS	Human	mercury dibromide	decreases expression	EXP		6480464	mercuric bromide results in decreased expression of NHS mRNA	CTD	PMID:26272509
NHS	Human	mercury dibromide	multiple interactions	EXP		6480464	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NHS mRNA	CTD	PMID:27188386
NHS	Human	methapyrilene	increases methylation	EXP		6480464	Methapyrilene results in increased methylation of NHS intron	CTD	PMID:30157460
NHS	Human	methylmercury chloride	decreases expression	EXP		6480464	methylmercuric chloride results in decreased expression of NHS mRNA	CTD	PMID:28001369
NHS	Human	p-chloromercuribenzoic acid	decreases expression	EXP		6480464	p-Chloromercuribenzoic Acid results in decreased expression of NHS mRNA	CTD	PMID:26272509
NHS	Human	p-chloromercuribenzoic acid	multiple interactions	EXP		6480464	[NOG protein co-treated with p-Chloromercuribenzoic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NHS mRNA	CTD	PMID:27188386
NHS	Human	paracetamol	increases expression	EXP		6480464	Acetaminophen results in increased expression of NHS mRNA	CTD	PMID:29067470
NHS	Human	paracetamol	decreases expression	ISO	Nhs (Rattus norvegicus)	6480464	Acetaminophen results in decreased expression of NHS mRNA	CTD	PMID:30723492
NHS	Human	parathion	increases methylation	EXP		6480464	Parathion results in increased methylation of NHS promoter	CTD	PMID:22847954
NHS	Human	pentanal	increases expression	EXP		6480464	pentanal results in increased expression of NHS mRNA	CTD	PMID:26079696
NHS	Human	S-(1,2-dichlorovinyl)-L-cysteine	decreases expression	EXP		6480464	S-(1 and 2-dichlorovinyl)cysteine results in decreased expression of NHS mRNA	CTD	PMID:35811015
NHS	Human	S-(1,2-dichlorovinyl)-L-cysteine	multiple interactions	EXP		6480464	[S-(1 and 2-dichlorovinyl)cysteine affects the susceptibility to Lipopolysaccharides] which results in increased expression of NHS mRNA	CTD	PMID:35811015
NHS	Human	SB 431542	multiple interactions	EXP		6480464	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1 more ...	CTD	PMID:27188386
NHS	Human	terbufos	increases methylation	EXP		6480464	terbufos results in increased methylation of NHS promoter	CTD	PMID:22847954
NHS	Human	titanium dioxide	increases methylation	ISO	Nhs (Mus musculus)	6480464	titanium dioxide results in increased methylation of NHS gene and titanium dioxide results in increased methylation of NHS promoter	CTD	PMID:35295148
NHS	Human	titanium dioxide	decreases methylation	ISO	Nhs (Mus musculus)	6480464	titanium dioxide results in decreased methylation of NHS gene	CTD	PMID:35295148
NHS	Human	trichostatin A	increases expression	EXP		6480464	trichostatin A results in increased expression of NHS mRNA	CTD	PMID:24935251
NHS	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of NHS mRNA	CTD	PMID:37042841
NHS	Human	valproic acid	multiple interactions	EXP		6480464	[Hydralazine co-treated with Valproic Acid] results in increased expression of NHS mRNA	CTD	PMID:17183730
NHS	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of NHS mRNA	CTD	PMID:24935251
NHS	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of NHS mRNA	CTD	PMID:25979313
NHS	Human	zoledronic acid	decreases expression	EXP		6480464	zoledronic acid results in decreased expression of NHS mRNA	CTD	PMID:24714768

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NHS	Human	cell differentiation	involved_in	IBA	MGI:2684894 more ...	150520179		GO_Central	GO_REF:0000033
NHS	Human	cell differentiation	acts_upstream_of_or_within	IEA	UniProtKB:B1AV60 and ensembl:ENSMUSP00000084319	150520179		Ensembl	GO_REF:0000107
NHS	Human	lens development in camera-type eye	involved_in	IBA	MGI:2684894 and PANTHER:PTN002745792	150520179		GO_Central	GO_REF:0000033
NHS	Human	lens development in camera-type eye	acts_upstream_of_or_within	IEA	UniProtKB:B1AV60 and ensembl:ENSMUSP00000084319	150520179		Ensembl	GO_REF:0000107

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NHS	Human	anchoring junction	located_in	IEA	UniProtKB-KW:KW-0965	150520179		UniProt	GO_REF:0000043
NHS	Human	apical plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0015	150520179		UniProt	GO_REF:0000044
NHS	Human	bicellular tight junction	located_in	IEA	UniProtKB-SubCell:SL-0265	150520179		UniProt	GO_REF:0000044
NHS	Human	bicellular tight junction	located_in	IEA	UniProtKB-KW:KW-0796	150520179		UniProt	GO_REF:0000043
NHS	Human	cell junction	located_in	IDA		150520179		HPA	GO_REF:0000052
NHS	Human	cell projection	located_in	IEA	UniProtKB-KW:KW-0966	150520179		UniProt	GO_REF:0000043
NHS	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
NHS	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
NHS	Human	focal adhesion	located_in	IEA	UniProtKB-SubCell:SL-0118	150520179		UniProt	GO_REF:0000044
NHS	Human	Golgi apparatus	located_in	IDA		150520179		HPA	GO_REF:0000052
NHS	Human	lamellipodium	located_in	IEA	UniProtKB-SubCell:SL-0291	150520179		UniProt	GO_REF:0000044
NHS	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
NHS	Human	nuclear body	located_in	IDA		150520179		HPA	GO_REF:0000052
NHS	Human	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NHS	Human	Abnormality of the dentition		IAGP		8699517		HPO	ORPHA:627
NHS	Human	Anteverted ears		IAGP		8699517		HPO	MIM:302350 and PMID:30642278
NHS	Human	Atypical behavior		IAGP		8699517		HPO	ORPHA:627
NHS	Human	Autism		IAGP		8699517		HPO	MIM:302350
NHS	Human	Broad finger		IAGP		8699517		HPO	MIM:302350
NHS	Human	Cataract		IAGP		8699517		HPO	ORPHA:627
NHS	Human	Congenital onset		IAGP		8699517		HPO	MIM:302350 and PMID:30642278
NHS	Human	Dental malocclusion		IAGP		8699517		HPO	MIM:302350 and PMID:30642278
NHS	Human	Developmental cataract		IAGP		8699517		HPO	MIM:302350
NHS	Human	Diastema		IAGP		8699517		HPO	MIM:302350
NHS	Human	Glaucoma		IAGP		8699517		HPO	MIM:302350
NHS	Human	Glaucoma		IAGP		8699517		HPO	ORPHA:627
NHS	Human	Intellectual disability		IAGP		8699517		HPO	ORPHA:627
NHS	Human	Intellectual disability, moderate		IAGP		8699517		HPO	MIM:302350 and PMID:30642278
NHS	Human	Long face		IAGP		8699517		HPO	MIM:302350
NHS	Human	Long face		IAGP		8699517		HPO	ORPHA:627
NHS	Human	Macrotia		IAGP		8699517		HPO	MIM:302350
NHS	Human	Mandibular prognathia		IAGP		8699517		HPO	ORPHA:627
NHS	Human	Microcornea		IAGP		8699517		HPO	MIM:302350
NHS	Human	Microcornea		IAGP		8699517		HPO	ORPHA:627
NHS	Human	Microphthalmia		IAGP		8699517		HPO	MIM:302350
NHS	Human	Microphthalmia		IAGP		8699517		HPO	ORPHA:627
NHS	Human	Mulberry molar		IAGP		8699517		HPO	MIM:302350 more ...
NHS	Human	Narrow face		IAGP		8699517		HPO	MIM:302350 and PMID:30642278
NHS	Human	Nuclear cataract		IAGP		8699517		HPO	MIM:302200
NHS	Human	Nuclear cataract		IAGP		8699517		HPO	MIM:302350 and PMID:30642278
NHS	Human	Nystagmus		IAGP		8699517		HPO	ORPHA:627
NHS	Human	Nystagmus		IAGP		8699517		HPO	MIM:302350 and PMID:30642278
NHS	Human	Posterior Y-sutural cataract		IAGP		8699517		HPO	MIM:302350
NHS	Human	Prominent nasal bridge		IAGP		8699517		HPO	MIM:302350
NHS	Human	Prominent nasal bridge		IAGP		8699517		HPO	ORPHA:627
NHS	Human	Prominent nose		IAGP		8699517		HPO	ORPHA:627
NHS	Human	Prominent nose		IAGP		8699517		HPO	MIM:302350 and PMID:30642278
NHS	Human	Protruding ear		IAGP		8699517		HPO	ORPHA:627
NHS	Human	Retinal detachment		IAGP		8699517		HPO	ORPHA:627
NHS	Human	Screwdriver-shaped incisors		IAGP		8699517		HPO	MIM:302350 more ...
NHS	Human	Severely reduced visual acuity		IAGP		8699517		HPO	MIM:302200
NHS	Human	Short metacarpal		IAGP		8699517		HPO	ORPHA:627
NHS	Human	Short phalanx of finger		IAGP		8699517		HPO	MIM:302350
NHS	Human	Strabismus		IAGP		8699517		HPO	ORPHA:627
NHS	Human	Supernumerary maxillary incisor		IAGP		8699517		HPO	MIM:302350
NHS	Human	Supernumerary tooth		IAGP		8699517		HPO	ORPHA:627
NHS	Human	Sutural cataract		IAGP		8699517		HPO	MIM:302200
NHS	Human	Visual impairment		IAGP		8699517		HPO	ORPHA:627
NHS	Human	Visual loss		IAGP		8699517		HPO	MIM:302350
NHS	Human	Visual loss		IAGP		8699517		HPO	ORPHA:627
NHS	Human	X-linked dominant inheritance		IAGP		8699517		HPO	MIM:302350
NHS	Human	X-linked inheritance		IAGP		8699517		HPO	MIM:302200 and PMID:19414485

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NHS	Human	Autism		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
NHS	Human	Autism		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
NHS	Human	Developmental cataract		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital cataract	ClinVar	PMID:26694549
NHS	Human	Developmental cataract		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Congenital cataract	ClinVar	PMID:26694549
NHS	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868
NHS	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868 and PMID:28492532
NHS	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868 and PMID:28492532
NHS	Human	Intellectual disability		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar	PMID:25741868
NHS	Human	Prostate cancer		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Prostate cancer	ClinVar	PMID:28492532

#	Reference Title	Reference Citation
1.	New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.	Florijn RJ, etal., Eur J Hum Genet. 2006 Sep;14(9):986-90. Epub 2006 May 31.
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
5.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

PMID:1971992	PMID:10394933	PMID:10588643	PMID:12173028	PMID:12477932	PMID:14564667	PMID:14595111	PMID:15370543	PMID:15466011	PMID:15623749	PMID:15772651	PMID:16675532
PMID:16964243	PMID:17081983	PMID:17417607	PMID:18949062	PMID:19414485	PMID:19913121	PMID:20301552	PMID:20332100	PMID:20628086	PMID:20882036	PMID:21559051	PMID:21873635
PMID:22229851	PMID:22544364	PMID:23566852	PMID:24968223	PMID:25091991	PMID:25266737	PMID:25468996	PMID:26496610	PMID:26760575	PMID:27684187	PMID:27880917	PMID:28061824
PMID:28464487	PMID:28557584	PMID:28922055	PMID:29402928	PMID:29507755	PMID:30642278	PMID:31755796	PMID:31871319	PMID:32303606	PMID:32393512	PMID:32694731	PMID:33961781
PMID:34079125	PMID:34273398	PMID:34349018	PMID:34702444	PMID:35271311	PMID:36779422	PMID:36931259	PMID:36976175

NHS
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	17,375,200 - 17,735,994 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	17,375,200 - 17,735,994 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	17,393,323 - 17,754,114 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	17,303,464 - 17,664,035 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	17,153,199 - 17,513,768	NCBI
Celera	X	21,515,624 - 21,873,432 (+)	NCBI		Celera
Cytogenetic Map	X	p22.2-p22.13	NCBI
HuRef	X	15,153,213 - 15,512,673 (+)	NCBI		HuRef
CHM1_1	X	17,424,184 - 17,784,494 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	16,957,799 - 17,318,610 (+)	NCBI		T2T-CHM13v2.0

Nhs
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	160,616,286 - 160,942,437 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	160,616,292 - 160,942,726 (-)	Ensembl		GRCm39 Ensembl
GRCm38	X	161,833,290 - 162,159,441 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	161,833,296 - 162,159,730 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	158,274,200 - 158,597,722 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	157,180,373 - 157,503,895 (-)	NCBI		MGSCv36	mm8
Celera	X	145,069,096 - 145,393,381 (-)	NCBI		Celera
Cytogenetic Map	X	F4	NCBI
cM Map	X	74.17	NCBI

Nhs
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	36,185,067 - 36,524,711 (+)	NCBI		GRCr8
mRatBN7.2	X	32,553,300 - 32,892,961 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	32,552,026 - 32,889,992 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	33,582,578 - 33,916,873 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	37,022,712 - 37,359,427 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	33,207,548 - 33,541,837 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	34,312,102 - 34,675,912 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	34,623,405 - 34,673,742 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	34,656,286 - 35,018,650 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	53,321,827 - 53,720,326 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	X	32,845,030 - 33,180,545 (+)	NCBI		Celera
Cytogenetic Map	X	q14	NCBI

Nhs
(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_004955519	599,682 - 918,762 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955519	596,216 - 919,352 (-)	NCBI	ChiLan1.0	ChiLan1.0

NHS
(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	19,163,540 - 19,534,073 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	19,166,931 - 19,538,278 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	9,988,584 - 10,359,110 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	17,357,898 - 17,728,178 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	17,358,416 - 17,728,178 (+)	Ensembl	panpan1.1		panPan2

NHS
(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	13,487,919 - 13,834,869 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	13,488,515 - 13,831,386 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	13,339,834 - 13,686,761 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	13,451,227 - 13,798,368 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	13,451,793 - 13,795,287 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	13,518,311 - 13,864,906 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	13,504,402 - 13,851,231 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	13,573,553 - 13,920,854 (+)	NCBI		UU_Cfam_GSD_1.0

