PNPLA4 (patatin like phospholipase domain containing 4) - Rat Genome Database

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Gene: PNPLA4 (patatin like phospholipase domain containing 4) Homo sapiens
Analyze
Symbol: PNPLA4
Name: patatin like phospholipase domain containing 4
RGD ID: 1346226
HGNC Page HGNC
Description: Exhibits retinyl-palmitate esterase activity and triglyceride lipase activity. Predicted to be involved in lipid homeostasis and triglyceride catabolic process. Localizes to mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: calcium independent phospholipases A2 eta; DXS1283E; GS2; IPLA2 eta; IPLA2-ETA; iPLA2eta; patatin-like phospholipase domain containing 4; patatin-like phospholipase domain-containing protein 4
RGD Orthologs
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100379236   PNPLA4P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX7,898,247 - 7,927,739 (-)EnsemblGRCh38hg38GRCh38
GRCh38X7,898,247 - 7,928,587 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X7,866,288 - 7,895,765 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X7,826,804 - 7,855,443 (-)NCBINCBI36hg18NCBI36
Build 34X7,676,539 - 7,705,179NCBI
CeleraX12,042,080 - 12,071,056 (-)NCBI
Cytogenetic MapXp22.31NCBI
HuRefX5,673,993 - 5,702,740 (-)NCBIHuRef
CHM1_1X7,847,349 - 7,876,320 (-)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
cytoplasm  (IBA)
cytosol  (TAS)
lipid droplet  (IBA)
membrane  (IBA)
mitochondrion  (IDA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:7806223   PMID:15364929   PMID:15489334   PMID:15955102   PMID:16341674   PMID:16741517   PMID:16799181   PMID:17603008   PMID:18029348   PMID:19029121   PMID:19181555   PMID:19390624  
PMID:19490893   PMID:21873635   PMID:24104479   PMID:26186194   PMID:26741492   PMID:27317427   PMID:28514442  


Genomics

Comparative Map Data
PNPLA4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX7,898,247 - 7,927,739 (-)EnsemblGRCh38hg38GRCh38
GRCh38X7,898,247 - 7,928,587 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X7,866,288 - 7,895,765 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X7,826,804 - 7,855,443 (-)NCBINCBI36hg18NCBI36
Build 34X7,676,539 - 7,705,179NCBI
CeleraX12,042,080 - 12,071,056 (-)NCBI
Cytogenetic MapXp22.31NCBI
HuRefX5,673,993 - 5,702,740 (-)NCBIHuRef
CHM1_1X7,847,349 - 7,876,320 (-)NCBICHM1_1
Pnpla4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X42,313,554 - 42,318,451 (-)NCBI
Rnor_6.0 EnsemblX45,519,228 - 45,522,665 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X45,519,406 - 45,522,988 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X45,741,175 - 45,745,283 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X64,018,764 - 64,023,189 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX42,961,904 - 42,965,486 (-)NCBICelera
Cytogenetic MapXq21NCBI
Pnpla4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554995,892,761 - 5,924,736 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554995,875,706 - 5,925,809 (-)NCBIChiLan1.0ChiLan1.0
PNPLA4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X7,756,047 - 7,786,124 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX7,756,047 - 7,786,634 (-)Ensemblpanpan1.1panPan2
PNPLA4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X4,775,702 - 4,925,027 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX4,874,240 - 4,924,976 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX4,772,912 - 4,880,400 (-)NCBI
ROS_Cfam_1.0X4,756,066 - 4,863,806 (-)NCBI
UMICH_Zoey_3.1X4,754,281 - 4,861,779 (-)NCBI
UNSW_CanFamBas_1.0X4,785,776 - 4,893,459 (-)NCBI
UU_Cfam_GSD_1.0X4,784,271 - 4,891,905 (-)NCBI
Pnpla4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049533,230,352 - 3,284,962 (-)NCBI
SpeTri2.0NW_0049366441,091,794 - 1,113,621 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PNPLA4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X4,540,846 - 4,623,831 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1Y3,287,635 - 3,369,286 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X4,745,808 - 4,825,065 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PNPLA4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X6,247,971 - 6,396,168 (-)NCBI
ChlSab1.1 EnsemblX6,363,541 - 6,394,704 (-)Ensembl
Vero_WHO_p1.0NW_0236660567,931,592 - 8,003,191 (-)NCBI
Pnpla4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248345,497,109 - 5,529,912 (-)NCBI

Position Markers
STS-U03886  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,866,837 - 7,867,071UniSTSGRCh37
Build 36X7,826,837 - 7,827,071RGDNCBI36
CeleraX12,042,113 - 12,042,347RGD
