WAS (WASP actin nucleation promoting factor) - Rat Genome Database

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Gene: WAS (WASP actin nucleation promoting factor) Homo sapiens
Analyze
Symbol: WAS
Name: WASP actin nucleation promoting factor
RGD ID: 1349471
HGNC Page HGNC
Description: Exhibits SH3 domain binding activity; enzyme binding activity; and identical protein binding activity. Involved in several processes, including Cdc42 protein signal transduction; positive regulation of nucleobase-containing compound metabolic process; and regulation of actin filament organization. Localizes to several cellular components, including actin filament; cytosol; and site of double-strand break. Implicated in Wiskott-Aldrich syndrome and X-linked severe congenital neutropenia.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: eczema-thrombocytopenia; IMD2; SCNX; THC; THC1; thrombocytopenia 1 (X-linked); WASP; WASPA; Wiskott-Aldrich syndrome; wiskott-Aldrich syndrome 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 EnsemblX48,676,596 - 48,691,427 (+)EnsemblGRCh38hg38GRCh38
GRCh38X48,683,753 - 48,691,427 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,542,188 - 48,549,818 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,427,153 - 48,434,759 (+)NCBINCBI36hg18NCBI36
Build 34X48,298,458 - 48,306,065NCBI
CeleraX53,114,189 - 53,121,821 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,204,599 - 46,212,234 (+)NCBIHuRef
CHM1_1X48,573,355 - 48,580,986 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal bleeding  (IAGP)
Abnormal delayed hypersensitivity skin test  (IAGP)
Abnormal eosinophil morphology  (IAGP)
Abnormal platelet function  (IAGP)
Abnormal platelet morphology  (IAGP)
Abnormality of the menstrual cycle  (IAGP)
Abnormality of the musculature  (IAGP)
Abnormality of the skin  (IAGP)
Absent microvilli on the surface of peripheral blood lymphocytes  (IAGP)
Acute leukemia  (IAGP)
Arthritis  (IAGP)
Autoimmunity  (IAGP)
Blepharitis  (IAGP)
Bruising susceptibility  (IAGP)
Chest pain  (IAGP)
Chronic diarrhea  (IAGP)
Chronic leukemia  (IAGP)
Chronic otitis media  (IAGP)
Chronic pulmonary obstruction  (IAGP)
Congenital hypoplastic anemia  (IAGP)
Congenital thrombocytopenia  (IAGP)
Conjunctivitis  (IAGP)
Decreased circulating total IgM  (IAGP)
Decreased mean platelet volume  (IAGP)
Decreased specific anti-polysaccharide antibody level  (IAGP)
Dyspnea  (IAGP)
Eczema  (IAGP)
Epistaxis  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Gingival bleeding  (IAGP)
Glomerulopathy  (IAGP)
Hematemesis  (IAGP)
Hematochezia  (IAGP)
Hemolytic anemia  (IAGP)
Hyperostosis  (IAGP)
Hypoplasia of the thymus  (IAGP)
Immunodeficiency  (IAGP)
Increased circulating IgA level  (IAGP)
Increased circulating IgE level  (IAGP)
Inflammation of the large intestine  (IAGP)
Intermittent thrombocytopenia  (IAGP)
Intracranial hemorrhage  (IAGP)
Iron deficiency anemia  (IAGP)
Joint hemorrhage  (IAGP)
Keratitis  (IAGP)
Large vessel vasculitis  (IAGP)
Lymphoma  (IAGP)
Lymphopenia  (IAGP)
Melena  (IAGP)
Meningitis  (IAGP)
Microcytic anemia  (IAGP)
Monocytopenia  (IAGP)
Nephropathy  (IAGP)
Neutropenia  (IAGP)
Oral bleeding  (IAGP)
Otitis media  (IAGP)
Peripheral neuropathy  (IAGP)
Petechiae  (IAGP)
Pneumonia  (IAGP)
Prolonged bleeding time  (IAGP)
Recurrent bacterial infections  (IAGP)
Recurrent intrapulmonary hemorrhage  (IAGP)
Recurrent lower respiratory tract infections  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Reduced lymphocyte surface expression of CD43  (IAGP)
Schizophrenia  (IAGP)
Sepsis  (IAGP)
Sinusitis  (IAGP)
Skin ulcer  (IAGP)
Small vessel vasculitis  (IAGP)
Specific learning disability  (IAGP)
Spontaneous hematomas  (IAGP)
Sudden cardiac death  (IAGP)
Thrombocytopenia  (IAGP)
Urticaria  (IAGP)
Vasculitis  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:2904289   PMID:4161668   PMID:7565724   PMID:7753869   PMID:7795648   PMID:8528198   PMID:8528199   PMID:8625410   PMID:8643625   PMID:8757563   PMID:8805223   PMID:8805332  
PMID:8810341   PMID:8824280   PMID:8892607   PMID:9098856   PMID:9126958   PMID:9307968   PMID:9405671   PMID:9422512   PMID:9445409   PMID:9488710   PMID:9660763   PMID:9683546  
PMID:9694849   PMID:9713366   PMID:9742969   PMID:9889097   PMID:10066431   PMID:10068673   PMID:10202051   PMID:10224664   PMID:10358777   PMID:10360578   PMID:10360579   PMID:10381382  
PMID:10427990   PMID:10447259   PMID:10532312   PMID:10563804   PMID:10684602   PMID:10713100   PMID:10724160   PMID:10747096   PMID:10759756   PMID:10802735   PMID:10861055   PMID:10967094  
PMID:11052943   PMID:11146629   PMID:11242115   PMID:11313252   PMID:11340081   PMID:11598004   PMID:11711533   PMID:11721045   PMID:11748279   PMID:11793485   PMID:11877312   PMID:11943145  
PMID:11950596   PMID:12029088   PMID:12073025   PMID:12124997   PMID:12135674   PMID:12177428   PMID:12196287   PMID:12200375   PMID:12213210   PMID:12235133   PMID:12351383   PMID:12429845  
PMID:12431372   PMID:12477932   PMID:12504004   PMID:12530983   PMID:12591280   PMID:12600272   PMID:12665801   PMID:12727931   PMID:12769846   PMID:12769847   PMID:12791263   PMID:12872157  
PMID:12969986   PMID:14504083   PMID:14559906   PMID:14707117   PMID:15001467   PMID:15075243   PMID:15130947   PMID:15166239   PMID:15169891   PMID:15235593   PMID:15361624   PMID:15389128  
PMID:15469902   PMID:15489334   PMID:15494313   PMID:15497008   PMID:15558067   PMID:15588985   PMID:15592455   PMID:15652748   PMID:15699074   PMID:15728466   PMID:15735674   PMID:15772651  
PMID:15821030   PMID:15824104   PMID:15985539   PMID:16002738   PMID:16055720   PMID:16107303   PMID:16246732   PMID:16257963   PMID:16278221   PMID:16285728   PMID:16293614   PMID:16360341  
PMID:16372137   PMID:16418535   PMID:16488394   PMID:16511828   PMID:16582881   PMID:16709815   PMID:16804117   PMID:16901726   PMID:17065640   PMID:17213309   PMID:17242350   PMID:17296785  
PMID:17390083   PMID:17400488   PMID:17703096   PMID:17711847   PMID:17719003   PMID:17724125   PMID:17890224   PMID:18029348   PMID:18043243   PMID:18332229   PMID:18539136   PMID:18650809  
PMID:18654788   PMID:18941616   PMID:18948384   PMID:18995840   PMID:19006568   PMID:19041431   PMID:19155218   PMID:19167335   PMID:19234535   PMID:19487689   PMID:19561083   PMID:19630517  
PMID:19798448   PMID:19805221   PMID:19808890   PMID:19817875   PMID:19859091   PMID:20129922   PMID:20232122   PMID:20301357   PMID:20354175   PMID:20458337   PMID:20574068   PMID:20936779  
PMID:21178275   PMID:21185603   PMID:21383498   PMID:21516116   PMID:21562048   PMID:21676863   PMID:21690559   PMID:21711396   PMID:21873635   PMID:21988832   PMID:22038941   PMID:22252508  
PMID:22311461   PMID:22558309   PMID:22585739   PMID:22665495   PMID:22804504   PMID:22921828   PMID:22944692   PMID:23119100   PMID:23148219   PMID:23160469   PMID:23237501   PMID:23264413  
PMID:23301916   PMID:23455509   PMID:23527602   PMID:23684068   PMID:24115682   PMID:24133214   PMID:24287595   PMID:24369837   PMID:24440360   PMID:24872192   PMID:24945741   PMID:24962707  
PMID:25115631   PMID:25154619   PMID:25158122   PMID:25200405   PMID:25253772   PMID:25277185   PMID:25342748   PMID:25388447   PMID:25413351   PMID:25416956   PMID:25502805   PMID:25931402  
PMID:26028144   PMID:26159751   PMID:26175287   PMID:26261240   PMID:26277674   PMID:26342115   PMID:26368308   PMID:26463123   PMID:26496610   PMID:26506240   PMID:26993433   PMID:27643438  
PMID:27694894   PMID:28302793   PMID:28351346   PMID:28473602   PMID:28539360   PMID:28641574   PMID:28901403   PMID:28931895   PMID:28956125   PMID:29022901   PMID:29146903   PMID:29215267  
PMID:29316027   PMID:29358862   PMID:29386393   PMID:29656494   PMID:29725003   PMID:29925947   PMID:30029636   PMID:30104412   PMID:30124469   PMID:30196744   PMID:30510251   PMID:30738478  
PMID:30945288   PMID:31047647   PMID:31515488   PMID:32296183  


Genomics

Comparative Map Data
WAS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX48,676,596 - 48,691,427 (+)EnsemblGRCh38hg38GRCh38
