XG (Xg glycoprotein (Xg blood group)) - Rat Genome Database

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Gene: XG (Xg glycoprotein (Xg blood group)) Homo sapiens
Analyze
Symbol: XG
Name: Xg glycoprotein (Xg blood group)
RGD ID: 1349793
HGNC Page HGNC
Description: Predicted to be involved in T cell extravasation; homotypic cell-cell adhesion; and positive regulation of neutrophil extravasation. Localizes to integral component of plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: glycoprotein Xg; MGC118758; MGC118759; MGC118760; MGC118761; PBDX; Xg blood group; Xg blood group (pseudoautosomal boundary-divided on the X chromosome); XG glycoprotein
RGD Orthologs
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: XGY1   XGY2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX2,752,048 - 2,816,500 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX2,752,040 - 2,816,500 (+)EnsemblGRCh38hg38GRCh38
GRCh38X2,751,104 - 2,816,500 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X2,670,081 - 2,734,541 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X2,680,115 - 2,743,968 (+)NCBINCBI36hg18NCBI36
Build 34X2,663,475 - 2,727,327NCBI
CeleraX6,950,542 - 7,014,968 (+)NCBI
Cytogenetic MapXp22.33NCBI
HuRefX612,013 - 676,908 (+)NCBIHuRef
CHM1_1X2,701,251 - 2,765,741 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizophrenia  (IAGP)
References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:3007328   PMID:6482910   PMID:7533029   PMID:7633446   PMID:8054981   PMID:10688843   PMID:10941840   PMID:12477932   PMID:18789743   PMID:21873635   PMID:24132906   PMID:30061310  


Genomics

Comparative Map Data
XG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX2,752,048 - 2,816,500 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX2,752,040 - 2,816,500 (+)EnsemblGRCh38hg38GRCh38
GRCh38X2,751,104 - 2,816,500 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X2,670,081 - 2,734,541 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X2,680,115 - 2,743,968 (+)NCBINCBI36hg18NCBI36
Build 34X2,663,475 - 2,727,327NCBI
CeleraX6,950,542 - 7,014,968 (+)NCBI
Cytogenetic MapXp22.33NCBI
HuRefX612,013 - 676,908 (+)NCBIHuRef
CHM1_1X2,701,251 - 2,765,741 (+)NCBICHM1_1
Xg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554991,654,037 - 1,684,150 (+)NCBIChiLan1.0ChiLan1.0
XG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X2,705,466 - 2,768,719 (+)NCBIpanpan1.1PanPan1.1panPan2
XG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X1,437,659 - 1,464,529 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX1,438,006 - 1,463,111 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX1,388,319 - 1,415,087 (+)NCBI
ROS_Cfam_1.0X1,361,142 - 1,388,076 (+)NCBI
UMICH_Zoey_3.1X1,351,619 - 1,378,818 (+)NCBI
UNSW_CanFamBas_1.0X1,368,709 - 1,395,486 (+)NCBI
UU_Cfam_GSD_1.0X1,404,195 - 1,431,793 (+)NCBI
Xg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404953823,405 - 841,478 (+)NCBI
SpeTri2.0NW_0049366443,535,525 - 3,544,934 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
XG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX11,144 - 36,607 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1Y7,661,275 - 7,691,114 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
XG
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X898,288 - 1,018,590 (+)NCBI
ChlSab1.1 EnsemblX899,262 - 1,018,013 (+)Ensembl
Xg
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248341,199,210 - 1,239,518 (+)NCBI

Position Markers
G43566  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Y14,547,240 - 14,547,389UniSTSGRCh37
GRCh37X2,733,616 - 2,733,765UniSTSGRCh37
Build 36X2,743,616 - 2,743,765RGDNCBI36
CeleraX7,014,031 - 7,014,180UniSTS
CeleraX1,533,475 - 1,533,624RGD
Cytogenetic MapXp22.33UniSTS
HuRefX675,967 - 676,116UniSTS
HuRefY9,201,411 - 9,201,560UniSTS
GDB:453371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X2,699,089 - 2,700,046UniSTSGRCh37
Build 36X2,709,089 - 2,710,046RGDNCBI36
CeleraX6,979,523 - 6,980,480RGD
Cytogenetic MapXp22.33UniSTS
HuRefX640,867 - 641,824UniSTS
GDB:293911  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X2,699,276 - 2,700,046UniSTSGRCh37
Build 36X2,709,276 - 2,710,046RGDNCBI36
CeleraX6,979,710 - 6,980,480RGD
Cytogenetic MapXp22.33UniSTS
HuRefX641,054 - 641,824UniSTS
RH123526  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X2,712,013 - 2,712,357UniSTSGRCh37
