STS (steroid sulfatase) - Rat Genome Database

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Gene: STS (steroid sulfatase) Homo sapiens
Analyze
Symbol: STS
Name: steroid sulfatase
RGD ID: 735809
HGNC Page HGNC
Description: Exhibits sulfuric ester hydrolase activity. Predicted to be involved in epidermis development; glycosphingolipid metabolic process; and steroid catabolic process. Predicted to localize to several cellular components, including Golgi apparatus; endoplasmic reticulum; and lysosome. Implicated in X-linked ichthyosis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARSC; ARSC1; arylsulfatase C; ASC; ES; estrone sulfatase; SSDD; steroid sulfatase (microsomal), isozyme S; steryl-sulfatase; steryl-sulfate sulfohydrolase; XLI
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: STSP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX7,147,237 - 7,804,358 (+)EnsemblGRCh38hg38GRCh38
GRCh38X7,147,290 - 7,354,641 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X7,065,331 - 7,272,682 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X7,147,472 - 7,282,682 (+)NCBINCBI36hg18NCBI36
Build 34X6,997,232 - 7,132,416NCBI
CeleraX11,363,616 - 11,498,571 (+)NCBI
Cytogenetic MapXp22.31NCBI
HuRefX4,994,733 - 5,130,162 (+)NCBIHuRef
CHM1_1X7,096,353 - 7,303,668 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3-bisphospho-D-glyceric acid  (EXP)
2,3-bisphosphoglyceric acid  (EXP)
2,6-dinitrotoluene  (ISO)
2-hydroxy-5-nitrophenyl hydrogen sulfate  (EXP)
2-hydroxypropanoic acid  (EXP)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid  (EXP)
4-nitrophenyl hydrogen sulfate  (EXP)
6alpha-methylprednisolone  (EXP)
9-cis-retinoic acid  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (ISO)
aflatoxin M1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
androgen antagonist  (ISO)
androst-5-ene-3beta,17beta-diol  (EXP)
arotinoid acid  (EXP)
atrazine  (ISO)
azathioprine  (EXP)
benzimidazoles  (EXP)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (ISO)
bortezomib  (EXP)
butan-1-ol  (EXP)
Butylparaben  (ISO)
carmustine  (EXP)
celecoxib  (EXP)
chlorpromazine  (EXP)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
curcumin  (EXP)
cyclosporin A  (EXP)
danazol  (EXP)
DDE  (ISO)
Deguelin  (EXP)
dehydroepiandrosterone  (EXP)
dehydroepiandrosterone sulfate  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
diethylstilbestrol  (EXP)
disodium tetraborate  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
enzacamene  (ISO)
epoxiconazole  (ISO)
equilenin  (EXP)
estrone  (EXP)
estrone 3-sulfate  (EXP)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
genistein  (EXP)
Goe 6976  (EXP)
graphite  (ISO)
leflunomide  (ISO)
linuron  (ISO)
lipopolysaccharide  (EXP)
LY294002  (EXP)
mercury dibromide  (EXP)
methotrexate  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
N-acetylsphingosine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-tosyl-L-phenylalanyl chloromethyl ketone  (EXP)
naphthalenes  (ISO)
nickel sulfate  (EXP)
nimesulide  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
parthenolide  (EXP)
phenylmercury acetate  (EXP)
phorbol 13-acetate 12-myristate  (EXP)
phosphatidic acid  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
prednisolone  (EXP)
Pregn-5-ene-3beta,20alpha-diol  (EXP)
prochloraz  (ISO)
procymidone  (ISO)
propranolol  (EXP)
rac-lactic acid  (EXP)
rotenone  (EXP,ISO)
rottlerin  (EXP)
SB 203580  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sirolimus  (EXP)
sodium aurothiomalate  (EXP)
sodium dichromate  (ISO)
stilbenoid  (EXP)
sulfamic acid  (EXP)
tazarotene  (EXP)
tazarotenic acid  (EXP)
thioacetamide  (ISO)
torcetrapib  (EXP)
trichostatin A  (EXP)
Triptolide  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
undecane  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
wortmannin  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1539590   PMID:2065092   PMID:2668275   PMID:2765556   PMID:2813406   PMID:3032454   PMID:3034252   PMID:3165728   PMID:3203382   PMID:3464600   PMID:3471087   PMID:6948769  
PMID:6957717   PMID:8889548   PMID:9252398   PMID:10679952   PMID:10692123   PMID:10844566   PMID:11844872   PMID:11886493   PMID:11996939   PMID:12231117   PMID:12477932   PMID:12657638  
PMID:14507642   PMID:14556660   PMID:14969586   PMID:15009711   PMID:15056284   PMID:15152080   PMID:15302278   PMID:15355916   PMID:15489334   PMID:15962010   PMID:16084891   PMID:16344560  
PMID:16399357   PMID:16467490   PMID:16556483   PMID:16837617   PMID:17415442   PMID:17426092   PMID:17454161   PMID:17481887   PMID:17596930   PMID:17601726   PMID:18180093   PMID:18249534  
PMID:18343103   PMID:18413370   PMID:18467089   PMID:18723074   PMID:18817841   PMID:18937300   PMID:19124506   PMID:19200188   PMID:19347708   PMID:19429462   PMID:19453261   PMID:19551860  
PMID:19598235   PMID:20149601   PMID:20151319   PMID:20214802   PMID:20236202   PMID:20814163   PMID:20862695   PMID:21073915   PMID:21255266   PMID:21530180   PMID:21873635   PMID:21945601  
PMID:23122578   PMID:23807007   PMID:23861462   PMID:23916543   PMID:24055520   PMID:24081738   PMID:24480088   PMID:25042472   PMID:25499601   PMID:25726327   PMID:26194504   PMID:26213785  
PMID:26220752   PMID:26387488   PMID:26421812   PMID:26458420   PMID:26631368   PMID:26723541   PMID:26996578   PMID:27531568   PMID:27871476   PMID:28293481   PMID:28367959   PMID:28391262  
PMID:28514442   PMID:29563635   PMID:29672931   PMID:30021537   PMID:30060148   PMID:30118815   PMID:30217785   PMID:31195119   PMID:31217279   PMID:32005174   PMID:33336383  


Genomics

Comparative Map Data
STS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX7,147,237 - 7,804,358 (+)EnsemblGRCh38hg38GRCh38
GRCh38X7,147,290 - 7,354,641 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X7,065,331 - 7,272,682 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X7,147,472 - 7,282,682 (+)NCBINCBI36hg18NCBI36
Build 34X6,997,232 - 7,132,416NCBI
CeleraX11,363,616 - 11,498,571 (+)NCBI
Cytogenetic MapXp22.31NCBI
HuRefX4,994,733 - 5,130,162 (+)NCBIHuRef
CHM1_1X7,096,353 - 7,303,668 (+)NCBICHM1_1
Sts
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X168,856,332 - 169,015,037 (-)NCBIGRCm39mm39
Cytogenetic MapXYF5NCBI
cM MapXY75.0NCBI
Sts
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X42,225,131 - 42,233,403 (+)NCBI
Rnor_6.0 EnsemblX45,420,596 - 45,428,750 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X45,420,418 - 45,428,748 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X45,646,021 - 45,654,127 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X63,915,803 - 63,923,834 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X63,969,271 - 63,977,302 (+)NCBI
CeleraX42,864,036 - 42,872,067 (+)NCBICelera
Cytogenetic MapXq21NCBI
Sts
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554995,180,214 - 5,345,221 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554995,180,451 - 5,347,862 (+)NCBIChiLan1.0ChiLan1.0
STS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X7,015,812 - 7,211,919 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX7,047,017 - 7,207,540 (+)Ensemblpanpan1.1panPan2
STS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X4,396,867 - 4,470,093 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX4,325,665 - 4,467,284 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX4,298,275 - 4,448,414 (+)NCBI
ROS_Cfam_1.0X4,277,781 - 4,430,757 (+)NCBI
UMICH_Zoey_3.1X4,275,666 - 4,403,942 (+)NCBI
UNSW_CanFamBas_1.0X4,310,666 - 4,460,990 (+)NCBI
UU_Cfam_GSD_1.0X4,306,633 - 4,435,218 (+)NCBI
Sts
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049532,971,765 - 3,048,416 (+)NCBI
SpeTri2.0NW_0049366441,328,327 - 1,395,856 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X3,926,027 - 4,076,900 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1Y2,747,102 - 2,828,322 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X4,052,271 - 4,255,004 (+)NCBISscrofa10.2Sscrofa10.2susScr3
STS
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X5,601,746 - 5,813,916 (+)NCBI
ChlSab1.1 EnsemblX5,709,410 - 5,812,224 (+)Ensembl
Sts
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248344,805,556 - 4,975,264 (+)NCBI

Position Markers
RH36507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,264,229 - 7,264,422UniSTSGRCh37
Build 36X7,274,229 - 7,274,422RGDNCBI36
CeleraX11,490,125 - 11,490,318RGD