Cytogenetic MapXp22.3UniSTS
HuRefX5,674,026 - 5,674,260UniSTS
GeneMap99-GB4 RH MapX80.62UniSTS
NCBI RH MapX10.0UniSTS
DXS9745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,868,356 - 7,868,500UniSTSGRCh37
Build 36X7,828,356 - 7,828,500RGDNCBI36
CeleraX12,043,632 - 12,043,776RGD
Cytogenetic MapXp22.3UniSTS
HuRefX5,675,547 - 5,675,691UniSTS
GeneMap99-G3 RH MapX894.0UniSTS
DXS1283E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,867,607 - 7,867,755UniSTSGRCh37
GRCh37X7,868,446 - 7,870,048UniSTSGRCh37
Build 36X7,827,607 - 7,827,755RGDNCBI36
CeleraX12,042,883 - 12,043,031RGD
CeleraX12,043,722 - 12,045,324UniSTS
Cytogenetic MapXp22.3UniSTS
HuRefX5,674,796 - 5,674,946UniSTS
G15963  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X7,867,521 - 7,867,762UniSTSGRCh37
Build 36X7,827,521 - 7,827,762RGDNCBI36
CeleraX12,042,797 - 12,043,038RGD
Cytogenetic MapXp22.3UniSTS
HuRefX5,674,710 - 5,674,953UniSTS
DXS1283E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXp22.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3040
Count of miRNA genes:935
Interacting mature miRNAs:1121
Transcripts:ENST00000381042, ENST00000442940, ENST00000444736, ENST00000537427
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 317 238 1014 178 357 146 1251 613 958 283 570 762 41 94 757
Low 2115 2664 709 444 1478 317 3101 1549 2736 130 882 822 133 1 1110 2031 5 2
Below cutoff 1 89 3 2 97 2 2 29 28 3 3 20

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000381042   ⟹   ENSP00000370430
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX7,898,247 - 7,927,413 (-)Ensembl
RefSeq Acc Id: ENST00000442940   ⟹   ENSP00000406698
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX7,902,049 - 7,927,739 (-)Ensembl
RefSeq Acc Id: ENST00000444736   ⟹   ENSP00000415245
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX7,898,763 - 7,927,739 (-)Ensembl
RefSeq Acc Id: ENST00000537427   ⟹   ENSP00000443157
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX7,898,763 - 7,927,739 (-)Ensembl
RefSeq Acc Id: NM_001142389   ⟹   NP_001135861
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,898,247 - 7,927,724 (-)NCBI
GRCh37X7,866,804 - 7,895,780 (-)RGD
CeleraX12,042,080 - 12,071,056 (-)RGD
HuRefX5,673,993 - 5,702,740 (-)RGD
CHM1_1X7,847,349 - 7,876,320 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001172672   ⟹   NP_001166143
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,898,247 - 7,927,724 (-)NCBI
GRCh37X7,866,804 - 7,895,780 (-)RGD
CeleraX12,042,080 - 12,071,056 (-)RGD
HuRefX5,673,993 - 5,702,740 (-)RGD
CHM1_1X7,847,349 - 7,876,320 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004650   ⟹   NP_004641
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,898,247 - 7,927,413 (-)NCBI
GRCh37X7,866,804 - 7,895,780 (-)RGD
Build 36X7,826,804 - 7,855,443 (-)NCBI Archive
CeleraX12,042,080 - 12,071,056 (-)RGD
HuRefX5,673,993 - 5,702,740 (-)RGD
CHM1_1X7,847,349 - 7,876,015 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545588   ⟹   XP_011543890
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X7,898,862 - 7,928,587 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001135861   ⟸   NM_001142389
- Peptide Label: isoform 1 precursor
- UniProtKB: P41247 (UniProtKB/Swiss-Prot),   A0A024RBU8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001166143   ⟸   NM_001172672
- Peptide Label: isoform 2
- UniProtKB: P41247 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004641   ⟸   NM_004650
- Peptide Label: isoform 1 precursor
- UniProtKB: P41247 (UniProtKB/Swiss-Prot),   A0A024RBU8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543890   ⟸   XM_011545588
- Peptide Label: isoform X1
- UniProtKB: P41247 (UniProtKB/Swiss-Prot),   A0A024RBU8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000406698   ⟸   ENST00000442940
RefSeq Acc Id: ENSP00000415245   ⟸   ENST00000444736
RefSeq Acc Id: ENSP00000443157   ⟸   ENST00000537427
RefSeq Acc Id: ENSP00000370430   ⟸   ENST00000381042
Protein Domains
PNPLA

Promoters
RGD ID:6814833
Promoter ID:HG_XEF:8505
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_001080363,   NM_001095366,   NM_001130740,   NM_001160082
Position:
Human AssemblyChrPosition (strand)Source
Build 36X7,854,366 - 7,854,866 (-)MPROMDB
RGD ID:6809140
Promoter ID:HG_KWN:65926
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_001142389,   NM_001172672,   OTTHUMT00000055687,   OTTHUMT00000055688,   UC004CSA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X7,855,431 - 7,856,667 (-)MPROMDB
RGD ID:13604680
Promoter ID:EPDNEW_H28524
Type:initiation region
Name:PNPLA4_1