GRCh38X48,683,753 - 48,691,427 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X48,542,188 - 48,549,818 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,427,153 - 48,434,759 (+)NCBINCBI36hg18NCBI36
Build 34X48,298,458 - 48,306,065NCBI
CeleraX53,114,189 - 53,121,821 (-)NCBI
Cytogenetic MapXp11.23NCBI
HuRefX46,204,599 - 46,212,234 (+)NCBIHuRef
CHM1_1X48,573,355 - 48,580,986 (+)NCBICHM1_1
Was
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X7,947,705 - 7,956,730 (-)NCBIGRCm39mm39
GRCm39 EnsemblX7,947,692 - 7,956,737 (-)Ensembl
GRCm38X8,081,466 - 8,090,491 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX8,081,453 - 8,090,498 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X7,658,592 - 7,667,617 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X7,238,425 - 7,247,411 (-)NCBImm8
CeleraX3,379,544 - 3,417,982 (+)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX3.65NCBI
Was
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X14,405,096 - 14,413,850 (+)NCBI
Rnor_6.0 EnsemblX15,155,230 - 15,164,105 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X15,155,246 - 15,164,099 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X15,938,008 - 15,946,861 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X26,436,292 - 26,444,997 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX14,489,816 - 14,498,509 (+)NCBICelera
Cytogenetic MapXq12NCBI
Was
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955543247,631 - 253,274 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955543243,618 - 253,489 (+)NCBIChiLan1.0ChiLan1.0
WAS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X48,842,765 - 48,850,380 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX48,842,765 - 48,850,380 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X40,982,132 - 40,989,767 (+)NCBIMhudiblu_PPA_v0panPan3
WAS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X41,882,240 - 41,890,053 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX41,882,875 - 41,890,058 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX16,258,631 - 16,265,849 (+)NCBI
ROS_Cfam_1.0X50,188,660 - 50,195,882 (-)NCBI
UMICH_Zoey_3.1X42,005,431 - 42,012,647 (+)NCBI
UNSW_CanFamBas_1.0X41,993,869 - 42,001,084 (+)NCBI
UU_Cfam_GSD_1.0X42,087,592 - 42,094,803 (+)NCBI
Was
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X34,393,603 - 34,400,920 (+)NCBI
SpeTri2.0NW_004936721634,685 - 641,248 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WAS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX42,774,588 - 42,793,055 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X42,774,597 - 42,793,055 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Pig CytomapXp13NCBI
WAS
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X45,809,418 - 45,817,165 (+)NCBI
ChlSab1.1 EnsemblX45,809,189 - 45,817,667 (+)Ensembl
Was
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624893453,793 - 493,696 (+)NCBI

Position Markers
RH91122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,549,565 - 48,549,702UniSTSGRCh37
Build 36X48,434,509 - 48,434,646RGDNCBI36
CeleraX53,114,305 - 53,114,442RGD
Cytogenetic MapXp11.4-p11.21UniSTS
HuRefX46,211,981 - 46,212,118UniSTS
GeneMap99-GB4 RH MapX141.19UniSTS
RH79911  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X48,549,555 - 48,549,746UniSTSGRCh37
Build 36X48,434,499 - 48,434,690RGDNCBI36
CeleraX53,114,261 - 53,114,452RGD
Cytogenetic MapXp11.4-p11.21UniSTS
HuRefX46,211,971 - 46,212,162UniSTS
GeneMap99-GB4 RH MapX138.57UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1777
Count of miRNA genes:769
Interacting mature miRNAs:908
Transcripts:ENST00000376701, ENST00000450772, ENST00000465982, ENST00000470107, ENST00000474174, ENST00000483750, ENST00000490627
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 2 2
Medium 434 1100 217 94 1887 67 765 72 511 115 192 734 28 734 358 1
Low 1956 1846 1494 520 57 387 3468 2004 3166 284 1213 792 138 470 2357 3
Below cutoff 43 36 12 8 4 10 121 117 41 19 44 82 3 73 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011543977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017029786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC115618 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF196970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM085518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002961 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI910072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF529565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U12707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U18935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U19927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y16094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000376701   ⟹   ENSP00000365891
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,683,799 - 48,691,427 (+)Ensembl
RefSeq Acc Id: ENST00000450772   ⟹   ENSP00000410537
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,676,596 - 48,686,871 (+)Ensembl
RefSeq Acc Id: ENST00000465982
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,683,819 - 48,688,137 (+)Ensembl
RefSeq Acc Id: ENST00000470107
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,689,020 - 48,689,594 (+)Ensembl
RefSeq Acc Id: ENST00000474174
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,688,279 - 48,688,999 (+)Ensembl
RefSeq Acc Id: ENST00000483750
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,683,828 - 48,688,198 (+)Ensembl
RefSeq Acc Id: ENST00000490627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX48,685,779 - 48,688,146 (+)Ensembl
RefSeq Acc Id: NM_000377   ⟹   NP_000368
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,683,799 - 48,691,427 (+)NCBI
GRCh37X48,542,186 - 48,549,818 (+)ENTREZGENE
Build 36X48,427,153 - 48,434,759 (+)NCBI Archive
HuRefX46,204,599 - 46,212,234 (+)ENTREZGENE
CHM1_1X48,573,355 - 48,580,986 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011543977   ⟹   XP_011542279
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,683,792 - 48,691,427 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017029786   ⟹   XP_016885275
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,683,753 - 48,690,644 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000368   ⟸   NM_000377
- UniProtKB: P42768 (UniProtKB/Swiss-Prot),   A0A024QYX8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011542279   ⟸   XM_011543977
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016885275   ⟸   XM_017029786
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000410537   ⟸   ENST00000450772
RefSeq Acc Id: ENSP00000365891   ⟸   ENST00000376701
Protein Domains
CRIB   WH1   WH2

Promoters
RGD ID:6809392
Promoter ID:HG_KWN:66689
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:OTTHUMT00000083374
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,419,616 - 48,420,267 (+)MPROMDB
RGD ID:6809395
Promoter ID:HG_KWN:66690
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000083375,   OTTHUMT00000083378,   OTTHUMT00000083379
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,426,874 - 48,427,374 (+)MPROMDB
RGD ID:6809393
Promoter ID:HG_KWN:66691
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000083376
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,428,756 - 48,429,502 (+)MPROMDB
RGD ID:6809394
Promoter ID:HG_KWN:66692
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000083377
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,430,751 - 48,431,742 (+)MPROMDB
RGD ID:6809391
Promoter ID:HG_KWN:66693
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000083373
Position:
Human AssemblyChrPosition (strand)Source
Build 36X48,432,159 - 48,432,659 (+)MPROMDB
RGD ID:13605236
Promoter ID:EPDNEW_H28802
Type:initiation region
Name:WAS_2
Description:Wiskott-Aldrich syndrome
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28803  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,676,593 - 48,676,653EPDNEW
RGD ID:13605238
Promoter ID:EPDNEW_H28803
Type:initiation region
Name:WAS_1
