PUDP (pseudouridine 5'-phosphatase) - Rat Genome Database

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Gene: PUDP (pseudouridine 5'-phosphatase) Homo sapiens
Analyze
Symbol: PUDP
Name: pseudouridine 5'-phosphatase
RGD ID: 1344399
HGNC Page HGNC
Description: Predicted to have phosphatase activity. Predicted to be involved in pyrimidine nucleoside salvage. Predicted to localize to cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 5'-PsiMPase; DXF68S1E; FAM16AX; family with sequence similarity 16, member A, X-linked; GS1; haloacid dehalogenase-like hydrolase domain containing 1; haloacid dehalogenase-like hydrolase domain containing 1A; haloacid dehalogenase-like hydrolase domain-containing protein 1; haloacid dehalogenase-like hydrolase domain-containing protein 1A; HDHD1; HDHD1A; pseudouridine-5'-monophosphatase; pseudouridine-5'-phosphatase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: PUDPP1   PUDPP2   PUDPP3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX6,667,865 - 7,148,158 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX6,667,865 - 7,148,190 (-)EnsemblGRCh38hg38GRCh38
GRCh38X6,768,840 - 7,148,153 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X6,966,961 - 7,066,194 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X6,976,961 - 7,076,189 (-)NCBINCBI36hg18NCBI36
Build 34X6,826,696 - 6,925,925NCBI
CeleraX11,193,070 - 11,292,376 (-)NCBI
Cytogenetic MapXp22.31NCBI
HuRefX4,825,043 - 4,923,833 (-)NCBIHuRef
CHM1_1X6,998,027 - 7,097,291 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytosol  (TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1284467   PMID:1734713   PMID:8125298   PMID:9055824   PMID:11337467   PMID:12477932   PMID:14744259   PMID:15489334   PMID:16344560   PMID:20722631   PMID:21873635   PMID:22658674  
PMID:23376485   PMID:26344197   PMID:32296183  


Genomics

Comparative Map Data
PUDP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX6,667,865 - 7,148,158 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX6,667,865 - 7,148,190 (-)EnsemblGRCh38hg38GRCh38
GRCh38X6,768,840 - 7,148,153 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X6,966,961 - 7,066,194 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X6,976,961 - 7,076,189 (-)NCBINCBI36hg18NCBI36
Build 34X6,826,696 - 6,925,925NCBI
CeleraX11,193,070 - 11,292,376 (-)NCBI
Cytogenetic MapXp22.31NCBI
HuRefX4,825,043 - 4,923,833 (-)NCBIHuRef
CHM1_1X6,998,027 - 7,097,291 (-)NCBICHM1_1
Pudp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391850,700,727 - 50,701,770 (-)NCBIGRCm39mm39
GRCm39 Ensembl1850,696,948 - 50,734,491 (-)Ensembl
GRCm381850,567,656 - 50,568,699 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1850,563,877 - 50,601,419 (-)EnsemblGRCm38mm10GRCm38
MGSCv371850,727,310 - 50,728,353 (-)NCBIGRCm37mm9NCBIm37
MGSCv361850,692,841 - 50,693,861 (-)NCBImm8
Celera1851,898,816 - 51,899,859 (-)NCBICelera
Cytogenetic Map18D1NCBI
Pudp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21843,878,363 - 43,880,806 (-)NCBI
Rnor_6.0 Ensembl1845,379,707 - 45,380,730 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01845,378,357 - 45,380,797 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01844,598,778 - 44,601,117 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41845,741,982 - 45,743,005 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11845,779,826 - 45,780,531 (-)NCBI
Celera1842,088,397 - 42,089,420 (-)NCBICelera
Cytogenetic Map18q11NCBI
Pudp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554995,111,615 - 5,181,645 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554995,110,297 - 5,181,487 (-)NCBIChiLan1.0ChiLan1.0
PUDP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X6,908,021 - 6,965,025 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX6,909,397 - 6,964,359 (-)Ensemblpanpan1.1panPan2
PUDP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X4,185,144 - 4,325,866 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX4,247,982 - 4,325,870 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX4,150,457 - 4,281,638 (-)NCBI
ROS_Cfam_1.0X4,130,143 - 4,263,514 (-)NCBI
UMICH_Zoey_3.1X4,128,167 - 4,261,408 (-)NCBI
UNSW_CanFamBas_1.0X4,159,884 - 4,294,154 (-)NCBI
UU_Cfam_GSD_1.0X4,160,572 - 4,292,305 (-)NCBI
LOC101955811
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049532,916,322 - 2,971,809 (-)NCBI
SpeTri2.0NW_0049366441,427,003 - 1,460,421 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PUDP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X3,577,487 - 3,876,142 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1Y2,681,502 - 2,701,629 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X3,964,750 - 4,053,532 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103231565
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X5,209,256 - 5,603,342 (-)NCBI
ChlSab1.1 EnsemblX5,490,918 - 5,602,382 (-)Ensembl
Pudp
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248344,742,359 - 4,806,432 (-)NCBI

Position Markers
D1S1163  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X6,968,144 - 6,968,510UniSTSGRCh37
CeleraX11,194,253 - 11,194,619UniSTS
Cytogenetic MapXp22.32UniSTS
HuRefX4,826,222 - 4,826,588UniSTS