Description:patatin like phospholipase domain containing 4
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
GRCh38X7,927,413 - 7,927,473EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004650.2(PNPLA4):c.180+203A>C single nucleotide variant Lung cancer [RCV000102786] ChrX:7925737 [GRCh38]
ChrX:7893778 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31(chrX:6570680-8082609)x2 copy number gain See cases [RCV000050803] ChrX:6570680..8082609 [GRCh38]
ChrX:6488721..8050650 [GRCh37]
ChrX:6498721..8010650 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.31(chrX:7917055-8588267)x3 copy number gain See cases [RCV000051052] ChrX:7917055..8588267 [GRCh38]
ChrX:7885096..8556308 [GRCh37]
ChrX:7845096..8516308 [NCBI36]
ChrX:Xp22.31
uncertain significance
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 Xp22.33-22.2(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 Xp22.33-11.22(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 Xp22.31(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 Xp22.33-11.21(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
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 Xp22.31(chrX:7614505-8129470)x2 copy number gain See cases [RCV000133866] ChrX:7614505..8129470 [GRCh38]
ChrX:7532546..8097511 [GRCh37]
ChrX:7542546..8057511 [NCBI36]
ChrX:Xp22.31
benign
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 Xp22.33-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 Xp22.31(chrX:7860124-8129411)x2 copy number gain See cases [RCV000134632] ChrX:7860124..8129411 [GRCh38]
ChrX:7828165..8097452 [GRCh37]
ChrX:7788165..8057452 [NCBI36]
ChrX:Xp22.31
benign
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 Xp22.31(chrX:7411158-8037085)x3 copy number gain See cases [RCV000134835] ChrX:7411158..8037085 [GRCh38]
ChrX:7329199..8005126 [GRCh37]
ChrX:7339199..7965126 [NCBI36]
ChrX:Xp22.31
likely benign
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:7860124-8423970)x3 copy number gain See cases [RCV000135721] ChrX:7860124..8423970 [GRCh38]
ChrX:7828165..8392011 [GRCh37]
ChrX:7788165..8352011 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.31(chrX:7860124-8423970)x2 copy number gain See cases [RCV000135722] ChrX:7860124..8423970 [GRCh38]
ChrX:7828165..8392011 [GRCh37]
ChrX:7788165..8352011 [NCBI36]
ChrX:Xp22.31
uncertain significance
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 Xp22.31(chrX:7666592-8706315)x3 copy number gain See cases [RCV000136551] ChrX:7666592..8706315 [GRCh38]
ChrX:7584633..8674356 [GRCh37]
ChrX:7594633..8634356 [NCBI36]
ChrX:Xp22.31
uncertain significance
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 Xp22.31(chrX:7711067-7992077)x3 copy number gain See cases [RCV000136974] ChrX:7711067..7992077 [GRCh38]
ChrX:7679108..7960118 [GRCh37]
ChrX:7639108..7920118 [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: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 Xp22.31(chrX:7860124-8463747)x2 copy number gain See cases [RCV000137873] ChrX:7860124..8463747 [GRCh38]
ChrX:7828165..8431788 [GRCh37]
ChrX:7788165..8391788 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.31(chrX:7860124-8463747)x0 copy number loss See cases [RCV000137874] ChrX:7860124..8463747 [GRCh38]
ChrX:7828165..8431788 [GRCh37]
ChrX:7788165..8391788 [NCBI36]
ChrX:Xp22.31
uncertain significance
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 Xp22.33-11.1(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:7916991-8129470)x2 copy number gain See cases [RCV000138933] ChrX:7916991..8129470 [GRCh38]
ChrX:7885032..8097511 [GRCh37]
ChrX:7845032..8057511 [NCBI36]
ChrX:Xp22.31
likely benign
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:7642683-8129411)x2 copy number gain See cases [RCV000140546] ChrX:7642683..8129411 [GRCh38]
ChrX:7560724..8097452 [GRCh37]
ChrX:7570724..8057452 [NCBI36]
ChrX:Xp22.31
likely benign
GRCh38/hg38 Xp22.31(chrX:6531647-8147053)x2 copy number gain See cases [RCV000140231] ChrX:6531647..8147053 [GRCh38]
ChrX:6449688..8115094 [GRCh37]
ChrX:6459688..8075094 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6531647-8147053)x3 copy number gain See cases [RCV000140233] ChrX:6531647..8147053 [GRCh38]
ChrX:6449688..8115094 [GRCh37]
ChrX:Xp22.31
likely benign
GRCh38/hg38 Xp22.31(chrX:6536171-8147053)x2 copy number gain See cases [RCV000140474] ChrX:6536171..8147053 [GRCh38]
ChrX:6454212..8115094 [GRCh37]
ChrX:6464212..8075094 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:6536171-8147053)x1 copy number loss See cases [RCV000140475] ChrX:6536171..8147053 [GRCh38]