Description:Wiskott-Aldrich syndrome
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28802  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X48,683,818 - 48,683,878EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000377.2(WAS):c.160_164delinsAACCTGGCGCTGCCCCC (p.Tyr54_Leu55delinsAsnLeuAlaLeuProPro) indel not provided [RCV000518983] ChrX:48684310..48684314 [GRCh38]
ChrX:48542699..48542703 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_000377.2(WAS):c.961C>T (p.Arg321Ter) single nucleotide variant X-linked severe congenital neutropenia [RCV000818878]|not provided [RCV000520558] ChrX:48688689 [GRCh38]
ChrX:48547078 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.1188_1196ACCGCCACC[1] (p.Pro402_Pro404del) microsatellite X-linked severe congenital neutropenia [RCV001080907]|not provided [RCV000589441] ChrX:48688911..48688919 [GRCh38]
ChrX:48547300..48547308 [GRCh37]
ChrX:Xp11.23
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000377.2(WAS):c.273+10_273+11dup duplication X-linked severe congenital neutropenia [RCV000633310]|not specified [RCV000238722] ChrX:48684427..48684428 [GRCh38]
ChrX:48542816..48542817 [GRCh37]
ChrX:Xp11.23
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000377.2(WAS):c.310C>T (p.Gln104Ter) single nucleotide variant Wiskott-Aldrich syndrome [RCV000030594] ChrX:48685583 [GRCh38]
ChrX:48543972 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_000377.2(WAS):c.37C>T (p.Arg13Ter) single nucleotide variant Wiskott-Aldrich syndrome [RCV000030595]|X-linked severe congenital neutropenia [RCV001230612]|not provided [RCV001311067] ChrX:48683890 [GRCh38]
ChrX:48542279 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.538C>A (p.His180Asn) single nucleotide variant X-linked severe congenital neutropenia [RCV001086760]|X-linked thrombocytopenia with normal platelets [RCV000030596]|not provided [RCV000419963]|not specified [RCV000122270] ChrX:48686113 [GRCh38]
ChrX:48544502 [GRCh37]
ChrX:Xp11.23
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000377.2(WAS):c.763dup (p.Gln255fs) duplication Wiskott-Aldrich syndrome [RCV000030597] ChrX:48688077..48688078 [GRCh38]
ChrX:48546466..48546467 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_000377.2(WAS):c.814T>C (p.Ser272Pro) single nucleotide variant X-linked severe congenital neutropenia [RCV000022858] ChrX:48688336 [GRCh38]
ChrX:48546725 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.881T>C (p.Ile294Thr) single nucleotide variant X-linked severe congenital neutropenia [RCV000022859]|X-linked severe congenital neutropenia [RCV001058962]|not provided [RCV001268500] ChrX:48688403 [GRCh38]
ChrX:48546792 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
WAS, 1-BP DEL, 211T deletion Wiskott-Aldrich syndrome [RCV000011862] ChrX:Xp11.23-p11.22 pathogenic
NM_000377.2(WAS):c.257G>T (p.Arg86Leu) single nucleotide variant Wiskott-Aldrich syndrome [RCV000011863] ChrX:48684407 [GRCh38]
ChrX:48542796 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.257G>A (p.Arg86His) single nucleotide variant Wiskott-Aldrich syndrome [RCV000011864]|X-linked severe congenital neutropenia [RCV000633305]|not provided [RCV000414284] ChrX:48684407 [GRCh38]
ChrX:48542796 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.167C>T (p.Ala56Val) single nucleotide variant X-linked thrombocytopenia with normal platelets [RCV000011865] ChrX:48684317 [GRCh38]
ChrX:48542706 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.707C>G (p.Ala236Gly) single nucleotide variant X-linked thrombocytopenia with normal platelets [RCV000011866] ChrX:48686928 [GRCh38]
ChrX:48545317 [GRCh37]
ChrX:Xp11.23
pathogenic
WAS, 1-BP INS, 512C insertion X-linked thrombocytopenia with normal platelets [RCV000011867] ChrX:Xp11.23-p11.22 pathogenic
NM_000377.2(WAS):c.100C>T (p.Arg34Ter) single nucleotide variant Wiskott-Aldrich syndrome [RCV000011868] ChrX:48683953 [GRCh38]
ChrX:48542342 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.1A>T (p.Met1Leu) single nucleotide variant Wiskott-Aldrich syndrome [RCV000011869] ChrX:48683854 [GRCh38]
ChrX:48542243 [GRCh37]
ChrX:Xp11.23
pathogenic|other
NM_000377.2(WAS):c.395_400dup microsatellite Wiskott-Aldrich syndrome [RCV000011870] ChrX:48685760..48685761 [GRCh38]
ChrX:48544149..48544150 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.244T>C (p.Ser82Pro) single nucleotide variant Wiskott-Aldrich syndrome, attenuated [RCV000011871] ChrX:48684394 [GRCh38]
ChrX:48542783 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.134C>T (p.Thr45Met) single nucleotide variant Thrombocytopenia [RCV000851684]|X-linked severe congenital neutropenia [RCV001037597]|X-linked thrombocytopenia with normal platelets [RCV000011872]|not provided [RCV001172206] ChrX:48684284 [GRCh38]
ChrX:48542673 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.1097del (p.Gly366fs) deletion Wiskott-Aldrich syndrome [RCV000011873] ChrX:48688821 [GRCh38]
ChrX:48547210 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.809T>C (p.Leu270Pro) single nucleotide variant X-linked severe congenital neutropenia [RCV000011874]|not provided [RCV001291553] ChrX:48688331 [GRCh38]
ChrX:48546720 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_000377.2(WAS):c.173C>G (p.Pro58Arg) single nucleotide variant Thrombocytopenia, X-linked, intermittent [RCV000011875] ChrX:48684323 [GRCh38]
ChrX:48542712 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.1442T>A (p.Ile481Asn) single nucleotide variant Thrombocytopenia, X-linked, intermittent [RCV000011876] ChrX:48689423 [GRCh38]
ChrX:48547812 [GRCh37]
ChrX:Xp11.23
pathogenic
WAS, 15,800-BP DEL deletion Wiskott-Aldrich syndrome [RCV000011877] ChrX:Xp11.23-p11.22 pathogenic
WAS, IVS6DS, G-A, +5 single nucleotide variant Wiskott-Aldrich syndrome [RCV000011878]|X-linked thrombocytopenia with normal platelets [RCV000011879] ChrX:Xp11.23-p11.22 pathogenic
NM_000377.3(WAS):c.560-1G>A single nucleotide variant Wiskott-Aldrich syndrome [RCV000011880] ChrX:48686780 [GRCh38]
ChrX:48545169 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.559+2T>G single nucleotide variant Wiskott-Aldrich syndrome [RCV000011881] ChrX:48686136 [GRCh38]
ChrX:48544525 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.11del (p.Gly4fs) deletion Wiskott-Aldrich syndrome [RCV000011882]|X-linked severe congenital neutropenia [RCV001225126] ChrX:48683860 [GRCh38]
ChrX:48542249 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.73_74del (p.Thr25fs) deletion Wiskott-Aldrich syndrome [RCV000011883] ChrX:48683925..48683926 [GRCh38]
ChrX:48542314..48542315 [GRCh37]
ChrX:Xp11.23
pathogenic
WAS, 1-BP DEL, 758A deletion Wiskott-Aldrich syndrome [RCV000011884] ChrX:Xp11.23-p11.22 pathogenic
WAS, 1-BP DEL, CODON 241, C deletion Wiskott-Aldrich syndrome [RCV000011885] ChrX:Xp11.23-p11.22 pathogenic
NM_000377.2(WAS):c.90C>T (p.His30=) single nucleotide variant X-linked severe congenital neutropenia [RCV000558492] ChrX:48683943 [GRCh38]
ChrX:48542332 [GRCh37]
ChrX:Xp11.23
benign
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)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 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 copy number gain See cases [RCV000051992] ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22
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 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp11.23(chrX:48612125-49292405)x2 copy number gain See cases [RCV000054185] ChrX:48612125..49292405 [GRCh38]
ChrX:48510591..49148873 [GRCh37]
ChrX:48355457..49035817 [NCBI36]
ChrX:Xp11.23
uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
NM_000377.2(WAS):c.1073G>A (p.Gly358Glu) single nucleotide variant Malignant melanoma [RCV000073205] ChrX:48688801 [GRCh38]
ChrX:48547190 [GRCh37]
ChrX:48432134 [NCBI36]
ChrX:Xp11.23
not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000377.3(WAS):c.374G>A (p.Gly125Glu) single nucleotide variant Wiskott-Aldrich syndrome [RCV001332389] ChrX:48685747 [GRCh38]
