ARSH (arylsulfatase family member H)

Gene: ARSH (arylsulfatase family member H) Homo sapiens

Analyze

Symbol:

ARSH

Name:

arylsulfatase family member H

RGD ID:

1605805

HGNC Page

HGNC:32488

Description:

Predicted to enable arylsulfatase activity. Predicted to be located in endoplasmic reticulum lumen.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

arylsulfatase family, member H; arylsulfatase H; ASH; sulfatase

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Chinchilla lanigera (long-tailed chinchilla):	Arsh (arylsulfatase family member H)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ARSH (arylsulfatase family member H)	NCBI	Ortholog
Canis lupus familiaris (dog):	ARSH (arylsulfatase family member H)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	ARSH (arylsulfatase family member H)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Sts (steroid sulfatase)	HGNC	OrthoDB
Canis lupus familiaris (dog):	STS (steroid sulfatase)	HGNC	OrthoDB
Canis lupus familiaris (dog):	ARSL (arylsulfatase L)	HGNC	OrthoDB
Canis lupus familiaris (dog):	ARSF (arylsulfatase F)	HGNC	OrthoDB
Alliance orthologs ³
Danio rerio (zebrafish):	arsh (arylsulfatase H)	Alliance	DIOPT (OMA\|OrthoFinder\|PhylomeDB\|ZFIN)
Caenorhabditis elegans (roundworm):	sul-2	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoFinder\|SonicParanoid)
Xenopus laevis (African clawed frog):	arsh.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	arsh	Alliance	DIOPT (OMA\|OrthoFinder\|PANTHER\|PhylomeDB)

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	3,006,546 - 3,034,111 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	3,006,546 - 3,034,111 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	2,924,587 - 2,952,152 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	2,934,654 - 2,961,426 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	X	7,204,898 - 7,231,677 (+)	NCBI		Celera
Cytogenetic Map	X	p22.33	NCBI
HuRef	X	867,096 - 894,061 (+)	NCBI		HuRef
CHM1_1	X	2,955,881 - 2,982,583 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	2,619,025 - 2,646,585 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autism spectrum disorder (EXP)

autistic disorder (IAGP)

genetic disease (IAGP)

Neurodevelopmental Disorders (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2-palmitoylglycerol (EXP)

4,4'-sulfonyldiphenol (EXP)

aflatoxin B1 (EXP)

benzo[a]pyrene (EXP)

benzo[e]pyrene (EXP)

methapyrilene (EXP)

propanal (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Cellular Component

endoplasmic reticulum lumen (TAS)

membrane (IEA)

Molecular Function

arylsulfatase activity (IBA,IEA,TAS)

hydrolase activity (IEA)

metal ion binding (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autism (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:16174644	PMID:21873635	PMID:33961781

Genomics

Comparative Map Data

ARSH
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	3,006,546 - 3,034,111 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	3,006,546 - 3,034,111 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	2,924,587 - 2,952,152 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	2,934,654 - 2,961,426 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	X	7,204,898 - 7,231,677 (+)	NCBI		Celera
Cytogenetic Map	X	p22.33	NCBI
HuRef	X	867,096 - 894,061 (+)	NCBI		HuRef
CHM1_1	X	2,955,881 - 2,982,583 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	2,619,025 - 2,646,585 (+)	NCBI		T2T-CHM13v2.0

Arsh
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955499	1,787,356 - 1,818,206 (+)	NCBI	ChiLan1.0	ChiLan1.0

ARSH
(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	2,747,372 - 2,775,404 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	2,751,044 - 2,779,076 (+)	NCBI		NHGRI_mPanPan1
PanPan1.1	X	2,952,075 - 2,974,623 (+)	NCBI	panpan1.1	PanPan1.1	panPan2

ARSH
(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	1,558,052 - 1,586,248 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	1,547,942 - 1,586,248 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	1,518,574 - 1,537,348 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	1,481,944 - 1,512,032 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	1,481,703 - 1,511,232 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	1,482,877 - 1,501,681 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	1,498,962 - 1,517,756 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	1,535,776 - 1,554,595 (+)	NCBI		UU_Cfam_GSD_1.0

