MID2 (midline 2) - Rat Genome Database

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Gene: MID2 (midline 2) Homo sapiens
Analyze
Symbol: MID2
Name: midline 2
RGD ID: 1602493
HGNC Page HGNC
Description: Exhibits several functions, including microtubule binding activity; protein homodimerization activity; and transcription coactivator activity. Involved in several processes, including negative regulation of viral process; positive regulation of I-kappaB kinase/NF-kappaB signaling; and positive regulation of NF-kappaB transcription factor activity. Localizes to microtubule. Implicated in non-syndromic X-linked intellectual disability 101.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FLJ37715; FLJ41813; FXY2; midin 2; midin-2; midline defect 2; midline-2; MRX101; probable E3 ubiquitin-protein ligase MID2; RING finger protein 60; RING-type E3 ubiquitin transferase MID2; RNF60; TRIM1; tripartite motif protein 1; tripartite motif-containing protein 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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX107,825,755 - 107,931,637 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX107,825,755 - 107,927,193 (+)EnsemblGRCh38hg38GRCh38
GRCh38X107,825,735 - 107,931,637 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X107,068,965 - 107,174,867 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X106,956,116 - 107,057,077 (+)NCBINCBI36hg18NCBI36
CeleraX107,540,045 - 107,645,826 (+)NCBI
Cytogenetic MapXq22.3NCBI
HuRefX96,692,632 - 96,797,758 (+)NCBIHuRef
CHM1_1X106,979,937 - 107,085,716 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:10400985   PMID:10400986   PMID:10644436   PMID:11331580   PMID:11685209   PMID:11806752   PMID:12477932   PMID:14702039   PMID:15249690   PMID:15489334   PMID:15772651   PMID:16189514  
PMID:16283679   PMID:16434393   PMID:16713569   PMID:18029348   PMID:18248090   PMID:19056867   PMID:19690564   PMID:21143188   PMID:21516116   PMID:23077300   PMID:24115387   PMID:24722188  
PMID:25184681   PMID:25416956   PMID:25910212   PMID:26186194   PMID:26347139   PMID:26496610   PMID:26748699   PMID:26791755   PMID:26871637   PMID:27107014   PMID:28514442   PMID:28611215  
PMID:29121065   PMID:29892012   PMID:29987050   PMID:32296183   PMID:32838362  


Genomics

Comparative Map Data
MID2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX107,825,755 - 107,931,637 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX107,825,755 - 107,927,193 (+)EnsemblGRCh38hg38GRCh38
GRCh38X107,825,735 - 107,931,637 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X107,068,965 - 107,174,867 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X106,956,116 - 107,057,077 (+)NCBINCBI36hg18NCBI36
CeleraX107,540,045 - 107,645,826 (+)NCBI
Cytogenetic MapXq22.3NCBI
HuRefX96,692,632 - 96,797,758 (+)NCBIHuRef
CHM1_1X106,979,937 - 107,085,716 (+)NCBICHM1_1
Mid2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X139,565,056 - 139,668,464 (+)NCBIGRCm39mm39
GRCm39 EnsemblX139,565,348 - 139,668,464 (+)Ensembl
GRCm38X140,664,304 - 140,767,715 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX140,664,599 - 140,767,715 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X137,212,567 - 137,302,254 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X136,011,320 - 136,114,080 (+)NCBImm8
CeleraX123,937,263 - 124,027,053 (+)NCBICelera
Cytogenetic MapXF1NCBI
cM MapX61.35NCBI
Mid2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X104,354,692 - 104,456,757 (+)NCBI
Rnor_6.0 EnsemblX112,020,646 - 112,121,943 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X112,019,897 - 112,121,980 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0352,479,569 - 52,581,663 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X128,496,689 - 128,595,233 (+)NCBIRGSC3.4rn4RGSC3.4
Celera343,484,990 - 43,583,167 (-)NCBICelera
Cytogenetic MapXq33NCBI
Mid2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554907,973,211 - 8,088,427 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554907,977,771 - 8,168,912 (-)NCBIChiLan1.0ChiLan1.0
MID2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X107,290,776 - 107,393,162 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX107,290,776 - 107,393,162 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X96,917,731 - 97,026,545 (+)NCBIMhudiblu_PPA_v0panPan3
MID2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X81,267,037 - 81,467,613 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX81,296,249 - 81,463,210 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX67,387,281 - 67,588,271 (+)NCBI
ROS_Cfam_1.0X82,914,364 - 83,116,618 (+)NCBI
UMICH_Zoey_3.1X80,374,592 - 80,575,813 (+)NCBI
UNSW_CanFamBas_1.0X82,086,451 - 82,288,627 (+)NCBI
UU_Cfam_GSD_1.0X81,878,438 - 82,081,198 (+)NCBI
Mid2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X80,731,399 - 80,828,234 (+)NCBI
SpeTri2.0NW_0049364996,833,328 - 6,926,531 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MID2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX88,294,066 - 88,393,742 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X88,294,032 - 88,394,885 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X102,730,773 - 102,831,117 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MID2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X95,664,705 - 95,760,256 (+)NCBI
