BRWD3 (bromodomain and WD repeat domain containing 3) - Rat Genome Database

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Gene: BRWD3 (bromodomain and WD repeat domain containing 3) Homo sapiens
Analyze
Symbol: BRWD3
Name: bromodomain and WD repeat domain containing 3
RGD ID: 1354337
HGNC Page HGNC
Description: Involved in cytoskeleton organization and regulation of cell shape. Predicted to localize to nucleus. Implicated in non-syndromic X-linked intellectual disability 93.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BRODL; bromo domain-containing protein disrupted in leukemia; bromodomain and WD repeat-containing protein 3; FLJ33254; FLJ38568; MRX93; novel WD repeat domain protein
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 EnsemblX80,669,503 - 80,809,877 (-)EnsemblGRCh38hg38GRCh38
GRCh38X80,669,503 - 80,809,877 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X79,925,002 - 80,065,376 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X79,818,339 - 79,951,889 (-)NCBINCBI36hg18NCBI36
Build 34X79,737,839 - 79,871,378NCBI
CeleraX80,165,105 - 80,305,366 (-)NCBI
Cytogenetic MapXq21.1NCBI
HuRefX73,504,976 - 73,645,667 (-)NCBIHuRef
CHM1_1X79,818,407 - 79,958,670 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
nucleus  (IBA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15489334   PMID:15543602   PMID:15772651   PMID:16094372   PMID:17081983   PMID:17668385   PMID:18775313   PMID:19377476   PMID:21834987   PMID:21873635  
PMID:22024541   PMID:24462886   PMID:26344197   PMID:26389662   PMID:26496610   PMID:26760575   PMID:28514442   PMID:28611215   PMID:29166413   PMID:29507755   PMID:31753913  


Genomics

Comparative Map Data
BRWD3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX80,669,503 - 80,809,877 (-)EnsemblGRCh38hg38GRCh38
GRCh38X80,669,503 - 80,809,877 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X79,925,002 - 80,065,376 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X79,818,339 - 79,951,889 (-)NCBINCBI36hg18NCBI36
Build 34X79,737,839 - 79,871,378NCBI
CeleraX80,165,105 - 80,305,366 (-)NCBI
Cytogenetic MapXq21.1NCBI
HuRefX73,504,976 - 73,645,667 (-)NCBIHuRef
CHM1_1X79,818,407 - 79,958,670 (-)NCBICHM1_1
Brwd3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X107,779,451 - 107,877,965 (-)NCBIGRCm39mm39
GRCm39 EnsemblX107,780,622 - 107,877,978 (-)Ensembl
GRCm38X108,735,845 - 108,834,362 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX108,737,016 - 108,834,372 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X105,937,547 - 106,029,694 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X104,944,927 - 105,037,074 (-)NCBImm8
MGSCv36X91,575,694 - 91,668,115 (-)NCBImm8
CeleraX95,567,363 - 95,660,152 (-)NCBICelera
Cytogenetic MapXDNCBI
Brwd3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X73,768,343 - 73,861,643 (-)NCBI
Rnor_6.0 EnsemblX79,824,782 - 79,909,678 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X79,817,968 - 79,909,891 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X79,993,004 - 80,086,950 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X97,008,947 - 97,131,275 (-)NCBIRGSC3.4rn4RGSC3.4
CeleraX75,044,717 - 75,138,705 (-)NCBICelera
Cytogenetic MapXq22NCBI
Brwd3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955529842,940 - 992,413 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955529834,459 - 992,259 (-)NCBIChiLan1.0ChiLan1.0
BRWD3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X79,827,183 - 79,964,187 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX79,832,517 - 79,964,187 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X69,718,532 - 69,857,507 (-)NCBIMhudiblu_PPA_v0panPan3
BRWD3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X62,004,536 - 62,180,260 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX62,009,435 - 62,179,956 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX52,749,528 - 52,925,782 (-)NCBI
ROS_Cfam_1.0X63,311,385 - 63,487,614 (-)NCBI
UMICH_Zoey_3.1X60,945,168 - 61,146,587 (-)NCBI
UNSW_CanFamBas_1.0X62,580,536 - 62,781,886 (-)NCBI
UU_Cfam_GSD_1.0X62,177,470 - 62,353,713 (-)NCBI
Brwd3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X55,915,743 - 56,034,259 (-)NCBI
SpeTri2.0NW_0049365472,236,164 - 2,354,652 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BRWD3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX64,241,620 - 64,403,844 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X64,239,640 - 64,403,889 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X73,859,571 - 74,026,517 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BRWD3
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X69,631,806 - 69,769,180 (-)NCBI
ChlSab1.1 EnsemblX69,636,927 - 69,769,267 (-)Ensembl
Vero_WHO_p1.0NW_02366606711,471,542 - 11,605,434 (+)NCBI
Brwd3
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624836266,694 - 492,028 (+)NCBI

Position Markers
RH38736  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X79,966,091 - 79,966,222UniSTSGRCh37
Build 36X79,852,747 - 79,852,878RGDNCBI36
CeleraX80,206,198 - 80,206,329RGD
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map11p15.1UniSTS
HuRefX73,546,243 - 73,546,374UniSTS
GeneMap99-GB4 RH MapX253.42UniSTS
SHGC-152486  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372017,963,680 - 17,963,946UniSTSGRCh37
GRCh37X80,006,356 - 80,006,628UniSTSGRCh37
Build 36X79,893,012 - 79,893,284RGDNCBI36
CeleraX80,246,487 - 80,246,759RGD
Celera2018,038,227 - 18,038,493UniSTS
Cytogenetic MapXq21.1UniSTS
HuRefX73,586,965 - 73,587,235UniSTS
HuRef2017,926,586 - 17,926,852UniSTS
TNG Radiation Hybrid Map634010.0UniSTS
BRODL__4276  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X79,931,555 - 79,932,229UniSTSGRCh37
Build 36X79,818,211 - 79,818,885RGDNCBI36
CeleraX80,171,673 - 80,172,343RGD
HuRefX73,511,952 - 73,512,622UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4657
Count of miRNA genes:1356
Interacting mature miRNAs:1751
Transcripts:ENST00000373275, ENST00000473691, ENST00000478415, ENST00000487313, ENST00000497335
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 113 90 130 17 591 19 578 48 259 52 309 309 7 25 270 3
Low 2325 2828 1588 599 1352 438 3765 2074 3392 366 1151 1303 168 1 1178 2505 2 2
Below cutoff 73 6 6 8 6 14 75 83 1 1 1 13

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005262113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_430519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA716141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK090573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL669934 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY497046 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY497047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY497048 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY497049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY497050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY497051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY497052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY497053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY497054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY497055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY497056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY497057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY497058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY497059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY497060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI825932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB269573 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000373275   ⟹   ENSP00000362372
