RAI2 (retinoic acid induced 2) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: RAI2 (retinoic acid induced 2) Homo sapiens
Analyze
Symbol: RAI2
Name: retinoic acid induced 2
RGD ID: 1353493
HGNC Page HGNC
Description: Retinoic acid plays a critical role in development, cellular growth, and differentiation. The specific function of this retinoic acid-induced gene has not yet been determined but it may play a role in development. The chromosomal location of this gene designates it to be a candidate for diseases such as Nance-Horan syndrome, sensorineural deafness, non-specific X-linked cognitive disability, oral-facial-digital syndrome, and Fried syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: retinoic acid-induced protein 2
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 EnsemblX17,800,049 - 17,861,337 (-)EnsemblGRCh38hg38GRCh38
GRCh38X17,800,049 - 17,861,346 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X17,818,169 - 17,879,418 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X17,728,092 - 17,730,428 (-)NCBINCBI36hg18NCBI36
Build 34X17,577,827 - 17,580,164NCBI
CeleraX21,937,489 - 21,998,776 (-)NCBI
Cytogenetic MapXp22.13NCBI
HuRefX15,576,074 - 15,613,134 (-)NCBIHuRef
CHM1_1X17,848,557 - 17,909,841 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Dextrocardia  (IAGP)
Schizophrenia  (IAGP)
References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10049581   PMID:10394933   PMID:12477932   PMID:14702039   PMID:15370543   PMID:15489334   PMID:16189514   PMID:16344560   PMID:16713569   PMID:21832049   PMID:23275563   PMID:24722188  
PMID:25416956   PMID:25716347   PMID:25814554   PMID:28464487   PMID:29796120   PMID:29892012   PMID:31391242   PMID:31515488   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
RAI2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX17,800,049 - 17,861,337 (-)EnsemblGRCh38hg38GRCh38
GRCh38X17,800,049 - 17,861,346 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X17,818,169 - 17,879,418 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X17,728,092 - 17,730,428 (-)NCBINCBI36hg18NCBI36
Build 34X17,577,827 - 17,580,164NCBI
CeleraX21,937,489 - 21,998,776 (-)NCBI
Cytogenetic MapXp22.13NCBI
HuRefX15,576,074 - 15,613,134 (-)NCBIHuRef
CHM1_1X17,848,557 - 17,909,841 (-)NCBICHM1_1
Rai2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X160,500,032 - 160,562,490 (+)NCBIGRCm39mm39
GRCm39 EnsemblX160,500,065 - 160,562,492 (+)Ensembl
GRCm38X161,717,036 - 161,779,494 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX161,717,069 - 161,779,496 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X158,154,968 - 158,217,426 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X157,061,732 - 157,123,598 (+)NCBImm8
CeleraX144,950,885 - 145,013,085 (+)NCBICelera
Cytogenetic MapXF4NCBI
Rai2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X32,948,656 - 33,011,222 (-)NCBI
Rnor_6.0 EnsemblX34,731,891 - 34,794,589 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X34,731,891 - 34,794,589 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X35,074,629 - 35,135,655 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X53,778,991 - 53,810,359 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX33,239,204 - 33,298,772 (-)NCBICelera
Cytogenetic MapXq14NCBI
Rai2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955519494,463 - 553,839 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955519494,463 - 553,839 (+)NCBIChiLan1.0ChiLan1.0
RAI2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X17,791,701 - 17,936,223 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0X10,423,258 - 10,484,740 (-)NCBIMhudiblu_PPA_v0panPan3
RAI2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X13,871,795 - 14,021,908 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX13,723,958 - 14,112,454 (-)NCBI
ROS_Cfam_1.0X13,835,556 - 14,224,728 (-)NCBI
UMICH_Zoey_3.1X13,902,081 - 14,290,629 (-)NCBI
UNSW_CanFamBas_1.0X13,888,388 - 14,277,215 (-)NCBI
UU_Cfam_GSD_1.0X13,958,049 - 14,346,972 (-)NCBI
Rai2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X7,011,228 - 7,084,787 (-)NCBI
SpeTri2.0NW_0049364707,016,293 - 7,084,787 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RAI2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX14,244,279 - 14,309,143 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X14,246,776 - 14,633,071 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X15,343,447 - 15,545,694 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RAI2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X16,250,538 - 16,312,788 (-)NCBI
ChlSab1.1 EnsemblX16,250,911 - 16,252,503 (-)Ensembl
Rai2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248292,568,865 - 2,634,268 (-)NCBI

Position Markers
RH94025  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,818,391 - 17,818,580UniSTSGRCh37