Cytogenetic MapXp22.32UniSTS
HuRefX5,121,708 - 5,121,901UniSTS
GeneMap99-GB4 RH MapX80.62UniSTS
WI-14685  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,270,972 - 7,271,099UniSTSGRCh37
Build 36X7,280,972 - 7,281,099RGDNCBI36
CeleraX11,496,861 - 11,496,988RGD
Cytogenetic MapXp22.32UniSTS
HuRefX5,128,452 - 5,128,579UniSTS
GeneMap99-GB4 RH MapX80.62UniSTS
Whitehead-RH MapX12.7UniSTS
NCBI RH MapX10.0UniSTS
GDB:293965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,268,123 - 7,268,475UniSTSGRCh37
Build 36X7,278,123 - 7,278,475RGDNCBI36
CeleraX11,494,012 - 11,494,364RGD
Cytogenetic MapXp22.32UniSTS
HuRefX5,125,603 - 5,125,955UniSTS
DXS7434E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,270,953 - 7,271,033UniSTSGRCh37
Build 36X7,280,953 - 7,281,033RGDNCBI36
CeleraX11,496,842 - 11,496,922RGD
Cytogenetic MapXp22.32UniSTS
HuRefX5,128,433 - 5,128,513UniSTS
RH120079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,201,436 - 7,201,734UniSTSGRCh37
Build 36X7,211,436 - 7,211,734RGDNCBI36
CeleraX11,427,380 - 11,427,678RGD
Cytogenetic MapXp22.32UniSTS
HuRefX5,058,354 - 5,058,652UniSTS
G42690  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,268,538 - 7,268,663UniSTSGRCh37
Build 36X7,278,538 - 7,278,663RGDNCBI36
CeleraX11,494,427 - 11,494,552RGD
Cytogenetic MapXp22.32UniSTS
HuRefX5,126,018 - 5,126,143UniSTS
DXS6767  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,177,664 - 7,177,771UniSTSGRCh37
Build 36X7,187,664 - 7,187,771RGDNCBI36
CeleraX11,403,765 - 11,403,872RGD
Cytogenetic MapXp22.32UniSTS
HuRefX5,034,642 - 5,034,749UniSTS
DXS7964  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,198,099 - 7,198,199UniSTSGRCh37
Build 36X7,208,099 - 7,208,199RGDNCBI36
CeleraX11,424,129 - 11,424,229RGD
Cytogenetic MapXp22.32UniSTS
HuRefX5,055,077 - 5,055,177UniSTS
DXS7965  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,197,797 - 7,197,919UniSTSGRCh37
Build 36X7,207,797 - 7,207,919RGDNCBI36
CeleraX11,423,827 - 11,423,949RGD
Cytogenetic MapXp22.32UniSTS
HuRefX5,054,775 - 5,054,897UniSTS
SHGC-81735  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,174,284 - 7,174,556UniSTSGRCh37
Build 36X7,184,284 - 7,184,556RGDNCBI36
CeleraX11,400,397 - 11,400,669RGD
Cytogenetic MapXp22.32UniSTS
HuRefX5,031,279 - 5,031,551UniSTS
SHGC-154461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,218,872 - 7,219,168UniSTSGRCh37
Build 36X7,228,872 - 7,229,168RGDNCBI36
CeleraX11,444,764 - 11,445,060RGD
Cytogenetic MapXp22.32UniSTS
HuRefX5,076,059 - 5,076,355UniSTS
STS-R67209  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,269,761 - 7,269,930UniSTSGRCh37
Build 36X7,279,761 - 7,279,930RGDNCBI36
CeleraX11,495,650 - 11,495,819RGD
Cytogenetic MapXp22.32UniSTS
HuRefX5,127,241 - 5,127,410UniSTS
GeneMap99-GB4 RH MapX80.62UniSTS
NCBI RH MapX10.0UniSTS
STS-M16505  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,268,399 - 7,268,638UniSTSGRCh37
Build 36X7,278,399 - 7,278,638RGDNCBI36
CeleraX11,494,288 - 11,494,527RGD
Cytogenetic MapXp22.32UniSTS
HuRefX5,125,879 - 5,126,118UniSTS
GeneMap99-GB4 RH MapX80.62UniSTS
NCBI RH MapX10.0UniSTS
DXS7500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,268,317 - 7,268,422UniSTSGRCh37
Build 36X7,278,317 - 7,278,422RGDNCBI36
CeleraX11,494,206 - 11,494,311RGD
Cytogenetic MapXp22.32UniSTS
HuRefX5,125,797 - 5,125,902UniSTS
GeneMap99-GB4 RH MapX80.62UniSTS
Whitehead-RH MapX12.7UniSTS
NCBI RH MapX10.0UniSTS
GDB:187673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y17,666,038 - 17,666,394UniSTSGRCh37
GRCh37X7,180,306 - 7,180,662UniSTSGRCh37
Build 36X7,190,306 - 7,190,662RGDNCBI36
CeleraX4,651,965 - 4,652,321UniSTS
CeleraX11,406,407 - 11,406,763RGD
Cytogenetic MapXp22.32UniSTS
HuRefY12,266,442 - 12,266,798UniSTS
HuRefX5,037,284 - 5,037,640UniSTS
STS-N23221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,269,736 - 7,269,925UniSTSGRCh37
Build 36X7,279,736 - 7,279,925RGDNCBI36
CeleraX11,495,625 - 11,495,814RGD
Cytogenetic MapXp22.32UniSTS
HuRefX5,127,216 - 5,127,405UniSTS
GeneMap99-GB4 RH MapX80.62UniSTS
NCBI RH MapX10.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3061
Count of miRNA genes:1241
Interacting mature miRNAs:1541
Transcripts:ENST00000217961
Prediction methods:Miranda, Pita
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.


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 173 1210 202 43 539 45 1705 89 759 130 314 661 2 896 1045 3
Low 2243 1653 1516 577 1290 417 2645 2090 2942 287 1134 939 168 308 1743 2
Below cutoff 3 121 4 1 113 1 4 14 8 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001320754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC112651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL549736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM072428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM072429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM282551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM282552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM282553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM282554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU135967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU137602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU137974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU138059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF194867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ184961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX119415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX390437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB250477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA327298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA406759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA726770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA855321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ851171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ851172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ851173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FM209047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H00840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M16505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M17591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S82924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000217961   ⟹   ENSP00000217961
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX7,219,456 - 7,354,810 (+)Ensembl
RefSeq Acc Id: ENST00000658154
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX7,147,977 - 7,517,075 (+)Ensembl
RefSeq Acc Id: ENST00000660000   ⟹   ENSP00000499642
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX7,147,977 - 7,453,758 (+)Ensembl
RefSeq Acc Id: ENST00000664306   ⟹   ENSP00000499549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX7,147,237 - 7,804,358 (+)Ensembl
RefSeq Acc Id: ENST00000666110   ⟹   ENSP00000499472
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX7,147,291 - 7,354,626 (+)Ensembl
RefSeq Acc Id: ENST00000674429   ⟹   ENSP00000501534
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX7,147,712 - 7,354,641 (+)Ensembl
RefSeq Acc Id: ENST00000674499   ⟹   ENSP00000501360
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX7,219,431 - 7,354,641 (+)Ensembl
RefSeq Acc Id: NM_000351   ⟹   NP_000342
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,219,456 - 7,354,641 (+)NCBI
GRCh37X7,065,298 - 7,272,682 (+)NCBI
Build 36X7,147,472 - 7,282,682 (+)NCBI Archive
HuRefX4,994,733 - 5,130,162 (+)ENTREZGENE
CHM1_1X7,168,567 - 7,303,668 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001320750   ⟹   NP_001307679
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,147,290 - 7,354,641 (+)NCBI
CHM1_1X7,096,353 - 7,303,668 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001320751   ⟹   NP_001307680
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,147,712 - 7,354,641 (+)NCBI
CHM1_1X7,096,994 - 7,303,668 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001320752   ⟹   NP_001307681
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,147,712 - 7,354,641 (+)NCBI
CHM1_1X7,096,994 - 7,303,668 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001320753   ⟹   NP_001307682
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,252,244 - 7,354,641 (+)NCBI