Build 36X2,722,013 - 2,722,357RGDNCBI36
CeleraX6,992,447 - 6,992,791RGD
Cytogenetic MapXp22.33UniSTS
HuRefX653,891 - 654,235UniSTS
XG_8728  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X2,733,165 - 2,733,987UniSTSGRCh37
Build 36X2,743,165 - 2,743,987RGDNCBI36
CeleraX7,013,580 - 7,014,414RGD
HuRefX675,516 - 676,354UniSTS
G18194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X2,716,218 - 2,716,360UniSTSGRCh37
Build 36X2,726,218 - 2,726,360RGDNCBI36
CeleraX6,996,652 - 6,996,794RGD
Cytogenetic MapXp22.33UniSTS
HuRefX658,020 - 658,162UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2314
Count of miRNA genes:1040
Interacting mature miRNAs:1244
Transcripts:ENST00000381174, ENST00000419513, ENST00000426774, ENST00000503018, ENST00000509484, ENST00000519244
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


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 20 863 32 43 1 2 2554 51 203 13 169 62 45 585 1366
Low 1009 957 861 308 170 190 1675 1416 556 113 633 1076 123 615 1360 3
Below cutoff 1328 1051 696 223 1215 224 102 699 2317 192 604 341 1 4 62 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001141919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001141920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_175569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005274587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC006209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC138085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF380356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF534880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC100767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX098030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX379565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z48517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000381174   ⟹   ENSP00000370566
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,752,052 - 2,815,927 (+)Ensembl
RefSeq Acc Id: ENST00000419513   ⟹   ENSP00000411004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,752,048 - 2,814,447 (+)Ensembl
RefSeq Acc Id: ENST00000503018
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,752,296 - 2,774,996 (+)Ensembl
RefSeq Acc Id: ENST00000509484   ⟹   ENSP00000430005
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,752,048 - 2,814,447 (+)Ensembl
RefSeq Acc Id: ENST00000519244
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,794,535 - 2,808,377 (+)Ensembl
RefSeq Acc Id: ENST00000644266   ⟹   ENSP00000494087
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX2,752,052 - 2,816,500 (+)Ensembl
RefSeq Acc Id: NM_001141919   ⟹   NP_001135391
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,752,040 - 2,816,500 (+)NCBI
GRCh37X2,670,069 - 2,734,541 (+)NCBI
CeleraX6,950,542 - 7,014,968 (+)RGD
HuRefX612,013 - 676,908 (+)RGD
CHM1_1X2,701,251 - 2,765,741 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001141920   ⟹   NP_001135392
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,752,040 - 2,816,500 (+)NCBI
GRCh37X2,670,069 - 2,734,541 (+)NCBI
CeleraX6,950,542 - 7,014,968 (+)RGD
HuRefX612,013 - 676,908 (+)RGD
CHM1_1X2,701,251 - 2,765,741 (+)NCBI
Sequence:
RefSeq Acc Id: NM_175569   ⟹   NP_780778
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,752,040 - 2,816,500 (+)NCBI
GRCh37X2,670,069 - 2,734,541 (+)NCBI
Build 36X2,680,115 - 2,743,968 (+)NCBI Archive
CeleraX6,950,542 - 7,014,968 (+)RGD
HuRefX612,013 - 676,908 (+)RGD
CHM1_1X2,701,251 - 2,765,741 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005274587   ⟹   XP_005274644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,751,121 - 2,816,500 (+)NCBI
GRCh37X2,670,069 - 2,734,541 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545575   ⟹   XP_011543877
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,751,107 - 2,816,500 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029787   ⟹   XP_016885276
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,751,104 - 2,816,500 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_780778   ⟸   NM_175569
- Peptide Label: isoform 1 precursor
- UniProtKB: P55808 (UniProtKB/Swiss-Prot),   B4E289 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001135391   ⟸   NM_001141919
- Peptide Label: isoform 2 precursor
- UniProtKB: P55808 (UniProtKB/Swiss-Prot),   B4E289 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001135392   ⟸   NM_001141920
