CMC4 (C-X9-C motif containing 4) - Rat Genome Database

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Gene: CMC4 (C-X9-C motif containing 4) Homo sapiens
Analyze
Symbol: CMC4
Name: C-X9-C motif containing 4
RGD ID: 2308876
HGNC Page HGNC
Description: Localizes to mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: C-x(9)-C motif containing 4; C-x(9)-C motif containing 4 homolog; C6.1B; cx9C motif-containing protein 4; mature T-cell proliferation 1 neighbor protein; mature T-cell proliferation 1, isoform p8; mature T-cell proliferation-1 type A; MGC2069; MTCP-1 type A; MTCP1; MTCP1B; MTCP1NB; p8; p8MTCP1; protein p8 MTCP-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: MTCP1 (Gene ID: 4515) and CMC4 (Gene ID: 100272147) share the MTCP1 symbol/alias in common. MTCP1 has been used as an alternative name for C-X9-C motif containing 4 (CMC4), which can be confused with the official symbol for mature T cell proliferation 1 (MTCP1). [06 Jul 2018]; Note: Prior to build 37.1, geneID:4515 (MTCP1) was annotated as a single locus expressing transcripts with two distinct protein products. The locus was subsequently split into two geneIDs, with geneID:4515 representing the upstream locus (MTCP1, aka isoform p13) and geneID:100272147 representing the downstream locus (MTCP1NB, aka isoform p8). [13 Feb 2013]
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX155,061,622 - 155,071,136 (-)EnsemblGRCh38hg38GRCh38
GRCh38X155,061,622 - 155,071,136 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X154,289,897 - 154,299,411 (-)NCBIGRCh37GRCh37hg19GRCh37
CeleraX154,448,614 - 154,458,264 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,835,131 - 142,844,484 (-)NCBIHuRef
CHM1_1X154,201,524 - 154,211,174 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:1303175   PMID:7784073   PMID:7970717   PMID:8361760   PMID:9405159   PMID:11076863   PMID:11181995   PMID:12477932   PMID:15489334   PMID:15489336   PMID:16381901   PMID:18029348  
PMID:20922212   PMID:21873635   PMID:25544563   PMID:29568061  


Genomics

Comparative Map Data
CMC4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX155,061,622 - 155,071,136 (-)EnsemblGRCh38hg38GRCh38
GRCh38X155,061,622 - 155,071,136 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X154,289,897 - 154,299,411 (-)NCBIGRCh37GRCh37hg19GRCh37
CeleraX154,448,614 - 154,458,264 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,835,131 - 142,844,484 (-)NCBIHuRef
CHM1_1X154,201,524 - 154,211,174 (-)NCBICHM1_1
Cmc4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X74,448,452 - 74,460,190 (-)NCBIGRCm39mm39
GRCm39 EnsemblX74,448,452 - 74,460,190 (-)Ensembl
GRCm38X75,404,846 - 75,416,584 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX75,404,846 - 75,416,584 (-)EnsemblGRCm38mm10GRCm38
Cytogenetic MapXA7.3NCBI
Cmc4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.218125,308 - 132,163 (+)NCBI
Rnor_6.0 Ensembl18408,219 - 410,098 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.018407,517 - 414,110 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.018453,285 - 459,145 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera18119,279 - 125,719 (+)NCBICelera
Cytogenetic Map18p13NCBI
Cmc4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955594618,516 - 624,780 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955594618,516 - 624,780 (+)NCBIChiLan1.0ChiLan1.0
CMC4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X154,379,475 - 154,388,932 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX154,379,485 - 154,388,932 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X144,540,603 - 144,550,152 (-)NCBIMhudiblu_PPA_v0panPan3
CMC4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X123,071,076 - 123,080,799 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX108,064,456 - 108,074,186 (-)NCBI
ROS_Cfam_1.0X126,198,629 - 126,208,364 (-)NCBI
UMICH_Zoey_3.1X121,946,517 - 121,956,248 (-)NCBI
UNSW_CanFamBas_1.0X124,468,959 - 124,478,687 (-)NCBI
UU_Cfam_GSD_1.0X124,189,658 - 124,199,387 (-)NCBI
Cmc4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X119,964,268 - 119,982,416 (-)NCBI