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX80,669,503 - 80,809,877 (-)Ensembl
RefSeq Acc Id: ENST00000473691
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX80,677,245 - 80,722,573 (-)Ensembl
RefSeq Acc Id: ENST00000478415
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX80,743,707 - 80,809,683 (-)Ensembl
RefSeq Acc Id: ENST00000487313
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX80,733,158 - 80,734,145 (-)Ensembl
RefSeq Acc Id: ENST00000497335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX80,716,883 - 80,719,570 (-)Ensembl
RefSeq Acc Id: NM_153252   ⟹   NP_694984
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X80,669,503 - 80,809,877 (-)NCBI
GRCh37X79,924,987 - 80,065,233 (-)NCBI
Build 36X79,818,339 - 79,951,889 (-)NCBI Archive
CeleraX80,165,105 - 80,305,366 (-)RGD
HuRefX73,504,976 - 73,645,667 (-)RGD
CHM1_1X79,818,407 - 79,958,670 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005262113   ⟹   XP_005262170
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X80,669,506 - 80,809,736 (-)NCBI
GRCh37X79,924,987 - 80,065,233 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029384   ⟹   XP_016884873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X80,676,386 - 80,791,952 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017029385   ⟹   XP_016884874
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X80,704,772 - 80,809,736 (-)NCBI
Sequence:
RefSeq Acc Id: XR_430519
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X80,677,245 - 80,809,736 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_694984   ⟸   NM_153252
- Sequence:
RefSeq Acc Id: XP_005262170   ⟸   XM_005262113
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016884873   ⟸   XM_017029384
- Peptide Label: isoform X2
- UniProtKB: Q6RI45 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016884874   ⟸   XM_017029385
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000362372   ⟸   ENST00000373275
Protein Domains
Bromo

Promoters
RGD ID:6808548
Promoter ID:HG_KWN:67364
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat
Transcripts:OTTHUMT00000057348
Position:
Human AssemblyChrPosition (strand)Source
Build 36X79,876,826 - 79,877,326 (-)MPROMDB
RGD ID:6808549
Promoter ID:HG_KWN:67365
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC004EDO.2,   UC004EDP.2,   UC004EDQ.2,   UC004EDR.2,   UC004EDS.2,   UC010NMJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X79,950,826 - 79,951,326 (-)MPROMDB
RGD ID:6808546
Promoter ID:HG_KWN:67366
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_153252,   OTTHUMT00000057345,   UC004EDU.2,   UC004EDV.2,   UC004EDW.2,   UC004EDX.2,   UC004EDY.2,   UC004EDZ.2,   UC004EEA.2,   UC004EEB.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36X79,951,696 - 79,952,407 (-)MPROMDB
RGD ID:13627534
Promoter ID:EPDNEW_H29042
Type:initiation region
Name:BRWD3_1
Description:bromodomain and WD repeat domain containing 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29043  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X80,809,720 - 80,809,780EPDNEW
RGD ID:13627536
Promoter ID:EPDNEW_H29043
Type:initiation region
Name:BRWD3_2
Description:bromodomain and WD repeat domain containing 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29042  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X80,809,834 - 80,809,894EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_153252.5(BRWD3):c.2553-3C>G single nucleotide variant not provided [RCV000522144] ChrX:80704849 [GRCh38]
ChrX:79960348 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_153252.5(BRWD3):c.3325+1G>T single nucleotide variant Mental retardation, X-linked 93 [RCV000011549] ChrX:80692088 [GRCh38]
ChrX:79947587 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_153252.5(BRWD3):c.946dup (p.Arg316fs) duplication Mental retardation, X-linked 93 [RCV000011550] ChrX:80735165..80735166 [GRCh38]
ChrX:79990664..79990665 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_153252.5(BRWD3):c.4786A>G (p.Lys1596Glu) single nucleotide variant Mental retardation, X-linked 93 [RCV000011551] ChrX:80677232 [GRCh38]
ChrX:79932731 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_153252.5(BRWD3):c.986-9A>G single nucleotide variant not provided [RCV000579312] ChrX:80734227 [GRCh38]
ChrX:79989726 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.4(BRWD3):c.1876+303A>T single nucleotide variant Lung cancer [RCV000102815] ChrX:80722259 [GRCh38]
ChrX:79977758 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.4(BRWD3):c.985+341C>T single nucleotide variant Lung cancer [RCV000102816] ChrX:80734786 [GRCh38]
ChrX:79990285 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq21.1-21.31(chrX:79372269-91308122)x1 copy number loss See cases [RCV000050772] ChrX:79372269..91308122 [GRCh38]
ChrX:78627766..90563121 [GRCh37]
ChrX:78514422..90449777 [NCBI36]
ChrX:Xq21.1-21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 copy number loss See cases [RCV000051668] ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23
pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:80329330-86150446)x1 copy number loss See cases [RCV000051670] ChrX:80329330..86150446 [GRCh38]
ChrX:79584829..85405450 [GRCh37]
ChrX:79471485..85292106 [NCBI36]
ChrX:Xq21.1-21.2
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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-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-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 Xq21.1(chrX:80629216-80762500)x2 copy number gain See cases [RCV000054214] ChrX:80629216..80762500 [GRCh38]
ChrX:79884715..80017999 [GRCh37]
ChrX:79771371..79904655 [NCBI36]
ChrX:Xq21.1
uncertain significance
GRCh38/hg38 Xq21.1(chrX:80629216-81630346)x3 copy number gain See cases [RCV000054215] ChrX:80629216..81630346 [GRCh38]
ChrX:79884715..80885845 [GRCh37]
ChrX:79771371..80772501 [NCBI36]
ChrX:Xq21.1
uncertain significance
NM_153252.4(BRWD3):c.4736C>T (p.Ser1579Leu) single nucleotide variant Malignant melanoma [RCV000073258] ChrX:80677282 [GRCh38]
ChrX:79932781 [GRCh37]
ChrX:79819437 [NCBI36]
ChrX:Xq21.1
not provided
NM_153252.5(BRWD3):c.4377A>G (p.Leu1459=) single nucleotide variant not provided [RCV000082670] ChrX:80682485 [GRCh38]
ChrX:79937984 [GRCh37]
ChrX:Xq21.1
conflicting interpretations of pathogenicity|uncertain significance
