RBMX2 (RNA binding motif protein X-linked 2) - Rat Genome Database

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Gene: RBMX2 (RNA binding motif protein X-linked 2) Homo sapiens
Analyze
Symbol: RBMX2
Name: RNA binding motif protein X-linked 2
RGD ID: 1345969
HGNC Page HGNC:24282
Description: Enables RNA binding activity. Involved in mRNA splicing, via spliceosome. Located in nuclear membrane and nucleolus. Part of U2-type precatalytic spliceosome.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: 2810411A03Rik; CGI-79; RNA binding motif protein, X-linked 2; RNA-binding motif protein, X-linked 2; Snu17
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: RBMX2P1   RBMX2P2   RBMX2P3   RBMX2P4   RBMX2P5  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X130,401,987 - 130,413,656 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX130,401,922 - 130,462,404 (+)EnsemblGRCh38.p14 Ensemblhg38GRCh38
GRCh37X129,535,961 - 129,547,630 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X129,363,624 - 129,374,998 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34X129,261,758 - 129,273,163NCBI
CeleraX129,922,409 - 129,933,783 (+)NCBICelera
Cytogenetic MapXq26.1NCBI
HuRefX118,931,323 - 118,942,334 (+)NCBIHuRef
CHM1_1X129,447,576 - 129,458,950 (+)NCBICHM1_1
T2T-CHM13v2.0X128,721,817 - 128,733,484 (+)NCBIT2T-CHM13v2.0
JBrowse:




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
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:10810093   PMID:15302935   PMID:15489334   PMID:15772651   PMID:17081983   PMID:19322201   PMID:20360068   PMID:21873635   PMID:22365833   PMID:22658674   PMID:24981860   PMID:26186194  
PMID:26496610   PMID:27926873   PMID:28186131   PMID:28514442   PMID:29298432   PMID:29360106   PMID:29361316   PMID:29509190   PMID:30196744   PMID:30404004   PMID:30463901   PMID:30804502  
PMID:30940648   PMID:31076518   PMID:31527615   PMID:31586073   PMID:31744343   PMID:32296183   PMID:32538781   PMID:32807901   PMID:33301849   PMID:33306668   PMID:33438746   PMID:33509932  
PMID:33961781   PMID:34079125   PMID:34780483   PMID:34914762   PMID:35013218   PMID:35271311   PMID:35575683   PMID:35944360   PMID:36089195   PMID:36114006   PMID:36138187   PMID:36244648  
PMID:36574265   PMID:37689310   PMID:37794589   PMID:38697112   PMID:39068178   PMID:39207901   PMID:39251607   PMID:39522233   PMID:40178292   PMID:40205054   PMID:40671529   PMID:41249152  
PMID:41601259   PMID:41949541  


Genomics

Comparative Map Data
RBMX2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X130,401,987 - 130,413,656 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX130,401,922 - 130,462,404 (+)EnsemblGRCh38.p14 Ensemblhg38GRCh38
GRCh37X129,535,961 - 129,547,630 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X129,363,624 - 129,374,998 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34X129,261,758 - 129,273,163NCBI
CeleraX129,922,409 - 129,933,783 (+)NCBICelera
Cytogenetic MapXq26.1NCBI
HuRefX118,931,323 - 118,942,334 (+)NCBIHuRef
CHM1_1X129,447,576 - 129,458,950 (+)NCBICHM1_1
T2T-CHM13v2.0X128,721,817 - 128,733,484 (+)NCBIT2T-CHM13v2.0
Rbmx2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X47,783,881 - 47,799,596 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX47,783,877 - 47,799,600 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm38X48,695,004 - 48,710,719 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX48,695,004 - 48,710,723 (+)EnsemblGRCm38.p6 Ensemblmm10GRCm38
MGSCv37X46,048,181 - 46,063,896 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36X44,939,631 - 44,955,346 (+)NCBIMGSCv36mm8
CeleraX36,198,827 - 36,211,268 (+)NCBICelera
Cytogenetic MapXA5NCBI
cM MapX25.69NCBI
Rbmx2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X132,766,395 - 132,774,120 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 EnsemblX132,757,012 - 132,774,750 (+)EnsemblGRCr8
mRatBN7.2X127,888,514 - 127,896,239 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX127,888,438 - 127,896,869 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_UtxX130,014,285 - 130,022,027 (+)NCBIUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X133,585,048 - 133,592,773 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X131,111,456 - 131,119,198 (+)NCBIUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X135,550,931 - 135,558,440 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX135,550,834 - 135,558,440 (+)EnsemblRnor_6.0 Ensemblrn6Rnor6.0
Rnor_5.0X135,621,255 - 135,628,591 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4X135,113,789 - 135,121,414 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
CeleraX126,836,235 - 126,843,698 (+)NCBICelera
Cytogenetic MapXq36NCBI
Rbmx2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554734,654,748 - 4,664,590 (-)EnsemblChiLan1.0 Ensembl
ChiLan1.0NW_0049554734,654,257 - 4,664,419 (-)NCBIChiLan1.0ChiLan1.0
RBMX2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X129,822,590 - 129,833,670 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X129,826,204 - 129,837,284 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X119,528,923 - 119,540,319 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X129,820,864 - 129,831,902 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX129,820,864 - 129,831,902 (+)EnsemblPanPan1.1 EnsemblpanPan2panpan1.1