SpeTri2.0NW_004936927317,417 - 341,016 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CMC4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X125,372,941 - 125,383,272 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X143,099,933 - 143,110,085 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CMC4
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X129,348,831 - 129,358,601 (-)NCBI
ChlSab1.1 EnsemblX129,349,054 - 129,351,326 (-)Ensembl
Cmc4
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624963212,470 - 221,697 (+)NCBI

Position Markers
SHGC-2526  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,289,962 - 154,290,124UniSTSGRCh37
Build 36X153,943,156 - 153,943,318RGDNCBI36
CeleraX154,448,679 - 154,448,841RGD
Cytogenetic MapXq28UniSTS
HuRefX142,835,196 - 142,835,358UniSTS
GeneMap99-G3 RH MapX3257.0UniSTS
ECD02345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,289,813 - 154,290,646UniSTSGRCh37
Build 36X153,943,007 - 153,943,840RGDNCBI36
CeleraX154,448,530 - 154,449,363RGD
Cytogenetic MapXq28UniSTS
HuRefX142,835,047 - 142,835,880UniSTS
ECD07679  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,294,235 - 154,294,910UniSTSGRCh37
Build 36X153,947,429 - 153,948,104RGDNCBI36
CeleraX154,452,952 - 154,453,627RGD
Cytogenetic MapXq28UniSTS
HuRefX142,839,594 - 142,840,269UniSTS
ECD07752  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,293,555 - 154,294,228UniSTSGRCh37
Build 36X153,946,749 - 153,947,422RGDNCBI36
CeleraX154,452,272 - 154,452,945RGD
Cytogenetic MapXq28UniSTS
HuRefX142,838,914 - 142,839,587UniSTS
ECD08846  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,291,256 - 154,291,900UniSTSGRCh37
Build 36X153,944,450 - 153,945,094RGDNCBI36
CeleraX154,449,973 - 154,450,617RGD
Cytogenetic MapXq28UniSTS
HuRefX142,836,490 - 142,837,134UniSTS
ECD09787  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,291,972 - 154,292,592UniSTSGRCh37
Build 36X153,945,166 - 153,945,786RGDNCBI36
CeleraX154,450,689 - 154,451,309RGD
Cytogenetic MapXq28UniSTS
ECD11213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,300,274 - 154,300,853UniSTSGRCh37
Build 36X153,953,468 - 153,954,047RGDNCBI36
CeleraX154,458,991 - 154,459,570RGD
Cytogenetic MapXq28UniSTS
ECD11247  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,298,603 - 154,299,181UniSTSGRCh37
Build 36X153,951,797 - 153,952,375RGDNCBI36
CeleraX154,457,320 - 154,457,898RGD
Cytogenetic MapXq28UniSTS
HuRefX142,843,905 - 142,844,483UniSTS
ECD11314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,292,920 - 154,293,496UniSTSGRCh37
Build 36X153,946,114 - 153,946,690RGDNCBI36
CeleraX154,451,637 - 154,452,213RGD
Cytogenetic MapXq28UniSTS
HuRefX142,838,279 - 142,838,855UniSTS
ECD13141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,294,998 - 154,295,523UniSTSGRCh37
Build 36X153,948,192 - 153,948,717RGDNCBI36
CeleraX154,453,715 - 154,454,240RGD
Cytogenetic MapXq28UniSTS
HuRefX142,840,357 - 142,840,807UniSTS
ECD13341  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,298,027 - 154,298,547UniSTSGRCh37
Build 36X153,951,221 - 153,951,741RGDNCBI36
CeleraX154,456,744 - 154,457,264RGD
Cytogenetic MapXq28UniSTS
HuRefX142,843,329 - 142,843,849UniSTS
ECD14504  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,297,088 - 154,297,580UniSTSGRCh37
Build 36X153,950,282 - 153,950,774RGDNCBI36
CeleraX154,455,805 - 154,456,297RGD
Cytogenetic MapXq28UniSTS
HuRefX142,842,390 - 142,842,882UniSTS
ECD14556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,296,432 - 154,296,923UniSTSGRCh37
Build 36X153,949,626 - 153,950,117RGDNCBI36
CeleraX154,455,149 - 154,455,640RGD
Cytogenetic MapXq28UniSTS
HuRefX142,841,716 - 142,842,225UniSTS
ECD15463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,295,935 - 154,296,404UniSTSGRCh37
Build 36X153,949,129 - 153,949,598RGDNCBI36
CeleraX154,454,652 - 154,455,121RGD
Cytogenetic MapXq28UniSTS
HuRefX142,841,219 - 142,841,688UniSTS
ECD16890  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,299,842 - 154,300,263UniSTSGRCh37
Build 36X153,953,036 - 153,953,457RGDNCBI36
CeleraX154,458,559 - 154,458,980RGD
Cytogenetic MapXq28UniSTS
ECD22941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,299,217 - 154,299,420UniSTSGRCh37
Build 36X153,952,411 - 153,952,614RGDNCBI36
CeleraX154,457,934 - 154,458,137RGD
Cytogenetic MapXq28UniSTS
stSG604427  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,290,429 - 154,291,842UniSTSGRCh37