NM_153252.5(BRWD3):c.813+10G>C single nucleotide variant Mental retardation, X-linked 93 [RCV000327216]|not specified [RCV000082671] ChrX:80744022 [GRCh38]
ChrX:79999521 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_153252.5(BRWD3):c.5100T>C (p.Gly1700=) single nucleotide variant History of neurodevelopmental disorder [RCV000716405]|Mental retardation, X-linked 93 [RCV000399425]|not provided [RCV000951362]|not specified [RCV000116503] ChrX:80676918 [GRCh38]
ChrX:79932417 [GRCh37]
ChrX:Xq21.1
benign|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_153252.5(BRWD3):c.33G>A (p.Glu11=) single nucleotide variant History of neurodevelopmental disorder [RCV000718043]|Mental retardation, X-linked 93 [RCV000277974]|not provided [RCV000973061]|not specified [RCV000175993] ChrX:80809303 [GRCh38]
ChrX:80064802 [GRCh37]
ChrX:Xq21.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) single nucleotide variant Mental retardation, X-linked 93 [RCV001166166]|not provided [RCV000514166]|not specified [RCV000180381] ChrX:80744076 [GRCh38]
ChrX:79999575 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_153252.5(BRWD3):c.814-16dup duplication not specified [RCV000180706] ChrX:80736091..80736092 [GRCh38]
ChrX:79991590..79991591 [GRCh37]
ChrX:Xq21.1
benign
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 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 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq21.1(chrX:80659978-80734149)x2 copy number gain See cases [RCV000136641] ChrX:80659978..80734149 [GRCh38]
ChrX:79915477..79989648 [GRCh37]
ChrX:79802133..79876304 [NCBI36]
ChrX:Xq21.1
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 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
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 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1(chrX:80711040-80734149)x1 copy number loss See cases [RCV000139456] ChrX:80711040..80734149 [GRCh38]
ChrX:79966539..79989648 [GRCh37]
ChrX:79853195..79876304 [NCBI36]
ChrX:Xq21.1
uncertain significance
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 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xq21.1(chrX:80121900-80975430)x2 copy number gain See cases [RCV000138902] ChrX:80121900..80975430 [GRCh38]
ChrX:79377399..80230929 [GRCh37]
ChrX:79264055..80117585 [NCBI36]
ChrX:Xq21.1
uncertain significance
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 Xq21.1-21.31(chrX:80722314-92152619)x0 copy number loss See cases [RCV000139635] ChrX:80722314..92152619 [GRCh38]
ChrX:79977813..91407618 [GRCh37]
ChrX:79864469..91294274 [NCBI36]
ChrX:Xq21.1-21.31
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 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 Xq21.1(chrX:80679741-81059969)x3 copy number gain See cases [RCV000142061] ChrX:80679741..81059969 [GRCh38]
ChrX:79935240..80315468 [GRCh37]
ChrX:79821896..80202124 [NCBI36]
ChrX:Xq21.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 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 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
NM_153252.5(BRWD3):c.2083A>G (p.Asn695Asp) single nucleotide variant not provided [RCV000175490] ChrX:80717721 [GRCh38]
ChrX:79973220 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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
NM_153252.5(BRWD3):c.597A>C (p.Ser199=) single nucleotide variant History of neurodevelopmental disorder [RCV000716047]|Mental retardation, X-linked 93 [RCV000370145]|not provided [RCV000960089]|not specified [RCV000193303] ChrX:80744248 [GRCh38]
ChrX:79999747 [GRCh37]
ChrX:Xq21.1
benign|likely benign|uncertain significance
NM_153252.5(BRWD3):c.3324A>G (p.Gly1108=) single nucleotide variant not specified [RCV000194130] ChrX:80692090 [GRCh38]
ChrX:79947589 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.5101G>A (p.Gly1701Arg) single nucleotide variant Intellectual disability [RCV001251698]|Mental retardation, X-linked 93 [RCV000599839]|not specified [RCV000195263] ChrX:80676917 [GRCh38]
ChrX:79932416 [GRCh37]
ChrX:Xq21.1
likely benign
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_153252.5(BRWD3):c.4255T>G (p.Leu1419Val) single nucleotide variant Mental retardation, X-linked 93 [RCV000199586] ChrX:80682607 [GRCh38]
ChrX:79938106 [GRCh37]
ChrX:Xq21.1
likely pathogenic
NM_153252.5(BRWD3):c.2105G>A (p.Ser702Asn) single nucleotide variant not specified [RCV000192738] ChrX:80717699 [GRCh38]
ChrX:79973198 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.3541G>A (p.Val1181Ile) single nucleotide variant not specified [RCV000193229] ChrX:80691114 [GRCh38]
ChrX:79946613 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.3690A>G (p.Ala1230=) single nucleotide variant not provided [RCV000921416]|not specified [RCV000193883] ChrX:80690005 [GRCh38]
ChrX:79945504 [GRCh37]
ChrX:Xq21.1
likely benign|uncertain significance
NM_153252.5(BRWD3):c.1755T>G (p.Pro585=) single nucleotide variant not specified [RCV000195075] ChrX:80722683 [GRCh38]
ChrX:79978182 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_153252.5(BRWD3):c.3718C>T (p.Arg1240Ter) single nucleotide variant not provided [RCV000224684] ChrX:80689977 [GRCh38]
ChrX:79945476 [GRCh37]
ChrX:Xq21.1
likely pathogenic
NM_153252.5(BRWD3):c.2325+5G>A single nucleotide variant History of neurodevelopmental disorder [RCV000716212]|Mental retardation, X-linked 93 [RCV000990889]|not provided [RCV000890603]|not specified [RCV000238931] ChrX:80716152 [GRCh38]
ChrX:79971651 [GRCh37]
ChrX:Xq21.1
benign|likely benign
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:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_153252.5(BRWD3):c.488C>T (p.Pro163Leu) single nucleotide variant not provided [RCV000521343] ChrX:80745672 [GRCh38]
ChrX:80001171 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_153252.5(BRWD3):c.*2626C>T single nucleotide variant Mental retardation, X-linked 93 [RCV000304344] ChrX:80673983 [GRCh38]
ChrX:79929482 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*4194C>A single nucleotide variant Mental retardation, X-linked 93 [RCV000288046] ChrX:80672415 [GRCh38]
ChrX:79927914 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.*5993G>C single nucleotide variant Mental retardation, X-linked 93 [RCV000273349] ChrX:80670616 [GRCh38]
ChrX:79926115 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.814-8T>A single nucleotide variant Mental retardation, X-linked 93 [RCV000269755] ChrX:80736096 [GRCh38]
ChrX:79991595 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*5514T>C single nucleotide variant Mental retardation, X-linked 93 [RCV000355293] ChrX:80671095 [GRCh38]
ChrX:79926594 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.2184G>A (p.Ala728=) single nucleotide variant Mental retardation, X-linked 93 [RCV000366434]|not specified [RCV000502732] ChrX:80717620 [GRCh38]
ChrX:79973119 [GRCh37]
ChrX:Xq21.1
benign|likely benign|uncertain significance
NM_153252.5(BRWD3):c.*1992G>A single nucleotide variant Mental retardation, X-linked 93 [RCV000272289] ChrX:80674617 [GRCh38]