ChlSab1.1 EnsemblX95,665,380 - 95,764,762 (+)Ensembl
Mid2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248038,536,946 - 8,650,775 (-)NCBI

Position Markers
DXS7844  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,163,669 - 107,163,821UniSTSGRCh37
Build 36X107,050,325 - 107,050,477RGDNCBI36
CeleraX107,634,628 - 107,634,780RGD
Cytogenetic MapXq22.3UniSTS
HuRefX96,786,560 - 96,786,712UniSTS
DXS7891  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,142,161 - 107,142,282UniSTSGRCh37
Build 36X107,028,817 - 107,028,938RGDNCBI36
CeleraX107,613,120 - 107,613,241RGD
Cytogenetic MapXq22.3UniSTS
HuRefX96,764,757 - 96,764,878UniSTS
BKT11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,136,358 - 107,136,953UniSTSGRCh37
Build 36X107,023,014 - 107,023,609RGDNCBI36
CeleraX107,607,317 - 107,607,912RGD
Cytogenetic MapXq22.3UniSTS
RH18475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,173,554 - 107,173,659UniSTSGRCh37
Build 36X107,060,210 - 107,060,315RGDNCBI36
CeleraX107,644,513 - 107,644,618RGD
Cytogenetic MapXq22.3UniSTS
HuRefX96,796,445 - 96,796,550UniSTS
GeneMap99-GB4 RH MapX283.31UniSTS
NCBI RH MapX556.2UniSTS
WI-14337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,174,708 - 107,174,832UniSTSGRCh37
Build 36X107,061,364 - 107,061,488RGDNCBI36
CeleraX107,645,667 - 107,645,791RGD
Cytogenetic MapXq22.3UniSTS
HuRefX96,797,599 - 96,797,723UniSTS
GeneMap99-GB4 RH MapX293.01UniSTS
Whitehead-RH MapX269.8UniSTS
NCBI RH MapX561.2UniSTS
L42705  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,134,270 - 107,134,373UniSTSGRCh37
Build 36X107,020,926 - 107,021,029RGDNCBI36
CeleraX107,605,229 - 107,605,332RGD
Cytogenetic MapXq22.3UniSTS
HuRefX96,757,152 - 96,757,255UniSTS
DXS6739  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,109,537 - 107,109,760UniSTSGRCh37
Build 36X106,996,193 - 106,996,416RGDNCBI36
CeleraX107,580,496 - 107,580,719RGD
Cytogenetic MapXq22.3UniSTS
HuRefX96,732,591 - 96,732,791UniSTS
SGC32037  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,137,838 - 107,137,973UniSTSGRCh37
Build 36X107,024,494 - 107,024,629RGDNCBI36
CeleraX107,608,797 - 107,608,932RGD
Cytogenetic MapXq22.3UniSTS
HuRefX96,760,509 - 96,760,644UniSTS
GeneMap99-GB4 RH MapX283.0UniSTS
Whitehead-RH MapX267.4UniSTS
RH36054  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,138,823 - 107,138,925UniSTSGRCh37
Build 36X107,025,479 - 107,025,581RGDNCBI36
CeleraX107,609,782 - 107,609,884RGD
Cytogenetic MapXq22.3UniSTS
HuRefX96,761,495 - 96,761,597UniSTS
GeneMap99-GB4 RH MapX283.41UniSTS
MID2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X107,084,027 - 107,084,320UniSTSGRCh37
CeleraX107,554,988 - 107,555,281UniSTS
HuRefX96,707,620 - 96,707,913UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:463
Count of miRNA genes:295
Interacting mature miRNAs:308
Transcripts:ENST00000262843, ENST00000443968, ENST00000451923, ENST00000474517
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 521 704 335 33 33 25 1838 412 147 85 445 534 17 432 1196
Low 1864 1736 1370 576 967 425 2476 1698 3412 327 993 1061 158 1 772 1592 3 2
Below cutoff 34 535 16 15 746 15 10 80 156 4 15 11

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052817 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF196481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL034399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL109946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY625004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC058011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN997921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y18880 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262843   ⟹   ENSP00000262843
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,825,879 - 107,927,193 (+)Ensembl
RefSeq Acc Id: ENST00000443968   ⟹   ENSP00000413976
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,826,414 - 107,927,193 (+)Ensembl
RefSeq Acc Id: ENST00000451923   ⟹   ENSP00000410730
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,825,755 - 107,841,381 (+)Ensembl
RefSeq Acc Id: ENST00000474517
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX107,917,502 - 107,926,472 (+)Ensembl
RefSeq Acc Id: NM_001382751   ⟹   NP_001369680
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,825,735 - 107,931,637 (+)NCBI
RefSeq Acc Id: NM_001382752   ⟹   NP_001369681
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,825,735 - 107,931,637 (+)NCBI
RefSeq Acc Id: NM_012216   ⟹   NP_036348
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,825,866 - 107,931,637 (+)NCBI
GRCh37X107,068,889 - 107,174,867 (+)NCBI
Build 36X106,956,116 - 107,057,077 (+)NCBI Archive
CeleraX107,540,045 - 107,645,826 (+)RGD
HuRefX96,692,632 - 96,797,758 (+)RGD
CHM1_1X106,979,937 - 107,085,716 (+)NCBI
Sequence:
RefSeq Acc Id: NM_052817   ⟹   NP_438112
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,825,866 - 107,931,637 (+)NCBI
GRCh37X107,068,889 - 107,174,867 (+)NCBI
Build 36X106,956,116 - 107,057,077 (+)NCBI Archive
CeleraX107,540,045 - 107,645,826 (+)RGD
HuRefX96,692,632 - 96,797,758 (+)RGD
CHM1_1X106,979,937 - 107,085,716 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036348   ⟸   NM_012216
- Peptide Label: isoform 1
- UniProtKB: Q9UJV3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_438112   ⟸   NM_052817