CHM1_1X7,201,360 - 7,303,668 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001320754   ⟹   NP_001307683
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,252,473 - 7,354,641 (+)NCBI
CHM1_1X7,201,589 - 7,303,668 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000342   ⟸   NM_000351
- Peptide Label: isoform 1 precursor
- Sequence:
RefSeq Acc Id: NP_001307679   ⟸   NM_001320750
- Peptide Label: isoform 2 precursor
- UniProtKB: P08842 (UniProtKB/Swiss-Prot),   Q0W975 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307680   ⟸   NM_001320751
- Peptide Label: isoform 2 precursor
- UniProtKB: P08842 (UniProtKB/Swiss-Prot),   Q0W975 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307681   ⟸   NM_001320752
- Peptide Label: isoform 1 precursor
- Sequence:
RefSeq Acc Id: NP_001307682   ⟸   NM_001320753
- Peptide Label: isoform 1 precursor
- UniProtKB: P08842 (UniProtKB/Swiss-Prot),   A6PYA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001307683   ⟸   NM_001320754
- Peptide Label: isoform 1 precursor
- UniProtKB: P08842 (UniProtKB/Swiss-Prot),   A6PYA4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000501534   ⟸   ENST00000674429
RefSeq Acc Id: ENSP00000501360   ⟸   ENST00000674499
RefSeq Acc Id: ENSP00000499642   ⟸   ENST00000660000
RefSeq Acc Id: ENSP00000217961   ⟸   ENST00000217961
RefSeq Acc Id: ENSP00000499549   ⟸   ENST00000664306
RefSeq Acc Id: ENSP00000499472   ⟸   ENST00000666110
Protein Domains
Sulfatase

Promoters
RGD ID:13604668
Promoter ID:EPDNEW_H28518
Type:initiation region
Name:STS_1
Description:steroid sulfatase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28519  EPDNEW_H28521  EPDNEW_H28522  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,147,291 - 7,147,351EPDNEW
RGD ID:6809291
Promoter ID:HG_KWN:65922
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000055686
Position:
Human AssemblyChrPosition (strand)Source
Build 36X7,147,361 - 7,147,861 (+)MPROMDB
RGD ID:13604670
Promoter ID:EPDNEW_H28519
Type:initiation region
Name:STS_3
Description:steroid sulfatase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28518  EPDNEW_H28521  EPDNEW_H28522  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,148,024 - 7,148,084EPDNEW
RGD ID:6809296
Promoter ID:HG_KWN:65923
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:UC010NDM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X7,180,136 - 7,180,636 (+)MPROMDB
RGD ID:13604674
Promoter ID:EPDNEW_H28521
Type:initiation region
Name:STS_4
Description:steroid sulfatase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28518  EPDNEW_H28519  EPDNEW_H28522  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,219,196 - 7,219,256EPDNEW
RGD ID:13604676
Promoter ID:EPDNEW_H28522
Type:initiation region
Name:STS_2
Description:steroid sulfatase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28518  EPDNEW_H28519  EPDNEW_H28521  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,219,456 - 7,219,516EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000351.6(STS):c.184G>T (p.Gly62Ter) single nucleotide variant not provided [RCV000521148] ChrX:7257273 [GRCh38]
ChrX:7175314 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_000351.6(STS):c.1256+1G>T single nucleotide variant X-linked ichthyosis with steryl-sulfatase deficiency [RCV000011303] ChrX:7325499 [GRCh38]
ChrX:7243540 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000351.6(STS):c.1124G>C (p.Gly375Ala) single nucleotide variant not provided [RCV000519549] ChrX:7325366 [GRCh38]
ChrX:7243407 [GRCh37]
ChrX:Xp22.31
likely pathogenic
NM_000351.6(STS):c.1114T>A (p.Trp372Arg) single nucleotide variant X-linked ichthyosis with steryl-sulfatase deficiency [RCV000011298] ChrX:7325356 [GRCh38]
ChrX:7243397 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000351.6(STS):c.1337G>A (p.Cys446Tyr) single nucleotide variant X-linked ichthyosis with steryl-sulfatase deficiency [RCV000011299] ChrX:7334066 [GRCh38]
ChrX:7252107 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000351.6(STS):c.1022C>T (p.Ser341Leu) single nucleotide variant X-linked ichthyosis with steryl-sulfatase deficiency [RCV000011300]|not provided [RCV001093287] ChrX:7305109 [GRCh38]
ChrX:7223150 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000351.6(STS):c.1115G>C (p.Trp372Ser) single nucleotide variant X-linked ichthyosis with steryl-sulfatase deficiency [RCV000011301] ChrX:7325357 [GRCh38]
ChrX:7243398 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000351.6(STS):c.1331A>G (p.His444Arg) single nucleotide variant X-linked ichthyosis with steryl-sulfatase deficiency [RCV000011302] ChrX:7334060 [GRCh38]
ChrX:7252101 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000351.4(STS):c.12-8467T>C single nucleotide variant Lung cancer [RCV000102746] ChrX:7244729 [GRCh38]
ChrX:7162770 [GRCh37]
ChrX:Xp22.31
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 Xp22.31(chrX:6570680-8082609)x2 copy number gain See cases [RCV000050803] ChrX:6570680..8082609 [GRCh38]
ChrX:6488721..8050650 [GRCh37]
ChrX:6498721..8010650 [NCBI36]
ChrX:Xp22.31
benign
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 Xp22.31(chrX:6570680-7776150)x0 copy number loss See cases [RCV000050911] ChrX:6570680..7776150 [GRCh38]
ChrX:6488721..7744191 [GRCh37]
ChrX:6498721..7704191 [NCBI36]
ChrX:Xp22.31
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:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:6837101-13719231)x3 copy number gain See cases [RCV000052360] ChrX:6837101..13719231 [GRCh38]
ChrX:6755142..13737350 [GRCh37]
ChrX:6765142..13647271 [NCBI36]
ChrX:Xp22.31-22.2
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-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-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 Xp22.31(chrX:6570480-8129611)x0 copy number loss See cases [RCV000053049] ChrX:6570480..8129611 [GRCh38]
ChrX:6488521..8097652 [GRCh37]
ChrX:6498521..8057652 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x0 copy number loss See cases [RCV000053051] ChrX:6570680..8129470 [GRCh38]
ChrX:6488721..8097511 [GRCh37]
ChrX:6498721..8057511 [NCBI36]
ChrX:Xp22.31
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:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:3057092-13615172)x1 copy number loss See cases [RCV000053026] ChrX:3057092..13615172 [GRCh38]
ChrX:2975133..13633291 [GRCh37]
ChrX:2985133..13543212 [NCBI36]
ChrX:Xp22.33-22.2
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 Xp22.33-22.11(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 Xp22.33-11.1(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 Xp22.32-22.2(chrX:4557134-10838424)x1 copy number loss See cases [RCV000053028] ChrX:4557134..10838424 [GRCh38]
ChrX:4475175..10856543 [GRCh37]
ChrX:4485175..10766464 [NCBI36]
ChrX:Xp22.32-22.2
pathogenic
GRCh38/hg38 Xp22.31(chrX:6534166-8181150)x0 copy number loss See cases [RCV000053031] ChrX:6534166..8181150 [GRCh38]
ChrX:6452207..8149191 [GRCh37]
ChrX:6462207..8109191 [NCBI36]
ChrX:Xp22.31
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-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: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 Xp22.33-22.31(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 Xp22.33-22.12(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 Xp22.33-22.2(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 Xp22.33-11.21(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 Xp22.31(chrX:6534166-8158120)x0 copy number loss See cases [RCV000053033] ChrX:6534166..8158120 [GRCh38]
ChrX:6452207..8126161 [GRCh37]
ChrX:6462207..8086161 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:6536991-8163769)x1 copy number loss See cases [RCV000053034] ChrX:6536991..8163769 [GRCh38]
ChrX:6455032..8131810 [GRCh37]
ChrX:6465032..8091810 [NCBI36]
ChrX:Xp22.31
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 Xp22.31(chrX:6534166-8168680)x2 copy number gain See cases [RCV000053688] ChrX:6534166..8168680 [GRCh38]
ChrX:6452207..8136721 [GRCh37]
ChrX:6462207..8096721 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6534166-8148026)x3 copy number gain See cases [RCV000053690] ChrX:6534166..8148026 [GRCh38]
ChrX:6452207..8116067 [GRCh37]
ChrX:6462207..8076067 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6539362-8064079)x2 copy number gain See cases [RCV000053692] ChrX:6539362..8064079 [GRCh38]
ChrX:6457403..8032120 [GRCh37]