Marshfield Genetic Map1129.37RGD
deCODE Assembly Map1119.32UniSTS
RH68074  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X6,967,060 - 6,967,140UniSTSGRCh37
Build 36X6,977,060 - 6,977,140RGDNCBI36
CeleraX11,193,169 - 11,193,249RGD
Cytogenetic MapXp22.32UniSTS
HuRefX4,825,142 - 4,825,222UniSTS
GeneMap99-GB4 RH MapX80.62UniSTS
NCBI RH MapX10.0UniSTS
G62133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X6,967,138 - 6,967,264UniSTSGRCh37
Build 36X6,977,138 - 6,977,264RGDNCBI36
CeleraX11,193,247 - 11,193,373RGD
Cytogenetic MapXp22.32UniSTS
HuRefX4,825,220 - 4,825,346UniSTS
DXS7967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X6,968,337 - 6,968,505UniSTSGRCh37
Build 36X6,978,337 - 6,978,505RGDNCBI36
CeleraX11,194,446 - 11,194,614RGD
Cytogenetic MapXp22.32UniSTS
HuRefX4,826,415 - 4,826,583UniSTS
DXS9742  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X6,967,968 - 6,968,132UniSTSGRCh37
Build 36X6,977,968 - 6,978,132RGDNCBI36
CeleraX11,194,077 - 11,194,241RGD
Cytogenetic MapXp22.32UniSTS
HuRefX4,826,046 - 4,826,210UniSTS
STS-H73061  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X6,980,972 - 6,981,126UniSTSGRCh37
Build 36X6,990,972 - 6,991,126RGDNCBI36
CeleraX11,207,080 - 11,207,234RGD
Cytogenetic MapXp22.32UniSTS
HuRefX4,839,049 - 4,839,203UniSTS
GeneMap99-GB4 RH MapX80.62UniSTS
NCBI RH MapX10.0UniSTS
RH1709  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X6,968,059 - 6,968,268UniSTSGRCh37
Build 36X6,978,059 - 6,978,268RGDNCBI36
CeleraX11,194,168 - 11,194,377RGD
Cytogenetic MapXp22.32UniSTS
HuRefX4,826,137 - 4,826,346UniSTS
GeneMap99-GB4 RH MapX80.62UniSTS
HDHD1A  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,023,712 - 7,023,871UniSTSGRCh37
CeleraX11,249,849 - 11,250,008UniSTS
HuRefX4,881,468 - 4,881,627UniSTS
GDB:187813  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.32UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2230
Count of miRNA genes:876
Interacting mature miRNAs:980
Transcripts:ENST00000381077, ENST00000412827, ENST00000424830, ENST00000486446, ENST00000498474, ENST00000540122
Prediction methods: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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 632 300 327 132 910 109 1137 794 438 283 486 668 41 1 55 833 6
Low 1792 2647 1398 491 1000 355 3217 1394 3296 134 972 944 134 1149 1954 2
Below cutoff 4 44 1 1 37 1 2 9 1 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001178136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA262524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC097347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC130893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC132156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300740 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU099056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU141098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE019082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG419948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX322573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA653367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC388394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR156836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M86934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000381077   ⟹   ENSP00000370467
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX7,048,920 - 7,148,153 (-)Ensembl
RefSeq Acc Id: ENST00000412827   ⟹   ENSP00000406260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX7,049,518 - 7,148,153 (-)Ensembl
RefSeq Acc Id: ENST00000424830   ⟹   ENSP00000396452
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX7,049,763 - 7,148,158 (-)Ensembl
RefSeq Acc Id: ENST00000438499
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX6,667,865 - 6,721,544 (-)Ensembl
RefSeq Acc Id: ENST00000486446   ⟹   ENSP00000430995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX7,057,707 - 7,148,125 (-)Ensembl
RefSeq Acc Id: ENST00000498474
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX7,084,751 - 7,148,152 (-)Ensembl
RefSeq Acc Id: ENST00000655425   ⟹   ENSP00000499460
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX6,706,343 - 7,077,423 (-)Ensembl
RefSeq Acc Id: NM_001135565   ⟹   NP_001129037
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,048,920 - 7,148,153 (-)NCBI
GRCh37X6,966,961 - 7,066,231 (-)RGD
CeleraX11,193,070 - 11,292,376 (-)RGD
HuRefX4,825,043 - 4,923,833 (-)NCBI
CHM1_1X6,998,027 - 7,097,291 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001178135   ⟹   NP_001171606
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,057,586 - 7,148,153 (-)NCBI
GRCh37X6,966,961 - 7,066,231 (-)RGD
CeleraX11,193,070 - 11,292,376 (-)RGD
HuRefX4,825,043 - 4,923,833 (-)NCBI
CHM1_1X7,006,693 - 7,097,291 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001178136   ⟹   NP_001171607
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,048,920 - 7,148,153 (-)NCBI
GRCh37X6,966,961 - 7,066,231 (-)RGD
CeleraX11,193,070 - 11,292,376 (-)RGD
HuRefX4,825,043 - 4,923,833 (-)NCBI
CHM1_1X6,998,027 - 7,097,291 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012080   ⟹   NP_036212