RBMX2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X101,533,732 - 101,547,147 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX101,533,835 - 101,544,552 (+)EnsemblCanFam3.1 EnsemblcanFam3CanFam3.1
Dog10K_Boxer_TashaX87,711,320 - 87,724,740 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.0X103,393,045 - 103,406,509 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX103,393,156 - 103,406,483 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X100,807,764 - 100,821,183 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X102,653,440 - 102,666,817 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X102,431,938 - 102,445,358 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Rbmx2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mIctTri1.hap1X21,139,926 - 21,157,067 (-)NCBImIctTri1.hap1
HiC_Itri_2X99,741,791 - 99,754,645 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364791,233,899 - 1,245,619 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049364791,232,921 - 1,245,665 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RBMX2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX106,880,912 - 106,890,390 (+)EnsemblSscrofa11.1 EnsemblsusScr11Sscrofa11.1
Sscrofa11.1X106,880,912 - 106,890,391 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
RBMX2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mChlSab1.0.hap1X23,381,952 - 23,393,102 (-)NCBImChlSab1.0.hap1
Vero_WHO_p1.0NW_02366606543,080,371 - 43,091,846 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
ChlSab1.1X105,660,294 - 105,671,417 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX105,660,614 - 105,670,921 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Rbmx2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247979,679,066 - 9,689,943 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
HetGla_female_1.0 EnsemblNW_0046247979,679,171 - 9,690,066 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
Naked mole-rat maternal EnsemblX23,201,463 - 23,218,272 (-)Ensembl
Rbmx2
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1X109,597,162 - 109,605,198 (-)NCBIRrattus_CSIRO_v1Rrattus_CSIRO_v1

Variants

.
Variants in RBMX2
27 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain Generalized hypotonia [RCV000133911] 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:Xp22.33-q28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000050810] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] 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:10679-156013167)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:Xp22.33-q28 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss Abnormality of head and neck [RCV000050699] ChrX:Xp22.33-q28 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss Global developmental delay [RCV000051160] ChrX:Xq23-28 pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:Xp11.21-q28 pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss Global developmental delay [RCV000051666] ChrX:Xq11.1-28 pathogenic
GRCh38/hg38 Xq25-28(chrX:126537861-155996431)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000051729] ChrX:Xq25-28 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss Short stature [RCV000051713] ChrX:Xq22.1-28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] 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 Global developmental delay [RCV000052324] 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 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3 copy number gain Global developmental delay [RCV000052445] ChrX:Xq25-28 pathogenic
GRCh38/hg38 Xq25-26.2(chrX:128395951-132383344)x2 copy number gain Malar flattening [RCV000052446] ChrX:Xq25-26.2 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss Sensorineural hearing impairment [RCV000133792] 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:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Intellectual disability [RCV000052986] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:Xq21.1-28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000134564] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000134570] ChrX:Xq21.1-28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss Encephalocele [RCV000133947] 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 Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000134025] ChrX:Xq11.1-28 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000135300] ChrX:Xp21.1-q28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000135321] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:Xq21.31-28 pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:Xq23-28 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000134958] ChrX:Xq13.2-28 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:Xp21.1-q28 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000135454] ChrX:Xq21.1-28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000136097] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss Craniosynostosis [RCV000136478] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:Xq21.33-28 pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:Xq23-28 pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000136095] ChrX:Xq25-28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000136005] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000136083] ChrX:Xq21.1-28 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss Generalized hypotonia [RCV000137113] ChrX:Xq13.3-28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain Talipes equinovarus [RCV000136841] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:Xq22.1-28 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000137553] ChrX:Xq11.1-28 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss Aplasia/hypoplasia of the extremities [RCV000137138] ChrX:Xq13.3-28 pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1 copy number loss Craniosynostosis [RCV000137167] ChrX:Xq25-28 pathogenic|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:Xq21.33-28 pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain Distal arthrogryposis [RCV000138145] ChrX:Xq23-27.1 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:Xq22.3-28 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss Gonadal dysgenesis [RCV000138787] ChrX:Xq21.1-28 pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:Xp22.2-q27.3 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss Premature ovarian insufficiency [RCV000138541] ChrX:Xq22.3-28 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000139400] ChrX:Xq21.1-28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss Short stature [RCV000139351] ChrX:Xq21.31-28 pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:Xq11.1-28 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain Autism [RCV000139888] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000141400] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000141401] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain Ptosis [RCV000140786] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss Fibrous dysplasia of the bones [RCV000140787] ChrX:Xp22.33-q28 pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss Short stature [RCV000141825] ChrX:Xq21.1-28 pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss Recurrent urinary tract infections [RCV000142016] ChrX:Xq21.31-28 pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss Feeding difficulties [RCV000141743] ChrX:Xq24-28 pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss Gonadal dysgenesis [RCV000142337] ChrX:Xq21.1-28 pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss Seizures [RCV000142137] ChrX:Xq24-28 pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss Hypertrophic cardiomyopathy [RCV000142037] ChrX:Xq21.2-28 pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000142190] ChrX:Xq22.3-28 pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:Xq23-28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss Delayed fine motor development [RCV000143424] ChrX:Xq13.2-28 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss Global developmental delay [RCV000143349] ChrX:Xp11.22-q28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000143441] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain Scoliosis [RCV000143433] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain Micrognathia [RCV000143219] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss Hemangioma [RCV000143132] ChrX:Xq13.3-28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain Upslanted palpebral fissure [RCV000148141] ChrX:Xp22.33-q28 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain Febrile seizures [RCV000240143] ChrX:Xq11.1-28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See Cases [RCV000240122] ChrX:Xp22.33-q28 pathogenic
NM_016024.4(RBMX2):c.860G>A (p.Arg287His) single nucleotide variant Malformation of Cortical Development [RCV000201403] ChrX:130412739 [GRCh38]
ChrX:129546713 [GRCh37]
ChrX:Xq26.1		 pathogenic|benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain Ventricular septal defect [RCV000239843] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See Cases [RCV000239832] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain Growth delay [RCV000239798] ChrX:Xp22.2-q28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain Polyhydramnios [RCV000239989] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See Cases [RCV000240106] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain Constipation [RCV000239874] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain Cleft palate [RCV000239934] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss Autism [RCV000239902] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See Cases [RCV000240314] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See Cases [RCV000240464] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See Cases [RCV000240148] ChrX:Xq11.1-28 pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1 copy number loss Macrocephaly [RCV000240337] ChrX:Xq25-28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain Global developmental delay [RCV000240541] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain Delayed speech and language development [RCV000240552] 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:Xp22.33-q28 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000449365] ChrX:Xq21.33-28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000446197] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000446667] 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 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [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 Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000445891] ChrX:Xq22.3-28 pathogenic