Build 36X153,943,623 - 153,945,036RGDNCBI36
CeleraX154,449,146 - 154,450,559RGD
Cytogenetic MapXq28UniSTS
HuRefX142,835,663 - 142,837,076UniSTS
stSG604428  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,291,853 - 154,293,041UniSTSGRCh37
Build 36X153,945,047 - 153,946,235RGDNCBI36
CeleraX154,450,570 - 154,451,758RGD
Cytogenetic MapXq28UniSTS
HuRefX142,837,087 - 142,838,400UniSTS
stSG604429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,293,022 - 154,294,247UniSTSGRCh37
Build 36X153,946,216 - 153,947,441RGDNCBI36
CeleraX154,451,739 - 154,452,964RGD
Cytogenetic MapXq28UniSTS
HuRefX142,838,381 - 142,839,606UniSTS
stSG604430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,294,306 - 154,295,523UniSTSGRCh37
Build 36X153,947,500 - 153,948,717RGDNCBI36
CeleraX154,453,023 - 154,454,240RGD
Cytogenetic MapXq28UniSTS
HuRefX142,839,665 - 142,840,807UniSTS
stSG604431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,295,505 - 154,296,841UniSTSGRCh37
Build 36X153,948,699 - 153,950,035RGDNCBI36
CeleraX154,454,222 - 154,455,558RGD
Cytogenetic MapXq28UniSTS
HuRefX142,840,789 - 142,842,143UniSTS
stSG604432  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,296,822 - 154,298,033UniSTSGRCh37
Build 36X153,950,016 - 153,951,227RGDNCBI36
CeleraX154,455,539 - 154,456,750RGD
Cytogenetic MapXq28UniSTS
HuRefX142,842,124 - 142,843,335UniSTS
stSG604433  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,298,015 - 154,299,016UniSTSGRCh37
Build 36X153,951,209 - 153,952,210RGDNCBI36
CeleraX154,456,732 - 154,457,733RGD
Cytogenetic MapXq28UniSTS
HuRefX142,843,317 - 142,844,318UniSTS
stSG604434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,298,997 - 154,300,238UniSTSGRCh37
Build 36X153,952,191 - 153,953,432RGDNCBI36
CeleraX154,457,714 - 154,458,955RGD
Cytogenetic MapXq28UniSTS
stSG604435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,300,219 - 154,301,483UniSTSGRCh37
Build 36X153,953,413 - 153,954,677RGDNCBI36
CeleraX154,458,936 - 154,460,200RGD
Cytogenetic MapXq28UniSTS
D7S2905  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,289,906 - 154,290,051UniSTSGRCh37
Build 36X153,943,100 - 153,943,245RGDNCBI36
CeleraX154,448,623 - 154,448,768RGD
Cytogenetic MapXq28UniSTS
HuRefX142,835,140 - 142,835,285UniSTS
MARC_7353-7354:992008374:4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,292,261 - 154,293,257UniSTSGRCh37
Build 36X153,945,455 - 153,946,451RGDNCBI36
CeleraX154,450,978 - 154,451,974RGD
HuRefX142,837,495 - 142,838,616UniSTS
MTCP1_2941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X154,289,768 - 154,290,320UniSTSGRCh37
Build 36X153,942,962 - 153,943,514RGDNCBI36
CeleraX154,448,485 - 154,449,037RGD
HuRefX142,835,002 - 142,835,554UniSTS
STS-AA029308  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq28UniSTS
GeneMap99-GB4 RH MapX356.07UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:266
Count of miRNA genes:127
Interacting mature miRNAs:130
Transcripts:ENST00000369479, ENST00000369484
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 appendage entire extraembryonic component
High
Medium
Low 2 1 12 5 16 11 1 12 20 1
Below cutoff 68 1 24 14 95 18 165 33 46 21 84 87 2 1 2

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000369479   ⟹   ENSP00000358491
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,061,628 - 155,065,368 (-)Ensembl
RefSeq Acc Id: ENST00000369484   ⟹   ENSP00000358496
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX155,061,622 - 155,071,136 (-)Ensembl
RefSeq Acc Id: NM_001018024   ⟹   NP_001018024
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,061,622 - 155,071,136 (-)NCBI
GRCh37X154,289,897 - 154,299,547 (-)RGD
Build 36X153,943,080 - 153,952,830 (-)NCBI Archive
CeleraX154,448,614 - 154,458,264 (-)RGD
HuRefX142,835,131 - 142,844,484 (-)RGD
CHM1_1X154,201,524 - 154,211,174 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001018024 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH02600 (Get FASTA)   NCBI Sequence Viewer  
  AAP35395 (Get FASTA)   NCBI Sequence Viewer  
  CAA80829 (Get FASTA)   NCBI Sequence Viewer  
  EAW72639 (Get FASTA)   NCBI Sequence Viewer  
  P56277 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001018024   ⟸   NM_001018024