Nhs
(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	6,887,249 - 6,971,110 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936470	6,919,623 - 6,971,125 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936470	6,632,724 - 6,967,878 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NHS
(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	14,097,006 - 14,206,568 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	13,854,950 - 14,209,085 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	14,951,338 - 15,302,337 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NHS
(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	15,803,386 - 16,183,809 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	16,168,609 - 16,183,787 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666056	17,683,202 - 18,052,952 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Nhs
(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_004624829	2,186,048 - 2,517,372 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624829	2,185,410 - 2,520,869 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in NHS
523 total 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
NM_001291867.2(NHS):c.4433_4436delinsA (p.Ser1478_Ser1479delinsAsn)	indel	not provided [RCV000520534]	ChrX:17731941..17731944 [GRCh38] ChrX:17750061..17750064 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2450dup (p.Ser818fs)	duplication	Nance-Horan syndrome [RCV000011770]	ChrX:17726555..17726556 [GRCh38] ChrX:17744675..17744676 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.3522del (p.Leu1175fs)	deletion	Nance-Horan syndrome [RCV000011771]	ChrX:17727627 [GRCh38] ChrX:17745747 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.718+1dup	duplication	Nance-Horan syndrome [RCV000011773]	ChrX:17687893..17687894 [GRCh38] ChrX:17706013..17706014 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.916-2A>G	single nucleotide variant	Nance-Horan syndrome [RCV000011775]	ChrX:17721439 [GRCh38] ChrX:17739559 [GRCh37] ChrX:Xp22.13	pathogenic
NCBI36/hg18 Xp22.13(chrX:17104696-17800261)x3	copy number gain	Cataract 40 [RCV000011776]	ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.566-154020_566-149209del	deletion	Cataract 40 [RCV000011777]	ChrX:17533720..17538531 [GRCh38] ChrX:17551843..17556653 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.852+1del	deletion	Nance-Horan syndrome [RCV000170469]	ChrX:17692468 [GRCh38] ChrX:17710588 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.1180C>T (p.Arg394Ter)	single nucleotide variant	Cataract 40 [RCV004549356]\|Nance-Horan syndrome [RCV000011772]\|not provided [RCV000082793]	ChrX:17724370 [GRCh38] ChrX:17742490 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.115C>T (p.Gln39Ter)	single nucleotide variant	Nance-Horan syndrome [RCV000011774]	ChrX:17375872 [GRCh38] ChrX:17393995 [GRCh37] ChrX:Xp22.2	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	copy number loss	See cases [RCV000050811]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)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
NM_198270.3(NHS):c.565+123559G>C	single nucleotide variant	Lung cancer [RCV000102453]	ChrX:17499881 [GRCh38] ChrX:17518004 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_198270.3(NHS):c.566-6583C>G	single nucleotide variant	Lung cancer [RCV000102454]	ChrX:17681159 [GRCh38] ChrX:17699279 [GRCh37] ChrX:Xp22.13	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000050699]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	Global developmental delay [RCV000050386]\|See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1	copy number loss	See cases [RCV000051026]	ChrX:10679..52809182 [GRCh38] ChrX:60679..52838206 [GRCh37] ChrX:679..52854931 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	copy number gain	See cases [RCV000052324]	ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-q22.1(chrX:675360-100368517)x1	copy number loss	See cases [RCV000053005]	ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1	copy number loss	See cases [RCV000052981]	ChrX:10679..48344725 [GRCh38] ChrX:60679..48204160 [GRCh37] ChrX:679..48089104 [NCBI36] ChrX:Xp22.33-11.23	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 Xp22.33-11.3(chrX:675360-46016699)x3	copy number gain	See cases [RCV000052328]	ChrX:675360..46016699 [GRCh38] ChrX:636095..45876134 [GRCh37] ChrX:556095..45761078 [NCBI36] ChrX:Xp22.33-11.3	pathogenic
GRCh38/hg38 Xp22.2-22.13(chrX:17167171-18804175)x1	copy number loss	See cases [RCV000053060]	ChrX:17167171..18804175 [GRCh38] ChrX:17185294..18822293 [GRCh37] ChrX:17095215..18732214 [NCBI36] ChrX:Xp22.2-22.13	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 Xp22.33-11.21(chrX:26102-57302794)x1	copy number loss	See cases [RCV000052990]	ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	copy number loss	See cases [RCV000052994]	ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	Global developmental delay [RCV000052984]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|See cases [RCV000052971]	ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
NM_001291867.2(NHS):c.4428_4430dup (p.Ser1480dup)	duplication	Nance-Horan syndrome [RCV002055233]\|not provided [RCV000082804]\|not specified [RCV001818253]	ChrX:17731933..17731934 [GRCh38] ChrX:17750053..17750054 [GRCh37] ChrX:Xp22.13	benign\|likely benign\|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	Hypoplastic left heart [RCV000052982]\|See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	copy number loss	See cases [RCV000053007]	ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1	copy number loss	See cases [RCV000052993]	ChrX:253129..23023165 [GRCh38] ChrX:169796..23041282 [GRCh37] ChrX:109796..22951203 [NCBI36] ChrX:Xp22.33-22.11	pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]\|See cases [RCV000052970]	ChrX:10679..21811030 [GRCh38] ChrX:60679..21829148 [GRCh37] ChrX:679..21739069 [NCBI36] ChrX:Xp22.33-22.12	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3	copy number gain	See cases [RCV000053817]	ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
NM_198270.3(NHS):c.1118G>A (p.Arg373Gln)	single nucleotide variant	Malignant melanoma [RCV000073143]	ChrX:17724371 [GRCh38] ChrX:17742491 [GRCh37] ChrX:17652412 [NCBI36] ChrX:Xp22.13	not provided
NM_198270.3(NHS):c.3619C>T (p.Arg1207Cys)	single nucleotide variant	Malignant melanoma [RCV000063956]	ChrX:17727788 [GRCh38] ChrX:17745908 [GRCh37] ChrX:17655829 [NCBI36] ChrX:Xp22.13	not provided
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser)	single nucleotide variant	Inborn genetic diseases [RCV002311744]\|Nance-Horan syndrome [RCV000549596]\|not provided [RCV001573385]\|not specified [RCV000082794]	ChrX:17725820 [GRCh38] ChrX:17743940 [GRCh37] ChrX:Xp22.13	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters
NM_001291867.2(NHS):c.1965T>G (p.Pro655=)	single nucleotide variant	Inborn genetic diseases [RCV002313834]\|Nance-Horan syndrome [RCV002514450]\|not specified [RCV000082795]	ChrX:17726071 [GRCh38] ChrX:17744191 [GRCh37] ChrX:Xp22.13	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser)	single nucleotide variant	Inborn genetic diseases [RCV002313835]\|Nance-Horan syndrome [RCV001078975]\|not provided [RCV000224466]\|not specified [RCV000173025]	ChrX:17375968 [GRCh38] ChrX:17394091 [GRCh37] ChrX:Xp22.2	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del)	microsatellite	Inborn genetic diseases [RCV002311745]\|Nance-Horan syndrome [RCV000550294]\|not specified [RCV000082797]	ChrX:17375962..17375964 [GRCh38] ChrX:17394085..17394087 [GRCh37] ChrX:Xp22.2	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001291867.2(NHS):c.2330T>C (p.Phe777Ser)	single nucleotide variant	NHS-related disorder [RCV003945031]\|Nance-Horan syndrome [RCV002514451]\|not provided [RCV000871790]\|not specified [RCV000082798]	ChrX:17726436 [GRCh38] ChrX:17744556 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.2348G>A (p.Gly783Glu)	single nucleotide variant	not provided [RCV000082799]	ChrX:17726454 [GRCh38] ChrX:17744574 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.302_337dup (p.Glu101_Ala112dup)	duplication	Inborn genetic diseases [RCV002313836]\|Nance-Horan syndrome [RCV000538726]\|not provided [RCV000082800]	ChrX:17376055..17376056 [GRCh38] ChrX:17394178..17394179 [GRCh37] ChrX:Xp22.2	likely benign\|uncertain significance
NM_001291867.2(NHS):c.3545C>T (p.Pro1182Leu)	single nucleotide variant	Inborn genetic diseases [RCV002453411]\|Nance-Horan syndrome [RCV000949202]\|not provided [RCV001647068]\|not specified [RCV000082801]	ChrX:17727651 [GRCh38] ChrX:17745771 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val)	single nucleotide variant	NHS-related disorder [RCV003964949]\|Nance-Horan syndrome [RCV000638456]\|not provided [RCV001572713]\|not specified [RCV000194958]	ChrX:17728035 [GRCh38] ChrX:17746155 [GRCh37] ChrX:Xp22.13	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001291867.2(NHS):c.400del (p.Arg134fs)	deletion	not provided [RCV000082803]	ChrX:17376155 [GRCh38] ChrX:17394278 [GRCh37] ChrX:Xp22.2	pathogenic
NM_001291867.2(NHS):c.513C>T (p.Leu171=)	single nucleotide variant	Inborn genetic diseases [RCV002336241]\|Nance-Horan syndrome [RCV002514452]\|not provided [RCV000723670]\|not specified [RCV000082805]	ChrX:17376270 [GRCh38] ChrX:17394393 [GRCh37] ChrX:Xp22.2	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001291867.2(NHS):c.566-10dup	duplication	Cataract 40 [RCV001781411]\|Nance-Horan syndrome [RCV001781410]\|Nance-Horan syndrome [RCV002490731]\|not provided [RCV001610384]\|not specified [RCV000082806]	ChrX:17687730..17687731 [GRCh38] ChrX:17705850..17705851 [GRCh37] ChrX:Xp22.13	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001291867.2(NHS):c.765C>G (p.Pro255=)	single nucleotide variant	Inborn genetic diseases [RCV002390248]\|Nance-Horan syndrome [RCV001089186]\|not provided [RCV000082807]	ChrX:17692381 [GRCh38] ChrX:17710501 [GRCh37] ChrX:Xp22.13	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001291867.2(NHS):c.1016G>A (p.Trp339Ter)	single nucleotide variant	not provided [RCV000082808]	ChrX:17721541 [GRCh38] ChrX:17739661 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.2593G>A (p.Ala865Thr)	single nucleotide variant	Inborn genetic diseases [RCV002313908]\|Nance-Horan syndrome [RCV000541891]\|not specified [RCV000192005]	ChrX:17726699 [GRCh38] ChrX:17744819 [GRCh37] ChrX:Xp22.13	benign\|likely benign\|uncertain significance
NM_001291867.2(NHS):c.333GGC[5] (p.Ala117del)	microsatellite	Nance-Horan syndrome [RCV002528220]\|not provided [RCV000117785]	ChrX:17376089..17376091 [GRCh38] ChrX:17394212..17394214 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.333GGC[3] (p.Ala115_Ala117del)	microsatellite	not provided [RCV000117786]	ChrX:17376089..17376097 [GRCh38] ChrX:17394212..17394220 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.2047G>A (p.Val683Met)	single nucleotide variant	Nance-Horan syndrome [RCV003621503]\|not provided [RCV000117787]	ChrX:17726153 [GRCh38] ChrX:17744273 [GRCh37] ChrX:Xp22.13	benign\|uncertain significance
NM_001291867.2(NHS):c.2831A>T (p.His944Leu)	single nucleotide variant	Inborn genetic diseases [RCV002312190]\|Nance-Horan syndrome [RCV001085286]\|not provided [RCV000826994]\|not specified [RCV000117789]	ChrX:17726937 [GRCh38] ChrX:17745057 [GRCh37] ChrX:Xp22.13	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters
NM_001291867.2(NHS):c.3201T>C (p.Ser1067=)	single nucleotide variant	Inborn genetic diseases [RCV002312191]\|Nance-Horan syndrome [RCV000555315]\|not provided [RCV001689654]\|not specified [RCV000117790]	ChrX:17727307 [GRCh38] ChrX:17745427 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.3204A>G (p.Leu1068=)	single nucleotide variant	Inborn genetic diseases [RCV002312192]\|Nance-Horan syndrome [RCV000531477]\|not provided [RCV001650961]\|not specified [RCV000117791]	ChrX:17727310 [GRCh38] ChrX:17745430 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu)	single nucleotide variant	Inborn genetic diseases [RCV002312193]\|Nance-Horan syndrome [RCV001510336]\|not provided [RCV000836772]\|not specified [RCV000117792]	ChrX:17728124 [GRCh38] ChrX:17746244 [GRCh37] ChrX:Xp22.13	benign\|likely benign\|conflicting interpretations of pathogenicity\|conflicting data from submitters
NM_001291867.2(NHS):c.4832G>C (p.Ser1611Thr)	single nucleotide variant	Nance-Horan syndrome [RCV000874432]\|not specified [RCV000117793]	ChrX:17732340 [GRCh38] ChrX:17750460 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.766C>G (p.Leu256Val)	single nucleotide variant	Inborn genetic diseases [RCV002390267]\|Nance-Horan syndrome [RCV002528221]\|not specified [RCV000117794]	ChrX:17692382 [GRCh38] ChrX:17710502 [GRCh37] ChrX:Xp22.13	benign\|uncertain significance
NM_001291867.2(NHS):c.1008G>C (p.Gln336His)	single nucleotide variant	Intellectual disability [RCV001251846]\|Nance-Horan syndrome [RCV005057159]\|not provided [RCV003442815]	ChrX:17721533 [GRCh38] ChrX:17739653 [GRCh37] ChrX:Xp22.13	likely benign\|uncertain significance
NM_001291867.2(NHS):c.828G>A (p.Glu276=)	single nucleotide variant	Inborn genetic diseases [RCV002426855]\|Nance-Horan syndrome [RCV000533405]\|not provided [RCV001311818]\|not specified [RCV000177428]	ChrX:17692444 [GRCh38] ChrX:17710564 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.1175G>A (p.Arg392Gln)	single nucleotide variant	Inborn genetic diseases [RCV000190792]\|Nance-Horan syndrome [RCV002514089]\|not provided [RCV000594957]	ChrX:17724365 [GRCh38] ChrX:17742485 [GRCh37] ChrX:Xp22.13	likely pathogenic\|benign\|uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1	copy number loss	See cases [RCV000133817]	ChrX:10701..52857805 [GRCh38] ChrX:60701..52886834 [GRCh37] ChrX:701..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1	copy number loss	See cases [RCV000133745]	ChrX:10679..50059388 [GRCh38] ChrX:60679..49824045 [GRCh37] ChrX:679..49710785 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	copy number loss	See cases [RCV000134568]	ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	copy number loss	See cases [RCV000134026]	ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1	copy number loss	See cases [RCV000135305]	ChrX:8176030..53962833 [GRCh38] ChrX:8144071..53989266 [GRCh37] ChrX:8104071..54005991 [NCBI36] ChrX:Xp22.31-11.22	pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1	copy number loss	See cases [RCV000135299]	ChrX:233335..37292980 [GRCh38] ChrX:150002..37152232 [GRCh37] ChrX:90002..37037153 [NCBI36] ChrX:Xp22.33-21.1	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3	copy number gain	See cases [RCV000134957]	ChrX:10679..52857805 [GRCh38] ChrX:60679..52886834 [GRCh37] ChrX:679..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 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 Xp22.33-11.22(chrX:10679-52213731)x1	copy number loss	See cases [RCV000137112]	ChrX:10679..52213731 [GRCh38] ChrX:60679..51948998 [GRCh37] ChrX:679..51973598 [NCBI36] ChrX:Xp22.33-11.22	pathogenic\|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	copy number gain	See cases [RCV000137137]	ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1	copy number loss	See cases [RCV000137430]	ChrX:10701..52033734 [GRCh38] ChrX:60701..51776830 [GRCh37] ChrX:701..51793570 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	copy number loss	See cases [RCV000137552]	ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1	copy number loss	See cases [RCV000138069]	ChrX:12254555..30410580 [GRCh38] ChrX:12272674..30428697 [GRCh37] ChrX:12182595..30338618 [NCBI36] ChrX:Xp22.2-21.2	pathogenic\|likely pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	copy number loss	See cases [RCV000138678]	ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	copy number loss	See cases [RCV000139343]	ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	copy number loss	See cases [RCV000139278]	ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	copy number loss	See cases [RCV000139352]	ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	copy number gain	See cases [RCV000140786]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1	copy number loss	See cases [RCV000141741]	ChrX:251879..50289363 [GRCh38] ChrX:168546..50032363 [GRCh37] ChrX:108546..50049103 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	copy number loss	See cases [RCV000142334]	ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1	copy number loss	See cases [RCV000142035]	ChrX:251880..51643625 [GRCh38] ChrX:168547..51386559 [GRCh37] ChrX:108547..51403299 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	copy number gain	See cases [RCV000142134]	ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-11.22(chrX:10701-53131191)x1	copy number loss	See cases [RCV000143348]	ChrX:10701..53131191 [GRCh38] ChrX:60701..53047381 [GRCh37] ChrX:701..53177098 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.2-22.13(chrX:16967798-17710902)x3	copy number gain	See cases [RCV000143672]	ChrX:16967798..17710902 [GRCh38] ChrX:16985921..17729022 [GRCh37] ChrX:16895842..17638943 [NCBI36] ChrX:Xp22.2-22.13	likely benign\|uncertain significance
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1	copy number loss	See cases [RCV000143496]	ChrX:251879..35885004 [GRCh38] ChrX:168546..35903121 [GRCh37] ChrX:108546..35813042 [NCBI36] ChrX:Xp22.33-21.1	pathogenic
NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr)	single nucleotide variant	Inborn genetic diseases [RCV002336312]\|Nance-Horan syndrome [RCV000552111]\|not provided [RCV001723719]\|not specified [RCV000153559]	ChrX:17732174 [GRCh38] ChrX:17750294 [GRCh37] ChrX:Xp22.13	benign\|likely benign
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
NM_001291867.2(NHS):c.152C>T (p.Ala51Val)	single nucleotide variant	Inborn genetic diseases [RCV002316969]\|Nance-Horan syndrome [RCV000764867]\|Nance-Horan syndrome [RCV001349017]\|not provided [RCV000153563]	ChrX:17375909 [GRCh38] ChrX:17394032 [GRCh37] ChrX:Xp22.2	likely benign\|uncertain significance
NM_001291867.2(NHS):c.565+1G>T	single nucleotide variant	not provided [RCV000153564]	ChrX:17376323 [GRCh38] ChrX:17394446 [GRCh37] ChrX:Xp22.2	pathogenic
NM_001291867.2(NHS):c.618G>A (p.Pro206=)	single nucleotide variant	Inborn genetic diseases [RCV002354359]\|Nance-Horan syndrome [RCV003621506]\|not provided [RCV000153565]	ChrX:17687794 [GRCh38] ChrX:17705914 [GRCh37] ChrX:Xp22.13	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001291867.2(NHS):c.1108G>A (p.Gly370Arg)	single nucleotide variant	Nance-Horan syndrome [RCV002516083]\|not provided [RCV000153566]	ChrX:17721633 [GRCh38] ChrX:17739753 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1143C>T (p.Cys381=)	single nucleotide variant	Nance-Horan syndrome [RCV002516084]\|not provided [RCV000153567]	ChrX:17724333 [GRCh38] ChrX:17742453 [GRCh37] ChrX:Xp22.13	benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001291867.2(NHS):c.1155T>C (p.His385=)	single nucleotide variant	not provided [RCV000153568]	ChrX:17724345 [GRCh38] ChrX:17742465 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2633del (p.Gly878fs)	deletion	not provided [RCV000153569]	ChrX:17726738 [GRCh38] ChrX:17744858 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.660A>C (p.Pro220=)	single nucleotide variant	not provided [RCV000176005]	ChrX:17687836 [GRCh38] ChrX:17705956 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4051G>A (p.Asp1351Asn)	single nucleotide variant	Inborn genetic diseases [RCV002317699]\|NHS-related disorder [RCV003937700]\|Nance-Horan syndrome [RCV000878906]\|not specified [RCV000193140]	ChrX:17728157 [GRCh38] ChrX:17746277 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.1163C>T (p.Ser388Leu)	single nucleotide variant	Nance-Horan syndrome [RCV003621519]\|not specified [RCV000193889]	ChrX:17724353 [GRCh38] ChrX:17742473 [GRCh37] ChrX:Xp22.13	likely benign\|uncertain significance
NM_001291867.2(NHS):c.4813C>T (p.Arg1605Trp)	single nucleotide variant	not specified [RCV000194371]	ChrX:17732321 [GRCh38] ChrX:17750441 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2234C>T (p.Ala745Val)	single nucleotide variant	not provided [RCV000179567]	ChrX:17726340 [GRCh38] ChrX:17744460 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1327G>A (p.Gly443Arg)	single nucleotide variant	Inborn genetic diseases [RCV002444719]\|Nance-Horan syndrome [RCV003509508]\|not provided [RCV000179568]	ChrX:17725433 [GRCh38] ChrX:17743553 [GRCh37] ChrX:Xp22.13	likely benign\|uncertain significance
NM_001291867.2(NHS):c.1603G>A (p.Val535Met)	single nucleotide variant	Inborn genetic diseases [RCV002399640]\|Nance-Horan syndrome [RCV001520145]\|not provided [RCV000179569]	ChrX:17725709 [GRCh38] ChrX:17743829 [GRCh37] ChrX:Xp22.13	benign\|uncertain significance
NM_001291867.2(NHS):c.3408G>A (p.Thr1136=)	single nucleotide variant	Inborn genetic diseases [RCV002321708]\|Nance-Horan syndrome [RCV005089896]\|not provided [RCV000179570]	ChrX:17727514 [GRCh38] ChrX:17745634 [GRCh37] ChrX:Xp22.13	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002317058]\|Nance-Horan syndrome [RCV000871215]\|Nance-Horan syndrome [RCV002500511]\|not specified [RCV000179571]	ChrX:17727416 [GRCh38] ChrX:17745536 [GRCh37] ChrX:Xp22.13	benign\|likely benign\|uncertain significance
NM_001291867.2(NHS):c.4860G>C (p.Arg1620=)	single nucleotide variant	Nance-Horan syndrome [RCV003621511]\|not provided [RCV000180385]	ChrX:17732368 [GRCh38] ChrX:17750488 [GRCh37] ChrX:Xp22.13	likely benign\|uncertain significance
NM_001291867.2(NHS):c.4783A>C (p.Thr1595Pro)	single nucleotide variant	Cataract 40 [RCV001331999]\|not provided [RCV000180386]	ChrX:17732291 [GRCh38] ChrX:17750411 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.176_177delinsAA (p.Arg59Gln)	indel	Nance-Horan syndrome [RCV000764868]\|Nance-Horan syndrome [RCV002517104]\|not specified [RCV000195061]	ChrX:17375933..17375934 [GRCh38] ChrX:17394056..17394057 [GRCh37] ChrX:Xp22.2	likely pathogenic\|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001291867.2(NHS):c.2770del (p.Glu924fs)	deletion	Developmental cataract [RCV000203327]	ChrX:17726875 [GRCh38] ChrX:17744995 [GRCh37] ChrX:Xp22.13	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	copy number gain	See cases [RCV000239834]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [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:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001291867.2(NHS):c.3891C>T (p.Asp1297=)	single nucleotide variant	Nance-Horan syndrome [RCV002519097]\|not provided [RCV000344033]	ChrX:17727997 [GRCh38] ChrX:17746117 [GRCh37] ChrX:Xp22.13	likely benign\|uncertain significance
NM_001291867.2(NHS):c.827A>G (p.Glu276Gly)	single nucleotide variant	Nance-Horan syndrome [RCV005090348]\|not provided [RCV000384436]	ChrX:17692443 [GRCh38] ChrX:17710563 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3515C>T (p.Thr1172Met)	single nucleotide variant	Nance-Horan syndrome [RCV003509525]\|not provided [RCV000401899]	ChrX:17727621 [GRCh38] ChrX:17745741 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4646C>A (p.Pro1549His)	single nucleotide variant	not provided [RCV000488139]	ChrX:17732154 [GRCh38] ChrX:17750274 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3447del (p.Glu1150fs)	deletion	not provided [RCV000598804]	ChrX:17727553 [GRCh38] ChrX:17745673 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.1038del (p.Thr347fs)	deletion	not provided [RCV000627515]	ChrX:17721563 [GRCh38] ChrX:17739683 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.408C>T (p.Leu136=)	single nucleotide variant	Nance-Horan syndrome [RCV000638457]	ChrX:17376165 [GRCh38] ChrX:17394288 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.2277T>C (p.Tyr759=)	single nucleotide variant	Nance-Horan syndrome [RCV000526445]	ChrX:17726383 [GRCh38] ChrX:17744503 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.2921T>C (p.Val974Ala)	single nucleotide variant	not provided [RCV000733988]	ChrX:17727027 [GRCh38] ChrX:17745147 [GRCh37] ChrX:Xp22.13	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3	copy number gain	See cases [RCV000446310]	ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001291867.2(NHS):c.4259T>A (p.Leu1420His)	single nucleotide variant	not provided [RCV000417580]	ChrX:17728685 [GRCh38] ChrX:17746805 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.949A>G (p.Met317Val)	single nucleotide variant	not provided [RCV000433131]	ChrX:17721474 [GRCh38] ChrX:17739594 [GRCh37] ChrX:Xp22.13	uncertain significance
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1	copy number loss	See cases [RCV000447773]	ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
NM_001291867.2(NHS):c.565+5G>A	single nucleotide variant	Nance-Horan syndrome [RCV002526598]\|not provided [RCV000483234]	ChrX:17376327 [GRCh38] ChrX:17394450 [GRCh37] ChrX:Xp22.2	likely pathogenic\|uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	copy number loss	See cases [RCV000512136]	ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1	copy number loss	See cases [RCV000510590]	ChrX:168546..37515849 [GRCh37] ChrX:Xp22.33-21.1	pathogenic
NM_001291867.2(NHS):c.553C>T (p.Gln185Ter)	single nucleotide variant	not provided [RCV000498807]	ChrX:17376310 [GRCh38] ChrX:17394433 [GRCh37] ChrX:Xp22.2	pathogenic
NM_001291867.2(NHS):c.3786G>A (p.Thr1262=)	single nucleotide variant	NHS-related disorder [RCV003942642]\|Nance-Horan syndrome [RCV000878244]\|not specified [RCV000503582]	ChrX:17727892 [GRCh38] ChrX:17746012 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3093G>A (p.Thr1031=)	single nucleotide variant	Nance-Horan syndrome [RCV000922901]\|not specified [RCV000501799]	ChrX:17727199 [GRCh38] ChrX:17745319 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.4167T>C (p.Ser1389=)	single nucleotide variant	Nance-Horan syndrome [RCV002524233]\|not specified [RCV000501873]	ChrX:17728273 [GRCh38] ChrX:17746393 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.4448C>G (p.Ser1483Cys)	single nucleotide variant	Nance-Horan syndrome [RCV000498961]	ChrX:17731956 [GRCh38] ChrX:17750076 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.3262C>A (p.His1088Asn)	single nucleotide variant	Inborn genetic diseases [RCV002524234]\|not specified [RCV000502058]	ChrX:17727368 [GRCh38] ChrX:17745488 [GRCh37] ChrX:Xp22.13	uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	copy number loss	See cases [RCV000510419]	ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23	pathogenic
NM_001291867.2(NHS):c.4082C>T (p.Ser1361Leu)	single nucleotide variant	Inborn genetic diseases [RCV003352896]\|Nance-Horan syndrome [RCV002060133]\|not specified [RCV000500074]	ChrX:17728188 [GRCh38] ChrX:17746308 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.503A>G (p.Gln168Arg)	single nucleotide variant	Nance-Horan syndrome [RCV003509554]\|not specified [RCV000500241]	ChrX:17376260 [GRCh38] ChrX:17394383 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.739C>T (p.Arg247Cys)	single nucleotide variant	Inborn genetic diseases [RCV002383969]\|Nance-Horan syndrome [RCV003766831]\|not provided [RCV000878302]\|not specified [RCV000502766]	ChrX:17692355 [GRCh38] ChrX:17710475 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.249G>T (p.Pro83=)	single nucleotide variant	not specified [RCV000508275]	ChrX:17376006 [GRCh38] ChrX:17394129 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.4087A>G (p.Ile1363Val)	single nucleotide variant	Inborn genetic diseases [RCV003290336]\|Nance-Horan syndrome [RCV005102583]	ChrX:17728193 [GRCh38] ChrX:17746313 [GRCh37] ChrX:Xp22.13	benign\|uncertain significance
NM_001291867.2(NHS):c.277G>T (p.Glu93Ter)	single nucleotide variant	Nance-Horan syndrome [RCV000526164]	ChrX:17376034 [GRCh38] ChrX:17394157 [GRCh37] ChrX:Xp22.2	pathogenic
NM_001291867.2(NHS):c.1998G>A (p.Glu666=)	single nucleotide variant	not provided [RCV000596024]	ChrX:17726104 [GRCh38] ChrX:17744224 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4156A>T (p.Lys1386Ter)	single nucleotide variant	Nance-Horan syndrome [RCV000539510]	ChrX:17728262 [GRCh38] ChrX:17746382 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.3245del (p.Pro1082fs)	deletion	Inborn genetic diseases [RCV000623283]	ChrX:17727350 [GRCh38] ChrX:17745470 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.566-52165C>T	single nucleotide variant	not provided [RCV000514409]	ChrX:17635577 [GRCh38] ChrX:17653697 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3841C>T (p.Arg1281Cys)	single nucleotide variant	Inborn genetic diseases [RCV003248732]	ChrX:17727947 [GRCh38] ChrX:17746067 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1462_1465del (p.Asp488fs)	deletion	Nance-Horan syndrome [RCV000536969]	ChrX:17725566..17725569 [GRCh38] ChrX:17743686..17743689 [GRCh37] ChrX:Xp22.13	pathogenic
NC_000023.11:g.(?_17692315)_(17692488_?)del	deletion	Nance-Horan syndrome [RCV000560767]	ChrX:17692315..17692488 [GRCh38] ChrX:17710435..17710608 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.1760T>C (p.Met587Thr)	single nucleotide variant	Inborn genetic diseases [RCV002314975]\|NHS-related disorder [RCV003960299]\|Nance-Horan syndrome [RCV000525160]\|not provided [RCV001722470]	ChrX:17725866 [GRCh38] ChrX:17743986 [GRCh37] ChrX:Xp22.13	benign\|likely benign
GRCh37/hg19 Xp22.13(chrX:17674125-17991059)x2	copy number gain	See cases [RCV000512183]	ChrX:17674125..17991059 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4250T>G (p.Ile1417Ser)	single nucleotide variant	Inborn genetic diseases [RCV000624910]	ChrX:17728676 [GRCh38] ChrX:17746796 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.397del (p.Ala133fs)	deletion	not provided [RCV000658317]	ChrX:17376153 [GRCh38] ChrX:17394276 [GRCh37] ChrX:Xp22.2	pathogenic
NM_001291867.2(NHS):c.1253del (p.Ser418fs)	deletion	not provided [RCV000658316]	ChrX:17725359 [GRCh38] ChrX:17743479 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.2093G>A (p.Arg698Gln)	single nucleotide variant	Inborn genetic diseases [RCV002314406]\|NHS-related disorder [RCV003918160]\|Nance-Horan syndrome [RCV000887487]	ChrX:17726199 [GRCh38] ChrX:17744319 [GRCh37] ChrX:Xp22.13	benign\|likely benign
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3	copy number gain	not provided [RCV000684187]	ChrX:201704..20682168 [GRCh37] ChrX:Xp22.33-22.12	pathogenic
NM_001291867.2(NHS):c.1111G>T (p.Val371Phe)	single nucleotide variant	not provided [RCV000087257]	ChrX:17724301 [GRCh38] ChrX:17742421 [GRCh37] ChrX:Xp22.13	uncertain significance
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
Single allele	single nucleotide variant	not provided [RCV000171540]	ChrX:17744091 [GRCh37] ChrX:Xp22.13	likely pathogenic
Single allele	single nucleotide variant	not provided [RCV000171541]	ChrX:17744617 [GRCh37] ChrX:Xp22.13	likely pathogenic
NM_001291867.2(NHS):c.666C>T (p.Cys222=)	single nucleotide variant	Inborn genetic diseases [RCV002362894]\|Nance-Horan syndrome [RCV002056947]\|not provided [RCV003436970]\|not specified [RCV000176004]	ChrX:17687842 [GRCh38] ChrX:17705962 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.3687C>A (p.Cys1229Ter)	single nucleotide variant	Developmental cataract [RCV000203345]	ChrX:17727793 [GRCh38] ChrX:17745913 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.1596G>A (p.Glu532=)	single nucleotide variant	Inborn genetic diseases [RCV002390440]\|Nance-Horan syndrome [RCV002515278]\|not provided [RCV003436974]\|not specified [RCV000179565]	ChrX:17725702 [GRCh38] ChrX:17743822 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu)	single nucleotide variant	Inborn genetic diseases [RCV002317057]\|Nance-Horan syndrome [RCV000876610]\|not specified [RCV000179566]	ChrX:17727480 [GRCh38] ChrX:17745600 [GRCh37] ChrX:Xp22.13	benign\|conflicting interpretations of pathogenicity
NM_001291867.2(NHS):c.4582T>C (p.Ser1528Pro)	single nucleotide variant	Nance-Horan syndrome [RCV001331998]	ChrX:17732090 [GRCh38] ChrX:17750210 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.565+7A>C	single nucleotide variant	not provided [RCV000173588]	ChrX:17376329 [GRCh38] ChrX:17394452 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.147C>T (p.Val49=)	single nucleotide variant	not provided [RCV000173589]	ChrX:17375904 [GRCh38] ChrX:17394027 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.401G>A (p.Arg134His)	single nucleotide variant	not provided [RCV000173590]	ChrX:17376158 [GRCh38] ChrX:17394281 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.49C>T (p.Arg17Trp)	single nucleotide variant	Inborn genetic diseases [RCV003258677]\|not provided [RCV000173591]	ChrX:17375806 [GRCh38] ChrX:17393929 [GRCh37] ChrX:Xp22.2	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	copy number loss	See cases [RCV000133792]	ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28	pathogenic
NM_001291867.2(NHS):c.2204G>A (p.Arg735His)	single nucleotide variant	Inborn genetic diseases [RCV002312983]\|Malignant tumor of prostate [RCV000149387]\|Nance-Horan syndrome [RCV002516003]	ChrX:17726310 [GRCh38] ChrX:17744430 [GRCh37] ChrX:Xp22.13	pathogenic\|benign\|likely benign\|uncertain significance
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
NM_001291867.2(NHS):c.694C>T (p.Gln232Ter)	single nucleotide variant	NHS-related disorder [RCV004730908]\|Nance-Horan syndrome [RCV000211110]	ChrX:17687870 [GRCh38] ChrX:17705990 [GRCh37] ChrX:Xp22.13	pathogenic\|likely 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 Xp22.2-22.11(chrX:15173626-23952585)x2	copy number gain	See cases [RCV000134875]	ChrX:15173626..23952585 [GRCh38] ChrX:15191748..23970702 [GRCh37] ChrX:15101669..23880623 [NCBI36] ChrX:Xp22.2-22.11	pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1	copy number loss	See cases [RCV000135551]	ChrX:10679..36186635 [GRCh38] ChrX:60679..36202463 [GRCh37] ChrX:679..36114673 [NCBI36] ChrX:Xp22.33-21.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	copy number loss	See cases [RCV000136478]	ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	copy number loss	See cases [RCV000136097]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3	copy number gain	See cases [RCV000137383]	ChrX:10701..21866242 [GRCh38] ChrX:60701..21884360 [GRCh37] ChrX:701..21794281 [NCBI36] ChrX:Xp22.33-22.12	uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1	copy number loss	See cases [RCV000137166]	ChrX:10679..49157514 [GRCh38] ChrX:60679..49016667 [GRCh37] ChrX:679..48903611 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1	copy number loss	See cases [RCV000137413]	ChrX:10701..49071220 [GRCh38] ChrX:60701..48928877 [GRCh37] ChrX:701..48815821 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1	copy number loss	See cases [RCV000138019]	ChrX:10701..37723318 [GRCh38] ChrX:60701..37318587 [GRCh37] ChrX:701..37467510 [NCBI36] ChrX:Xp22.33-21.1	pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	copy number loss	See cases [RCV000137886]	ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	copy number gain	See cases [RCV000141400]	ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3	copy number gain	See cases [RCV000141261]	ChrX:3909315..38682287 [GRCh38] ChrX:3827356..38541541 [GRCh37] ChrX:3837356..38426485 [NCBI36] ChrX:Xp22.33-11.4	uncertain significance
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 Xp22.33-11.22(chrX:10701-53750424)x1	copy number loss	See cases [RCV000140711]	ChrX:10701..53750424 [GRCh38] ChrX:60701..53776922 [GRCh37] ChrX:701..53793647 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	copy number loss	See cases [RCV000140787]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.2-22.13(chrX:15789793-18902428)x1	copy number loss	See cases [RCV000141732]	ChrX:15789793..18902428 [GRCh38] ChrX:15807916..18920546 [GRCh37] ChrX:15717837..18830467 [NCBI36] ChrX:Xp22.2-22.13	pathogenic
GRCh38/hg38 Xp22.2-22.13(chrX:17310142-17506167)x3	copy number gain	See cases [RCV000141446]	ChrX:17310142..17506167 [GRCh38] ChrX:17328265..17524290 [GRCh37] ChrX:17238186..17434211 [NCBI36] ChrX:Xp22.2-22.13	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 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 Xp22.33-11.21(chrX:251879-56428859)x1	copy number loss	See cases [RCV000143130]	ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.2-22.12(chrX:12856740-19380317)x2	copy number gain	See cases [RCV000143774]	ChrX:12856740..19380317 [GRCh38] ChrX:12874859..19398435 [GRCh37] ChrX:12784780..19308356 [NCBI36] ChrX:Xp22.2-22.12	likely pathogenic
GRCh37/hg19 Xp22.2-22.13(chrX:16997258-17701223)x2	copy number gain	See cases [RCV000240031]	ChrX:16997258..17701223 [GRCh37] ChrX:Xp22.2-22.13	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001291867.2(NHS):c.1943_1945dup (p.Thr648dup)	duplication	not specified [RCV000192923]	ChrX:17726047..17726048 [GRCh38] ChrX:17744167..17744168 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.310_345del (p.Pro104_Ala115del)	deletion	Inborn genetic diseases [RCV002311301]\|Nance-Horan syndrome [RCV002057003]\|not specified [RCV000193261]	ChrX:17376060..17376095 [GRCh38] ChrX:17394183..17394218 [GRCh37] ChrX:Xp22.2	benign\|uncertain significance
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 Xp22.33-11.21(chrX:70297-58066465)x1	copy number loss	See cases [RCV000239814]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 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:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)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:60701-155246271)x3	copy number gain	See cases [RCV000239989]	ChrX:60701..155246271 [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 Xp22.33-21.1(chrX:71267-35809046)x1	copy number loss	See cases [RCV000240335]	ChrX:71267..35809046 [GRCh37] ChrX:Xp22.33-21.1	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 Xp22.33-21.3(chrX:1378591-25940311)x2	copy number gain	See cases [RCV000240441]	ChrX:1378591..25940311 [GRCh37] ChrX:Xp22.33-21.3	pathogenic
NM_001291867.2(NHS):c.566-52082C>T	single nucleotide variant	not provided [RCV002283174]	ChrX:17635660 [GRCh38] ChrX:17653780 [GRCh37] ChrX:Xp22.13	likely benign
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	copy number gain	not provided [RCV000488046]	ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25	uncertain significance
NM_001291867.2(NHS):c.2617C>T (p.Pro873Ser)	single nucleotide variant	not provided [RCV000519933]	ChrX:17726723 [GRCh38] ChrX:17744843 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1231C>T (p.Gln411Ter)	single nucleotide variant	Inborn genetic diseases [RCV000623307]\|Nance-Horan syndrome [RCV001860427]	ChrX:17724421 [GRCh38] ChrX:17742541 [GRCh37] ChrX:Xp22.13	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1	copy number loss	not provided [RCV000753274]	ChrX:60814..51821765 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1	copy number loss	not provided [RCV000753275]	ChrX:60814..55476165 [GRCh37] ChrX:Xp22.33-11.21	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 Xp22.33-11.3(chrX:168546-43917011)x3	copy number gain	See cases [RCV000449393]	ChrX:168546..43917011 [GRCh37] ChrX:Xp22.33-11.3	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	copy number loss	See cases [RCV000449461]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3	copy number gain	See cases [RCV000449437]	ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1	copy number loss	See cases [RCV000446584]	ChrX:168546..55529093 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1	copy number loss	See cases [RCV000447092]	ChrX:168546..56684082 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-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 Xp22.33-11.22(chrX:168546-52573789)x1	copy number loss	See cases [RCV000447470]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	See cases [RCV000446932]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)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 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:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	See cases [RCV000448393]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	copy number loss	See cases [RCV000510382]	ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-22.13(chrX:16985921-17731101)x2	copy number gain	See cases [RCV000510220]	ChrX:16985921..17731101 [GRCh37] ChrX:Xp22.2-22.13	uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1	copy number loss	See cases [RCV000510308]	ChrX:168546..35841052 [GRCh37] ChrX:Xp22.33-21.1	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	copy number loss	See cases [RCV000510437]	ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	copy number loss	See cases [RCV000511615]	ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	copy number loss	See cases [RCV000512022]	ChrX:168546..57683964 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1	copy number loss	See cases [RCV000511350]	ChrX:168546..31085327 [GRCh37] ChrX:Xp22.33-21.2	pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2	copy number gain	See cases [RCV000511443]	ChrX:15290524..29747172 [GRCh37] ChrX:Xp22.2-21.2	likely 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 Xp22.33-11.21(chrX:168546-54996659)x1	copy number loss	See cases [RCV000510822]	ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3	copy number gain	See cases [RCV000512204]	ChrX:168546..24780527 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
NM_001291867.2(NHS):c.2909C>T (p.Thr970Met)	single nucleotide variant	Inborn genetic diseases [RCV002438693]\|Nance-Horan syndrome [RCV000638458]	ChrX:17727015 [GRCh38] ChrX:17745135 [GRCh37] ChrX:Xp22.13	likely benign\|uncertain significance
NC_000023.10:g.(?_17393861)_(17653740_?)del	deletion	Nance-Horan syndrome [RCV000638459]	ChrX:17393861..17653740 [GRCh37] ChrX:Xp22.13	pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	copy number loss	See cases [RCV000512142]	ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	copy number loss	See cases [RCV000512339]	ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_001291867.2(NHS):c.1723A>G (p.Lys575Glu)	single nucleotide variant	Inborn genetic diseases [RCV002316806]\|Nance-Horan syndrome [RCV002534954]	ChrX:17725829 [GRCh38] ChrX:17743949 [GRCh37] ChrX:Xp22.13	likely benign\|uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1	copy number loss	not provided [RCV000684183]	ChrX:168546..23785738 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1	copy number loss	not provided [RCV000684182]	ChrX:168546..18601364 [GRCh37] ChrX:Xp22.33-22.13	pathogenic
GRCh37/hg19 Xp22.2-22.13(chrX:16709776-17445121)x2	copy number gain	not provided [RCV000684280]	ChrX:16709776..17445121 [GRCh37] ChrX:Xp22.2-22.13	uncertain significance
NM_001291867.2(NHS):c.814C>T (p.Gln272Ter)	single nucleotide variant	Nance-Horan syndrome [RCV000699776]	ChrX:17692430 [GRCh38] ChrX:17710550 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.2477G>A (p.Trp826Ter)	single nucleotide variant	Nance-Horan syndrome [RCV000691139]	ChrX:17726583 [GRCh38] ChrX:17744703 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.4153G>A (p.Ala1385Thr)	single nucleotide variant	Nance-Horan syndrome [RCV000688774]	ChrX:17728259 [GRCh38] ChrX:17746379 [GRCh37] ChrX:Xp22.13	benign\|uncertain significance
NC_000023.10:g.(?_17393861)_(18671684_?)del	deletion	Developmental and epileptic encephalopathy, 2 [RCV000708502]	ChrX:17393861..18671684 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.350C>T (p.Ala117Val)	single nucleotide variant	Inborn genetic diseases [RCV002314512]	ChrX:17376107 [GRCh38] ChrX:17394230 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.3157A>G (p.Lys1053Glu)	single nucleotide variant	Inborn genetic diseases [RCV002313529]	ChrX:17727263 [GRCh38] ChrX:17745383 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4043G>A (p.Arg1348His)	single nucleotide variant	Inborn genetic diseases [RCV002315307]\|Nance-Horan syndrome [RCV001521121]	ChrX:17728149 [GRCh38] ChrX:17746269 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.333GGC[7] (p.Ala117dup)	microsatellite	Inborn genetic diseases [RCV002315372]\|NHS-related disorder [RCV003907998]\|Nance-Horan syndrome [RCV002067037]\|not provided [RCV003437413]	ChrX:17376088..17376089 [GRCh38] ChrX:17394211..17394212 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.2905G>A (p.Ala969Thr)	single nucleotide variant	Inborn genetic diseases [RCV002315422]\|Nance-Horan syndrome [RCV003621566]\|not provided [RCV003437414]	ChrX:17727011 [GRCh38] ChrX:17745131 [GRCh37] ChrX:Xp22.13	benign\|likely benign\|uncertain significance
NM_001291867.2(NHS):c.1469G>T (p.Gly490Val)	single nucleotide variant	Inborn genetic diseases [RCV002317990]\|NHS-related disorder [RCV003892586]\|Nance-Horan syndrome [RCV002534579]	ChrX:17725575 [GRCh38] ChrX:17743695 [GRCh37] ChrX:Xp22.13	likely benign\|uncertain significance
NM_001291867.2(NHS):c.3785C>T (p.Thr1262Met)	single nucleotide variant	Inborn genetic diseases [RCV002315339]\|NHS-related disorder [RCV003918168]\|Nance-Horan syndrome [RCV002533020]	ChrX:17727891 [GRCh38] ChrX:17746011 [GRCh37] ChrX:Xp22.13	benign\|likely benign\|uncertain significance
NM_001291867.2(NHS):c.3057A>G (p.Ala1019=)	single nucleotide variant	Inborn genetic diseases [RCV002315473]\|NHS-related disorder [RCV004754539]\|Nance-Horan syndrome [RCV000873065]	ChrX:17727163 [GRCh38] ChrX:17745283 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.1174C>T (p.Arg392Trp)	single nucleotide variant	History of neurodevelopmental disorder [RCV000721038]\|Nance-Horan syndrome [RCV001363257]	ChrX:17724364 [GRCh38] ChrX:17742484 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4937C>T (p.Ser1646Phe)	single nucleotide variant	Inborn genetic diseases [RCV002334583]\|Nance-Horan syndrome [RCV002568891]\|not provided [RCV001531129]	ChrX:17732445 [GRCh38] ChrX:17750565 [GRCh37] ChrX:Xp22.13	benign\|likely benign\|uncertain significance
NM_001291867.2(NHS):c.4223-47C>T	single nucleotide variant	not provided [RCV001564583]	ChrX:17728602 [GRCh38] ChrX:17746722 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.2683G>A (p.Ala895Thr)	single nucleotide variant	Nance-Horan syndrome [RCV003509639]	ChrX:17726789 [GRCh38] ChrX:17744909 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.4223-99TGTT[6]	microsatellite	not provided [RCV001567829]	ChrX:17728550..17728553 [GRCh38] ChrX:17746670..17746673 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3141C>T (p.Pro1047=)	single nucleotide variant	Nance-Horan syndrome [RCV003509630]\|not provided [RCV004714157]	ChrX:17727247 [GRCh38] ChrX:17745367 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.742C>T (p.Arg248Ter)	single nucleotide variant	Nance-Horan syndrome [RCV000816102]\|not provided [RCV000760381]	ChrX:17692358 [GRCh38] ChrX:17710478 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.502C>T (p.Gln168Ter)	single nucleotide variant	Nance-Horan syndrome [RCV001044162]	ChrX:17376259 [GRCh38] ChrX:17394382 [GRCh37] ChrX:Xp22.2	pathogenic