ChrX:48544136 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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 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:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22
pathogenic
GRCh38/hg38 Xp22.33-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 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3 copy number gain See cases [RCV000135801] ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21
pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3
pathogenic|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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 Xp11.23-11.22(chrX:48260861-52664916)x2 copy number gain See cases [RCV000136829] ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23
pathogenic
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 copy number gain See cases [RCV000138106] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 copy number loss See cases [RCV000138107] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2 copy number gain See cases [RCV000139185] ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22
pathogenic|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 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 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22
pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_000377.2(WAS):c.223G>A (p.Val75Met) single nucleotide variant X-linked severe congenital neutropenia [RCV000768136]|X-linked thrombocytopenia with normal platelets [RCV000589566]|not provided [RCV000255132] ChrX:48684373 [GRCh38]
ChrX:48542762 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.995T>C (p.Val332Ala) single nucleotide variant X-linked severe congenital neutropenia [RCV001083623]|not provided [RCV000513811]|not specified [RCV000122265] ChrX:48688723 [GRCh38]
ChrX:48547112 [GRCh37]
ChrX:Xp11.23
benign|likely benign|conflicting interpretations of pathogenicity|not provided
NM_000377.2(WAS):c.1378C>T (p.Pro460Ser) single nucleotide variant X-linked severe congenital neutropenia [RCV001088148]|not provided [RCV000224336]|not specified [RCV000122266] ChrX:48689359 [GRCh38]
ChrX:48547748 [GRCh37]
ChrX:Xp11.23
benign|likely benign|not provided
NM_000377.2(WAS):c.391G>A (p.Glu131Lys) single nucleotide variant X-linked severe congenital neutropenia [RCV000990810]|X-linked severe congenital neutropenia [RCV001081710]|not provided [RCV000514559]|not specified [RCV000122268] ChrX:48685764 [GRCh38]
ChrX:48544153 [GRCh37]
ChrX:Xp11.23
benign|likely benign|not provided
NM_000377.2(WAS):c.413G>A (p.Arg138Gln) single nucleotide variant Wiskott-Aldrich syndrome [RCV001261849]|X-linked severe congenital neutropenia [RCV000862741]|not specified [RCV000122269] ChrX:48685786 [GRCh38]
ChrX:48544175 [GRCh37]
ChrX:Xp11.23
benign|uncertain significance|not provided
NM_000377.2(WAS):c.285G>A (p.Leu95=) single nucleotide variant X-linked severe congenital neutropenia [RCV001088097]|not provided [RCV000177052] ChrX:48685558 [GRCh38]
ChrX:48543947 [GRCh37]
ChrX:Xp11.23
benign|conflicting interpretations of pathogenicity|uncertain significance
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_000377.2(WAS):c.1299G>A (p.Ala433=) single nucleotide variant X-linked severe congenital neutropenia [RCV000865086]|not specified [RCV000193897] ChrX:48689027 [GRCh38]
ChrX:48547416 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_000377.2(WAS):c.39_40delinsCC (p.Gly14Arg) indel not specified [RCV000122263] ChrX:48683892..48683893 [GRCh38]
ChrX:48542281..48542282 [GRCh37]
ChrX:Xp11.23
not provided
NM_000377.2(WAS):c.58C>G (p.Gln20Glu) single nucleotide variant not specified [RCV000122264] ChrX:48683911 [GRCh38]
ChrX:48542300 [GRCh37]
ChrX:Xp11.23
not provided
NM_000377.2(WAS):c.194C>G (p.Thr65Ser) single nucleotide variant not specified [RCV000122267] ChrX:48684344 [GRCh38]
ChrX:48542733 [GRCh37]
ChrX:Xp11.23
not provided
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 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48310313-52614698)x1 copy number loss See cases [RCV000203435] ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic|uncertain significance
NM_000377.2(WAS):c.559+5G>C single nucleotide variant not provided [RCV000255479] ChrX:48686139 [GRCh38]
ChrX:48544528 [GRCh37]
ChrX:Xp11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000377.2(WAS):c.273+4_273+5insCC insertion not specified [RCV000238722] ChrX:48684427..48684428 [GRCh38]
ChrX:48542816..48542817 [GRCh37]
ChrX:Xp11.23
benign
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 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 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1
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
NM_000377.2(WAS):c.210G>A (p.Gly70=) single nucleotide variant not specified [RCV000246564] ChrX:48684360 [GRCh38]
ChrX:48542749 [GRCh37]
ChrX:Xp11.23
likely benign
NM_000377.2(WAS):c.873C>T (p.Tyr291=) single nucleotide variant X-linked severe congenital neutropenia [RCV000543825]|not specified [RCV000249500] ChrX:48688395 [GRCh38]
ChrX:48546784 [GRCh37]
ChrX:Xp11.23
benign|likely benign
NM_000377.3(WAS):c.273+11dup duplication X-linked severe congenital neutropenia [RCV000464148]|not specified [RCV000244752] ChrX:48684427..48684428 [GRCh38]
ChrX:48542816..48542817 [GRCh37]
ChrX:Xp11.23
benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.23(chrX:48336513-48554390)x2 copy number gain See cases [RCV000240388] ChrX:48336513..48554390 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000377.2(WAS):c.1453+16C>T single nucleotide variant not specified [RCV000243430] ChrX:48689450 [GRCh38]
ChrX:48547839 [GRCh37]
ChrX:Xp11.23
likely benign
NM_000377.2(WAS):c.1157dup (p.Gly387fs) duplication not provided [RCV000289685] ChrX:48688880..48688881 [GRCh38]
ChrX:48547269..48547270 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.264C>T (p.Tyr88=) single nucleotide variant X-linked severe congenital neutropenia [RCV001083957]|not provided [RCV000385059] ChrX:48684414 [GRCh38]
ChrX:48542803 [GRCh37]
ChrX:Xp11.23
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000377.2(WAS):c.466_469delAGAC microsatellite not provided [RCV000365822] ChrX:48685942..48685945 [GRCh38]
ChrX:48544331..48544334 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.390del (p.Asp130fs) deletion not provided [RCV000489103] ChrX:48685763 [GRCh38]
ChrX:48544152 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.1456G>A (p.Glu486Lys) single nucleotide variant Abnormal bleeding [RCV001270616] ChrX:48691109 [GRCh38]
ChrX:48549500 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_000377.2(WAS):c.1058del (p.Pro353fs) deletion X-linked severe congenital neutropenia [RCV000990812]|not provided [RCV000522198] ChrX:48688782 [GRCh38]
ChrX:48547171 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.1499G>A (p.Trp500Ter) single nucleotide variant not provided [RCV000587260] ChrX:48691152 [GRCh38]
ChrX:48549543 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.2(WAS):c.290G>A (p.Trp97Ter) single nucleotide variant Wiskott-Aldrich syndrome [RCV000586328] ChrX:48685563 [GRCh38]
ChrX:48543952 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_000377.2(WAS):c.553C>T (p.Gln185Ter) single nucleotide variant Wiskott-Aldrich syndrome [RCV000589073] ChrX:48686128 [GRCh38]
ChrX:48544517 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_000377.2(WAS):c.679C>T (p.Arg227Cys) single nucleotide variant X-linked severe congenital neutropenia [RCV000817658] ChrX:48686900 [GRCh38]
ChrX:48545289 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.2(WAS):c.1183_1190dup (p.Pro398fs) duplication not provided [RCV000414714] ChrX:48688910..48688911 [GRCh38]
ChrX:48547299..48547300 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.559+5G>A single nucleotide variant not provided [RCV000413138] ChrX:48686139 [GRCh38]
ChrX:48544528 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.1395_1399dup (p.Val467fs) duplication Wiskott-Aldrich syndrome [RCV001171382] ChrX:48689373..48689374 [GRCh38]