ARSH
(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	1,204,165 - 1,232,409 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	1,204,355 - 1,231,752 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666056	3,094,326 - 3,122,070 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in ARSH
39 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	copy number gain	See cases [RCV000133911]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	copy number loss	See cases [RCV000050811]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000050699]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	Global developmental delay [RCV000050386]\|See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000050697]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1	copy number loss	See cases [RCV000051026]	ChrX:10679..52809182 [GRCh38] ChrX:60679..52838206 [GRCh37] ChrX:679..52854931 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11240163)x1	copy number loss	See cases [RCV000051034]	ChrX:10679..11240163 [GRCh38] ChrX:60679..11258283 [GRCh37] ChrX:679..11168204 [NCBI36] ChrX:Xp22.33-22.2	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 Xp22.33-22.32(chrX:40904-4469489)x3	copy number gain	See cases [RCV000052326]	ChrX:40904..4469489 [GRCh38] ChrX:90904..4387530 [GRCh37] ChrX:30904..4397530 [NCBI36] ChrX:Xp22.33-22.32	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(chrX:26102-3730888)x3	copy number gain	See cases [RCV000052323]	ChrX:26102..3730888 [GRCh38] ChrX:76102..3648929 [GRCh37] ChrX:16102..3658929 [NCBI36] ChrX:Xp22.33	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|See cases [RCV000052327]	ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	copy number gain	See cases [RCV000052324]	ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.3(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 Xp22.33-11.23(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: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(chrX:2960878-3567038)x0	copy number loss	See cases [RCV000053024]	ChrX:2960878..3567038 [GRCh38] ChrX:2878919..3485079 [GRCh37] ChrX:2888919..3495079 [NCBI36] ChrX:Xp22.33	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 Xp22.33-11.21(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 Xp22.33-22.31(chrX:26102-8495903)x1	copy number loss	See cases [RCV000052991]	ChrX:26102..8495903 [GRCh38] ChrX:76102..8463944 [GRCh37] ChrX:16102..8423944 [NCBI36] ChrX:Xp22.33-22.31	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	copy number loss	See cases [RCV000053007]	ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-22.11(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 Xp22.33-22.2(chrX:20140-10259836)x1	copy number loss	See cases [RCV000052983]	ChrX:20140..10259836 [GRCh38] ChrX:70140..10227876 [GRCh37] ChrX:10140..10187876 [NCBI36] ChrX:Xp22.33-22.2	pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-7515914)x0	copy number loss	See cases [RCV000052967]	ChrX:10679..7515914 [GRCh38] ChrX:60679..7433955 [GRCh37] ChrX:679..7443955 [NCBI36] ChrX:Xp22.33-22.31	pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11803947)x1	copy number loss	See cases [RCV000052968]	ChrX:10679..11803947 [GRCh38] ChrX:60679..11822066 [GRCh37] ChrX:679..11731987 [NCBI36] ChrX:Xp22.33-22.2	pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-6495923)x1	copy number loss	See cases [RCV000052969]	ChrX:10679..6495923 [GRCh38] ChrX:60679..6413964 [GRCh37] ChrX:679..6423964 [NCBI36] ChrX:Xp22.33-22.31	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 Xp22.33-22.2(chrX:2777300-10034145)x1	copy number loss	See cases [RCV000053008]	ChrX:2777300..10034145 [GRCh38] ChrX:2695341..10002185 [GRCh37] ChrX:2705341..9962185 [NCBI36] ChrX:Xp22.33-22.2	pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:2782275-8961059)x0	copy number loss	See cases [RCV000053011]	ChrX:2782275..8961059 [GRCh38] ChrX:2700316..8929100 [GRCh37] ChrX:2710316..8889100 [NCBI36] ChrX:Xp22.33-22.31	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 Xp22.33-11.21(chrX:10679-55550898)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|See cases [RCV000052971]	ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 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 Xp22.33-11.22(chrX:10479-54179172)x3	copy number gain	See cases [RCV000053817]	ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053818]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053818]\|See cases [RCV000053818]	ChrX:10679..8480277 [GRCh38] ChrX:60679..8448318 [GRCh37] ChrX:Xp22.33-22.31	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	copy number loss	See cases [RCV000133792]	ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1	copy number loss	See cases [RCV000133817]	ChrX:10701..52857805 [GRCh38] ChrX:60701..52886834 [GRCh37] ChrX:701..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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: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:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x3	copy number gain	See cases [RCV000053818]	ChrX:10679..8480277 [GRCh38] ChrX:60679..8448318 [GRCh37] ChrX:679..8408318 [NCBI36] ChrX:Xp22.33-22.31	pathogenic