ChrX:79930116 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_153252.5(BRWD3):c.*3483G>A single nucleotide variant Mental retardation, X-linked 93 [RCV000311372] ChrX:80673126 [GRCh38]
ChrX:79928625 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.*2594T>C single nucleotide variant Mental retardation, X-linked 93 [RCV000361422] ChrX:80674015 [GRCh38]
ChrX:79929514 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*3850G>C single nucleotide variant Mental retardation, X-linked 93 [RCV000345459] ChrX:80672759 [GRCh38]
ChrX:79928258 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.*6640T>A single nucleotide variant Mental retardation, X-linked 93 [RCV000394522] ChrX:80669969 [GRCh38]
ChrX:79925468 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_153252.5(BRWD3):c.*5790G>A single nucleotide variant Mental retardation, X-linked 93 [RCV000312200] ChrX:80670819 [GRCh38]
ChrX:79926318 [GRCh37]
ChrX:Xq21.1
likely benign|uncertain significance
NM_153252.5(BRWD3):c.*2154A>G single nucleotide variant Mental retardation, X-linked 93 [RCV000364544] ChrX:80674455 [GRCh38]
ChrX:79929954 [GRCh37]
ChrX:Xq21.1
likely benign|uncertain significance
NM_153252.5(BRWD3):c.*5133G>T single nucleotide variant Mental retardation, X-linked 93 [RCV000324640] ChrX:80671476 [GRCh38]
ChrX:79926975 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_153252.5(BRWD3):c.*1895C>G single nucleotide variant Mental retardation, X-linked 93 [RCV000325051] ChrX:80674714 [GRCh38]
ChrX:79930213 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*6157C>T single nucleotide variant Mental retardation, X-linked 93 [RCV000314296] ChrX:80670452 [GRCh38]
ChrX:79925951 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.*5461T>G single nucleotide variant Mental retardation, X-linked 93 [RCV000315808] ChrX:80671148 [GRCh38]
ChrX:79926647 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.*121C>G single nucleotide variant Mental retardation, X-linked 93 [RCV000278679] ChrX:80676488 [GRCh38]
ChrX:79931987 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*6025dup duplication Non-syndromic X-linked intellectual disability [RCV000370337] ChrX:80670583..80670584 [GRCh38]
ChrX:79926082..79926083 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.*5333G>T single nucleotide variant Mental retardation, X-linked 93 [RCV000372780] ChrX:80671276 [GRCh38]
ChrX:79926775 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_153252.4(BRWD3):c.-251_-250delTC microsatellite Non-syndromic X-linked intellectual disability [RCV000281658] ChrX:80809721..80809722 [GRCh38]
ChrX:80065220..80065221 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*2323G>A single nucleotide variant Mental retardation, X-linked 93 [RCV000321421] ChrX:80674286 [GRCh38]
ChrX:79929785 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_153252.5(BRWD3):c.-239_-238TC[6] microsatellite Non-syndromic X-linked intellectual disability [RCV000373735] ChrX:80809700..80809701 [GRCh38]
ChrX:80065199..80065200 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.3326-14del deletion Non-syndromic X-linked intellectual disability [RCV000401000] ChrX:80691992 [GRCh38]
ChrX:79947491 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*6871G>T single nucleotide variant Mental retardation, X-linked 93 [RCV000283815] ChrX:80669738 [GRCh38]
ChrX:79925237 [GRCh37]
ChrX:Xq21.1
likely benign|uncertain significance
NM_153252.5(BRWD3):c.*4809T>G single nucleotide variant Mental retardation, X-linked 93 [RCV000376873] ChrX:80671800 [GRCh38]
ChrX:79927299 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_153252.5(BRWD3):c.*4581C>T single nucleotide variant Mental retardation, X-linked 93 [RCV000284648] ChrX:80672028 [GRCh38]
ChrX:79927527 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*6902G>A single nucleotide variant Mental retardation, X-linked 93 [RCV000380586] ChrX:80669707 [GRCh38]
ChrX:79925206 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_153252.5(BRWD3):c.-229_-228dup duplication Non-syndromic X-linked intellectual disability [RCV000330803] ChrX:80809698..80809699 [GRCh38]
ChrX:80065197..80065198 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*4223C>T single nucleotide variant Mental retardation, X-linked 93 [RCV000384804] ChrX:80672386 [GRCh38]
ChrX:79927885 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.*6439G>A single nucleotide variant Mental retardation, X-linked 93 [RCV000310851] ChrX:80670170 [GRCh38]
ChrX:79925669 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*1473T>A single nucleotide variant Mental retardation, X-linked 93 [RCV000333380] ChrX:80675136 [GRCh38]
ChrX:79930635 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.5130G>T (p.Gly1710=) single nucleotide variant History of neurodevelopmental disorder [RCV000721003]|Mental retardation, X-linked 93 [RCV000336048]|not provided [RCV000909425] ChrX:80676888 [GRCh38]
ChrX:79932387 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_153252.5(BRWD3):c.*1703T>C single nucleotide variant Mental retardation, X-linked 93 [RCV000382019] ChrX:80674906 [GRCh38]
ChrX:79930405 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*1036A>C single nucleotide variant Mental retardation, X-linked 93 [RCV000294164] ChrX:80675573 [GRCh38]
ChrX:79931072 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.3326-26dup duplication Non-syndromic X-linked intellectual disability [RCV000358530] ChrX:80691991..80691992 [GRCh38]
ChrX:79947490..79947491 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*1592G>C single nucleotide variant Mental retardation, X-linked 93 [RCV000294816] ChrX:80675017 [GRCh38]
ChrX:79930516 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_153252.5(BRWD3):c.*6862T>C single nucleotide variant Mental retardation, X-linked 93 [RCV000341194] ChrX:80669747 [GRCh38]
ChrX:79925246 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.*6957C>G single nucleotide variant Mental retardation, X-linked 93 [RCV000341927] ChrX:80669652 [GRCh38]
ChrX:79925151 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*244_*245CA[2] microsatellite Non-syndromic X-linked intellectual disability [RCV000395426] ChrX:80676358..80676361 [GRCh38]
ChrX:79931857..79931860 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.4309G>A (p.Ala1437Thr) single nucleotide variant not provided [RCV000727485] ChrX:80682553 [GRCh38]
ChrX:79938052 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*265_*266AC[4] microsatellite Non-syndromic X-linked intellectual disability [RCV000337357] ChrX:80676333..80676336 [GRCh38]
ChrX:79931832..79931835 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.*2710G>A single nucleotide variant Mental retardation, X-linked 93 [RCV000260924] ChrX:80673899 [GRCh38]
ChrX:79929398 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*6248A>G single nucleotide variant Mental retardation, X-linked 93 [RCV000344697] ChrX:80670361 [GRCh38]
ChrX:79925860 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*6197T>C single nucleotide variant Mental retardation, X-linked 93 [RCV000398724] ChrX:80670412 [GRCh38]
