IL2RG (interleukin 2 receptor subunit gamma) - Rat Genome Database

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Gene: IL2RG (interleukin 2 receptor subunit gamma) Homo sapiens
Analyze
Symbol: IL2RG
Name: interleukin 2 receptor subunit gamma
RGD ID: 731533
HGNC Page HGNC
Description: Exhibits interleukin-15 receptor activity. Is predicted to contribute to interleukin-2 receptor activity; interleukin-4 receptor activity; and interleukin-7 receptor activity. Involved in interleukin-15-mediated signaling pathway and positive regulation of phagocytosis. Localizes to cell surface. Implicated in X-linked severe combined immunodeficiency; combined T cell and B cell immunodeficiency; and severe combined immunodeficiency. Biomarker of COVID-19.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CD132; CD132 antigen; CIDX; combined immunodeficiency, X-linked; common cytokine receptor gamma chain; common gamma-chain; cytokine receptor common subunit gamma; gamma(c); gammaC; IL-2 receptor subunit gamma; IL-2R subunit gamma; IL-2RG; IMD4; interleukin 2 receptor, gamma; interleukin 2 receptor, gamma (severe combined immunodeficiency); interleukin 2 receptor, gamma chain; interleukin-2 receptor subunit gamma; nonfunctional common cytokine receptor gamma chain; P64; SCIDX; SCIDX1; severe combined immunodeficiency
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 EnsemblX71,107,404 - 71,112,108 (-)EnsemblGRCh38hg38GRCh38
GRCh38X71,107,404 - 71,111,577 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X70,327,254 - 70,331,427 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X70,243,984 - 70,248,128 (-)NCBINCBI36hg18NCBI36
Build 34X70,110,279 - 70,114,424NCBI
CeleraX70,681,159 - 70,685,386 (-)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX64,146,973 - 64,150,762 (-)NCBIHuRef
CHM1_1X70,219,589 - 70,223,820 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal lymphocyte morphology  (IAGP)
Abnormality of the metaphysis  (IAGP)
Abnormally low T cell receptor excision circle level  (IAGP)
Absent tonsils  (IAGP)
Agammaglobulinemia  (IAGP)
Alopecia  (IAGP)
Anemia  (IAGP)
Aplasia/Hypoplasia of the eyebrow  (IAGP)
Autoimmunity  (IAGP)
Chronic diarrhea  (IAGP)
Chronic oral candidiasis  (IAGP)
Combined immunodeficiency  (IAGP)
Cough  (IAGP)
Decreased circulating IgA level  (IAGP)
Decreased circulating IgE  (IAGP)
Decreased circulating IgG level  (IAGP)
Decreased circulating total IgM  (IAGP)
Decreased lymphocyte proliferation in response to mitogen  (IAGP)
Decreased proportion of CD3-positive T cells  (IAGP)
Decreased proportion of CD4-positive helper T cells  (IAGP)
Decreased proportion of CD8-positive T cells  (IAGP)
Decreased proportion of naive T cells  (IAGP)
Desquamation of skin soon after birth  (IAGP)
Diarrhea  (IAGP)
Dry skin  (IAGP)
Edema  (IAGP)
Eosinophilia  (IAGP)
Erythroderma  (IAGP)
Failure to thrive  (IAGP)
Fever  (IAGP)
Hepatomegaly  (IAGP)
Hypoplasia of the thymus  (IAGP)
Hypothyroidism  (IAGP)
Impaired lymphocyte transformation with phytohemagglutinin  (IAGP)
Increased circulating IgG level  (IAGP)
Infantile onset  (IAGP)
Jaundice  (IAGP)
Lymph node hypoplasia  (IAGP)
Lymphadenopathy  (IAGP)
Lymphoma  (IAGP)
Lymphoproliferative disorder  (IAGP)
Neonatal onset  (IAGP)
Nephrotic syndrome  (IAGP)
Otitis media  (IAGP)
Pneumonia  (IAGP)
Pruritus  (IAGP)
Recurrent bacterial meningitis  (IAGP)
Recurrent bacterial skin infections  (IAGP)
Recurrent bronchitis  (IAGP)
Recurrent fever  (IAGP)
Recurrent fungal infections  (IAGP)
Recurrent Haemophilus influenzae infections  (IAGP)
Recurrent herpes  (IAGP)
Recurrent opportunistic infections  (IAGP)
Recurrent pneumonia  (IAGP)
Reduced natural killer cell activity  (IAGP)
Reduced natural killer cell count  (IAGP)
Schizophrenia  (IAGP)
Sepsis  (IAGP)
Severe combined immunodeficiency  (IAGP)
Severe recurrent varicella  (IAGP)
Short toe  (IAGP)
Sinusitis  (IAGP)
Skin rash  (IAGP)
Splenomegaly  (IAGP)
T lymphocytopenia  (IAGP)
Thickened skin  (IAGP)
Thyroiditis  (IAGP)
X-linked recessive inheritance  (IAGP)