NM_001291867.2(NHS):c.4083G>A (p.Ser1361=)	single nucleotide variant	Nance-Horan syndrome [RCV002540983]	ChrX:17728189 [GRCh38] ChrX:17746309 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.4223-9T>C	single nucleotide variant	not provided [RCV000927409]	ChrX:17728640 [GRCh38] ChrX:17746760 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.177C>A (p.Arg59=)	single nucleotide variant	not provided [RCV000928014]	ChrX:17375934 [GRCh38] ChrX:17394057 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.4168G>A (p.Asp1390Asn)	single nucleotide variant	Nance-Horan syndrome [RCV002536801]\|not specified [RCV001817055]	ChrX:17728274 [GRCh38] ChrX:17746394 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.688G>A (p.Ala230Thr)	single nucleotide variant	Nance-Horan syndrome [RCV002538954]	ChrX:17687864 [GRCh38] ChrX:17705984 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.2449G>C (p.Ala817Pro)	single nucleotide variant	not provided [RCV002280467]	ChrX:17726555 [GRCh38] ChrX:17744675 [GRCh37] ChrX:Xp22.13	uncertain significance
NC_000023.10:g.(?_17393861)_(18671684_?)dup	duplication	Developmental and epileptic encephalopathy, 2 [RCV001033299]	ChrX:17393861..18671684 [GRCh37] ChrX:Xp22.13	uncertain significance
Single allele	deletion	Neurodevelopmental disorder [RCV000787440]	ChrX:1..47140860 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
NM_001291867.2(NHS):c.2887C>T (p.Leu963=)	single nucleotide variant	Nance-Horan syndrome [RCV000919507]	ChrX:17726993 [GRCh38] ChrX:17745113 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.204A>G (p.Pro68=)	single nucleotide variant	Inborn genetic diseases [RCV002416095]\|Nance-Horan syndrome [RCV002065511]\|not provided [RCV004704267]	ChrX:17375961 [GRCh38] ChrX:17394084 [GRCh37] ChrX:Xp22.2	benign\|likely benign
NM_001291867.2(NHS):c.1281T>C (p.Ile427=)	single nucleotide variant	not provided [RCV000982688]	ChrX:17725387 [GRCh38] ChrX:17743507 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.4679C>T (p.Thr1560Ile)	single nucleotide variant	not provided [RCV000999332]	ChrX:17732187 [GRCh38] ChrX:17750307 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2709C>T (p.Asn903=)	single nucleotide variant	Nance-Horan syndrome [RCV002540112]	ChrX:17726815 [GRCh38] ChrX:17744935 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3658_3662del (p.Asn1220fs)	deletion	Nance-Horan syndrome [RCV000806284]	ChrX:17727764..17727768 [GRCh38] ChrX:17745884..17745888 [GRCh37] ChrX:Xp22.13	pathogenic
GRCh37/hg19 Xp22.13(chrX:17557444-19260546)x2	copy number gain	not provided [RCV000849199]	ChrX:17557444..19260546 [GRCh37] ChrX:Xp22.13	uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	copy number loss	See cases [RCV000790583]	ChrX:60814..50519984 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2	copy number gain	not provided [RCV000849766]	ChrX:13962918..22148232 [GRCh37] ChrX:Xp22.2-22.11	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 Xp22.2-22.11(chrX:13962918-22148232)x2	copy number gain	not provided [RCV000849768]	ChrX:13962918..22148232 [GRCh37] ChrX:Xp22.2-22.11	pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1	copy number loss	not provided [RCV001007200]	ChrX:168546..17502124 [GRCh37] ChrX:Xp22.33-22.13	pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2	copy number gain	not provided [RCV001007235]	ChrX:1240318..20986848 [GRCh37] ChrX:Xp22.33-22.12	pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2	copy number gain	not provided [RCV000846517]	ChrX:15330714..21915234 [GRCh37] ChrX:Xp22.2-22.11	pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3	copy number gain	not provided [RCV000849574]	ChrX:2190434..23795839 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
NC_000023.11:g.(?_17687722)_(17692488_?)dup	duplication	Nance-Horan syndrome [RCV001032755]	ChrX:17705842..17710608 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.364C>T (p.Leu122=)	single nucleotide variant	not provided [RCV000936228]	ChrX:17376121 [GRCh38] ChrX:17394244 [GRCh37] ChrX:Xp22.2	likely benign
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	copy number loss	not provided [RCV000846273]	ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1	pathogenic
NM_001291867.2(NHS):c.1228C>G (p.Gln410Glu)	single nucleotide variant	Cataract 40 [RCV001195970]\|Inborn genetic diseases [RCV002561043]\|NHS-related disorder [RCV003953578]\|Nance-Horan syndrome [RCV003117838]	ChrX:17724418 [GRCh38] ChrX:17742538 [GRCh37] ChrX:Xp22.13	benign\|likely benign\|uncertain significance
NM_001291867.2(NHS):c.4350-75T>C	single nucleotide variant	not provided [RCV001544987]	ChrX:17731783 [GRCh38] ChrX:17749903 [GRCh37] ChrX:Xp22.13	likely benign
NC_000023.11:g.17375188C>T	single nucleotide variant	not provided [RCV001561414]	ChrX:17375188 [GRCh38] ChrX:17393311 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.484C>T (p.Arg162Cys)	single nucleotide variant	Inborn genetic diseases [RCV003264059]\|Nance-Horan syndrome [RCV003621597]\|not provided [RCV001556023]	ChrX:17376241 [GRCh38] ChrX:17394364 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.4349+90A>G	single nucleotide variant	not provided [RCV001563048]	ChrX:17728865 [GRCh38] ChrX:17746985 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.127C>G (p.Arg43Gly)	single nucleotide variant	NHS-related disorder [RCV003405722]\|not provided [RCV001570705]	ChrX:17375884 [GRCh38] ChrX:17394007 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.566-52074G>T	single nucleotide variant	not provided [RCV001558734]	ChrX:17635668 [GRCh38] ChrX:17653788 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.1501C>T (p.Arg501Cys)	single nucleotide variant	NHS-related disorder [RCV003950714]\|Nance-Horan syndrome [RCV002540798]	ChrX:17725607 [GRCh38] ChrX:17743727 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.4076A>G (p.Tyr1359Cys)	single nucleotide variant	Inborn genetic diseases [RCV004958271]\|not provided [RCV000914540]	ChrX:17728182 [GRCh38] ChrX:17746302 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.528C>A (p.Arg176=)	single nucleotide variant	not provided [RCV000892237]	ChrX:17376285 [GRCh38] ChrX:17394408 [GRCh37] ChrX:Xp22.2	benign
NM_001291867.2(NHS):c.612C>T (p.Arg204=)	single nucleotide variant	Nance-Horan syndrome [RCV002544433]	ChrX:17687788 [GRCh38] ChrX:17705908 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.566-5T>C	single nucleotide variant	Nance-Horan syndrome [RCV005092660]\|not provided [RCV000896899]	ChrX:17687737 [GRCh38] ChrX:17705857 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.2732A>G (p.Glu911Gly)	single nucleotide variant	Inborn genetic diseases [RCV004958311]\|Nance-Horan syndrome [RCV002545912]	ChrX:17726838 [GRCh38] ChrX:17744958 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.3959T>C (p.Val1320Ala)	single nucleotide variant	Nance-Horan syndrome [RCV000954012]	ChrX:17728065 [GRCh38] ChrX:17746185 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.1764T>G (p.Ala588=)	single nucleotide variant	not provided [RCV000932933]	ChrX:17725870 [GRCh38] ChrX:17743990 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.966G>A (p.Pro322=)	single nucleotide variant	Inborn genetic diseases [RCV002372530]\|Nance-Horan syndrome [RCV000908969]\|not provided [RCV003438576]	ChrX:17721491 [GRCh38] ChrX:17739611 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.4223-99TGTT[9]	microsatellite	not provided [RCV001582062]	ChrX:17728549..17728550 [GRCh38] ChrX:17746669..17746670 [GRCh37] ChrX:Xp22.13	likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	copy number loss	not provided [RCV001007224]	ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NC_000023.11:g.17375179G>T	single nucleotide variant	not provided [RCV001576385]	ChrX:17375179 [GRCh38] ChrX:17393302 [GRCh37] ChrX:Xp22.2	likely benign
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001291867.2(NHS):c.853-20T>C	single nucleotide variant	not provided [RCV001658545]	ChrX:17719324 [GRCh38] ChrX:17737444 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.719-88del	deletion	not provided [RCV001658396]	ChrX:17692234 [GRCh38] ChrX:17710354 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.566-52382C>A	single nucleotide variant	not provided [RCV001654367]	ChrX:17635360 [GRCh38] ChrX:17653480 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.2327_2328del (p.His776fs)	deletion	Nance-Horan syndrome [RCV001071893]	ChrX:17726432..17726433 [GRCh38] ChrX:17744552..17744553 [GRCh37] ChrX:Xp22.13	pathogenic
GRCh37/hg19 Xp22.2-22.13(chrX:15415636-18339030)x1	copy number loss	not provided [RCV001007265]	ChrX:15415636..18339030 [GRCh37] ChrX:Xp22.2-22.13	uncertain significance
NM_001291867.2(NHS):c.566-52263C>G	single nucleotide variant	not provided [RCV001670191]	ChrX:17635479 [GRCh38] ChrX:17653599 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.719-89_719-88del	deletion	not provided [RCV001682129]	ChrX:17692234..17692235 [GRCh38] ChrX:17710354..17710355 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.566-177A>G	single nucleotide variant	not provided [RCV001588090]	ChrX:17687565 [GRCh38] ChrX:17705685 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.-555G>A	single nucleotide variant	not provided [RCV001682346]	ChrX:17375203 [GRCh38] ChrX:17393326 [GRCh37] ChrX:Xp22.2	benign
NM_001291867.2(NHS):c.3285del (p.His1095fs)	deletion	Nance-Horan syndrome [RCV001039059]	ChrX:17727391 [GRCh38] ChrX:17745511 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.375C>A (p.Cys125Ter)	single nucleotide variant	Nance-Horan syndrome [RCV001055102]	ChrX:17376132 [GRCh38] ChrX:17394255 [GRCh37] ChrX:Xp22.2	pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1	copy number loss	not provided [RCV001007559]	ChrX:168546..34753512 [GRCh37] ChrX:Xp22.33-21.1	pathogenic
NM_001291867.2(NHS):c.4871C>T (p.Thr1624Met)	single nucleotide variant	Inborn genetic diseases [RCV004035307]\|Intellectual disability [RCV001251845]\|Nance-Horan syndrome [RCV003509659]	ChrX:17732379 [GRCh38] ChrX:17750499 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.230C>G (p.Pro77Arg)	single nucleotide variant	Intellectual disability [RCV001251847]	ChrX:17375987 [GRCh38] ChrX:17394110 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.2351A>G (p.Tyr784Cys)	single nucleotide variant	Intellectual disability [RCV001251848]	ChrX:17726457 [GRCh38] ChrX:17744577 [GRCh37] ChrX:Xp22.13	likely benign
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 Xp22.2-22.13(chrX:16985921-17729022)x2	copy number gain	not provided [RCV001260012]	ChrX:16985921..17729022 [GRCh37] ChrX:Xp22.2-22.13	uncertain significance
NM_001291867.2(NHS):c.779C>T (p.Ala260Val)	single nucleotide variant	Nance-Horan syndrome [RCV001308263]	ChrX:17692395 [GRCh38] ChrX:17710515 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1159C>T (p.Gln387Ter)	single nucleotide variant	Nance-Horan syndrome [RCV001383317]	ChrX:17724349 [GRCh38] ChrX:17742469 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.4294T>C (p.Phe1432Leu)	single nucleotide variant	not provided [RCV001354307]	ChrX:17728720 [GRCh38] ChrX:17746840 [GRCh37] ChrX:Xp22.13	likely benign\|uncertain significance
NM_001291867.2(NHS):c.3979_3982del (p.Ser1327fs)	microsatellite	Nance-Horan syndrome [RCV001382786]	ChrX:17728081..17728084 [GRCh38] ChrX:17746201..17746204 [GRCh37] ChrX:Xp22.13	pathogenic
NC_000023.10:g.(?_17393881)_(20284750_?)dup	duplication	Coffin-Lowry syndrome [RCV003120571]\|Developmental and epileptic encephalopathy, 2 [RCV001345684]\|Glycogen storage disease IXa1 [RCV003106199]\|Nance-Horan syndrome [RCV003120573]\|not provided [RCV003120572]	ChrX:17393881..20284750 [GRCh37] ChrX:Xp22.13-22.12	uncertain significance\|no classifications from unflagged records
NM_001291867.2(NHS):c.281A>T (p.Glu94Val)	single nucleotide variant	not provided [RCV001354696]	ChrX:17376038 [GRCh38] ChrX:17394161 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.822G>A (p.Arg274=)	single nucleotide variant	Nance-Horan syndrome [RCV001328827]	ChrX:17692438 [GRCh38] ChrX:17710558 [GRCh37] ChrX:Xp22.13	conflicting interpretations of pathogenicity\|uncertain significance
NM_001291867.2(NHS):c.2119G>T (p.Ala707Ser)	single nucleotide variant	Inborn genetic diseases [RCV002421168]\|Nance-Horan syndrome [RCV001520138]	ChrX:17726225 [GRCh38] ChrX:17744345 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.2791G>T (p.Asp931Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004037942]\|NHS-related disorder [RCV003931097]\|Nance-Horan syndrome [RCV001517046]	ChrX:17726897 [GRCh38] ChrX:17745017 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.1074G>A (p.Val358=)	single nucleotide variant	Nance-Horan syndrome [RCV001403974]	ChrX:17721599 [GRCh38] ChrX:17739719 [GRCh37] ChrX:Xp22.13	likely benign\|uncertain significance
NM_001291867.2(NHS):c.4223-99TGTT[8]	microsatellite	not provided [RCV001616657]	ChrX:17728549..17728550 [GRCh38] ChrX:17746669..17746670 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.322G>A (p.Glu108Lys)	single nucleotide variant	Inborn genetic diseases [RCV002564315]\|NHS-related disorder [RCV003940907]\|Nance-Horan syndrome [RCV001513032]\|not provided [RCV002070289]	ChrX:17376079 [GRCh38] ChrX:17394202 [GRCh37] ChrX:Xp22.2	benign\|likely benign\|uncertain significance
NM_001291867.2(NHS):c.1919C>T (p.Thr640Met)	single nucleotide variant	Nance-Horan syndrome [RCV001513396]	ChrX:17726025 [GRCh38] ChrX:17744145 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.3512C>A (p.Thr1171Lys)	single nucleotide variant	not provided [RCV002284937]	ChrX:17727618 [GRCh38] ChrX:17745738 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1237del (p.Glu412_Ile413insTer)	deletion	not provided [RCV001784747]	ChrX:17724425 [GRCh38] ChrX:17742545 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.4763T>C (p.Phe1588Ser)	single nucleotide variant	not provided [RCV001765315]	ChrX:17732271 [GRCh38] ChrX:17750391 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2506G>C (p.Gly836Arg)	single nucleotide variant	not provided [RCV001773898]	ChrX:17726612 [GRCh38] ChrX:17744732 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4646C>G (p.Pro1549Arg)	single nucleotide variant	not provided [RCV001772442]	ChrX:17732154 [GRCh38] ChrX:17750274 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3316C>T (p.His1106Tyr)	single nucleotide variant	not provided [RCV001765658]	ChrX:17727422 [GRCh38] ChrX:17745542 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3730T>C (p.Ser1244Pro)	single nucleotide variant	not provided [RCV001765766]	ChrX:17727836 [GRCh38] ChrX:17745956 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.181G>A (p.Val61Ile)	single nucleotide variant	not provided [RCV001773818]	ChrX:17375938 [GRCh38] ChrX:17394061 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.791C>T (p.Pro264Leu)	single nucleotide variant	not provided [RCV001768842]	ChrX:17692407 [GRCh38] ChrX:17710527 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1336G>C (p.Asp446His)	single nucleotide variant	not provided [RCV001770841]	ChrX:17725442 [GRCh38] ChrX:17743562 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1992C>G (p.Asp664Glu)	single nucleotide variant	not provided [RCV001758047]	ChrX:17726098 [GRCh38] ChrX:17744218 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3167T>A (p.Val1056Asp)	single nucleotide variant	not provided [RCV001761299]	ChrX:17727273 [GRCh38] ChrX:17745393 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1415T>C (p.Ile472Thr)	single nucleotide variant	Inborn genetic diseases [RCV002542008]\|not specified [RCV001817603]	ChrX:17725521 [GRCh38] ChrX:17743641 [GRCh37] ChrX:Xp22.13	uncertain significance
GRCh37/hg19 Xp22.13(chrX:17668096-18275579)x2	copy number gain	not provided [RCV001836499]	ChrX:17668096..18275579 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3131C>T (p.Pro1044Leu)	single nucleotide variant	Nance-Horan syndrome [RCV001839310]	ChrX:17727237 [GRCh38] ChrX:17745357 [GRCh37] ChrX:Xp22.13	uncertain significance
GRCh37/hg19 Xp22.13(chrX:17692786-18107640)	copy number gain	not specified [RCV002052784]	ChrX:17692786..18107640 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4882G>A (p.Ala1628Thr)	single nucleotide variant	Nance-Horan syndrome [RCV001892829]	ChrX:17732390 [GRCh38] ChrX:17750510 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.691C>T (p.Arg231Trp)	single nucleotide variant	Nance-Horan syndrome [RCV003509703]\|not provided [RCV001843633]\|not specified [RCV003317534]	ChrX:17687867 [GRCh38] ChrX:17705987 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1160A>G (p.Gln387Arg)	single nucleotide variant	Nance-Horan syndrome [RCV001940056]	ChrX:17724350 [GRCh38] ChrX:17742470 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.766dup (p.Leu256fs)	duplication	Nance-Horan syndrome [RCV002000011]	ChrX:17692376..17692377 [GRCh38] ChrX:17710496..17710497 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.916-2A>T	single nucleotide variant	Nance-Horan syndrome [RCV001934740]	ChrX:17721439 [GRCh38] ChrX:17739559 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.50_53del (p.Arg17fs)	deletion	Nance-Horan syndrome [RCV001992845]	ChrX:17375807..17375810 [GRCh38] ChrX:17393930..17393933 [GRCh37] ChrX:Xp22.2	pathogenic
NM_001291867.2(NHS):c.692G>A (p.Arg231Gln)	single nucleotide variant	Inborn genetic diseases [RCV002556412]\|Nance-Horan syndrome [RCV001920981]	ChrX:17687868 [GRCh38] ChrX:17705988 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3479C>T (p.Thr1160Ile)	single nucleotide variant	Nance-Horan syndrome [RCV001997423]	ChrX:17727585 [GRCh38] ChrX:17745705 [GRCh37] ChrX:Xp22.13	uncertain significance
NC_000023.10:g.(?_17710435)_(17750584_?)del	deletion	Nance-Horan syndrome [RCV001951441]	ChrX:17710435..17750584 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.4315C>T (p.Arg1439Ter)	single nucleotide variant	Nance-Horan syndrome [RCV001975049]	ChrX:17728741 [GRCh38] ChrX:17746861 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.258A>G (p.Gly86=)	single nucleotide variant	Nance-Horan syndrome [RCV002077695]	ChrX:17376015 [GRCh38] ChrX:17394138 [GRCh37] ChrX:Xp22.2	benign
NM_001291867.2(NHS):c.339G>T (p.Ala113=)	single nucleotide variant	Nance-Horan syndrome [RCV002215728]	ChrX:17376096 [GRCh38] ChrX:17394219 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.4196G>A (p.Gly1399Glu)	single nucleotide variant	not provided [RCV002214512]	ChrX:17728302 [GRCh38] ChrX:17746422 [GRCh37] ChrX:Xp22.13	uncertain significance
NC_000023.10:g.(?_17705842)_(17710608_?)del	deletion	Nance-Horan syndrome [RCV003113976]	ChrX:17705842..17710608 [GRCh37] ChrX:Xp22.13	pathogenic
NC_000023.10:g.(?_17393881)_(17710608_?)dup	duplication	Nance-Horan syndrome [RCV003113977]	ChrX:17393881..17710608 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2596G>A (p.Asp866Asn)	single nucleotide variant	See cases [RCV002252846]	ChrX:17726702 [GRCh38] ChrX:17744822 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1748G>A (p.Arg583His)	single nucleotide variant	Inborn genetic diseases [RCV003095977]\|NHS-related disorder [RCV004754871]\|Nance-Horan syndrome [RCV003621619]\|not provided [RCV002263535]	ChrX:17725854 [GRCh38] ChrX:17743974 [GRCh37] ChrX:Xp22.13	benign\|likely benign
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	copy number loss	Turner syndrome [RCV002280669]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
NM_001291867.2(NHS):c.4428T>G (p.Ser1476Arg)	single nucleotide variant	not provided [RCV002269606]	ChrX:17731936 [GRCh38] ChrX:17750056 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3687C>T (p.Cys1229=)	single nucleotide variant	Inborn genetic diseases [RCV002452322]\|Nance-Horan syndrome [RCV003094267]	ChrX:17727793 [GRCh38] ChrX:17745913 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.4492A>G (p.Arg1498Gly)	single nucleotide variant	not provided [RCV002269657]	ChrX:17732000 [GRCh38] ChrX:17750120 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1895G>C (p.Gly632Ala)	single nucleotide variant	Nance-Horan syndrome [RCV002297018]	ChrX:17726001 [GRCh38] ChrX:17744121 [GRCh37] ChrX:Xp22.13	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001291867.2(NHS):c.2188C>T (p.His730Tyr)	single nucleotide variant	Nance-Horan syndrome [RCV002297068]	ChrX:17726294 [GRCh38] ChrX:17744414 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.302A>C (p.Glu101Ala)	single nucleotide variant	Inborn genetic diseases [RCV002435967]\|Nance-Horan syndrome [RCV003102986]	ChrX:17376059 [GRCh38] ChrX:17394182 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.1089T>C (p.Ile363=)	single nucleotide variant	Inborn genetic diseases [RCV002385512]\|NHS-related disorder [RCV003971277]\|Nance-Horan syndrome [RCV003094957]\|not provided [RCV003883819]	ChrX:17721614 [GRCh38] ChrX:17739734 [GRCh37] ChrX:Xp22.13	benign\|likely benign
GRCh37/hg19 Xp22.13(chrX:17751088-18863732)x3	copy number gain	not provided [RCV002474793]	ChrX:17751088..18863732 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4194A>G (p.Gln1398=)	single nucleotide variant	Inborn genetic diseases [RCV002333068]	ChrX:17728300 [GRCh38] ChrX:17746420 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3280C>T (p.Leu1094Phe)	single nucleotide variant	Inborn genetic diseases [RCV002324648]	ChrX:17727386 [GRCh38] ChrX:17745506 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2409C>T (p.His803=)	single nucleotide variant	Inborn genetic diseases [RCV002448331]\|Nance-Horan syndrome [RCV005058779]	ChrX:17726515 [GRCh38] ChrX:17744635 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.189A>G (p.Ala63=)	single nucleotide variant	Inborn genetic diseases [RCV002408182]	ChrX:17375946 [GRCh38] ChrX:17394069 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.611G>A (p.Arg204His)	single nucleotide variant	Inborn genetic diseases [RCV002360272]\|Nance-Horan syndrome [RCV003621636]	ChrX:17687787 [GRCh38] ChrX:17705907 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2592C>T (p.Asn864=)	single nucleotide variant	Inborn genetic diseases [RCV002433108]\|Nance-Horan syndrome [RCV003621661]	ChrX:17726698 [GRCh38] ChrX:17744818 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.90C>A (p.Gly30=)	single nucleotide variant	Inborn genetic diseases [RCV002450010]	ChrX:17375847 [GRCh38] ChrX:17393970 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.1806G>A (p.Thr602=)	single nucleotide variant	Inborn genetic diseases [RCV002401442]\|NHS-related disorder [RCV003961033]\|Nance-Horan syndrome [RCV003509753]	ChrX:17725912 [GRCh38] ChrX:17744032 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.100C>A (p.Pro34Thr)	single nucleotide variant	Inborn genetic diseases [RCV002441337]\|Nance-Horan syndrome [RCV003102213]	ChrX:17375857 [GRCh38] ChrX:17393980 [GRCh37] ChrX:Xp22.2	likely benign\|uncertain significance
NM_001291867.2(NHS):c.388G>A (p.Ala130Thr)	single nucleotide variant	Inborn genetic diseases [RCV002357397]\|not provided [RCV005242224]	ChrX:17376145 [GRCh38] ChrX:17394268 [GRCh37] ChrX:Xp22.2	likely benign\|uncertain significance
NM_001291867.2(NHS):c.423C>G (p.Asp141Glu)	single nucleotide variant	Inborn genetic diseases [RCV002328178]	ChrX:17376180 [GRCh38] ChrX:17394303 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.1648A>G (p.Ser550Gly)	single nucleotide variant	Inborn genetic diseases [RCV002398303]	ChrX:17725754 [GRCh38] ChrX:17743874 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3375G>A (p.Ser1125=)	single nucleotide variant	Inborn genetic diseases [RCV002326330]\|Nance-Horan syndrome [RCV003099389]	ChrX:17727481 [GRCh38] ChrX:17745601 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.519C>T (p.Gly173=)	single nucleotide variant	Inborn genetic diseases [RCV002338566]\|Nance-Horan syndrome [RCV005058414]	ChrX:17376276 [GRCh38] ChrX:17394399 [GRCh37] ChrX:Xp22.2	likely benign\|uncertain significance
NM_001291867.2(NHS):c.2547G>C (p.Pro849=)	single nucleotide variant	Inborn genetic diseases [RCV002430834]	ChrX:17726653 [GRCh38] ChrX:17744773 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3802G>A (p.Ala1268Thr)	single nucleotide variant	Inborn genetic diseases [RCV002363775]	ChrX:17727908 [GRCh38] ChrX:17746028 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4350-5C>G	single nucleotide variant	Inborn genetic diseases [RCV002330161]	ChrX:17731853 [GRCh38] ChrX:17749973 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.333GGC[8] (p.Ala117_Val118insAlaAla)	microsatellite	Inborn genetic diseases [RCV002460209]\|Nance-Horan syndrome [RCV003099493]	ChrX:17376088..17376089 [GRCh38] ChrX:17394211..17394212 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.1071A>G (p.Gln357=)	single nucleotide variant	not provided [RCV002308842]	ChrX:17721596 [GRCh38] ChrX:17739716 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.965C>T (p.Pro322Leu)	single nucleotide variant	Inborn genetic diseases [RCV002376453]\|Nance-Horan syndrome [RCV003100082]	ChrX:17721490 [GRCh38] ChrX:17739610 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.917C>T (p.Ser306Phe)	single nucleotide variant	Inborn genetic diseases [RCV002414464]	ChrX:17721442 [GRCh38] ChrX:17739562 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.63C>A (p.Pro21=)	single nucleotide variant	Inborn genetic diseases [RCV002361555]	ChrX:17375820 [GRCh38] ChrX:17393943 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.4040G>A (p.Ser1347Asn)	single nucleotide variant	Inborn genetic diseases [RCV002375520]	ChrX:17728146 [GRCh38] ChrX:17746266 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3387G>A (p.Pro1129=)	single nucleotide variant	Nance-Horan syndrome [RCV002614038]	ChrX:17727493 [GRCh38] ChrX:17745613 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.1190GGA[2] (p.Arg399del)	microsatellite	Nance-Horan syndrome [RCV002971957]	ChrX:17724378..17724380 [GRCh38] ChrX:17742498..17742500 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.4064G>A (p.Gly1355Asp)	single nucleotide variant	Inborn genetic diseases [RCV002752997]	ChrX:17728170 [GRCh38] ChrX:17746290 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1035C>T (p.Leu345=)	single nucleotide variant	Nance-Horan syndrome [RCV002755267]	ChrX:17721560 [GRCh38] ChrX:17739680 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3397A>G (p.Ile1133Val)	single nucleotide variant	Nance-Horan syndrome [RCV003075589]	ChrX:17727503 [GRCh38] ChrX:17745623 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1928C>T (p.Ser643Leu)	single nucleotide variant	Nance-Horan syndrome [RCV003034299]\|not provided [RCV005235678]	ChrX:17726034 [GRCh38] ChrX:17744154 [GRCh37] ChrX:Xp22.13	likely benign\|uncertain significance
NM_001291867.2(NHS):c.824G>A (p.Arg275His)	single nucleotide variant	Nance-Horan syndrome [RCV003074544]	ChrX:17692440 [GRCh38] ChrX:17710560 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2820C>T (p.Ala940=)	single nucleotide variant	Nance-Horan syndrome [RCV003098966]	ChrX:17726926 [GRCh38] ChrX:17745046 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.1471G>A (p.Asp491Asn)	single nucleotide variant	Inborn genetic diseases [RCV003250565]\|Nance-Horan syndrome [RCV002690382]\|not provided [RCV003458153]	ChrX:17725577 [GRCh38] ChrX:17743697 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.1040C>T (p.Thr347Met)	single nucleotide variant	Inborn genetic diseases [RCV002841216]\|Nance-Horan syndrome [RCV005099732]	ChrX:17721565 [GRCh38] ChrX:17739685 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1150G>A (p.Val384Ile)	single nucleotide variant	Nance-Horan syndrome [RCV002838749]	ChrX:17724340 [GRCh38] ChrX:17742460 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.310_342del (p.Pro104_Ala114del)	deletion	Nance-Horan syndrome [RCV002972656]	ChrX:17376060..17376092 [GRCh38] ChrX:17394183..17394215 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.2225G>A (p.Arg742His)	single nucleotide variant	Inborn genetic diseases [RCV002904368]\|Nance-Horan syndrome [RCV002904367]	ChrX:17726331 [GRCh38] ChrX:17744451 [GRCh37] ChrX:Xp22.13	benign\|uncertain significance
NM_001291867.2(NHS):c.106C>T (p.Pro36Ser)	single nucleotide variant	Nance-Horan syndrome [RCV002904354]	ChrX:17375863 [GRCh38] ChrX:17393986 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.2720C>T (p.Pro907Leu)	single nucleotide variant	Nance-Horan syndrome [RCV002907934]	ChrX:17726826 [GRCh38] ChrX:17744946 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.4676G>C (p.Ser1559Thr)	single nucleotide variant	Nance-Horan syndrome [RCV002616332]	ChrX:17732184 [GRCh38] ChrX:17750304 [GRCh37] ChrX:Xp22.13	benign\|uncertain significance
NM_001291867.2(NHS):c.1486C>A (p.Pro496Thr)	single nucleotide variant	Inborn genetic diseases [RCV002633930]\|Nance-Horan syndrome [RCV002640532]	ChrX:17725592 [GRCh38] ChrX:17743712 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.1691C>T (p.Ala564Val)	single nucleotide variant	Inborn genetic diseases [RCV002707909]\|Nance-Horan syndrome [RCV003509766]	ChrX:17725797 [GRCh38] ChrX:17743917 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4380T>C (p.Asp1460=)	single nucleotide variant	Nance-Horan syndrome [RCV002847684]	ChrX:17731888 [GRCh38] ChrX:17750008 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.305C>T (p.Ala102Val)	single nucleotide variant	Inborn genetic diseases [RCV002886974]	ChrX:17376062 [GRCh38] ChrX:17394185 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.353T>C (p.Val118Ala)	single nucleotide variant	Inborn genetic diseases [RCV002797759]	ChrX:17376110 [GRCh38] ChrX:17394233 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.4513C>T (p.Arg1505Ter)	single nucleotide variant	Nance-Horan syndrome [RCV002867557]	ChrX:17732021 [GRCh38] ChrX:17750141 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.*3008T>A	single nucleotide variant	Nance-Horan syndrome [RCV003080725]	ChrX:17735472 [GRCh38] ChrX:17753592 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.2910G>A (p.Thr970=)	single nucleotide variant	Nance-Horan syndrome [RCV002927187]	ChrX:17727016 [GRCh38] ChrX:17745136 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.2242C>A (p.Leu748Met)	single nucleotide variant	not provided [RCV002510004]	ChrX:17726348 [GRCh38] ChrX:17744468 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4540A>G (p.Asn1514Asp)	single nucleotide variant	Nance-Horan syndrome [RCV002659084]	ChrX:17732048 [GRCh38] ChrX:17750168 [GRCh37] ChrX:Xp22.13	uncertain significance
GRCh37/hg19 Xp22.13(chrX:17557444-18142296)x3	copy number gain	not provided [RCV000684283]	ChrX:17557444..18142296 [GRCh37] ChrX:Xp22.13	uncertain significance
GRCh37/hg19 Xp22.2-22.13(chrX:16969302-17731092)x3	copy number gain	not provided [RCV000684281]	ChrX:16969302..17731092 [GRCh37] ChrX:Xp22.2-22.13	uncertain significance
GRCh37/hg19 Xp22.13(chrX:17134123-17653170)x2	copy number gain	not provided [RCV000684282]	ChrX:17134123..17653170 [GRCh37] ChrX:Xp22.13	uncertain significance
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1	copy number loss	not provided [RCV000684184]	ChrX:168546..43248706 [GRCh37] ChrX:Xp22.33-11.3	pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1	copy number loss	not provided [RCV000684185]	ChrX:168546..46908284 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	copy number gain	not provided [RCV000684261]	ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31	pathogenic
NC_000023.10:g.(?_17393861)_(17753592_?)del	deletion	Nance-Horan syndrome [RCV000708273]	ChrX:17393861..17753592 [GRCh37] ChrX:Xp22.13	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 Xp22.13(chrX:17637004-17638015)x0	copy number loss	not provided [RCV000753396]	ChrX:17637004..17638015 [GRCh37] ChrX:Xp22.13	benign
GRCh37/hg19 Xp22.13(chrX:17637495-17637911)x1	copy number loss	not provided [RCV000753397]	ChrX:17637495..17637911 [GRCh37] ChrX:Xp22.13	benign
GRCh37/hg19 Xp22.13(chrX:17637495-17638015)x0	copy number loss	not provided [RCV000753398]	ChrX:17637495..17638015 [GRCh37] ChrX:Xp22.13	benign
GRCh37/hg19 Xp22.13(chrX:17637495-17644943)x0	copy number loss	not provided [RCV000753399]	ChrX:17637495..17644943 [GRCh37] ChrX:Xp22.13	benign
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1	copy number loss	not provided [RCV000753273]	ChrX:60814..48317386 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1	copy number loss	not provided [RCV000753271]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28	pathogenic
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
Single allele	duplication	Autism [RCV000754363]	ChrX:10000..22474705 [GRCh38] ChrX:Xp22.33-22.11	likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001291867.2(NHS):c.719-1G>A	single nucleotide variant	Nance-Horan syndrome [RCV000990474]	ChrX:17692334 [GRCh38] ChrX:17710454 [GRCh37] ChrX:Xp22.13	likely pathogenic
NM_001291867.2(NHS):c.853-299GGAA[2]	microsatellite	not provided [RCV001569740]	ChrX:17719045..17719048 [GRCh38] ChrX:17737165..17737168 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.4151C>G (p.Ser1384Ter)	single nucleotide variant	not provided [RCV001090788]	ChrX:17728257 [GRCh38] ChrX:17746377 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.1656G>A (p.Pro552=)	single nucleotide variant	Nance-Horan syndrome [RCV005092906]	ChrX:17725762 [GRCh38] ChrX:17743882 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.4436G>A (p.Ser1479Asn)	single nucleotide variant	Inborn genetic diseases [RCV003169221]\|NHS-related disorder [RCV003948321]\|Nance-Horan syndrome [RCV000882247]\|not provided [RCV003438551]	ChrX:17731944 [GRCh38] ChrX:17750064 [GRCh37] ChrX:Xp22.13	benign\|likely benign
GRCh37/hg19 Xp22.2-22.12(chrX:16194993-20640014)x2	copy number gain	not provided [RCV001007268]	ChrX:16194993..20640014 [GRCh37] ChrX:Xp22.2-22.12	pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392)	copy number gain	not provided [RCV000767802]	ChrX:801301..23768392 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1	copy number loss	not provided [RCV000845671]	ChrX:168546..38054739 [GRCh37] ChrX:Xp22.33-11.4	pathogenic
NM_001291867.2(NHS):c.1929G>A (p.Ser643=)	single nucleotide variant	Nance-Horan syndrome [RCV003509637]	ChrX:17726035 [GRCh38] ChrX:17744155 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.2125C>T (p.Leu709=)	single nucleotide variant	not provided [RCV000930037]	ChrX:17726231 [GRCh38] ChrX:17744351 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.4749T>G (p.Val1583=)	single nucleotide variant	not provided [RCV001531128]	ChrX:17732257 [GRCh38] ChrX:17750377 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.4297G>A (p.Val1433Met)	single nucleotide variant	not provided [RCV001090789]	ChrX:17728723 [GRCh38] ChrX:17746843 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1105dup (p.Thr369fs)	duplication	Nance-Horan syndrome [RCV001243972]	ChrX:17721629..17721630 [GRCh38] ChrX:17739749..17739750 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.3274_3276dup (p.Ser1092_Ala1093insSer)	duplication	Nance-Horan syndrome [RCV003775484]\|not provided [RCV002464685]	ChrX:17727379..17727380 [GRCh38] ChrX:17745499..17745500 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2060A>G (p.Tyr687Cys)	single nucleotide variant	not provided [RCV004810216]	ChrX:17726166 [GRCh38] ChrX:17744286 [GRCh37] ChrX:Xp22.13	likely 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
NM_001291867.2(NHS):c.853-207AAGG[3]	microsatellite	not provided [RCV001686322]	ChrX:17719136..17719137 [GRCh38] ChrX:17737256..17737257 [GRCh37] ChrX:Xp22.13	benign
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1	copy number loss	not provided [RCV001007223]	ChrX:537158..22883547 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
GRCh37/hg19 Xp22.13(chrX:17330582-17523604)x2	copy number gain	not provided [RCV001259456]	ChrX:17330582..17523604 [GRCh37] ChrX:Xp22.13	uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	copy number loss	Turner syndrome [RCV002280671]	ChrX:168546..57841304 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	copy number loss	See cases [RCV001263061]	ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	copy number loss	not provided [RCV001281358]	ChrX:168546..56457794 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_001291867.2(NHS):c.546C>G (p.Asp182Glu)	single nucleotide variant	Cataract 40 [RCV001332000]\|Inborn genetic diseases [RCV002350613]	ChrX:17376303 [GRCh38] ChrX:17394426 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.2663T>C (p.Met888Thr)	single nucleotide variant	Nance-Horan syndrome [RCV002568873]\|not provided [RCV001529271]	ChrX:17726769 [GRCh38] ChrX:17744889 [GRCh37] ChrX:Xp22.13	benign\|likely benign\|uncertain significance
NM_001291867.2(NHS):c.452A>G (p.Gln151Arg)	single nucleotide variant	not provided [RCV001727504]	ChrX:17376209 [GRCh38] ChrX:17394332 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.546C>A (p.Asp182Glu)	single nucleotide variant	Inborn genetic diseases [RCV003295263]	ChrX:17376303 [GRCh38] ChrX:17394426 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.964C>G (p.Pro322Ala)	single nucleotide variant	not provided [RCV001732945]	ChrX:17721489 [GRCh38] ChrX:17739609 [GRCh37] ChrX:Xp22.13	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV001834509]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001291867.2(NHS):c.309_350del (p.Pro104_Ala117del)	deletion	Nance-Horan syndrome [RCV001908054]	ChrX:17376060..17376101 [GRCh38] ChrX:17394183..17394224 [GRCh37] ChrX:Xp22.2	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
NC_000023.10:g.(?_17393881)_(18525300_?)del	deletion	Developmental and epileptic encephalopathy, 2 [RCV003113221]	ChrX:17393881..18525300 [GRCh37] ChrX:Xp22.13	pathogenic
NC_000023.10:g.(?_17393881)_(18665472_?)dup	duplication	Developmental and epileptic encephalopathy, 2 [RCV003113224]	ChrX:17393881..18665472 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1647A>G (p.Pro549=)	single nucleotide variant	Nance-Horan syndrome [RCV003112217]	ChrX:17725753 [GRCh38] ChrX:17743873 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.719-1G>T	single nucleotide variant	Nance-Horan syndrome [RCV004795781]	ChrX:17692334 [GRCh38] ChrX:17710454 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.743G>A (p.Arg248Gln)	single nucleotide variant	Nance-Horan syndrome [RCV005095864]\|See cases [RCV002252632]	ChrX:17692359 [GRCh38] ChrX:17710479 [GRCh37] ChrX:Xp22.13	benign\|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
NM_001291867.2(NHS):c.3659dup (p.Asn1220fs)	duplication	Nance-Horan syndrome [RCV002290327]	ChrX:17727758..17727759 [GRCh38] ChrX:17745878..17745879 [GRCh37] ChrX:Xp22.13	pathogenic\|likely pathogenic
NM_001291867.2(NHS):c.566-100130A>C	single nucleotide variant	Nance-Horan syndrome [RCV002266585]	ChrX:17587612 [GRCh38] ChrX:17605733 [GRCh37] ChrX:Xp22.13	uncertain significance
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	copy number loss	See cases [RCV002286357]	ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28	pathogenic
Single allele	complex	Turner syndrome [RCV002280670]	ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_001291867.2(NHS):c.3937del (p.Glu1313fs)	deletion	Nance-Horan syndrome [RCV002289389]	ChrX:17728042 [GRCh38] ChrX:17746162 [GRCh37] ChrX:Xp22.13	likely pathogenic
GRCh37/hg19 Xp22.2-22.13(chrX:16985922-17729022)x3	copy number gain	not provided [RCV002474617]	ChrX:16985922..17729022 [GRCh37] ChrX:Xp22.2-22.13	uncertain significance
NM_001291867.2(NHS):c.1386G>A (p.Arg462=)	single nucleotide variant	Nance-Horan syndrome [RCV002971488]	ChrX:17725492 [GRCh38] ChrX:17743612 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.3828G>C (p.Arg1276Ser)	single nucleotide variant	Inborn genetic diseases [RCV002694395]\|Nance-Horan syndrome [RCV003621678]	ChrX:17727934 [GRCh38] ChrX:17746054 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.517G>A (p.Gly173Ser)	single nucleotide variant	Nance-Horan syndrome [RCV002795959]	ChrX:17376274 [GRCh38] ChrX:17394397 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.4073G>C (p.Ser1358Thr)	single nucleotide variant	Inborn genetic diseases [RCV002888175]\|Nance-Horan syndrome [RCV005099822]	ChrX:17728179 [GRCh38] ChrX:17746299 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.754G>A (p.Ala252Thr)	single nucleotide variant	Inborn genetic diseases [RCV002762007]	ChrX:17692370 [GRCh38] ChrX:17710490 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.120G>T (p.Pro40=)	single nucleotide variant	Nance-Horan syndrome [RCV002796596]	ChrX:17375877 [GRCh38] ChrX:17394000 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.3313C>T (p.Arg1105Cys)	single nucleotide variant	Nance-Horan syndrome [RCV002949581]	ChrX:17727419 [GRCh38] ChrX:17745539 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.190C>T (p.Pro64Ser)	single nucleotide variant	Nance-Horan syndrome [RCV002959053]	ChrX:17375947 [GRCh38] ChrX:17394070 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.1835C>T (p.Thr612Met)	single nucleotide variant	Inborn genetic diseases [RCV003162097]\|Nance-Horan syndrome [RCV002664067]	ChrX:17725941 [GRCh38] ChrX:17744061 [GRCh37] ChrX:Xp22.13	likely benign\|uncertain significance
NM_001291867.2(NHS):c.3408G>C (p.Thr1136=)	single nucleotide variant	Nance-Horan syndrome [RCV003085854]	ChrX:17727514 [GRCh38] ChrX:17745634 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.1710C>T (p.His570=)	single nucleotide variant	Nance-Horan syndrome [RCV002765363]	ChrX:17725816 [GRCh38] ChrX:17743936 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.667G>A (p.Val223Met)	single nucleotide variant	Nance-Horan syndrome [RCV002918008]	ChrX:17687843 [GRCh38] ChrX:17705963 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.1997A>G (p.Glu666Gly)	single nucleotide variant	Nance-Horan syndrome [RCV002828391]	ChrX:17726103 [GRCh38] ChrX:17744223 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4263T>C (p.Ser1421=)	single nucleotide variant	Nance-Horan syndrome [RCV002890991]	ChrX:17728689 [GRCh38] ChrX:17746809 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.183C>T (p.Val61=)	single nucleotide variant	Nance-Horan syndrome [RCV002876556]	ChrX:17375940 [GRCh38] ChrX:17394063 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.466G>C (p.Asp156His)	single nucleotide variant	Inborn genetic diseases [RCV002916566]	ChrX:17376223 [GRCh38] ChrX:17394346 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.447C>G (p.Leu149=)	single nucleotide variant	Nance-Horan syndrome [RCV002745327]	ChrX:17376204 [GRCh38] ChrX:17394327 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.4030T>C (p.Phe1344Leu)	single nucleotide variant	Nance-Horan syndrome [RCV002890602]	ChrX:17728136 [GRCh38] ChrX:17746256 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.1122C>T (p.Asp374=)	single nucleotide variant	Nance-Horan syndrome [RCV002851614]	ChrX:17724312 [GRCh38] ChrX:17742432 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3933G>C (p.Leu1311=)	single nucleotide variant	Nance-Horan syndrome [RCV003056079]	ChrX:17728039 [GRCh38] ChrX:17746159 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3351C>T (p.Asn1117=)	single nucleotide variant	Nance-Horan syndrome [RCV002918536]	ChrX:17727457 [GRCh38] ChrX:17745577 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.842A>G (p.His281Arg)	single nucleotide variant	Inborn genetic diseases [RCV002802823]	ChrX:17692458 [GRCh38] ChrX:17710578 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3829G>A (p.Val1277Ile)	single nucleotide variant	Inborn genetic diseases [RCV002712483]	ChrX:17727935 [GRCh38] ChrX:17746055 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2027A>G (p.Asn676Ser)	single nucleotide variant	not provided [RCV002508429]	ChrX:17726133 [GRCh38] ChrX:17744253 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3215C>T (p.Thr1072Ile)	single nucleotide variant	NHS-related disorder [RCV003961089]\|Nance-Horan syndrome [RCV002625867]	ChrX:17727321 [GRCh38] ChrX:17745441 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.1131T>A (p.Ala377=)	single nucleotide variant	Nance-Horan syndrome [RCV002580857]	ChrX:17724321 [GRCh38] ChrX:17742441 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.1120G>A (p.Asp374Asn)	single nucleotide variant	Nance-Horan syndrome [RCV002651330]	ChrX:17724310 [GRCh38] ChrX:17742430 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3689A>G (p.Asp1230Gly)	single nucleotide variant	Inborn genetic diseases [RCV002632923]\|Nance-Horan syndrome [RCV002632922]	ChrX:17727795 [GRCh38] ChrX:17745915 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4128G>C (p.Gln1376His)	single nucleotide variant	Inborn genetic diseases [RCV002669594]\|Nance-Horan syndrome [RCV003509765]	ChrX:17728234 [GRCh38] ChrX:17746354 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.2932A>G (p.Ile978Val)	single nucleotide variant	Inborn genetic diseases [RCV004642067]\|NHS-related disorder [RCV004754902]\|Nance-Horan syndrome [RCV002922080]	ChrX:17727038 [GRCh38] ChrX:17745158 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.309G>T (p.Ala103=)	single nucleotide variant	Nance-Horan syndrome [RCV002900427]	ChrX:17376066 [GRCh38] ChrX:17394189 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.2141ACA[1] (p.Asn715del)	microsatellite	Nance-Horan syndrome [RCV003089288]	ChrX:17726245..17726247 [GRCh38] ChrX:17744365..17744367 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.94G>C (p.Ala32Pro)	single nucleotide variant	Inborn genetic diseases [RCV002879054]	ChrX:17375851 [GRCh38] ChrX:17393974 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.4186G>A (p.Glu1396Lys)	single nucleotide variant	Nance-Horan syndrome [RCV002597616]	ChrX:17728292 [GRCh38] ChrX:17746412 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3385C>G (p.Pro1129Ala)	single nucleotide variant	Inborn genetic diseases [RCV004070695]\|Nance-Horan syndrome [RCV002647420]	ChrX:17727491 [GRCh38] ChrX:17745611 [GRCh37] ChrX:Xp22.13	likely benign\|uncertain significance
NM_001291867.2(NHS):c.1630G>T (p.Asp544Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002669777]	ChrX:17725736 [GRCh38] ChrX:17743856 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3628A>G (p.Met1210Val)	single nucleotide variant	Nance-Horan syndrome [RCV002938489]	ChrX:17727734 [GRCh38] ChrX:17745854 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.613G>A (p.Ala205Thr)	single nucleotide variant	Nance-Horan syndrome [RCV003064671]	ChrX:17687789 [GRCh38] ChrX:17705909 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4929C>T (p.Asp1643=)	single nucleotide variant	Nance-Horan syndrome [RCV002650749]	ChrX:17732437 [GRCh38] ChrX:17750557 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.1084del (p.Cys362fs)	deletion	Nance-Horan syndrome [RCV002810146]	ChrX:17721608 [GRCh38] ChrX:17739728 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.4780G>A (p.Ala1594Thr)	single nucleotide variant	Nance-Horan syndrome [RCV003088353]	ChrX:17732288 [GRCh38] ChrX:17750408 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.565+17T>C	single nucleotide variant	Nance-Horan syndrome [RCV002720955]	ChrX:17376339 [GRCh38] ChrX:17394462 [GRCh37] ChrX:Xp22.2	benign