- UniProtKB: P56277 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000358496   ⟸   ENST00000369484
RefSeq Acc Id: ENSP00000358491   ⟸   ENST00000369479
Protein Domains
CHCH

Promoters
RGD ID:13628688
Promoter ID:EPDNEW_H29582
Type:initiation region
Name:CMC4_2
Description:C-X9-C motif containing 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29584  EPDNEW_H29583  EPDNEW_H29585  EPDNEW_H29587  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,061,915 - 155,061,975EPDNEW
RGD ID:13628692
Promoter ID:EPDNEW_H29583
Type:initiation region
Name:CMC4_3
Description:C-X9-C motif containing 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29582  EPDNEW_H29584  EPDNEW_H29585  EPDNEW_H29587  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,070,823 - 155,070,883EPDNEW
RGD ID:13628690
Promoter ID:EPDNEW_H29584
Type:initiation region
Name:CMC4_1
Description:C-X9-C motif containing 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29582  EPDNEW_H29583  EPDNEW_H29585  EPDNEW_H29587  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,071,129 - 155,071,189EPDNEW
RGD ID:13628694
Promoter ID:EPDNEW_H29585
Type:initiation region
Name:CMC4_4
Description:C-X9-C motif containing 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29582  EPDNEW_H29584  EPDNEW_H29583  EPDNEW_H29587  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X155,071,329 - 155,071,389EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)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 Xq28(chrX:150036146-156022206)x3 copy number gain See cases [RCV000050946] ChrX:150036146..156022206 [GRCh38]
ChrX:149298619..155251871 [GRCh37]
ChrX:148955035..154905065 [NCBI36]
ChrX:Xq28
pathogenic
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: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 Xp22.33-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 Xq28(chrX:149989929-156022206)x3 copy number gain See cases [RCV000050657] ChrX:149989929..156022206 [GRCh38]
ChrX:149158160..155251871 [GRCh37]
ChrX:148908818..154905065 [NCBI36]
ChrX:Xq28
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 Xq28(chrX:154931352-155331063)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050362]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050362]|See cases [RCV000050362] ChrX:154931352..155331063 [GRCh38]
ChrX:154159627..154560375 [GRCh37]
ChrX:Xq28
uncertain significance
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 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]|See cases [RCV000051746] ChrX:140445228..155998166 [GRCh38]
ChrX:139527393..155227831 [GRCh37]
ChrX:139355059..154881025 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]|See cases [RCV000051747] ChrX:145879711..156022206 [GRCh38]
ChrX:146715565..155251871 [GRCh37]
ChrX:144768921..154905065 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1 copy number loss See cases [RCV000051750] ChrX:153296806..155699618 [GRCh38]
ChrX:152568327..154929279 [GRCh37]
ChrX:152215458..154582473 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss See cases [RCV000051729] ChrX:126537861..155996431 [GRCh38]
ChrX:125671844..155226096 [GRCh37]
ChrX:125499525..154879290 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:136956500-156020993)x1 copy number loss See cases [RCV000051732] ChrX:136956500..156020993 [GRCh38]
ChrX:136038659..155250658 [GRCh37]
ChrX:135866325..154903852 [NCBI36]
ChrX:Xq26.3-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:154897608-155335682)x1 copy number loss See cases [RCV000051761] ChrX:154897608..155335682 [GRCh38]
ChrX:153779077..154218185 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:154984506-155098444)x0 copy number loss See cases [RCV000051763] ChrX:154984506..155098444 [GRCh38]
ChrX:153865975..153979913 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-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 Xq28(chrX:153932045-155611794)x3 copy number gain See cases [RCV000052529] ChrX:153932045..155611794 [GRCh38]
ChrX:152850692..154494649 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]|See cases [RCV000052490] ChrX:152932818..156022206 [GRCh38]
ChrX:152173071..155251871 [GRCh37]