References

Additional References at PubMed
PMID:1631559   PMID:1976256   PMID:2315327   PMID:2843775   PMID:7529123   PMID:7641685   PMID:7668284   PMID:7706294   PMID:7860773   PMID:7883965   PMID:7937790   PMID:7973658  
PMID:7973659   PMID:8027558   PMID:8041779   PMID:8049354   PMID:8088810   PMID:8266076   PMID:8266077   PMID:8266078   PMID:8299698   PMID:8378320   PMID:8401490   PMID:8462096  
PMID:8493579   PMID:8514792   PMID:8568232   PMID:8643566   PMID:8648694   PMID:8900089   PMID:9010926   PMID:9150740   PMID:9169421   PMID:9326644   PMID:9341758   PMID:9399950  
PMID:9637477   PMID:9797872   PMID:9799097   PMID:10662798   PMID:10825200   PMID:11418623   PMID:11418669   PMID:11426455   PMID:11750878   PMID:11856346   PMID:11858939   PMID:11886175  
PMID:12036606   PMID:12200137   PMID:12207328   PMID:12242343   PMID:12370829   PMID:12477932   PMID:12504082   PMID:14680494   PMID:14726805   PMID:15123770   PMID:15489334   PMID:15702055  
PMID:16293754   PMID:16477002   PMID:17082603   PMID:17363735   PMID:17474147   PMID:17703412   PMID:18417356   PMID:18589435   PMID:18791162   PMID:18829468   PMID:19011158   PMID:19234229  
PMID:19258923   PMID:19494261   PMID:19615332   PMID:19734221   PMID:19802382   PMID:19812686   PMID:19859091   PMID:19923221   PMID:19946888   PMID:20237496   PMID:20301584   PMID:20351267  
PMID:20503287   PMID:20592278   PMID:20816854   PMID:21715655   PMID:21831415   PMID:21873635   PMID:21988832   PMID:22039266   PMID:22223761   PMID:22363690   PMID:22645657   PMID:22737248  
PMID:23341462   PMID:23403317   PMID:23683512   PMID:23733874   PMID:23790094   PMID:23940110   PMID:24713359   PMID:24771849   PMID:25109334   PMID:25275127   PMID:25416956   PMID:26076747  
PMID:26125817   PMID:26183780   PMID:26186194   PMID:26407811   PMID:26409833   PMID:26468051   PMID:26551670   PMID:26748725   PMID:27195783   PMID:27375898   PMID:27463037   PMID:27502164  
PMID:27566612   PMID:27742835   PMID:28497365   PMID:28514442   PMID:28963568   PMID:29388853   PMID:29728406   PMID:30089695   PMID:30129110   PMID:30800133   PMID:30850927   PMID:31515488  
PMID:31545408   PMID:31799703   PMID:32248706   PMID:32296183  


Genomics

Comparative Map Data
IL2RG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX71,107,404 - 71,112,108 (-)EnsemblGRCh38hg38GRCh38
GRCh38X71,107,404 - 71,111,577 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X70,327,254 - 70,331,427 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X70,243,984 - 70,248,128 (-)NCBINCBI36hg18NCBI36
Build 34X70,110,279 - 70,114,424NCBI
CeleraX70,681,159 - 70,685,386 (-)NCBI
Cytogenetic MapXq13.1NCBI
HuRefX64,146,973 - 64,150,762 (-)NCBIHuRef
CHM1_1X70,219,589 - 70,223,820 (-)NCBICHM1_1
Il2rg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X100,307,991 - 100,311,861 (-)NCBIGRCm39mm39
GRCm39 EnsemblX100,307,984 - 100,311,861 (-)Ensembl
GRCm38X101,264,385 - 101,268,255 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX101,264,378 - 101,268,255 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X98,459,726 - 98,463,545 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X97,467,106 - 97,470,925 (-)NCBImm8
CeleraX88,180,558 - 88,184,377 (-)NCBICelera
Cytogenetic MapXDNCBI
cM MapX43.9NCBI
Il2rg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X66,395,330 - 66,399,026 (-)NCBI
Rnor_6.0 EnsemblX71,162,585 - 71,169,865 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X71,165,378 - 71,169,078 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X72,017,856 - 72,021,516 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X89,342,055 - 89,345,715 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X89,416,495 - 89,419,068 (-)NCBI
CeleraX66,751,239 - 66,754,899 (-)NCBICelera
Cytogenetic MapXq22NCBI
Il2rg
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495547510,676,592 - 10,680,565 (-)NCBIChiLan1.0ChiLan1.0
IL2RG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X70,433,355 - 70,437,590 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0X60,375,815 - 60,386,936 (-)NCBIMhudiblu_PPA_v0panPan3