GRCh38/hg38 Xp22.33-22.32(chrX:2963899-5016927)x3	copy number gain	See cases [RCV000133757]	ChrX:2963899..5016927 [GRCh38] ChrX:2881940..4934968 [GRCh37] ChrX:2891940..4944968 [NCBI36] ChrX:Xp22.33-22.32	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:10679-156022826)x4	copy number gain	See cases [RCV000133654]	ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	copy number loss	See cases [RCV000134568]	ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-22.31(chrX:10679-9459643)x1	copy number loss	See cases [RCV000134136]	ChrX:10679..9459643 [GRCh38] ChrX:60679..9427683 [GRCh37] ChrX:679..9387683 [NCBI36] ChrX:Xp22.33-22.31	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	copy number loss	See cases [RCV000134026]	ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 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 Xp22.33-22.31(chrX:10001-6536888)x1	copy number loss	See cases [RCV000135304]	ChrX:10001..6536888 [GRCh38] ChrX:17642..6454929 [GRCh37] ChrX:1..6464929 [NCBI36] ChrX:Xp22.33-22.31	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:1202712-7928490)x0	copy number loss	See cases [RCV000135329]	ChrX:1202712..7928490 [GRCh38] ChrX:1321581..7896531 [GRCh37] ChrX:1281581..7856531 [NCBI36] ChrX:Xp22.33-22.31	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(chrX:10679-3758140)x0	copy number loss	See cases [RCV000135635]	ChrX:10679..3758140 [GRCh38] ChrX:60679..3676181 [GRCh37] ChrX:679..3686181 [NCBI36] ChrX:Xp22.33	pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x1	copy number loss	See cases [RCV000135756]	ChrX:10679..8480277 [GRCh38] ChrX:60679..8448318 [GRCh37] ChrX:679..8408318 [NCBI36] ChrX:Xp22.33-22.31	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 Xp22.33-22.31(chrX:10701-8466385)x1	copy number loss	See cases [RCV000136524]	ChrX:10701..8466385 [GRCh38] ChrX:60701..8434426 [GRCh37] ChrX:701..8394426 [NCBI36] ChrX:Xp22.33-22.31	pathogenic
GRCh38/hg38 Xp22.33(chrX:2751384-3349640)x3	copy number gain	See cases [RCV000136535]	ChrX:2751384..3349640 [GRCh38] ChrX:2669425..3267681 [GRCh37] ChrX:2679425..3277681 [NCBI36] ChrX:Xp22.33	uncertain significance
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 Xp22.33-22.2(chrX:2936461-17287323)x2	copy number gain	See cases [RCV000135895]	ChrX:2936461..17287323 [GRCh38] ChrX:2854502..17305446 [GRCh37] ChrX:2864502..17215367 [NCBI36] ChrX:Xp22.33-22.2	pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8129470)x3	copy number gain	See cases [RCV000136091]	ChrX:10701..8129470 [GRCh38] ChrX:60701..8097511 [GRCh37] ChrX:701..8057511 [NCBI36] ChrX:Xp22.33-22.31	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	copy number loss	See cases [RCV000136097]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	copy number loss	See cases [RCV000136094]	ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 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 Xp22.33-22.31(chrX:20140-9459643)x0	copy number loss	See cases [RCV000136885]	ChrX:20140..9459643 [GRCh38] ChrX:70140..9427683 [GRCh37] ChrX:10140..9387683 [NCBI36] ChrX:Xp22.33-22.31	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:2765636-6317066)x1	copy number loss	See cases [RCV000136749]	ChrX:2765636..6317066 [GRCh38] ChrX:2683677..6235107 [GRCh37] ChrX:2693677..6245107 [NCBI36] ChrX:Xp22.33-22.31	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(chrX:2782275-3355873)x2	copy number gain	See cases [RCV000137519]	ChrX:2782275..3355873 [GRCh38] ChrX:2700316..3273914 [GRCh37] ChrX:2710316..3283914 [NCBI36] ChrX:Xp22.33	likely benign
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	copy number loss	See cases [RCV000137552]	ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1	copy number loss	See cases [RCV000137252]	ChrX:10679..16187419 [GRCh38] ChrX:60679..16205542 [GRCh37] ChrX:679..16115463 [NCBI36] ChrX:Xp22.33-22.2	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: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 Xp22.33-11.23(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-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 Xp22.33-21.1(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 Xp22.33-22.31(chrX:10701-8147112)x1	copy number loss	See cases [RCV000137882]	ChrX:10701..8147112 [GRCh38] ChrX:60701..8115153 [GRCh37] ChrX:701..8075153 [NCBI36] ChrX:Xp22.33-22.31	pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8568401)x0	copy number loss	See cases [RCV000137883]	ChrX:10701..8568401 [GRCh38] ChrX:60701..8536442 [GRCh37] ChrX:701..8496442 [NCBI36] ChrX:Xp22.33-22.31	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 Xp22.33-22.2(chrX:253124-12931344)x1	copy number loss	See cases [RCV000138680]	ChrX:253124..12931344 [GRCh38] ChrX:169791..12949463 [GRCh37] ChrX:109791..12859384 [NCBI36] ChrX:Xp22.33-22.2	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(chrX:3026061-3570788)x2	copy number gain	See cases [RCV000139339]	ChrX:3026061..3570788 [GRCh38] ChrX:2944102..3488829 [GRCh37] ChrX:2954102..3498829 [NCBI36] ChrX:Xp22.33	uncertain significance
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(chrX:1718254-3700497)x0	copy number loss	See cases [RCV000138953]	ChrX:1718254..3700497 [GRCh38] ChrX:1837147..3618538 [GRCh37] ChrX:1797147..3628538 [NCBI36] ChrX:Xp22.33	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-q28(chrX:20297-156016920)x3	copy number gain	See cases [RCV000141401]	ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	copy number gain	See cases [RCV000140786]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1	copy number loss	See cases [RCV000140711]	ChrX:10701..53750424 [GRCh38] ChrX:60701..53776922 [GRCh37] ChrX:701..53793647 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	copy number loss	See cases [RCV000140787]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-22.2(chrX:251879-9798930)x1	copy number loss	See cases [RCV000141931]	ChrX:251879..9798930 [GRCh38] ChrX:168546..9766970 [GRCh37] ChrX:108546..9726970 [NCBI36] ChrX:Xp22.33-22.2	pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:251879-6583978)x1	copy number loss	See cases [RCV000141660]	ChrX:251879..6583978 [GRCh38] ChrX:168546..6502019 [GRCh37] ChrX:108546..6512019 [NCBI36] ChrX:Xp22.33-22.31	pathogenic
GRCh38/hg38 Xp22.33(chrX:2929855-3238763)x2	copy number gain	See cases [RCV000141536]	ChrX:2929855..3238763 [GRCh38] ChrX:2847896..3156804 [GRCh37] ChrX:2857896..3166804 [NCBI36] ChrX:Xp22.33	uncertain significance