ChrX:6467403..7992120 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6548965-8147112)x3 copy number gain See cases [RCV000053694] ChrX:6548965..8147112 [GRCh38]
ChrX:6467006..8115153 [GRCh37]
ChrX:6477006..8075153 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6548965-8147112)x1 copy number loss See cases [RCV000053695] ChrX:6548965..8147112 [GRCh38]
ChrX:6467006..8115153 [GRCh37]
ChrX:6477006..8075153 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:6633114-7637310)x3 copy number gain See cases [RCV000053696] ChrX:6633114..7637310 [GRCh38]
ChrX:6551155..7555351 [GRCh37]
ChrX:6561155..7565351 [NCBI36]
ChrX:Xp22.31
benign
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
NC_000023.11:g.7175125G>A single nucleotide variant Lung cancer [RCV000111437] ChrX:7175125 [GRCh38]
ChrX:7093166 [GRCh37]
ChrX:Xp22.31
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
GRCh37/hg19 Xp22.31(chrX:6179830-8605251)x2 copy number gain See cases [RCV000515607] ChrX:6179830..8605251 [GRCh37]
ChrX:Xp22.31
likely pathogenic
GRCh38/hg38 Xp22.31(chrX:6570680-8082609)x3 copy number gain See cases [RCV000050802] ChrX:6570680..8082609 [GRCh38]
ChrX:6488721..8050650 [GRCh37]
ChrX:6498721..8010650 [NCBI36]
ChrX:Xp22.31
benign
NM_000351.6(STS):c.1746C>G (p.Ser582Arg) single nucleotide variant not provided [RCV000514051] ChrX:7350255 [GRCh38]
ChrX:7268296 [GRCh37]
ChrX:Xp22.31
benign|likely benign
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 Xp22.31(chrX:6456777-8119329)x1 copy number loss See cases [RCV000184077] ChrX:6456777..8119329 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6456837-8119329)x0 copy number loss See cases [RCV000184076] ChrX:6456837..8119329 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:7050418-7247772)x3 copy number gain See cases [RCV000184094] ChrX:7050418..7247772 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.31(chrX:7227318-7259460)x0 copy number loss See cases [RCV000136599] ChrX:7227318..7259460 [GRCh38]
ChrX:7145359..7177501 [GRCh37]
ChrX:7155359..7187501 [NCBI36]
ChrX:Xp22.31
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)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: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 Xp22.31(chrX:6570680-8129470)x1 copy number loss See cases [RCV000053052] ChrX:6570680..8129470 [GRCh38]
ChrX:6488721..8097511 [GRCh37]
ChrX:6498721..8057511 [NCBI36]
ChrX:Xp22.31
conflicting interpretations of pathogenicity|conflicting data from submitters
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 Xp22.31(chrX:6539362-8064079)x3 copy number gain See cases [RCV000133598] ChrX:6539362..8064079 [GRCh38]
ChrX:6457403..8032120 [GRCh37]
ChrX:6467403..7992120 [NCBI36]
ChrX:Xp22.31
benign
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 Xp22.33-11.23(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 Xp22.31(chrX:6535031-7841300)x3 copy number gain See cases [RCV000133755] ChrX:6535031..7841300 [GRCh38]
ChrX:6453072..7809341 [GRCh37]
ChrX:6463072..7769341 [NCBI36]
ChrX:Xp22.31
benign
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 Xp22.33-22.31(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-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(chrX:6531603-8147053)x0 copy number loss See cases [RCV000135351] ChrX:6531603..8147053 [GRCh38]
ChrX:6449644..8115094 [GRCh37]
ChrX:6459644..8075094 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:6710223-8129470)x3 copy number gain See cases [RCV000135396] ChrX:6710223..8129470 [GRCh38]
ChrX:6628264..8097511 [GRCh37]
ChrX:6638264..8057511 [NCBI36]
ChrX:Xp22.31
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 Xp22.33-21.1(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 Xp22.33-22.2(chrX:4082541-12772302)x2 copy number gain See cases [RCV000135636] ChrX:4082541..12772302 [GRCh38]
ChrX:4000582..12790421 [GRCh37]
ChrX:4010582..12700342 [NCBI36]
ChrX:Xp22.33-22.2
likely pathogenic
GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x3 copy number gain See cases [RCV000135734] ChrX:6570680..8129470 [GRCh38]
ChrX:6488721..8097511 [GRCh37]
ChrX:6498721..8057511 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x2 copy number gain See cases [RCV000135735] ChrX:6570680..8129470 [GRCh38]
ChrX:6488721..8097511 [GRCh37]
ChrX:6498721..8057511 [NCBI36]
ChrX:Xp22.31
uncertain significance
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 Xp22.31(chrX:7072209-9374317)x0 copy number loss See cases [RCV000135789] ChrX:7072209..9374317 [GRCh38]
ChrX:6990250..9342357 [GRCh37]
ChrX:7000250..9302357 [NCBI36]
ChrX:Xp22.31
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 Xp22.31(chrX:6787227-7917114)x1 copy number loss See cases [RCV000135537] ChrX:6787227..7917114 [GRCh38]
ChrX:6705268..7885155 [GRCh37]
ChrX:6715268..7845155 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:7021831-8129470)x0 copy number loss See cases [RCV000135540] ChrX:7021831..8129470 [GRCh38]
ChrX:6939872..8097511 [GRCh37]
ChrX:6949872..8057511 [NCBI36]
ChrX:Xp22.31
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-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 Xp22.33-22.2(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 Xp22.31(chrX:6570421-8129470)x1 copy number loss See cases [RCV000136087] ChrX:6570421..8129470 [GRCh38]
ChrX:6488462..8097511 [GRCh37]
ChrX:6498462..8057511 [NCBI36]
ChrX:Xp22.31
benign|likely benign|conflicting data from submitters
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-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 Xp22.31(chrX:6534640-8129470)x2 copy number gain See cases [RCV000136059] ChrX:6534640..8129470 [GRCh38]
ChrX:6452681..8097511 [GRCh37]
ChrX:6462681..8057511 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6534640-8129470)x3 copy number gain See cases [RCV000136061] ChrX:6534640..8129470 [GRCh38]
ChrX:6452681..8097511 [GRCh37]
ChrX:6462681..8057511 [NCBI36]
ChrX:Xp22.31
benign
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-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-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 Xp22.31(chrX:6633114-8064079)x0 copy number loss See cases [RCV000136755] ChrX:6633114..8064079 [GRCh38]
ChrX:6551155..8032120 [GRCh37]
ChrX:6561155..7992120 [NCBI36]
ChrX:Xp22.31
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 Xp22.31(chrX:6536171-8147112)x1 copy number loss See cases [RCV000137692] ChrX:6536171..8147112 [GRCh38]
ChrX:6454212..8115153 [GRCh37]
ChrX:6464212..8075153 [NCBI36]
ChrX:Xp22.31
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: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 Xp22.31(chrX:6865059-7776150)x0 copy number loss See cases [RCV000138171] ChrX:6865059..7776150 [GRCh38]
ChrX:6783100..7744191 [GRCh37]
ChrX:6793100..7704191 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:6787227-7971228)x0 copy number loss See cases [RCV000138056] ChrX:6787227..7971228 [GRCh38]
ChrX:6705268..7939269 [GRCh37]
ChrX:6715268..7899269 [NCBI36]
ChrX:Xp22.31
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 Xp22.31(chrX:6652896-8110114)x1 copy number loss See cases [RCV000138094] ChrX:6652896..8110114 [GRCh38]
ChrX:6570937..8078155 [GRCh37]
ChrX:6580937..8038155 [NCBI36]
ChrX:Xp22.31
likely benign
GRCh38/hg38 Xp22.31(chrX:6534648-8147112)x1 copy number loss See cases [RCV000137987] ChrX:6534648..8147112 [GRCh38]
ChrX:6452689..8115153 [GRCh37]
ChrX:6462689..8075153 [NCBI36]
ChrX:Xp22.31
likely benign
GRCh38/hg38 Xp22.31(chrX:6534648-8147112)x0 copy number loss See cases [RCV000137988] ChrX:6534648..8147112 [GRCh38]
ChrX:6452689..8115153 [GRCh37]
ChrX:6462689..8075153 [NCBI36]
ChrX:Xp22.31
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
NM_000351.7(STS):c.259+8_259+10del microsatellite not provided [RCV000514506] ChrX:7257368..7257370 [GRCh38]
ChrX:7175409..7175411 [GRCh37]
ChrX:Xp22.31
benign|likely benign
GRCh38/hg38 Xp22.31(chrX:6534654-8129470)x2 copy number gain See cases [RCV000138464] ChrX:6534654..8129470 [GRCh38]
ChrX:6452695..8097511 [GRCh37]
ChrX:6462695..8057511 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6534654-8129470)x0 copy number loss See cases [RCV000138465] ChrX:6534654..8129470 [GRCh38]
ChrX:6452695..8097511 [GRCh37]
ChrX:6462695..8057511 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:6837101-7899318)x0 copy number loss See cases [RCV000138374] ChrX:6837101..7899318 [GRCh38]
ChrX:6755142..7867359 [GRCh37]