GRCh37/hg19 Xq25-26.2(chrX:126307810-131646710)x2 copy number gain See cases [RCV000448112] ChrX:126307810..131646710 [GRCh37]
ChrX:Xq25-26.2		 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 Xq25-28(chrX:126773628-155233731)x1 copy number loss See cases [RCV000448724] ChrX:126773628..155233731 [GRCh37]
ChrX:Xq25-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000448034] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:Xq13.2-27.1 pathogenic
GRCh37/hg19 Xq25-26.2(chrX:123108906-133026079)x3 copy number gain See cases [RCV000448069] ChrX:123108906..133026079 [GRCh37]
ChrX:Xq25-26.2		 likely 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
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss Abnormal facial shape [RCV000510382] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain Abnormality of toe [RCV000511787] ChrX:Xp11.21-q28 pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:Xp21.2-q28 pathogenic|uncertain significance
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss Abnormality of the aortic valve [RCV000511572] ChrX:Xq23-28 pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:Xq24-28 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:Xq21.1-28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain Short stature [RCV000512020] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:Xq21.31-28 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain Premature birth [RCV000511307] ChrX:Xp11.21-q28 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:Xq21.1-28 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain Short stature [RCV000510826] ChrX:Xp11.21-q28 pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain Primary amenorrhea [RCV000512365] ChrX:Xq21.33-28 uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:Xq22.1-28 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain Developmental delay AND/OR other significant developmental or morphological phenotypes [RCV000512173] ChrX:Xp11.21-q28 pathogenic
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1 copy number loss not provided [RCV000684387] ChrX:Xq25-26.3 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:Xq22.3-28 pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:Xq21.31-28 pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:Xq22.1-28 pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:Xq24-27.1 pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1 copy number loss not provided [RCV000684380] ChrX:Xq24-27.1 pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1 copy number loss not provided [RCV000684386] ChrX:Xq25-28 pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1 copy number loss not provided [RCV000849097] ChrX:Xq25-28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] 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:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 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)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1 copy number loss Premature ovarian insufficiency [RCV000852349] ChrX:122757437..155208244 [GRCh37]
ChrX:Xq25-28		 likely pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:Xp11.1-q28 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:Xp11.21-q28 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2 copy number gain not provided [RCV001007336] ChrX:Xq24-26.1 pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:Xq22.3-28 pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:Xq21.32-28 pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:Xq24-28 pathogenic
Single allele complex Menkes kinky-hair syndrome [RCV006700001] ChrX:69598084..155114089 [GRCh38]
ChrX:Xq13.1-28		 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:Xq21.1-28 pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214) copy number loss Intellectual disability [RCV001249592] ChrX:Xq25-28 likely pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:Xq21.1-28 pathogenic
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 copy number loss see cases [RCV002285075] ChrX:Xq21.1-28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain Hypotonia [RCV002280667] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain Atrial septal defect [RCV001263024] ChrX:Xp11.21-q28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 copy number loss not provided [RCV001259012] ChrX:Xq21.33-28 pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3 copy number gain not provided [RCV001259495] ChrX:Xq24-26.1 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain Hypoplastic aortic arch [RCV001281359] ChrX:Xp11.21-q28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:Xq11.1-28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xq25-26.2(chrX:126307810-131646710) copy number gain not specified [RCV002053180] ChrX:Xq25-26.2 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss see cases [RCV002286357] ChrX:Xp22.2-q28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:Xp22.33-q28 pathogenic
GRCh37/hg19 Xq26.1(chrX:129542798-130004339)x2 copy number gain not provided [RCV002472721] ChrX:Xq26.1 uncertain significance
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1 copy number loss not provided [RCV002474567] ChrX:Xq25-28 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:Xp22.33-q28 pathogenic
NM_016024.4(RBMX2):c.93G>C (p.Glu31Asp) single nucleotide variant not specified [RCV004117932] ChrX:130402342 [GRCh38]