ChrX:151852018..154905065 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2 copy number gain See cases [RCV000052491] ChrX:153395425..155687381 [GRCh38]
ChrX:152314077..154570236 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain See cases [RCV000052445] ChrX:123731372..155687381 [GRCh38]
ChrX:122865222..154917042 [GRCh37]
ChrX:122692903..154570236 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2 copy number gain See cases [RCV000052471] ChrX:140226495..155687381 [GRCh38]
ChrX:139308651..154917042 [GRCh37]
ChrX:139136317..154570236 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3 copy number gain See cases [RCV000052475] ChrX:141160282..155699618 [GRCh38]
ChrX:140254480..154929279 [GRCh37]
ChrX:140082146..154582473 [NCBI36]
ChrX:Xq27.1-28
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-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-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 Xq28(chrX:154791149-155996431)x3 copy number gain See cases [RCV000054323] ChrX:154791149..155996431 [GRCh38]
ChrX:153672618..154879290 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq28(chrX:155007151-155491717)x3 copy number gain See cases [RCV000054324] ChrX:155007151..155491717 [GRCh38]
ChrX:154418093..154721378 [GRCh37]
ChrX:153888620..154374572 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:153576750-154563104)x1 copy number loss See cases [RCV000663390] ChrX:153576750..154563104 [GRCh37]
ChrX:Xq28
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 Xq27.1-28(chrX:139333024-155978689)x1 copy number loss See cases [RCV000133818] ChrX:139333024..155978689 [GRCh38]
ChrX:138415183..155208354 [GRCh37]
ChrX:138242849..154861548 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xq28(chrX:154931352-155331063)x1 copy number loss See cases [RCV000133832] ChrX:154931352..155331063 [GRCh38]
ChrX:153812821..154213569 [NCBI36]
ChrX:Xq28
likely pathogenic|uncertain significance
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 Xq28(chrX:154931352-155331063)x3 copy number gain See cases [RCV000050362] ChrX:154931352..155331063 [GRCh38]
ChrX:153812821..154213569 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq28(chrX:154984506-155098444)x1 copy number loss See cases [RCV000051762] ChrX:154984506..155098444 [GRCh38]
ChrX:153865975..153979913 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3 copy number gain See cases [RCV000133725] ChrX:144627217..155434735 [GRCh38]
ChrX:146715565..154664396 [GRCh37]
ChrX:143516380..154317590 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
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 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq28(chrX:154836929-155123329)x3 copy number gain See cases [RCV000135629] ChrX:154836929..155123329 [GRCh38]
ChrX:153718398..154004798 [NCBI36]
ChrX:Xq28
likely benign|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss See cases [RCV000136095] ChrX:128473235..156003229 [GRCh38]
ChrX:127607213..155232894 [GRCh37]
ChrX:127434894..154886088 [NCBI36]
ChrX:Xq25-28
pathogenic
GRCh38/hg38 Xq28(chrX:154679854-156003229)x1 copy number loss See cases [RCV000136031] ChrX:154679854..156003229 [GRCh38]
ChrX:153908131..155232894 [GRCh37]
ChrX:153561325..154886088 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140783390-155611114)x2 copy number gain See cases [RCV000135881] ChrX:140783390..155611114 [GRCh38]
ChrX:139865555..154785891 [GRCh37]
ChrX:139693221..154493969 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xq28(chrX:154904963-155331063)x1 copy number loss See cases [RCV000137010] ChrX:154904963..155331063 [GRCh38]
ChrX:153786432..154213569 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1 copy number loss See cases [RCV000136912] ChrX:141650284..156022206 [GRCh38]
ChrX:140738414..155251871 [GRCh37]
ChrX:140566080..154905065 [NCBI36]
ChrX:Xq27.2-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:153322656-155522304)x2 copy number gain See cases [RCV000136716] ChrX:153322656..155522304 [GRCh38]
ChrX:152864376..154751965 [GRCh37]
ChrX:152241308..154405159 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq28(chrX:151750863-155522304)x1 copy number loss See cases [RCV000136718] ChrX:151750863..155522304 [GRCh38]
ChrX:150919335..154751965 [GRCh37]
ChrX:150669991..154405159 [NCBI36]
ChrX:Xq28