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-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 Xp22.33-11.22(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 Xp22.33-22.2(chrX:251879-16967290)x1	copy number loss	See cases [RCV000142053]	ChrX:251879..16967290 [GRCh38] ChrX:168546..16985413 [GRCh37] ChrX:108546..16895334 [NCBI36] ChrX:Xp22.33-22.2	pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8423970)x1	copy number loss	See cases [RCV000143070]	ChrX:10701..8423970 [GRCh38] ChrX:60701..8392011 [GRCh37] ChrX:701..8352011 [NCBI36] ChrX:Xp22.33-22.31	pathogenic
GRCh38/hg38 Xp22.33(chrX:2782037-3306245)x2	copy number gain	See cases [RCV000142994]	ChrX:2782037..3306245 [GRCh38] ChrX:2700078..3224286 [GRCh37] ChrX:2710078..3234286 [NCBI36] ChrX:Xp22.33	likely benign
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 Xp22.33-22.31(chrX:2790845-6495923)x0	copy number loss	See cases [RCV000142746]	ChrX:2790845..6495923 [GRCh38] ChrX:2708886..6413964 [GRCh37] ChrX:2718886..6423964 [NCBI36] ChrX:Xp22.33-22.31	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1	copy number loss	See cases [RCV000143348]	ChrX:10701..53131191 [GRCh38] ChrX:60701..53047381 [GRCh37] ChrX:701..53177098 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	copy number loss	See cases [RCV000143441]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	copy number gain	See cases [RCV000143433]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	copy number loss	See cases [RCV000143130]	ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:1539767-9473964)x0	copy number loss	See cases [RCV000143697]	ChrX:1539767..9473964 [GRCh38] ChrX:1658660..9442004 [GRCh37] ChrX:1618660..9402004 [NCBI36] ChrX:Xp22.33-22.31	pathogenic
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
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	copy number loss	See cases [RCV000239814]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-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)x3	copy number gain	See cases [RCV000239834]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	copy number gain	See cases [RCV000239989]	ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33(chrX:2576743-2951072)x3	copy number gain	See cases [RCV000239940]	ChrX:2576743..2951072 [GRCh37] ChrX:Xp22.33	uncertain significance
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:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33(chrX:71267-3248235)x1	copy number loss	See cases [RCV000240278]	ChrX:71267..3248235 [GRCh37] ChrX:Xp22.33	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 Xp22.33-21.3(chrX:1378591-25940311)x2	copy number gain	See cases [RCV000240441]	ChrX:1378591..25940311 [GRCh37] ChrX:Xp22.33-21.3	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 Xp22.33-22.2(chrX:71267-12032064)x1	copy number loss	See cases [RCV000240338]	ChrX:71267..12032064 [GRCh37] ChrX:Xp22.33-22.2	pathogenic
GRCh37/hg19 Xp22.33(chrX:2766830-2920785)x2	copy number gain	Hypoplastic left heart syndrome [RCV001251055]	ChrX:2766830..2920785 [GRCh37] ChrX:Xp22.33	uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1	copy number loss	not provided [RCV000753275]	ChrX:60814..55476165 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
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: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-q28(chrX:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33(chrX:2707626-2937367)x2	copy number gain	See cases [RCV000446803]	ChrX:2707626..2937367 [GRCh37] ChrX:Xp22.33	uncertain significance
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 Xp22.33-22.31(chrX:70297-8654089)x0	copy number loss	See cases [RCV000446121]	ChrX:70297..8654089 [GRCh37] ChrX:Xp22.33-22.31	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	See cases [RCV000446932]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3	copy number gain	See cases [RCV000446310]	ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3	copy number gain	See cases [RCV000447253]	ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 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(chrX:2233394-3553923)x1	copy number loss	See cases [RCV000448895]	ChrX:2233394..3553923 [GRCh37] ChrX:Xp22.33	uncertain significance
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 Xp22.33-11.1(chrX:168546-58140271)x1	copy number loss	See cases [RCV000447773]	ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33(chrX:2703632-3085643)x2	copy number gain	See cases [RCV000448956]	ChrX:2703632..3085643 [GRCh37] ChrX:Xp22.33	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(chrX:168546-2946211)x3	copy number gain	See cases [RCV000512044]	ChrX:168546..2946211 [GRCh37] ChrX:Xp22.33	uncertain significance
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
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	copy number loss	See cases [RCV000510382]	ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1	copy number loss	See cases [RCV000510308]	ChrX:168546..35841052 [GRCh37] ChrX:Xp22.33-21.1	pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	copy number loss	See cases [RCV000510419]	ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	copy number loss	See cases [RCV000510437]	ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)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 Xp22.33(chrX:168547-3880686)x0	copy number loss	See cases [RCV000511695]	ChrX:168547..3880686 [GRCh37] ChrX:Xp22.33	pathogenic
GRCh37/hg19 Xp22.33(chrX:168546-3259868)x0	copy number loss	See cases [RCV000511728]	ChrX:168546..3259868 [GRCh37] ChrX:Xp22.33	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 Xp22.33-22.31(chrX:168546-7721374)x1	copy number loss	See cases [RCV000511828]	ChrX:168546..7721374 [GRCh37] ChrX:Xp22.33-22.31	pathogenic