ChrX:6765142..7827359 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:7088464-7325303)x2 copy number gain See cases [RCV000138301] ChrX:7088464..7325303 [GRCh38]
ChrX:7006505..7243344 [GRCh37]
ChrX:7016505..7253344 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.31(chrX:6220493-7169709)x3 copy number gain See cases [RCV000138320] ChrX:6220493..7169709 [GRCh38]
ChrX:6138534..7087750 [GRCh37]
ChrX:6148534..7097750 [NCBI36]
ChrX:Xp22.31
uncertain significance
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 Xp22.33-11.1(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-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 Xp22.31(chrX:7059443-7917114)x1 copy number loss See cases [RCV000138897] ChrX:7059443..7917114 [GRCh38]
ChrX:6977484..7885155 [GRCh37]
ChrX:6987484..7845155 [NCBI36]
ChrX:Xp22.31
likely benign
GRCh38/hg38 Xp22.31(chrX:6535008-8129470)x3 copy number gain See cases [RCV000139161] ChrX:6535008..8129470 [GRCh38]
ChrX:6453049..8097511 [GRCh37]
ChrX:6463049..8057511 [NCBI36]
ChrX:Xp22.31
benign
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 Xp22.31(chrX:6532387-8147053)x3 copy number gain See cases [RCV000140411] ChrX:6532387..8147053 [GRCh38]
ChrX:6450428..8115094 [GRCh37]
ChrX:6460428..8075094 [NCBI36]
ChrX:Xp22.31
likely benign
GRCh38/hg38 Xp22.31(chrX:6531647-8147053)x2 copy number gain See cases [RCV000140231] ChrX:6531647..8147053 [GRCh38]
ChrX:6449688..8115094 [GRCh37]
ChrX:6459688..8075094 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6531647-8147053)x3 copy number gain See cases [RCV000140233] ChrX:6531647..8147053 [GRCh38]
ChrX:6449688..8115094 [GRCh37]
ChrX:Xp22.31
likely benign
GRCh38/hg38 Xp22.31(chrX:6536171-8147053)x2 copy number gain See cases [RCV000140474] ChrX:6536171..8147053 [GRCh38]
ChrX:6454212..8115094 [GRCh37]
ChrX:6464212..8075094 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6536171-8147053)x1 copy number loss See cases [RCV000140475] ChrX:6536171..8147053 [GRCh38]
ChrX:6454212..8115094 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:6962488-7428484)x2 copy number gain See cases [RCV000140501] ChrX:6962488..7428484 [GRCh38]
ChrX:6880529..7346525 [GRCh37]
ChrX:6890529..7356525 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6534654-8529736)x3 copy number gain See cases [RCV000139606] ChrX:6534654..8529736 [GRCh38]
ChrX:6452695..8497777 [GRCh37]
ChrX:6462695..8457777 [NCBI36]
ChrX:Xp22.31
benign
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-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 Xp22.31(chrX:7135829-7339916)x2 copy number gain See cases [RCV000141843] ChrX:7135829..7339916 [GRCh38]
ChrX:7053870..7257957 [GRCh37]
ChrX:7063870..7267957 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.31(chrX:6837101-7319694)x2 copy number gain See cases [RCV000141603] ChrX:6837101..7319694 [GRCh38]
ChrX:6755142..7237735 [GRCh37]
ChrX:6765142..7247735 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.31(chrX:6652896-8129470)x3 copy number gain See cases [RCV000141608] ChrX:6652896..8129470 [GRCh38]
ChrX:6570937..8097511 [GRCh37]
ChrX:6580937..8057511 [NCBI36]
ChrX:Xp22.31
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 Xp22.33-11.22(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 Xp22.31(chrX:6537110-8167603)x1 copy number loss See cases [RCV000142228] ChrX:6537110..8167603 [GRCh38]
ChrX:6455151..8135644 [GRCh37]
ChrX:6465151..8095644 [NCBI36]
ChrX:Xp22.31
likely benign
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 Xp22.33-22.2(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 Xp22.31(chrX:6536327-8147112)x0 copy number loss See cases [RCV000143026] ChrX:6536327..8147112 [GRCh38]
ChrX:6454368..8115153 [GRCh37]
ChrX:6464368..8075153 [NCBI36]
ChrX:Xp22.31
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 Xp22.31(chrX:6531711-8099101)x0 copy number loss See cases [RCV000143097] ChrX:6531711..8099101 [GRCh38]
ChrX:6449752..8067142 [GRCh37]
ChrX:6459752..8027142 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31(chrX:7150681-7325303)x2 copy number gain See cases [RCV000142692] ChrX:7150681..7325303 [GRCh38]
ChrX:7068722..7243344 [GRCh37]
ChrX:7078722..7253344 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.31(chrX:6536171-8147112)x0 copy number loss See cases [RCV000142790] ChrX:6536171..8147112 [GRCh38]
ChrX:6454212..8115153 [GRCh37]
ChrX:6464212..8075153 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:6889694-7860183)x0 copy number loss See cases [RCV000142729] ChrX:6889694..7860183 [GRCh38]
ChrX:6807735..7828224 [GRCh37]
ChrX:6817735..7788224 [NCBI36]
ChrX:Xp22.31
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.31(chrX:7020870-7930853)x1 copy number loss See cases [RCV000143235] ChrX:7020870..7930853 [GRCh38]
ChrX:6938911..7898894 [GRCh37]
ChrX:6948911..7858894 [NCBI36]
ChrX:Xp22.31
likely benign
GRCh38/hg38 Xp22.32-22.31(chrX:6064555-7331311)x3 copy number gain See cases [RCV000143163] ChrX:6064555..7331311 [GRCh38]
ChrX:5982596..7249352 [GRCh37]
ChrX:5992596..7259352 [NCBI36]
ChrX:Xp22.32-22.31
uncertain significance
GRCh38/hg38 Xp22.31(chrX:6535272-8147112)x1 copy number loss See cases [RCV000143171] ChrX:6535272..8147112 [GRCh38]
ChrX:6453313..8115153 [GRCh37]
ChrX:6463313..8075153 [NCBI36]
ChrX:Xp22.31
likely benign
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 Xp22.31(chrX:6537108-8167603)x1 copy number loss See cases [RCV000143760] ChrX:6537108..8167603 [GRCh38]
ChrX:6455149..8135644 [GRCh37]
ChrX:6465149..8095644 [NCBI36]
ChrX:Xp22.31
likely benign
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 Xp22.31(chrX:7297294-7481693)x2 copy number gain See cases [RCV000143518] ChrX:7297294..7481693 [GRCh38]
ChrX:7215335..7399734 [GRCh37]
ChrX:7225335..7409734 [NCBI36]
ChrX:Xp22.31
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
GRCh38/hg38 Xp22.31(chrX:6922830-8167603)x1 copy number loss See cases [RCV000143570] ChrX:6922830..8167603 [GRCh38]
ChrX:6840871..8135644 [GRCh37]
ChrX:6850871..8095644 [NCBI36]
ChrX:Xp22.31
likely benign
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 Xp22.31(chrX:6570680-8129470)x0 copy number loss See cases [RCV000148137] ChrX:6570680..8129470 [GRCh38]
ChrX:6488721..8097511 [GRCh37]
ChrX:6498721..8057511 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:6570680-8129470)x1 copy number loss See cases [RCV000148177] ChrX:6570680..8129470 [GRCh38]
ChrX:6488721..8097511 [GRCh37]
ChrX:6498721..8057511 [NCBI36]
ChrX:Xp22.31
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
NC_000023.11:g.(6499768_6517018)_(8187691_8193324)del deletion X-linked ichthyosis with steryl-sulfatase deficiency [RCV000191013] ChrX:6517018..8187691 [GRCh38]
ChrX:Xp22.31
pathogenic
NC_000023.11:g.(6560264_6560764)_(8187691_8193324)del deletion X-linked ichthyosis with steryl-sulfatase deficiency [RCV000191014] ChrX:6560764..8187691 [GRCh38]
ChrX:Xp22.31
pathogenic
NC_000023.11:g.(6674278_6675309)_(7911900_7922037)del deletion X-linked ichthyosis with steryl-sulfatase deficiency [RCV000191015] ChrX:6675309..7911900 [GRCh38]
ChrX:Xp22.31
pathogenic
NC_000023.11:g.(6500268_6517018)_(7739446_7762747)del deletion X-linked ichthyosis with steryl-sulfatase deficiency [RCV000191016] ChrX:6517018..7739446 [GRCh38]
ChrX:Xp22.31
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 Xp22.31(chrX:6456036-8139238)x0 copy number loss See cases [RCV000240187] ChrX:6456036..8139238 [GRCh37]
ChrX:Xp22.31
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 Xp22.31(chrX:6477550-8119329)x2 copy number gain See cases [RCV000203437] ChrX:6477550..8119329 [GRCh37]
ChrX:Xp22.31
likely pathogenic
GRCh37/hg19 Xp22.31(chrX:6750764-7615046)x2 copy number gain See cases [RCV000449030] ChrX:6750764..7615046 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:7196322-7810731)x2 copy number gain See cases [RCV000449044] ChrX:7196322..7810731 [GRCh37]
ChrX:Xp22.31
uncertain significance
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 Xp22.31(chrX:6516735-8135053)x3 copy number gain Premature ovarian failure [RCV000225328] ChrX:6516735..8135053 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.31(chrX:7153846-7469635)x2 copy number gain See cases [RCV000239881] ChrX:7153846..7469635 [GRCh37]
ChrX:Xp22.31
uncertain significance
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 Xp22.31(chrX:6449233-8135644)x1 copy number loss See cases [RCV000511313] ChrX:6449233..8135644 [GRCh37]