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 Xq28(chrX:153276277-156003242)x3 copy number gain See cases [RCV000137498] ChrX:153276277..156003242 [GRCh38]
ChrX:152465185..155232907 [GRCh37]
ChrX:152118379..154886101 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq26.3-28(chrX:137118983-156003242)x1 copy number loss See cases [RCV000137257] ChrX:137118983..156003242 [GRCh38]
ChrX:136201142..155232907 [GRCh37]
ChrX:136028808..154886101 [NCBI36]
ChrX:Xq26.3-28
pathogenic|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss See cases [RCV000137167] ChrX:123793526..156022206 [GRCh38]
ChrX:122927376..155251871 [GRCh37]
ChrX:122755057..154905065 [NCBI36]
ChrX:Xq25-28
pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq28(chrX:154890368-155348538)x2 copy number gain See cases [RCV000137816] ChrX:154890368..155348538 [GRCh38]
ChrX:153771837..154231046 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1 copy number loss See cases [RCV000138679] ChrX:143553831..156003229 [GRCh38]
ChrX:142641674..155232894 [GRCh37]
ChrX:142469340..154886088 [NCBI36]
ChrX:Xq27.3-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
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 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|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 Xq28(chrX:154890313-155331062)x1 copy number loss See cases [RCV000139766] ChrX:154890313..155331062 [GRCh38]
ChrX:153771782..154213568 [NCBI36]
ChrX:Xq28
likely pathogenic|uncertain significance
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1 copy number loss See cases [RCV000139724] ChrX:139530928..156003229 [GRCh38]
ChrX:138613087..155232894 [GRCh37]
ChrX:138440753..154886088 [NCBI36]
ChrX:Xq27.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq28(chrX:154883744-155336409)x2 copy number gain See cases [RCV000141857] ChrX:154883744..155336409 [GRCh38]
ChrX:154112019..154565718 [GRCh37]
ChrX:153765213..154218912 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq28(chrX:154892324-155339449)x1 copy number loss See cases [RCV000142097] ChrX:154892324..155339449 [GRCh38]
ChrX:154120599..154568758 [GRCh37]
ChrX:153773793..154221952 [NCBI36]
ChrX:Xq28
uncertain significance
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2 copy number gain See cases [RCV000143002] ChrX:148951460..155434653 [GRCh38]
ChrX:148956425..154664314 [GRCh37]
ChrX:147840690..154317508 [NCBI36]
ChrX:Xq28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
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 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
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 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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
GRCh37/hg19 Xq28(chrX:154124111-154564398) copy number gain See cases [RCV000169646] ChrX:154124111..154564398 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:154124111-154564398) copy number loss See cases [RCV000169647] ChrX:154124111..154564398 [GRCh37]
ChrX:Xq28
pathogenic|likely pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:154256858-154297348)x0 copy number loss See cases [RCV000258800] ChrX:154256858..154297348 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [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 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:154115785-154528181)x1 copy number loss See cases [RCV000239872] ChrX:154115785..154528181 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2 copy number gain See cases [RCV000240530] ChrX:142174780..155250222 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
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 Xq25-28(chrX:121022022-155211482)x1 copy number loss See cases [RCV000240337] ChrX:121022022..155211482 [GRCh37]
ChrX:Xq25-28
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:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
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 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2 copy number gain See cases [RCV000447331] ChrX:152228560..154930047 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1 copy number loss See cases [RCV000446761] ChrX:150253008..155233731 [GRCh37]
ChrX:Xq28