ChrX:48547762..48547763 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.777+1G>A single nucleotide variant Wiskott-Aldrich syndrome [RCV001290558]|X-linked severe congenital neutropenia [RCV000461952]|not provided [RCV000413782] ChrX:48688097 [GRCh38]
ChrX:48546486 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
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 Xp11.23-11.22(chrX:48317353-51497588)x3 copy number gain See cases [RCV000449147] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
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:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
GRCh37/hg19 Xp11.23(chrX:48300928-48578333)x3 copy number gain See cases [RCV000447325] ChrX:48300928..48578333 [GRCh37]
ChrX:Xp11.23
uncertain significance
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 Xp11.23-11.22(chrX:48317353-51497588)x2 copy number gain See cases [RCV000447617] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000377.2(WAS):c.1200G>A (p.Pro400=) single nucleotide variant X-linked severe congenital neutropenia [RCV000862326]|not specified [RCV000417423] ChrX:48688928 [GRCh38]
ChrX:48547317 [GRCh37]
ChrX:Xp11.23
benign|likely benign
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
NM_000377.2(WAS):c.360+1G>T single nucleotide variant not provided [RCV000426711] ChrX:48685634 [GRCh38]
ChrX:48544023 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.360+1G>A single nucleotide variant Wiskott-Aldrich syndrome [RCV001174594]|not provided [RCV000440734] ChrX:48685634 [GRCh38]
ChrX:48544023 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000377.2(WAS):c.249C>A (p.Tyr83Ter) single nucleotide variant not provided [RCV000480615] ChrX:48684399 [GRCh38]
ChrX:48542788 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.1453G>A (p.Asp485Asn) single nucleotide variant Wiskott-Aldrich syndrome [RCV000780796]|X-linked severe congenital neutropenia [RCV001038563]|not provided [RCV000482823] ChrX:48689434 [GRCh38]
ChrX:48547823 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.273+1G>A single nucleotide variant not provided [RCV000483001] ChrX:48684424 [GRCh38]
ChrX:48542813 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.173C>A (p.Pro58His) single nucleotide variant not provided [RCV000485571] ChrX:48684323 [GRCh38]
ChrX:48542712 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_000377.2(WAS):c.19G>T (p.Gly7Ter) single nucleotide variant not provided [RCV000479329] ChrX:48683872 [GRCh38]
ChrX:48542261 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.1219_1235dup (p.Pro413fs) duplication not provided [RCV000479829] ChrX:48688944..48688945 [GRCh38]
ChrX:48547333..48547334 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.1080A>C (p.Pro360=) single nucleotide variant not specified [RCV000501304] ChrX:48688808 [GRCh38]
ChrX:48547197 [GRCh37]
ChrX:Xp11.23
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_000377.2(WAS):c.1191G>C (p.Pro397=) single nucleotide variant not specified [RCV000499783] ChrX:48688919 [GRCh38]
ChrX:48547308 [GRCh37]
ChrX:Xp11.23
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_000377.2(WAS):c.1188A>C (p.Pro396=) single nucleotide variant not specified [RCV000502736] ChrX:48688916 [GRCh38]
ChrX:48547305 [GRCh37]
ChrX:Xp11.23
likely benign
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-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 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:46326268-48801984)x2 copy number gain See cases [RCV000511234] ChrX:46326268..48801984 [GRCh37]
ChrX:Xp11.3-11.23
likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000377.2(WAS):c.271C>T (p.Gln91Ter) single nucleotide variant X-linked severe congenital neutropenia [RCV000633306] ChrX:48684421 [GRCh38]
ChrX:48542810 [GRCh37]
ChrX:Xp11.23
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622) copy number gain not provided [RCV000767648] ChrX:43507300..48929622 [GRCh37]
ChrX:Xp11.3-11.23
pathogenic
NM_000377.2(WAS):c.413G>C (p.Arg138Pro) single nucleotide variant X-linked thrombocytopenia with normal platelets [RCV000588019] ChrX:48685786 [GRCh38]
ChrX:48544175 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.852del (p.Glu285fs) deletion Wiskott-Aldrich syndrome [RCV000586443] ChrX:48688373 [GRCh38]
ChrX:48546762 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_000377.2(WAS):c.91G>A (p.Glu31Lys) single nucleotide variant X-linked severe congenital neutropenia [RCV000633307]|not provided [RCV000657918] ChrX:48683944 [GRCh38]
ChrX:48542333 [GRCh37]
ChrX:Xp11.23
pathogenic|likely pathogenic
NM_000377.2(WAS):c.985C>G (p.Pro329Ala) single nucleotide variant X-linked severe congenital neutropenia [RCV000633308] ChrX:48688713 [GRCh38]
ChrX:48547102 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.2(WAS):c.897G>A (p.Gly299=) single nucleotide variant X-linked severe congenital neutropenia [RCV000633309] ChrX:48688419 [GRCh38]
ChrX:48546808 [GRCh37]
ChrX:Xp11.23
likely benign
NM_000377.2(WAS):c.351C>T (p.Phe117=) single nucleotide variant not provided [RCV000861982]|not specified [RCV000602231] ChrX:48685624 [GRCh38]
ChrX:48544013 [GRCh37]
ChrX:Xp11.23
likely benign
NC_000023.10:g.(?_48542223)_(48768933_?)dup duplication SLC35A2-CDG [RCV000651314] ChrX:48542223..48768933 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 copy number gain See cases [RCV000512224] ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_000377.2(WAS):c.778-6G>A single nucleotide variant not provided [RCV000519975] ChrX:48688294 [GRCh38]
ChrX:48546683 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.360+8A>G single nucleotide variant X-linked severe congenital neutropenia [RCV000633312] ChrX:48685641 [GRCh38]
ChrX:48544030 [GRCh37]
ChrX:Xp11.23
likely benign
NM_000377.3(WAS):c.1266_1267insG duplication Wiskott-Aldrich syndrome [RCV000590506]|X-linked severe congenital neutropenia [RCV001056670]|X-linked thrombocytopenia with normal platelets [RCV001009627] ChrX:48688994..48688995 [GRCh38]
ChrX:48547383..48547384 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 copy number gain See cases [RCV000512561] ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_000377.2(WAS):c.1208C>T (p.Pro403Leu) single nucleotide variant X-linked severe congenital neutropenia [RCV000766095]|not provided [RCV000513228] ChrX:48688936 [GRCh38]
ChrX:48547325 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000377.2(WAS):c.695_697delAGA microsatellite X-linked severe congenital neutropenia [RCV000686462] ChrX:48686908..48686910 [GRCh38]
ChrX:48545297..48545299 [GRCh37]
ChrX:Xp11.23
benign|uncertain significance
NM_000377.2(WAS):c.689A>G (p.Lys230Arg) single nucleotide variant X-linked severe congenital neutropenia [RCV000695862] ChrX:48686910 [GRCh38]
ChrX:48545299 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.2(WAS):c.1455C>T (p.Asp485=) single nucleotide variant not provided [RCV000659159] ChrX:48691108 [GRCh38]
ChrX:48549499 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.2(WAS):c.1001del (p.Gly334fs) deletion X-linked severe congenital neutropenia [RCV000696288] ChrX:48688724 [GRCh38]
ChrX:48547113 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 copy number loss not provided [RCV000684331] ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31
pathogenic
NM_000377.2(WAS):c.1060_1062delCCA microsatellite X-linked severe congenital neutropenia [RCV000700849] ChrX:48688785..48688787 [GRCh38]
ChrX:48547174..48547176 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.2(WAS):c.1255C>A (p.Leu419Met) single nucleotide variant X-linked severe congenital neutropenia [RCV000687335] ChrX:48688983 [GRCh38]
ChrX:48547372 [GRCh37]
ChrX:Xp11.23
likely benign|uncertain significance
NM_000377.2(WAS):c.49G>T (p.Ala17Ser) single nucleotide variant X-linked severe congenital neutropenia [RCV000686435] ChrX:48683902 [GRCh38]
ChrX:48542291 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.2(WAS):c.97C>G (p.Gln33Glu) single nucleotide variant X-linked severe congenital neutropenia [RCV000686843] ChrX:48683950 [GRCh38]