ChrX:6454212..8115094 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh38/hg38 Xp22.31(chrX:7614505-8147053)x2 copy number gain See cases [RCV000140496] ChrX:7614505..8147053 [GRCh38]
ChrX:7532546..8115094 [GRCh37]
ChrX:7542546..8075094 [NCBI36]
ChrX:Xp22.31
benign
GRCh38/hg38 Xp22.31(chrX:7710844-8129470)x3 copy number gain See cases [RCV000139530] ChrX:7710844..8129470 [GRCh38]
ChrX:7678885..8097511 [GRCh37]
ChrX:7638885..8057511 [NCBI36]
ChrX:Xp22.31
likely 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:7847150-8460867)x0 copy number loss See cases [RCV000141951] ChrX:7847150..8460867 [GRCh38]
ChrX:7815191..8428908 [GRCh37]
ChrX:7775191..8388908 [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 Xp22.33-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 Xp22.31(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 Xp22.31(chrX:7842674-8627284)x3 copy number gain See cases [RCV000143622] ChrX:7842674..8627284 [GRCh38]
ChrX:7810715..8595325 [GRCh37]
ChrX:7770715..8555325 [NCBI36]
ChrX:Xp22.31
uncertain significance
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.31(chrX:6922830-8167603)x1 copy number loss See cases [RCV000143570] ChrX:6922830..8167603 [GRCh38]
ChrX:6840871..8135644 [GRCh37]
ChrX:6850871..8095644 [NCBI36]
ChrX:Xp22.31
likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)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
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_004650.3(PNPLA4):c.224G>A (p.Arg75Lys) single nucleotide variant Abnormality of neuronal migration [RCV000201381] ChrX:7922055 [GRCh38]
ChrX:7890096 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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:7449660-8150511)x2 copy number gain See cases [RCV000203430] ChrX:7449660..8150511 [GRCh37]
ChrX:Xp22.31
uncertain significance
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: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:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [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:7810799-8431008)x3 copy number gain See cases [RCV000511312] ChrX:7810799..8431008 [GRCh37]
ChrX:Xp22.31
likely benign
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 Xp22.31(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 Xp22.33-11.21(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 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
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: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 Xp22.33-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: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:7533820-8151615)x2 copy number gain See cases [RCV000447850] ChrX:7533820..8151615 [GRCh37]
ChrX:Xp22.31
benign
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: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 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.11:g.(?_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
GRCh37/hg19 Xp22.31(chrX:7187971-8327789)x2 copy number gain See cases [RCV000448205] ChrX:7187971..8327789 [GRCh37]
ChrX:Xp22.31
uncertain significance
NC_000023.11:g.(?_6538718)_(8151196_?)dup duplication Schizophrenia [RCV000416896] ChrX:6538718..8151196 [GRCh38]
ChrX:6466759..8079237 [NCBI36]
ChrX:Xp22.31
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31(chrX:6430651-8034993)x1 copy number loss See cases [RCV000515581] ChrX:6430651..8034993 [GRCh37]
ChrX:Xp22.31
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 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
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 Xp22.33-11.1(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 Xp22.31(chrX:6179830-8605251)x2 copy number gain See cases [RCV000515607] ChrX:6179830..8605251 [GRCh37]
ChrX:Xp22.31
likely 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: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-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 Xp22.31(chrX:7591725-8319239)x2 copy number gain See cases [RCV000512200] ChrX:7591725..8319239 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.31(chrX:7820636-7960118)x2 copy number gain not provided [RCV000659232] ChrX:7820636..7960118 [GRCh37]
ChrX:Xp22.31
likely benign
Single allele duplication not provided [RCV000678030] ChrX:6453036..8139238 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
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 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:2051958-8135053)x1 copy number loss not provided [RCV000684231] ChrX:2051958..8135053 [GRCh37]