ChrX:Xp22.31
likely benign
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 Xp22.31(chrX:6639808-7896607)x0 copy number loss See cases [RCV000239894] ChrX:6639808..7896607 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xp22.33-22.2(chrX:71267-12032064)x1 copy number loss See cases [RCV000240338] ChrX:71267..12032064 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.31(chrX:6497085-7910475) copy number loss Ichthyosis (disease) [RCV000415106] ChrX:6497085..7910475 [GRCh37]
ChrX:Xp22.31
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:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.31(chrX:6512892-7936824)x0 copy number loss See cases [RCV000449452] ChrX:6512892..7936824 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:7269569-7706446)x2 copy number gain See cases [RCV000449460] ChrX:7269569..7706446 [GRCh37]
ChrX:Xp22.31
benign
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 Xp22.31(chrX:6885115-7598065)x3 copy number gain See cases [RCV000449158] ChrX:6885115..7598065 [GRCh37]
ChrX:Xp22.31
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 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31(chrX:6448751-8135644)x3 copy number gain See cases [RCV000446844] ChrX:6448751..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
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:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.31(chrX:6453036-8139186)x3 copy number gain See cases [RCV000446884] ChrX:6453036..8139186 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:6456036-8131751)x1 copy number loss See cases [RCV000447210] ChrX:6456036..8131751 [GRCh37]
ChrX:Xp22.31
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 Xp22.31(chrX:6453036-8151615)x2 copy number gain See cases [RCV000447585] ChrX:6453036..8151615 [GRCh37]
ChrX:Xp22.31
likely benign
GRCh37/hg19 Xp22.31(chrX:6455151-8135644)x1 copy number loss See cases [RCV000447621] ChrX:6455151..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
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 Xp22.31(chrX:6453036-8151615)x3 copy number gain See cases [RCV000446183] ChrX:6453036..8151615 [GRCh37]
ChrX:Xp22.31
likely benign
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 Xp22.31(chrX:7023868-7218800)x3 copy number gain See cases [RCV000446070] ChrX:7023868..7218800 [GRCh37]
ChrX:Xp22.31
likely benign
GRCh37/hg19 Xp22.31(chrX:6552712-7341214)x2 copy number gain See cases [RCV000447198] ChrX:6552712..7341214 [GRCh37]
ChrX:Xp22.31
likely benign
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 Xp22.31(chrX:6455361-8135644)x3 copy number gain See cases [RCV000447649] ChrX:6455361..8135644 [GRCh37]
ChrX:Xp22.31
likely benign
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 Xp22.31(chrX:6449752-8135644)x0 copy number loss See cases [RCV000445887] ChrX:6449752..8135644 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6750764-7252765)x3 copy number gain See cases [RCV000510721] ChrX:6750764..7252765 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6458939-8135644)x0 copy number loss See cases [RCV000445683] ChrX:6458939..8135644 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6449836-8135644)x2 copy number gain See cases [RCV000445690] ChrX:6449836..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6455150-8135644)x2 copy number gain See cases [RCV000445820] ChrX:6455150..8135644 [GRCh37]
ChrX:Xp22.31
likely benign
GRCh37/hg19 Xp22.31(chrX:7225002-7241455)x0 copy number loss See cases [RCV000445825] ChrX:7225002..7241455 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6895245-7598065)x2 copy number gain See cases [RCV000448727] ChrX:6895245..7598065 [GRCh37]
ChrX:Xp22.31
likely benign
GRCh37/hg19 Xp22.31(chrX:6449752-8135644)x3 copy number gain See cases [RCV000448249] ChrX:6449752..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
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 Xp22.33-22.31(chrX:3711398-9389098)x0 copy number loss See cases [RCV000447912] ChrX:3711398..9389098 [GRCh37]
ChrX:Xp22.33-22.31
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 Xp22.31(chrX:6456036-8131751)x0 copy number loss See cases [RCV000448943] ChrX:6456036..8131751 [GRCh37]
ChrX:Xp22.31
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
NC_000023.11:g.(?_6768943)_(7796577_?)dup duplication Schizophrenia [RCV000416627] ChrX:6768943..7796577 [GRCh38]
ChrX:6696984..7724618 [NCBI36]
ChrX:Xp22.31
likely pathogenic
NC_000023.11:g.(?_6535136)_(8151196_?)dup duplication Schizophrenia [RCV000416632] ChrX:6535136..8151196 [GRCh38]
ChrX:6463177..8079237 [NCBI36]
ChrX:Xp22.31
likely 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 Xp22.31(chrX:6453036-8131751)x3 copy number gain See cases [RCV000447725] ChrX:6453036..8131751 [GRCh37]
ChrX:Xp22.31
likely benign
NC_000023.11:g.(?_6528271)_(8167329_?)del deletion Schizophrenia [RCV000416717] ChrX:6528271..8167329 [GRCh38]
ChrX:6456312..8095370 [NCBI36]
ChrX:Xp22.31
likely pathogenic
NC_000023.11:g.(?_6538718)_(8151196_?)del deletion Schizophrenia [RCV000416751] ChrX:6538718..8151196 [GRCh38]
ChrX:6466759..8079237 [NCBI36]
ChrX:Xp22.31
likely pathogenic
NC_000023.11:g.(?_6780568)_(7922451_?)del deletion Schizophrenia [RCV000416771] ChrX:6780568..7922451 [GRCh38]
ChrX:6708609..7850492 [NCBI36]
ChrX:Xp22.31
likely pathogenic
GRCh37/hg19 Xp22.31(chrX:6722953-8135053)x0 copy number loss See cases [RCV000448655] ChrX:6722953..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
NC_000023.11:g.(?_6528271)_(8151196_?)dup duplication Schizophrenia [RCV000416821] ChrX:6528271..8151196 [GRCh38]
ChrX:6456312..8079237 [NCBI36]
ChrX:Xp22.31
likely pathogenic
GRCh37/hg19 Xp22.31(chrX:7187971-8327789)x2 copy number gain See cases [RCV000448205] ChrX:7187971..8327789 [GRCh37]
ChrX:Xp22.31
uncertain significance
NC_000023.11:g.(?_6538718)_(8151196_?)dup duplication Schizophrenia [RCV000416896] ChrX:6538718..8151196 [GRCh38]
ChrX:6466759..8079237 [NCBI36]
ChrX:Xp22.31
likely pathogenic
GRCh37/hg19 Xp22.31(chrX:7218800-7391581)x3 copy number gain See cases [RCV000448467] ChrX:7218800..7391581 [GRCh37]
ChrX:Xp22.31
benign
NM_000351.6(STS):c.1129C>T (p.Arg377Trp) single nucleotide variant not provided [RCV000481064] ChrX:7325371 [GRCh38]
ChrX:7243412 [GRCh37]
ChrX:Xp22.31
likely pathogenic
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 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-21.1(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 Xp22.31(chrX:6449752-8135644)x0 copy number loss See cases [RCV000510141] ChrX:6449752..8135644 [GRCh37]
ChrX:Xp22.31
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 Xp22.33-11.21(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 Xp22.31-22.2(chrX:6954111-10636640)x1 copy number loss See cases [RCV000511565] ChrX:6954111..10636640 [GRCh37]
ChrX:Xp22.31-22.2
uncertain significance
GRCh37/hg19 Xp22.31(chrX:7252959-7394015)x2 copy number gain See cases [RCV000511738] ChrX:7252959..7394015 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:7051682-7252880)x3 copy number gain See cases [RCV000511804] ChrX:7051682..7252880 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6523326-8127576)x0 copy number loss See cases [RCV000511516] ChrX:6523326..8127576 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6458939-8135644)x0 copy number loss See cases [RCV000511696] ChrX:6458939..8135644 [GRCh37]
ChrX:Xp22.31
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-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.31(chrX:6458939-8135053)x0 copy number loss See cases [RCV000511045] ChrX:6458939..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
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 Xp22.31(chrX:6458939-8135644)x1 copy number loss See cases [RCV000510851] ChrX:6458939..8135644 [GRCh37]
ChrX:Xp22.31
likely benign
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 Xp22.31(chrX:6430651-8034993)x1 copy number loss See cases [RCV000515581] ChrX:6430651..8034993 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6962965-7745286)x0 copy number loss See cases [RCV000515604] ChrX:6962965..7745286 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000351.6(STS):c.265G>A (p.Val89Ile) single nucleotide variant Inborn genetic diseases [RCV000623994] ChrX:7257354 [GRCh38]