ChrX:48542339 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.2(WAS):c.482C>A (p.Pro161Gln) single nucleotide variant X-linked severe congenital neutropenia [RCV000687253] ChrX:48685964 [GRCh38]
ChrX:48544353 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.2(WAS):c.344A>G (p.His115Arg) single nucleotide variant X-linked severe congenital neutropenia [RCV000701351] ChrX:48685617 [GRCh38]
ChrX:48544006 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.2(WAS):c.565_566delinsAG (p.Pro189Arg) indel X-linked severe congenital neutropenia [RCV000686899] ChrX:48686786..48686787 [GRCh38]
ChrX:48545175..48545176 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.2(WAS):c.734+2T>A single nucleotide variant X-linked severe congenital neutropenia [RCV000700442] ChrX:48686957 [GRCh38]
ChrX:48545346 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp11.23(chrX:48182541-48630992)x3 copy number gain not provided [RCV000848540] ChrX:48182541..48630992 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.2(WAS):c.360+1G>C single nucleotide variant Wiskott-Aldrich syndrome [RCV000714956] ChrX:48685634 [GRCh38]
ChrX:48544023 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_000377.2(WAS):c.355G>T (p.Gly119Ter) single nucleotide variant X-linked severe congenital neutropenia [RCV000818272] ChrX:48685628 [GRCh38]
ChrX:48544017 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
46,Y,inv(X)(p21.1q13.3) inversion Elevated serum creatine phosphokinase [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3
likely pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22
pathogenic
NM_000377.3(WAS):c.1374del (p.Pro459fs) deletion not provided [RCV000999413] ChrX:48689355 [GRCh38]
ChrX:48547744 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_000377.3(WAS):c.1479T>C (p.Asp493=) single nucleotide variant not provided [RCV000898841] ChrX:48691132 [GRCh38]
ChrX:48549523 [GRCh37]
ChrX:Xp11.23
likely benign
NM_000377.3(WAS):c.184G>C (p.Glu62Gln) single nucleotide variant X-linked severe congenital neutropenia [RCV000907244] ChrX:48684334 [GRCh38]
ChrX:48542723 [GRCh37]
ChrX:Xp11.23
benign
NM_000377.3(WAS):c.1276G>T (p.Ala426Ser) single nucleotide variant X-linked severe congenital neutropenia [RCV000861853] ChrX:48689004 [GRCh38]
ChrX:48547393 [GRCh37]
ChrX:Xp11.23
benign
NM_000377.3(WAS):c.390C>T (p.Asp130=) single nucleotide variant X-linked severe congenital neutropenia [RCV000865036] ChrX:48685763 [GRCh38]
ChrX:48544152 [GRCh37]
ChrX:Xp11.23
likely benign
NM_000377.3(WAS):c.1181C>T (p.Pro394Leu) single nucleotide variant X-linked severe congenital neutropenia [RCV000865882] ChrX:48688909 [GRCh38]
ChrX:48547298 [GRCh37]
ChrX:Xp11.23
benign
NM_000377.3(WAS):c.141C>T (p.Ala47=) single nucleotide variant X-linked severe congenital neutropenia [RCV000981519] ChrX:48684291 [GRCh38]
ChrX:48542680 [GRCh37]
ChrX:Xp11.23
likely benign
NM_000377.3(WAS):c.1049C>T (p.Ala350Val) single nucleotide variant not provided [RCV000981643] ChrX:48688777 [GRCh38]
ChrX:48547166 [GRCh37]
ChrX:Xp11.23
likely benign
NM_000377.3(WAS):c.903G>C (p.Glu301Asp) single nucleotide variant not provided [RCV000981662] ChrX:48688425 [GRCh38]
ChrX:48546814 [GRCh37]
ChrX:Xp11.23
benign
NM_000377.3(WAS):c.159G>C (p.Leu53=) single nucleotide variant not provided [RCV000982165] ChrX:48684309 [GRCh38]
ChrX:48542698 [GRCh37]
ChrX:Xp11.23
likely benign
NM_000377.3(WAS):c.1086A>G (p.Pro362=) single nucleotide variant not provided [RCV000934416] ChrX:48688814 [GRCh38]
ChrX:48547203 [GRCh37]
ChrX:Xp11.23
likely benign
NM_000377.3(WAS):c.867T>C (p.Leu289=) single nucleotide variant not provided [RCV000878412] ChrX:48688389 [GRCh38]
ChrX:48546778 [GRCh37]
ChrX:Xp11.23
likely benign
NC_000023.10:g.(?_48549478)_(48549573_?)dup duplication X-linked severe congenital neutropenia [RCV001032414] ChrX:48549478..48549573 [GRCh37]
ChrX:Xp11.23
uncertain significance
NC_000023.10:g.(?_48542223)_(48549573_?)dup duplication X-linked severe congenital neutropenia [RCV001032513] ChrX:48542223..48549573 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.1310A>C (p.Gln437Pro) single nucleotide variant X-linked severe congenital neutropenia [RCV001037997] ChrX:48689038 [GRCh38]
ChrX:48547427 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.2(WAS):c.459T>G (p.Ser153Arg) single nucleotide variant X-linked severe congenital neutropenia [RCV000814058] ChrX:48685832 [GRCh38]
ChrX:48544221 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.2(WAS):c.1196C>G (p.Pro399Arg) single nucleotide variant X-linked severe congenital neutropenia [RCV000815707] ChrX:48688924 [GRCh38]
ChrX:48547313 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.69C>T (p.Pro23=) single nucleotide variant not provided [RCV000977257] ChrX:48683922 [GRCh38]
ChrX:48542311 [GRCh37]
ChrX:Xp11.23
likely benign
NM_000377.3(WAS):c.1253C>T (p.Ala418Val) single nucleotide variant X-linked severe congenital neutropenia [RCV000863555] ChrX:48688981 [GRCh38]
ChrX:48547370 [GRCh37]
ChrX:Xp11.23
likely benign
NM_000377.2(WAS):c.257G>C (p.Arg86Pro) single nucleotide variant Wiskott-Aldrich syndrome [RCV000780795] ChrX:48684407 [GRCh38]
ChrX:48542796 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_000377.2(WAS):c.217T>A (p.Cys73Ser) single nucleotide variant Thrombocytopenia [RCV000852074] ChrX:48684367 [GRCh38]
ChrX:48542756 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.2(WAS):c.559+8C>G single nucleotide variant X-linked severe congenital neutropenia [RCV000793595] ChrX:48686142 [GRCh38]
ChrX:48544531 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.2(WAS):c.1315_1453+204del deletion Wiskott-Aldrich syndrome [RCV000791259] ChrX:48689043..48689638 [GRCh38]
ChrX:48547432..48548027 [GRCh37]
ChrX:Xp11.23
pathogenic
NC_000023.11:g.48681722_48688043inv inversion Wiskott-Aldrich syndrome [RCV000791262] ChrX:48681722..48688043 [GRCh38]
ChrX:48540111..48546432 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.1337_1338+9del deletion Wiskott-Aldrich syndrome [RCV000791260] ChrX:48689062..48689072 [GRCh38]
ChrX:48547451..48547461 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.735-2A>G single nucleotide variant Wiskott-Aldrich syndrome [RCV000791261] ChrX:48688052 [GRCh38]
ChrX:48546441 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.660_664del (p.Ser221_Pro222insTer) deletion X-linked severe congenital neutropenia [RCV000794890] ChrX:48686879..48686883 [GRCh38]
ChrX:48545268..48545272 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.803delinsTT (p.Arg268fs) indel X-linked severe congenital neutropenia [RCV000808153] ChrX:48688325 [GRCh38]
ChrX:48546714 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.858del (p.Ser287fs) deletion X-linked severe congenital neutropenia [RCV000812978] ChrX:48688379 [GRCh38]
ChrX:48546768 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.-37_132+35del deletion X-linked severe congenital neutropenia [RCV000821672] ChrX:48683815..48684018 [GRCh38]
ChrX:48542204..48542407 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 copy number gain not provided [RCV000847795] ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000377.2(WAS):c.631C>T (p.Arg211Ter) single nucleotide variant X-linked severe congenital neutropenia [RCV000802424] ChrX:48686852 [GRCh38]
ChrX:48545241 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.734+5G>A single nucleotide variant X-linked severe congenital neutropenia [RCV000990811] ChrX:48686960 [GRCh38]
ChrX:48545349 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.1081C>A (p.Pro361Thr) single nucleotide variant X-linked severe congenital neutropenia [RCV000990813] ChrX:48688809 [GRCh38]
ChrX:48547198 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.2(WAS):c.266G>A (p.Gly89Asp) single nucleotide variant X-linked severe congenital neutropenia [RCV000812382] ChrX:48684416 [GRCh38]
ChrX:48542805 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.2(WAS):c.470_471del (p.Arg157fs) deletion X-linked severe congenital neutropenia [RCV000797025] ChrX:48685951..48685952 [GRCh38]