ChrX:129536316 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.878G>A (p.Ser293Asn) single nucleotide variant not specified [RCV004152027] ChrX:130412757 [GRCh38]
ChrX:129546731 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xq26.1(chrX:129533578-130299562)x2 copy number gain not provided [RCV002475663] ChrX:Xq26.1 uncertain significance
NM_016024.4(RBMX2):c.280G>A (p.Val94Ile) single nucleotide variant not specified [RCV004108755] ChrX:130409363 [GRCh38]
ChrX:129543337 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.812G>A (p.Arg271Gln) single nucleotide variant not specified [RCV004236316] ChrX:130412691 [GRCh38]
ChrX:129546665 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.529C>T (p.Arg177Trp) single nucleotide variant not specified [RCV004603371] ChrX:130412408 [GRCh38]
ChrX:129546382 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xq26.1-26.3(chrX:128882432-134384406)x3 copy number gain not provided [RCV006436548] ChrX:Xq26.1-26.3 likely pathogenic
GRCh37/hg19 Xq13.1-27.1(chrX:71017904-140066710)x4 copy number gain not specified [RCV005628086] ChrX:Xq13.1-27.1 pathogenic
NM_016024.4(RBMX2):c.961C>T (p.Arg321Cys) single nucleotide variant not specified [RCV005476463] ChrX:130412840 [GRCh38]
ChrX:129546814 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.62G>A (p.Gly21Glu) single nucleotide variant not specified [RCV005476464] ChrX:130402311 [GRCh38]
ChrX:129536285 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.859C>T (p.Arg287Cys) single nucleotide variant not specified [RCV005476466] ChrX:130412738 [GRCh38]
ChrX:129546712 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.941C>G (p.Ser314Trp) single nucleotide variant not specified [RCV004257319] ChrX:130412820 [GRCh38]
ChrX:129546794 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xq23-28(chrX:113417246-155233731)x1 copy number loss not provided [RCV006436560] ChrX:Xq23-28 pathogenic
NM_016024.4(RBMX2):c.535G>A (p.Val179Ile) single nucleotide variant not specified [RCV005476465] ChrX:130412414 [GRCh38]
ChrX:129546388 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.122-2A>T single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006184237] ChrX:130403800 [GRCh38]
ChrX:129537774 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.301A>T (p.Lys101Ter) single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006184259] ChrX:130409384 [GRCh38]
ChrX:129543358 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.303+2T>G single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006184269] ChrX:130409388 [GRCh38]
ChrX:129543362 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.5+4A>C single nucleotide variant Gastric cancer [RCV006184234] ChrX:130402041 [GRCh38]
ChrX:129536015 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.173+4A>G single nucleotide variant Cervical cancer [RCV006184248] ChrX:130403857 [GRCh38]
ChrX:129537831 [GRCh37]
ChrX:Xq26.1		 evidence_only
GRCh37/hg19 Xq24-26.2(chrX:118228490-133002510)x3 copy number gain not specified [RCV005628085] ChrX:Xq24-26.2 pathogenic
NM_016024.4(RBMX2):c.304-253G>T single nucleotide variant Cervical cancer [RCV006184271] ChrX:130411095 [GRCh38]
ChrX:129545069 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.173+180G>A single nucleotide variant Familial cancer of breast [RCV006184249] ChrX:130404033 [GRCh38]
ChrX:129538007 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.159C>G (p.Ile53Met) single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006184243] ChrX:130403839 [GRCh38]
ChrX:129537813 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.171A>T (p.Ser57=) single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006184245] ChrX:130403851 [GRCh38]
ChrX:129537825 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.206G>A (p.Arg69Gln) single nucleotide variant Melanoma [RCV006184255] ChrX:130409289 [GRCh38]
ChrX:129543263 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.303G>T (p.Lys101Asn) single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006184262] ChrX:130409386 [GRCh38]
ChrX:129543360 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.304-13C>G single nucleotide variant Pancreatic adenocarcinoma [RCV006184272] ChrX:130411335 [GRCh38]
ChrX:129545309 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.481+2T>C single nucleotide variant Nonpapillary renal cell carcinoma [RCV006184278] ChrX:130411527 [GRCh38]
ChrX:129545501 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.338C>G (p.Ser113Cys) single nucleotide variant not specified [RCV006332622] ChrX:130411382 [GRCh38]
ChrX:129545356 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.124G>A (p.Gly42Arg) single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006184241] ChrX:130403804 [GRCh38]
ChrX:129537778 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.173+1G>T single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006184247] ChrX:130403854 [GRCh38]
ChrX:129537828 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.302A>T (p.Lys101Met) single nucleotide variant Nonpapillary renal cell carcinoma [RCV006184260] ChrX:130409385 [GRCh38]
ChrX:129543359 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.303+1G>T single nucleotide variant Nonpapillary renal cell carcinoma [RCV006184265] ChrX:130409387 [GRCh38]