ChrX:79925911 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*3787T>C single nucleotide variant Mental retardation, X-linked 93 [RCV000399001] ChrX:80672822 [GRCh38]
ChrX:79928321 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.*2877G>A single nucleotide variant Mental retardation, X-linked 93 [RCV000401149] ChrX:80673732 [GRCh38]
ChrX:79929231 [GRCh37]
ChrX:Xq21.1
likely benign|uncertain significance
NM_153252.5(BRWD3):c.*1372T>A single nucleotide variant Mental retardation, X-linked 93 [RCV000386110] ChrX:80675237 [GRCh38]
ChrX:79930736 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.*5481A>C single nucleotide variant Mental retardation, X-linked 93 [RCV000262882] ChrX:80671128 [GRCh38]
ChrX:79926627 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.*2329A>T single nucleotide variant Mental retardation, X-linked 93 [RCV000263968] ChrX:80674280 [GRCh38]
ChrX:79929779 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*2831C>T single nucleotide variant Mental retardation, X-linked 93 [RCV000300650] ChrX:80673778 [GRCh38]
ChrX:79929277 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.*4272C>T single nucleotide variant Mental retardation, X-linked 93 [RCV000346649] ChrX:80672337 [GRCh38]
ChrX:79927836 [GRCh37]
ChrX:Xq21.1
benign|likely benign
NM_153252.5(BRWD3):c.*3083G>T single nucleotide variant Mental retardation, X-linked 93 [RCV000349897] ChrX:80673526 [GRCh38]
ChrX:79929025 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*5264G>T single nucleotide variant Mental retardation, X-linked 93 [RCV000267167] ChrX:80671345 [GRCh38]
ChrX:79926844 [GRCh37]
ChrX:Xq21.1
benign|uncertain significance
NM_153252.5(BRWD3):c.4263C>T (p.Ala1421=) single nucleotide variant Mental retardation, X-linked 93 [RCV000305786] ChrX:80682599 [GRCh38]
ChrX:79938098 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*2744A>G single nucleotide variant Mental retardation, X-linked 93 [RCV000353435] ChrX:80673865 [GRCh38]
ChrX:79929364 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.3863A>G (p.Lys1288Arg) single nucleotide variant not specified [RCV000371280] ChrX:80688070 [GRCh38]
ChrX:79943569 [GRCh37]
ChrX:Xq21.1
benign
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
NM_153252.5(BRWD3):c.1118A>G (p.Asn373Ser) single nucleotide variant BRWD3-related X-linked syndromic intellectual disability [RCV001270718] ChrX:80733465 [GRCh38]
ChrX:79988964 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.3433G>A (p.Glu1145Lys) single nucleotide variant not provided [RCV000488959] ChrX:80691871 [GRCh38]
ChrX:79947370 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.-283_-282CT[8] microsatellite Non-syndromic X-linked intellectual disability [RCV000303458] ChrX:80809737..80809738 [GRCh38]
ChrX:80065236..80065237 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.2551A>G (p.Ser851Gly) single nucleotide variant not provided [RCV000523558] ChrX:80707428 [GRCh38]
ChrX:79962927 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.4994G>A (p.Trp1665Ter) single nucleotide variant not provided [RCV000523814] ChrX:80677024 [GRCh38]
ChrX:79932523 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.1858C>A (p.Leu620Met) single nucleotide variant not provided [RCV000733148] ChrX:80722580 [GRCh38]
ChrX:79978079 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.568C>T (p.Arg190Ter) single nucleotide variant Mental retardation, X-linked 93 [RCV000415462] ChrX:80745592 [GRCh38]
ChrX:80001091 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_153252.5(BRWD3):c.2598_2601dup (p.Leu868fs) duplication not provided [RCV000413023] ChrX:80704797..80704798 [GRCh38]
ChrX:79960296..79960297 [GRCh37]
ChrX:Xq21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-21.1(chrX:71316395-84337550)x3 copy number gain See cases [RCV000447565] ChrX:71316395..84337550 [GRCh37]
ChrX:Xq13.1-21.1
uncertain significance
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 Xq21.1(chrX:79898147-80011045)x2 copy number gain See cases [RCV000446122] ChrX:79898147..80011045 [GRCh37]
ChrX:Xq21.1
likely 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
NM_153252.5(BRWD3):c.460G>A (p.Gly154Ser) single nucleotide variant not provided [RCV000437817] ChrX:80745700 [GRCh38]
ChrX:80001199 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_153252.5(BRWD3):c.4732G>A (p.Ala1578Thr) single nucleotide variant not provided [RCV000423891] ChrX:80677286 [GRCh38]
ChrX:79932785 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.1645G>A (p.Glu549Lys) single nucleotide variant not provided [RCV000427455] ChrX:80723753 [GRCh38]
ChrX:79979252 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.4757G>A (p.Gly1586Glu) single nucleotide variant not provided [RCV000437933] ChrX:80677261 [GRCh38]
ChrX:79932760 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_153252.5(BRWD3):c.2327A>T (p.Asn776Ile) single nucleotide variant not provided [RCV000418033] ChrX:80709576 [GRCh38]
ChrX:79965075 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.1808G>A (p.Arg603Gln) single nucleotide variant not provided [RCV000442499] ChrX:80722630 [GRCh38]
ChrX:79978129 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.5117G>A (p.Gly1706Glu) single nucleotide variant not provided [RCV000442988] ChrX:80676901 [GRCh38]
ChrX:79932400 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.1792C>G (p.Pro598Ala) single nucleotide variant not provided [RCV000429005] ChrX:80722646 [GRCh38]
ChrX:79978145 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.5237G>A (p.Arg1746Gln) single nucleotide variant not provided [RCV000430053] ChrX:80676781 [GRCh38]
ChrX:79932280 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.478C>T (p.His160Tyr) single nucleotide variant not provided [RCV000426469] ChrX:80745682 [GRCh38]
ChrX:80001181 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_153252.5(BRWD3):c.3359C>T (p.Pro1120Leu) single nucleotide variant not provided [RCV000482323] ChrX:80691945 [GRCh38]
ChrX:79947444 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.1633A>G (p.Ser545Gly) single nucleotide variant not provided [RCV000486984] ChrX:80723765 [GRCh38]
ChrX:79979264 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.638G>A (p.Arg213His) single nucleotide variant not provided [RCV000483139] ChrX:80744207 [GRCh38]
ChrX:79999706 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_153252.5(BRWD3):c.573C>T (p.Ser191=) single nucleotide variant not specified [RCV000501761] ChrX:80745587 [GRCh38]
ChrX:80001086 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.2535A>C (p.Gln845His) single nucleotide variant not provided [RCV000497311] ChrX:80707444 [GRCh38]
ChrX:79962943 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.-8G>C single nucleotide variant not specified [RCV000499996] ChrX:80809479 [GRCh38]
ChrX:80064978 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_153252.5(BRWD3):c.1300T>C (p.Tyr434His) single nucleotide variant Inborn genetic diseases [RCV000623943]|not specified [RCV000502884] ChrX:80728838 [GRCh38]
ChrX:79984337 [GRCh37]
ChrX:Xq21.1