Build 36X17,728,312 - 17,728,501RGDNCBI36
CeleraX21,937,711 - 21,937,900RGD
Cytogenetic MapXp22UniSTS
HuRefX15,576,296 - 15,576,485UniSTS
GeneMap99-GB4 RH MapX92.32UniSTS
SHGC-68610  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,863,240 - 17,863,344UniSTSGRCh37
Build 36X17,773,161 - 17,773,265RGDNCBI36
CeleraX21,982,559 - 21,982,663RGD
Cytogenetic MapXp22UniSTS
HuRefX15,620,454 - 15,620,558UniSTS
TNG Radiation Hybrid MapX5008.0UniSTS
SHGC-83987  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,840,796 - 17,841,066UniSTSGRCh37
Build 36X17,750,717 - 17,750,987RGDNCBI36
CeleraX21,960,117 - 21,960,387RGD
Cytogenetic MapXp22UniSTS
HuRefX15,598,082 - 15,598,352UniSTS
TNG Radiation Hybrid MapX5008.0UniSTS
RH36543  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,836,658 - 17,836,895UniSTSGRCh37
Build 36X17,746,579 - 17,746,816RGDNCBI36
CeleraX21,955,979 - 21,956,216RGD
Cytogenetic MapXp22UniSTS
HuRefX15,593,944 - 15,594,181UniSTS
GeneMap99-GB4 RH MapX92.32UniSTS
NCBI RH MapX10.0UniSTS
RAI2__5640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X17,818,168 - 17,818,857UniSTSGRCh37
Build 36X17,728,089 - 17,728,778RGDNCBI36
CeleraX21,937,488 - 21,938,177RGD
HuRefX15,576,073 - 15,576,762UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1320
Count of miRNA genes:304
Interacting mature miRNAs:360
Transcripts:ENST00000331511, ENST00000360011, ENST00000415486, ENST00000451717, ENST00000545871
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
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 2148 2040 1233 159 252 19 3320 1373 1602 273 1157 1350 142 1203 2130 1
Low 187 599 461 444 714 423 967 784 2077 113 248 128 24 1 1 658 2 2
Below cutoff 42 345 18 14 397 15 14 15 25 15 26 67 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_021785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF136587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI291859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL008711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CK902458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA377448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA648693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC420191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR005700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z93242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z93929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000331511   ⟹   ENSP00000333456
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX17,800,051 - 17,861,236 (-)Ensembl
RefSeq Acc Id: ENST00000360011   ⟹   ENSP00000353106
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX17,800,051 - 17,860,707 (-)Ensembl
RefSeq Acc Id: ENST00000415486   ⟹   ENSP00000392578
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX17,800,049 - 17,861,298 (-)Ensembl
RefSeq Acc Id: ENST00000451717   ⟹   ENSP00000401323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX17,800,049 - 17,861,298 (-)Ensembl
RefSeq Acc Id: ENST00000509491   ⟹   ENSP00000473562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX17,801,664 - 17,837,730 (-)Ensembl
RefSeq Acc Id: ENST00000545871   ⟹   ENSP00000444210
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX17,800,051 - 17,861,337 (-)Ensembl
RefSeq Acc Id: NM_001172732   ⟹   NP_001166203
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X17,800,049 - 17,861,298 (-)NCBI
GRCh37X17,818,169 - 17,879,457 (-)RGD
CeleraX21,937,489 - 21,998,776 (-)RGD
HuRefX15,576,074 - 15,613,134 (-)RGD
CHM1_1X17,848,557 - 17,909,841 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001172739   ⟹   NP_001166210
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X17,800,049 - 17,861,298 (-)NCBI
GRCh37X17,818,169 - 17,879,457 (-)RGD
CeleraX21,937,489 - 21,998,776 (-)RGD
HuRefX15,576,074 - 15,613,134 (-)RGD
CHM1_1X17,848,557 - 17,909,841 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001172743   ⟹   NP_001166214
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X17,800,049 - 17,861,298 (-)NCBI
GRCh37X17,818,169 - 17,879,457 (-)RGD
CeleraX21,937,489 - 21,998,776 (-)RGD
HuRefX15,576,074 - 15,613,134 (-)RGD
CHM1_1X17,848,557 - 17,909,841 (-)NCBI
Sequence:
RefSeq Acc Id: NM_021785   ⟹   NP_068557
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X17,800,049 - 17,861,298 (-)NCBI
GRCh37X17,818,169 - 17,879,457 (-)RGD
Build 36X17,728,092 - 17,730,428 (-)NCBI Archive
CeleraX21,937,489 - 21,998,776 (-)RGD
HuRefX15,576,074 - 15,613,134 (-)RGD
CHM1_1X17,848,557 - 17,909,841 (-)NCBI
Sequence:
RefSeq Acc Id: NR_033348
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X17,800,049 - 17,860,905 (-)NCBI
GRCh37X17,818,169 - 17,879,457 (-)RGD
CeleraX21,937,489 - 21,998,776 (-)RGD
HuRefX15,576,074 - 15,613,134 (-)RGD
CHM1_1X17,848,557 - 17,909,326 (-)NCBI
Sequence:
RefSeq Acc Id: NR_033349