IL2RG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X55,480,846 - 55,488,485 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX55,481,092 - 55,484,751 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX46,308,162 - 46,311,760 (-)NCBI
ROS_Cfam_1.0X56,449,759 - 56,453,658 (-)NCBI
UMICH_Zoey_3.1X54,418,234 - 54,421,830 (-)NCBI
UNSW_CanFamBas_1.0X55,749,655 - 55,753,253 (-)NCBI
UU_Cfam_GSD_1.0X55,676,806 - 55,680,404 (-)NCBI
Dog CytomapXqNCBI
Il2rg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X46,725,215 - 46,728,870 (+)NCBI
SpeTri2.0NW_004936762487,414 - 491,028 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IL2RG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X57,143,568 - 57,151,242 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X64,674,048 - 64,677,372 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig CytomapXq13NCBI
IL2RG
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X60,905,011 - 60,915,723 (-)NCBI
Vero_WHO_p1.0NW_0236660652,765,485 - 2,776,292 (-)NCBI
Il2rg
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249031,402,586 - 1,406,554 (-)NCBI

Position Markers
SGC35235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X70,327,314 - 70,327,517UniSTSGRCh37
Build 36X70,244,039 - 70,244,242RGDNCBI36
CeleraX70,681,219 - 70,681,422RGD
Cytogenetic MapXq13.1UniSTS
HuRefX64,147,033 - 64,147,236UniSTS
Whitehead-RH MapX163.3UniSTS
NCBI RH MapX458.3UniSTS
IL2RG  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X70,327,468 - 70,327,847UniSTSGRCh37
GRCh37X70,330,728 - 70,330,788UniSTSGRCh37
GRCh37X70,330,756 - 70,331,401UniSTSGRCh37
GRCh37X70,330,190 - 70,330,324UniSTSGRCh37
Build 36X70,247,481 - 70,248,126RGDNCBI36
CeleraX70,684,661 - 70,685,306RGD
CeleraX70,684,633 - 70,684,693UniSTS
CeleraX70,681,373 - 70,681,752UniSTS
CeleraX70,684,095 - 70,684,229UniSTS
Cytogenetic MapXq13.1UniSTS
HuRefX64,150,033 - 64,150,682UniSTS
HuRefX64,147,187 - 64,147,566UniSTS
GDB:607640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X70,330,855 - 70,331,383UniSTSGRCh37
Build 36X70,247,580 - 70,248,108RGDNCBI36
CeleraX70,684,760 - 70,685,288RGD
Cytogenetic MapXq13.1UniSTS
HuRefX64,150,132 - 64,150,664UniSTS
RH11053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X70,330,788 - 70,330,980UniSTSGRCh37
Build 36X70,247,513 - 70,247,705RGDNCBI36
CeleraX70,684,693 - 70,684,885RGD
Cytogenetic MapXq13.1UniSTS
HuRefX64,150,065 - 64,150,257UniSTS
GeneMap99-GB4 RH MapX231.63UniSTS
NCBI RH MapX365.4UniSTS
RH17366  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X70,327,420 - 70,327,556UniSTSGRCh37
Build 36X70,244,145 - 70,244,281RGDNCBI36
CeleraX70,681,325 - 70,681,461RGD
Cytogenetic MapXq13.1UniSTS
HuRefX64,147,139 - 64,147,275UniSTS
GeneMap99-GB4 RH MapX238.8UniSTS
GDB:375720  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq13.1UniSTS
IL2RG  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq13.1UniSTS
IL2RG  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq13.1UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2018
Count of miRNA genes:810
Interacting mature miRNAs:963
Transcripts:ENST00000276110, ENST00000374188, ENST00000374202, ENST00000456850, ENST00000464642, ENST00000473378, ENST00000482750, ENST00000487883, ENST00000512747
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 18 19
Medium 753 934 301 221 1876 111 516 18 78 149 265 848 111 631 116 2 2
Low 1646 1925 1404 393 45 343 3411 1961 3095 206 1093 592 58 1 573 2497 1
Below cutoff 33 114 18 9 11 10 378 205 533 45 75 112 3 175 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NG_021141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB102793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB102797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY692262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D11086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D16358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC345219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN051377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN061222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP186138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L19546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000276110