ChrX:129543361 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.731A>G (p.Lys244Arg) single nucleotide variant not specified [RCV006305855] ChrX:130412610 [GRCh38]
ChrX:129546584 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.304-1G>T single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006184273] ChrX:130411347 [GRCh38]
ChrX:129545321 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.481+2T>G single nucleotide variant Nonpapillary renal cell carcinoma [RCV006184279] ChrX:130411527 [GRCh38]
ChrX:129545501 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.303+1G>C single nucleotide variant Nonpapillary renal cell carcinoma [RCV006184264] ChrX:130409387 [GRCh38]
ChrX:129543361 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.303+2T>A single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006184266] ChrX:130409388 [GRCh38]
ChrX:129543362 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.303+2T>C single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006184267] ChrX:130409388 [GRCh38]
ChrX:129543362 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.311G>T (p.Gly104Val) single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006184274] ChrX:130411355 [GRCh38]
ChrX:129545329 [GRCh37]
ChrX:Xq26.1		 evidence_only
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1 copy number loss not provided [RCV003483930] ChrX:Xq24-28 pathogenic
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1 copy number loss not provided [RCV003483929] ChrX:Xq24-28 pathogenic
GRCh37/hg19 Xq24-28(chrX:119395676-154930047) copy number loss not specified [RCV003986220] ChrX:Xq24-28 pathogenic
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731) copy number loss not specified [RCV003986202] ChrX:Xq22.2-28 pathogenic
GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1 copy number loss See cases [RCV004442781] ChrX:Xq25-28 pathogenic
NM_016024.4(RBMX2):c.470A>G (p.Lys157Arg) single nucleotide variant not specified [RCV004443412] ChrX:130411514 [GRCh38]
ChrX:129545488 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.589A>G (p.Lys197Glu) single nucleotide variant not specified [RCV004443413] ChrX:130412468 [GRCh38]
ChrX:129546442 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.837G>C (p.Trp279Cys) single nucleotide variant not specified [RCV004443415] ChrX:130412716 [GRCh38]
ChrX:129546690 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.839A>T (p.Tyr280Phe) single nucleotide variant not specified [RCV004443416] ChrX:130412718 [GRCh38]
ChrX:129546692 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 copy number gain not provided [RCV003885530] ChrX:Xq12-28 pathogenic
NM_016024.4(RBMX2):c.416G>A (p.Arg139His) single nucleotide variant not specified [RCV004660894] ChrX:130411460 [GRCh38]
ChrX:129545434 [GRCh37]
ChrX:Xq26.1		 likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:Xp22.33-q28 pathogenic
NM_016024.4(RBMX2):c.572G>A (p.Arg191His) single nucleotide variant not specified [RCV004660895] ChrX:130412451 [GRCh38]
ChrX:129546425 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NC_000023.10:g.(?_54610638)_(154689386_?)dup duplication Hemophilia A [RCV004768478] ChrX:Xp11.22-q28 uncertain significance
NM_016024.4(RBMX2):c.159C>A (p.Ile53=) single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006184242] ChrX:130403839 [GRCh38]
ChrX:129537813 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.174-9A>G single nucleotide variant Ovarian serous cystadenocarcinoma [RCV006184254] ChrX:130409248 [GRCh38]
ChrX:129543222 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.296G>T (p.Gly99Val) single nucleotide variant Nonpapillary renal cell carcinoma [RCV006184257] ChrX:130409379 [GRCh38]
ChrX:129543353 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.303+3G>T single nucleotide variant Lung cancer [RCV006184270] ChrX:130409389 [GRCh38]
ChrX:129543363 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.312A>T (p.Gly104=) single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006184275] ChrX:130411356 [GRCh38]
ChrX:129545330 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.481+2T>A single nucleotide variant Nonpapillary renal cell carcinoma [RCV006184276] ChrX:130411527 [GRCh38]
ChrX:129545501 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.271A>G (p.Ile91Val) single nucleotide variant not specified [RCV004862821] ChrX:130409354 [GRCh38]
ChrX:129543328 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.605C>T (p.Pro202Leu) single nucleotide variant not specified [RCV004862820] ChrX:130412484 [GRCh38]
ChrX:129546458 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xq21.32-26.1(chrX:92712119-129831493)x1 copy number loss not provided [RCV004819415] ChrX:Xq21.32-26.1 pathogenic
NM_016024.4(RBMX2):c.480A>C (p.Lys160Asn) single nucleotide variant not specified [RCV004854732] ChrX:130411524 [GRCh38]
ChrX:129545498 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.215A>G (p.Lys72Arg) single nucleotide variant not specified [RCV005714158] ChrX:130409298 [GRCh38]
ChrX:129543272 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.887G>A (p.Arg296Gln) single nucleotide variant not specified [RCV005727725] ChrX:130412766 [GRCh38]
ChrX:129546740 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.164T>A (p.Val55Glu) single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006184244] ChrX:130403844 [GRCh38]