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X17,800,049 - 17,860,905 (-)NCBI
GRCh37X17,818,169 - 17,879,457 (-)RGD
CeleraX21,937,489 - 21,998,776 (-)RGD
HuRefX15,576,074 - 15,613,134 (-)RGD
CHM1_1X17,848,557 - 17,909,326 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724459   ⟹   XP_006724522
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X17,800,049 - 17,861,346 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724460   ⟹   XP_006724523
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X17,800,049 - 17,861,291 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545439   ⟹   XP_011543741
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X17,800,049 - 17,860,789 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545440   ⟹   XP_011543742
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X17,800,049 - 17,860,789 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545441   ⟹   XP_011543743
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X17,800,049 - 17,860,789 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001166214   ⟸   NM_001172743
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001166210   ⟸   NM_001172739
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_068557   ⟸   NM_021785
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: NP_001166203   ⟸   NM_001172732
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: XP_006724522   ⟸   XM_006724459
- Peptide Label: isoform X1
- UniProtKB: Q9Y5P3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006724523   ⟸   XM_006724460
- Peptide Label: isoform X1
- UniProtKB: Q9Y5P3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543743   ⟸   XM_011545441
- Peptide Label: isoform X1
- UniProtKB: Q9Y5P3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543741   ⟸   XM_011545439
- Peptide Label: isoform X1
- UniProtKB: Q9Y5P3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543742   ⟸   XM_011545440
- Peptide Label: isoform X1
- UniProtKB: Q9Y5P3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000333456   ⟸   ENST00000331511
RefSeq Acc Id: ENSP00000401323   ⟸   ENST00000451717
RefSeq Acc Id: ENSP00000353106   ⟸   ENST00000360011
RefSeq Acc Id: ENSP00000444210   ⟸   ENST00000545871
RefSeq Acc Id: ENSP00000392578   ⟸   ENST00000415486
RefSeq Acc Id: ENSP00000473562   ⟸   ENST00000509491

Promoters
RGD ID:13604860
Promoter ID:EPDNEW_H28613
Type:initiation region
Name:RAI2_1
Description:retinoic acid induced 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X17,861,298 - 17,861,358EPDNEW

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: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 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.2-22.13(chrX:17167171-18804175)x1 copy number loss See cases [RCV000053060] ChrX:17167171..18804175 [GRCh38]
ChrX:17185294..18822293 [GRCh37]
ChrX:17095215..18732214 [NCBI36]
ChrX:Xp22.2-22.13
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12
uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2
pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-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 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-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 Xp22.2-22.13(chrX:15789793-18902428)x1 copy number loss See cases [RCV000141732] ChrX:15789793..18902428 [GRCh38]
ChrX:15807916..18920546 [GRCh37]
ChrX:15717837..18830467 [NCBI36]
ChrX:Xp22.2-22.13
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.2-22.12(chrX:12856740-19380317)x2 copy number gain See cases [RCV000143774] ChrX:12856740..19380317 [GRCh38]
ChrX:12874859..19398435 [GRCh37]
ChrX:12784780..19308356 [NCBI36]
ChrX:Xp22.2-22.12
likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
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 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-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:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
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 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-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 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 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2
pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.13(chrX:17674125-17991059)x2 copy number gain See cases [RCV000512183] ChrX:17674125..17991059 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1 copy number loss not provided [RCV000684182] ChrX:168546..18601364 [GRCh37]
ChrX:Xp22.33-22.13
pathogenic
GRCh37/hg19 Xp22.13(chrX:17557444-18142296)x3 copy number gain not provided [RCV000684283] ChrX:17557444..18142296 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3
pathogenic
NC_000023.10:g.(?_17393861)_(18671684_?)del deletion Early infantile epileptic encephalopathy 2 [RCV000708502] ChrX:17393861..18671684 [GRCh37]