likely benign|uncertain significance
NM_153252.5(BRWD3):c.4398-7C>T single nucleotide variant not specified [RCV000500918] ChrX:80682101 [GRCh38]
ChrX:79937600 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq21.1(chrX:79935240-80335185)x2 copy number gain See cases [RCV000511692] ChrX:79935240..80335185 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.1(chrX:79746059-80055183)x3 copy number gain See cases [RCV000511862] ChrX:79746059..80055183 [GRCh37]
ChrX:Xq21.1
likely benign
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1(chrX:79903168-80034833)x2 copy number gain See cases [RCV000511140] ChrX:79903168..80034833 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) copy number loss See cases [RCV000510947] ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
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
NM_153252.5(BRWD3):c.2721+4_2721+7dup duplication not specified [RCV000603945] ChrX:80704670..80704671 [GRCh38]
ChrX:79960169..79960170 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.4849A>T (p.Ser1617Cys) single nucleotide variant not provided [RCV000512790] ChrX:80677169 [GRCh38]
ChrX:79932668 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_153252.5(BRWD3):c.2300A>C (p.Lys767Thr) single nucleotide variant History of neurodevelopmental disorder [RCV000717275] ChrX:80716182 [GRCh38]
ChrX:79971681 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.814-4del deletion History of neurodevelopmental disorder [RCV000715656] ChrX:80736092 [GRCh38]
ChrX:79991591 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.1962G>A (p.Leu654=) single nucleotide variant History of neurodevelopmental disorder [RCV000719765] ChrX:80719571 [GRCh38]
ChrX:79975070 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.1761A>G (p.Pro587=) single nucleotide variant History of neurodevelopmental disorder [RCV000719796] ChrX:80722677 [GRCh38]
ChrX:79978176 [GRCh37]
ChrX:Xq21.1
likely benign
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
NM_153252.5(BRWD3):c.5236C>T (p.Arg1746Ter) single nucleotide variant Mental retardation, X-linked 93 [RCV000681484] ChrX:80676782 [GRCh38]
ChrX:79932281 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.814-4T>A single nucleotide variant History of neurodevelopmental disorder [RCV000717196] ChrX:80736092 [GRCh38]
ChrX:79991591 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.1505G>A (p.Arg502Gln) single nucleotide variant History of neurodevelopmental disorder [RCV000719144] ChrX:80724949 [GRCh38]
ChrX:79980448 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.381A>G (p.Arg127=) single nucleotide variant History of neurodevelopmental disorder [RCV000719384] ChrX:80791903 [GRCh38]
ChrX:80047402 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.2729G>C (p.Gly910Ala) single nucleotide variant History of neurodevelopmental disorder [RCV000720956]|not provided [RCV000922929] ChrX:80703586 [GRCh38]
ChrX:79959085 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
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
NM_153252.5(BRWD3):c.4015G>T (p.Glu1339Ter) single nucleotide variant not provided [RCV000760840] ChrX:80685527 [GRCh38]
ChrX:79941026 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_153252.5(BRWD3):c.3198_3199TG[1] (p.Val1067fs) microsatellite Mental retardation, X-linked 93 [RCV000761506] ChrX:80693002..80693003 [GRCh38]
ChrX:79948501..79948502 [GRCh37]
ChrX:Xq21.1
pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
NM_153252.5(BRWD3):c.4054A>T (p.Arg1352Ter) single nucleotide variant not provided [RCV000760583] ChrX:80685488 [GRCh38]
ChrX:79940987 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_153252.5(BRWD3):c.5089C>T (p.Arg1697Ter) single nucleotide variant not provided [RCV000760679] ChrX:80676929 [GRCh38]
ChrX:79932428 [GRCh37]
ChrX:Xq21.1
likely pathogenic
NM_153252.5(BRWD3):c.*847G>A single nucleotide variant Mental retardation, X-linked 93 [RCV001166592] ChrX:80675762 [GRCh38]
ChrX:79931261 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.-267C>T single nucleotide variant Mental retardation, X-linked 93 [RCV001166659] ChrX:80809738 [GRCh38]
ChrX:80065237 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.1674C>T (p.His558=) single nucleotide variant not provided [RCV000943510] ChrX:80722764 [GRCh38]
ChrX:79978263 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.459C>T (p.Thr153=) single nucleotide variant not provided [RCV000925771] ChrX:80745701 [GRCh38]
ChrX:80001200 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.2941A>C (p.Arg981=) single nucleotide variant not provided [RCV000936695] ChrX:80699959 [GRCh38]
ChrX:79955458 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.4088A>G (p.Gln1363Arg) single nucleotide variant not provided [RCV000937444] ChrX:80684155 [GRCh38]
ChrX:79939654 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_153252.5(BRWD3):c.256G>A (p.Glu86Lys) single nucleotide variant Mental retardation, X-linked 93 [RCV000768432] ChrX:80793697 [GRCh38]
ChrX:80049196 [GRCh37]
ChrX:Xq21.1
likely pathogenic
NM_153252.5(BRWD3):c.423A>T (p.Pro141=) single nucleotide variant not provided [RCV000924967] ChrX:80791861 [GRCh38]
ChrX:80047360 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.4314C>T (p.Ile1438=) single nucleotide variant not provided [RCV000908016] ChrX:80682548 [GRCh38]
ChrX:79938047 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.4524A>G (p.Leu1508=) single nucleotide variant not provided [RCV000904333] ChrX:80681471 [GRCh38]
ChrX:79936970 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.6G>A (p.Ala2=) single nucleotide variant not provided [RCV000933219] ChrX:80809466 [GRCh38]
ChrX:80064965 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.3672C>T (p.Asp1224=) single nucleotide variant not provided [RCV000930937] ChrX:80690023 [GRCh38]
ChrX:79945522 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.986-4C>T single nucleotide variant not provided [RCV000900298] ChrX:80734222 [GRCh38]
ChrX:79989721 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.435T>C (p.Asn145=) single nucleotide variant not provided [RCV000980036] ChrX:80745725 [GRCh38]
ChrX:80001224 [GRCh37]
ChrX:Xq21.1
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_153252.5(BRWD3):c.3602+15A>C single nucleotide variant Mental retardation, X-linked 93 [RCV001169077] ChrX:80691038 [GRCh38]
ChrX:79946537 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.2044+13A>G single nucleotide variant Mental retardation, X-linked 93 [RCV001169082] ChrX:80719476 [GRCh38]
ChrX:79974975 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.*4139T>C single nucleotide variant Mental retardation, X-linked 93 [RCV001167623] ChrX:80672470 [GRCh38]
ChrX:79927969 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*1820G>C single nucleotide variant Mental retardation, X-linked 93 [RCV001166104] ChrX:80674789 [GRCh38]
ChrX:79930288 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.957C>A (p.Val319=) single nucleotide variant Mental retardation, X-linked 93 [RCV001166165] ChrX:80735155 [GRCh38]