- Peptide Label: isoform 2
- UniProtKB: Q9UJV3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001369680   ⟸   NM_001382751
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001369681   ⟸   NM_001382752
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000410730   ⟸   ENST00000451923
RefSeq Acc Id: ENSP00000413976   ⟸   ENST00000443968
RefSeq Acc Id: ENSP00000262843   ⟸   ENST00000262843
Promoters
RGD ID:6809047
Promoter ID:HG_KWN:67714
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3
Transcripts:NM_012216,   NM_052817,   OTTHUMT00000057854
Position:
Human AssemblyChrPosition (strand)Source
Build 36X106,955,741 - 106,956,241 (+)MPROMDB
RGD ID:13627814
Promoter ID:EPDNEW_H29182
Type:initiation region
Name:MID2_2
Description:midline 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29183  EPDNEW_H29184  EPDNEW_H29185  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,825,739 - 107,825,799EPDNEW
RGD ID:13627816
Promoter ID:EPDNEW_H29183
Type:initiation region
Name:MID2_1
Description:midline 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29182  EPDNEW_H29184  EPDNEW_H29185  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,825,870 - 107,825,930EPDNEW
RGD ID:13627818
Promoter ID:EPDNEW_H29184
Type:initiation region
Name:MID2_4
Description:midline 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29182  EPDNEW_H29183  EPDNEW_H29185  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,826,095 - 107,826,155EPDNEW
RGD ID:13627820
Promoter ID:EPDNEW_H29185
Type:initiation region
Name:MID2_3
Description:midline 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29182  EPDNEW_H29183  EPDNEW_H29184  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X107,826,329 - 107,826,389EPDNEW

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
NM_012216.3(MID2):c.816+17908A>C single nucleotide variant Lung cancer [RCV000102163] ChrX:107872612 [GRCh38]
ChrX:107115842 [GRCh37]
ChrX:Xq22.3
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 Xp22.33-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:10679-156013167)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:10679-156022206)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)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 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 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 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
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 Xq22.1-22.3(chrX:102070552-108264804)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]|See cases [RCV000051716] ChrX:102070552..108264804 [GRCh38]
ChrX:101325524..107508034 [GRCh37]
ChrX:101212180..107394690 [NCBI36]
ChrX:Xq22.1-22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
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 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xq22.3(chrX:107523862-108265579)x3 copy number gain See cases [RCV000052443] ChrX:107523862..108265579 [GRCh38]
ChrX:106767092..107508809 [GRCh37]
ChrX:106653748..107395465 [NCBI36]
ChrX:Xq22.3
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
NM_012216.3(MID2):c.1793G>A (p.Gly598Asp) single nucleotide variant Malignant melanoma [RCV000073030] ChrX:107926289 [GRCh38]
ChrX:107169519 [GRCh37]
ChrX:107056175 [NCBI36]
ChrX:Xq22.3
not provided
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
NM_012216.4(MID2):c.1040G>A (p.Arg347Gln) single nucleotide variant Mental retardation, X-linked 101 [RCV000133396] ChrX:107905593 [GRCh38]
ChrX:107148823 [GRCh37]
ChrX:Xq22.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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: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)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 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 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 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 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: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-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 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 Xq22.1-23(chrX:100597687-111651116)x4 copy number gain See cases [RCV000136029] ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23
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 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 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 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 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 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 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 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 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 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
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 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 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 Xq21.32-23(chrX:93591590-112530092)x3 copy number gain See cases [RCV000139204] ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 copy number loss See cases [RCV000142372] ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23