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,107,404 - 71,111,550 (-)Ensembl
RefSeq Acc Id: ENST00000374188   ⟹   ENSP00000363303
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,107,409 - 71,111,631 (-)Ensembl
RefSeq Acc Id: ENST00000374202   ⟹   ENSP00000363318
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,107,404 - 71,111,577 (-)Ensembl
RefSeq Acc Id: ENST00000456850   ⟹   ENSP00000388967
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,107,736 - 71,111,448 (-)Ensembl
RefSeq Acc Id: ENST00000464642   ⟹   ENSP00000425233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,108,662 - 71,112,108 (-)Ensembl
RefSeq Acc Id: ENST00000473378   ⟹   ENSP00000423601
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,110,597 - 71,111,554 (-)Ensembl
RefSeq Acc Id: ENST00000482750   ⟹   ENSP00000421262
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,107,716 - 71,110,162 (-)Ensembl
RefSeq Acc Id: ENST00000487883
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,110,186 - 71,111,560 (-)Ensembl
RefSeq Acc Id: ENST00000512747
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX71,107,409 - 71,111,606 (-)Ensembl
RefSeq Acc Id: NM_000206   ⟹   NP_000197
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X71,107,404 - 71,111,577 (-)NCBI
GRCh37X70,327,254 - 70,331,481 (-)ENTREZGENE
GRCh37X70,327,254 - 70,331,481 (-)NCBI
Build 36X70,243,984 - 70,248,128 (-)NCBI Archive
HuRefX64,146,973 - 64,150,762 (-)ENTREZGENE
CHM1_1X70,219,589 - 70,223,820 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000197   ⟸   NM_000206
- Peptide Label: precursor
- UniProtKB: P31785 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000425233   ⟸   ENST00000464642
RefSeq Acc Id: ENSP00000363318   ⟸   ENST00000374202
RefSeq Acc Id: ENSP00000363303   ⟸   ENST00000374188
RefSeq Acc Id: ENSP00000388967   ⟸   ENST00000456850
RefSeq Acc Id: ENSP00000421262   ⟸   ENST00000482750
RefSeq Acc Id: ENSP00000423601   ⟸   ENST00000473378
Protein Domains
Fibronectin type-III   IL6Ra-bind

Promoters
RGD ID:6808953
Promoter ID:HG_KWN:67157
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC004DYV.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X70,245,516 - 70,246,902 (-)MPROMDB
RGD ID:6808950
Promoter ID:HG_KWN:67158
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000057101
Position:
Human AssemblyChrPosition (strand)Source
Build 36X70,246,991 - 70,247,491 (-)MPROMDB
RGD ID:6808732
Promoter ID:HG_KWN:67159
Type:Non-CpG
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:ENST00000374188,   ENST00000374191,   NM_000206,   OTTHUMT00000057099,   OTTHUMT00000057100,   OTTHUMT00000057103,   UC004DYX.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X70,247,551 - 70,249,347 (-)MPROMDB
RGD ID:6852004
Promoter ID:EP73808
Type:multiple initiation site
Name:HS_IL2RG
Description:Interleukin 2 receptor, gamma (severe combined immunodeficiency).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36X70,248,150 - 70,248,210EPD
RGD ID:13627396
Promoter ID:EPDNEW_H28973
Type:initiation region
Name:IL2RG_1
Description:interleukin 2 receptor subunit gamma
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X71,111,575 - 71,111,635EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000206.2(IL2RG):c.903_910del (p.Glu302fs) deletion X-linked severe combined immunodeficiency [RCV000556829] ChrX:71108291..71108298 [GRCh38]
ChrX:70328141..70328148 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.846G>A (p.Trp282Ter) single nucleotide variant not provided [RCV000521269] ChrX:71108607 [GRCh38]
ChrX:70328457 [GRCh37]
ChrX:Xq13.1
pathogenic
NC_000023.11:g.(?_71108277)_(71108346_?)del deletion X-linked severe combined immunodeficiency [RCV000526001] ChrX:71108277..71108346 [GRCh38]