ChrX:79990654 [GRCh37]
ChrX:Xq21.1
benign
GRCh37/hg19 Xq13.3-21.31(chrX:74667077-90312981)x1 copy number loss not provided [RCV000847338] ChrX:74667077..90312981 [GRCh37]
ChrX:Xq13.3-21.31
pathogenic
NM_153252.5(BRWD3):c.*3293C>A single nucleotide variant Mental retardation, X-linked 93 [RCV001168269] ChrX:80673316 [GRCh38]
ChrX:79928815 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.3965C>T (p.Ser1322Leu) single nucleotide variant Mental retardation, X-linked 93 [RCV001168337] ChrX:80686903 [GRCh38]
ChrX:79942402 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.96A>G (p.Leu32=) single nucleotide variant Mental retardation, X-linked 93 [RCV001166657] ChrX:80809037 [GRCh38]
ChrX:80064536 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*4661A>G single nucleotide variant Mental retardation, X-linked 93 [RCV001166055] ChrX:80671948 [GRCh38]
ChrX:79927447 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*6692A>G single nucleotide variant Mental retardation, X-linked 93 [RCV001168194] ChrX:80669917 [GRCh38]
ChrX:79925416 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*3252T>C single nucleotide variant Mental retardation, X-linked 93 [RCV001168270] ChrX:80673357 [GRCh38]
ChrX:79928856 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*2723A>G single nucleotide variant Mental retardation, X-linked 93 [RCV001169008] ChrX:80673886 [GRCh38]
ChrX:79929385 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.2878G>A (p.Val960Ile) single nucleotide variant BRWD3-Related Disorder [RCV000844959] ChrX:80700022 [GRCh38]
ChrX:79955521 [GRCh37]
ChrX:Xq21.1
not provided
NM_153252.5(BRWD3):c.*5142A>G single nucleotide variant Mental retardation, X-linked 93 [RCV001166054] ChrX:80671467 [GRCh38]
ChrX:79926966 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*3377T>G single nucleotide variant Mental retardation, X-linked 93 [RCV001168268] ChrX:80673232 [GRCh38]
ChrX:79928731 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_153252.5(BRWD3):c.3791del (p.Ser1264fs) deletion Intellectual disability [RCV000850218] ChrX:80689784 [GRCh38]
ChrX:79945283 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_153252.5(BRWD3):c.592-3T>C single nucleotide variant Mental retardation, X-linked 93 [RCV001007815] ChrX:80744256 [GRCh38]
ChrX:79999755 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.3602+20C>G single nucleotide variant Mental retardation, X-linked 93 [RCV000984902] ChrX:80691033 [GRCh38]
ChrX:79946532 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.3865-119TA[9] microsatellite Mental retardation, X-linked 93 [RCV000990888] ChrX:80687101..80687104 [GRCh38]
ChrX:79942600..79942603 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.1690C>T (p.Leu564Phe) single nucleotide variant Mental retardation, X-linked 93 [RCV000990890] ChrX:80722748 [GRCh38]
ChrX:79978247 [GRCh37]
ChrX:Xq21.1
likely pathogenic|uncertain significance
GRCh37/hg19 Xq21.1(chrX:79893290-79993825)x2 copy number gain not provided [RCV000847692] ChrX:79893290..79993825 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xq21.1(chrX:79893290-80010011)x2 copy number gain not provided [RCV000845764] ChrX:79893290..80010011 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_153252.5(BRWD3):c.5297A>T (p.Asp1766Val) single nucleotide variant not provided [RCV000995975] ChrX:80676721 [GRCh38]
ChrX:79932220 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.4137G>A (p.Leu1379=) single nucleotide variant not provided [RCV000995976] ChrX:80684106 [GRCh38]
ChrX:79939605 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.3432C>T (p.Asp1144=) single nucleotide variant not provided [RCV000995977] ChrX:80691872 [GRCh38]
ChrX:79947371 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.2295_2297GAA[1] (p.Lys768del) microsatellite not provided [RCV000995978] ChrX:80716182..80716184 [GRCh38]
ChrX:79971681..79971683 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.1919A>G (p.Asn640Ser) single nucleotide variant not provided [RCV000995979] ChrX:80719614 [GRCh38]
ChrX:79975113 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.1413A>C (p.Leu471=) single nucleotide variant not provided [RCV000995980] ChrX:80725041 [GRCh38]
ChrX:79980540 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.*6451T>C single nucleotide variant Mental retardation, X-linked 93 [RCV001168195] ChrX:80670158 [GRCh38]
ChrX:79925657 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*248C>T single nucleotide variant Mental retardation, X-linked 93 [RCV001166594] ChrX:80676361 [GRCh38]
ChrX:79931860 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.2943+13A>G single nucleotide variant Mental retardation, X-linked 93 [RCV001169080] ChrX:80699944 [GRCh38]
ChrX:79955443 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.1416A>G (p.Glu472=) single nucleotide variant not provided [RCV000983400] ChrX:80725038 [GRCh38]
ChrX:79980537 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.431-10dup duplication not provided [RCV000885994] ChrX:80745732..80745733 [GRCh38]
ChrX:80001231..80001232 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.492A>G (p.Ser164=) single nucleotide variant not provided [RCV000930437] ChrX:80745668 [GRCh38]
ChrX:80001167 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.3863= (p.Lys1288=) variation not provided [RCV000964613] ChrX:80688070 [GRCh38]
ChrX:79943569 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.4572C>T (p.Phe1524=) single nucleotide variant not provided [RCV000910335] ChrX:80681423 [GRCh38]
ChrX:79936922 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.*1394G>C single nucleotide variant Mental retardation, X-linked 93 [RCV001166105] ChrX:80675215 [GRCh38]
ChrX:79930714 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.1384T>C (p.Ser462Pro) single nucleotide variant Mental retardation, X-linked 93 [RCV001166164] ChrX:80728754 [GRCh38]
ChrX:79984253 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*802A>G single nucleotide variant Mental retardation, X-linked 93 [RCV001166593] ChrX:80675807 [GRCh38]
ChrX:79931306 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.1404A>G (p.Val468=) single nucleotide variant not provided [RCV000890427] ChrX:80725050 [GRCh38]
ChrX:79980549 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.858T>C (p.Thr286=) single nucleotide variant not provided [RCV000891328] ChrX:80736044 [GRCh38]
ChrX:79991543 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.2377C>T (p.Arg793Cys) single nucleotide variant Intellectual disability [RCV001251697] ChrX:80709526 [GRCh38]
ChrX:79965025 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.*3594T>C single nucleotide variant Mental retardation, X-linked 93 [RCV001167625] ChrX:80673015 [GRCh38]
ChrX:79928514 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.3939G>A (p.Leu1313=) single nucleotide variant Mental retardation, X-linked 93 [RCV001168338] ChrX:80686929 [GRCh38]
ChrX:79942428 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.-229C>T single nucleotide variant Mental retardation, X-linked 93 [RCV001166658] ChrX:80809700 [GRCh38]