GRCh37/hg19 Xp22.33-22.32(chrX:168546-5896155)x1	copy number loss	See cases [RCV000510877]	ChrX:168546..5896155 [GRCh37] ChrX:Xp22.33-22.32	pathogenic
GRCh37/hg19 Xp22.33(chrX:2465155-3008237)x3	copy number gain	See cases [RCV000511030]	ChrX:2465155..3008237 [GRCh37] ChrX:Xp22.33	likely benign
GRCh37/hg19 Xp22.33-22.2(chrX:168546-9868031)x0	copy number loss	See cases [RCV000510906]	ChrX:168546..9868031 [GRCh37] ChrX:Xp22.33-22.2	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
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(chrX:2879716-3369793)x2	copy number gain	See cases [RCV000512199]	ChrX:2879716..3369793 [GRCh37] ChrX:Xp22.33	uncertain significance
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
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_001011719.2(ARSH):c.340+18T>G	single nucleotide variant	not provided [RCV000675843]	ChrX:3013190 [GRCh38] ChrX:2931231 [GRCh37] ChrX:Xp22.33	likely benign
NM_001011719.2(ARSH):c.387T>C (p.Cys129=)	single nucleotide variant	not provided [RCV000675844]	ChrX:3015016 [GRCh38] ChrX:2933057 [GRCh37] ChrX:Xp22.33	benign
NM_001011719.2(ARSH):c.428T>G (p.Val143Gly)	single nucleotide variant	not provided [RCV000675846]	ChrX:3015057 [GRCh38] ChrX:2933098 [GRCh37] ChrX:Xp22.33	likely benign
NM_001011719.2(ARSH):c.563G>A (p.Arg188His)	single nucleotide variant	not provided [RCV000675847]	ChrX:3015192 [GRCh38] ChrX:2933233 [GRCh37] ChrX:Xp22.33	likely benign
NM_001011719.2(ARSH):c.641G>A (p.Ser214Asn)	single nucleotide variant	not provided [RCV000675848]	ChrX:3015270 [GRCh38] ChrX:2933311 [GRCh37] ChrX:Xp22.33	benign
NM_001011719.2(ARSH):c.949T>C (p.Leu317=)	single nucleotide variant	not provided [RCV000675850]	ChrX:3024068 [GRCh38] ChrX:2942109 [GRCh37] ChrX:Xp22.33	benign
NM_001011719.2(ARSH):c.1072C>T (p.Arg358Cys)	single nucleotide variant	not provided [RCV000675851]	ChrX:3027348 [GRCh38] ChrX:2945389 [GRCh37] ChrX:Xp22.33	benign\|uncertain significance
NM_001011719.2(ARSH):c.192C>T (p.Thr64=)	single nucleotide variant	not provided [RCV000675842]	ChrX:3010129 [GRCh38] ChrX:2928170 [GRCh37] ChrX:Xp22.33	benign
NM_001011719.2(ARSH):c.396G>C (p.Pro132=)	single nucleotide variant	not provided [RCV000675845]	ChrX:3015025 [GRCh38] ChrX:2933066 [GRCh37] ChrX:Xp22.33	likely benign
NM_001011719.2(ARSH):c.1160C>T (p.Thr387Met)	single nucleotide variant	not provided [RCV000675852]	ChrX:3027436 [GRCh38] ChrX:2945477 [GRCh37] ChrX:Xp22.33	benign
NM_001011719.2(ARSH):c.653C>T (p.Thr218Ile)	single nucleotide variant	not provided [RCV000675849]	ChrX:3015282 [GRCh38] ChrX:2933323 [GRCh37] ChrX:Xp22.33	benign
NM_001011719.2(ARSH):c.*8C>G	single nucleotide variant	not provided [RCV000675855]	ChrX:3033393 [GRCh38] ChrX:2951434 [GRCh37] ChrX:Xp22.33	benign
NM_001011719.2(ARSH):c.147C>T (p.Leu49=)	single nucleotide variant	not provided [RCV000675841]	ChrX:3010084 [GRCh38] ChrX:2928125 [GRCh37] ChrX:Xp22.33	benign
NM_001011719.2(ARSH):c.1489C>G (p.Pro497Ala)	single nucleotide variant	not provided [RCV000675853]	ChrX:3033185 [GRCh38] ChrX:2951226 [GRCh37] ChrX:Xp22.33	uncertain significance
NM_001011719.2(ARSH):c.1611A>G (p.Pro537=)	single nucleotide variant	not provided [RCV000675854]	ChrX:3033307 [GRCh38] ChrX:2951348 [GRCh37] ChrX:Xp22.33	likely benign
GRCh37/hg19 Xp22.33-22.31(chrX:168546-7796566)x1	copy number loss	not provided [RCV000684180]	ChrX:168546..7796566 [GRCh37] ChrX:Xp22.33-22.31	pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1	copy number loss	not provided [RCV000684181]	ChrX:168546..16404364 [GRCh37] ChrX:Xp22.33-22.2	pathogenic
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
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 Xp22.33-22.11(chrX:168546-23785738)x1	copy number loss	not provided [RCV000684183]	ChrX:168546..23785738 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:2051958-8135053)x1	copy number loss	not provided [RCV000684231]	ChrX:2051958..8135053 [GRCh37] ChrX:Xp22.33-22.31	uncertain significance
GRCh37/hg19 Xp22.33-22.32(chrX:2703822-4472534)x1	copy number loss	not provided [RCV000684235]	ChrX:2703822..4472534 [GRCh37] ChrX:Xp22.33-22.32	pathogenic
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 Xp22.33-22.2(chrX:2700157-9866420)x3	copy number gain	not provided [RCV000753312]	ChrX:2700157..9866420 [GRCh37] ChrX:Xp22.33-22.2	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1	copy number loss	not provided [RCV000753274]	ChrX:60814..51821765 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33(chrX:2700157-3183507)x2	copy number gain	not provided [RCV000753311]	ChrX:2700157..3183507 [GRCh37] ChrX:Xp22.33	pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:60262-7807206)x1	copy number loss	not provided [RCV000753270]	ChrX:60262..7807206 [GRCh37] ChrX:Xp22.33-22.31	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 [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
Single allele	duplication	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
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 Xp22.33-11.21(chrX:539722-55509385)x1	copy number loss	not provided [RCV001007224]	ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787440]	ChrX:1..47140860 [GRCh37] ChrX:Xp22.33-11.23	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 Xp22.33-22.13(chrX:168546-17502124)x1	copy number loss	not provided [RCV001007200]	ChrX:168546..17502124 [GRCh37] ChrX:Xp22.33-22.13	pathogenic
GRCh37/hg19 Xp22.33-22.32(chrX:168546-5723788)x0	copy number loss	not provided [RCV001007203]	ChrX:168546..5723788 [GRCh37] ChrX:Xp22.33-22.32	pathogenic
NM_001011719.2(ARSH):c.110G>A (p.Arg37His)	single nucleotide variant	not provided [RCV000962775]	ChrX:3010047 [GRCh38] ChrX:2928088 [GRCh37] ChrX:Xp22.33	benign