- Peptide Label: isoform 3 precursor
- UniProtKB: P55808 (UniProtKB/Swiss-Prot),   B4E289 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005274644   ⟸   XM_005274587
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011543877   ⟸   XM_011545575
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016885276   ⟸   XM_017029787
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000430005   ⟸   ENST00000509484
RefSeq Acc Id: ENSP00000411004   ⟸   ENST00000419513
RefSeq Acc Id: ENSP00000494087   ⟸   ENST00000644266
RefSeq Acc Id: ENSP00000370566   ⟸   ENST00000381174

Promoters
RGD ID:13604644
Promoter ID:EPDNEW_H28506
Type:initiation region
Name:XG_1
Description:Xg blood group
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28507  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,752,071 - 2,752,131EPDNEW
RGD ID:13604646
Promoter ID:EPDNEW_H28507
Type:initiation region
Name:XG_2
Description:Xg blood group
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28506  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X2,752,247 - 2,752,307EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33(chrX:2777300-2877956)x0 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050371]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050371]|See cases [RCV000050371] ChrX:2777300..2877956 [GRCh38]
ChrX:2695341..2795997 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33(chrX:2782275-2904175)x0 copy number loss See cases [RCV000051381] ChrX:2782275..2904175 [GRCh38]
ChrX:2700316..2822216 [GRCh37]
ChrX:2710316..2832216 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33(chrX:2790845-2877956)x0 copy number loss See cases [RCV000051382] ChrX:2790845..2877956 [GRCh38]
ChrX:2708886..2795997 [GRCh37]
ChrX:2718886..2805997 [NCBI36]
ChrX:Xp22.33
uncertain significance
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:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.32(chrX:40904-4469489)x3 copy number gain See cases [RCV000052326] ChrX:40904..4469489 [GRCh38]
ChrX:90904..4387530 [GRCh37]
ChrX:30904..4397530 [NCBI36]
ChrX:Xp22.33-22.32
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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(chrX:26102-3730888)x3 copy number gain See cases [RCV000052323] ChrX:26102..3730888 [GRCh38]
ChrX:76102..3648929 [GRCh37]
ChrX:16102..3658929 [NCBI36]
ChrX:Xp22.33
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-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(chrX:2444467-2970550)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052291]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052291]|See cases [RCV000052291] ChrX:2444467..2970550 [GRCh38]
ChrX:2362508..2888591 [GRCh37]
ChrX:2372508..2898591 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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: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 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:26102-8495903)x1 copy number loss See cases [RCV000052991] ChrX:26102..8495903 [GRCh38]
ChrX:76102..8463944 [GRCh37]
ChrX:16102..8423944 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:20140-10259836)x1 copy number loss See cases [RCV000052983] ChrX:20140..10259836 [GRCh38]
ChrX:70140..10227876 [GRCh37]
ChrX:10140..10187876 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-7515914)x0 copy number loss See cases [RCV000052967] ChrX:10679..7515914 [GRCh38]
ChrX:60679..7433955 [GRCh37]
ChrX:679..7443955 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11803947)x1 copy number loss See cases [RCV000052968] ChrX:10679..11803947 [GRCh38]
ChrX:60679..11822066 [GRCh37]
ChrX:679..11731987 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-6495923)x1 copy number loss See cases [RCV000052969] ChrX:10679..6495923 [GRCh38]
ChrX:60679..6413964 [GRCh37]
ChrX:679..6423964 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:2777300-10034145)x1 copy number loss See cases [RCV000053008] ChrX:2777300..10034145 [GRCh38]
ChrX:2695341..10002185 [GRCh37]
ChrX:2705341..9962185 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:2782275-8961059)x0 copy number loss See cases [RCV000053011] ChrX:2782275..8961059 [GRCh38]
ChrX:2700316..8929100 [GRCh37]