ChrX:70328127..70328196 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.455T>G (p.Val152Gly) single nucleotide variant X-linked severe combined immunodeficiency [RCV000766121] ChrX:71110295 [GRCh38]
ChrX:70330145 [GRCh37]
ChrX:Xq13.1
pathogenic
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
IL2RG, ARG267TER single nucleotide variant X-linked severe combined immunodeficiency [RCV000010700] ChrX:Xq13 pathogenic
NM_000206.2(IL2RG):c.454+1G>A single nucleotide variant X-linked severe combined immunodeficiency [RCV000010704] ChrX:71110503 [GRCh38]
ChrX:70330353 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.703_711dup (p.Gln235_Trp237dup) duplication X-linked severe combined immunodeficiency [RCV000010707] ChrX:71109273..71109274 [GRCh38]
ChrX:70329123..70329124 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.421C>T (p.Gln141Ter) single nucleotide variant X-linked severe combined immunodeficiency [RCV000990859]|not provided [RCV000519478] ChrX:71110537 [GRCh38]
ChrX:70330387 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.855-8C>T single nucleotide variant not provided [RCV000546828] ChrX:71108354 [GRCh38]
ChrX:70328204 [GRCh37]
ChrX:Xq13.1
likely benign
NM_000206.2(IL2RG):c.355A>T (p.Lys119Ter) single nucleotide variant X-linked severe combined immunodeficiency [RCV000010699] ChrX:71110603 [GRCh38]
ChrX:70330453 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.923C>A (p.Ser308Ter) single nucleotide variant X-linked severe combined immunodeficiency [RCV000010701] ChrX:71108278 [GRCh38]
ChrX:70328128 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.186T>A (p.Cys62Ter) single nucleotide variant X-linked severe combined immunodeficiency [RCV000010702] ChrX:71110980 [GRCh38]
ChrX:70330830 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.341G>A (p.Gly114Asp) single nucleotide variant X-linked severe combined immunodeficiency [RCV000010703] ChrX:71110617 [GRCh38]
ChrX:70330467 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.458T>A (p.Ile153Asn) single nucleotide variant X-linked severe combined immunodeficiency [RCV000010705] ChrX:71110292 [GRCh38]
ChrX:70330142 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.878T>A (p.Leu293Gln) single nucleotide variant Combined immunodeficiency, X-linked [RCV000010706]|X-linked severe combined immunodeficiency [RCV001038281] ChrX:71108323 [GRCh38]
ChrX:70328173 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.343T>C (p.Cys115Arg) single nucleotide variant X-linked severe combined immunodeficiency [RCV000010708] ChrX:71110615 [GRCh38]
ChrX:70330465 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.854G>A (p.Arg285Gln) single nucleotide variant X-linked severe combined immunodeficiency [RCV000010709] ChrX:71108599 [GRCh38]
ChrX:70328449 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.664C>T (p.Arg222Cys) single nucleotide variant Combined immunodeficiency, X-linked [RCV000010710]|Inborn genetic diseases [RCV000622428] ChrX:71109321 [GRCh38]
ChrX:70329171 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.452T>C (p.Leu151Pro) single nucleotide variant X-linked severe combined immunodeficiency [RCV000010711] ChrX:71110506 [GRCh38]
ChrX:70330356 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.270-1G>T single nucleotide variant X-linked severe combined immunodeficiency [RCV000030053]|not provided [RCV000430650] ChrX:71110689 [GRCh38]
ChrX:70330539 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic
NM_000206.2(IL2RG):c.314A>G (p.Tyr105Cys) single nucleotide variant X-linked severe combined immunodeficiency [RCV000030054] ChrX:71110644 [GRCh38]
ChrX:70330494 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000206.2(IL2RG):c.455T>C (p.Val152Ala) single nucleotide variant X-linked severe combined immunodeficiency [RCV000030055] ChrX:71110295 [GRCh38]
ChrX:70330145 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000206.2(IL2RG):c.662T>C (p.Phe221Ser) single nucleotide variant X-linked severe combined immunodeficiency [RCV000030056] ChrX:71109323 [GRCh38]