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,048,920 - 7,148,153 (-)NCBI
GRCh37X6,966,961 - 7,066,231 (-)RGD
Build 36X6,976,961 - 7,076,189 (-)NCBI Archive
CeleraX11,193,070 - 11,292,376 (-)RGD
HuRefX4,825,043 - 4,923,833 (-)NCBI
CHM1_1X6,998,027 - 7,097,291 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001755734
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X6,768,840 - 7,148,152 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001129037   ⟸   NM_001135565
- Peptide Label: isoform a
- UniProtKB: Q08623 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_036212   ⟸   NM_012080
- Peptide Label: isoform b
- UniProtKB: Q08623 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171607   ⟸   NM_001178136
- Peptide Label: isoform d
- UniProtKB: Q08623 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001171606   ⟸   NM_001178135
- Peptide Label: isoform c
- UniProtKB: Q08623 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000396452   ⟸   ENST00000424830
RefSeq Acc Id: ENSP00000406260   ⟸   ENST00000412827
RefSeq Acc Id: ENSP00000499460   ⟸   ENST00000655425
RefSeq Acc Id: ENSP00000430995   ⟸   ENST00000486446
RefSeq Acc Id: ENSP00000370467   ⟸   ENST00000381077

Promoters
RGD ID:6808922
Promoter ID:HG_KWN:65921
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001135565,   NM_001178135,   NM_001178136,   NM_012080,   OTTHUMT00000055684,   UC010NDL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X7,076,079 - 7,076,579 (-)MPROMDB
RGD ID:13604672
Promoter ID:EPDNEW_H28520
Type:initiation region
Name:PUDP_1
Description:pseudouridine 5'-phosphatase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,148,136 - 7,148,196EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical 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 Xp22.31(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:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-11240163)x1 copy number loss See cases [RCV000051034] ChrX:10679..11240163 [GRCh38]
ChrX:60679..11258283 [GRCh37]
ChrX:679..11168204 [NCBI36]
ChrX:Xp22.33-22.2
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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 Xp22.31(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-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(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-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(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 Xp22.32-22.2(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 Xp22.33-11.1(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 Xp22.33-22.2(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 Xp22.31(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 Xp22.33-11.21(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:6534166-8168680)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
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:6962965-7745286)x0 copy number loss See cases [RCV000515604] ChrX:6962965..7745286 [GRCh37]
ChrX:Xp22.31
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
GRCh37/hg19 Xp22.31(chrX:6179830-8605251)x2 copy number gain See cases [RCV000515607] ChrX:6179830..8605251 [GRCh37]
ChrX:Xp22.31
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31(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 Xp22.33-11.22(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-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31(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 Xp22.33-22.31(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)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 Xp22.31(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 Xp22.33-11.21(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-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-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 Xp22.33-22.2(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-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 Xp22.33-22.31(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: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-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 Xp22.31(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
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 Xp22.33-11.1(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 Xp22.31(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 Xp22.31(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 Xp22.33-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: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 Xp22.33-11.4(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: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 Xp22.31(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: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 Xp22.33-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: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 Xp22.31(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 Xp22.33-21.1(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)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 Xp22.31(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