ChrX:129537818 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.173+1G>A single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006184246] ChrX:130403854 [GRCh38]
ChrX:129537828 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.214A>T (p.Lys72Ter) single nucleotide variant Nonpapillary renal cell carcinoma [RCV006184256] ChrX:130409297 [GRCh38]
ChrX:129543271 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.303+1G>A single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006184263] ChrX:130409387 [GRCh38]
ChrX:129543361 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.748G>A (p.Glu250Lys) single nucleotide variant not specified [RCV005727724] ChrX:130412627 [GRCh38]
ChrX:129546601 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.6C>T (p.Asn2=) single nucleotide variant not specified [RCV004357726] ChrX:130402255 [GRCh38]
ChrX:129536229 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016024.4(RBMX2):c.604C>T (p.Pro202Ser) single nucleotide variant not specified [RCV004443414] ChrX:130412483 [GRCh38]
ChrX:129546457 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016024.4(RBMX2):c.932G>A (p.Arg311Gln) single nucleotide variant not specified [RCV004443417] ChrX:130412811 [GRCh38]
ChrX:129546785 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.941C>T (p.Ser314Leu) single nucleotide variant not specified [RCV004443418] ChrX:130412820 [GRCh38]
ChrX:129546794 [GRCh37]
ChrX:Xq26.1		 uncertain significance
GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1 copy number loss not provided [RCV004442761] ChrX:Xq25-28 pathogenic
NM_016024.4(RBMX2):c.847C>T (p.Arg283Cys) single nucleotide variant not specified [RCV004660893] ChrX:130412726 [GRCh38]
ChrX:129546700 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.36G>C (p.Glu12Asp) single nucleotide variant not specified [RCV004671730] ChrX:130402285 [GRCh38]
ChrX:129536259 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.70G>T (p.Asp24Tyr) single nucleotide variant not specified [RCV004854733] ChrX:130402319 [GRCh38]
ChrX:129536293 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.259C>A (p.Gln87Lys) single nucleotide variant not specified [RCV005259767] ChrX:130409342 [GRCh38]
ChrX:129543316 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.911G>A (p.Arg304Lys) single nucleotide variant not specified [RCV005259768] ChrX:130412790 [GRCh38]
ChrX:129546764 [GRCh37]
ChrX:Xq26.1		 likely benign
NM_016024.4(RBMX2):c.925C>T (p.Arg309Trp) single nucleotide variant not specified [RCV005259765] ChrX:130412804 [GRCh38]
ChrX:129546778 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.955C>T (p.Arg319Cys) single nucleotide variant not specified [RCV005259766] ChrX:130412834 [GRCh38]
ChrX:129546808 [GRCh37]
ChrX:Xq26.1		 uncertain significance
NM_016024.4(RBMX2):c.122-2A>G single nucleotide variant Nonpapillary renal cell carcinoma [RCV006184235] ChrX:130403800 [GRCh38]
ChrX:129537774 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.122G>A (p.Gly41Glu) single nucleotide variant Nonpapillary renal cell carcinoma [RCV006184238] ChrX:130403802 [GRCh38]
ChrX:129537776 [GRCh37]
ChrX:Xq26.1		 evidence_only
NM_016024.4(RBMX2):c.122G>C (p.Gly41Ala) single nucleotide variant Thyroid cancer, nonmedullary, 1 [RCV006184240] ChrX:130403802 [GRCh38]
ChrX:129537776 [GRCh37]
ChrX:Xq26.1		 evidence_only
GRCh38/hg38 Xq21.31-28(chrX:89027698-156040895)x1 copy number loss See cases [RCV006699098] ChrX:Xq21.31-28 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61882086-155233731)x3 copy number gain not specified [RCV006697326] ChrX:Xq11.1-28 pathogenic
GRCh37/hg19 Xq22.3-27.3(chrX:104934413-146443698)x1 copy number loss not specified [RCV006697149] ChrX:Xq22.3-27.3 pathogenic
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1462
Count of miRNA genes:806
Interacting mature miRNAs:930
Transcripts:ENST00000305536, ENST00000370947, ENST00000469953, ENST00000487274
Prediction methods:Microtar, Miranda, Pita, Pita,Microtar, 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.

Markers in Region
DXS8291  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,536,957 - 129,537,129UniSTSGRCh37
GRCh37X129,536,970 - 129,537,076UniSTSGRCh37
Build 36X129,364,651 - 129,364,757RGDNCBI36
CeleraX129,923,436 - 129,923,542RGD
CeleraX129,923,423 - 129,923,595UniSTS
Cytogenetic MapXq26.1UniSTS
HuRefX118,932,350 - 118,932,456UniSTS
HuRefX118,932,337 - 118,932,509UniSTS
RH103383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,547,006 - 129,547,173UniSTSGRCh37
Build 36X129,374,687 - 129,374,854RGDNCBI36
CeleraX129,933,472 - 129,933,639RGD
Cytogenetic MapXq26.1UniSTS
HuRefX118,942,023 - 118,942,190UniSTS
GeneMap99-GB4 RH MapX304.92UniSTS
RBMX2__6968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,546,943 - 129,547,633UniSTSGRCh37
Build 36X129,374,624 - 129,375,314RGDNCBI36
CeleraX129,933,409 - 129,934,099RGD
HuRefX118,941,960 - 118,942,650UniSTS
AL008949  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,536,436 - 129,536,574UniSTSGRCh37
Build 36X129,364,117 - 129,364,255RGDNCBI36
CeleraX129,922,902 - 129,923,040RGD
Cytogenetic MapXq26.1UniSTS
HuRefX118,931,816 - 118,931,954UniSTS
STS-AA025315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X129,547,059 - 129,547,270UniSTSGRCh37
Build 36X129,374,740 - 129,374,951RGDNCBI36
CeleraX129,933,525 - 129,933,736RGD
Cytogenetic MapXq26.1UniSTS
HuRefX118,942,076 - 118,942,287UniSTS