NM_001011719.2(ARSH):c.1224G>A (p.Met408Ile)	single nucleotide variant	not provided [RCV000965514]	ChrX:3029271 [GRCh38] ChrX:2947312 [GRCh37] ChrX:Xp22.33	benign
GRCh37/hg19 Xp22.33-22.31(chrX:1-9298403)	copy number loss	not provided [RCV000767649]	ChrX:1..9298403 [GRCh37] ChrX:Xp22.33-22.31	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 Xp22.33-21.1(chrX:168546-34753512)x1	copy number loss	not provided [RCV001007559]	ChrX:168546..34753512 [GRCh37] ChrX:Xp22.33-21.1	pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2	copy number gain	not provided [RCV000847649]	ChrX:2703632..14129100 [GRCh37] ChrX:Xp22.33-22.2	pathogenic
GRCh37/hg19 Xp22.33(chrX:2468907-3011375)x3	copy number gain	not provided [RCV000848891]	ChrX:2468907..3011375 [GRCh37] ChrX:Xp22.33	uncertain significance
GRCh37/hg19 Xp22.33-22.31(chrX:169790-8465951)x1	copy number loss	not provided [RCV000848066]	ChrX:169790..8465951 [GRCh37] ChrX:Xp22.33-22.31	pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:168546-6449753)x1	copy number loss	not provided [RCV001007201]	ChrX:168546..6449753 [GRCh37] ChrX:Xp22.33-22.31	pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:168546-8503210)x1	copy number loss	not provided [RCV001007202]	ChrX:168546..8503210 [GRCh37] ChrX:Xp22.33-22.31	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
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
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 Xp22.33-q11.1(chrX:168546-61877279)x1	copy number loss	not provided [RCV000846273]	ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1	pathogenic
NM_001011719.2(ARSH):c.430C>A (p.Pro144Thr)	single nucleotide variant	not provided [RCV000886153]	ChrX:3015059 [GRCh38] ChrX:2933100 [GRCh37] ChrX:Xp22.33	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 Xp22.33-22.31(chrX:1626596-7832236)x3	copy number gain	not provided [RCV002472706]	ChrX:1626596..7832236 [GRCh37] ChrX:Xp22.33-22.31	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:60814-6043278)x0	copy number loss	See cases [RCV001007410]	ChrX:60814..6043278 [GRCh37] ChrX:Xp22.33-22.31	pathogenic
GRCh37/hg19 Xp22.33(chrX:827260-3057917)x3	copy number gain	not provided [RCV001007232]	ChrX:827260..3057917 [GRCh37] ChrX:Xp22.33	uncertain significance
GRCh37/hg19 Xp22.33-22.31(chrX:1-7810731)x2	copy number gain	not provided [RCV001007197]	ChrX:1..7810731 [GRCh37] ChrX:Xp22.33-22.31	pathogenic
GRCh37/hg19 Xp22.33(chrX:168546-3265521)x0	copy number loss	not provided [RCV001007199]	ChrX:168546..3265521 [GRCh37] ChrX:Xp22.33	pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-10368820)x1	copy number loss	See cases [RCV002285049]	ChrX:168546..10368820 [GRCh37] ChrX:Xp22.33-22.2	pathogenic
GRCh37/hg19 Xp22.33(chrX:2422650-2965166)x3	copy number gain	not provided [RCV001258824]	ChrX:2422650..2965166 [GRCh37] ChrX:Xp22.33	uncertain significance
GRCh37/hg19 Xp22.33(chrX:2428084-3118627)x2	copy number gain	not provided [RCV001258827]	ChrX:2428084..3118627 [GRCh37] ChrX:Xp22.33	uncertain significance
GRCh37/hg19 Xp22.33(chrX:2571744-3605934)x2	copy number gain	not provided [RCV001258829]	ChrX:2571744..3605934 [GRCh37] ChrX:Xp22.33	uncertain significance
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
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	copy number loss	not provided [RCV001537933]	ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-22.32(chrX:60000-4857212)x1	copy number loss	not provided [RCV001270673]	ChrX:60000..4857212 [GRCh37] ChrX:Xp22.33-22.32	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	copy number loss	Turner syndrome [RCV002280671]	ChrX:168546..57841304 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_001011719.2(ARSH):c.1177G>A (p.Gly393Arg)	single nucleotide variant	not provided [RCV001795706]	ChrX:3027453 [GRCh38] ChrX:2945494 [GRCh37] ChrX:Xp22.33	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV001834509]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33(chrX:2428085-3127231)x3	copy number gain	not provided [RCV001833011]	ChrX:2428085..3127231 [GRCh37] ChrX:Xp22.33	uncertain significance
GRCh37/hg19 Xp22.33(chrX:2763106-3583305)	copy number gain	not specified [RCV002052769]	ChrX:2763106..3583305 [GRCh37] ChrX:Xp22.33	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	not provided [RCV001829212]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:168546-6449837)x0	copy number loss	not provided [RCV001827599]	ChrX:168546..6449837 [GRCh37] ChrX:Xp22.33-22.31	pathogenic
GRCh37/hg19 Xp22.33(chrX:2571752-3195839)x2	copy number gain	not provided [RCV001836482]	ChrX:2571752..3195839 [GRCh37] ChrX:Xp22.33	uncertain significance
GRCh37/hg19 Xp22.33-22.32(chrX:1-4567282)x1	copy number loss	not provided [RCV001836549]	ChrX:1..4567282 [GRCh37] ChrX:Xp22.33-22.32	pathogenic
Single allele	complex	Turner syndrome [RCV002280670]	ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-11080743)x1	copy number loss	See cases [RCV002286358]	ChrX:168546..11080743 [GRCh37] ChrX:Xp22.33-22.2	pathogenic
GRCh37/hg19 Xp22.33(chrX:2696691-3666623)x1	copy number loss	Klinefelter syndrome [RCV002287642]	ChrX:2696691..3666623 [GRCh37] ChrX:Xp22.33	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number gain	46,XX sex reversal 1 [RCV002280665]\|Hypotonia [RCV002280667]\|Trisomy X syndrome [RCV002280666]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	copy number loss	Turner syndrome [RCV002280669]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33(chrX:2703823-3354304)x1	copy number loss	not provided [RCV002472522]	ChrX:2703823..3354304 [GRCh37] ChrX:Xp22.33	pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:1932788-9676331)x1	copy number loss	not provided [RCV002473947]	ChrX:1932788..9676331 [GRCh37] ChrX:Xp22.33-22.2	likely pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:2703633-14515021)x2	copy number gain	not provided [RCV002474523]	ChrX:2703633..14515021 [GRCh37] ChrX:Xp22.33-22.2	pathogenic