NM_001291867.2(NHS):c.2261C>T (p.Thr754Ile)	single nucleotide variant	Nance-Horan syndrome [RCV002631939]	ChrX:17726367 [GRCh38] ChrX:17744487 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.4824T>C (p.Pro1608=)	single nucleotide variant	Nance-Horan syndrome [RCV002578076]	ChrX:17732332 [GRCh38] ChrX:17750452 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.1796A>G (p.Asn599Ser)	single nucleotide variant	Nance-Horan syndrome [RCV002962000]	ChrX:17725902 [GRCh38] ChrX:17744022 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.597G>C (p.Leu199=)	single nucleotide variant	Nance-Horan syndrome [RCV003090173]	ChrX:17687773 [GRCh38] ChrX:17705893 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.1793C>T (p.Ser598Phe)	single nucleotide variant	Nance-Horan syndrome [RCV003090174]	ChrX:17725899 [GRCh38] ChrX:17744019 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3021del (p.Phe1007fs)	deletion	Nance-Horan syndrome [RCV002807132]	ChrX:17727125 [GRCh38] ChrX:17745245 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.2806A>G (p.Lys936Glu)	single nucleotide variant	Nance-Horan syndrome [RCV003048537]	ChrX:17726912 [GRCh38] ChrX:17745032 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.206C>G (p.Pro69Arg)	single nucleotide variant	Nance-Horan syndrome [RCV003065550]	ChrX:17375963 [GRCh38] ChrX:17394086 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.1566C>T (p.Gly522=)	single nucleotide variant	Nance-Horan syndrome [RCV002629308]	ChrX:17725672 [GRCh38] ChrX:17743792 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.1208C>T (p.Ser403Leu)	single nucleotide variant	Nance-Horan syndrome [RCV002725432]	ChrX:17724398 [GRCh38] ChrX:17742518 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1843G>A (p.Val615Ile)	single nucleotide variant	Nance-Horan syndrome [RCV003067107]	ChrX:17725949 [GRCh38] ChrX:17744069 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.851C>T (p.Thr284Met)	single nucleotide variant	Nance-Horan syndrome [RCV003067787]	ChrX:17692467 [GRCh38] ChrX:17710587 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.1543G>A (p.Gly515Arg)	single nucleotide variant	Nance-Horan syndrome [RCV002603454]	ChrX:17725649 [GRCh38] ChrX:17743769 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2096C>T (p.Ala699Val)	single nucleotide variant	Inborn genetic diseases [RCV003348950]\|NHS-related disorder [RCV003898622]\|Nance-Horan syndrome [RCV002942664]	ChrX:17726202 [GRCh38] ChrX:17744322 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.839G>A (p.Arg280His)	single nucleotide variant	Nance-Horan syndrome [RCV003069169]	ChrX:17692455 [GRCh38] ChrX:17710575 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.2753G>A (p.Ser918Asn)	single nucleotide variant	Inborn genetic diseases [RCV002678566]	ChrX:17726859 [GRCh38] ChrX:17744979 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.719-3C>T	single nucleotide variant	Nance-Horan syndrome [RCV003092829]	ChrX:17692332 [GRCh38] ChrX:17710452 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4858C>T (p.Arg1620Trp)	single nucleotide variant	Nance-Horan syndrome [RCV002942913]	ChrX:17732366 [GRCh38] ChrX:17750486 [GRCh37] ChrX:Xp22.13	benign\|uncertain significance
NM_001291867.2(NHS):c.4118G>A (p.Cys1373Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003069937]\|Nance-Horan syndrome [RCV003069936]	ChrX:17728224 [GRCh38] ChrX:17746344 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2573T>C (p.Leu858Ser)	single nucleotide variant	Nance-Horan syndrome [RCV002589267]	ChrX:17726679 [GRCh38] ChrX:17744799 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.490G>A (p.Val164Ile)	single nucleotide variant	Nance-Horan syndrome [RCV002606863]	ChrX:17376247 [GRCh38] ChrX:17394370 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.3407C>T (p.Thr1136Met)	single nucleotide variant	Nance-Horan syndrome [RCV003070981]	ChrX:17727513 [GRCh38] ChrX:17745633 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.4199A>G (p.Asn1400Ser)	single nucleotide variant	not provided [RCV003228276]	ChrX:17728305 [GRCh38] ChrX:17746425 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3850G>C (p.Asp1284His)	single nucleotide variant	Inborn genetic diseases [RCV004961235]\|Nance-Horan syndrome [RCV005102416]\|not provided [RCV003225403]	ChrX:17727956 [GRCh38] ChrX:17746076 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1205T>A (p.Ile402Asn)	single nucleotide variant	not provided [RCV003223954]	ChrX:17724395 [GRCh38] ChrX:17742515 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.607T>C (p.Tyr203His)	single nucleotide variant	not provided [RCV003214135]	ChrX:17687783 [GRCh38] ChrX:17705903 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4121C>G (p.Ser1374Cys)	single nucleotide variant	Inborn genetic diseases [RCV004374327]\|Nance-Horan syndrome [RCV003622314]	ChrX:17728227 [GRCh38] ChrX:17746347 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.165G>A (p.Glu55=)	single nucleotide variant	Nance-Horan syndrome [RCV003622726]	ChrX:17375922 [GRCh38] ChrX:17394045 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.2721C>T (p.Pro907=)	single nucleotide variant	Nance-Horan syndrome [RCV003623751]	ChrX:17726827 [GRCh38] ChrX:17744947 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.4233G>A (p.Pro1411=)	single nucleotide variant	Nance-Horan syndrome [RCV003623770]	ChrX:17728659 [GRCh38] ChrX:17746779 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3049G>A (p.Gly1017Ser)	single nucleotide variant	Nance-Horan syndrome [RCV003623101]	ChrX:17727155 [GRCh38] ChrX:17745275 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.3307_3323del (p.His1103fs)	deletion	Nance-Horan syndrome [RCV003623249]	ChrX:17727413..17727429 [GRCh38] ChrX:17745533..17745549 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.1925C>A (p.Pro642His)	single nucleotide variant	Nance-Horan syndrome [RCV003623272]	ChrX:17726031 [GRCh38] ChrX:17744151 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.2688C>T (p.Asn896=)	single nucleotide variant	Nance-Horan syndrome [RCV003511270]	ChrX:17726794 [GRCh38] ChrX:17744914 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.1527G>A (p.Arg509=)	single nucleotide variant	Nance-Horan syndrome [RCV003623240]	ChrX:17725633 [GRCh38] ChrX:17743753 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.267C>T (p.Ser89=)	single nucleotide variant	Nance-Horan syndrome [RCV003623423]	ChrX:17376024 [GRCh38] ChrX:17394147 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.3666T>C (p.Thr1222=)	single nucleotide variant	Nance-Horan syndrome [RCV003623360]	ChrX:17727772 [GRCh38] ChrX:17745892 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.567C>T (p.Pro189=)	single nucleotide variant	Nance-Horan syndrome [RCV003623840]	ChrX:17687743 [GRCh38] ChrX:17705863 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.1041G>A (p.Thr347=)	single nucleotide variant	Nance-Horan syndrome [RCV003623563]	ChrX:17721566 [GRCh38] ChrX:17739686 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.719-9C>G	single nucleotide variant	Nance-Horan syndrome [RCV003623614]	ChrX:17692326 [GRCh38] ChrX:17710446 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4627C>A (p.Pro1543Thr)	single nucleotide variant	Nance-Horan syndrome [RCV003623682]	ChrX:17732135 [GRCh38] ChrX:17750255 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.81G>C (p.Ala27=)	single nucleotide variant	Nance-Horan syndrome [RCV003623781]	ChrX:17375838 [GRCh38] ChrX:17393961 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.4222+18T>C	single nucleotide variant	Nance-Horan syndrome [RCV003873654]	ChrX:17728346 [GRCh38] ChrX:17746466 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.2131G>C (p.Asp711His)	single nucleotide variant	Nance-Horan syndrome [RCV003623623]	ChrX:17726237 [GRCh38] ChrX:17744357 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3792C>A (p.Thr1264=)	single nucleotide variant	NHS-related disorder [RCV003919322]\|Nance-Horan syndrome [RCV003623527]	ChrX:17727898 [GRCh38] ChrX:17746018 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.844T>G (p.Phe282Val)	single nucleotide variant	Nance-Horan syndrome [RCV003623615]	ChrX:17692460 [GRCh38] ChrX:17710580 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1441G>A (p.Gly481Ser)	single nucleotide variant	Nance-Horan syndrome [RCV003623806]	ChrX:17725547 [GRCh38] ChrX:17743667 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3386C>A (p.Pro1129Gln)	single nucleotide variant	Nance-Horan syndrome [RCV003623855]	ChrX:17727492 [GRCh38] ChrX:17745612 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.566-52355A>G	single nucleotide variant	Cataract 40 [RCV003485937]	ChrX:17635387 [GRCh38] ChrX:17653507 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4031T>G (p.Phe1344Cys)	single nucleotide variant	Nance-Horan syndrome [RCV003622589]	ChrX:17728137 [GRCh38] ChrX:17746257 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2762G>A (p.Gly921Asp)	single nucleotide variant	Nance-Horan syndrome [RCV003622648]	ChrX:17726868 [GRCh38] ChrX:17744988 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.610C>T (p.Arg204Cys)	single nucleotide variant	Nance-Horan syndrome [RCV003623029]	ChrX:17687786 [GRCh38] ChrX:17705906 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.2669T>C (p.Leu890Pro)	single nucleotide variant	Nance-Horan syndrome [RCV003622540]	ChrX:17726775 [GRCh38] ChrX:17744895 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3297C>T (p.Asn1099=)	single nucleotide variant	Nance-Horan syndrome [RCV003622542]	ChrX:17727403 [GRCh38] ChrX:17745523 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.4464C>T (p.Ser1488=)	single nucleotide variant	Nance-Horan syndrome [RCV003622532]	ChrX:17731972 [GRCh38] ChrX:17750092 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.2371G>T (p.Asp791Tyr)	single nucleotide variant	Nance-Horan syndrome [RCV003622593]	ChrX:17726477 [GRCh38] ChrX:17744597 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1517G>A (p.Ser506Asn)	single nucleotide variant	Nance-Horan syndrome [RCV003623239]	ChrX:17725623 [GRCh38] ChrX:17743743 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1514G>A (p.Arg505Gln)	single nucleotide variant	Nance-Horan syndrome [RCV003623264]	ChrX:17725620 [GRCh38] ChrX:17743740 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.3456T>C (p.Val1152=)	single nucleotide variant	Nance-Horan syndrome [RCV003623312]	ChrX:17727562 [GRCh38] ChrX:17745682 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.819G>A (p.Arg273=)	single nucleotide variant	Nance-Horan syndrome [RCV003623588]	ChrX:17692435 [GRCh38] ChrX:17710555 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.4455T>G (p.Thr1485=)	single nucleotide variant	not provided [RCV003441077]	ChrX:17731963 [GRCh38] ChrX:17750083 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.4581C>T (p.Arg1527=)	single nucleotide variant	not provided [RCV003441079]	ChrX:17732089 [GRCh38] ChrX:17750209 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.1532G>T (p.Gly511Val)	single nucleotide variant	Nance-Horan syndrome [RCV003622441]	ChrX:17725638 [GRCh38] ChrX:17743758 [GRCh37] ChrX:Xp22.13	uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	copy number loss	not provided [RCV003483407]	ChrX:2696762..53113314 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
NM_001291867.2(NHS):c.136C>G (p.Leu46Val)	single nucleotide variant	Nance-Horan syndrome [RCV003511319]	ChrX:17375893 [GRCh38] ChrX:17394016 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.3798C>G (p.Asn1266Lys)	single nucleotide variant	NHS-related disorder [RCV003421031]	ChrX:17727904 [GRCh38] ChrX:17746024 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.-3G>T	single nucleotide variant	not provided [RCV003443390]	ChrX:17375755 [GRCh38] ChrX:17393878 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.1068C>T (p.Ala356=)	single nucleotide variant	not provided [RCV003441070]	ChrX:17721593 [GRCh38] ChrX:17739713 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.1317T>C (p.Asn439=)	single nucleotide variant	not provided [RCV003441072]	ChrX:17725423 [GRCh38] ChrX:17743543 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.4110T>C (p.Pro1370=)	single nucleotide variant	Nance-Horan syndrome [RCV003510229]	ChrX:17728216 [GRCh38] ChrX:17746336 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3827G>A (p.Arg1276Lys)	single nucleotide variant	Nance-Horan syndrome [RCV003510659]	ChrX:17727933 [GRCh38] ChrX:17746053 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1108+3A>T	single nucleotide variant	Nance-Horan syndrome [RCV003509468]	ChrX:17721636 [GRCh38] ChrX:17739756 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3151A>C (p.Lys1051Gln)	single nucleotide variant	Nance-Horan syndrome [RCV003509114]	ChrX:17727257 [GRCh38] ChrX:17745377 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.687C>T (p.His229=)	single nucleotide variant	NHS-related disorder [RCV003939070]\|Nance-Horan syndrome [RCV003510626]	ChrX:17687863 [GRCh38] ChrX:17705983 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.3611_3612delinsGA (p.Asp1204Gly)	indel	Nance-Horan syndrome [RCV003509163]	ChrX:17727717..17727718 [GRCh38] ChrX:17745837..17745838 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2723C>T (p.Thr908Ile)	single nucleotide variant	Nance-Horan syndrome [RCV003510696]	ChrX:17726829 [GRCh38] ChrX:17744949 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2682C>T (p.Phe894=)	single nucleotide variant	Nance-Horan syndrome [RCV003511302]	ChrX:17726788 [GRCh38] ChrX:17744908 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.976A>G (p.Ile326Val)	single nucleotide variant	Nance-Horan syndrome [RCV003511303]	ChrX:17721501 [GRCh38] ChrX:17739621 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.566-13_566-12insG	insertion	Nance-Horan syndrome [RCV003511306]	ChrX:17687729..17687730 [GRCh38] ChrX:17705849..17705850 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.718+13G>A	single nucleotide variant	Nance-Horan syndrome [RCV003511327]	ChrX:17687907 [GRCh38] ChrX:17706027 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.1443C>G (p.Gly481=)	single nucleotide variant	Nance-Horan syndrome [RCV003510809]	ChrX:17725549 [GRCh38] ChrX:17743669 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.372dup (p.Cys125fs)	duplication	Nance-Horan syndrome [RCV003510307]	ChrX:17376128..17376129 [GRCh38] ChrX:17394251..17394252 [GRCh37] ChrX:Xp22.2	pathogenic
NM_001291867.2(NHS):c.566-13_566-12insA	insertion	Nance-Horan syndrome [RCV003510950]	ChrX:17687729..17687730 [GRCh38] ChrX:17705849..17705850 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.197G>C (p.Gly66Ala)	single nucleotide variant	Nance-Horan syndrome [RCV003511051]	ChrX:17375954 [GRCh38] ChrX:17394077 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.2448G>A (p.Gly816=)	single nucleotide variant	Nance-Horan syndrome [RCV003876740]	ChrX:17726554 [GRCh38] ChrX:17744674 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.86G>T (p.Gly29Val)	single nucleotide variant	Nance-Horan syndrome [RCV003510927]	ChrX:17375843 [GRCh38] ChrX:17393966 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.2897C>A (p.Ser966Ter)	single nucleotide variant	Nance-Horan syndrome [RCV003510373]	ChrX:17727003 [GRCh38] ChrX:17745123 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.566-12C>T	single nucleotide variant	Nance-Horan syndrome [RCV003510951]	ChrX:17687730 [GRCh38] ChrX:17705850 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.3842G>A (p.Arg1281His)	single nucleotide variant	Inborn genetic diseases [RCV004953317]\|Nance-Horan syndrome [RCV003511129]\|not provided [RCV004696549]	ChrX:17727948 [GRCh38] ChrX:17746068 [GRCh37] ChrX:Xp22.13	likely benign\|uncertain significance
NM_001291867.2(NHS):c.1326C>T (p.Ser442=)	single nucleotide variant	Nance-Horan syndrome [RCV003511273]	ChrX:17725432 [GRCh38] ChrX:17743552 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.3890A>G (p.Asp1297Gly)	single nucleotide variant	Nance-Horan syndrome [RCV003511352]	ChrX:17727996 [GRCh38] ChrX:17746116 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.1674G>C (p.Gln558His)	single nucleotide variant	Nance-Horan syndrome [RCV003509937]	ChrX:17725780 [GRCh38] ChrX:17743900 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4699T>C (p.Ser1567Pro)	single nucleotide variant	Nance-Horan syndrome [RCV003824584]	ChrX:17732207 [GRCh38] ChrX:17750327 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1574C>G (p.Pro525Arg)	single nucleotide variant	Nance-Horan syndrome [RCV003510236]	ChrX:17725680 [GRCh38] ChrX:17743800 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2821G>A (p.Glu941Lys)	single nucleotide variant	Nance-Horan syndrome [RCV003511322]	ChrX:17726927 [GRCh38] ChrX:17745047 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3993T>G (p.Thr1331=)	single nucleotide variant	Nance-Horan syndrome [RCV003509250]	ChrX:17728099 [GRCh38] ChrX:17746219 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.410G>C (p.Arg137Pro)	single nucleotide variant	Nance-Horan syndrome [RCV003510841]	ChrX:17376167 [GRCh38] ChrX:17394290 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.86del (p.Gly29fs)	deletion	Nance-Horan syndrome [RCV003510475]	ChrX:17375842 [GRCh38] ChrX:17393965 [GRCh37] ChrX:Xp22.2	pathogenic
NM_001291867.2(NHS):c.1732G>A (p.Glu578Lys)	single nucleotide variant	Nance-Horan syndrome [RCV003510920]	ChrX:17725838 [GRCh38] ChrX:17743958 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1903A>G (p.Ser635Gly)	single nucleotide variant	Nance-Horan syndrome [RCV003509291]	ChrX:17726009 [GRCh38] ChrX:17744129 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1645C>T (p.Pro549Ser)	single nucleotide variant	Nance-Horan syndrome [RCV003509349]	ChrX:17725751 [GRCh38] ChrX:17743871 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.4637C>A (p.Pro1546His)	single nucleotide variant	Nance-Horan syndrome [RCV003510570]	ChrX:17732145 [GRCh38] ChrX:17750265 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.134dup (p.Asp45fs)	duplication	Nance-Horan syndrome [RCV003509896]	ChrX:17375890..17375891 [GRCh38] ChrX:17394013..17394014 [GRCh37] ChrX:Xp22.2	pathogenic
NM_001291867.2(NHS):c.4223-12T>C	single nucleotide variant	Nance-Horan syndrome [RCV003877395]	ChrX:17728637 [GRCh38] ChrX:17746757 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.853-2A>C	single nucleotide variant	Cataract 40 [RCV003485934]	ChrX:17719342 [GRCh38] ChrX:17737462 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.1191G>A (p.Arg397=)	single nucleotide variant	not specified [RCV003994898]	ChrX:17724381 [GRCh38] ChrX:17742501 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.2512C>T (p.Pro838Ser)	single nucleotide variant	Nance-Horan syndrome [RCV003855620]	ChrX:17726618 [GRCh38] ChrX:17744738 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.950T>C (p.Met317Thr)	single nucleotide variant	Nance-Horan syndrome [RCV003816429]	ChrX:17721475 [GRCh38] ChrX:17739595 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.2690C>T (p.Thr897Met)	single nucleotide variant	Nance-Horan syndrome [RCV003622093]	ChrX:17726796 [GRCh38] ChrX:17744916 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.2714A>G (p.Asn905Ser)	single nucleotide variant	Nance-Horan syndrome [RCV003841284]	ChrX:17726820 [GRCh38] ChrX:17744940 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4536A>G (p.Thr1512=)	single nucleotide variant	Nance-Horan syndrome [RCV003866084]	ChrX:17732044 [GRCh38] ChrX:17750164 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.1824C>T (p.His608=)	single nucleotide variant	Nance-Horan syndrome [RCV003621826]	ChrX:17725930 [GRCh38] ChrX:17744050 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.2546C>T (p.Pro849Leu)	single nucleotide variant	Nance-Horan syndrome [RCV003621831]	ChrX:17726652 [GRCh38] ChrX:17744772 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.608A>G (p.Tyr203Cys)	single nucleotide variant	Nance-Horan syndrome [RCV003621883]	ChrX:17687784 [GRCh38] ChrX:17705904 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1203C>T (p.Thr401=)	single nucleotide variant	Nance-Horan syndrome [RCV003621903]	ChrX:17724393 [GRCh38] ChrX:17742513 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.4429AGC[3] (p.Ser1480del)	microsatellite	Nance-Horan syndrome [RCV003622191]	ChrX:17731937..17731939 [GRCh38] ChrX:17750057..17750059 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2322C>T (p.Ser774=)	single nucleotide variant	Nance-Horan syndrome [RCV003863023]	ChrX:17726428 [GRCh38] ChrX:17744548 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.554A>G (p.Gln185Arg)	single nucleotide variant	Nance-Horan syndrome [RCV003622196]	ChrX:17376311 [GRCh38] ChrX:17394434 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.1109-18C>A	single nucleotide variant	Nance-Horan syndrome [RCV003823504]	ChrX:17724281 [GRCh38] ChrX:17742401 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3532A>G (p.Ser1178Gly)	single nucleotide variant	Nance-Horan syndrome [RCV003866970]\|not provided [RCV003885390]	ChrX:17727638 [GRCh38] ChrX:17745758 [GRCh37] ChrX:Xp22.13	likely benign\|uncertain significance
NM_001291867.2(NHS):c.1502G>A (p.Arg501His)	single nucleotide variant	Nance-Horan syndrome [RCV003871709]	ChrX:17725608 [GRCh38] ChrX:17743728 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2749C>A (p.Gln917Lys)	single nucleotide variant	Nance-Horan syndrome [RCV003622142]	ChrX:17726855 [GRCh38] ChrX:17744975 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.3505A>C (p.Thr1169Pro)	single nucleotide variant	Nance-Horan syndrome [RCV003622137]	ChrX:17727611 [GRCh38] ChrX:17745731 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1994C>T (p.Ser665Leu)	single nucleotide variant	Nance-Horan syndrome [RCV003622170]	ChrX:17726100 [GRCh38] ChrX:17744220 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2880T>C (p.Tyr960=)	single nucleotide variant	Nance-Horan syndrome [RCV003622178]	ChrX:17726986 [GRCh38] ChrX:17745106 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.3132A>G (p.Pro1044=)	single nucleotide variant	Nance-Horan syndrome [RCV003622256]	ChrX:17727238 [GRCh38] ChrX:17745358 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.916-17T>C	single nucleotide variant	Nance-Horan syndrome [RCV003853628]	ChrX:17721424 [GRCh38] ChrX:17739544 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.1246G>C (p.Asp416His)	single nucleotide variant	NHS-related disorder [RCV003901350]\|Nance-Horan syndrome [RCV003622050]	ChrX:17725352 [GRCh38] ChrX:17743472 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3745G>A (p.Asp1249Asn)	single nucleotide variant	Nance-Horan syndrome [RCV003865685]	ChrX:17727851 [GRCh38] ChrX:17745971 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2297C>T (p.Ser766Phe)	single nucleotide variant	Nance-Horan syndrome [RCV003857008]	ChrX:17726403 [GRCh38] ChrX:17744523 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2963C>G (p.Thr988Arg)	single nucleotide variant	Nance-Horan syndrome [RCV003858389]	ChrX:17727069 [GRCh38] ChrX:17745189 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.1301C>A (p.Pro434His)	single nucleotide variant	Nance-Horan syndrome [RCV003621975]	ChrX:17725407 [GRCh38] ChrX:17743527 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.718+2_718+3dup	duplication	not provided [RCV003886808]	ChrX:17687894..17687895 [GRCh38] ChrX:17706014..17706015 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.2496C>A (p.His832Gln)	single nucleotide variant	NHS-related disorder [RCV003894380]	ChrX:17726602 [GRCh38] ChrX:17744722 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.328_348del (p.Ser110_Ala116del)	deletion	Nance-Horan syndrome [RCV003988954]\|not provided [RCV004775543]	ChrX:17376081..17376101 [GRCh38] ChrX:17394204..17394224 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.243_244del (p.Gln82fs)	deletion	NHS-related disorder [RCV003894256]	ChrX:17375999..17376000 [GRCh38] ChrX:17394122..17394123 [GRCh37] ChrX:Xp22.2	likely pathogenic
GRCh37/hg19 Xp22.2-22.13(chrX:16773068-17546881)x3	copy number gain	not provided [RCV003885526]	ChrX:16773068..17546881 [GRCh37] ChrX:Xp22.2-22.13	uncertain significance
NM_001291867.2(NHS):c.1299C>A (p.Asp433Glu)	single nucleotide variant	not provided [RCV004546978]	ChrX:17725405 [GRCh38] ChrX:17743525 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2422G>A (p.Gly808Ser)	single nucleotide variant	not provided [RCV004592319]	ChrX:17726528 [GRCh38] ChrX:17744648 [GRCh37] ChrX:Xp22.13	uncertain significance
NC_000023.10:g.(?_17393881)_(20284750_?)del	deletion	Coffin-Lowry syndrome [RCV004583107]\|Developmental and epileptic encephalopathy, 2 [RCV004583106]\|Nance-Horan syndrome [RCV004583105]\|Pyruvate dehydrogenase E1-alpha deficiency [RCV004583104]	ChrX:17393881..20284750 [GRCh37] ChrX:Xp22.13-22.12	pathogenic
NM_001291867.2(NHS):c.781C>T (p.Pro261Ser)	single nucleotide variant	not provided [RCV004697897]	ChrX:17692397 [GRCh38] ChrX:17710517 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2164G>A (p.Glu722Lys)	single nucleotide variant	not provided [RCV004697898]	ChrX:17726270 [GRCh38] ChrX:17744390 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4050T>C (p.His1350=)	single nucleotide variant	NHS-related disorder [RCV004730621]	ChrX:17728156 [GRCh38] ChrX:17746276 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3516G>A (p.Thr1172=)	single nucleotide variant	not provided [RCV004809437]	ChrX:17727622 [GRCh38] ChrX:17745742 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3074A>G (p.Tyr1025Cys)	single nucleotide variant	not provided [RCV004763228]		uncertain significance
NM_001291867.2(NHS):c.3235C>T (p.Leu1079Phe)	single nucleotide variant	not provided [RCV004725894]	ChrX:17727341 [GRCh38] ChrX:17745461 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2295del (p.Lys765fs)	deletion	Nance-Horan syndrome [RCV004764570]	ChrX:17726401 [GRCh38] ChrX:17744521 [GRCh37] ChrX:Xp22.13	likely pathogenic
NM_001291867.2(NHS):c.3825G>C (p.Gln1275His)	single nucleotide variant	NHS-related disorder [RCV004755537]	ChrX:17727931 [GRCh38] ChrX:17746051 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1109-8G>A	single nucleotide variant	not provided [RCV004766127]	ChrX:17724291 [GRCh38] ChrX:17742411 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3438C>T (p.Ile1146=)	single nucleotide variant	not provided [RCV004812112]	ChrX:17727544 [GRCh38] ChrX:17745664 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.617C>T (p.Pro206Leu)	single nucleotide variant	not provided [RCV004774962]	ChrX:17687793 [GRCh38] ChrX:17705913 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.647del (p.Pro216fs)	deletion	NHS-related disorder [RCV004731396]	ChrX:17687821 [GRCh38] ChrX:17705941 [GRCh37] ChrX:Xp22.13	likely pathogenic
NM_001291867.2(NHS):c.2577G>C (p.Arg859Ser)	single nucleotide variant	not provided [RCV004776184]	ChrX:17726683 [GRCh38] ChrX:17744803 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.251C>G (p.Pro84Arg)	single nucleotide variant	not provided [RCV004763118]		uncertain significance
NM_001291867.2(NHS):c.1403G>C (p.Arg468Thr)	single nucleotide variant	not provided [RCV004769016]	ChrX:17725509 [GRCh38] ChrX:17743629 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.799C>T (p.Pro267Ser)	single nucleotide variant	NHS-related disorder [RCV004755472]	ChrX:17692415 [GRCh38] ChrX:17710535 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4370GAA[1] (p.Arg1458del)	microsatellite	not provided [RCV004760897]		uncertain significance
NM_001291867.2(NHS):c.4739C>T (p.Ser1580Phe)	single nucleotide variant	not provided [RCV004761101]		uncertain significance
NM_001291867.2(NHS):c.4624A>G (p.Ser1542Gly)	single nucleotide variant	not provided [RCV004771866]	ChrX:17732132 [GRCh38] ChrX:17750252 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3388T>C (p.Ser1130Pro)	single nucleotide variant	Inborn genetic diseases [RCV004961758]	ChrX:17727494 [GRCh38] ChrX:17745614 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4147A>G (p.Ile1383Val)	single nucleotide variant	Inborn genetic diseases [RCV004961759]	ChrX:17728253 [GRCh38] ChrX:17746373 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1769A>T (p.Asp590Val)	single nucleotide variant	Inborn genetic diseases [RCV004961755]	ChrX:17725875 [GRCh38] ChrX:17743995 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3454G>C (p.Val1152Leu)	single nucleotide variant	Inborn genetic diseases [RCV004961757]	ChrX:17727560 [GRCh38] ChrX:17745680 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3728A>T (p.Asp1243Val)	single nucleotide variant	Inborn genetic diseases [RCV004961756]	ChrX:17727834 [GRCh38] ChrX:17745954 [GRCh37] ChrX:Xp22.13	uncertain significance
GRCh37/hg19 Xp22.2-11.23(chrX:15392463-48777470)x1	copy number loss	not provided [RCV004819405]	ChrX:15392463..48777470 [GRCh37] ChrX:Xp22.2-11.23	pathogenic
NM_001291867.2(NHS):c.4417C>A (p.Pro1473Thr)	single nucleotide variant	Nance-Horan syndrome [RCV002637453]	ChrX:17731925 [GRCh38] ChrX:17750045 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1941A>C (p.Glu647Asp)	single nucleotide variant	Inborn genetic diseases [RCV002768359]	ChrX:17726047 [GRCh38] ChrX:17744167 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4314T>C (p.Pro1438=)	single nucleotide variant	Nance-Horan syndrome [RCV002890313]	ChrX:17728740 [GRCh38] ChrX:17746860 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.3665C>T (p.Thr1222Ile)	single nucleotide variant	Inborn genetic diseases [RCV002891596]	ChrX:17727771 [GRCh38] ChrX:17745891 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3314G>A (p.Arg1105His)	single nucleotide variant	Inborn genetic diseases [RCV004960887]\|Nance-Horan syndrome [RCV003009239]	ChrX:17727420 [GRCh38] ChrX:17745540 [GRCh37] ChrX:Xp22.13	likely benign\|uncertain significance
NM_001291867.2(NHS):c.1674G>A (p.Gln558=)	single nucleotide variant	Nance-Horan syndrome [RCV002675545]	ChrX:17725780 [GRCh38] ChrX:17743900 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3646C>T (p.His1216Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002724547]	ChrX:17727752 [GRCh38] ChrX:17745872 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.176G>A (p.Arg59His)	single nucleotide variant	Inborn genetic diseases [RCV003279645]	ChrX:17375933 [GRCh38] ChrX:17394056 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.548C>G (p.Pro183Arg)	single nucleotide variant	not provided [RCV003133024]	ChrX:17376305 [GRCh38] ChrX:17394428 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.1982C>T (p.Ser661Leu)	single nucleotide variant	not provided [RCV003330012]	ChrX:17726088 [GRCh38] ChrX:17744208 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3062C>T (p.Pro1021Leu)	single nucleotide variant	not provided [RCV003329834]	ChrX:17727168 [GRCh38] ChrX:17745288 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.332C>T (p.Ser111Leu)	single nucleotide variant	Inborn genetic diseases [RCV003379489]	ChrX:17376089 [GRCh38] ChrX:17394212 [GRCh37] ChrX:Xp22.2	uncertain significance
GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	copy number gain	not provided [RCV003483939]	ChrX:168547..30774453 [GRCh37] ChrX:Xp22.33-21.2	pathogenic
NM_001291867.2(NHS):c.961A>C (p.Arg321=)	single nucleotide variant	not provided [RCV003441069]	ChrX:17721486 [GRCh38] ChrX:17739606 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.1108+4T>C	single nucleotide variant	not provided [RCV003441071]	ChrX:17721637 [GRCh38] ChrX:17739757 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.1407T>G (p.Gly469=)	single nucleotide variant	not provided [RCV003441073]	ChrX:17725513 [GRCh38] ChrX:17743633 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.1655C>T (p.Pro552Leu)	single nucleotide variant	Nance-Horan syndrome [RCV005100070]\|not provided [RCV003441074]	ChrX:17725761 [GRCh38] ChrX:17743881 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.1995G>A (p.Ser665=)	single nucleotide variant	Nance-Horan syndrome [RCV003509824]\|not provided [RCV003441075]	ChrX:17726101 [GRCh38] ChrX:17744221 [GRCh37] ChrX:Xp22.13	benign\|likely benign
NM_001291867.2(NHS):c.4049A>G (p.His1350Arg)	single nucleotide variant	not provided [RCV003441076]	ChrX:17728155 [GRCh38] ChrX:17746275 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4493G>A (p.Arg1498Lys)	single nucleotide variant	not provided [RCV003441078]	ChrX:17732001 [GRCh38] ChrX:17750121 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.310_348del (p.Pro104_Ala116del)	deletion	not provided [RCV003441067]	ChrX:17376060..17376098 [GRCh38] ChrX:17394183..17394221 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.526C>G (p.Arg176Gly)	single nucleotide variant	Nance-Horan syndrome [RCV005100069]\|not provided [RCV003441068]	ChrX:17376283 [GRCh38] ChrX:17394406 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.3801_3802del (p.Ala1268fs)	microsatellite	Nance-Horan syndrome [RCV003485935]	ChrX:17727905..17727906 [GRCh38] ChrX:17746025..17746026 [GRCh37] ChrX:Xp22.13	pathogenic
NM_001291867.2(NHS):c.2789C>T (p.Ser930Leu)	single nucleotide variant	Nance-Horan syndrome [RCV003511168]	ChrX:17726895 [GRCh38] ChrX:17745015 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.736G>T (p.Asp246Tyr)	single nucleotide variant	Nance-Horan syndrome [RCV003852562]	ChrX:17692352 [GRCh38] ChrX:17710472 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2472T>A (p.Cys824Ter)	single nucleotide variant	Nance-Horan syndrome [RCV005208238]	ChrX:17726578 [GRCh38] ChrX:17744698 [GRCh37] ChrX:Xp22.13	likely pathogenic
NM_001291867.2(NHS):c.1466A>G (p.Lys489Arg)	single nucleotide variant	Inborn genetic diseases [RCV004953552]\|Nance-Horan syndrome [RCV003815951]\|not provided [RCV005242442]	ChrX:17725572 [GRCh38] ChrX:17743692 [GRCh37] ChrX:Xp22.13	likely benign\|uncertain significance
NM_001291867.2(NHS):c.1108+1G>A	single nucleotide variant	Nance-Horan syndrome [RCV003985989]	ChrX:17721634 [GRCh38] ChrX:17739754 [GRCh37] ChrX:Xp22.13	likely pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	copy number loss	not specified [RCV003986240]	ChrX:168546..58364114 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	copy number loss	not specified [RCV003986200]	ChrX:168546..55653170 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_001291867.2(NHS):c.424G>C (p.Val142Leu)	single nucleotide variant	Nance-Horan syndrome [RCV003622068]	ChrX:17376181 [GRCh38] ChrX:17394304 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.366G>A (p.Leu122=)	single nucleotide variant	Nance-Horan syndrome [RCV003622087]	ChrX:17376123 [GRCh38] ChrX:17394246 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.256G>A (p.Gly86Arg)	single nucleotide variant	Inborn genetic diseases [RCV004490644]	ChrX:17376013 [GRCh38] ChrX:17394136 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.4769C>T (p.Ser1590Leu)	single nucleotide variant	Inborn genetic diseases [RCV004490649]	ChrX:17732277 [GRCh38] ChrX:17750397 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2342C>T (p.Thr781Met)	single nucleotide variant	Inborn genetic diseases [RCV004490642]	ChrX:17726448 [GRCh38] ChrX:17744568 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3690T>A (p.Asp1230Glu)	single nucleotide variant	Inborn genetic diseases [RCV004490647]	ChrX:17727796 [GRCh38] ChrX:17745916 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.601G>A (p.Val201Met)	single nucleotide variant	Inborn genetic diseases [RCV004490650]	ChrX:17687777 [GRCh38] ChrX:17705897 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3496G>A (p.Glu1166Lys)	single nucleotide variant	Inborn genetic diseases [RCV004490646]	ChrX:17727602 [GRCh38] ChrX:17745722 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.646C>G (p.Pro216Ala)	single nucleotide variant	Inborn genetic diseases [RCV004490651]	ChrX:17687822 [GRCh38] ChrX:17705942 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.2651G>A (p.Ser884Asn)	single nucleotide variant	NHS-related disorder [RCV003956880]	ChrX:17726757 [GRCh38] ChrX:17744877 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3119T>C (p.Phe1040Ser)	single nucleotide variant	Inborn genetic diseases [RCV004490645]	ChrX:17727225 [GRCh38] ChrX:17745345 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1500C>T (p.Ser500=)	single nucleotide variant	NHS-related disorder [RCV003954332]	ChrX:17725606 [GRCh38] ChrX:17743726 [GRCh37] ChrX:Xp22.13	likely benign
GRCh37/hg19 Xp22.2-22.13(chrX:16582625-18323335)x0	copy number loss	not provided [RCV003885525]	ChrX:16582625..18323335 [GRCh37] ChrX:Xp22.2-22.13	pathogenic
NM_001291867.2(NHS):c.2614G>A (p.Glu872Lys)	single nucleotide variant	Inborn genetic diseases [RCV004490643]	ChrX:17726720 [GRCh38] ChrX:17744840 [GRCh37] ChrX:Xp22.13	uncertain significance
NC_000023.10:g.(?_14027032)_(19854400_?)del	deletion	not provided [RCV004583528]	ChrX:14027032..19854400 [GRCh37] ChrX:Xp22.2-22.12	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	copy number gain	Klinefelter syndrome [RCV004579655]	ChrX:2757837..156030895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
NM_001291867.2(NHS):c.3683G>T (p.Arg1228Leu)	single nucleotide variant	Inborn genetic diseases [RCV004647097]	ChrX:17727789 [GRCh38] ChrX:17745909 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4358G>A (p.Arg1453Lys)	single nucleotide variant	Inborn genetic diseases [RCV004647099]	ChrX:17731866 [GRCh38] ChrX:17749986 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1364T>C (p.Leu455Pro)	single nucleotide variant	Nance-Horan syndrome [RCV005041721]	ChrX:17725470 [GRCh38] ChrX:17743590 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.117G>A (p.Gln39=)	single nucleotide variant	Nance-Horan syndrome [RCV005195498]	ChrX:17375874 [GRCh38] ChrX:17393997 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.841C>T (p.His281Tyr)	single nucleotide variant	not provided [RCV005227374]	ChrX:17692457 [GRCh38] ChrX:17710577 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2447G>A (p.Gly816Glu)	single nucleotide variant	Nance-Horan syndrome [RCV005175975]	ChrX:17726553 [GRCh38] ChrX:17744673 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.583A>G (p.Ile195Val)	single nucleotide variant	Nance-Horan syndrome [RCV005174361]	ChrX:17687759 [GRCh38] ChrX:17705879 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.765C>A (p.Pro255=)	single nucleotide variant	Nance-Horan syndrome [RCV005060670]	ChrX:17692381 [GRCh38] ChrX:17710501 [GRCh37] ChrX:Xp22.13	likely benign
Single allele	inversion	Duchenne muscular dystrophy [RCV005229749]	ChrX:17398320..32130845 [GRCh38] ChrX:Xp22.2-21.1	pathogenic
NM_001291867.2(NHS):c.1857C>T (p.Ser619=)	single nucleotide variant	Nance-Horan syndrome [RCV005175179]	ChrX:17725963 [GRCh38] ChrX:17744083 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.237C>T (p.Asp79=)	single nucleotide variant	Nance-Horan syndrome [RCV005171713]	ChrX:17375994 [GRCh38] ChrX:17394117 [GRCh37] ChrX:Xp22.2	likely benign
NM_001291867.2(NHS):c.3153A>C (p.Lys1051Asn)	single nucleotide variant	Nance-Horan syndrome [RCV005146176]	ChrX:17727259 [GRCh38] ChrX:17745379 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3010G>A (p.Asp1004Asn)	single nucleotide variant	Nance-Horan syndrome [RCV005171796]	ChrX:17727116 [GRCh38] ChrX:17745236 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4542T>C (p.Asn1514=)	single nucleotide variant	Nance-Horan syndrome [RCV005087235]	ChrX:17732050 [GRCh38] ChrX:17750170 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.566-18_566-17del	deletion	Nance-Horan syndrome [RCV005145298]	ChrX:17687724..17687725 [GRCh38] ChrX:17705844..17705845 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3571C>T (p.Arg1191Cys)	single nucleotide variant	Nance-Horan syndrome [RCV005176796]	ChrX:17727677 [GRCh38] ChrX:17745797 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.1164G>A (p.Ser388=)	single nucleotide variant	Nance-Horan syndrome [RCV005193404]	ChrX:17724354 [GRCh38] ChrX:17742474 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.2170A>G (p.Asn724Asp)	single nucleotide variant	Nance-Horan syndrome [RCV005121986]	ChrX:17726276 [GRCh38] ChrX:17744396 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3684C>T (p.Arg1228=)	single nucleotide variant	Nance-Horan syndrome [RCV005129151]	ChrX:17727790 [GRCh38] ChrX:17745910 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.4713G>A (p.Glu1571=)	single nucleotide variant	Nance-Horan syndrome [RCV005207196]	ChrX:17732221 [GRCh38] ChrX:17750341 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.725G>A (p.Arg242Gln)	single nucleotide variant	Nance-Horan syndrome [RCV005186933]	ChrX:17692341 [GRCh38] ChrX:17710461 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3506C>T (p.Thr1169Ile)	single nucleotide variant	Nance-Horan syndrome [RCV005132396]	ChrX:17727612 [GRCh38] ChrX:17745732 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.482A>G (p.His161Arg)	single nucleotide variant	Nance-Horan syndrome [RCV005182246]	ChrX:17376239 [GRCh38] ChrX:17394362 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.2469T>G (p.Asp823Glu)	single nucleotide variant	Nance-Horan syndrome [RCV005155350]	ChrX:17726575 [GRCh38] ChrX:17744695 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.718+19G>A	single nucleotide variant	Nance-Horan syndrome [RCV005125702]	ChrX:17687913 [GRCh38] ChrX:17706033 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.1935C>T (p.Thr645=)	single nucleotide variant	Nance-Horan syndrome [RCV005070227]	ChrX:17726041 [GRCh38] ChrX:17744161 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.4276G>A (p.Ala1426Thr)	single nucleotide variant	Nance-Horan syndrome [RCV005158578]	ChrX:17728702 [GRCh38] ChrX:17746822 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.333GGC[9] (p.Ala117_Val118insAlaAlaAla)	microsatellite	Nance-Horan syndrome [RCV005187885]	ChrX:17376088..17376089 [GRCh38] ChrX:17394211..17394212 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.3395C>A (p.Ala1132Glu)	single nucleotide variant	Nance-Horan syndrome [RCV005136252]	ChrX:17727501 [GRCh38] ChrX:17745621 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1737G>A (p.Arg579=)	single nucleotide variant	Nance-Horan syndrome [RCV005110962]	ChrX:17725843 [GRCh38] ChrX:17743963 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.430C>T (p.Arg144Trp)	single nucleotide variant	Nance-Horan syndrome [RCV005162363]	ChrX:17376187 [GRCh38] ChrX:17394310 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.3217A>G (p.Ile1073Val)	single nucleotide variant	not provided [RCV005244753]	ChrX:17727323 [GRCh38] ChrX:17745443 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3257C>T (p.Pro1086Leu)	single nucleotide variant	Nance-Horan syndrome [RCV005167671]	ChrX:17727363 [GRCh38] ChrX:17745483 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.333G>C (p.Ser111=)	single nucleotide variant	Nance-Horan syndrome [RCV005152566]	ChrX:17376090 [GRCh38] ChrX:17394213 [GRCh37] ChrX:Xp22.2	benign
NM_001291867.2(NHS):c.2691G>A (p.Thr897=)	single nucleotide variant	Nance-Horan syndrome [RCV005078225]	ChrX:17726797 [GRCh38] ChrX:17744917 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.735C>T (p.Ser245=)	single nucleotide variant	Nance-Horan syndrome [RCV005141981]	ChrX:17692351 [GRCh38] ChrX:17710471 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.114dup (p.Gln39fs)	duplication	Nance-Horan syndrome [RCV005119609]	ChrX:17375870..17375871 [GRCh38] ChrX:17393993..17393994 [GRCh37] ChrX:Xp22.2	pathogenic
NM_001291867.2(NHS):c.568G>A (p.Val190Ile)	single nucleotide variant	Nance-Horan syndrome [RCV005183675]	ChrX:17687744 [GRCh38] ChrX:17705864 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.2092C>T (p.Arg698Trp)	single nucleotide variant	Nance-Horan syndrome [RCV005077942]	ChrX:17726198 [GRCh38] ChrX:17744318 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4422C>A (p.Leu1474=)	single nucleotide variant	Nance-Horan syndrome [RCV005198166]	ChrX:17731930 [GRCh38] ChrX:17750050 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.1108+12G>T	single nucleotide variant	Nance-Horan syndrome [RCV005187222]	ChrX:17721645 [GRCh38] ChrX:17739765 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.125G>T (p.Gly42Val)	single nucleotide variant	Nance-Horan syndrome [RCV005083549]	ChrX:17375882 [GRCh38] ChrX:17394005 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.3339TAA[1] (p.Asn1114del)	microsatellite	Nance-Horan syndrome [RCV005119952]	ChrX:17727444..17727446 [GRCh38] ChrX:17745564..17745566 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2179C>T (p.His727Tyr)	single nucleotide variant	Nance-Horan syndrome [RCV005071860]	ChrX:17726285 [GRCh38] ChrX:17744405 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.852G>C (p.Thr284=)	single nucleotide variant	Nance-Horan syndrome [RCV005072034]	ChrX:17692468 [GRCh38] ChrX:17710588 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2936A>G (p.Lys979Arg)	single nucleotide variant	Nance-Horan syndrome [RCV005192703]	ChrX:17727042 [GRCh38] ChrX:17745162 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.632G>A (p.Arg211His)	single nucleotide variant	Nance-Horan syndrome [RCV005107971]	ChrX:17687808 [GRCh38] ChrX:17705928 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.1740_1748del (p.Arg581_Arg583del)	deletion	Nance-Horan syndrome [RCV005150397]	ChrX:17725845..17725853 [GRCh38] ChrX:17743965..17743973 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.2313G>A (p.Ala771=)	single nucleotide variant	Nance-Horan syndrome [RCV005197871]	ChrX:17726419 [GRCh38] ChrX:17744539 [GRCh37] ChrX:Xp22.13	benign
NM_001291867.2(NHS):c.1805C>T (p.Thr602Met)	single nucleotide variant	Nance-Horan syndrome [RCV005152599]	ChrX:17725911 [GRCh38] ChrX:17744031 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.4791A>G (p.Ala1597=)	single nucleotide variant	Nance-Horan syndrome [RCV005203426]	ChrX:17732299 [GRCh38] ChrX:17750419 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.2163T>C (p.Ser721=)	single nucleotide variant	Nance-Horan syndrome [RCV005074346]	ChrX:17726269 [GRCh38] ChrX:17744389 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.4871C>G (p.Thr1624Arg)	single nucleotide variant	Nance-Horan syndrome [RCV005127401]	ChrX:17732379 [GRCh38] ChrX:17750499 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3782A>G (p.Asn1261Ser)	single nucleotide variant	Nance-Horan syndrome [RCV005197857]	ChrX:17727888 [GRCh38] ChrX:17746008 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.4223-7T>C	single nucleotide variant	Nance-Horan syndrome [RCV005070971]	ChrX:17728642 [GRCh38] ChrX:17746762 [GRCh37] ChrX:Xp22.13	likely benign
NM_001291867.2(NHS):c.3097A>G (p.Thr1033Ala)	single nucleotide variant	Nance-Horan syndrome [RCV005155654]	ChrX:17727203 [GRCh38] ChrX:17745323 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.565+5G>C	single nucleotide variant	Nance-Horan syndrome [RCV005125805]	ChrX:17376327 [GRCh38] ChrX:17394450 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001291867.2(NHS):c.1778G>A (p.Ser593Asn)	single nucleotide variant	Nance-Horan syndrome [RCV005177662]	ChrX:17725884 [GRCh38] ChrX:17744004 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3432G>T (p.Arg1144Ser)	single nucleotide variant	Nance-Horan syndrome [RCV005136397]	ChrX:17727538 [GRCh38] ChrX:17745658 [GRCh37] ChrX:Xp22.13	uncertain significance
GRCh37/hg19 Xp22.33-21.3(chrX:2631638-25008584)x1	copy number loss	not provided [RCV004819402]	ChrX:2631638..25008584 [GRCh37] ChrX:Xp22.33-21.3	pathogenic
NM_001291867.2(NHS):c.349del (p.Ala117fs)	deletion	Nance-Horan syndrome [RCV005002033]	ChrX:17376105 [GRCh38] ChrX:17394228 [GRCh37] ChrX:Xp22.2	likely pathogenic
NM_001291867.2(NHS):c.4058T>G (p.Val1353Gly)	single nucleotide variant	not provided [RCV005001654]	ChrX:17728164 [GRCh38] ChrX:17746284 [GRCh37] ChrX:Xp22.13	uncertain significance
NM_001291867.2(NHS):c.3360A>G (p.Gly1120=)	single nucleotide variant	Nance-Horan syndrome [RCV005180295]	ChrX:17727466 [GRCh38] ChrX:17745586 [GRCh37] ChrX:Xp22.13	benign