ChrX:2710316..8889100 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053818]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053818]|See cases [RCV000053818] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(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: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(chrX:2777300-2877956)x0 copy number loss See cases [RCV000050371] ChrX:2777300..2877956 [GRCh38]
ChrX:2695341..2795997 [GRCh37]
ChrX:2705341..2805997 [NCBI36]
ChrX:Xp22.33
uncertain significance
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 Xp22.33-22.31(chrX:10679-8480277)x3 copy number gain See cases [RCV000053818] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:679..8408318 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-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(chrX:2777300-2877956)x1 copy number loss See cases [RCV000134162] ChrX:2777300..2877956 [GRCh38]
ChrX:2695341..2795997 [GRCh37]
ChrX:2705341..2805997 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.31(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-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-22.31(chrX:10001-6536888)x1 copy number loss See cases [RCV000135304] ChrX:10001..6536888 [GRCh38]
ChrX:17642..6454929 [GRCh37]
ChrX:1..6464929 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:1202712-7928490)x0 copy number loss See cases [RCV000135329] ChrX:1202712..7928490 [GRCh38]
ChrX:1321581..7896531 [GRCh37]
ChrX:1281581..7856531 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-21.1(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(chrX:2790986-2884477)x2 copy number gain See cases [RCV000135047] ChrX:2790986..2884477 [GRCh38]
ChrX:2709027..2802518 [GRCh37]
ChrX:2719027..2812518 [NCBI36]
ChrX:Xp22.33
benign|likely benign|conflicting data from submitters
GRCh38/hg38 Xp22.33(chrX:10679-3758140)x0 copy number loss See cases [RCV000135635] ChrX:10679..3758140 [GRCh38]
ChrX:60679..3676181 [GRCh37]
ChrX:679..3686181 [NCBI36]
ChrX:Xp22.33
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x1 copy number loss See cases [RCV000135756] ChrX:10679..8480277 [GRCh38]
ChrX:60679..8448318 [GRCh37]
ChrX:679..8408318 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33(chrX:2790845-2877956)x1 copy number loss See cases [RCV000135524] ChrX:2790845..2877956 [GRCh38]
ChrX:2708886..2795997 [GRCh37]
ChrX:2718886..2805997 [NCBI36]
ChrX:Xp22.33
uncertain significance
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 Xp22.33-22.31(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(chrX:2751384-3349640)x3 copy number gain See cases [RCV000136535] ChrX:2751384..3349640 [GRCh38]
ChrX:2669425..3267681 [GRCh37]
ChrX:2679425..3277681 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33-22.31(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 Xp22.33-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 Xp22.33-11.22(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(chrX:10679-2777359)x1 copy number loss See cases [RCV000136867] ChrX:10679..2777359 [GRCh38]
ChrX:60679..2695400 [GRCh37]
ChrX:679..2705400 [NCBI36]
ChrX:Xp22.33
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:20140-9459643)x0 copy number loss See cases [RCV000136885] ChrX:20140..9459643 [GRCh38]
ChrX:70140..9427683 [GRCh37]
ChrX:10140..9387683 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:2765636-6317066)x1 copy number loss See cases [RCV000136749] ChrX:2765636..6317066 [GRCh38]
ChrX:2683677..6235107 [GRCh37]
ChrX:2693677..6245107 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33(chrX:2782275-3355873)x2 copy number gain See cases [RCV000137519] ChrX:2782275..3355873 [GRCh38]
ChrX:2700316..3273914 [GRCh37]
ChrX:2710316..3283914 [NCBI36]
ChrX:Xp22.33
likely benign
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1 copy number loss See cases [RCV000137252] ChrX:10679..16187419 [GRCh38]
ChrX:60679..16205542 [GRCh37]
ChrX:679..16115463 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8147112)x1 copy number loss See cases [RCV000137882] ChrX:10701..8147112 [GRCh38]
ChrX:60701..8115153 [GRCh37]
ChrX:701..8075153 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8568401)x0 copy number loss See cases [RCV000137883] ChrX:10701..8568401 [GRCh38]
ChrX:60701..8536442 [GRCh37]
ChrX:701..8496442 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:253124-12931344)x1 copy number loss See cases [RCV000138680] ChrX:253124..12931344 [GRCh38]
ChrX:169791..12949463 [GRCh37]
ChrX:109791..12859384 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33(chrX:2308642-2854046)x3 copy number gain See cases [RCV000138252] ChrX:2308642..2854046 [GRCh38]