ChrX:Xp22.13
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
46,XX,der(X)(p22.13,p22.13)dn.seq[GRCh37/hg19]der(X)(Xpter->Xp22.13(+)(18074005)::GCA...CAC{100}::p22.13(-)(18532312),p22.13(-)(17793009)::p22.13(+)(18248956)->Xqter)dn complex Hypoxic Ischemic Encephalopathy [RCV000714960] ChrX:17793009..18532312 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11
likely 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
NM_001172739.1(RAI2):c.773C>T (p.Ser258Phe) single nucleotide variant not provided [RCV000961789] ChrX:17801238 [GRCh38]
ChrX:17819358 [GRCh37]
ChrX:Xp22.13
benign
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12
pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1
pathogenic
NM_021785.5(RAI2):c.712G>A (p.Val238Ile) single nucleotide variant Dextrocardia [RCV000754896] ChrX:17801299 [GRCh38]
ChrX:17819419 [GRCh37]
ChrX:Xp22.13
uncertain significance
NM_001172739.1(RAI2):c.1002C>A (p.Pro334=) single nucleotide variant not provided [RCV000970764] ChrX:17801009 [GRCh38]
ChrX:17819129 [GRCh37]
ChrX:Xp22.13
benign
GRCh37/hg19 Xp22.2-22.12(chrX:16194993-20640014)x2 copy number gain not provided [RCV001007268] ChrX:16194993..20640014 [GRCh37]
ChrX:Xp22.2-22.12
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_001172739.1(RAI2):c.222G>A (p.Ala74=) single nucleotide variant not provided [RCV000901858] ChrX:17801789 [GRCh38]
ChrX:17819909 [GRCh37]
ChrX:Xp22.13
benign
NM_001172739.1(RAI2):c.813C>T (p.Phe271=) single nucleotide variant not provided [RCV000966275] ChrX:17801198 [GRCh38]
ChrX:17819318 [GRCh37]
ChrX:Xp22.13
benign
NM_001172739.1(RAI2):c.1263A>G (p.Glu421=) single nucleotide variant not provided [RCV000893069] ChrX:17800748 [GRCh38]
ChrX:17818868 [GRCh37]
ChrX:Xp22.13
benign
GRCh37/hg19 Xp22.13(chrX:17557444-19260546)x2 copy number gain not provided [RCV000849199] ChrX:17557444..19260546 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
NM_001172739.1(RAI2):c.1386C>T (p.Ser462=) single nucleotide variant not provided [RCV000916835] ChrX:17800625 [GRCh38]
ChrX:17818745 [GRCh37]
ChrX:Xp22.13
likely benign
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23
pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4
pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2 copy number gain not provided [RCV000846517] ChrX:15330714..21915234 [GRCh37]
ChrX:Xp22.2-22.11
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-22.13(chrX:15415636-18339030)x1 copy number loss not provided [RCV001007265] ChrX:15415636..18339030 [GRCh37]
ChrX:Xp22.2-22.13
uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11
pathogenic
NM_001172739.1(RAI2):c.531G>T (p.Pro177=) single nucleotide variant not provided [RCV000912916] ChrX:17801480 [GRCh38]
ChrX:17819600 [GRCh37]
ChrX:Xp22.13
likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NC_000023.10:g.(?_17393861)_(18671684_?)dup duplication Early infantile epileptic encephalopathy 2 [RCV001033299] ChrX:17393861..18671684 [GRCh37]
ChrX:Xp22.13
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NC_000023.10:g.(?_17393881)_(20284750_?)dup duplication Early infantile epileptic encephalopathy 2 [RCV001345684] ChrX:17393881..20284750 [GRCh37]
ChrX:Xp22.13-22.12
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9835 AgrOrtholog
COSMIC RAI2 COSMIC
Ensembl Genes ENSG00000131831 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000333456 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000353106 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000392578 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000401323 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000444210 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000473562 UniProtKB/TrEMBL
Ensembl Transcript ENST00000331511 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000360011 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000415486 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000451717 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000509491 UniProtKB/TrEMBL
  ENST00000545871 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000131831 GTEx
HGNC ID HGNC:9835 ENTREZGENE
Human Proteome Map RAI2 Human Proteome Map
InterPro RAI2/SOBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10742 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 10742 ENTREZGENE
OMIM 300217 OMIM
PANTHER PTHR23186 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SOBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34193 PharmGKB
UniProt A0A024RBZ8_HUMAN UniProtKB/TrEMBL
  B2RBE9_HUMAN UniProtKB/TrEMBL
  B3KPD7_HUMAN UniProtKB/TrEMBL
  Q9Y5P3 ENTREZGENE
  R4GNA9_HUMAN UniProtKB/TrEMBL
  RAI2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B1B1K2 UniProtKB/Swiss-Prot
  B4DQM9 UniProtKB/Swiss-Prot
  E7EMN4 UniProtKB/Swiss-Prot
  Q8N6X7 UniProtKB/Swiss-Prot