ChrX:7175395 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6451799-8141017)x1 copy number loss See cases [RCV000790571] ChrX:6451799..8141017 [GRCh37]
ChrX:Xp22.31
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
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 Xp22.31(chrX:6559117-7161445)x2 copy number gain See cases [RCV000512295] ChrX:6559117..7161445 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6488721-8097511) copy number loss Autistic disorder of childhood onset [RCV000626552] ChrX:6488721..8097511 [GRCh37]
ChrX:Xp22.31
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
Single allele duplication not provided [RCV000678030] ChrX:6453036..8139238 [GRCh37]
ChrX:Xp22.31
uncertain significance
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 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:2051958-8135053)x1 copy number loss not provided [RCV000684231] ChrX:2051958..8135053 [GRCh37]
ChrX:Xp22.33-22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6429319-8135644)x3 copy number gain not provided [RCV000684242] ChrX:6429319..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6448751-8135644)x3 copy number gain not provided [RCV000684243] ChrX:6448751..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6448751-8135644)x1 copy number loss not provided [RCV000684244] ChrX:6448751..8135644 [GRCh37]
ChrX:Xp22.31
pathogenic|uncertain significance
GRCh37/hg19 Xp22.31(chrX:6455151-8128200)x3 copy number gain not provided [RCV000684247] ChrX:6455151..8128200 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6500765-8135644)x3 copy number gain not provided [RCV000684248] ChrX:6500765..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6542443-7951092)x0 copy number loss not provided [RCV000684249] ChrX:6542443..7951092 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6577106-8041392)x0 copy number loss not provided [RCV000684250] ChrX:6577106..8041392 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6449233-8135644)x2 copy number gain not provided [RCV000684245] ChrX:6449233..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6449236-8135644)x0 copy number loss not provided [RCV000684246] ChrX:6449236..8135644 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6621975-7329173)x3 copy number gain not provided [RCV000684252] ChrX:6621975..7329173 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6759774-7766481)x1 copy number loss not provided [RCV000684255] ChrX:6759774..7766481 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6912488-7360874)x3 copy number gain not provided [RCV000684257] ChrX:6912488..7360874 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:7039463-7249352)x2 copy number gain not provided [RCV000684258] ChrX:7039463..7249352 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:7143912-7185127)x0 copy number loss not provided [RCV000684259] ChrX:7143912..7185127 [GRCh37]
ChrX:Xp22.31
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 Xp22.31(chrX:6598868-7966755)x1 copy number loss not provided [RCV000684251] ChrX:6598868..7966755 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6709092-8135053)x0 copy number loss not provided [RCV000684254] ChrX:6709092..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:7200568-8003899)x3 copy number gain not provided [RCV000684260] ChrX:7200568..8003899 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6896604-7781813)x2 copy number gain not provided [RCV000684256] ChrX:6896604..7781813 [GRCh37]
ChrX:Xp22.31
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 Xp22.33-22.31(chrX:168546-7796566)x1 copy number loss not provided [RCV000684180] ChrX:168546..7796566 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6631977-8135644)x3 copy number gain not provided [RCV000684253] ChrX:6631977..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
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
Single allele deletion Dystonia [RCV001004040] ChrX:6453783..8133115 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6442425-8135239)x3 copy number gain not provided [RCV000753330] ChrX:6442425..8135239 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6446825-8144888)x3 copy number gain not provided [RCV000753332] ChrX:6446825..8144888 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6451799-8135053)x0 copy number loss not provided [RCV000753335] ChrX:6451799..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6454813-8135053)x2 copy number gain not provided [RCV000753340] ChrX:6454813..8135053 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6454813-8135239)x2 copy number gain not provided [RCV000753341] ChrX:6454813..8135239 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x3 copy number gain not provided [RCV000753345] ChrX:6456940..8135053 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0 copy number loss not provided [RCV000753346] ChrX:6456940..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6883634-7554670)x3 copy number gain not provided [RCV000753349] ChrX:6883634..7554670 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:7007959-7269320)x3 copy number gain not provided [RCV000753350] ChrX:7007959..7269320 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:7041357-7234593)x2 copy number gain not provided [RCV000753351] ChrX:7041357..7234593 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:7113308-7255259)x2 copy number gain not provided [RCV000753352] ChrX:7113308..7255259 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:7236970-7828792)x3 copy number gain not provided [RCV000753353] ChrX:7236970..7828792 [GRCh37]
ChrX:Xp22.31
likely benign
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 Xp22.31(chrX:6449601-8135053)x1 copy number loss not provided [RCV000753334] ChrX:6449601..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6454813-8139581)x2 copy number gain not provided [RCV000753342] ChrX:6454813..8139581 [GRCh37]
ChrX:Xp22.31
uncertain significance
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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely pathogenic
NC_000023.11:g.(?_6526750)_(8172018_?)del deletion Schizophrenia [RCV000754375] ChrX:6526750..8172018 [GRCh38]
ChrX:Xp22.31
likely pathogenic
NC_000023.11:g.(?_6536927)_(8156323_?)del deletion Schizophrenia [RCV000754376] ChrX:6536927..8156323 [GRCh38]
ChrX:Xp22.31
likely pathogenic
NC_000023.11:g.(?_6776477)_(7923774_?)del deletion Schizophrenia [RCV000754377] ChrX:6776477..7923774 [GRCh38]
ChrX:Xp22.31
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Primary amenorrhea [RCV000754479] ChrX:6456036..8133172 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.31(chrX:6596639-8135053)x3 copy number gain See cases [RCV000790594] ChrX:6596639..8135053 [GRCh37]
ChrX:Xp22.31
likely pathogenic
NM_001320752.2(STS):c.1238A>G (p.Asp413Gly) single nucleotide variant not provided [RCV000878605] ChrX:7325495 [GRCh38]
ChrX:7243536 [GRCh37]
ChrX:Xp22.31
benign
NM_001320752.2(STS):c.1549C>T (p.Arg517Trp) single nucleotide variant not provided [RCV000951466] ChrX:7350073 [GRCh38]
ChrX:7268114 [GRCh37]
ChrX:Xp22.31
benign
NM_001320752.2(STS):c.944-10T>C single nucleotide variant not provided [RCV000945329] ChrX:7305036 [GRCh38]
ChrX:7223077 [GRCh37]
ChrX:Xp22.31
benign
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 Xp22.33-22.31(chrX:1-9298403) copy number loss not provided [RCV000767649] ChrX:1..9298403 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6497085-8135053) copy number loss X-linked ichthyosis with steryl-sulfatase deficiency [RCV000767690] ChrX:6497085..8135053 [GRCh37]
ChrX:Xp22.31
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 Xp22.31(chrX:6696168-7396902) copy number loss X-linked ichthyosis with steryl-sulfatase deficiency [RCV000767650] ChrX:6696168..7396902 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6497085-7910475) copy number loss X-linked ichthyosis with steryl-sulfatase deficiency [RCV000767691] ChrX:6497085..7910475 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_001320752.2(STS):c.807-4G>T single nucleotide variant not provided [RCV000945735] ChrX:7275947 [GRCh38]
ChrX:7193988 [GRCh37]
ChrX:Xp22.31
likely benign
NM_001320752.2(STS):c.792C>A (p.Ala264=) single nucleotide variant not provided [RCV000920751] ChrX:7259758 [GRCh38]
ChrX:7177799 [GRCh37]
ChrX:Xp22.31
likely benign
NM_001320752.2(STS):c.288T>C (p.Val96=) single nucleotide variant not provided [RCV000952637] ChrX:7257494 [GRCh38]