ChrX:2226683..2772087 [GRCh37]
ChrX:2236683..2782087 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh38/hg38 Xp22.33(chrX:2782275-2881379)x2 copy number gain See cases [RCV000139246] ChrX:2782275..2881379 [GRCh38]
ChrX:2700316..2799420 [GRCh37]
ChrX:2710316..2809420 [NCBI36]
ChrX:Xp22.33
benign
GRCh38/hg38 Xp22.33(chrX:2782275-2881379)x0 copy number loss See cases [RCV000139247] ChrX:2782275..2881379 [GRCh38]
ChrX:2700316..2799420 [GRCh37]
ChrX:2710316..2809420 [NCBI36]
ChrX:Xp22.33
likely pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33(chrX:1718254-3700497)x0 copy number loss See cases [RCV000138953] ChrX:1718254..3700497 [GRCh38]
ChrX:1837147..3618538 [GRCh37]
ChrX:1797147..3628538 [NCBI36]
ChrX:Xp22.33
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33(chrX:2782037-2881385)x2 copy number gain See cases [RCV000139483] ChrX:2782037..2881385 [GRCh38]
ChrX:2700078..2799426 [GRCh37]
ChrX:2710078..2809426 [NCBI36]
ChrX:Xp22.33
likely 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-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-22.2(chrX:251879-9798930)x1 copy number loss See cases [RCV000141931] ChrX:251879..9798930 [GRCh38]
ChrX:168546..9766970 [GRCh37]
ChrX:108546..9726970 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:251879-6583978)x1 copy number loss See cases [RCV000141660] ChrX:251879..6583978 [GRCh38]
ChrX:168546..6502019 [GRCh37]
ChrX:108546..6512019 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-11.22(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(chrX:1790118-2761052)x3 copy number gain See cases [RCV000142315] ChrX:1790118..2761052 [GRCh38]
ChrX:1909011..2679093 [GRCh37]
ChrX:1869011..2689093 [NCBI36]
ChrX:Xp22.33
likely benign|uncertain significance
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1 copy number loss See cases [RCV000142053] ChrX:251879..16967290 [GRCh38]
ChrX:168546..16985413 [GRCh37]
ChrX:108546..16895334 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:10701-8423970)x1 copy number loss See cases [RCV000143070] ChrX:10701..8423970 [GRCh38]
ChrX:60701..8392011 [GRCh37]
ChrX:701..8352011 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33(chrX:2782037-3306245)x2 copy number gain See cases [RCV000142994] ChrX:2782037..3306245 [GRCh38]
ChrX:2700078..3224286 [GRCh37]
ChrX:2710078..3234286 [NCBI36]
ChrX:Xp22.33
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:2790845-6495923)x0 copy number loss See cases [RCV000142746] ChrX:2790845..6495923 [GRCh38]
ChrX:2708886..6413964 [GRCh37]
ChrX:2718886..6423964 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-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-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.31(chrX:1539767-9473964)x0 copy number loss See cases [RCV000143697] ChrX:1539767..9473964 [GRCh38]
ChrX:1658660..9442004 [GRCh37]
ChrX:1618660..9402004 [NCBI36]
ChrX:Xp22.33-22.31
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33(chrX:2790845-2877956)x0 copy number loss See cases [RCV000148173] ChrX:2790845..2877956 [GRCh38]
ChrX:2708886..2795997 [GRCh37]
ChrX:2718886..2805997 [NCBI36]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33(chrX:2673846-2884527)x1 copy number loss Premature ovarian failure [RCV000225307] ChrX:2673846..2884527 [GRCh38]
ChrX:2591887..2802568 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33(chrX:2576743-2951072)x3 copy number gain See cases [RCV000239940] ChrX:2576743..2951072 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [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(chrX:71267-3248235)x1 copy number loss See cases [RCV000240278] ChrX:71267..3248235 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:71267-12032064)x1 copy number loss See cases [RCV000240338] ChrX:71267..12032064 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33(chrX:2707626-2937367)x2 copy number gain See cases [RCV000446803] ChrX:2707626..2937367 [GRCh37]
ChrX:Xp22.33
uncertain significance