ChrX:48544340..48544341 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.2(WAS):c.463+3G>C single nucleotide variant X-linked severe congenital neutropenia [RCV000802386] ChrX:48685839 [GRCh38]
ChrX:48544228 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.397G>A (p.Glu133Lys) single nucleotide variant Wiskott-Aldrich syndrome [RCV001090058] ChrX:48685770 [GRCh38]
ChrX:48544159 [GRCh37]
ChrX:Xp11.23
likely pathogenic
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
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
GRCh37/hg19 Xp11.23(chrX:48491182-48772769)x3 copy number gain not provided [RCV000845674] ChrX:48491182..48772769 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.23del (p.Gly8fs) deletion not provided [RCV001008772] ChrX:48683875 [GRCh38]
ChrX:48542264 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.1405dup (p.Ala469fs) duplication Wiskott-Aldrich syndrome [RCV001171383] ChrX:48689381..48689382 [GRCh38]
ChrX:48547770..48547771 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.1219G>A (p.Gly407Arg) single nucleotide variant X-linked severe congenital neutropenia [RCV001231346] ChrX:48688947 [GRCh38]
ChrX:48547336 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.1391A>G (p.Glu464Gly) single nucleotide variant X-linked severe congenital neutropenia [RCV001215588] ChrX:48689372 [GRCh38]
ChrX:48547761 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.1316G>C (p.Arg439Pro) single nucleotide variant X-linked severe congenital neutropenia [RCV001222061] ChrX:48689044 [GRCh38]
ChrX:48547433 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.121C>T (p.Arg41Ter) single nucleotide variant X-linked severe congenital neutropenia [RCV001216267] ChrX:48683974 [GRCh38]
ChrX:48542363 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.1112C>T (p.Pro371Leu) single nucleotide variant X-linked severe congenital neutropenia [RCV001226803] ChrX:48688840 [GRCh38]
ChrX:48547229 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.142A>C (p.Thr48Pro) single nucleotide variant X-linked severe congenital neutropenia [RCV001204405] ChrX:48684292 [GRCh38]
ChrX:48542681 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1
pathogenic
NM_000377.3(WAS):c.1416C>T (p.His472=) single nucleotide variant not provided [RCV000873362] ChrX:48689397 [GRCh38]
ChrX:48547786 [GRCh37]
ChrX:Xp11.23
likely benign
NM_000377.3(WAS):c.1110A>C (p.Pro370=) single nucleotide variant not provided [RCV000860812] ChrX:48688838 [GRCh38]
ChrX:48547227 [GRCh37]
ChrX:Xp11.23
likely benign
NM_000377.3(WAS):c.1197A>G (p.Pro399=) single nucleotide variant X-linked severe congenital neutropenia [RCV000866874] ChrX:48688925 [GRCh38]
ChrX:48547314 [GRCh37]
ChrX:Xp11.23
likely benign
NM_000377.3(WAS):c.339C>T (p.Phe113=) single nucleotide variant X-linked severe congenital neutropenia [RCV000869477] ChrX:48685612 [GRCh38]
ChrX:48544001 [GRCh37]
ChrX:Xp11.23
likely benign
NM_000377.3(WAS):c.412C>T (p.Arg138Trp) single nucleotide variant X-linked severe congenital neutropenia [RCV001241967] ChrX:48685785 [GRCh38]
ChrX:48544174 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.164T>C (p.Leu55Pro) single nucleotide variant X-linked severe congenital neutropenia [RCV001218570] ChrX:48684314 [GRCh38]
ChrX:48542703 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.874G>A (p.Asp292Asn) single nucleotide variant X-linked severe congenital neutropenia [RCV001057863] ChrX:48688396 [GRCh38]
ChrX:48546785 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.311_312insAA (p.Leu105fs) insertion X-linked severe congenital neutropenia [RCV001069236] ChrX:48685583..48685584 [GRCh38]
ChrX:48543972..48543973 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.1272_1277delinsGCCTGG (p.Leu425_Ala426delinsProGly) indel X-linked severe congenital neutropenia [RCV001248465] ChrX:48689000..48689005 [GRCh38]
ChrX:48547389..48547394 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.320A>G (p.Tyr107Cys) single nucleotide variant not provided [RCV001091016] ChrX:48685593 [GRCh38]
ChrX:48543982 [GRCh37]
ChrX:Xp11.23
pathogenic
NC_000023.10:g.(?_48542233)_(48542384_?)del deletion X-linked severe congenital neutropenia [RCV001033142] ChrX:48542233..48542384 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.70T>C (p.Ser24Pro) single nucleotide variant X-linked severe congenital neutropenia [RCV001035433] ChrX:48683923 [GRCh38]
ChrX:48542312 [GRCh37]
ChrX:Xp11.23
likely pathogenic|uncertain significance
NM_000377.3(WAS):c.692del (p.Lys231fs) deletion X-linked severe congenital neutropenia [RCV001221529] ChrX:48686912 [GRCh38]
ChrX:48545301 [GRCh37]
ChrX:Xp11.23
pathogenic
NC_000023.10:g.(?_48543926)_(48652581_?)dup duplication Diamond-Blackfan anemia [RCV001033332] ChrX:48543926..48652581 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.436del (p.Gln146fs) deletion X-linked severe congenital neutropenia [RCV001058410] ChrX:48685809 [GRCh38]
ChrX:48544198 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.238C>T (p.Gln80Ter) single nucleotide variant X-linked severe congenital neutropenia [RCV001058741] ChrX:48684388 [GRCh38]
ChrX:48542777 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp11.23(chrX:48237630-48590047)x2 copy number gain not provided [RCV001007302] ChrX:48237630..48590047 [GRCh37]
ChrX:Xp11.23
uncertain significance
NC_000023.11:g.48686084_48686085del microsatellite Wiskott-Aldrich syndrome [RCV001194215] ChrX:48686079..48686080 [GRCh38]
ChrX:48544468..48544469 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter) single nucleotide variant X-linked severe congenital neutropenia [RCV001041620]|not provided [RCV001091017] ChrX:48688818 [GRCh38]
ChrX:48547207 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.35dup (p.Arg13fs) duplication X-linked severe congenital neutropenia [RCV001046712] ChrX:48683883..48683884 [GRCh38]
ChrX:48542272..48542273 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.172C>A (p.Pro58Thr) single nucleotide variant X-linked severe congenital neutropenia [RCV001047233] ChrX:48684322 [GRCh38]
ChrX:48542711 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.1174C>A (p.Pro392Thr) single nucleotide variant X-linked severe congenital neutropenia [RCV001047443] ChrX:48688902 [GRCh38]
ChrX:48547291 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.1058dup (p.Pro354fs) duplication X-linked severe congenital neutropenia [RCV001067557] ChrX:48688781..48688782 [GRCh38]
ChrX:48547170..48547171 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.946C>A (p.Pro316Thr) single nucleotide variant X-linked severe congenital neutropenia [RCV001070578] ChrX:48688674 [GRCh38]
ChrX:48547063 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.1423C>T (p.Gln475Ter) single nucleotide variant X-linked thrombocytopenia with normal platelets [RCV001029840] ChrX:48689404 [GRCh38]
ChrX:48547793 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.256C>T (p.Arg86Cys) single nucleotide variant Wiskott-Aldrich syndrome [RCV001328370]|X-linked severe congenital neutropenia [RCV001205113] ChrX:48684406 [GRCh38]
ChrX:48542795 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.1001dup (p.Gly334_Asn335insTer) duplication X-linked severe congenital neutropenia [RCV001220386] ChrX:48688723..48688724 [GRCh38]
ChrX:48547112..48547113 [GRCh37]
ChrX:Xp11.23
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 copy number gain not provided [RCV001007303] ChrX:48307437..50657313 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_000377.3(WAS):c.302_303insC (p.Tyr102fs) insertion X-linked severe congenital neutropenia [RCV001219012] ChrX:48685575..48685576 [GRCh38]
ChrX:48543964..48543965 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.1199C>T (p.Pro400Leu) single nucleotide variant X-linked severe congenital neutropenia [RCV001236034] ChrX:48688927 [GRCh38]
ChrX:48547316 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.1252G>T (p.Ala418Ser) single nucleotide variant X-linked severe congenital neutropenia [RCV001034405] ChrX:48688980 [GRCh38]
ChrX:48547369 [GRCh37]
ChrX:Xp11.23
benign