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 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 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 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 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 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 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: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 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
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:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_012216.4(MID2):c.448G>T (p.Ala150Ser) single nucleotide variant Mental retardation, X-linked 101 [RCV000209907] ChrX:107841113 [GRCh38]
ChrX:107084343 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
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: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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-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 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: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 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
NM_012216.4(MID2):c.667C>T (p.Arg223Cys) single nucleotide variant not provided [RCV000487998] ChrX:107841332 [GRCh38]
ChrX:107084562 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-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: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 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
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: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 Xp22.33-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 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
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:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.3(chrX:107174285-107251728)x3 copy number gain See cases [RCV000446063] ChrX:107174285..107251728 [GRCh37]
ChrX:Xq22.3
uncertain significance
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:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..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:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)x2 copy number gain See cases [RCV000448592] ChrX:103158718..111556067 [GRCh37]
ChrX:Xq22.2-23
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_012216.4(MID2):c.1656T>C (p.Asp552=) single nucleotide variant not provided [RCV000919051]|not specified [RCV000503639] ChrX:107926152 [GRCh38]
ChrX:107169382 [GRCh37]
ChrX:Xq22.3
benign|uncertain significance
NM_012216.4(MID2):c.1428G>A (p.Ala476=) single nucleotide variant not specified [RCV000501858] ChrX:107917732 [GRCh38]
ChrX:107160962 [GRCh37]
ChrX:Xq22.3
benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_012216.4(MID2):c.2144G>A (p.Arg715Gln) single nucleotide variant not specified [RCV000502590] ChrX:107927009 [GRCh38]
ChrX:107170239 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_012216.4(MID2):c.758G>A (p.Arg253His) single nucleotide variant not specified [RCV000500262] ChrX:107854646 [GRCh38]
ChrX:107097876 [GRCh37]
ChrX:Xq22.3
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 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 copy number loss See cases [RCV000511514] ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23
pathogenic|uncertain significance
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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
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 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
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 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
NM_012216.4(MID2):c.720+17G>A single nucleotide variant not provided [RCV000514913] ChrX:107841402 [GRCh38]
ChrX:107084632 [GRCh37]
ChrX:Xq22.3
likely benign
NM_012216.3(MID2):c.1074-8delT deletion not provided [RCV000513751] ChrX:107915994 [GRCh38]
ChrX:107159224 [GRCh37]
ChrX:Xq22.3
benign|likely benign
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
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 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_012216.4(MID2):c.491G>A (p.Arg164His) single nucleotide variant Mental retardation, X-linked 101 [RCV000662211] ChrX:107841156 [GRCh38]
ChrX:107084386 [GRCh37]
ChrX:Xq22.3
uncertain significance
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 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
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 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:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_012216.4(MID2):c.582C>A (p.Thr194=) single nucleotide variant not provided [RCV000977319] ChrX:107841247 [GRCh38]
ChrX:107084477 [GRCh37]
ChrX:Xq22.3
benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_012216.4(MID2):c.1734T>C (p.Tyr578=) single nucleotide variant not provided [RCV000904397] ChrX:107926230 [GRCh38]
ChrX:107169460 [GRCh37]
ChrX:Xq22.3
likely benign
NM_012216.4(MID2):c.1757T>C (p.Ile586Thr) single nucleotide variant Esophageal atresia [RCV000984752] ChrX:107926253 [GRCh38]
ChrX:107169483 [GRCh37]
ChrX:Xq22.3
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 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_012216.4(MID2):c.490C>G (p.Arg164Gly) single nucleotide variant not provided [RCV000995995] ChrX:107841155 [GRCh38]