ChrX:Xp22.33-22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6429319-8135644)x3 copy number gain not provided [RCV000684242] ChrX:6429319..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6448751-8135644)x3 copy number gain not provided [RCV000684243] ChrX:6448751..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6448751-8135644)x1 copy number loss not provided [RCV000684244] ChrX:6448751..8135644 [GRCh37]
ChrX:Xp22.31
pathogenic|uncertain significance
GRCh37/hg19 Xp22.31(chrX:6455151-8128200)x3 copy number gain not provided [RCV000684247] ChrX:6455151..8128200 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6500765-8135644)x3 copy number gain not provided [RCV000684248] ChrX:6500765..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6577106-8041392)x0 copy number loss not provided [RCV000684250] ChrX:6577106..8041392 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6449233-8135644)x2 copy number gain not provided [RCV000684245] ChrX:6449233..8135644 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6449236-8135644)x0 copy number loss not provided [RCV000684246] ChrX:6449236..8135644 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6631977-8135644)x3 copy number gain not provided [RCV000684253] ChrX:6631977..8135644 [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 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.31(chrX:6709092-8135053)x0 copy number loss not provided [RCV000684254] ChrX:6709092..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:7200568-8003899)x3 copy number gain not provided [RCV000684260] ChrX:7200568..8003899 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6542443-7951092)x0 copy number loss not provided [RCV000684249] ChrX:6542443..7951092 [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 Xp22.33-11.21(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 Xp22.33-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:6442425-8135239)x3 copy number gain not provided [RCV000753330] ChrX:6442425..8135239 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6446825-8144888)x3 copy number gain not provided [RCV000753332] ChrX:6446825..8144888 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6451799-8135053)x0 copy number loss not provided [RCV000753335] ChrX:6451799..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6454813-8135053)x2 copy number gain not provided [RCV000753340] ChrX:6454813..8135053 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6454813-8135239)x2 copy number gain not provided [RCV000753341] ChrX:6454813..8135239 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x3 copy number gain not provided [RCV000753345] ChrX:6456940..8135053 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:6456940-8135053)x0 copy number loss not provided [RCV000753346] ChrX:6456940..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:7385720-8192224)x2 copy number gain not provided [RCV000753356] ChrX:7385720..8192224 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:7517051-8135239)x3 copy number gain not provided [RCV000753357] ChrX:7517051..8135239 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:7819527-8432715)x3 copy number gain not provided [RCV000753360] ChrX:7819527..8432715 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:7820766-7932124)x3 copy number gain not provided [RCV000753361] ChrX:7820766..7932124 [GRCh37]
ChrX:Xp22.31
benign
GRCh37/hg19 Xp22.31(chrX:6449601-8135053)x1 copy number loss not provided [RCV000753334] ChrX:6449601..8135053 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6454813-8139581)x2 copy number gain not provided [RCV000753342] ChrX:6454813..8139581 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:7537276-8135053)x2 copy number gain not provided [RCV000753358] ChrX:7537276..8135053 [GRCh37]
ChrX:Xp22.31
likely benign
GRCh37/hg19 Xp22.31(chrX:7606974-8144888)x3 copy number gain not provided [RCV000753359] ChrX:7606974..8144888 [GRCh37]
ChrX:Xp22.31
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-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: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
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
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 Xp22.33-22.31(chrX:1-9298403) copy number loss not provided [RCV000767649] ChrX:1..9298403 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.31(chrX:6451799-8141017)x1 copy number loss See cases [RCV000790571] ChrX:6451799..8141017 [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
NM_004650.3(PNPLA4):c.495C>T (p.Gly165=) single nucleotide variant not provided [RCV000926915] ChrX:7902124 [GRCh38]
ChrX:7870165 [GRCh37]
ChrX:Xp22.31