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 Xp22.31(chrX:6776818-7119738)x3 copy number gain See cases [RCV000203418] ChrX:6776818..7119738 [GRCh37]
ChrX:Xp22.31
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 Xp22.31(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:6430651-8034993)x1 copy number loss See cases [RCV000515581] ChrX:6430651..8034993 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:6832908-6906043)x1 copy number loss See cases [RCV000053054] ChrX:6832908..6906043 [GRCh38]
ChrX:6750949..6824084 [GRCh37]
ChrX:6760949..6834084 [NCBI36]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:6837101-6900626)x1 copy number loss See cases [RCV000134557] ChrX:6837101..6900626 [GRCh38]
ChrX:6755142..6818667 [GRCh37]
ChrX:6765142..6828667 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6837101-6900626)x0 copy number loss See cases [RCV000134558] ChrX:6837101..6900626 [GRCh38]
ChrX:6755142..6818667 [GRCh37]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6535231-7021831)x2 copy number gain See cases [RCV000134631] ChrX:6535231..7021831 [GRCh38]
ChrX:6453272..6939872 [GRCh37]
ChrX:6463272..6949872 [NCBI36]
ChrX:Xp22.31
benign
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 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.31(chrX:6134766-7023927)x3 copy number gain See cases [RCV000239903] ChrX:6134766..7023927 [GRCh37]
ChrX:Xp22.31
uncertain significance
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 Xp22.33-11.3(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-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [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 Xp22.33-11.21(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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
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: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 Xp22.33-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:6455151-8135644)x1 copy number loss See cases [RCV000447621] ChrX:6455151..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [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 Xp22.31(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:6604013-6980976)x0 copy number loss See cases [RCV000448698] ChrX:6604013..6980976 [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 Xp22.31(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 Xp22.33-22.31(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
GRCh37/hg19 Xp22.31(chrX:6604013-6979765)x0 copy number loss See cases [RCV000447914] ChrX:6604013..6979765 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.31(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
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:6455151-7123188)x2 copy number gain See cases [RCV000448439] ChrX:6455151..7123188 [GRCh37]
ChrX:Xp22.31
likely benign
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: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:6488721-8097511) copy number loss Autistic disorder of childhood onset [RCV000626552] ChrX:6488721..8097511 [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 Xp22.33-11.21(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 Xp22.33-22.31(chrX:168546-7796566)x1 copy number loss not provided [RCV000684180] ChrX:168546..7796566 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-11.23(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 Xp22.33-22.31(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: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:6598868-7966755)x1 copy number loss not provided [RCV000684251] ChrX:6598868..7966755 [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:6631977-8135644)x3 copy number gain not provided [RCV000684253] ChrX:6631977..8135644 [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 Xp22.33-22.11(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:6709092-8135053)x0 copy number loss not provided [RCV000684254] ChrX:6709092..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
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 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
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:7039463-7249352)x2 copy number gain not provided [RCV000684258] ChrX:7039463..7249352 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
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:6449601-8135053)x1 copy number loss not provided [RCV000753334] ChrX:6449601..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:6454813-8139581)x2 copy number gain not provided [RCV000753342] ChrX:6454813..8139581 [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: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:6451799-8135053)x0 copy number loss not provided [RCV000753335] ChrX:6451799..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0 copy number loss not provided [RCV000753346] ChrX:6456940..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:60262-7807206)x1 copy number loss not provided [RCV000753270] ChrX:60262..7807206 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:2700157-9866420)x3 copy number gain not provided [RCV000753312] ChrX:2700157..9866420 [GRCh37]