Predicted Target Of

	Summary Value
Count of predictions:	4129
Count of miRNA genes:	1082
Interacting mature miRNAs:	1395
Transcripts:	ENST00000380060, ENST00000398097, ENST00000485305
Prediction methods:	Microtar, Miranda, Pita, Pita,Targetscan, 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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597145523	GWAS1241597_H	COVID-19 QTL GWAS1241597 (human)		0.0000009	COVID-19		X	17526311	17526312	Human
407146269	GWAS795245_H	triacylglycerol 52:6 measurement QTL GWAS795245 (human)		0.000002	blood triglyceride amount (VT:0002644)		X	17579876	17579877	Human
407028127	GWAS677103_H	Nephroblastoma QTL GWAS677103 (human)		1e-09	Nephroblastoma		X	17680277	17680278	Human

DXS1195

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	17,534,592 - 17,534,828	UniSTS	GRCh37
Build 36	X	17,444,513 - 17,444,749	RGD	NCBI36
Celera	X	21,653,901 - 21,654,137	RGD
Cytogenetic Map	X	p22.13	UniSTS
HuRef	X	15,293,510 - 15,293,746	UniSTS
Marshfield Genetic Map	X	22.72	UniSTS
Marshfield Genetic Map	X	22.72	RGD
Genethon Genetic Map	X	28.2	UniSTS
deCODE Assembly Map	X	30.31	UniSTS
Whitehead-RH Map	X	16.1	UniSTS
Whitehead-YAC Contig Map	X		UniSTS
NCBI RH Map	X	10.0	UniSTS

DXS8019

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	17,741,821 - 17,741,979	UniSTS	GRCh37
Build 36	X	17,651,742 - 17,651,900	RGD	NCBI36
Celera	X	21,861,139 - 21,861,298	RGD
Cytogenetic Map	X	p22.13	UniSTS
Cytogenetic Map	X	p22.2	UniSTS
HuRef	X	15,500,305 - 15,500,469	UniSTS
Marshfield Genetic Map	X	23.26	RGD
Marshfield Genetic Map	X	23.26	UniSTS
Genethon Genetic Map	X	28.3	UniSTS
deCODE Assembly Map	X	30.31	UniSTS
Whitehead-YAC Contig Map	X		UniSTS

DXS6747

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	17,696,326 - 17,696,531	UniSTS	GRCh37
Build 36	X	17,606,247 - 17,606,452	RGD	NCBI36
Celera	X	21,815,641 - 21,815,846	RGD
Cytogenetic Map	X	p22.13	UniSTS
Whitehead-YAC Contig Map	X		UniSTS

DXS418

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	17,745,117 - 17,745,597	UniSTS	GRCh37
GRCh37	X	17,741,818 - 17,741,961	UniSTS	GRCh37
Build 36	X	17,651,739 - 17,651,882	RGD	NCBI36
Celera	X	21,861,136 - 21,861,280	RGD
Celera	X	21,864,436 - 21,864,916	UniSTS
Cytogenetic Map	X	p22.13	UniSTS
HuRef	X	15,500,302 - 15,500,451	UniSTS
HuRef	X	15,503,626 - 15,504,106	UniSTS

RH93889

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	17,753,711 - 17,753,853	UniSTS	GRCh37
Build 36	X	17,663,632 - 17,663,774	RGD	NCBI36
Celera	X	21,873,029 - 21,873,171	RGD
Cytogenetic Map	X	p22	UniSTS
Cytogenetic Map	X	p22.13	UniSTS
HuRef	X	15,512,270 - 15,512,412	UniSTS
GeneMap99-GB4 RH Map	X	92.32	UniSTS

DXS43

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	16,219,269 - 16,219,355	UniSTS	GRCh37
GRCh37	X	16,229,336 - 16,229,560	UniSTS	GRCh37
GRCh37	X	16,228,828 - 16,229,569	UniSTS	GRCh37
Build 36	X	16,139,257 - 16,139,481	RGD	NCBI36
Celera	X	20,338,256 - 20,338,350	UniSTS
Celera	X	20,347,822 - 20,348,563	UniSTS
Celera	X	20,348,330 - 20,348,554	RGD
Cytogenetic Map	X	p22.13	UniSTS
HuRef	X	13,985,686 - 13,985,910	UniSTS
HuRef	X	13,985,182 - 13,985,919	UniSTS

DXS1317

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	17,466,043 - 17,466,109	UniSTS	GRCh37
Build 36	X	17,375,964 - 17,376,030	RGD	NCBI36
Celera	X	21,586,772 - 21,586,838	RGD
Cytogenetic Map	X	p22.13	UniSTS
HuRef	X	15,225,803 - 15,225,869	UniSTS

DXS7175

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	17,482,725 - 17,482,806	UniSTS	GRCh37
Build 36	X	17,392,646 - 17,392,727	RGD	NCBI36
Celera	X	21,603,363 - 21,603,444	RGD
Cytogenetic Map	X	p22.13	UniSTS
HuRef	X	15,242,205 - 15,242,286	UniSTS

RH119797

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	17,740,354 - 17,740,679	UniSTS	GRCh37
Build 36	X	17,650,275 - 17,650,600	RGD	NCBI36
Celera	X	21,859,672 - 21,859,997	RGD
Cytogenetic Map	X	p22.13	UniSTS
HuRef	X	15,498,843 - 15,499,168	UniSTS
TNG Radiation Hybrid Map	X	4954.0	UniSTS

DXS7993

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	17,569,250 - 17,569,353	UniSTS	GRCh37
Build 36	X	17,479,171 - 17,479,274	RGD	NCBI36
Celera	X	21,688,564 - 21,688,667	RGD
Cytogenetic Map	X	p22.13	UniSTS
HuRef	X	15,327,881 - 15,327,984	UniSTS

DXS8184

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	17,569,211 - 17,569,317	UniSTS	GRCh37
Build 36	X	17,479,132 - 17,479,238	RGD	NCBI36
Celera	X	21,688,525 - 21,688,631	RGD
Cytogenetic Map	X	p22.13	UniSTS
HuRef	X	15,327,842 - 15,327,948	UniSTS

DXS7991

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	17,465,839 - 17,466,105	UniSTS	GRCh37
Build 36	X	17,375,760 - 17,376,026	RGD	NCBI36
Celera	X	21,586,568 - 21,586,834	RGD
Cytogenetic Map	X	p22.13	UniSTS
HuRef	X	15,225,599 - 15,225,865	UniSTS
Whitehead-RH Map	X	5.5	UniSTS
Whitehead-YAC Contig Map	X		UniSTS
NCBI RH Map	X	10.0	UniSTS

DXS7661

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	17,621,313 - 17,621,462	UniSTS	GRCh37
Build 36	X	17,531,234 - 17,531,383	RGD	NCBI36
Celera	X	21,740,632 - 21,740,781	RGD
Cytogenetic Map	X	p22.13	UniSTS

DXS7174

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	17,610,343 - 17,610,555	UniSTS	GRCh37
Build 36	X	17,520,264 - 17,520,476	RGD	NCBI36
Celera	X	21,729,661 - 21,729,873	RGD
Cytogenetic Map	X	p22.13	UniSTS
HuRef	X	15,368,754 - 15,368,966	UniSTS

DXS7670

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	17,578,740 - 17,578,887	UniSTS	GRCh37
Build 36	X	17,488,661 - 17,488,808	RGD	NCBI36
Celera	X	21,698,055 - 21,698,202	RGD
Cytogenetic Map	X	p22.13	UniSTS
HuRef	X	15,337,455 - 15,337,602	UniSTS

L77751

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	17,447,141 - 17,447,305	UniSTS	GRCh37
Build 36	X	17,357,062 - 17,357,226	RGD	NCBI36
Celera	X	21,568,955 - 21,569,121	RGD
Cytogenetic Map	X	p22.13	UniSTS
HuRef	X	15,207,160 - 15,207,324	UniSTS

G09285

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	17,459,709 - 17,459,882	UniSTS	GRCh37
Build 36	X	17,369,630 - 17,369,803	RGD	NCBI36
Cytogenetic Map	X	p22.13	UniSTS
HuRef	X	15,219,496 - 15,219,669	UniSTS

DXS418

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	X	p22.13	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2426	2788	2231	4947	1706	2324	5	605	1445	447	2245	6785	5983	42	3730	1	851	1737	1606	175	1


RefSeq Transcripts	NG_011553	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001136024	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001291867	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001291868	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_198270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011545528	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047442140	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327129	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327130	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC122692	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK302437	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL034404	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL845433	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY436752	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY456992	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY456993	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY633488	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC136415	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC171763	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ017161	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX294650	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR749300	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR936788	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GQ988776	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF458989	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF458990	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF458991	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF458992	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF458993	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF458994	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF458995	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF458997	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF458998	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF458999	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF459000	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF459001	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF459002	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF459003	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF510657	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF510659	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF510660	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	MN817112	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z93022	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z93242	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000380060 ⟹ ENSP00000369400

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	17,375,420 - 17,735,994 (+)	Ensembl

Ensembl Acc Id:

ENST00000398097 ⟹ ENSP00000381170

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	17,635,293 - 17,735,978 (+)	Ensembl

Ensembl Acc Id:

ENST00000485305

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	17,719,263 - 17,724,370 (+)	Ensembl

Ensembl Acc Id:

ENST00000615422 ⟹ ENSP00000480113

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	17,686,782 - 17,735,978 (+)	Ensembl

Ensembl Acc Id:

ENST00000617601 ⟹ ENSP00000478433

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	17,635,293 - 17,735,991 (+)	Ensembl

Ensembl Acc Id:

ENST00000648929 ⟹ ENSP00000497676

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	17,656,139 - 17,687,894 (+)	Ensembl

Ensembl Acc Id:

ENST00000676302 ⟹ ENSP00000502262

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	17,375,200 - 17,735,994 (+)	Ensembl

Ensembl Acc Id:

ENST00000690213

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	17,720,094 - 17,725,930 (+)	Ensembl

Ensembl Acc Id:

ENST00000690608

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	17,725,150 - 17,732,108 (+)	Ensembl

RefSeq Acc Id:

NM_001136024 ⟹ NP_001129496

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	17,635,500 - 17,735,994 (+)	NCBI
GRCh37	X	17,393,357 - 17,754,114 (+)	NCBI
HuRef	X	15,153,213 - 15,512,673 (+)	ENTREZGENE
CHM1_1	X	17,683,802 - 17,784,494 (+)	NCBI
T2T-CHM13v2.0	X	17,218,104 - 17,318,610 (+)	NCBI

Sequence:

show sequence

GGCATTCAGAGACGTCTTTGCATAAAAGAAAAGGCCCTTCCTTAAGGAGCAGAGCGGGAATCCAAGCATGGCTCTGGCCTGCTGCATGCCCAAGAATGCAGCCGTCTCCAACCTGGACATAGAGAGTA
AGCTGAGTGTGTACTACCGCGCCCCGTGGCACCAGCAGCGCAACATCTTCCTCCCAGCCACAAGGCCACCCTGCGTGGAGGAGCTGCACCGCCACGCCCGGCAGAGCCTGCAAGCCCTGCGCAGAGAA
CACCGGAGCCGGAGCGATCGCCGAGAGCAAAGAGCAGCTGCCCCCCTTTCCATTGCAGCTCCTCCACTGCCAGCCTACCCTCCAGCTCACAGCCAGAGGAGGCGTGAGTTTAAGGACCGTCACTTTTT
AACGTTTAACAGCACCCGTTCGCCCTCCCCCACTGAATGTTGCCACATGACCCCGTGGAGTAGAAAGTCCCATCCCCCAGAGGATGAAGATACAGATGTCATGTTAGGGCAGAGGCCGAAAAACCCAA
TACACAATATCCCTTCCACACTGGACAAGCAGACCAACTGGAGCAAAGCACTACCTCTCCCGACGCCAGAGGAGAAGATGAAACAAGATGCCCAAGTGATTTCTTCTTGCATTATTCCCATCAATGTT
ACTGGAGTTGGCTTTGACAGAGAGGCTAGTATACGCTGCTCTCTGGTTCATTCACAATCGGTACTACAGCGGAGACGAAAATTGAGGAGGAGGAAAACCATCTCGGGTATCCCCAGAAGAGTTCAACA
AGAAATAGATTCTGATGAATCACCAGTGGCCAGGGAAAGGAATGTGATTGTGCACACAAACCCAGACCCCTCCAACACTGTCAATAGGATATCCGGAACCAGGGACTCTGAGTGCCAAACCGAGGATA
TTCTGATTGCTGCCCCATCCAGAAGGAGAATCAGAGCTCAAAGGGGTCAAAGCATTGCAGCTTCCCTTTCTCATTCTGCTGGCAACATTTCTGCCCTAGCAGACAAAGGTGACACCATGTTTACTCCT
GCAGTGAGCAGCCGCACAAGATCTCGGAGCCTTCCCCGGGAAGGTAATAGAGGTGGGGATGCTGAGCCCAAAGTTGGCGCTAAACCCTCAGCATATGAAGAGGGAGAGTCTTTTGTGGGTGACCATGA
AAGAACCCCTAATGATTTCAGTGAGGCTCCAAGCAGCCCGAGTGCCCAGGACCACCAGCCTACTTTGGGCCTGGCCTGCTCTCAACATCTTCACAGCCCCCAGCACAAATTAAGTGAGAGGGGAAGGT
CACGTCTGTCCCGAATGGCTGCTGACTCTGGCAGCTGTGACATCTCCTCCAACTCAGACACGTTTGGGAGCCCCATCCACTGCATCTCCACGGCTGGCGTCCTCCTTAGCAGCCACATGGACCAGAAA
GATGACCACCAGTCATCCAGTGGCAACTGGAGTGGGAGCAGCTCCACGTGCCCCTCGCAGACCTCAGAAACCATCCCTCCTGCAGCTTCTCCTCCACTCACTGGCTCTTCACACTGTGACTCGGAGTT
GTCACTAAACACAGCCCCTCATGCCAATGAGGATGCCAGTGTTTTCGTGACAGAGCAATACAATGACCACTTGGATAAAGTGAGAGGCCATCGGGCAAACTCCTTTACCTCCACTGTTGCAGACCTGC
TGGATGATCCCAACAACAGCAACACAAGTGACAGTGAGTGGAATTACCTACACCACCACCATGATGCCTCCTGCCGCCAGGATTTTAGTCCTGAGCGTCCCAAGGCAGACAGCCTGGGCTGCCCAAGC
TTCACAAGCATGGCCACTTATGACAGCTTTCTGGAAAAGTCTCCATCAGACAAAGCGGACACTAGCTCTCACTTTTCAGTAGACACGGAAGGATACTATACCTCCATGCACTTTGACTGTGGTCTCAA
AGGTAATAAGAGCTATGTCTGTCACTATGCAGCCCTGGGCCCAGAGAATGGCCAGGGTGTAGGGGCTTCCCCTGGTCTTCCAGATTGTGCCTGGCAGGACTACTTAGACCACAAGAGGCAGGGAAGAC
CAAGCATCTCTTTCAGGAAACCAAAGGCAAAGCCGACCCCACCTAAACGTAGCTCATCATTGAGGAAGTCTGATGGAAACGCAGATATTTCTGAGAAGAAAGAACCAAAGATAAGCAGTGGTCAGCAC
CTGCCTCACAGTTCCAGGGAAATGAAGCTGCCTCTTGATTTCGCCAACACGCCTTCTCGAATGGAAAACGCCAATCTTCCCACCAAGCAGGAACCTTCTTGGATAAACCAGAGTGAACAAGGCATTAA
GGAACCTCAGTTAGATGCTTCGGATATTCCACCATTCAAAGATGAAGTTGCCGAATCCACACACTATGCAGACCTCTGGCTCCTAAATGACTTGAAAACAAATGATCCTTATAGATCTCTATCTAATT
CAAGCACCGCTACGGGTACCACAGTCATTGAATGCATCAAATCTCCAGAGAGCTCTGAATCCCAAACATCACAATCAGAATCAAGAGCCACCACCCCATCTCTTCCTTCTGTTGACAATGAGTTTAAA
CTGGCTTCACCAGAAAAGCTGGCTGGCTTGGCATCTCCATCAAGTGGCTATTCAAGCCAGTCTGAAACGCCAACATCCTCTTTCCCTACAGCTTTCTTTTCAGGTCCATTGTCTCCCGGAGGTAGCAA
AAGAAAACCTAAAGTCCCAGAAAGAAAATCCTCACTACAGCAACCCTCTTTAAAAGATGGAACTATATCACTGAGTAAAGACCTTGAACTTCCAATTATACCTCCTACCCATCTTGATCTAAGTGCTC
TTCATAATGTCTTGAACAAACCATTCCACCACCGTCATCCACTGCATGTTTTTACTCATAATAAGCAGAACACAGTAGGAGAAACACTGAGGTCGAATCCTCCACCGTCCCTTGCAATTACACCAACG
ATCCTGAAATCTGTTAACCTTAGGTCCATCAACAAGTCTGAAGAAGTTAAGCAAAAAGAAGAAAACAATACAGATCTCCCTTATTTAGAGGAAAGCACACTCACAACGGCTGCCTTGTCTCCAAGTAA
GATTAGGCCGCATACAGCAAATAAATCAGTATCTCGTCAATACTCCACTGAAGACACCATACTGTCCTTTTTAGACTCTTCTGCAGTTGAGATGGGACCAGATAAACTACATTTAGAAAAAAACTCTA
CTTTTGATGTGAAGAATCGCTGCGATCCAGAAACCATAACATCAGCTGGTAGCAGTCTTCTAGATTCAAATGTCACAAAAGACCAAGTGCGTACAGAGACTGAGCCTATTCCAGAAAACACGCCAACC
AAAAACTGTGCTTTTCCCACAGAAGGATTTCAGAGGGTCTCTGCTGCCCGCCCAAATGATTTGGATGGTAAAATAATACAATATGGACCTGGTCCAGACGAAACTCTAGAACAGGTACAGAAGGCACC
CTCTGCAGGTCTGGAGGAAGTTGCACAACCTGAATCTGTGGATGTAATCACATCTCAGTCAGACTCACCAACTAGAGCAACAGATGTAAGCAATCAATTTAAGCATCAATTTGTTATGAGCCGCCACC
ATGACAAAGTGCCTGGTACTATCAGCTATGAATCGGAGATAACATCTGTAAATTCATTCCCTGAAAAATGTTCCAAGCAGGAAAATATTGCTTCAGGTATTTCAGCCAAAAGTGCCTCTGATAACAGC
AAAGCAGAGGAGACCCAAGGAAATGTGGATGAGGCTTCATTGAAAGAATCATCACCGAGTGATGACTCCATCATTTCACCACTTAGTGAAGACTCCCAAGCTGAAGCAGAGGGTGTGTTCGTGTCTCC
AAACAAACCTCGAACAACTGAGGATTTATTTGCAGTCATTCACAGATCCAAGAGGAAAGTACTTGGAAGAAAAGATTCCGGGGACATGTCTGTTCGAAGCAAATCGAGAGCTCCCCTCAGCAGTAGCA
GCAGCAGCGCCAGTTCCATCACTTCACCCAGCAGTAATGTGACAACCCCCAACAGCCAGAGGTCTCCTGGTCTCATATACCGAAATGCCAAAAAGTCCAACACATCCAATGAAGAGTTTAAGCTGTTA
CTGCTCAAGAAAGGCAGTCGCTCAGATTCTAGTTACCGCATGTCTGCCACTGAGATCCTGAAGAGCCCCATACTGCCCAAACCTCCTGGGGAGCTCACAGCAGAGTCCCCTCAGAGCACCGATGATGC
CCATCAGGGGTCACAAGGGGCTGAGGCATTGTCCCCACTCTCTCCATGCTCCCCACGAGTTAATGCAGAAGGCTTTTCCTCGAAGAGCTTTGCCACCTCAGCATCAGCAAGGGTTGGACGTTCTCGGG
CCCCTCCTGCAGCCAGCAGCAGCCGCTACAGTGTCCGCTGCCGGCTGTACAATACGCCCATGCAGGCAATCTCCGAGGGAGAGACGGAAAATTCTGACGGGAGCCCACATGACGACCGTTCCTCCCAG
AGTTCAACATAGACTGCCTGTACCAGGCTGCCTGGCAAAGGCCAAAACCCTTACTCACATGAGGATGGAGGAACAGAACAGAGGACTTGGGAAAAGTCTCAACTTGATGGGGTAGCATCACTGCTAAG
CAATGAATGAATTTCTAAATACAGTATGTGCTGGGTAAACAGAAAGTGGTTTAGACATTCTTGATTAGTTTCCATATTTTAAGTAGCTGCAGTCTTTCATGTTTTTCTTTAGCATAGTTTGATTTACG
CAATCTCCTTCCTTGTGAAAATAGAGGATACAAAATTGTCTAATTTTCATGACACCTAGAAAACGTTTTCCCAGAGCTGCCTATTCAGAAACTAAAGCCCTCACTGTCATTATTCTTTAAGAAGATGA
AATTACTCTGGATGTTTGGTATTTTTTTACATTAAAACAAACTAAAGCAAAATTTAGAAGAAAGAACTACACATATGTAAATACCATATTTTTGATAAAAATGTGTAAATAGATTTATCAATGATGAG
TGGACATGTGGTCAATTATCTACTGCACACCAACTGTTTATAGAATACACAAAAATAAAATGTAATAACTGTATTCTGTGAATACCATTTTCATATCAAATGCCATATTTAAATGTCCACCAATATGA
TTTCTGAGTGGTAAACCTCAAATATGAATTTTAAACTGGTGAACTAAAGGAAATCTTGAGGTCATATACTGAAATATGAATAAATTAAAATAATGAATTCAGATCTAATCATTTTTATGACAAATTGC
AGCACCAAACAAACTAATAGCAACCCATGGCTGTGATTTGTTGTGTGGTAATTTGGACAGAATGAAAAGCATGCTTTTGATTTTTTTTTTAATCAGTGAGAGAAGTCATCATTCTCAACACAAAGCCC
TGAACAACAGCATTTGACAGTGTCCTTTAGATTTTAATTTTTTCAATGGATTGCTTTAAAGAGAATGAGTAGGGAAAATAGTAGTTAATTTTAGGTTATGTTTTATATTAGGCTACTGGGGACATAAA
CGGTCATAACTAATGACTGTAATCATTAAACTCCTTAAACAGTTTAGAAATTAGCTCCAGGTTCTTAAACTAACAAAAATAAAACCTAAGCATGCCACAGAGCTATTGATTAATCAGTAAGTACCTGT
AATGAGTTTTCAGTGAAGCTTTCTCTCTGTGCTGATGAGATTCATGCTACCTAAAAATTAACAGAAATGACACTGTGAACAATGTAGTTGGAAAATAGGTATGTGTATATGCATTATTTATACTCATT
GTTAAACTGGGAATGGGGAACAGCTCTGGTTCACAATACTACATACAACTGAGTTTTTGTCTGGTTTTACTATAGTGTCTGCTTGATGGCAAAAGGGGAGGGTGGAGGGTGGGAGAGGAAATGTCAGG
GCATGTGCTCTGATAAAATAAAGGCAGGGAAACAAGCTGAATTACTTGAAATTACTTGAATTTTCTTGTCTTAAAACTGAAAAAAAAATGTAGTTACACGTTAAAATCTGCAAATGGTTTTTACACCT
CTGATTTTAACATGAACTTATACTAATGTTTGGAATCTTATGTCAGAAATATAAGCAGCTATGTACTTAGAATAGGTTTTGAATGGGAGAGGTAGAACAGAGAGAGAATTAAGAAGGGATCTGACTTA
TAAAAGACTAGAATGTGATTAGAGTGATAGAACATACCAATGTTACCAAGAAATTGACAAGCTGCTGGCTTTAAGCTTATGCAAGTGGTAGTTGGGAAAGTAGGAGGTGTGGAAGAGGGTTTGCATTT
TGGATTAATTCATGCAAAATGAAGGAGGAAGCCTGGTCTAAGAAGATACTGTCTTTCAATAGAAATGATTTCTAAACTGCTACAGATTAAGAATAGATAATCTGATTGCTGTTGTTTTGTTTGTTTGG
AAAGAAAAAAAATGTCTGGCTTCTTCTACTATTTGTTTTCACTACCAAACTGTGTTACTAAATTTCTTGTCATCCTTGTATGTAAAATGGGTGCTGGGGGTGGAGGGGTATAAGAGGAGGGAGAGTCA
GAGAGAGTGTGTATGGGTGTGTGTGAGTGTGAGTGTGTGTGTACGCACACACACTGGGGATAGATAAGCTACCTGGTAAAGGGTTTGAACATTTACAAAATGTCACACTTTTTCTTAAAAGAAAAATA
TTTTGGGGTTTGAATAAAATGGACCACCATTTCTCATTGGAACCCATTAATTAAGAAAACCAGCATGGTTTGACACCACATGGGAACATGAATAAATCTGTCTCATGATTTGAAAAGTACACCTTGCA
AAGTTTTAAAAATAAAGTTTTTAGGCAAATGCGATAAGAAACCGTCATTTCCAGTCACAGTAGGCGATCTTTCGTAATTTCATAAAAGCAGTTCGTTTGCAGTATGGCTTTTGTGTAGTTAGGGGTTT
TTTAAGTGTGAAGAAAGGTATGTGGGCTTTAAAAGTGATTCTAAATCTTGAATAGAAAACACATGAATTGGCTTTAATAAAAATGTCACCTTTTTATTATTGACATTAAGTAATGGTACCATATATTT
TTTAAAATACATATTGACTTGAATTGTGAGGCAATAAGATACCTTCTATATGTAATGATCACAGAACTAACCCTTATAATATAGTTTTACTTATTTTGTTTACTCTAAAAATCTATAGCAGAGTTTCT
CTATTTTATATTTCATAGATTTAAAAAACCCAAATAAAGATGGATTTAAAATTCACTGTGGAAAAGAGTATTGAGTTACAAACTGAGAAGAAAAAGCAGGAAGTTCCCTAATAATCTGGAATATTCTA
CATGGCTTGATTACATAGCAAACAAGACCAAGATTTAGGGCTGTCTTTAACATCACTGCCGTCTTGAAGCAGGGTACACACGTTAGGTATTGTGAAGAACATCAATCCGAACTTTTCTTCTGTTGTTT
GCACTGATGCGATTTTTTGTTCTTTTATGTTTATACAACGTATCTATGTTGTGTAGGGGAAATTTTTTCATTTTTTAAAAATTCTACTTTGGTTTTGTTGTTGTTTTGATTTGTTTTTGGCTAAGTAG
AGGACATGGACTAGTTGTAGCAAACAGAACATGCTGTTTGCTCTTGCCAAAGGTCAGTGAGTGAGTGCATTTGCTGCAGTGGTGGCACGTAGAGAACTAGATGGTAATAAAGATTTAAAACTATGAAG
AAGGTTACAGTGTAACTATTTTGGTACTAGAACCAGTTCATGCTGGCCGAAACGACAATGGTTTATGGACTTGCATCCATTTTGTATTTTTGTAATATTTGTAAATATGAACTTTTTAAATTGCTGCA
AAGATGGTTTCTTTTGTAAGATGTTTTCAACGTTTACATTCAATCCAAGCCTTTGTATATTTTAGAGCTGTGCAACACTTTAAGTCTTGTATTTATTTTTAGTAAAAATGGTGACAGTTTCATTGTGA
ACCCCTCTCAAAAAAAATGTATCAGAAAAGTTTGATTACCTAGAAAGTGTGTATAGAAACTGCAAATAAACGTGACTGCAATTAAA

hide sequence

RefSeq Acc Id:

NM_001291867 ⟹ NP_001278796

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	17,375,200 - 17,735,994 (+)	NCBI
CHM1_1	X	17,424,184 - 17,784,494 (+)	NCBI
T2T-CHM13v2.0	X	16,957,799 - 17,318,610 (+)	NCBI

Sequence:

show sequence

AGAGCGCCTTTCCGAAACCTCCTCCCCGCCCAGCCAGGGAGAGAGATCCCGGGCGCAATCGCTCCCCGGAGCGGCCGAGGGGCGCGCGGGGAGAGGCCTGCGCCGGGGTACTTTCAAACTGAGGCGCG
CGCACACACTCACACCCACCCACCCACTCACCCACACACACACAGACACACGCACGCCCATTTATATAGGCGGCGGCGACGGCAGTGGCCGGGGTGGCGACGGCGAGCACAGAAACGATGGAGTTGAG
CCAGTCGACCCTGGTTGGAAGCAAGTGAGAAGAGACCAGGCGCACCCCTAAATTTCTGTGCGGAGCGCTTGTCATCCTCCCCAGGGAACGGTGCACCCAAAGGAGGACTGGCTGGACTGATTTGCTAG
GGAGAGGGCGGGGAAGAGGAGGCAAGGTGAGCAGAGAAGCCCCCTGCGTATCCGGACTGCCAGATCGCGCTTTTGCCGGACTCCTGCCCCCTCCCTGCTCAGGTGGGCGCGCCCGGTCTCCAGCTCAC
AGGGGCGCTTGGAGGAGACCAGAAAGTCGCCGCCTGGCTGCGCGGGATGCCTTTCGCCAAGCGGATCGTGGAGCCGCAATGGCTGTGCAGGCAGCGGCGCCCTGCGCCCGGCCCAGCAGTGGACGCGA
GCGGAGGCAGCGCTGAGCCGCCGCCGCCCTTGCAGCCGCCGGGCCGGAGGGACCTGGACGAGGTCGAGGCGCCAGGGCCAGAGGAGCCAGCCCGCGCCGTCCCTGCACCTTCAGGGCTGCCACCGCCG
CCGCCGCCACTGCCCGCGCCGGCCGACCAGACTCAGCCGCCGCACGGAGAGGCGTCCGTGGCTGGCGAGGAGAGCACGGCGGGGATCCCGGAGGCGGCGCCCGCAGCCGGCGAGGCGTCCTCGGCGGC
GGCGGCGGCGGCCGTGCTGCTCATGCTGGACCTATGCGCGGTCAGCAACGCCGCTCTGGCCCGTGTCCTCCGGCAGCTCTCGGACGTGGCCCGGCACGCTTGCAGCCTCTTCCAGGAGCTCGAGAGCG
ACATCCAGCTCACCCACCGCCGCGTCTGGGCGCTGCAGGGCAAGCTCGGCGGCGTGCAGCGCGTCCTCAGCACGCTTGACCCTAAGCAGGAGGCAGTGCCCGTCTCCAACCTGGACATAGAGAGTAAG
CTGAGTGTGTACTACCGCGCCCCGTGGCACCAGCAGCGCAACATCTTCCTCCCAGCCACAAGGCCACCCTGCGTGGAGGAGCTGCACCGCCACGCCCGGCAGAGCCTGCAAGCCCTGCGCAGAGAACA
CCGGAGCCGGAGCGATCGCCGAGAGCAAAGAGCAGCTGCCCCCCTTTCCATTGCAGCTCCTCCACTGCCAGCCTACCCTCCAGCTCACAGCCAGAGGAGGCGTGAGTTTAAGGACCGTCACTTTTTAA
CGTTTAACAGCACCCGTTCGCCCTCCCCCACTGAATGTTGCCACATGACCCCGTGGAGTAGAAAGTCCCATCCCCCAGAGGATGAAGATACAGATGTCATGTTAGGGCAGAGGCCGAAAAACCCAATA
CACAATATCCCTTCCACACTGGACAAGCAGACCAACTGGAGCAAAGCACTACCTCTCCCGACGCCAGAGGAGAAGATGAAACAAGATGCCCAAGTGATTTCTTCTTGCATTATTCCCATCAATGTTAC
TGGAGTTGGCTTTGACAGAGAGGCTAGTATACGCTGCTCTCTGGTTCATTCACAATCGGTACTACAGCGGAGACGAAAATTGAGGAGGAGGAAAACCATCTCGGGTATCCCCAGAAGAGTTCAACAAG
AAATAGATTCTGATGAATCACCAGTGGCCAGGGAAAGGAATGTGATTGTGCACACAAACCCAGACCCCTCCAACACTGTCAATAGGATATCCGGAACCAGGGACTCTGAGTGCCAAACCGAGGATATT
CTGATTGCTGCCCCATCCAGAAGGAGAATCAGAGCTCAAAGGGGTCAAAGCATTGCAGCTTCCCTTTCTCATTCTGCTGGCAACATTTCTGCCCTAGCAGACAAAGGTGACACCATGTTTACTCCTGC
AGTGAGCAGCCGCACAAGATCTCGGAGCCTTCCCCGGGAAGGTAATAGAGGTGGGGATGCTGAGCCCAAAGTTGGCGCTAAACCCTCAGCATATGAAGAGGGAGAGTCTTTTGTGGGTGACCATGAAA
GAACCCCTAATGATTTCAGTGAGGCTCCAAGCAGCCCGAGTGCCCAGGACCACCAGCCTACTTTGGGCCTGGCCTGCTCTCAACATCTTCACAGCCCCCAGCACAAATTAAGTGAGAGGGGAAGGTCA
CGTCTGTCCCGAATGGCTGCTGACTCTGGCAGCTGTGACATCTCCTCCAACTCAGACACGTTTGGGAGCCCCATCCACTGCATCTCCACGGCTGGCGTCCTCCTTAGCAGCCACATGGACCAGAAAGA
TGACCACCAGTCATCCAGTGGCAACTGGAGTGGGAGCAGCTCCACGTGCCCCTCGCAGACCTCAGAAACCATCCCTCCTGCAGCTTCTCCTCCACTCACTGGCTCTTCACACTGTGACTCGGAGTTGT
CACTAAACACAGCCCCTCATGCCAATGAGGATGCCAGTGTTTTCGTGACAGAGCAATACAATGACCACTTGGATAAAGTGAGAGGCCATCGGGCAAACTCCTTTACCTCCACTGTTGCAGACCTGCTG
GATGATCCCAACAACAGCAACACAAGTGACAGTGAGTGGAATTACCTACACCACCACCATGATGCCTCCTGCCGCCAGGATTTTAGTCCTGAGCGTCCCAAGGCAGACAGCCTGGGCTGCCCAAGCTT
CACAAGCATGGCCACTTATGACAGCTTTCTGGAAAAGTCTCCATCAGACAAAGCGGACACTAGCTCTCACTTTTCAGTAGACACGGAAGGATACTATACCTCCATGCACTTTGACTGTGGTCTCAAAG
GTAATAAGAGCTATGTCTGTCACTATGCAGCCCTGGGCCCAGAGAATGGCCAGGGTGTAGGGGCTTCCCCTGGTCTTCCAGATTGTGCCTGGCAGGACTACTTAGACCACAAGAGGCAGGGAAGACCA
AGCATCTCTTTCAGGAAACCAAAGGCAAAGCCGACCCCACCTAAACGTAGCTCATCATTGAGGAAGTCTGATGGAAACGCAGATATTTCTGAGAAGAAAGAACCAAAGATAAGCAGTGGTCAGCACCT
GCCTCACAGTTCCAGGGAAATGAAGCTGCCTCTTGATTTCGCCAACACGCCTTCTCGAATGGAAAACGCCAATCTTCCCACCAAGCAGGAACCTTCTTGGATAAACCAGAGTGAACAAGGCATTAAGG
AACCTCAGTTAGATGCTTCGGATATTCCACCATTCAAAGATGAAGTTGCCGAATCCACACACTATGCAGACCTCTGGCTCCTAAATGACTTGAAAACAAATGATCCTTATAGATCTCTATCTAATTCA
AGCACCGCTACGGGTACCACAGTCATTGAATGCATCAAATCTCCAGAGAGCTCTGAATCCCAAACATCACAATCAGAATCAAGAGCCACCACCCCATCTCTTCCTTCTGTTGACAATGAGTTTAAACT
GGCTTCACCAGAAAAGCTGGCTGGCTTGGCATCTCCATCAAGTGGCTATTCAAGCCAGTCTGAAACGCCAACATCCTCTTTCCCTACAGCTTTCTTTTCAGGTCCATTGTCTCCCGGAGGTAGCAAAA
GAAAACCTAAAGTCCCAGAAAGAAAATCCTCACTACAGCAACCCTCTTTAAAAGATGGAACTATATCACTGAGTAAAGACCTTGAACTTCCAATTATACCTCCTACCCATCTTGATCTAAGTGCTCTT
CATAATGTCTTGAACAAACCATTCCACCACCGTCATCCACTGCATGTTTTTACTCATAATAAGCAGAACACAGTAGGAGAAACACTGAGGTCGAATCCTCCACCGTCCCTTGCAATTACACCAACGAT
CCTGAAATCTGTTAACCTTAGGTCCATCAACAAGTCTGAAGAAGTTAAGCAAAAAGAAGAAAACAATACAGATCTCCCTTATTTAGAGGAAAGCACACTCACAACGGCTGCCTTGTCTCCAAGTAAGA
TTAGGCCGCATACAGCAAATAAATCAGTATCTCGTCAATACTCCACTGAAGACACCATACTGTCCTTTTTAGACTCTTCTGCAGTTGAGATGGGACCAGATAAACTACATTTAGAAAAAAACTCTACT
TTTGATGTGAAGAATCGCTGCGATCCAGAAACCATAACATCAGCTGGTAGCAGTCTTCTAGATTCAAATGTCACAAAAGACCAAGTGCGTACAGAGACTGAGCCTATTCCAGAAAACACGCCAACCAA
AAACTGTGCTTTTCCCACAGAAGGATTTCAGAGGGTCTCTGCTGCCCGCCCAAATGATTTGGATGGTAAAATAATACAATATGGACCTGGTCCAGACGAAACTCTAGAACAGGTACAGAAGGCACCCT
CTGCAGGTCTGGAGGAAGTTGCACAACCTGAATCTGTGGATGTAATCACATCTCAGTCAGACTCACCAACTAGAGCAACAGATGTAAGCAATCAATTTAAGCATCAATTTGTTATGAGCCGCCACCAT
GACAAAGTGCCTGGTACTATCAGCTATGAATCGGAGATAACATCTGTAAATTCATTCCCTGAAAAATGTTCCAAGCAGGAAAATATTGCTTCAGGTATTTCAGCCAAAAGTGCCTCTGATAACAGCAA
AGCAGAGGAGACCCAAGGAAATGTGGATGAGGCTTCATTGAAAGAATCATCACCGAGTGATGACTCCATCATTTCACCACTTAGTGAAGACTCCCAAGCTGAAGCAGAGGGTGTGTTCGTGTCTCCAA
ACAAACCTCGAACAACTGAGGATTTATTTGCAGTCATTCACAGATCCAAGAGGAAAGTACTTGGAAGAAAAGATTCCGGGGACATGTCTGTTCGAAGCAAATCGAGAGCTCCCCTCAGCAGTAGCAGC
AGCAGCGCCAGTTCCATCACTTCACCCAGCAGTAATGTGACAACCCCCAACAGCCAGAGGTCTCCTGGTCTCATATACCGAAATGCCAAAAAGTCCAACACATCCAATGAAGAGTTTAAGCTGTTACT
GCTCAAGAAAGGCAGTCGCTCAGATTCTAGTTACCGCATGTCTGCCACTGAGATCCTGAAGAGCCCCATACTGCCCAAACCTCCTGGGGAGCTCACAGCAGAGTCCCCTCAGAGCACCGATGATGCCC
ATCAGGGGTCACAAGGGGCTGAGGCATTGTCCCCACTCTCTCCATGCTCCCCACGAGTTAATGCAGAAGGCTTTTCCTCGAAGAGCTTTGCCACCTCAGCATCAGCAAGGGTTGGACGTTCTCGGGCC
CCTCCTGCAGCCAGCAGCAGCCGCTACAGTGTCCGCTGCCGGCTGTACAATACGCCCATGCAGGCAATCTCCGAGGGAGAGACGGAAAATTCTGACGGGAGCCCACATGACGACCGTTCCTCCCAGAG
TTCAACATAGACTGCCTGTACCAGGCTGCCTGGCAAAGGCCAAAACCCTTACTCACATGAGGATGGAGGAACAGAACAGAGGACTTGGGAAAAGTCTCAACTTGATGGGGTAGCATCACTGCTAAGCA
ATGAATGAATTTCTAAATACAGTATGTGCTGGGTAAACAGAAAGTGGTTTAGACATTCTTGATTAGTTTCCATATTTTAAGTAGCTGCAGTCTTTCATGTTTTTCTTTAGCATAGTTTGATTTACGCA
ATCTCCTTCCTTGTGAAAATAGAGGATACAAAATTGTCTAATTTTCATGACACCTAGAAAACGTTTTCCCAGAGCTGCCTATTCAGAAACTAAAGCCCTCACTGTCATTATTCTTTAAGAAGATGAAA
TTACTCTGGATGTTTGGTATTTTTTTACATTAAAACAAACTAAAGCAAAATTTAGAAGAAAGAACTACACATATGTAAATACCATATTTTTGATAAAAATGTGTAAATAGATTTATCAATGATGAGTG
GACATGTGGTCAATTATCTACTGCACACCAACTGTTTATAGAATACACAAAAATAAAATGTAATAACTGTATTCTGTGAATACCATTTTCATATCAAATGCCATATTTAAATGTCCACCAATATGATT
TCTGAGTGGTAAACCTCAAATATGAATTTTAAACTGGTGAACTAAAGGAAATCTTGAGGTCATATACTGAAATATGAATAAATTAAAATAATGAATTCAGATCTAATCATTTTTATGACAAATTGCAG
CACCAAACAAACTAATAGCAACCCATGGCTGTGATTTGTTGTGTGGTAATTTGGACAGAATGAAAAGCATGCTTTTGATTTTTTTTTTAATCAGTGAGAGAAGTCATCATTCTCAACACAAAGCCCTG
AACAACAGCATTTGACAGTGTCCTTTAGATTTTAATTTTTTCAATGGATTGCTTTAAAGAGAATGAGTAGGGAAAATAGTAGTTAATTTTAGGTTATGTTTTATATTAGGCTACTGGGGACATAAACG
GTCATAACTAATGACTGTAATCATTAAACTCCTTAAACAGTTTAGAAATTAGCTCCAGGTTCTTAAACTAACAAAAATAAAACCTAAGCATGCCACAGAGCTATTGATTAATCAGTAAGTACCTGTAA
TGAGTTTTCAGTGAAGCTTTCTCTCTGTGCTGATGAGATTCATGCTACCTAAAAATTAACAGAAATGACACTGTGAACAATGTAGTTGGAAAATAGGTATGTGTATATGCATTATTTATACTCATTGT
TAAACTGGGAATGGGGAACAGCTCTGGTTCACAATACTACATACAACTGAGTTTTTGTCTGGTTTTACTATAGTGTCTGCTTGATGGCAAAAGGGGAGGGTGGAGGGTGGGAGAGGAAATGTCAGGGC
ATGTGCTCTGATAAAATAAAGGCAGGGAAACAAGCTGAATTACTTGAAATTACTTGAATTTTCTTGTCTTAAAACTGAAAAAAAAATGTAGTTACACGTTAAAATCTGCAAATGGTTTTTACACCTCT
GATTTTAACATGAACTTATACTAATGTTTGGAATCTTATGTCAGAAATATAAGCAGCTATGTACTTAGAATAGGTTTTGAATGGGAGAGGTAGAACAGAGAGAGAATTAAGAAGGGATCTGACTTATA
AAAGACTAGAATGTGATTAGAGTGATAGAACATACCAATGTTACCAAGAAATTGACAAGCTGCTGGCTTTAAGCTTATGCAAGTGGTAGTTGGGAAAGTAGGAGGTGTGGAAGAGGGTTTGCATTTTG
GATTAATTCATGCAAAATGAAGGAGGAAGCCTGGTCTAAGAAGATACTGTCTTTCAATAGAAATGATTTCTAAACTGCTACAGATTAAGAATAGATAATCTGATTGCTGTTGTTTTGTTTGTTTGGAA
AGAAAAAAAATGTCTGGCTTCTTCTACTATTTGTTTTCACTACCAAACTGTGTTACTAAATTTCTTGTCATCCTTGTATGTAAAATGGGTGCTGGGGGTGGAGGGGTATAAGAGGAGGGAGAGTCAGA
GAGAGTGTGTATGGGTGTGTGTGAGTGTGAGTGTGTGTGTACGCACACACACTGGGGATAGATAAGCTACCTGGTAAAGGGTTTGAACATTTACAAAATGTCACACTTTTTCTTAAAAGAAAAATATT
TTGGGGTTTGAATAAAATGGACCACCATTTCTCATTGGAACCCATTAATTAAGAAAACCAGCATGGTTTGACACCACATGGGAACATGAATAAATCTGTCTCATGATTTGAAAAGTACACCTTGCAAA
GTTTTAAAAATAAAGTTTTTAGGCAAATGCGATAAGAAACCGTCATTTCCAGTCACAGTAGGCGATCTTTCGTAATTTCATAAAAGCAGTTCGTTTGCAGTATGGCTTTTGTGTAGTTAGGGGTTTTT
TAAGTGTGAAGAAAGGTATGTGGGCTTTAAAAGTGATTCTAAATCTTGAATAGAAAACACATGAATTGGCTTTAATAAAAATGTCACCTTTTTATTATTGACATTAAGTAATGGTACCATATATTTTT
TAAAATACATATTGACTTGAATTGTGAGGCAATAAGATACCTTCTATATGTAATGATCACAGAACTAACCCTTATAATATAGTTTTACTTATTTTGTTTACTCTAAAAATCTATAGCAGAGTTTCTCT
ATTTTATATTTCATAGATTTAAAAAACCCAAATAAAGATGGATTTAAAATTCACTGTGGAAAAGAGTATTGAGTTACAAACTGAGAAGAAAAAGCAGGAAGTTCCCTAATAATCTGGAATATTCTACA
TGGCTTGATTACATAGCAAACAAGACCAAGATTTAGGGCTGTCTTTAACATCACTGCCGTCTTGAAGCAGGGTACACACGTTAGGTATTGTGAAGAACATCAATCCGAACTTTTCTTCTGTTGTTTGC
ACTGATGCGATTTTTTGTTCTTTTATGTTTATACAACGTATCTATGTTGTGTAGGGGAAATTTTTTCATTTTTTAAAAATTCTACTTTGGTTTTGTTGTTGTTTTGATTTGTTTTTGGCTAAGTAGAG
GACATGGACTAGTTGTAGCAAACAGAACATGCTGTTTGCTCTTGCCAAAGGTCAGTGAGTGAGTGCATTTGCTGCAGTGGTGGCACGTAGAGAACTAGATGGTAATAAAGATTTAAAACTATGAAGAA
GGTTACAGTGTAACTATTTTGGTACTAGAACCAGTTCATGCTGGCCGAAACGACAATGGTTTATGGACTTGCATCCATTTTGTATTTTTGTAATATTTGTAAATATGAACTTTTTAAATTGCTGCAAA
GATGGTTTCTTTTGTAAGATGTTTTCAACGTTTACATTCAATCCAAGCCTTTGTATATTTTAGAGCTGTGCAACACTTTAAGTCTTGTATTTATTTTTAGTAAAAATGGTGACAGTTTCATTGTGAAC
CCCTCTCAAAAAAAATGTATCAGAAAAGTTTGATTACCTAGAAAGTGTGTATAGAAACTGCAAATAAACGTGACTGCAATTAAA

hide sequence

RefSeq Acc Id:

NM_001291868 ⟹ NP_001278797

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	17,635,500 - 17,735,994 (+)	NCBI
CHM1_1	X	17,683,802 - 17,784,494 (+)	NCBI
T2T-CHM13v2.0	X	17,218,104 - 17,318,610 (+)	NCBI

Sequence:

show sequence

GGCATTCAGAGACGTCTTTGCATAAAAGAAAAGGCCCTTCCTTAAGGAGCAGAGCGGGAATCCAAGCATGGCTCTGGCCTGCTGCATGCCCAAGAATGCAGCCGTCTCCAACCTGGACATAGAGAGTA
AGCTGAGTGTGTACTACCGCGCCCCGTGGCACCAGCAGCGCAACATCTTCCTCCCAGCCACAAGGCCACCCTGCGTGGAGGAGCTGCACCGCCACGCCCGGCAGAGCCTGCAAGCCCTGCGCAGAGAA
CACCGGAGCCGGAGCGATCGCCGAGAGCAAAGAGCAGCTGCCCCCCTTTCCATTGCAGCTCCTCCACTGCCAGCCTACCCTCCAGCTCACAGCCAGAGGAGGCGTGAGTTTAAGGACCGTCACTTTTT
AACGTCCCATCCCCCAGAGGATGAAGATACAGATGTCATGTTAGGGCAGAGGCCGAAAAACCCAATACACAATATCCCTTCCACACTGGACAAGCAGACCAACTGGAGCAAAGCACTACCTCTCCCGA
CGCCAGAGGAGAAGATGAAACAAGATGCCCAAGTGATTTCTTCTTGCATTATTCCCATCAATGTTACTGGAGTTGGCTTTGACAGAGAGGCTAGTATACGCTGCTCTCTGGTTCATTCACAATCGGTA
CTACAGCGGAGACGAAAATTGAGGAGGAGGAAAACCATCTCGGGTATCCCCAGAAGAGTTCAACAAGAAATAGATTCTGATGAATCACCAGTGGCCAGGGAAAGGAATGTGATTGTGCACACAAACCC
AGACCCCTCCAACACTGTCAATAGGATATCCGGAACCAGGGACTCTGAGTGCCAAACCGAGGATATTCTGATTGCTGCCCCATCCAGAAGGAGAATCAGAGCTCAAAGGGGTCAAAGCATTGCAGCTT
CCCTTTCTCATTCTGCTGGCAACATTTCTGCCCTAGCAGACAAAGGTGACACCATGTTTACTCCTGCAGTGAGCAGCCGCACAAGATCTCGGAGCCTTCCCCGGGAAGGTAATAGAGGTGGGGATGCT
GAGCCCAAAGTTGGCGCTAAACCCTCAGCATATGAAGAGGGAGAGTCTTTTGTGGGTGACCATGAAAGAACCCCTAATGATTTCAGTGAGGCTCCAAGCAGCCCGAGTGCCCAGGACCACCAGCCTAC
TTTGGGCCTGGCCTGCTCTCAACATCTTCACAGCCCCCAGCACAAATTAAGTGAGAGGGGAAGGTCACGTCTGTCCCGAATGGCTGCTGACTCTGGCAGCTGTGACATCTCCTCCAACTCAGACACGT
TTGGGAGCCCCATCCACTGCATCTCCACGGCTGGCGTCCTCCTTAGCAGCCACATGGACCAGAAAGATGACCACCAGTCATCCAGTGGCAACTGGAGTGGGAGCAGCTCCACGTGCCCCTCGCAGACC
TCAGAAACCATCCCTCCTGCAGCTTCTCCTCCACTCACTGGCTCTTCACACTGTGACTCGGAGTTGTCACTAAACACAGCCCCTCATGCCAATGAGGATGCCAGTGTTTTCGTGACAGAGCAATACAA
TGACCACTTGGATAAAGTGAGAGGCCATCGGGCAAACTCCTTTACCTCCACTGTTGCAGACCTGCTGGATGATCCCAACAACAGCAACACAAGTGACAGTGAGTGGAATTACCTACACCACCACCATG
ATGCCTCCTGCCGCCAGGATTTTAGTCCTGAGCGTCCCAAGGCAGACAGCCTGGGCTGCCCAAGCTTCACAAGCATGGCCACTTATGACAGCTTTCTGGAAAAGTCTCCATCAGACAAAGCGGACACT
AGCTCTCACTTTTCAGTAGACACGGAAGGATACTATACCTCCATGCACTTTGACTGTGGTCTCAAAGGTAATAAGAGCTATGTCTGTCACTATGCAGCCCTGGGCCCAGAGAATGGCCAGGGTGTAGG
GGCTTCCCCTGGTCTTCCAGATTGTGCCTGGCAGGACTACTTAGACCACAAGAGGCAGGGAAGACCAAGCATCTCTTTCAGGAAACCAAAGGCAAAGCCGACCCCACCTAAACGTAGCTCATCATTGA
GGAAGTCTGATGGAAACGCAGATATTTCTGAGAAGAAAGAACCAAAGATAAGCAGTGGTCAGCACCTGCCTCACAGTTCCAGGGAAATGAAGCTGCCTCTTGATTTCGCCAACACGCCTTCTCGAATG
GAAAACGCCAATCTTCCCACCAAGCAGGAACCTTCTTGGATAAACCAGAGTGAACAAGGCATTAAGGAACCTCAGTTAGATGCTTCGGATATTCCACCATTCAAAGATGAAGTTGCCGAATCCACACA
CTATGCAGACCTCTGGCTCCTAAATGACTTGAAAACAAATGATCCTTATAGATCTCTATCTAATTCAAGCACCGCTACGGGTACCACAGTCATTGAATGCATCAAATCTCCAGAGAGCTCTGAATCCC
AAACATCACAATCAGAATCAAGAGCCACCACCCCATCTCTTCCTTCTGTTGACAATGAGTTTAAACTGGCTTCACCAGAAAAGCTGGCTGGCTTGGCATCTCCATCAAGTGGCTATTCAAGCCAGTCT
GAAACGCCAACATCCTCTTTCCCTACAGCTTTCTTTTCAGGTCCATTGTCTCCCGGAGGTAGCAAAAGAAAACCTAAAGTCCCAGAAAGAAAATCCTCACTACAGCAACCCTCTTTAAAAGATGGAAC
TATATCACTGAGTAAAGACCTTGAACTTCCAATTATACCTCCTACCCATCTTGATCTAAGTGCTCTTCATAATGTCTTGAACAAACCATTCCACCACCGTCATCCACTGCATGTTTTTACTCATAATA
AGCAGAACACAGTAGGAGAAACACTGAGGTCGAATCCTCCACCGTCCCTTGCAATTACACCAACGATCCTGAAATCTGTTAACCTTAGGTCCATCAACAAGTCTGAAGAAGTTAAGCAAAAAGAAGAA
AACAATACAGATCTCCCTTATTTAGAGGAAAGCACACTCACAACGGCTGCCTTGTCTCCAAGTAAGATTAGGCCGCATACAGCAAATAAATCAGTATCTCGTCAATACTCCACTGAAGACACCATACT
GTCCTTTTTAGACTCTTCTGCAGTTGAGATGGGACCAGATAAACTACATTTAGAAAAAAACTCTACTTTTGATGTGAAGAATCGCTGCGATCCAGAAACCATAACATCAGCTGGTAGCAGTCTTCTAG
ATTCAAATGTCACAAAAGACCAAGTGCGTACAGAGACTGAGCCTATTCCAGAAAACACGCCAACCAAAAACTGTGCTTTTCCCACAGAAGGATTTCAGAGGGTCTCTGCTGCCCGCCCAAATGATTTG
GATGGTAAAATAATACAATATGGACCTGGTCCAGACGAAACTCTAGAACAGGTACAGAAGGCACCCTCTGCAGGTCTGGAGGAAGTTGCACAACCTGAATCTGTGGATGTAATCACATCTCAGTCAGA
CTCACCAACTAGAGCAACAGATGTAAGCAATCAATTTAAGCATCAATTTGTTATGAGCCGCCACCATGACAAAGTGCCTGGTACTATCAGCTATGAATCGGAGATAACATCTGTAAATTCATTCCCTG
AAAAATGTTCCAAGCAGGAAAATATTGCTTCAGGTATTTCAGCCAAAAGTGCCTCTGATAACAGCAAAGCAGAGGAGACCCAAGGAAATGTGGATGAGGCTTCATTGAAAGAATCATCACCGAGTGAT
GACTCCATCATTTCACCACTTAGTGAAGACTCCCAAGCTGAAGCAGAGGGTGTGTTCGTGTCTCCAAACAAACCTCGAACAACTGAGGATTTATTTGCAGTCATTCACAGATCCAAGAGGAAAGTACT
TGGAAGAAAAGATTCCGGGGACATGTCTGTTCGAAGCAAATCGAGAGCTCCCCTCAGCAGTAGCAGCAGCAGCGCCAGTTCCATCACTTCACCCAGCAGTAATGTGACAACCCCCAACAGCCAGAGGT
CTCCTGGTCTCATATACCGAAATGCCAAAAAGTCCAACACATCCAATGAAGAGTTTAAGCTGTTACTGCTCAAGAAAGGCAGTCGCTCAGATTCTAGTTACCGCATGTCTGCCACTGAGATCCTGAAG
AGCCCCATACTGCCCAAACCTCCTGGGGAGCTCACAGCAGAGTCCCCTCAGAGCACCGATGATGCCCATCAGGGGTCACAAGGGGCTGAGGCATTGTCCCCACTCTCTCCATGCTCCCCACGAGTTAA
TGCAGAAGGCTTTTCCTCGAAGAGCTTTGCCACCTCAGCATCAGCAAGGGTTGGACGTTCTCGGGCCCCTCCTGCAGCCAGCAGCAGCCGCTACAGTGTCCGCTGCCGGCTGTACAATACGCCCATGC
AGGCAATCTCCGAGGGAGAGACGGAAAATTCTGACGGGAGCCCACATGACGACCGTTCCTCCCAGAGTTCAACATAGACTGCCTGTACCAGGCTGCCTGGCAAAGGCCAAAACCCTTACTCACATGAG
GATGGAGGAACAGAACAGAGGACTTGGGAAAAGTCTCAACTTGATGGGGTAGCATCACTGCTAAGCAATGAATGAATTTCTAAATACAGTATGTGCTGGGTAAACAGAAAGTGGTTTAGACATTCTTG
ATTAGTTTCCATATTTTAAGTAGCTGCAGTCTTTCATGTTTTTCTTTAGCATAGTTTGATTTACGCAATCTCCTTCCTTGTGAAAATAGAGGATACAAAATTGTCTAATTTTCATGACACCTAGAAAA
CGTTTTCCCAGAGCTGCCTATTCAGAAACTAAAGCCCTCACTGTCATTATTCTTTAAGAAGATGAAATTACTCTGGATGTTTGGTATTTTTTTACATTAAAACAAACTAAAGCAAAATTTAGAAGAAA
GAACTACACATATGTAAATACCATATTTTTGATAAAAATGTGTAAATAGATTTATCAATGATGAGTGGACATGTGGTCAATTATCTACTGCACACCAACTGTTTATAGAATACACAAAAATAAAATGT
AATAACTGTATTCTGTGAATACCATTTTCATATCAAATGCCATATTTAAATGTCCACCAATATGATTTCTGAGTGGTAAACCTCAAATATGAATTTTAAACTGGTGAACTAAAGGAAATCTTGAGGTC
ATATACTGAAATATGAATAAATTAAAATAATGAATTCAGATCTAATCATTTTTATGACAAATTGCAGCACCAAACAAACTAATAGCAACCCATGGCTGTGATTTGTTGTGTGGTAATTTGGACAGAAT
GAAAAGCATGCTTTTGATTTTTTTTTTAATCAGTGAGAGAAGTCATCATTCTCAACACAAAGCCCTGAACAACAGCATTTGACAGTGTCCTTTAGATTTTAATTTTTTCAATGGATTGCTTTAAAGAG
AATGAGTAGGGAAAATAGTAGTTAATTTTAGGTTATGTTTTATATTAGGCTACTGGGGACATAAACGGTCATAACTAATGACTGTAATCATTAAACTCCTTAAACAGTTTAGAAATTAGCTCCAGGTT
CTTAAACTAACAAAAATAAAACCTAAGCATGCCACAGAGCTATTGATTAATCAGTAAGTACCTGTAATGAGTTTTCAGTGAAGCTTTCTCTCTGTGCTGATGAGATTCATGCTACCTAAAAATTAACA
GAAATGACACTGTGAACAATGTAGTTGGAAAATAGGTATGTGTATATGCATTATTTATACTCATTGTTAAACTGGGAATGGGGAACAGCTCTGGTTCACAATACTACATACAACTGAGTTTTTGTCTG
GTTTTACTATAGTGTCTGCTTGATGGCAAAAGGGGAGGGTGGAGGGTGGGAGAGGAAATGTCAGGGCATGTGCTCTGATAAAATAAAGGCAGGGAAACAAGCTGAATTACTTGAAATTACTTGAATTT
TCTTGTCTTAAAACTGAAAAAAAAATGTAGTTACACGTTAAAATCTGCAAATGGTTTTTACACCTCTGATTTTAACATGAACTTATACTAATGTTTGGAATCTTATGTCAGAAATATAAGCAGCTATG
TACTTAGAATAGGTTTTGAATGGGAGAGGTAGAACAGAGAGAGAATTAAGAAGGGATCTGACTTATAAAAGACTAGAATGTGATTAGAGTGATAGAACATACCAATGTTACCAAGAAATTGACAAGCT
GCTGGCTTTAAGCTTATGCAAGTGGTAGTTGGGAAAGTAGGAGGTGTGGAAGAGGGTTTGCATTTTGGATTAATTCATGCAAAATGAAGGAGGAAGCCTGGTCTAAGAAGATACTGTCTTTCAATAGA
AATGATTTCTAAACTGCTACAGATTAAGAATAGATAATCTGATTGCTGTTGTTTTGTTTGTTTGGAAAGAAAAAAAATGTCTGGCTTCTTCTACTATTTGTTTTCACTACCAAACTGTGTTACTAAAT
TTCTTGTCATCCTTGTATGTAAAATGGGTGCTGGGGGTGGAGGGGTATAAGAGGAGGGAGAGTCAGAGAGAGTGTGTATGGGTGTGTGTGAGTGTGAGTGTGTGTGTACGCACACACACTGGGGATAG
ATAAGCTACCTGGTAAAGGGTTTGAACATTTACAAAATGTCACACTTTTTCTTAAAAGAAAAATATTTTGGGGTTTGAATAAAATGGACCACCATTTCTCATTGGAACCCATTAATTAAGAAAACCAG
CATGGTTTGACACCACATGGGAACATGAATAAATCTGTCTCATGATTTGAAAAGTACACCTTGCAAAGTTTTAAAAATAAAGTTTTTAGGCAAATGCGATAAGAAACCGTCATTTCCAGTCACAGTAG
GCGATCTTTCGTAATTTCATAAAAGCAGTTCGTTTGCAGTATGGCTTTTGTGTAGTTAGGGGTTTTTTAAGTGTGAAGAAAGGTATGTGGGCTTTAAAAGTGATTCTAAATCTTGAATAGAAAACACA
TGAATTGGCTTTAATAAAAATGTCACCTTTTTATTATTGACATTAAGTAATGGTACCATATATTTTTTAAAATACATATTGACTTGAATTGTGAGGCAATAAGATACCTTCTATATGTAATGATCACA
GAACTAACCCTTATAATATAGTTTTACTTATTTTGTTTACTCTAAAAATCTATAGCAGAGTTTCTCTATTTTATATTTCATAGATTTAAAAAACCCAAATAAAGATGGATTTAAAATTCACTGTGGAA
AAGAGTATTGAGTTACAAACTGAGAAGAAAAAGCAGGAAGTTCCCTAATAATCTGGAATATTCTACATGGCTTGATTACATAGCAAACAAGACCAAGATTTAGGGCTGTCTTTAACATCACTGCCGTC
TTGAAGCAGGGTACACACGTTAGGTATTGTGAAGAACATCAATCCGAACTTTTCTTCTGTTGTTTGCACTGATGCGATTTTTTGTTCTTTTATGTTTATACAACGTATCTATGTTGTGTAGGGGAAAT
TTTTTCATTTTTTAAAAATTCTACTTTGGTTTTGTTGTTGTTTTGATTTGTTTTTGGCTAAGTAGAGGACATGGACTAGTTGTAGCAAACAGAACATGCTGTTTGCTCTTGCCAAAGGTCAGTGAGTG
AGTGCATTTGCTGCAGTGGTGGCACGTAGAGAACTAGATGGTAATAAAGATTTAAAACTATGAAGAAGGTTACAGTGTAACTATTTTGGTACTAGAACCAGTTCATGCTGGCCGAAACGACAATGGTT
TATGGACTTGCATCCATTTTGTATTTTTGTAATATTTGTAAATATGAACTTTTTAAATTGCTGCAAAGATGGTTTCTTTTGTAAGATGTTTTCAACGTTTACATTCAATCCAAGCCTTTGTATATTTT
AGAGCTGTGCAACACTTTAAGTCTTGTATTTATTTTTAGTAAAAATGGTGACAGTTTCATTGTGAACCCCTCTCAAAAAAAATGTATCAGAAAAGTTTGATTACCTAGAAAGTGTGTATAGAAACTGC
AAATAAACGTGACTGCAATTAAA

hide sequence

RefSeq Acc Id:

NM_198270 ⟹ NP_938011

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	17,375,200 - 17,735,994 (+)	NCBI
GRCh37	X	17,393,357 - 17,754,114 (+)	NCBI
Build 36	X	17,303,464 - 17,664,035 (+)	NCBI Archive
HuRef	X	15,153,213 - 15,512,673 (+)	ENTREZGENE
CHM1_1	X	17,424,184 - 17,784,494 (+)	NCBI
T2T-CHM13v2.0	X	16,957,799 - 17,318,610 (+)	NCBI

Sequence:

show sequence

AGAGCGCCTTTCCGAAACCTCCTCCCCGCCCAGCCAGGGAGAGAGATCCCGGGCGCAATCGCTC
CCCGGAGCGGCCGAGGGGCGCGCGGGGAGAGGCCTGCGCCGGGGTACTTTCAAACTGAGGCGCGCGCACACACTCACACCCACCCACCCACTCACCCACACACACACAGACACACGCACGCCCATTTA
TATAGGCGGCGGCGACGGCAGTGGCCGGGGTGGCGACGGCGAGCACAGAAACGATGGAGTTGAGCCAGTCGACCCTGGTTGGAAGCAAGTGAGAAGAGACCAGGCGCACCCCTAAATTTCTGTGCGGA
GCGCTTGTCATCCTCCCCAGGGAACGGTGCACCCAAAGGAGGACTGGCTGGACTGATTTGCTAGGGAGAGGGCGGGGAAGAGGAGGCAAGGTGAGCAGAGAAGCCCCCTGCGTATCCGGACTGCCAGA
TCGCGCTTTTGCCGGACTCCTGCCCCCTCCCTGCTCAGGTGGGCGCGCCCGGTCTCCAGCTCACAGGGGCGCTTGGAGGAGACCAGAAAGTCGCCGCCTGGCTGCGCGGGATGCCTTTCGCCAAGCGG
ATCGTGGAGCCGCAATGGCTGTGCAGGCAGCGGCGCCCTGCGCCCGGCCCAGCAGTGGACGCGAGCGGAGGCAGCGCTGAGCCGCCGCCGCCCTTGCAGCCGCCGGGCCGGAGGGACCTGGACGAGGT
CGAGGCGCCAGGGCCAGAGGAGCCAGCCCGCGCCGTCCCTGCACCTTCAGGGCTGCCACCGCCGCCGCCGCCACTGCCCGCGCCGGCCGACCAGACTCAGCCGCCGCACGGAGAGGCGTCCGTGGCTG
GCGAGGAGAGCACGGCGGGGATCCCGGAGGCGGCGCCCGCAGCCGGCGAGGCGTCCTCGGCGGCGGCGGCGGCGGCCGTGCTGCTCATGCTGGACCTATGCGCGGTCAGCAACGCCGCTCTGGCCCGT
GTCCTCCGGCAGCTCTCGGACGTGGCCCGGCACGCTTGCAGCCTCTTCCAGGAGCTCGAGAGCGACATCCAGCTCACCCACCGCCGCGTCTGGGCGCTGCAGGGCAAGCTCGGCGGCGTGCAGCGCGT
CCTCAGCACGCTTGACCCTAAGCAGGAGGCAGTGCCCGTCTCCAACCTGGACATAGAGAGTAAGCTGAGTGTGTACTACCGCGCCCCGTGGCACCAGCAGCGCAACATCTTCCTCCCAGCCACAAGGC
CACCCTGCGTGGAGGAGCTGCACCGCCACGCCCGGCAGAGCCTGCAAGCCCTGCGCAGAGAACACCGGAGCCGGAGCGATCGCCGAGAGCAAAGAGCAGCTGCCCCCCTTTCCATTGCAGCTCCTCCA
CTGCCAGCCTACCCTCCAGCTCACAGCCAGAGGAGGCGTGAGTTTAAGGACCGTCACTTTTTAACGTCCCATCCCCCAGAGGATGAAGATACAGATGTCATGTTAGGGCAGAGGCCGAAAAACCCAAT
ACACAATATCCCTTCCACACTGGACAAGCAGACCAACTGGAGCAAAGCACTACCTCTCCCGACGCCAGAGGAGAAGATGAAACAAGATGCCCAAGTGATTTCTTCTTGCATTATTCCCATCAATGTTA
CTGGAGTTGGCTTTGACAGAGAGGCTAGTATACGCTGCTCTCTGGTTCATTCACAATCGGTACTACAGCGGAGACGAAAATTGAGGAGGAGGAAAACCATCTCGGGTATCCCCAGAAGAGTTCAACAA
GAAATAGATTCTGATGAATCACCAGTGGCCAGGGAAAGGAATGTGATTGTGCACACAAACCCAGACCCCTCCAACACTGTCAATAGGATATCCGGAACCAGGGACTCTGAGTGCCAAACCGAGGATAT
TCTGATTGCTGCCCCATCCAGAAGGAGAATCAGAGCTCAAAGGGGTCAAAGCATTGCAGCTTCCCTTTCTCATTCTGCTGGCAACATTTCTGCCCTAGCAGACAAAGGTGACACCATGTTTACTCCTG
CAGTGAGCAGCCGCACAAGATCTCGGAGCCTTCCCCGGGAAGGTAATAGAGGTGGGGATGCTGAGCCCAAAGTTGGCGCTAAACCCTCAGCATATGAAGAGGGAGAGTCTTTTGTGGGTGACCATGAA
AGAACCCCTAATGATTTCAGTGAGGCTCCAAGCAGCCCGAGTGCCCAGGACCACCAGCCTACTTTGGGCCTGGCCTGCTCTCAACATCTTCACAGCCCCCAGCACAAATTAAGTGAGAGGGGAAGGTC
ACGTCTGTCCCGAATGGCTGCTGACTCTGGCAGCTGTGACATCTCCTCCAACTCAGACACGTTTGGGAGCCCCATCCACTGCATCTCCACGGCTGGCGTCCTCCTTAGCAGCCACATGGACCAGAAAG
ATGACCACCAGTCATCCAGTGGCAACTGGAGTGGGAGCAGCTCCACGTGCCCCTCGCAGACCTCAGAAACCATCCCTCCTGCAGCTTCTCCTCCACTCACTGGCTCTTCACACTGTGACTCGGAGTTG
TCACTAAACACAGCCCCTCATGCCAATGAGGATGCCAGTGTTTTCGTGACAGAGCAATACAATGACCACTTGGATAAAGTGAGAGGCCATCGGGCAAACTCCTTTACCTCCACTGTTGCAGACCTGCT
GGATGATCCCAACAACAGCAACACAAGTGACAGTGAGTGGAATTACCTACACCACCACCATGATGCCTCCTGCCGCCAGGATTTTAGTCCTGAGCGTCCCAAGGCAGACAGCCTGGGCTGCCCAAGCT
TCACAAGCATGGCCACTTATGACAGCTTTCTGGAAAAGTCTCCATCAGACAAAGCGGACACTAGCTCTCACTTTTCAGTAGACACGGAAGGATACTATACCTCCATGCACTTTGACTGTGGTCTCAAA
GGTAATAAGAGCTATGTCTGTCACTATGCAGCCCTGGGCCCAGAGAATGGCCAGGGTGTAGGGGCTTCCCCTGGTCTTCCAGATTGTGCCTGGCAGGACTACTTAGACCACAAGAGGCAGGGAAGACC
AAGCATCTCTTTCAGGAAACCAAAGGCAAAGCCGACCCCACCTAAACGTAGCTCATCATTGAGGAAGTCTGATGGAAACGCAGATATTTCTGAGAAGAAAGAACCAAAGATAAGCAGTGGTCAGCACC
TGCCTCACAGTTCCAGGGAAATGAAGCTGCCTCTTGATTTCGCCAACACGCCTTCTCGAATGGAAAACGCCAATCTTCCCACCAAGCAGGAACCTTCTTGGATAAACCAGAGTGAACAAGGCATTAAG
GAACCTCAGTTAGATGCTTCGGATATTCCACCATTCAAAGATGAAGTTGCCGAATCCACACACTATGCAGACCTCTGGCTCCTAAATGACTTGAAAACAAATGATCCTTATAGATCTCTATCTAATTC
AAGCACCGCTACGGGTACCACAGTCATTGAATGCATCAAATCTCCAGAGAGCTCTGAATCCCAAACATCACAATCAGAATCAAGAGCCACCACCCCATCTCTTCCTTCTGTTGACAATGAGTTTAAAC
TGGCTTCACCAGAAAAGCTGGCTGGCTTGGCATCTCCATCAAGTGGCTATTCAAGCCAGTCTGAAACGCCAACATCCTCTTTCCCTACAGCTTTCTTTTCAGGTCCATTGTCTCCCGGAGGTAGCAAA
AGAAAACCTAAAGTCCCAGAAAGAAAATCCTCACTACAGCAACCCTCTTTAAAAGATGGAACTATATCACTGAGTAAAGACCTTGAACTTCCAATTATACCTCCTACCCATCTTGATCTAAGTGCTCT
TCATAATGTCTTGAACAAACCATTCCACCACCGTCATCCACTGCATGTTTTTACTCATAATAAGCAGAACACAGTAGGAGAAACACTGAGGTCGAATCCTCCACCGTCCCTTGCAATTACACCAACGA
TCCTGAAATCTGTTAACCTTAGGTCCATCAACAAGTCTGAAGAAGTTAAGCAAAAAGAAGAAAACAATACAGATCTCCCTTATTTAGAGGAAAGCACACTCACAACGGCTGCCTTGTCTCCAAGTAAG
ATTAGGCCGCATACAGCAAATAAATCAGTATCTCGTCAATACTCCACTGAAGACACCATACTGTCCTTTTTAGACTCTTCTGCAGTTGAGATGGGACCAGATAAACTACATTTAGAAAAAAACTCTAC
TTTTGATGTGAAGAATCGCTGCGATCCAGAAACCATAACATCAGCTGGTAGCAGTCTTCTAGATTCAAATGTCACAAAAGACCAAGTGCGTACAGAGACTGAGCCTATTCCAGAAAACACGCCAACCA
AAAACTGTGCTTTTCCCACAGAAGGATTTCAGAGGGTCTCTGCTGCCCGCCCAAATGATTTGGATGGTAAAATAATACAATATGGACCTGGTCCAGACGAAACTCTAGAACAGGTACAGAAGGCACCC
TCTGCAGGTCTGGAGGAAGTTGCACAACCTGAATCTGTGGATGTAATCACATCTCAGTCAGACTCACCAACTAGAGCAACAGATGTAAGCAATCAATTTAAGCATCAATTTGTTATGAGCCGCCACCA
TGACAAAGTGCCTGGTACTATCAGCTATGAATCGGAGATAACATCTGTAAATTCATTCCCTGAAAAATGTTCCAAGCAGGAAAATATTGCTTCAGGTATTTCAGCCAAAAGTGCCTCTGATAACAGCA
AAGCAGAGGAGACCCAAGGAAATGTGGATGAGGCTTCATTGAAAGAATCATCACCGAGTGATGACTCCATCATTTCACCACTTAGTGAAGACTCCCAAGCTGAAGCAGAGGGTGTGTTCGTGTCTCCA
AACAAACCTCGAACAACTGAGGATTTATTTGCAGTCATTCACAGATCCAAGAGGAAAGTACTTGGAAGAAAAGATTCCGGGGACATGTCTGTTCGAAGCAAATCGAGAGCTCCCCTCAGCAGTAGCAG
CAGCAGCGCCAGTTCCATCACTTCACCCAGCAGTAATGTGACAACCCCCAACAGCCAGAGGTCTCCTGGTCTCATATACCGAAATGCCAAAAAGTCCAACACATCCAATGAAGAGTTTAAGCTGTTAC
TGCTCAAGAAAGGCAGTCGCTCAGATTCTAGTTACCGCATGTCTGCCACTGAGATCCTGAAGAGCCCCATACTGCCCAAACCTCCTGGGGAGCTCACAGCAGAGTCCCCTCAGAGCACCGATGATGCC
CATCAGGGGTCACAAGGGGCTGAGGCATTGTCCCCACTCTCTCCATGCTCCCCACGAGTTAATGCAGAAGGCTTTTCCTCGAAGAGCTTTGCCACCTCAGCATCAGCAAGGGTTGGACGTTCTCGGGC
CCCTCCTGCAGCCAGCAGCAGCCGCTACAGTGTCCGCTGCCGGCTGTACAATACGCCCATGCAGGCAATCTCCGAGGGAGAGACGGAAAATTCTGACGGGAGCCCACATGACGACCGTTCCTCCCAGA
GTTCAACATAGACTGCCTGTACCAGGCTGCCTGGCAAAGGCCAAAACCCTTACTCACATGAGGATGGAGGAACAGAACAGAGGACTTGGGAAAAGTCTCAACTTGATGGGGTAGCATCACTGCTAAGC
AATGAATGAATTTCTAAATACAGTATGTGCTGGGTAAACAGAAAGTGGTTTAGACATTCTTGATTAGTTTCCATATTTTAAGTAGCTGCAGTCTTTCATGTTTTTCTTTAGCATAGTTTGATTTACGC
AATCTCCTTCCTTGTGAAAATAGAGGATACAAAATTGTCTAATTTTCATGACACCTAGAAAACGTTTTCCCAGAGCTGCCTATTCAGAAACTAAAGCCCTCACTGTCATTATTCTTTAAGAAGATGAA
ATTACTCTGGATGTTTGGTATTTTTTTACATTAAAACAAACTAAAGCAAAATTTAGAAGAAAGAACTACACATATGTAAATACCATATTTTTGATAAAAATGTGTAAATAGATTTATCAATGATGAGT
GGACATGTGGTCAATTATCTACTGCACACCAACTGTTTATAGAATACACAAAAATAAAATGTAATAACTGTATTCTGTGAATACCATTTTCATATCAAATGCCATATTTAAATGTCCACCAATATGAT
TTCTGAGTGGTAAACCTCAAATATGAATTTTAAACTGGTGAACTAAAGGAAATCTTGAGGTCATATACTGAAATATGAATAAATTAAAATAATGAATTCAGATCTAATCATTTTTATGACAAATTGCA
GCACCAAACAAACTAATAGCAACCCATGGCTGTGATTTGTTGTGTGGTAATTTGGACAGAATGAAAAGCATGCTTTTGATTTTTTTTTTAATCAGTGAGAGAAGTCATCATTCTCAACACAAAGCCCT
GAACAACAGCATTTGACAGTGTCCTTTAGATTTTAATTTTTTCAATGGATTGCTTTAAAGAGAATGAGTAGGGAAAATAGTAGTTAATTTTAGGTTATGTTTTATATTAGGCTACTGGGGACATAAAC
GGTCATAACTAATGACTGTAATCATTAAACTCCTTAAACAGTTTAGAAATTAGCTCCAGGTTCTTAAACTAACAAAAATAAAACCTAAGCATGCCACAGAGCTATTGATTAATCAGTAAGTACCTGTA
ATGAGTTTTCAGTGAAGCTTTCTCTCTGTGCTGATGAGATTCATGCTACCTAAAAATTAACAGAAATGACACTGTGAACAATGTAGTTGGAAAATAGGTATGTGTATATGCATTATTTATACTCATTG
TTAAACTGGGAATGGGGAACAGCTCTGGTTCACAATACTACATACAACTGAGTTTTTGTCTGGTTTTACTATAGTGTCTGCTTGATGGCAAAAGGGGAGGGTGGAGGGTGGGAGAGGAAATGTCAGGG
CATGTGCTCTGATAAAATAAAGGCAGGGAAACAAGCTGAATTACTTGAAATTACTTGAATTTTCTTGTCTTAAAACTGAAAAAAAAATGTAGTTACACGTTAAAATCTGCAAATGGTTTTTACACCTC
TGATTTTAACATGAACTTATACTAATGTTTGGAATCTTATGTCAGAAATATAAGCAGCTATGTACTTAGAATAGGTTTTGAATGGGAGAGGTAGAACAGAGAGAGAATTAAGAAGGGATCTGACTTAT
AAAAGACTAGAATGTGATTAGAGTGATAGAACATACCAATGTTACCAAGAAATTGACAAGCTGCTGGCTTTAAGCTTATGCAAGTGGTAGTTGGGAAAGTAGGAGGTGTGGAAGAGGGTTTGCATTTT
GGATTAATTCATGCAAAATGAAGGAGGAAGCCTGGTCTAAGAAGATACTGTCTTTCAATAGAAATGATTTCTAAACTGCTACAGATTAAGAATAGATAATCTGATTGCTGTTGTTTTGTTTGTTTGGA
AAGAAAAAAAATGTCTGGCTTCTTCTACTATTTGTTTTCACTACCAAACTGTGTTACTAAATTTCTTGTCATCCTTGTATGTAAAATGGGTGCTGGGGGTGGAGGGGTATAAGAGGAGGGAGAGTCAG
AGAGAGTGTGTATGGGTGTGTGTGAGTGTGAGTGTGTGTGTACGCACACACACTGGGGATAGATAAGCTACCTGGTAAAGGGTTTGAACATTTACAAAATGTCACACTTTTTCTTAAAAGAAAAATAT
TTTGGGGTTTGAATAAAATGGACCACCATTTCTCATTGGAACCCATTAATTAAGAAAACCAGCATGGTTTGACACCACATGGGAACATGAATAAATCTGTCTCATGATTTGAAAAGTACACCTTGCAA
AGTTTTAAAAATAAAGTTTTTAGGCAAATGCGATAAGAAACCGTCATTTCCAGTCACAGTAGGCGATCTTTCGTAATTTCATAAAAGCAGTTCGTTTGCAGTATGGCTTTTGTGTAGTTAGGGGTTTT
TTAAGTGTGAAGAAAGGTATGTGGGCTTTAAAAGTGATTCTAAATCTTGAATAGAAAACACATGAATTGGCTTTAATAAAAATGTCACCTTTTTATTATTGACATTAAGTAATGGTACCATATATTTT
TTAAAATACATATTGACTTGAATTGTGAGGCAATAAGATACCTTCTATATGTAATGATCACAGAACTAACCCTTATAATATAGTTTTACTTATTTTGTTTACTCTAAAAATCTATAGCAGAGTTTCTC
TATTTTATATTTCATAGATTTAAAAAACCCAAATAAAGATGGATTTAAAATTCACTGTGGAAAAGAGTATTGAGTTACAAACTGAGAAGAAAAAGCAGGAAGTTCCCTAATAATCTGGAATATTCTAC
ATGGCTTGATTACATAGCAAACAAGACCAAGATTTAGGGCTGTCTTTAACATCACTGCCGTCTTGAAGCAGGGTACACACGTTAGGTATTGTGAAGAACATCAATCCGAACTTTTCTTCTGTTGTTTG
CACTGATGCGATTTTTTGTTCTTTTATGTTTATACAACGTATCTATGTTGTGTAGGGGAAATTTTTTCATTTTTTAAAAATTCTACTTTGGTTTTGTTGTTGTTTTGATTTGTTTTTGGCTAAGTAGA
GGACATGGACTAGTTGTAGCAAACAGAACATGCTGTTTGCTCTTGCCAAAGGTCAGTGAGTGAGTGCATTTGCTGCAGTGGTGGCACGTAGAGAACTAGATGGTAATAAAGATTTAAAACTATGAAGA
AGGTTACAGTGTAACTATTTTGGTACTAGAACCAGTTCATGCTGGCCGAAACGACAATGGTTTATGGACTTGCATCCATTTTGTATTTTTGTAATATTTGTAAATATGAACTTTTTAAATTGCTGCAA
AGATGGTTTCTTTTGTAAGATGTTTTCAACGTTTACATTCAATCCAAGCCTTTGTATATTTTAGAGCTGTGCAACACTTTAAGTCTTGTATTTATTTTTAGTAAAAATGGTGACAGTTTCATTGTGAA
CCCCTCTCAAAAAAAATGTATCAGAAAAGTTTGATTACCTAGAAAGTGTGTATAGAAACTGCAAATAAACGTGACTGCAATTAAA

hide sequence

RefSeq Acc Id:

XM_011545528 ⟹ XP_011543830

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	17,720,094 - 17,735,994 (+)	NCBI