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 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33(chrX:168546-2696762)x3 copy number gain See cases [RCV000446618] ChrX:168546..2696762 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:70297-8654089)x0 copy number loss See cases [RCV000446121] ChrX:70297..8654089 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33(chrX:168546-2674479)x3 copy number gain See cases [RCV000446466] ChrX:168546..2674479 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33(chrX:2707626-2802518)x2 copy number gain See cases [RCV000446262] ChrX:2707626..2802518 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33(chrX:395646-2696692)x3 copy number gain See cases [RCV000446934] ChrX:395646..2696692 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33(chrX:2707626-2802518)x0 copy number loss See cases [RCV000447199] ChrX:2707626..2802518 [GRCh37]
ChrX:Xp22.33
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33(chrX:2233394-3553923)x1 copy number loss See cases [RCV000448895] ChrX:2233394..3553923 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33(chrX:2703632-3085643)x2 copy number gain See cases [RCV000448956] ChrX:2703632..3085643 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33(chrX:168546-2946211)x3 copy number gain See cases [RCV000512044] ChrX:168546..2946211 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.33(chrX:168547-3880686)x0 copy number loss See cases [RCV000511695] ChrX:168547..3880686 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33(chrX:168546-3259868)x0 copy number loss See cases [RCV000511728] ChrX:168546..3259868 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:168546-7721374)x1 copy number loss See cases [RCV000511828] ChrX:168546..7721374 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-22.32(chrX:168546-5896155)x1 copy number loss See cases [RCV000510877] ChrX:168546..5896155 [GRCh37]
ChrX:Xp22.33-22.32
pathogenic
GRCh37/hg19 Xp22.33(chrX:2465155-3008237)x3 copy number gain See cases [RCV000511030] ChrX:2465155..3008237 [GRCh37]
ChrX:Xp22.33
likely benign
GRCh37/hg19 Xp22.33-22.2(chrX:168546-9868031)x0 copy number loss See cases [RCV000510906] ChrX:168546..9868031 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33(chrX:1747811-2687572)x3 copy number gain See cases [RCV000663396] ChrX:1747811..2687572 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33(chrX:61091-2701332)x2 copy number gain not provided [RCV000659219] ChrX:61091..2701332 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-22.31(chrX:168546-7796566)x1 copy number loss not provided [RCV000684180] ChrX:168546..7796566 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1 copy number loss not provided [RCV000684181] ChrX:168546..16404364 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:2051958-8135053)x1 copy number loss not provided [RCV000684231] ChrX:2051958..8135053 [GRCh37]
ChrX:Xp22.33-22.31
uncertain significance
GRCh37/hg19 Xp22.33(chrX:2566001-2842587)x3 copy number gain not provided [RCV000684234] ChrX:2566001..2842587 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-22.32(chrX:2703822-4472534)x1 copy number loss not provided [RCV000684235] ChrX:2703822..4472534 [GRCh37]
ChrX:Xp22.33-22.32
pathogenic
GRCh37/hg19 Xp22.33(chrX:2521511-2709659)x3 copy number gain not provided [RCV000684233] ChrX:2521511..2709659 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33(chrX:2700157-2794461)x1 copy number loss not provided [RCV000753309] ChrX:2700157..2794461 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33(chrX:2700157-3183507)x2 copy number gain not provided [RCV000753311] ChrX:2700157..3183507 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:60262-7807206)x1 copy number loss not provided [RCV000753270] ChrX:60262..7807206 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33(chrX:2568904-2904328)x3 copy number gain not provided [RCV000753308] ChrX:2568904..2904328 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33(chrX:2700157-2811185)x2 copy number gain not provided [RCV000753310] ChrX:2700157..2811185 [GRCh37]
ChrX:Xp22.33
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 Xp22.33(chrX:2703633-2803276)x1 copy number loss not provided [RCV000753313] ChrX:2703633..2803276 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely 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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-22.32(chrX:168546-5723788)x0 copy number loss not provided [RCV001007203] ChrX:168546..5723788 [GRCh37]
ChrX:Xp22.33-22.32
pathogenic
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
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
NM_001141919.1(XG):c.455-3C>T single nucleotide variant not provided [RCV000948509] ChrX:2811333 [GRCh38]
ChrX:2729374 [GRCh37]