ChrX:Xp22.33-22.2
pathogenic
GRCh37/hg19 Xp22.33-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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [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
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: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
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.31(chrX:6896604-7887498)x1 copy number loss not provided [RCV001007247] ChrX:6896604..7887498 [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
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
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 Xp22.33-22.31(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 Xp22.31(chrX:6497085-7910475) copy number loss X-linked ichthyosis with steryl-sulfatase deficiency [RCV000767691] ChrX:6497085..7910475 [GRCh37]
ChrX:Xp22.31
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 Xp22.31(chrX:6451799-8141017)x1 copy number loss See cases [RCV000790571] ChrX:6451799..8141017 [GRCh37]
ChrX:Xp22.31
pathogenic
NC_000023.11:g.(?_7050296)_(7350261_?)del deletion not provided [RCV000817290] ChrX:7050296..7350261 [GRCh38]
ChrX:6968337..7268302 [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 Xp22.31(chrX:6596639-8135053)x3 copy number gain See cases [RCV000790594] ChrX:6596639..8135053 [GRCh37]
ChrX:Xp22.31
likely pathogenic
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 Xp22.33-22.31(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:6449836-8135645)x1 copy number loss not provided [RCV000846489] ChrX:6449836..8135645 [GRCh37]
ChrX:Xp22.31
pathogenic
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 Xp22.33-22.31(chrX:169790-8465951)x1 copy number loss not provided [RCV000848066] ChrX:169790..8465951 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.31(chrX:6784328-8071202)x0 copy number loss not provided [RCV001007246] ChrX:6784328..8071202 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-22.13(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:6456940-8135053)x0 copy number loss See cases [RCV001007444] ChrX:6456940..8135053 [GRCh37]
ChrX:Xp22.31
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 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.31(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)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.31(chrX:6696273-7399447)x2 copy number gain not provided [RCV001007245] ChrX:6696273..7399447 [GRCh37]
ChrX:Xp22.31
uncertain significance
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:6450700-8138035)x2 copy number gain See cases [RCV001194517] ChrX:6450700..8138035 [GRCh37]
ChrX:Xp22.31
likely pathogenic
Single allele deletion Dystonia [RCV001004040] ChrX:6453783..8133115 [GRCh37]
ChrX:Xp22.31
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 Xp22.31(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:7000688-7241455)x2 copy number gain not provided [RCV001260018] ChrX:7000688..7241455 [GRCh37]
ChrX:Xp22.31
uncertain significance
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)
AGR Gene HGNC:16818 AgrOrtholog
COSMIC PUDP COSMIC
Ensembl Genes ENSG00000130021 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000370467 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000396452 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000406260 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430995 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000499460 UniProtKB/TrEMBL
Ensembl Transcript ENST00000381077 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000412827 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000424830 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000486446 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000655425 UniProtKB/TrEMBL
Gene3D-CATH 1.10.150.240 UniProtKB/Swiss-Prot
  3.40.50.1000 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000130021 GTEx
HGNC ID HGNC:16818 ENTREZGENE
Human Proteome Map PUDP Human Proteome Map
InterPro HAD-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HAD-SF_hydro_IA UniProtKB/Swiss-Prot
  HAD_2 UniProtKB/Swiss-Prot
  HAD_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PGP-like_dom2 UniProtKB/Swiss-Prot
KEGG Report hsa:8226 UniProtKB/Swiss-Prot
NCBI Gene 8226 ENTREZGENE
OMIM 306480 OMIM
Pfam HAD_2 UniProtKB/Swiss-Prot
PharmGKB PA165756731 PharmGKB
Superfamily-SCOP SSF56784 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs HAD-SF-IA-v3 UniProtKB/Swiss-Prot
UniProt A0A590UJH7_HUMAN UniProtKB/TrEMBL
  HDHD1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary B2R7X6 UniProtKB/Swiss-Prot
  B4DV93 UniProtKB/Swiss-Prot
  B7Z6Q3 UniProtKB/Swiss-Prot
  E9PAV8 UniProtKB/Swiss-Prot
  F5GWZ2 UniProtKB/Swiss-Prot
  Q53F84 UniProtKB/Swiss-Prot
  Q96EB8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-08-18 PUDP  pseudouridine 5'-phosphatase  HDHD1  haloacid dehalogenase-like hydrolase domain containing 1  Symbol and/or name change 5135510 APPROVED
2011-07-27 HDHD1  haloacid dehalogenase-like hydrolase domain containing 1  HDHD1A  haloacid dehalogenase-like hydrolase domain containing 1A  Symbol and/or name change 5135510 APPROVED