Sequence:

show sequence

ACATTCCTTCACGGCCCTATCCCACTCTGTCCAGACACTCTTCCTTTTTTCCCTCTTTTAACTTTATGGAAAACTTTCTTGTTTCTAACTAACGGTTTTTCTTTAAAATCAATTTAAAAAGTGGTATT
TTCCTAACTTGAATTAAATAGAATATAACTTAGACAGTCATGCCATTTGCCTTTTTCCCCCATTCACTGCCCCCCACTCTGCAAACTGCATCACCTAACACTACTCTTGGACTTTGTAGTCTGGCAGA
GGAACCTTTTCCTATATTTAATTTATCAGAACTGTAAATGTTCAGCTTCTCAAATCAAAAAGGAGAACAAGACAAAAGGATTCTCTGGCAGCCAATCGTCCTGTCACCATTAAATAAAAAGTGCTTTT
GGCTGCTGGTCAGAGCTTGTAGTCAGGTCACTATCCTGTCGACACTTTGCAGTCCATTGTTATTCAAGGAAGGAATCGCCTACAAAATGAAGCCTCTGGTGGTGGGGGGTTTCTCTTTATTGCTCATT
CTCTCTCTTTGTCTCCCTCTTTCTCTCTCTCTCTCTCAATCAGTTTCTCTCTCTCTCTCTCTCTGTATGCACCAAACTTTTTTTCTTTTTGGAAGTTACCTAGGAAACAAAGTCTTTTGTTCTCGAAC
TTTATTTGAGCTATTCGCTTCGCTGGGAATCTGCACAAAAGCTGAAGAGAGAAAGAAGGTTGCAATATTTTACTAAAACGTTCATGACGAACATATTTTTCCCAAGGGGGGAGTCATATCCTGTTGGG
TGTGTTGGGGGGATTTGCAGAAACCTCTGACAAGTCCCATCCCCCAGAGGATGAAGATACAGATGTCATGTTAGGGCAGAGGCCGAAAAACCCAATACACAATATCCCTTCCACACTGGACAAGCAGA
CCAACTGGAGCAAAGCACTACCTCTCCCGACGCCAGAGGAGAAGATGAAACAAGATGCCCAAGTGATTTCTTCTTGCATTATTCCCATCAATGTTACTGGAGTTGGCTTTGACAGAGAGGCTAGTATA
CGCTGCTCTCTGGTTCATTCACAATCGGTACTACAGCGGAGACGAAAATTGAGGAGGAGGAAAACCATCTCGGGTATCCCCAGAAGAGTTCAACAAGAAATAGATTCTGATGAATCACCAGTGGCCAG
GGAAAGGAATGTGATTGTGCACACAAACCCAGACCCCTCCAACACTGTCAATAGGATATCCGGAACCAGGGACTCTGAGTGCCAAACCGAGGATATTCTGATTGCTGCCCCATCCAGAAGGAGAATCA
GAGCTCAAAGGGGTCAAAGCATTGCAGCTTCCCTTTCTCATTCTGCTGGCAACATTTCTGCCCTAGCAGACAAAGGTGACACCATGTTTACTCCTGCAGTGAGCAGCCGCACAAGATCTCGGAGCCTT
CCCCGGGAAGGTAATAGAGGTGGGGATGCTGAGCCCAAAGTTGGCGCTAAACCCTCAGCATATGAAGAGGGAGAGTCTTTTGTGGGTGACCATGAAAGAACCCCTAATGATTTCAGTGAGGCTCCAAG
CAGCCCGAGTGCCCAGGACCACCAGCCTACTTTGGGCCTGGCCTGCTCTCAACATCTTCACAGCCCCCAGCACAAATTAAGTGAGAGGGGAAGGTCACGTCTGTCCCGAATGGCTGCTGACTCTGGCA
GCTGTGACATCTCCTCCAACTCAGACACGTTTGGGAGCCCCATCCACTGCATCTCCACGGCTGGCGTCCTCCTTAGCAGCCACATGGACCAGAAAGATGACCACCAGTCATCCAGTGGCAACTGGAGT
GGGAGCAGCTCCACGTGCCCCTCGCAGACCTCAGAAACCATCCCTCCTGCAGCTTCTCCTCCACTCACTGGCTCTTCACACTGTGACTCGGAGTTGTCACTAAACACAGCCCCTCATGCCAATGAGGA
TGCCAGTGTTTTCGTGACAGAGCAATACAATGACCACTTGGATAAAGTGAGAGGCCATCGGGCAAACTCCTTTACCTCCACTGTTGCAGACCTGCTGGATGATCCCAACAACAGCAACACAAGTGACA
GTGAGTGGAATTACCTACACCACCACCATGATGCCTCCTGCCGCCAGGATTTTAGTCCTGAGCGTCCCAAGGCAGACAGCCTGGGCTGCCCAAGCTTCACAAGCATGGCCACTTATGACAGCTTTCTG
GAAAAGTCTCCATCAGACAAAGCGGACACTAGCTCTCACTTTTCAGTAGACACGGAAGGATACTATACCTCCATGCACTTTGACTGTGGTCTCAAAGGTAATAAGAGCTATGTCTGTCACTATGCAGC
CCTGGGCCCAGAGAATGGCCAGGGTGTAGGGGCTTCCCCTGGTCTTCCAGATTGTGCCTGGCAGGACTACTTAGACCACAAGAGGCAGGGAAGACCAAGCATCTCTTTCAGGAAACCAAAGGCAAAGC
CGACCCCACCTAAACGTAGCTCATCATTGAGGAAGTCTGATGGAAACGCAGATATTTCTGAGAAGAAAGAACCAAAGATAAGCAGTGGTCAGCACCTGCCTCACAGTTCCAGGGAAATGAAGCTGCCT
CTTGATTTCGCCAACACGCCTTCTCGAATGGAAAACGCCAATCTTCCCACCAAGCAGGAACCTTCTTGGATAAACCAGAGTGAACAAGGCATTAAGGAACCTCAGTTAGATGCTTCGGATATTCCACC
ATTCAAAGATGAAGTTGCCGAATCCACACACTATGCAGACCTCTGGCTCCTAAATGACTTGAAAACAAATGATCCTTATAGATCTCTATCTAATTCAAGCACCGCTACGGGTACCACAGTCATTGAAT
GCATCAAATCTCCAGAGAGCTCTGAATCCCAAACATCACAATCAGAATCAAGAGCCACCACCCCATCTCTTCCTTCTGTTGACAATGAGTTTAAACTGGCTTCACCAGAAAAGCTGGCTGGCTTGGCA
TCTCCATCAAGTGGCTATTCAAGCCAGTCTGAAACGCCAACATCCTCTTTCCCTACAGCTTTCTTTTCAGGTCCATTGTCTCCCGGAGGTAGCAAAAGAAAACCTAAAGTCCCAGAAAGAAAATCCTC
ACTACAGCAACCCTCTTTAAAAGATGGAACTATATCACTGAGTAAAGACCTTGAACTTCCAATTATACCTCCTACCCATCTTGATCTAAGTGCTCTTCATAATGTCTTGAACAAACCATTCCACCACC
GTCATCCACTGCATGTTTTTACTCATAATAAGCAGAACACAGTAGGAGAAACACTGAGGTCGAATCCTCCACCGTCCCTTGCAATTACACCAACGATCCTGAAATCTGTTAACCTTAGGTCCATCAAC
AAGTCTGAAGAAGTTAAGCAAAAAGAAGAAAACAATACAGATCTCCCTTATTTAGAGGAAAGCACACTCACAACGGCTGCCTTGTCTCCAAGTAAGATTAGGCCGCATACAGCAAATAAATCAGTATC
TCGTCAATACTCCACTGAAGACACCATACTGTCCTTTTTAGACTCTTCTGCAGTTGAGATGGGACCAGATAAACTACATTTAGAAAAAAACTCTACTTTTGATGTGAAGAATCGCTGCGATCCAGAAA
CCATAACATCAGCTGGTAGCAGTCTTCTAGATTCAAATGTCACAAAAGACCAAGTGCGTACAGAGACTGAGCCTATTCCAGAAAACACGCCAACCAAAAACTGTGCTTTTCCCACAGAAGGATTTCAG
AGGGTCTCTGCTGCCCGCCCAAATGATTTGGATGGTAAAATAATACAATATGGACCTGGTCCAGACGAAACTCTAGAACAGGTACAGAAGGCACCCTCTGCAGGTCTGGAGGAAGTTGCACAACCTGA
ATCTGTGGATGTAATCACATCTCAGTCAGACTCACCAACTAGAGCAACAGATGTAAGCAATCAATTTAAGCATCAATTTGTTATGAGCCGCCACCATGACAAAGTGCCTGGTACTATCAGCTATGAAT
CGGAGATAACATCTGTAAATTCATTCCCTGAAAAATGTTCCAAGCAGGAAAATATTGCTTCAGGTATTTCAGCCAAAAGTGCCTCTGATAACAGCAAAGCAGAGGAGACCCAAGGAAATGTGGATGAG
GCTTCATTGAAAGAATCATCACCGAGTGATGACTCCATCATTTCACCACTTAGTGAAGACTCCCAAGCTGAAGCAGAGGGTGTGTTCGTGTCTCCAAACAAACCTCGAACAACTGAGGATTTATTTGC
AGTCATTCACAGATCCAAGAGGAAAGTACTTGGAAGAAAAGATTCCGGGGACATGTCTGTTCGAAGCAAATCGAGAGCTCCCCTCAGCAGTAGCAGCAGCAGCGCCAGTTCCATCACTTCACCCAGCA
GTAATGTGACAACCCCCAACAGCCAGAGGTCTCCTGGTCTCATATACCGAAATGCCAAAAAGTCCAACACATCCAATGAAGAGTTTAAGCTGTTACTGCTCAAGAAAGGCAGTCGCTCAGATTCTAGT
TACCGCATGTCTGCCACTGAGATCCTGAAGAGCCCCATACTGCCCAAACCTCCTGGGGAGCTCACAGCAGAGTCCCCTCAGAGCACCGATGATGCCCATCAGGGGTCACAAGGGGCTGAGGCATTGTC
CCCACTCTCTCCATGCTCCCCACGAGTTAATGCAGAAGGCTTTTCCTCGAAGAGCTTTGCCACCTCAGCATCAGCAAGGGTTGGACGTTCTCGGGCCCCTCCTGCAGCCAGCAGCAGCCGCTACAGTG
TCCGCTGCCGGCTGTACAATACGCCCATGCAGGCAATCTCCGAGGGAGAGACGGAAAATTCTGACGGGAGCCCACATGACGACCGTTCCTCCCAGAGTTCAACATAGACTGCCTGTACCAGGCTGCCT
GGCAAAGGCCAAAACCCTTACTCACATGAGGATGGAGGAACAGAACAGAGGACTTGGGAAAAGTCTCAACTTGATGGGGTAGCATCACTGCTAAGCAATGAATGAATTTCTAAATACAGTATGTGCTG
GGTAAACAGAAAGTGGTTTAGACATTCTTGATTAGTTTCCATATTTTAAGTAGCTGCAGTCTTTCATGTTTTTCTTTAGCATAGTTTGATTTACGCAATCTCCTTCCTTGTGAAAATAGAGGATACAA
AATTGTCTAATTTTCATGACACCTAGAAAACGTTTTCCCAGAGCTGCCTATTCAGAAACTAAAGCCCTCACTGTCATTATTCTTTAAGAAGATGAAATTACTCTGGATGTTTGGTATTTTTTTACATT
AAAACAAACTAAAGCAAAATTTAGAAGAAAGAACTACACATATGTAAATACCATATTTTTGATAAAAATGTGTAAATAGATTTATCAATGATGAGTGGACATGTGGTCAATTATCTACTGCACACCAA
CTGTTTATAGAATACACAAAAATAAAATGTAATAACTGTATTCTGTGAATACCATTTTCATATCAAATGCCATATTTAAATGTCCACCAATATGATTTCTGAGTGGTAAACCTCAAATATGAATTTTA
AACTGGTGAACTAAAGGAAATCTTGAGGTCATATACTGAAATATGAATAAATTAAAATAATGAATTCAGATCTAATCATTTTTATGACAAATTGCAGCACCAAACAAACTAATAGCAACCCATGGCTG
TGATTTGTTGTGTGGTAATTTGGACAGAATGAAAAGCATGCTTTTGATTTTTTTTTTAATCAGTGAGAGAAGTCATCATTCTCAACACAAAGCCCTGAACAACAGCATTTGACAGTGTCCTTTAGATT
TTAATTTTTTCAATGGATTGCTTTAAAGAGAATGAGTAGGGAAAATAGTAGTTAATTTTAGGTTATGTTTTATATTAGGCTACTGGGGACATAAACGGTCATAACTAATGACTGTAATCATTAAACTC
CTTAAACAGTTTAGAAATTAGCTCCAGGTTCTTAAACTAACAAAAATAAAACCTAAGCATGCCACAGAGCTATTGATTAATCAGTAAGTACCTGTAATGAGTTTTCAGTGAAGCTTTCTCTCTGTGCT
GATGAGATTCATGCTACCTAAAAATTAACAGAAATGACACTGTGAACAATGTAGTTGGAAAATAGGTATGTGTATATGCATTATTTATACTCATTGTTAAACTGGGAATGGGGAACAGCTCTGGTTCA
CAATACTACATACAACTGAGTTTTTGTCTGGTTTTACTATAGTGTCTGCTTGATGGCAAAAGGGGAGGGTGGAGGGTGGGAGAGGAAATGTCAGGGCATGTGCTCTGATAAAATAAAGGCAGGGAAAC
AAGCTGAATTACTTGAAATTACTTGAATTTTCTTGTCTTAAAACTGAAAAAAAAATGTAGTTACACGTTAAAATCTGCAAATGGTTTTTACACCTCTGATTTTAACATGAACTTATACTAATGTTTGG
AATCTTATGTCAGAAATATAAGCAGCTATGTACTTAGAATAGGTTTTGAATGGGAGAGGTAGAACAGAGAGAGAATTAAGAAGGGATCTGACTTATAAAAGACTAGAATGTGATTAGAGTGATAGAAC
ATACCAATGTTACCAAGAAATTGACAAGCTGCTGGCTTTAAGCTTATGCAAGTGGTAGTTGGGAAAGTAGGAGGTGTGGAAGAGGGTTTGCATTTTGGATTAATTCATGCAAAATGAAGGAGGAAGCC
TGGTCTAAGAAGATACTGTCTTTCAATAGAAATGATTTCTAAACTGCTACAGATTAAGAATAGATAATCTGATTGCTGTTGTTTTGTTTGTTTGGAAAGAAAAAAAATGTCTGGCTTCTTCTACTATT
TGTTTTCACTACCAAACTGTGTTACTAAATTTCTTGTCATCCTTGTATGTAAAATGGGTGCTGGGGGTGGAGGGGTATAAGAGGAGGGAGAGTCAGAGAGAGTGTGTATGGGTGTGTGTGAGTGTGAG
TGTGTGTGTACGCACACACACTGGGGATAGATAAGCTACCTGGTAAAGGGTTTGAACATTTACAAAATGTCACACTTTTTCTTAAAAGAAAAATATTTTGGGGTTTGAATAAAATGGACCACCATTTC
TCATTGGAACCCATTAATTAAGAAAACCAGCATGGTTTGACACCACATGGGAACATGAATAAATCTGTCTCATGATTTGAAAAGTACACCTTGCAAAGTTTTAAAAATAAAGTTTTTAGGCAAATGCG
ATAAGAAACCGTCATTTCCAGTCACAGTAGGCGATCTTTCGTAATTTCATAAAAGCAGTTCGTTTGCAGTATGGCTTTTGTGTAGTTAGGGGTTTTTTAAGTGTGAAGAAAGGTATGTGGGCTTTAAA
AGTGATTCTAAATCTTGAATAGAAAACACATGAATTGGCTTTAATAAAAATGTCACCTTTTTATTATTGACATTAAGTAATGGTACCATATATTTTTTAAAATACATATTGACTTGAATTGTGAGGCA
ATAAGATACCTTCTATATGTAATGATCACAGAACTAACCCTTATAATATAGTTTTACTTATTTTGTTTACTCTAAAAATCTATAGCAGAGTTTCTCTATTTTATATTTCATAGATTTAAAAAACCCAA
ATAAAGATGGATTTAAAATTCACTGTGGAAAAGAGTATTGAGTTACAAACTGAGAAGAAAAAGCAGGAAGTTCCCTAATAATCTGGAATATTCTACATGGCTTGATTACATAGCAAACAAGACCAAGA
TTTAGGGCTGTCTTTAACATCACTGCCGTCTTGAAGCAGGGTACACACGTTAGGTATTGTGAAGAACATCAATCCGAACTTTTCTTCTGTTGTTTGCACTGATGCGATTTTTTGTTCTTTTATGTTTA
TACAACGTATCTATGTTGTGTAGGGGAAATTTTTTCATTTTTTAAAAATTCTACTTTGGTTTTGTTGTTGTTTTGATTTGTTTTTGGCTAAGTAGAGGACATGGACTAGTTGTAGCAAACAGAACATG
CTGTTTGCTCTTGCCAAAGGTCAGTGAGTGAGTGCATTTGCTGCAGTGGTGGCACGTAGAGAACTAGATGGTAATAAAGATTTAAAACTATGAAGAAGGTTACAGTGTAACTATTTTGGTACTAGAAC
CAGTTCATGCTGGCCGAAACGACAATGGTTTATGGACTTGCATCCATTTTGTATTTTTGTAATATTTGTAAATATGAACTTTTTAAATTGCTGCAAAGATGGTTTCTTTTGTAAGATGTTTTCAACGT
TTACATTCAATCCAAGCCTTTGTATATTTTAGAGCTGTGCAACACTTTAAGTCTTGTATTTATTTTTAGTAAAAATGGTGACAGTTTCATTGTGAACCCCTCTCAAAAAAAATGTATCAGAAAAGTTT
GATTACCTAGAAAGTGTGTATAGAAACTGCAAATAAACGTGACTGCAATTAAA

hide sequence

RefSeq Acc Id:

XM_047442140 ⟹ XP_047298096

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	17,656,084 - 17,735,994 (+)	NCBI

RefSeq Acc Id:

XM_054327129 ⟹ XP_054183104

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	17,237,913 - 17,318,610 (+)	NCBI

RefSeq Acc Id:

XM_054327130 ⟹ XP_054183105

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	17,302,147 - 17,318,610 (+)	NCBI


Protein RefSeqs	NP_001129496	(Get FASTA)	NCBI Sequence Viewer
	NP_001278796	(Get FASTA)	NCBI Sequence Viewer
	NP_001278797	(Get FASTA)	NCBI Sequence Viewer
	NP_938011	(Get FASTA)	NCBI Sequence Viewer
	XP_011543830	(Get FASTA)	NCBI Sequence Viewer
	XP_047298096	(Get FASTA)	NCBI Sequence Viewer
	XP_054183104	(Get FASTA)	NCBI Sequence Viewer
	XP_054183105	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI36416	(Get FASTA)	NCBI Sequence Viewer
	AAI71763	(Get FASTA)	NCBI Sequence Viewer
	AAR03104	(Get FASTA)	NCBI Sequence Viewer
	AAS13455	(Get FASTA)	NCBI Sequence Viewer
	AAS13456	(Get FASTA)	NCBI Sequence Viewer
	AAT51705	(Get FASTA)	NCBI Sequence Viewer
	ADN85614	(Get FASTA)	NCBI Sequence Viewer
	BAH13708	(Get FASTA)	NCBI Sequence Viewer
	CAH18155	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000369400
	ENSP00000369400.3
	ENSP00000381170
	ENSP00000381170.3
	ENSP00000478433
	ENSP00000502262
	ENSP00000502262.1
GenBank Protein	Q6T4R5	(Get FASTA)	NCBI Sequence Viewer
	ULB32634	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_938011 ⟸ NM_198270
- Peptide Label:	isoform 1
- UniProtKB:	A0A087WU78 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPFAKRIVEPQWLCRQRRPAPGPAVDASGGSAEPPPPLQPPGRRDLDEVEAPGPEEPARAVPAPSGLPPPPPPLPAPADQTQPPHGEASVAGEESTAGIPEAAPAAGEASSAAAAAAVLLMLDLCAVS NAALARVLRQLSDVARHACSLFQELESDIQLTHRRVWALQGKLGGVQRVLSTLDPKQEAVPVSNLDIESKLSVYYRAPWHQQRNIFLPATRPPCVEELHRHARQSLQALRREHRSRSDRREQRAAAPL SIAAPPLPAYPPAHSQRRREFKDRHFLTSHPPEDEDTDVMLGQRPKNPIHNIPSTLDKQTNWSKALPLPTPEEKMKQDAQVISSCIIPINVTGVGFDREASIRCSLVHSQSVLQRRRKLRRRKTISGI PRRVQQEIDSDESPVARERNVIVHTNPDPSNTVNRISGTRDSECQTEDILIAAPSRRRIRAQRGQSIAASLSHSAGNISALADKGDTMFTPAVSSRTRSRSLPREGNRGGDAEPKVGAKPSAYEEGES FVGDHERTPNDFSEAPSSPSAQDHQPTLGLACSQHLHSPQHKLSERGRSRLSRMAADSGSCDISSNSDTFGSPIHCISTAGVLLSSHMDQKDDHQSSSGNWSGSSSTCPSQTSETIPPAASPPLTGSS HCDSELSLNTAPHANEDASVFVTEQYNDHLDKVRGHRANSFTSTVADLLDDPNNSNTSDSEWNYLHHHHDASCRQDFSPERPKADSLGCPSFTSMATYDSFLEKSPSDKADTSSHFSVDTEGYYTSMH FDCGLKGNKSYVCHYAALGPENGQGVGASPGLPDCAWQDYLDHKRQGRPSISFRKPKAKPTPPKRSSSLRKSDGNADISEKKEPKISSGQHLPHSSREMKLPLDFANTPSRMENANLPTKQEPSWINQ SEQGIKEPQLDASDIPPFKDEVAESTHYADLWLLNDLKTNDPYRSLSNSSTATGTTVIECIKSPESSESQTSQSESRATTPSLPSVDNEFKLASPEKLAGLASPSSGYSSQSETPTSSFPTAFFSGPL SPGGSKRKPKVPERKSSLQQPSLKDGTISLSKDLELPIIPPTHLDLSALHNVLNKPFHHRHPLHVFTHNKQNTVGETLRSNPPPSLAITPTILKSVNLRSINKSEEVKQKEENNTDLPYLEESTLTTA ALSPSKIRPHTANKSVSRQYSTEDTILSFLDSSAVEMGPDKLHLEKNSTFDVKNRCDPETITSAGSSLLDSNVTKDQVRTETEPIPENTPTKNCAFPTEGFQRVSAARPNDLDGKIIQYGPGPDETLE QVQKAPSAGLEEVAQPESVDVITSQSDSPTRATDVSNQFKHQFVMSRHHDKVPGTISYESEITSVNSFPEKCSKQENIASGISAKSASDNSKAEETQGNVDEASLKESSPSDDSIISPLSEDSQAEAE GVFVSPNKPRTTEDLFAVIHRSKRKVLGRKDSGDMSVRSKSRAPLSSSSSSASSITSPSSNVTTPNSQRSPGLIYRNAKKSNTSNEEFKLLLLKKGSRSDSSYRMSATEILKSPILPKPPGELTAESP QSTDDAHQGSQGAEALSPLSPCSPRVNAEGFSSKSFATSASARVGRSRAPPAASSSRYSVRCRLYNTPMQAISEGETENSDGSPHDDRSSQSST hide sequence

RefSeq Acc Id:	NP_001129496 ⟸ NM_001136024
- Peptide Label:	isoform 2
- UniProtKB:	A0A087WU78 (UniProtKB/TrEMBL)
- Sequence:	show sequence MALACCMPKNAAVSNLDIESKLSVYYRAPWHQQRNIFLPATRPPCVEELHRHARQSLQALRREHRSRSDRREQRAAAPLSIAAPPLPAYPPAHSQRRREFKDRHFLTFNSTRSPSPTECCHMTPWSRK SHPPEDEDTDVMLGQRPKNPIHNIPSTLDKQTNWSKALPLPTPEEKMKQDAQVISSCIIPINVTGVGFDREASIRCSLVHSQSVLQRRRKLRRRKTISGIPRRVQQEIDSDESPVARERNVIVHTNPD PSNTVNRISGTRDSECQTEDILIAAPSRRRIRAQRGQSIAASLSHSAGNISALADKGDTMFTPAVSSRTRSRSLPREGNRGGDAEPKVGAKPSAYEEGESFVGDHERTPNDFSEAPSSPSAQDHQPTL GLACSQHLHSPQHKLSERGRSRLSRMAADSGSCDISSNSDTFGSPIHCISTAGVLLSSHMDQKDDHQSSSGNWSGSSSTCPSQTSETIPPAASPPLTGSSHCDSELSLNTAPHANEDASVFVTEQYND HLDKVRGHRANSFTSTVADLLDDPNNSNTSDSEWNYLHHHHDASCRQDFSPERPKADSLGCPSFTSMATYDSFLEKSPSDKADTSSHFSVDTEGYYTSMHFDCGLKGNKSYVCHYAALGPENGQGVGA SPGLPDCAWQDYLDHKRQGRPSISFRKPKAKPTPPKRSSSLRKSDGNADISEKKEPKISSGQHLPHSSREMKLPLDFANTPSRMENANLPTKQEPSWINQSEQGIKEPQLDASDIPPFKDEVAESTHY ADLWLLNDLKTNDPYRSLSNSSTATGTTVIECIKSPESSESQTSQSESRATTPSLPSVDNEFKLASPEKLAGLASPSSGYSSQSETPTSSFPTAFFSGPLSPGGSKRKPKVPERKSSLQQPSLKDGTI SLSKDLELPIIPPTHLDLSALHNVLNKPFHHRHPLHVFTHNKQNTVGETLRSNPPPSLAITPTILKSVNLRSINKSEEVKQKEENNTDLPYLEESTLTTAALSPSKIRPHTANKSVSRQYSTEDTILS FLDSSAVEMGPDKLHLEKNSTFDVKNRCDPETITSAGSSLLDSNVTKDQVRTETEPIPENTPTKNCAFPTEGFQRVSAARPNDLDGKIIQYGPGPDETLEQVQKAPSAGLEEVAQPESVDVITSQSDS PTRATDVSNQFKHQFVMSRHHDKVPGTISYESEITSVNSFPEKCSKQENIASGISAKSASDNSKAEETQGNVDEASLKESSPSDDSIISPLSEDSQAEAEGVFVSPNKPRTTEDLFAVIHRSKRKVLG RKDSGDMSVRSKSRAPLSSSSSSASSITSPSSNVTTPNSQRSPGLIYRNAKKSNTSNEEFKLLLLKKGSRSDSSYRMSATEILKSPILPKPPGELTAESPQSTDDAHQGSQGAEALSPLSPCSPRVNA EGFSSKSFATSASARVGRSRAPPAASSSRYSVRCRLYNTPMQAISEGETENSDGSPHDDRSSQSST hide sequence

RefSeq Acc Id:	NP_001278796 ⟸ NM_001291867
- Peptide Label:	isoform 3
- UniProtKB:	Q5J7Q1 (UniProtKB/Swiss-Prot), Q5J7Q0 (UniProtKB/Swiss-Prot), E2DH69 (UniProtKB/Swiss-Prot), B7ZVX8 (UniProtKB/Swiss-Prot), Q68DR5 (UniProtKB/Swiss-Prot), Q6T4R5 (UniProtKB/Swiss-Prot), A0A087WU78 (UniProtKB/TrEMBL)
- Sequence:	show sequence MPFAKRIVEPQWLCRQRRPAPGPAVDASGGSAEPPPPLQPPGRRDLDEVEAPGPEEPARAVPAPSGLPPPPPPLPAPADQTQPPHGEASVAGEESTAGIPEAAPAAGEASSAAAAAAVLLMLDLCAVS NAALARVLRQLSDVARHACSLFQELESDIQLTHRRVWALQGKLGGVQRVLSTLDPKQEAVPVSNLDIESKLSVYYRAPWHQQRNIFLPATRPPCVEELHRHARQSLQALRREHRSRSDRREQRAAAPL SIAAPPLPAYPPAHSQRRREFKDRHFLTFNSTRSPSPTECCHMTPWSRKSHPPEDEDTDVMLGQRPKNPIHNIPSTLDKQTNWSKALPLPTPEEKMKQDAQVISSCIIPINVTGVGFDREASIRCSLV HSQSVLQRRRKLRRRKTISGIPRRVQQEIDSDESPVARERNVIVHTNPDPSNTVNRISGTRDSECQTEDILIAAPSRRRIRAQRGQSIAASLSHSAGNISALADKGDTMFTPAVSSRTRSRSLPREGN RGGDAEPKVGAKPSAYEEGESFVGDHERTPNDFSEAPSSPSAQDHQPTLGLACSQHLHSPQHKLSERGRSRLSRMAADSGSCDISSNSDTFGSPIHCISTAGVLLSSHMDQKDDHQSSSGNWSGSSST CPSQTSETIPPAASPPLTGSSHCDSELSLNTAPHANEDASVFVTEQYNDHLDKVRGHRANSFTSTVADLLDDPNNSNTSDSEWNYLHHHHDASCRQDFSPERPKADSLGCPSFTSMATYDSFLEKSPS DKADTSSHFSVDTEGYYTSMHFDCGLKGNKSYVCHYAALGPENGQGVGASPGLPDCAWQDYLDHKRQGRPSISFRKPKAKPTPPKRSSSLRKSDGNADISEKKEPKISSGQHLPHSSREMKLPLDFAN TPSRMENANLPTKQEPSWINQSEQGIKEPQLDASDIPPFKDEVAESTHYADLWLLNDLKTNDPYRSLSNSSTATGTTVIECIKSPESSESQTSQSESRATTPSLPSVDNEFKLASPEKLAGLASPSSG YSSQSETPTSSFPTAFFSGPLSPGGSKRKPKVPERKSSLQQPSLKDGTISLSKDLELPIIPPTHLDLSALHNVLNKPFHHRHPLHVFTHNKQNTVGETLRSNPPPSLAITPTILKSVNLRSINKSEEV KQKEENNTDLPYLEESTLTTAALSPSKIRPHTANKSVSRQYSTEDTILSFLDSSAVEMGPDKLHLEKNSTFDVKNRCDPETITSAGSSLLDSNVTKDQVRTETEPIPENTPTKNCAFPTEGFQRVSAA RPNDLDGKIIQYGPGPDETLEQVQKAPSAGLEEVAQPESVDVITSQSDSPTRATDVSNQFKHQFVMSRHHDKVPGTISYESEITSVNSFPEKCSKQENIASGISAKSASDNSKAEETQGNVDEASLKE SSPSDDSIISPLSEDSQAEAEGVFVSPNKPRTTEDLFAVIHRSKRKVLGRKDSGDMSVRSKSRAPLSSSSSSASSITSPSSNVTTPNSQRSPGLIYRNAKKSNTSNEEFKLLLLKKGSRSDSSYRMSA TEILKSPILPKPPGELTAESPQSTDDAHQGSQGAEALSPLSPCSPRVNAEGFSSKSFATSASARVGRSRAPPAASSSRYSVRCRLYNTPMQAISEGETENSDGSPHDDRSSQSST hide sequence

RefSeq Acc Id:	NP_001278797 ⟸ NM_001291868
- Peptide Label:	isoform 4
- UniProtKB:	A0A087WU78 (UniProtKB/TrEMBL)
- Sequence:	show sequence MALACCMPKNAAVSNLDIESKLSVYYRAPWHQQRNIFLPATRPPCVEELHRHARQSLQALRREHRSRSDRREQRAAAPLSIAAPPLPAYPPAHSQRRREFKDRHFLTSHPPEDEDTDVMLGQRPKNPI HNIPSTLDKQTNWSKALPLPTPEEKMKQDAQVISSCIIPINVTGVGFDREASIRCSLVHSQSVLQRRRKLRRRKTISGIPRRVQQEIDSDESPVARERNVIVHTNPDPSNTVNRISGTRDSECQTEDI LIAAPSRRRIRAQRGQSIAASLSHSAGNISALADKGDTMFTPAVSSRTRSRSLPREGNRGGDAEPKVGAKPSAYEEGESFVGDHERTPNDFSEAPSSPSAQDHQPTLGLACSQHLHSPQHKLSERGRS RLSRMAADSGSCDISSNSDTFGSPIHCISTAGVLLSSHMDQKDDHQSSSGNWSGSSSTCPSQTSETIPPAASPPLTGSSHCDSELSLNTAPHANEDASVFVTEQYNDHLDKVRGHRANSFTSTVADLL DDPNNSNTSDSEWNYLHHHHDASCRQDFSPERPKADSLGCPSFTSMATYDSFLEKSPSDKADTSSHFSVDTEGYYTSMHFDCGLKGNKSYVCHYAALGPENGQGVGASPGLPDCAWQDYLDHKRQGRP SISFRKPKAKPTPPKRSSSLRKSDGNADISEKKEPKISSGQHLPHSSREMKLPLDFANTPSRMENANLPTKQEPSWINQSEQGIKEPQLDASDIPPFKDEVAESTHYADLWLLNDLKTNDPYRSLSNS STATGTTVIECIKSPESSESQTSQSESRATTPSLPSVDNEFKLASPEKLAGLASPSSGYSSQSETPTSSFPTAFFSGPLSPGGSKRKPKVPERKSSLQQPSLKDGTISLSKDLELPIIPPTHLDLSAL HNVLNKPFHHRHPLHVFTHNKQNTVGETLRSNPPPSLAITPTILKSVNLRSINKSEEVKQKEENNTDLPYLEESTLTTAALSPSKIRPHTANKSVSRQYSTEDTILSFLDSSAVEMGPDKLHLEKNST FDVKNRCDPETITSAGSSLLDSNVTKDQVRTETEPIPENTPTKNCAFPTEGFQRVSAARPNDLDGKIIQYGPGPDETLEQVQKAPSAGLEEVAQPESVDVITSQSDSPTRATDVSNQFKHQFVMSRHH DKVPGTISYESEITSVNSFPEKCSKQENIASGISAKSASDNSKAEETQGNVDEASLKESSPSDDSIISPLSEDSQAEAEGVFVSPNKPRTTEDLFAVIHRSKRKVLGRKDSGDMSVRSKSRAPLSSSS SSASSITSPSSNVTTPNSQRSPGLIYRNAKKSNTSNEEFKLLLLKKGSRSDSSYRMSATEILKSPILPKPPGELTAESPQSTDDAHQGSQGAEALSPLSPCSPRVNAEGFSSKSFATSASARVGRSRA PPAASSSRYSVRCRLYNTPMQAISEGETENSDGSPHDDRSSQSST hide sequence

RefSeq Acc Id:	XP_011543830 ⟸ XM_011545528
- Peptide Label:	isoform X2
- UniProtKB:	A0A087WU78 (UniProtKB/TrEMBL)
- Sequence:	show sequence MLGQRPKNPIHNIPSTLDKQTNWSKALPLPTPEEKMKQDAQVISSCIIPINVTGVGFDREASIR CSLVHSQSVLQRRRKLRRRKTISGIPRRVQQEIDSDESPVARERNVIVHTNPDPSNTVNRISGTRDSECQTEDILIAAPSRRRIRAQRGQSIAASLSHSAGNISALADKGDTMFTPAVSSRTRSRSLP REGNRGGDAEPKVGAKPSAYEEGESFVGDHERTPNDFSEAPSSPSAQDHQPTLGLACSQHLHSPQHKLSERGRSRLSRMAADSGSCDISSNSDTFGSPIHCISTAGVLLSSHMDQKDDHQSSSGNWSG SSSTCPSQTSETIPPAASPPLTGSSHCDSELSLNTAPHANEDASVFVTEQYNDHLDKVRGHRANSFTSTVADLLDDPNNSNTSDSEWNYLHHHHDASCRQDFSPERPKADSLGCPSFTSMATYDSFLE KSPSDKADTSSHFSVDTEGYYTSMHFDCGLKGNKSYVCHYAALGPENGQGVGASPGLPDCAWQDYLDHKRQGRPSISFRKPKAKPTPPKRSSSLRKSDGNADISEKKEPKISSGQHLPHSSREMKLPL DFANTPSRMENANLPTKQEPSWINQSEQGIKEPQLDASDIPPFKDEVAESTHYADLWLLNDLKTNDPYRSLSNSSTATGTTVIECIKSPESSESQTSQSESRATTPSLPSVDNEFKLASPEKLAGLAS PSSGYSSQSETPTSSFPTAFFSGPLSPGGSKRKPKVPERKSSLQQPSLKDGTISLSKDLELPIIPPTHLDLSALHNVLNKPFHHRHPLHVFTHNKQNTVGETLRSNPPPSLAITPTILKSVNLRSINK SEEVKQKEENNTDLPYLEESTLTTAALSPSKIRPHTANKSVSRQYSTEDTILSFLDSSAVEMGPDKLHLEKNSTFDVKNRCDPETITSAGSSLLDSNVTKDQVRTETEPIPENTPTKNCAFPTEGFQR VSAARPNDLDGKIIQYGPGPDETLEQVQKAPSAGLEEVAQPESVDVITSQSDSPTRATDVSNQFKHQFVMSRHHDKVPGTISYESEITSVNSFPEKCSKQENIASGISAKSASDNSKAEETQGNVDEA SLKESSPSDDSIISPLSEDSQAEAEGVFVSPNKPRTTEDLFAVIHRSKRKVLGRKDSGDMSVRSKSRAPLSSSSSSASSITSPSSNVTTPNSQRSPGLIYRNAKKSNTSNEEFKLLLLKKGSRSDSSY RMSATEILKSPILPKPPGELTAESPQSTDDAHQGSQGAEALSPLSPCSPRVNAEGFSSKSFATSASARVGRSRAPPAASSSRYSVRCRLYNTPMQAISEGETENSDGSPHDDRSSQSST hide sequence

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6T4R5-F1-model_v2	AlphaFold	Q6T4R5	1-1651	view protein structure

RGD ID:

6809070

Promoter ID:

HG_KWN:66132

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

OTTHUMT00000059120

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	17,303,406 - 17,304,207 (+)	MPROMDB

RGD ID:

13604848

Promoter ID:

EPDNEW_H28609

Type:

initiation region

Name:

NHS_1

Description:

NHS actin remodeling regulator

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	17,375,418 - 17,375,478	EPDNEW

RGD ID:

6809071

Promoter ID:

HG_KWN:66136

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3

Transcripts:

UC004CXY.1, UC004CXZ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	17,563,031 - 17,563,531 (+)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	NHS	COSMIC
Ensembl Genes	ENSG00000188158	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000380060	ENTREZGENE
	ENST00000380060.7	UniProtKB/Swiss-Prot
	ENST00000398097	ENTREZGENE
	ENST00000398097.7	UniProtKB/Swiss-Prot
	ENST00000617601	ENTREZGENE
	ENST00000676302	ENTREZGENE
	ENST00000676302.1	UniProtKB/Swiss-Prot
Gene3D-CATH	1.20.5.340	UniProtKB/Swiss-Prot
GTEx	ENSG00000188158	GTEx
HGNC ID	HGNC:7820	ENTREZGENE
Human Proteome Map	NHS	Human Proteome Map
InterPro	NHS_fam	UniProtKB/Swiss-Prot
KEGG Report	hsa:4810	UniProtKB/Swiss-Prot
NCBI Gene	4810	ENTREZGENE
OMIM	300457	OMIM
PANTHER	NANCE-HORAN SYNDROME PROTEIN	UniProtKB/Swiss-Prot
	NANCE-HORAN SYNDROME PROTEIN	UniProtKB/Swiss-Prot
Pfam	NHS	UniProtKB/Swiss-Prot
PharmGKB	PA31622	PharmGKB
UniProt	A0A087WU78	ENTREZGENE, UniProtKB/TrEMBL
	A0A3B3ITB2_HUMAN	UniProtKB/TrEMBL
	B7ZVX8	ENTREZGENE
	E2DH69	ENTREZGENE
	NHS_HUMAN	UniProtKB/Swiss-Prot
	Q5J7Q0	ENTREZGENE
	Q5J7Q1	ENTREZGENE
	Q68DR5	ENTREZGENE
	Q6T4R5	ENTREZGENE
UniProt Secondary	B7ZVX8	UniProtKB/Swiss-Prot
	E2DH69	UniProtKB/Swiss-Prot
	Q5J7Q0	UniProtKB/Swiss-Prot
	Q5J7Q1	UniProtKB/Swiss-Prot
	Q68DR5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-08-23	NHS	NHS actin remodeling regulator	CCT	cataract, congenital, total	Data merged from RGD:1350851	737654	PROVISIONAL
2015-11-24	NHS	NHS actin remodeling regulator	NHS	Nance-Horan syndrome (congenital cataracts and dental anomalies)	Symbol and/or name change	5135510	APPROVED

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


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


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