ChrX:Xp22.33
benign
NM_001141919.1(XG):c.441T>C (p.Tyr147=) single nucleotide variant not provided [RCV000966811] ChrX:2808207 [GRCh38]
ChrX:2726248 [GRCh37]
ChrX:Xp22.33
benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
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:168546-8503210)x1 copy number loss not provided [RCV001007202] ChrX:168546..8503210 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:60814-6043278)x0 copy number loss See cases [RCV001007410] ChrX:60814..6043278 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:1-9298403) copy number loss not provided [RCV000767649] ChrX:1..9298403 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2 copy number gain not provided [RCV000847649] ChrX:2703632..14129100 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.33(chrX:168546-2696762)x3 copy number gain not provided [RCV000847647] ChrX:168546..2696762 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33(chrX:2468907-3011375)x3 copy number gain not provided [RCV000848891] ChrX:2468907..3011375 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-22.31(chrX:169790-8465951)x1 copy number loss not provided [RCV000848066] ChrX:169790..8465951 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1 copy number loss not provided [RCV001007200] ChrX:168546..17502124 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33(chrX:168546-3265521)x0 copy number loss not provided [RCV001007199] ChrX:168546..3265521 [GRCh37]
ChrX:Xp22.33
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33(chrX:827260-3057917)x3 copy number gain not provided [RCV001007232] ChrX:827260..3057917 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:1-7810731)x2 copy number gain not provided [RCV001007197] ChrX:1..7810731 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33(chrX:2331372-2693332)x3 copy number gain not provided [RCV001007242] ChrX:2331372..2693332 [GRCh37]
ChrX:Xp22.33
likely benign
GRCh37/hg19 Xp22.33-22.31(chrX:168546-6449753)x1 copy number loss not provided [RCV001007201] ChrX:168546..6449753 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33(chrX:2422650-2965166)x3 copy number gain not provided [RCV001258824] ChrX:2422650..2965166 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33(chrX:2428084-3118627)x2 copy number gain not provided [RCV001258827] ChrX:2428084..3118627 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33(chrX:2571744-3605934)x2 copy number gain not provided [RCV001258829] ChrX:2571744..3605934 [GRCh37]
ChrX:Xp22.33
uncertain significance
GRCh37/hg19 Xp22.33(chrX:1922918-2689886)x3 copy number gain not provided [RCV001260022] ChrX:1922918..2689886 [GRCh37]
ChrX:Xp22.33
likely benign
GRCh37/hg19 Xp22.33-22.32(chrX:60000-4857212)x1 copy number loss not provided [RCV001270673] ChrX:60000..4857212 [GRCh37]
ChrX:Xp22.33-22.32
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic

Additional Information

Database Acc Id Source(s)
COSMIC XG COSMIC
Ensembl Genes ENSG00000124343 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000370566 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000411004 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000430005 UniProtKB/TrEMBL
  ENSP00000494087 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000381174 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000419513 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000509484 UniProtKB/TrEMBL
  ENST00000644266 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000124343 GTEx
HGNC ID HGNC:12806 ENTREZGENE
Human Proteome Map XG Human Proteome Map
InterPro CD99L2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7499 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7499 ENTREZGENE
OMIM 300879 OMIM
  314700 OMIM
PANTHER PTHR15076 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CD99L2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37405 PharmGKB
UniProt A0A2U3U020_HUMAN UniProtKB/TrEMBL
  B4E289 ENTREZGENE, UniProtKB/TrEMBL
  E5RH28_HUMAN UniProtKB/TrEMBL
  P55808 ENTREZGENE
  Q496P1_HUMAN UniProtKB/TrEMBL
  XG_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary E9PCH1 UniProtKB/Swiss-Prot
  Q496N8 UniProtKB/Swiss-Prot
  Q496N9 UniProtKB/Swiss-Prot
  Q496P0 UniProtKB/Swiss-Prot
  Q71BZ5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 XG  Xg glycoprotein (Xg blood group)  XG  Xg blood group  Symbol and/or name change 5135510 APPROVED