ChrX:107084385 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_012216.4(MID2):c.900C>T (p.Ile300=) single nucleotide variant not provided [RCV000980999] ChrX:107904041 [GRCh38]
ChrX:107147271 [GRCh37]
ChrX:Xq22.3
likely benign
NM_012216.4(MID2):c.1028A>G (p.Asn343Ser) single nucleotide variant not provided [RCV000904913] ChrX:107905581 [GRCh38]
ChrX:107148811 [GRCh37]
ChrX:Xq22.3
benign
NM_012216.4(MID2):c.1558G>A (p.Gly520Ser) single nucleotide variant Mental retardation, X-linked 101 [RCV000985072] ChrX:107924465 [GRCh38]
ChrX:107167695 [GRCh37]
ChrX:Xq22.3
likely pathogenic
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 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 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_012216.4(MID2):c.991G>A (p.Val331Ile) single nucleotide variant not provided [RCV000995996] ChrX:107905544 [GRCh38]
ChrX:107148774 [GRCh37]
ChrX:Xq22.3
uncertain significance
NM_012216.4(MID2):c.924+7C>T single nucleotide variant not provided [RCV000897259] ChrX:107904072 [GRCh38]
ChrX:107147302 [GRCh37]
ChrX:Xq22.3
benign
NM_012216.4(MID2):c.817-10T>G single nucleotide variant not provided [RCV000909626] ChrX:107903948 [GRCh38]
ChrX:107147178 [GRCh37]
ChrX:Xq22.3
likely benign
NM_012216.4(MID2):c.1602A>G (p.Gln534=) single nucleotide variant not provided [RCV000889332] ChrX:107926098 [GRCh38]
ChrX:107169328 [GRCh37]
ChrX:Xq22.3
benign
GRCh37/hg19 Xq22.3-23(chrX:105973323-110619655)x1 copy number loss not provided [RCV001007332] ChrX:105973323..110619655 [GRCh37]
ChrX:Xq22.3-23
likely pathogenic
NM_012216.4(MID2):c.1834G>T (p.Ala612Ser) single nucleotide variant not provided [RCV001063708] ChrX:107926699 [GRCh38]
ChrX:107169929 [GRCh37]
ChrX:Xq22.3
uncertain significance
NC_000023.11:g.(?_107628619)_(108696388_?)del deletion not provided [RCV001032756] ChrX:106871849..107939618 [GRCh37]
ChrX:Xq22.3
pathogenic
NM_012216.4(MID2):c.1447del (p.Ser483fs) deletion Mental retardation, X-linked 101 [RCV001009614] ChrX:107924353 [GRCh38]
ChrX:107167583 [GRCh37]
ChrX:Xq22.3
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 Xq22.3(chrX:106479615-107575960)x3 copy number gain not provided [RCV001259490] ChrX:106479615..107575960 [GRCh37]
ChrX:Xq22.3
uncertain significance
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
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
NM_012216.4(MID2):c.2070del (p.Phe691fs) deletion Mental retardation, X-linked 101 [RCV001352687] ChrX:107926935 [GRCh38]
ChrX:107170165 [GRCh37]
ChrX:Xq22.3
likely pathogenic
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:7096 AgrOrtholog
COSMIC MID2 COSMIC
Ensembl Genes ENSG00000080561 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000262843 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000410730 UniProtKB/TrEMBL
  ENSP00000413976 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000262843 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000443968 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000451923 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.920 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.60.40.10 UniProtKB/TrEMBL
  3.30.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000080561 GTEx
HGNC ID HGNC:7096 ENTREZGENE
Human Proteome Map MID2 Human Proteome Map
InterPro B30.2/SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  B30.2/SPRY_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Bbox_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Butyrophylin_SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ConA-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COS_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/TrEMBL
  MID2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Midline-1_COS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPRY/PRY_TRIM1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPRY_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf-RING_LisH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_B-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING/FYVE/PHD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_RING_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11043 UniProtKB/Swiss-Prot
NCBI Gene 11043 ENTREZGENE
OMIM 300204 OMIM
  300928 OMIM
PANTHER PTHR24099:SF12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam COS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  fn3 UniProtKB/TrEMBL
  SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-B_box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-RING_UBOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30817 PharmGKB
PRINTS BUTYPHLNCDUF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE B302_SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  COS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3 UniProtKB/TrEMBL
  ZF_BBOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_RING_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_RING_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BBOX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RING UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SPRY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6PVI4_HUMAN UniProtKB/TrEMBL
  Q6GX22_HUMAN UniProtKB/TrEMBL
  Q9UJV3 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NEL8 UniProtKB/Swiss-Prot
  A6PVI5 UniProtKB/Swiss-Prot
  Q5JYF5 UniProtKB/Swiss-Prot
  Q8WWK1 UniProtKB/Swiss-Prot
  Q9UJR9 UniProtKB/Swiss-Prot