GRCh37/hg19 Xp22.33(chrX:2370150-3027737)x3	copy number gain	not provided [RCV002472442]	ChrX:2370150..3027737 [GRCh37] ChrX:Xp22.33	uncertain significance
NM_001011719.2(ARSH):c.385T>C (p.Cys129Arg)	single nucleotide variant	Inborn genetic diseases [RCV002749423]	ChrX:3015014 [GRCh38] ChrX:2933055 [GRCh37] ChrX:Xp22.33	uncertain significance
NM_001011719.2(ARSH):c.1685C>A (p.Pro562His)	single nucleotide variant	Inborn genetic diseases [RCV002817117]	ChrX:3033381 [GRCh38] ChrX:2951422 [GRCh37] ChrX:Xp22.33	uncertain significance
NM_001011719.2(ARSH):c.1102G>A (p.Val368Ile)	single nucleotide variant	Inborn genetic diseases [RCV002751766]	ChrX:3027378 [GRCh38] ChrX:2945419 [GRCh37] ChrX:Xp22.33	uncertain significance
NM_001011719.2(ARSH):c.40G>A (p.Ala14Thr)	single nucleotide variant	Inborn genetic diseases [RCV002684580]	ChrX:3006652 [GRCh38] ChrX:2924693 [GRCh37] ChrX:Xp22.33	uncertain significance
NM_001011719.2(ARSH):c.1270T>C (p.Phe424Leu)	single nucleotide variant	Inborn genetic diseases [RCV002836709]	ChrX:3029317 [GRCh38] ChrX:2947358 [GRCh37] ChrX:Xp22.33	uncertain significance
NM_001011719.2(ARSH):c.1408T>C (p.Cys470Arg)	single nucleotide variant	Inborn genetic diseases [RCV003012681]	ChrX:3033104 [GRCh38] ChrX:2951145 [GRCh37] ChrX:Xp22.33	uncertain significance
NM_001011719.2(ARSH):c.239A>G (p.Asn80Ser)	single nucleotide variant	Inborn genetic diseases [RCV002778695]	ChrX:3013071 [GRCh38] ChrX:2931112 [GRCh37] ChrX:Xp22.33	uncertain significance
NM_001011719.2(ARSH):c.1348G>A (p.Val450Met)	single nucleotide variant	Inborn genetic diseases [RCV002699321]	ChrX:3033044 [GRCh38] ChrX:2951085 [GRCh37] ChrX:Xp22.33	uncertain significance
NM_001011719.2(ARSH):c.373C>T (p.Arg125Trp)	single nucleotide variant	Inborn genetic diseases [RCV002712473]	ChrX:3015002 [GRCh38] ChrX:2933043 [GRCh37] ChrX:Xp22.33	uncertain significance
NM_001011719.2(ARSH):c.1289A>T (p.Tyr430Phe)	single nucleotide variant	Inborn genetic diseases [RCV002892028]	ChrX:3029336 [GRCh38] ChrX:2947377 [GRCh37] ChrX:Xp22.33	uncertain significance
NM_001011719.2(ARSH):c.196C>T (p.Arg66Trp)	single nucleotide variant	Inborn genetic diseases [RCV002965648]\|not provided [RCV003435941]	ChrX:3010133 [GRCh38] ChrX:2928174 [GRCh37] ChrX:Xp22.33	likely benign\|uncertain significance
NM_001011719.2(ARSH):c.325C>T (p.Arg109Cys)	single nucleotide variant	Inborn genetic diseases [RCV002678411]	ChrX:3013157 [GRCh38] ChrX:2931198 [GRCh37] ChrX:Xp22.33	uncertain significance
NM_001011719.2(ARSH):c.319G>A (p.Gly107Ser)	single nucleotide variant	Inborn genetic diseases [RCV002722690]	ChrX:3013151 [GRCh38] ChrX:2931192 [GRCh37] ChrX:Xp22.33	uncertain significance
NM_001011719.2(ARSH):c.329C>A (p.Thr110Lys)	single nucleotide variant	Inborn genetic diseases [RCV002723828]	ChrX:3013161 [GRCh38] ChrX:2931202 [GRCh37] ChrX:Xp22.33	uncertain significance
GRCh37/hg19 Xp22.33-22.31(chrX:200855-6069814)x1	copy number loss	not provided [RCV003221459]	ChrX:200855..6069814 [GRCh37] ChrX:Xp22.33-22.31	pathogenic
NM_001011719.2(ARSH):c.1349T>C (p.Val450Ala)	single nucleotide variant	Inborn genetic diseases [RCV003265002]	ChrX:3033045 [GRCh38] ChrX:2951086 [GRCh37] ChrX:Xp22.33	uncertain significance
NM_001011719.2(ARSH):c.1552C>T (p.Arg518Cys)	single nucleotide variant	Inborn genetic diseases [RCV003265560]	ChrX:3033248 [GRCh38] ChrX:2951289 [GRCh37] ChrX:Xp22.33	uncertain significance
NM_001011719.2(ARSH):c.1024G>A (p.Gly342Arg)	single nucleotide variant	Inborn genetic diseases [RCV003352192]	ChrX:3024143 [GRCh38] ChrX:2942184 [GRCh37] ChrX:Xp22.33	uncertain significance
NM_001011719.2(ARSH):c.205A>G (p.Ile69Val)	single nucleotide variant	Inborn genetic diseases [RCV003363392]	ChrX:3010142 [GRCh38] ChrX:2928183 [GRCh37] ChrX:Xp22.33	uncertain significance
GRCh37/hg19 Xp22.33-22.32(chrX:1734398-4958582)x3	copy number gain	not provided [RCV003485266]	ChrX:1734398..4958582 [GRCh37] ChrX:Xp22.33-22.32	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
GRCh37/hg19 Xp22.33(chrX:2469001-2932771)x2	copy number gain	not provided [RCV003483940]	ChrX:2469001..2932771 [GRCh37] ChrX:Xp22.33	uncertain significance
GRCh37/hg19 Xp22.33(chrX:2468908-3011375)x3	copy number gain	not provided [RCV003485269]	ChrX:2468908..3011375 [GRCh37] ChrX:Xp22.33	uncertain significance
GRCh37/hg19 Xp22.33(chrX:2616384-2946211)x3	copy number gain	not provided [RCV003485270]	ChrX:2616384..2946211 [GRCh37] ChrX:Xp22.33	uncertain significance
GRCh37/hg19 Xp22.33(chrX:2627829-3074261)x3	copy number gain	not provided [RCV003485271]	ChrX:2627829..3074261 [GRCh37] ChrX:Xp22.33	uncertain significance
GRCh37/hg19 Xp22.33(chrX:1818053-3699423)x3	copy number gain	not provided [RCV003485267]	ChrX:1818053..3699423 [GRCh37] ChrX:Xp22.33	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_001011719.2(ARSH):c.1610C>T (p.Pro537Leu)	single nucleotide variant	not provided [RCV003440871]	ChrX:3033306 [GRCh38] ChrX:2951347 [GRCh37] ChrX:Xp22.33	likely benign
NM_001011719.2(ARSH):c.1164G>A (p.Leu388=)	single nucleotide variant	not provided [RCV003440870]	ChrX:3027440 [GRCh38] ChrX:2945481 [GRCh37] ChrX:Xp22.33	likely benign
GRCh37/hg19 Xp22.33-22.31(chrX:168546-7545375)	copy number loss	not specified [RCV003986217]	ChrX:168546..7545375 [GRCh37] ChrX:Xp22.33-22.31	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
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 Xp22.33-22.32(chrX:1734397-4958582)	copy number gain	not specified [RCV003986272]	ChrX:1734397..4958582 [GRCh37] ChrX:Xp22.33-22.32	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	108
Count of miRNA genes:	106
Interacting mature miRNAs:	108
Transcripts:	ENST00000381130
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