benign
NM_004650.3(PNPLA4):c.337G>A (p.Val113Ile) single nucleotide variant not provided [RCV000894381] ChrX:7921787 [GRCh38]
ChrX:7889828 [GRCh37]
ChrX:Xp22.31
benign
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 Xp22.31(chrX:7810730-8431008)x1 copy number loss not provided [RCV000847742] ChrX:7810730..8431008 [GRCh37]
ChrX:Xp22.31
uncertain significance
GRCh37/hg19 Xp22.31(chrX:6896604-7887498)x1 copy number loss not provided [RCV001007247] ChrX:6896604..7887498 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6449836-8135645)x1 copy number loss not provided [RCV000846489] ChrX:6449836..8135645 [GRCh37]
ChrX:Xp22.31
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
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
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 Xp22.31(chrX:7555799-8135053)x3 copy number gain See cases [RCV001194527] ChrX:7555799..8135053 [GRCh37]
ChrX:Xp22.31
uncertain significance
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:6449752-8135645)x2 copy number gain not provided [RCV000846381] ChrX:6449752..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 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:169790-8465951)x1 copy number loss not provided [RCV000848066] ChrX:169790..8465951 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.33-22.31(chrX:168546-8503210)x1 copy number loss not provided [RCV001007202] ChrX:168546..8503210 [GRCh37]
ChrX:Xp22.33-22.31
pathogenic
GRCh37/hg19 Xp22.31(chrX:6784328-8071202)x0 copy number loss not provided [RCV001007246] ChrX:6784328..8071202 [GRCh37]
ChrX:Xp22.31
pathogenic
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)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 Xp22.31(chrX:6449836-8135645)x1 copy number loss not provided [RCV000846723] ChrX:6449836..8135645 [GRCh37]
ChrX:Xp22.31
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_004650.3(PNPLA4):c.504C>T (p.Asn168=) single nucleotide variant not provided [RCV000980065] ChrX:7902115 [GRCh38]
ChrX:7870156 [GRCh37]
ChrX:Xp22.31
likely benign
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:6476350-8135053)x3 copy number gain See cases [RCV001194572] ChrX:6476350..8135053 [GRCh37]
ChrX:Xp22.31
likely pathogenic
NM_004650.3(PNPLA4):c.559C>T (p.Arg187Ter) single nucleotide variant not provided [RCV001250723] ChrX:7902060 [GRCh38]
ChrX:7870101 [GRCh37]
ChrX:Xp22.31
uncertain significance
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 Xp22.31(chrX:7056909-8005133)x3 copy number gain Intellectual disability [RCV001250261] ChrX:7056909..8005133 [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 Xp22.33-11.21(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:7863476-9234976)x1 copy number loss not provided [RCV001260014] ChrX:7863476..9234976 [GRCh37]
ChrX:Xp22.31
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: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:24887 AgrOrtholog
COSMIC PNPLA4 COSMIC
Ensembl Genes ENSG00000006757 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000370430 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000406698 UniProtKB/TrEMBL
  ENSP00000415245 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000443157 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000381042 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000442940 UniProtKB/TrEMBL
  ENST00000444736 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000537427 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000006757 GTEx
HGNC ID HGNC:24887 ENTREZGENE
Human Proteome Map PNPLA4 Human Proteome Map
InterPro Acyl_Trfase/lysoPLipase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PLPL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PNPLA4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PNPLA_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8228 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8228 ENTREZGENE
OMIM 300102 OMIM
PANTHER PTHR12406 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Patatin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134910531 PharmGKB
PROSITE PNPLA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52151 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RBU8 ENTREZGENE, UniProtKB/TrEMBL
  C9IZF6_HUMAN UniProtKB/TrEMBL
  P41247 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K1H3 UniProtKB/Swiss-Prot
  B4E362 UniProtKB/Swiss-Prot
  Q8WW83 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 PNPLA4  patatin like phospholipase domain containing 4    patatin-like phospholipase domain containing 4  Symbol and/or name change 5135510 APPROVED