GeneMap99-GB4 RH MapX304.92UniSTS
DXS8291  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq26.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_054894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA905143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF078865 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF151837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL035423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL050405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC003676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010036 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033750 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC105582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY112998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000305536   ⟹   ENSP00000339090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX130,401,987 - 130,413,656 (+)Ensembl
Ensembl Acc Id: ENST00000370947   ⟹   ENSP00000359985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX130,401,922 - 130,404,450 (+)Ensembl
Ensembl Acc Id: ENST00000469953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX130,402,001 - 130,411,524 (+)Ensembl
Ensembl Acc Id: ENST00000487274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX130,411,203 - 130,412,395 (+)Ensembl
Ensembl Acc Id: ENST00000639890   ⟹   ENSP00000491200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX130,402,253 - 130,412,752 (+)Ensembl
Ensembl Acc Id: ENST00000919759   ⟹   ENSP00000589818
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX130,401,922 - 130,415,286 (+)Ensembl
Ensembl Acc Id: ENST00001079916   ⟹   ENSP00000749722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX130,401,938 - 130,413,355 (+)Ensembl
Ensembl Acc Id: ENST00001079917   ⟹   ENSP00000749723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX130,401,937 - 130,413,343 (+)Ensembl
Ensembl Acc Id: ENST00001098281   ⟹   ENSP00000768087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX130,401,988 - 130,462,404 (+)Ensembl
Ensembl Acc Id: ENST00001133163   ⟹   ENSP00000807771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX130,401,922 - 130,415,286 (+)Ensembl
RefSeq Acc Id: NM_016024   ⟹   NP_057108
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,401,987 - 130,413,656 (+)NCBI
GRCh37X129,535,943 - 129,547,317 (+)RGD
Build 36X129,363,624 - 129,374,998 (+)NCBI Archive
CeleraX129,922,409 - 129,933,783 (+)RGD
HuRefX118,931,323 - 118,942,334 (+)RGD
CHM1_1X129,447,576 - 129,458,950 (+)NCBI
T2T-CHM13v2.0X128,721,817 - 128,733,484 (+)NCBI
Sequence:
RefSeq Acc Id: NP_057108   ⟸   NM_016024
- UniProtKB: Q5JY82 (UniProtKB/Swiss-Prot),   A8K9Z0 (UniProtKB/Swiss-Prot),   Q9Y3I8 (UniProtKB/Swiss-Prot),   Q9Y388 (UniProtKB/Swiss-Prot),   A0ACI8T052 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000359985   ⟸   ENST00000370947
Ensembl Acc Id: ENSP00000491200   ⟸   ENST00000639890
Ensembl Acc Id: ENSP00000339090   ⟸   ENST00000305536
Ensembl Acc Id: ENSP00000589818   ⟸   ENST00000919759
Ensembl Acc Id: ENSP00000768087   ⟸   ENST00001098281
Ensembl Acc Id: ENSP00000807771   ⟸   ENST00001133163
Ensembl Acc Id: ENSP00000749722   ⟸   ENST00001079916
Ensembl Acc Id: ENSP00000749723   ⟸   ENST00001079917
Protein Domains
RRM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y388-F1-model_v2 AlphaFold Q9Y388 1-322 view protein structure

Promoters
RGD ID:6808725
Promoter ID:HG_KWN:68039
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000370947,   NM_016024,   OTTHUMT00000058266
Position:
Human AssemblyChrPosition (strand)Source
Build 36X129,363,319 - 129,363,819 (+)MPROMDB
RGD ID:13628102
Promoter ID:EPDNEW_H29326
Type:initiation region
Name:RBMX2_1
Description:RNA binding motif protein, X-linked 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X130,401,987 - 130,402,047EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24282 AgrOrtholog
COSMIC RBMX2 COSMIC
Ensembl Genes ENSG00000134597 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000305536 ENTREZGENE
  ENST00000305536.11 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot
GTEx ENSG00000134597 GTEx
HGNC ID HGNC:24282 ENTREZGENE
Human Proteome Map RBMX2 Human Proteome Map
InterPro Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot
  RBD_domain_sf UniProtKB/Swiss-Prot
  RNA_proc/Spliceosome_comp UniProtKB/Swiss-Prot
  RRM_dom UniProtKB/Swiss-Prot
  RRM_Ist3_like UniProtKB/Swiss-Prot
KEGG Report hsa:51634 UniProtKB/Swiss-Prot
NCBI Gene 51634 ENTREZGENE
OMIM 301162 OMIM
PANTHER RNA-BINDING MOTIF PROTEIN, X-LINKED 2 UniProtKB/Swiss-Prot
  RNA-BINDING MOTIF PROTEIN, X-LINKED 2 UniProtKB/Swiss-Prot
Pfam RRM_1 UniProtKB/Swiss-Prot
PharmGKB PA134872051 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot
SMART RRM UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot
UniProt A0ACI8T052 ENTREZGENE, UniProtKB/TrEMBL
  A8K9Z0 ENTREZGENE
  Q05DU0_HUMAN UniProtKB/TrEMBL
  Q0VGM7_HUMAN UniProtKB/TrEMBL
  Q5JY82 ENTREZGENE
  Q5JY83_HUMAN UniProtKB/TrEMBL
  Q9Y388 ENTREZGENE
  Q9Y3I8 ENTREZGENE
  RBMX2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K9Z0 UniProtKB/Swiss-Prot
  Q5JY82 UniProtKB/Swiss-Prot
  Q9Y3I8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-05-01 RBMX2  RNA binding motif protein X-linked 2    RNA binding motif protein, X-linked 2  Symbol and/or name change 5135510 APPROVED