ChrX:7175535 [GRCh37]
ChrX:Xp22.31
benign|likely benign
NM_001320752.2(STS):c.138-9T>G single nucleotide variant not provided [RCV000964675] ChrX:7257233 [GRCh38]
ChrX:7175274 [GRCh37]
ChrX:Xp22.31
likely benign
NM_001320752.2(STS):c.789G>A (p.Ala263=) single nucleotide variant not provided [RCV000946248] ChrX:7259755 [GRCh38]
ChrX:7177796 [GRCh37]
ChrX:Xp22.31
likely benign
NM_001320752.2(STS):c.1733G>A (p.Arg578His) single nucleotide variant not provided [RCV000963233] ChrX:7350257 [GRCh38]
ChrX:7268298 [GRCh37]
ChrX:Xp22.31
benign
NM_001320752.2(STS):c.154C>T (p.Arg52Trp) single nucleotide variant not provided [RCV000946168] ChrX:7257258 [GRCh38]
ChrX:7175299 [GRCh37]
ChrX:Xp22.31
benign
NM_001320752.2(STS):c.1476C>T (p.His492=) single nucleotide variant not provided [RCV000964653] ChrX:7350000 [GRCh38]
ChrX:7268041 [GRCh37]
ChrX:Xp22.31
benign
NM_001320752.2(STS):c.1124G>C (p.Gly375Ala) single nucleotide variant not provided [RCV000952068] ChrX:7325381 [GRCh38]
ChrX:7243422 [GRCh37]
ChrX:Xp22.31
benign
NC_000023.11:g.(?_7050296)_(7350261_?)del deletion not provided [RCV000817290] ChrX:7050296..7350261 [GRCh38]
ChrX:6968337..7268302 [GRCh37]
ChrX:Xp22.31
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.31(chrX:6896604-7887498)x1 copy number loss not provided [RCV001007247] ChrX:6896604..7887498 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_000351.6(STS):c.1126A>G (p.Ile376Val) single nucleotide variant X-linked ichthyosis with steryl-sulfatase deficiency [RCV000791007] ChrX:7325368 [GRCh38]
ChrX:7243409 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6455149-8135645)x1 copy number loss not provided [RCV000846707] ChrX:6455149..8135645 [GRCh37]
ChrX:Xp22.31
uncertain significance
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 Xp22.33-22.2(chrX:2703632-14129100)x2 copy number gain not provided [RCV000847649] ChrX:2703632..14129100 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_001320752.2(STS):c.506A>G (p.Glu169Gly) single nucleotide variant not provided [RCV000943001] ChrX:7259472 [GRCh38]
ChrX:7177513 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_001320752.2(STS):c.52G>A (p.Ala18Thr) single nucleotide variant not provided [RCV000960407] ChrX:7253251 [GRCh38]
ChrX:7171292 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:6449752-8135645)x2 copy number gain not provided [RCV000846381] ChrX:6449752..8135645 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6449836-8135645)x1 copy number loss not provided [RCV000846489] ChrX:6449836..8135645 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6449836-8135645)x1 copy number loss not provided [RCV000846723] ChrX:6449836..8135645 [GRCh37]
ChrX:Xp22.31
pathogenic
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-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] 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 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31(chrX:7056909-8005133)x3 copy number gain Intellectual disability [RCV001250261] ChrX:7056909..8005133 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_000351.6(STS):c.287G>A (p.Trp96Ter) single nucleotide variant X-linked ichthyosis with steryl-sulfatase deficiency [RCV000853199] ChrX:7257478 [GRCh38]
ChrX:7175519 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_001320752.2(STS):c.1566C>T (p.Leu522=) single nucleotide variant not provided [RCV000951667] ChrX:7350090 [GRCh38]
ChrX:7268131 [GRCh37]
ChrX:Xp22.31
benign
NM_001320752.2(STS):c.964G>A (p.Asp322Asn) single nucleotide variant not provided [RCV000951767] ChrX:7305066 [GRCh38]
ChrX:7223107 [GRCh37]
ChrX:Xp22.31
benign
NM_001320752.2(STS):c.138G>A (p.Arg46=) single nucleotide variant not provided [RCV000973328] ChrX:7257242 [GRCh38]
ChrX:7175283 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0 copy number loss See cases [RCV001007444] ChrX:6456940..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6696273-7399447)x2 copy number gain not provided [RCV001007245] ChrX:6696273..7399447 [GRCh37]
ChrX:Xp22.31
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 Xp22.31(chrX:6450700-8138035)x2 copy number gain See cases [RCV001194517] ChrX:6450700..8138035 [GRCh37]
ChrX:Xp22.31
likely pathogenic
GRCh37/hg19 Xp22.31(chrX:6458166-8135053)x2 copy number gain See cases [RCV001194571] ChrX:6458166..8135053 [GRCh37]
ChrX:Xp22.31
likely pathogenic
GRCh37/hg19 Xp22.31(chrX:6476350-8135053)x3 copy number gain See cases [RCV001194572] ChrX:6476350..8135053 [GRCh37]
ChrX:Xp22.31
likely pathogenic
GRCh37/hg19 Xp22.31(chrX:7252959-7391892)x2 copy number gain not provided [RCV001007248] ChrX:7252959..7391892 [GRCh37]
ChrX:Xp22.31
uncertain significance
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 Xp22.31(chrX:6784328-8071202)x0 copy number loss not provided [RCV001007246] ChrX:6784328..8071202 [GRCh37]
ChrX:Xp22.31
pathogenic
NM_001320752.2(STS):c.1082-18T>C single nucleotide variant X-linked ichthyosis with steryl-sulfatase deficiency [RCV001197123] ChrX:7325321 [GRCh38]
ChrX:7243362 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6453324-8136507)x0 copy number loss See cases [RCV001263030] ChrX:6453324..8136507 [GRCh37]
ChrX:Xp22.31
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 Xp22.31(chrX:6715352-7806067)x0 copy number loss not provided [RCV001260013] ChrX:6715352..7806067 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:7266135-7366211)x3 copy number gain not provided [RCV001260016] ChrX:7266135..7366211 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:7266135-7391892)x3 copy number gain not provided [RCV001260017] ChrX:7266135..7391892 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:7000688-7241455)x2 copy number gain not provided [RCV001260018] ChrX:7000688..7241455 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:7168745-7754214)x3 copy number gain not provided [RCV001260019] ChrX:7168745..7754214 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:7137717-7268302)x0 copy number loss not provided [RCV001311122] ChrX:7137717..7268302 [GRCh37]
ChrX:Xp22.31
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 Xp22.31(chrX:7137497-7272667)x0 copy number loss not provided [RCV001311121] ChrX:7137497..7272667 [GRCh37]
ChrX:Xp22.31
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11425 AgrOrtholog
COSMIC STS COSMIC
Ensembl Genes ENSG00000101846 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000217961 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000499472 UniProtKB/TrEMBL
  ENSP00000499549 UniProtKB/TrEMBL
  ENSP00000499642 UniProtKB/TrEMBL
  ENSP00000501360 UniProtKB/Swiss-Prot
  ENSP00000501534 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000217961 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000660000 UniProtKB/TrEMBL
  ENST00000664306 UniProtKB/TrEMBL
  ENST00000666110 UniProtKB/TrEMBL
  ENST00000674429 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000674499 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.720.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101846 GTEx
HGNC ID HGNC:11425 ENTREZGENE
Human Proteome Map STS Human Proteome Map
InterPro Alkaline_phosphatase_core_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sulfatase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sulfatase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:412 UniProtKB/Swiss-Prot
NCBI Gene 412 ENTREZGENE
OMIM 300747 OMIM
  308100 OMIM
Pfam Sulfatase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36225 PharmGKB
PROSITE SULFATASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SULFATASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF53649 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A590UJL0_HUMAN UniProtKB/TrEMBL
  A0A590UJT4_HUMAN UniProtKB/TrEMBL
  A0A590UJY9_HUMAN UniProtKB/TrEMBL
  A6PYA4 ENTREZGENE, UniProtKB/TrEMBL
  C7BWB5_HUMAN UniProtKB/TrEMBL
  P08842 ENTREZGENE
  Q0W975 ENTREZGENE, UniProtKB/TrEMBL
  Q16244_HUMAN UniProtKB/TrEMBL
  STS_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0A6I8PRU4 UniProtKB/TrEMBL
  B2RA47 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-01-24 STS  steroid sulfatase    steroid sulfatase (microsomal), isozyme S  Symbol and/or name change 5135510 APPROVED
2011-08-16 STS  steroid sulfatase (microsomal), isozyme S  STS  steroid sulfatase (microsomal), isozyme S  Symbol and/or name change 5135510 APPROVED