NM_000377.3(WAS):c.1252G>A (p.Ala418Thr) single nucleotide variant X-linked severe congenital neutropenia [RCV001047632] ChrX:48688980 [GRCh38]
ChrX:48547369 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.458G>T (p.Ser153Ile) single nucleotide variant X-linked severe congenital neutropenia [RCV001202870] ChrX:48685831 [GRCh38]
ChrX:48544220 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.1477G>A (p.Asp493Asn) single nucleotide variant X-linked severe congenital neutropenia [RCV001035075] ChrX:48691130 [GRCh38]
ChrX:48549521 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 copy number gain not provided [RCV001258953] ChrX:48102202..52685635 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 copy number gain not provided [RCV001258954] ChrX:48178413..52686510 [GRCh37]
ChrX:Xp11.23-11.22
pathogenic
NM_000377.3(WAS):c.1157del (p.Pro386fs) deletion Wiskott-Aldrich syndrome [RCV001255566] ChrX:48688881 [GRCh38]
ChrX:48547270 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_000377.3(WAS):c.296A>C (p.Gln99Pro) single nucleotide variant X-linked severe congenital neutropenia [RCV001301268] ChrX:48685569 [GRCh38]
ChrX:48543958 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.926G>A (p.Arg309His) single nucleotide variant X-linked severe congenital neutropenia [RCV001325803] ChrX:48688448 [GRCh38]
ChrX:48546837 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp11.23(chrX:48225025-48601326)x1 copy number loss not provided [RCV001258949] ChrX:48225025..48601326 [GRCh37]
ChrX:Xp11.23
pathogenic
NM_000377.3(WAS):c.1205C>T (p.Pro402Leu) single nucleotide variant X-linked severe congenital neutropenia [RCV001262560] ChrX:48688933 [GRCh38]
ChrX:48547322 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000377.3(WAS):c.227A>C (p.Lys76Thr) single nucleotide variant X-linked severe congenital neutropenia [RCV001348441] ChrX:48684377 [GRCh38]
ChrX:48542766 [GRCh37]
ChrX:Xp11.23
uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21
pathogenic
NM_000377.3(WAS):c.533C>T (p.Pro178Leu) single nucleotide variant X-linked severe congenital neutropenia [RCV001324243] ChrX:48686108 [GRCh38]
ChrX:48544497 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.274-9C>G single nucleotide variant X-linked severe congenital neutropenia [RCV001326493] ChrX:48685538 [GRCh38]
ChrX:48543927 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.1203_1211dup (p.Pro402_Pro404dup) duplication X-linked severe congenital neutropenia [RCV001340886] ChrX:48688925..48688926 [GRCh38]
ChrX:48547314..48547315 [GRCh37]
ChrX:Xp11.23
uncertain significance
NC_000023.10:g.(?_48382160)_(49856876_?)dup duplication Neurodegeneration with brain iron accumulation 5 [RCV001305099]|SLC35A2-CDG [RCV001308190] ChrX:48382160..49856876 [GRCh37]
ChrX:Xp11.23-11.22
uncertain significance
NM_000377.3(WAS):c.1482AGATGA[1] (p.494ED[1]) microsatellite X-linked severe congenital neutropenia [RCV001294627] ChrX:48691130..48691135 [GRCh38]
ChrX:48549521..48549526 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.1476C>T (p.Gly492=) single nucleotide variant X-linked severe congenital neutropenia [RCV001342646] ChrX:48691129 [GRCh38]
ChrX:48549520 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.982C>T (p.Arg328Trp) single nucleotide variant Wiskott-Aldrich syndrome [RCV001294166]|X-linked severe congenital neutropenia [RCV001346352] ChrX:48688710 [GRCh38]
ChrX:48547099 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.925C>T (p.Arg309Cys) single nucleotide variant X-linked severe congenital neutropenia [RCV001294393] ChrX:48688447 [GRCh38]
ChrX:48546836 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.1400_1404del (p.Val467fs) deletion X-linked severe congenital neutropenia [RCV001351992] ChrX:48689379..48689383 [GRCh38]
ChrX:48547768..48547772 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.726T>G (p.Ser242Arg) single nucleotide variant X-linked severe congenital neutropenia [RCV001300015] ChrX:48686947 [GRCh38]
ChrX:48545336 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.989C>T (p.Pro330Leu) single nucleotide variant X-linked severe congenital neutropenia [RCV001349478] ChrX:48688717 [GRCh38]
ChrX:48547106 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.802C>T (p.Arg268Trp) single nucleotide variant X-linked severe congenital neutropenia [RCV001317528] ChrX:48688324 [GRCh38]
ChrX:48546713 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.1075C>T (p.Pro359Ser) single nucleotide variant X-linked severe congenital neutropenia [RCV001308651] ChrX:48688803 [GRCh38]
ChrX:48547192 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.844A>G (p.Thr282Ala) single nucleotide variant X-linked severe congenital neutropenia [RCV001312371] ChrX:48688366 [GRCh38]
ChrX:48546755 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.869T>C (p.Ile290Thr) single nucleotide variant X-linked severe congenital neutropenia [RCV001280623] ChrX:48688391 [GRCh38]
ChrX:48546780 [GRCh37]
ChrX:Xp11.23
likely pathogenic
NM_000377.3(WAS):c.1130G>A (p.Arg377His) single nucleotide variant X-linked severe congenital neutropenia [RCV001343007] ChrX:48688858 [GRCh38]
ChrX:48547247 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.962G>A (p.Arg321Gln) single nucleotide variant X-linked severe congenital neutropenia [RCV001352412] ChrX:48688690 [GRCh38]
ChrX:48547079 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.713T>C (p.Ile238Thr) single nucleotide variant not provided [RCV001311068] ChrX:48686934 [GRCh38]
ChrX:48545323 [GRCh37]
ChrX:Xp11.23
uncertain significance
NC_000023.10:g.(?_48549478)_(48549573_?)dup duplication X-linked severe congenital neutropenia [RCV001294970] ChrX:48549478..48549573 [GRCh37]
ChrX:Xp11.23
uncertain significance
NM_000377.3(WAS):c.1156C>T (p.Pro386Ser) single nucleotide variant X-linked severe congenital neutropenia [RCV001323433] ChrX:48688884 [GRCh38]
ChrX:48547273 [GRCh37]
ChrX:Xp11.23
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12731 AgrOrtholog
COSMIC WAS COSMIC
Ensembl Genes ENSG00000015285 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000365891 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000410537 UniProtKB/TrEMBL
Ensembl Transcript ENST00000376701 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000450772 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.810.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000015285 GTEx
HGNC ID HGNC:12731 ENTREZGENE
Human Proteome Map WAS Human Proteome Map
InterPro CRIB_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CRIB_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WASP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WASP_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WASPfam_EVH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH1/EVH1_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7454 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7454 ENTREZGENE
OMIM 300299 OMIM
  300392 OMIM
  301000 OMIM
  313900 OMIM
PANTHER PTHR23202:SF79 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam PBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37342 PharmGKB
PROSITE CRIB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47912 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024QYX8 ENTREZGENE, UniProtKB/TrEMBL
  C9J3B7_HUMAN UniProtKB/TrEMBL
  P42768 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q9BU11 UniProtKB/Swiss-Prot
  Q9UNJ9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-02-19 WAS  WASP actin nucleation promoting factor    Wiskott-Aldrich syndrome  Symbol and/or name change 5135510 APPROVED
2012-07-24 WAS  Wiskott-Aldrich syndrome  WAS  Wiskott-Aldrich syndrome (eczema-thrombocytopenia)  Symbol and/or name change 5135510 APPROVED
2012-03-13 WAS  Wiskott-Aldrich syndrome (eczema-thrombocytopenia)  WAS  Wiskott-Aldrich syndrome (eczema-thrombocytopenia)  Symbol and/or name change 5135510 APPROVED
2011-08-16 WAS  Wiskott-Aldrich syndrome (eczema-thrombocytopenia)  WAS  Wiskott-Aldrich syndrome (eczema-thrombocytopenia)  Symbol and/or name change 5135510 APPROVED