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 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
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 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28
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 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1 copy number loss See cases [RCV000448865] ChrX:134114063..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2 copy number gain See cases [RCV000510478] ChrX:151201777..154741703 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:154124170-154528181)x1 copy number loss X-linked intellectual disability syndrome [RCV000509496] ChrX:154124170..154528181 [GRCh37]
ChrX:Xq28
not provided
GRCh37/hg19 Xq28(chrX:154110363-154565718)x3 copy number gain See cases [RCV000510427] ChrX:154110363..154565718 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
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 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq28(chrX:154110363-154568758)x3 copy number gain See cases [RCV000511866] ChrX:154110363..154568758 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:154250433-154317840)x0 copy number loss See cases [RCV000511063] ChrX:154250433..154317840 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1 copy number loss See cases [RCV000511228] ChrX:146232592..155233731 [GRCh37]
ChrX:Xq27.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:154117578-154553189)x2 copy number gain See cases [RCV000510828] ChrX:154117578..154553189 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3 copy number gain See cases [RCV000511034] ChrX:133944147..155233731 [GRCh37]
ChrX:Xq26.3-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1 copy number loss See cases [RCV000510866] ChrX:151963528..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1 copy number loss See cases [RCV000510920] ChrX:151311551..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:154120620-154565718)x1 copy number loss See cases [RCV000512474] ChrX:154120620..154565718 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
Single allele deletion not provided [RCV000677993] ChrX:154115785..154528181 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1 copy number loss not provided [RCV000684397] ChrX:138331745..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1 copy number loss not provided [RCV000684401] ChrX:139504488..155233731 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3 copy number gain not provided [RCV000684402] ChrX:140388077..155233731 [GRCh37]
ChrX:Xq27.2-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq28(chrX:154110363-154417230)x2 copy number gain not provided [RCV000684417] ChrX:154110363..154417230 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:154120620-154568774)x2 copy number gain not provided [RCV000684418] ChrX:154120620..154568774 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:154120640-154565718)x1 copy number loss not provided [RCV000684419] ChrX:154120640..154565718 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:154296581-154443920)x2 copy number gain not provided [RCV000684420] ChrX:154296581..154443920 [GRCh37]
ChrX:Xq28
likely pathogenic|uncertain significance
GRCh37/hg19 Xq28(chrX:153749360-155233731)x3 copy number gain not provided [RCV000684416] ChrX:153749360..155233731 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:125733292..155233846 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq28(chrX:153904473-155090513)x0 copy number loss not provided [RCV000753943] ChrX:153904473..155090513 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:154038887-154758477)x3 copy number gain not provided [RCV000753944] ChrX:154038887..154758477 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:154038887-154921557)x0 copy number loss not provided [RCV000753945] ChrX:154038887..154921557 [GRCh37]
ChrX:Xq28
benign
GRCh37/hg19 Xq28(chrX:154070167-154927199)x1 copy number loss not provided [RCV000753946] ChrX:154070167..154927199 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1 copy number loss not provided [RCV000753810] ChrX:138750575..155246749 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1 copy number loss not provided [RCV000753815] ChrX:139504958..155254881 [GRCh37]