Markers in Region

DXS2503

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	2,950,392 - 2,950,677	UniSTS	GRCh37
Build 36	X	2,960,392 - 2,960,677	RGD	NCBI36
Celera	X	7,230,643 - 7,230,928	RGD
Cytogenetic Map	X	p22.33	UniSTS
HuRef	X	893,027 - 893,312	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

entire extraembryonic component

High

Medium

Low

116

114

Below cutoff

604

187

359

190

165

1204

148

778

693

468

152

124

674

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001011719	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC112653	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY875940	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471074	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000381130 ⟹ ENSP00000370522

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	3,006,546 - 3,034,111 (+)	Ensembl

RefSeq Acc Id:

NM_001011719 ⟹ NP_001011719

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	3,006,546 - 3,034,111 (+)	NCBI
GRCh37	X	2,924,654 - 2,951,426 (+)	RGD
Build 36	X	2,934,654 - 2,961,426 (+)	NCBI Archive
Celera	X	7,204,898 - 7,231,677 (+)	RGD
HuRef	X	867,096 - 894,061 (+)	RGD
CHM1_1	X	2,955,881 - 2,982,583 (+)	NCBI
T2T-CHM13v2.0	X	2,619,025 - 2,646,585 (+)	NCBI

Sequence:

show sequence

TGCTTTCAGGAGCTGCTGGCTGTCAGTGTCCCTGTGCTGTTTGTTTTGCGGTGTTGATGGCACA
TTTATGACAAGAAACGCCAGACCCAACATTGTCCTGCTGATGGCAGATGACCTTGGAGTGGGGG
ATTTGTGCTGCTACGGTAATAACTCAGTGAGCACACCTAATATTGACCGCCTGGCAAGTGAAGG
AGTGAGGCTTACCCAGCATCTCGCAGCTGCTTCCATGTGCACCCCAAGTCGGGCTGCCTTCCTG
ACCGGCCGGTACCCCATCAGATCAGGGATGGTGTCTGCCTACAACCTGAACCGTGCCTTCACGT
GGCTTGGTGGGTCAGGTGGTCTTCCCACCAATGAAACGACTTTTGCCAAGCTGCTGCAGCACCG
TGGCTACCGCACGGGACTCATAGGCAAATGGCACCTGGGTTTGAGCTGCGCCTCTCGGAATGAT
CACTGTTACCACCCGCTCAACCATGGTTTTCACTACTTTTACGGGGTGCCTTTTGGACTTTTAA
GCGACTGCCAGGCATCCAAGACACCAGAACTGCACCGCTGGCTCAGGATCAAACTGTGGATCTC
CACGGTAGCCCTTGCCCTGGTTCCTTTTCTGCTTCTCATTCCCAAGTTCGCCCGCTGGTTCTCA
GTGCCATGGAAGGTCATCTTTGTCTTTGCTCTCCTCGCCTTTCTGTTTTTCACTTCCTGGTACT
CTAGTTATGGATTTACTCGACGTTGGAATTGCATCCTTATGAGGAACCATGAAATTATCCAGCA
GCCAATGAAAGAGGAGAAAGTAGCTTCCCTCATGCTGAAGGAGGCACTTGCTTTCATTGAAAGG
TACAAAAGGGAACCTTTTCTCCTCTTTTTTTCCTTCCTGCACGTACATACTCCACTCATCTCCA
AAAAGAAGTTTGTTGGGCGCAGTAAATATGGCAGGTATGGGGACAATGTAGAAGAAATGGATTG
GATGGTGGGTAAAATCCTGGATGCCCTGGACCAGGAGCGCCTGGCCAACCACACCTTGGTGTAC
TTCACCTCTGACAACGGGGGCCACCTGGAGCCCCTGGACGGGGCTGTTCAGCTGGGTGGCTGGA
ACGGGATCTACAAAGGTGGCAAAGGAATGGGAGGATGGGAAGGAGGTATCCGTGTGCCAGGGAT
ATTCCGGTGGCCGTCAGTCTTGGAGGCTGGGAGAGTGATCAATGAGCCCACCAGCTTAATGGAC
ATCTATCCGACGCTGTCTTATATAGGCGGAGGGATCTTGTCCCAGGACAGAGTGATTGACGGCC
AGAACCTAATGCCCCTGCTGGAAGGAAGGGCGTCCCACTCCGACCACGAGTTCCTCTTCCACTA
CTGTGGGGTCTATCTGCACACGGTCAGGTGGCATCAGAAGGACTGTGCAACTGTGTGGAAAGCT
CATTATGTGACTCCTAAATTCTACCCTGAAGGAACAGGTGCCTGCTATGGGAGTGGAATATGTT
CATGTTCGGGGGATGTAACCTACCACGACCCACCACTCCTCTTTGACATCTCAAGAGACCCTTC
AGAAGCCCTTCCACTGAACCCTGACAATGAGCCATTATTTGACTCCGTGATCAAAAAGATGGAG
GCAGCCATAAGAGAGCATCGTAGGACACTAACACCTGTCCCACAGCAGTTCTCTGTGTTCAACA
CAATTTGGAAACCATGGCTGCAGCCTTGCTGTGGGACCTTCCCCTTCTGTGGGTGTGACAAGGA
AGATGACATCCTTCCCATGGCTCCCTGAGACCATGCGGACCACGTGTTACCCACCACAAACTTA
CTGTTACAATGGTCATAGGAGCAGAGCTCACCTGACTGATTCATTCCATTTGGGATAAAAACTG
ATGGCCCAACCCATTGTTTTATCCTCAGAAATCAGTTCTTTCAAGAGCTCGGTGAAATTAAAGT
GGGCCCATATAACAGTGAACCTGGAGGGGAGCATTTGTTGTATAATTTTTTTCTAGTATATAAT
TGTGCCATTGCCCAAGGAAAAGAGCAAATCAAGGTGACTTCAGCAGATTCTTGTAGAGCTTTTG
TTCCTAGAATTCATGGAAGCATCAGGTCCAATGTCATAAGTTAGAAACTTCTGCTTGCAGATTC
TATACCCAGGCATGCTAGCTTTCTAATAAATCATGATAAGTACTTAATTTTTTCATGAAGCAGA
GGGTCACATAAAACTTGAAGTAGTGCTGTTATAGTCAGTTTGACTTCTTGATTTTCTCTCTTTC
CTTCTTTTCTCTTCCTGTCCGATACGCATCTGGTTATGAGAAAAAATGCTGGGCTGAAGTTCTT
GACTTTGCTTCCTCGTAGCTATATCATCGTGGAAATGTCTCTGTGATTTGGTTTCTTCATGTGT
AAAATAAGGAAAACCAGTGTCTACTTCACAGAGTAGCTATGAGGATTACATGCATTAATTAATG
TGAAATTGCCTTGTGTAGAATAAGCAGTCAATAAATGTTATTATTACAAA

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Protein Sequences


Protein RefSeqs	NP_001011719	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAW66668	(Get FASTA)	NCBI Sequence Viewer
	EAW98721	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000370522
	ENSP00000370522.3
GenBank Protein	Q5FYA8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001011719 ⟸ NM_001011719

- UniProtKB:

Q5FYA8 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MTRNARPNIVLLMADDLGVGDLCCYGNNSVSTPNIDRLASEGVRLTQHLAAASMCTPSRAAFLT
GRYPIRSGMVSAYNLNRAFTWLGGSGGLPTNETTFAKLLQHRGYRTGLIGKWHLGLSCASRNDH
CYHPLNHGFHYFYGVPFGLLSDCQASKTPELHRWLRIKLWISTVALALVPFLLLIPKFARWFSV
PWKVIFVFALLAFLFFTSWYSSYGFTRRWNCILMRNHEIIQQPMKEEKVASLMLKEALAFIERY
KREPFLLFFSFLHVHTPLISKKKFVGRSKYGRYGDNVEEMDWMVGKILDALDQERLANHTLVYF
TSDNGGHLEPLDGAVQLGGWNGIYKGGKGMGGWEGGIRVPGIFRWPSVLEAGRVINEPTSLMDI
YPTLSYIGGGILSQDRVIDGQNLMPLLEGRASHSDHEFLFHYCGVYLHTVRWHQKDCATVWKAH
YVTPKFYPEGTGACYGSGICSCSGDVTYHDPPLLFDISRDPSEALPLNPDNEPLFDSVIKKMEA
AIREHRRTLTPVPQQFSVFNTIWKPWLQPCCGTFPFCGCDKEDDILPMAP

hide sequence

RefSeq Acc Id:

ENSP00000370522 ⟸ ENST00000381130

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q5FYA8-F1-model_v2	AlphaFold	Q5FYA8	1-562	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:32488	AgrOrtholog
COSMIC	ARSH	COSMIC
Ensembl Genes	ENSG00000205667	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000381130	ENTREZGENE
	ENST00000381130.3	UniProtKB/Swiss-Prot
Gene3D-CATH	3.30.1120.10	UniProtKB/Swiss-Prot
	3.40.720.10	UniProtKB/Swiss-Prot
	Helix hairpin bin	UniProtKB/Swiss-Prot
GTEx	ENSG00000205667	GTEx
HGNC ID	HGNC:32488	ENTREZGENE
Human Proteome Map	ARSH	Human Proteome Map
InterPro	Alkaline_phosphatase_core_sf	UniProtKB/Swiss-Prot
	Sulfatase_CS	UniProtKB/Swiss-Prot
	Sulfatase_N	UniProtKB/Swiss-Prot
KEGG Report	hsa:347527	UniProtKB/Swiss-Prot
NCBI Gene	347527	ENTREZGENE
OMIM	300586	OMIM
PANTHER	ARYLSULFATASE FAMILY MEMBER	UniProtKB/Swiss-Prot
	ARYLSULFATASE H	UniProtKB/Swiss-Prot
Pfam	Sulfatase	UniProtKB/Swiss-Prot
	Sulfatase_C	UniProtKB/Swiss-Prot
PharmGKB	PA143485308	PharmGKB
PROSITE	SULFATASE_1	UniProtKB/Swiss-Prot
	SULFATASE_2	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF53649	UniProtKB/Swiss-Prot
UniProt	ARSH_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	ARSH	arylsulfatase family member H	ARSH	arylsulfatase family, member H	Symbol and/or name change	5135510	APPROVED

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Human Phenotype Annotations - ClinVar