ChrX:80065199 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.4328G>C (p.Arg1443Thr) single nucleotide variant Mental retardation, X-linked 93 [RCV001168336] ChrX:80682534 [GRCh38]
ChrX:79938033 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*6331C>G single nucleotide variant Mental retardation, X-linked 93 [RCV001168196] ChrX:80670278 [GRCh38]
ChrX:79925777 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.*2875A>G single nucleotide variant Mental retardation, X-linked 93 [RCV001168271] ChrX:80673734 [GRCh38]
ChrX:79929233 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*5773A>C single nucleotide variant Mental retardation, X-linked 93 [RCV001168948] ChrX:80670836 [GRCh38]
ChrX:79926335 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*5741G>T single nucleotide variant Mental retardation, X-linked 93 [RCV001168949] ChrX:80670868 [GRCh38]
ChrX:79926367 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.3602+14T>A single nucleotide variant Mental retardation, X-linked 93 [RCV001169078] ChrX:80691039 [GRCh38]
ChrX:79946538 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.*2413T>A single nucleotide variant Mental retardation, X-linked 93 [RCV001169009] ChrX:80674196 [GRCh38]
ChrX:79929695 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.3318A>G (p.Pro1106=) single nucleotide variant Mental retardation, X-linked 93 [RCV001169079] ChrX:80692096 [GRCh38]
ChrX:79947595 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.2326-14C>A single nucleotide variant Mental retardation, X-linked 93 [RCV001169081] ChrX:80709591 [GRCh38]
ChrX:79965090 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*3738A>G single nucleotide variant Mental retardation, X-linked 93 [RCV001167624] ChrX:80672871 [GRCh38]
ChrX:79928370 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*3447G>A single nucleotide variant Mental retardation, X-linked 93 [RCV001168267] ChrX:80673162 [GRCh38]
ChrX:79928661 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.3031A>G (p.Ile1011Val) single nucleotide variant not provided [RCV001092038] ChrX:80696776 [GRCh38]
ChrX:79952275 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.2026G>A (p.Ala676Thr) single nucleotide variant Mental retardation, X-linked 93 [RCV001166163] ChrX:80719507 [GRCh38]
ChrX:79975006 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.637C>T (p.Arg213Cys) single nucleotide variant Mental retardation, X-linked 93 [RCV001166167] ChrX:80744208 [GRCh38]
ChrX:79999707 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.4184G>A (p.Arg1395His) single nucleotide variant Intellectual disability [RCV001251696] ChrX:80684059 [GRCh38]
ChrX:79939558 [GRCh37]
ChrX:Xq21.1
likely benign
NM_153252.5(BRWD3):c.*799C>A single nucleotide variant Mental retardation, X-linked 93 [RCV001253927] ChrX:80675810 [GRCh38]
ChrX:79931309 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.*575G>T single nucleotide variant Mental retardation, X-linked 93 [RCV001253928] ChrX:80676034 [GRCh38]
ChrX:79931533 [GRCh37]
ChrX:Xq21.1
benign
NM_153252.5(BRWD3):c.3886C>T (p.Gln1296Ter) single nucleotide variant Inborn genetic diseases [RCV001265773] ChrX:80686982 [GRCh38]
ChrX:79942481 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_153252.5(BRWD3):c.1086G>A (p.Thr362=) single nucleotide variant Inborn genetic diseases [RCV001265916] ChrX:80734118 [GRCh38]
ChrX:79989617 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.473T>C (p.Phe158Ser) single nucleotide variant Inborn genetic diseases [RCV001266941] ChrX:80745687 [GRCh38]
ChrX:80001186 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 copy number loss not provided [RCV001259005] ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_153252.5(BRWD3):c.5080C>T (p.Arg1694Ter) single nucleotide variant Mental retardation, X-linked 93 [RCV001262642] ChrX:80676938 [GRCh38]
ChrX:79932437 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.3208C>T (p.Gln1070Ter) single nucleotide variant not provided [RCV001268546] ChrX:80692995 [GRCh38]
ChrX:79948494 [GRCh37]
ChrX:Xq21.1
pathogenic
NM_153252.5(BRWD3):c.100C>T (p.Gln34Ter) single nucleotide variant not provided [RCV001268573] ChrX:80809033 [GRCh38]
ChrX:80064532 [GRCh37]
ChrX:Xq21.1
likely pathogenic
NM_153252.5(BRWD3):c.4138G>A (p.Glu1380Lys) single nucleotide variant Mental retardation, X-linked 93 [RCV001330465] ChrX:80684105 [GRCh38]
ChrX:79939604 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.4705A>G (p.Thr1569Ala) single nucleotide variant Mental retardation, X-linked 93 [RCV001330466] ChrX:80677313 [GRCh38]
ChrX:79932812 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.90+5G>A single nucleotide variant Mental retardation, X-linked 93 [RCV001330467] ChrX:80809241 [GRCh38]
ChrX:80064740 [GRCh37]
ChrX:Xq21.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_153252.5(BRWD3):c.872C>A (p.Thr291Lys) single nucleotide variant not provided [RCV001310739] ChrX:80736030 [GRCh38]
ChrX:79991529 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.5345C>A (p.Ser1782Ter) single nucleotide variant Mental retardation, X-linked 93 [RCV001270390] ChrX:80676673 [GRCh38]
ChrX:79932172 [GRCh37]
ChrX:Xq21.1
uncertain significance
NM_153252.5(BRWD3):c.2689A>T (p.Arg897Trp) single nucleotide variant Mental retardation, X-linked 93 [RCV001330464] ChrX:80704710 [GRCh38]
ChrX:79960209 [GRCh37]
ChrX:Xq21.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17342 AgrOrtholog
COSMIC BRWD3 COSMIC
Ensembl Genes ENSG00000165288 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000362372 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000373275 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 1.20.920.10 UniProtKB/Swiss-Prot
  2.130.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000165288 GTEx
HGNC ID HGNC:17342 ENTREZGENE
Human Proteome Map BRWD3 Human Proteome Map
InterPro Bromodomain UniProtKB/Swiss-Prot
  Bromodomain-like_sf UniProtKB/Swiss-Prot
  WD40/YVTN_repeat-like_dom_sf UniProtKB/Swiss-Prot
  WD40_repeat UniProtKB/Swiss-Prot
  WD40_repeat_CS UniProtKB/Swiss-Prot
  WD40_repeat_dom UniProtKB/Swiss-Prot
  WD40_repeat_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:254065 UniProtKB/Swiss-Prot
NCBI Gene 254065 ENTREZGENE
OMIM 300553 OMIM
  300659 OMIM
Pfam Bromodomain UniProtKB/Swiss-Prot
  WD40 UniProtKB/Swiss-Prot
PharmGKB PA134900775 PharmGKB
PRINTS BROMODOMAIN UniProtKB/Swiss-Prot
PROSITE BROMODOMAIN_2 UniProtKB/Swiss-Prot
  WD_REPEATS_1 UniProtKB/Swiss-Prot
  WD_REPEATS_2 UniProtKB/Swiss-Prot
  WD_REPEATS_REGION UniProtKB/Swiss-Prot
SMART BROMO UniProtKB/Swiss-Prot
  WD40 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47370 UniProtKB/Swiss-Prot
  SSF50978 UniProtKB/Swiss-Prot
UniProt BRWD3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary C9IZ39 UniProtKB/Swiss-Prot
  C9J3F3 UniProtKB/Swiss-Prot
  Q2T9J6 UniProtKB/Swiss-Prot
  Q5JRN1 UniProtKB/Swiss-Prot
  Q6RI37 UniProtKB/Swiss-Prot
  Q6RI42 UniProtKB/Swiss-Prot
  Q6RI44 UniProtKB/Swiss-Prot
  Q8N916 UniProtKB/Swiss-Prot