ChrX:Xq27.1-28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
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
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 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
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 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:154252722-154343784)x0 copy number loss not provided [RCV001007371] ChrX:154252722..154343784 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq28(chrX:153761240-155227607) copy number loss not provided [RCV000767811] ChrX:153761240..155227607 [GRCh37]
ChrX:Xq28
likely pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945) copy number gain not provided [RCV000767679] ChrX:134975270..155233945 [GRCh37]
ChrX:Xq26.3-28
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 Xq28(chrX:153941568-154290231)x2 copy number gain not provided [RCV000846317] ChrX:153941568..154290231 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq28(chrX:154238385-154339708)x2 copy number gain not provided [RCV000847882] ChrX:154238385..154339708 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:122924044..155233731 [GRCh37]
ChrX:Xq25-28
pathogenic
GRCh37/hg19 Xq28(chrX:154117563-154633634)x3 copy number gain not provided [RCV000847765] ChrX:154117563..154633634 [GRCh37]
ChrX:Xq28
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 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xq28(chrX:154117563-154617602)x2 copy number gain not provided [RCV000845701] ChrX:154117563..154617602 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq28(chrX:154112019-154625699)x2 copy number gain not provided [RCV001007369] ChrX:154112019..154625699 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:154051891-155236747)x3 copy number gain See cases [RCV001194554] ChrX:154051891..155236747 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:122132166..155097214 [GRCh37]
ChrX:Xq25-28
likely pathogenic
GRCh37/hg19 Xq28(chrX:154120620-154617577)x3 copy number gain not provided [RCV001007370] ChrX:154120620..154617577 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq28(chrX:154130223-154563104)x3 copy number gain See cases [RCV001194537] ChrX:154130223..154563104 [GRCh37]
ChrX:Xq28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq28(chrX:154078238-154563469)x3 copy number gain not provided [RCV001260057] ChrX:154078238..154563469 [GRCh37]
ChrX:Xq28
pathogenic
NM_023934.4(FUNDC2):c.361-2517_0del deletion Aganglionic megacolon [RCV001290038] ChrX:155049151..155071205 [GRCh38]
ChrX:154277426..154299480 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xq28(chrX:154290230-154441876)x3 copy number gain not provided [RCV001258419] ChrX:154290230..154441876 [GRCh37]
ChrX:Xq28
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:35428 AgrOrtholog
COSMIC CMC4 COSMIC
Ensembl Genes ENSG00000182712 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000358491 UniProtKB/Swiss-Prot
  ENSP00000358496 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000369479 UniProtKB/Swiss-Prot
  ENST00000369484 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000182712 GTEx
HGNC ID HGNC:35428 ENTREZGENE
Human Proteome Map CMC4 Human Proteome Map
InterPro Cys_alpha_HP_mot_SF UniProtKB/Swiss-Prot
  MTCP1 UniProtKB/Swiss-Prot
KEGG Report hsa:100272147 UniProtKB/Swiss-Prot
NCBI Gene 100272147 ENTREZGENE
PANTHER PTHR15590 UniProtKB/Swiss-Prot
Pfam MTCP1 UniProtKB/Swiss-Prot
PharmGKB PA164723191 PharmGKB
PROSITE CHCH UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47072 UniProtKB/Swiss-Prot
UniProt CMC4_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q5HYP9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-14 CMC4  C-X9-C motif containing 4    C-x(9)-C motif containing 4  Symbol and/or name change 5135510 APPROVED
2013-10-22 CMC4  C-x(9)-C motif containing 4    C-x(9)-C motif containing 4 homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2012-10-23 CMC4  C-x(9)-C motif containing 4 homolog (S. cerevisiae)  MTCP1NB  mature T-cell proliferation 1 neighbor  Symbol and/or name change 5135510 APPROVED
2011-09-01 MTCP1NB  mature T-cell proliferation 1 neighbor  MTCP1NB  mature T-cell proliferation 1 neighbor  Symbol and/or name change 5135510 APPROVED