ChrX:70329173 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000206.2(IL2RG):c.710G>A (p.Trp237Ter) single nucleotide variant X-linked severe combined immunodeficiency [RCV000030057] ChrX:71109275 [GRCh38]
ChrX:70329125 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000206.2(IL2RG):c.865C>T (p.Arg289Ter) single nucleotide variant X-linked severe combined immunodeficiency [RCV000030058]|not provided [RCV000255488] ChrX:71108336 [GRCh38]
ChrX:70328186 [GRCh37]
ChrX:Xq13.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)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 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 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 Xq11.1-13.1(chrX:62712219-71136309)x2 copy number gain See cases [RCV000052415] ChrX:62712219..71136309 [GRCh38]
ChrX:61931689..70356159 [GRCh37]
ChrX:61848414..70272884 [NCBI36]
ChrX:Xq11.1-13.1
pathogenic
GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2 copy number gain See cases [RCV000052416] ChrX:67621041..76868590 [GRCh38]
ChrX:66840883..76009501 [GRCh37]
ChrX:66757608..76005403 [NCBI36]
ChrX:Xq12-21.1
pathogenic
GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2 copy number gain See cases [RCV000052417] ChrX:68382004..75243150 [GRCh38]
ChrX:67601846..74462985 [GRCh37]
ChrX:67518571..74379710 [NCBI36]
ChrX:Xq12-13.3
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 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_000206.3(IL2RG):c.395T>G (p.Leu132Arg) single nucleotide variant X-linked severe combined immunodeficiency [RCV001348095] ChrX:71110563 [GRCh38]
ChrX:70330413 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.3(IL2RG):c.514C>A (p.Leu172Met) single nucleotide variant X-linked severe combined immunodeficiency [RCV001348578] ChrX:71110236 [GRCh38]
ChrX:70330086 [GRCh37]
ChrX:Xq13.1
uncertain significance
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: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-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: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 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31
pathogenic
GRCh38/hg38 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: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-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 Xq13.1(chrX:70974174-71207055)x2 copy number gain See cases [RCV000136018] ChrX:70974174..71207055 [GRCh38]
ChrX:70194024..70426905 [GRCh37]
ChrX:70110749..70343630 [NCBI36]
ChrX:Xq13.1
uncertain significance
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-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-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 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3
pathogenic
GRCh38/hg38 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-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24
pathogenic
GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1
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 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3
pathogenic
GRCh38/hg38 Xq13.1(chrX:71071787-71777197)x2 copy number gain See cases [RCV000143302] ChrX:71071787..71777197 [GRCh38]
ChrX:70291637..70997047 [GRCh37]
ChrX:70208362..70913772 [NCBI36]
ChrX:Xq13.1
uncertain significance
GRCh38/hg38 Xq13.1(chrX:71022322-71682982)x2 copy number gain See cases [RCV000143525] ChrX:71022322..71682982 [GRCh38]
ChrX:70242172..70902832 [GRCh37]
ChrX:70158897..70819557 [NCBI36]
ChrX:Xq13.1
uncertain significance
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_000206.2(IL2RG):c.270-15A>G single nucleotide variant X-linked severe combined immunodeficiency [RCV000539319]|not provided [RCV000255206] ChrX:71110703 [GRCh38]
ChrX:70330553 [GRCh37]
ChrX:Xq13.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000206.2(IL2RG):c.670C>T (p.Arg224Trp) single nucleotide variant Combined immunodeficiency, X-linked [RCV000853368]|X-linked severe combined immunodeficiency [RCV000210828]|not provided [RCV000255579] ChrX:71109315 [GRCh38]
ChrX:70329165 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.676C>T (p.Arg226Cys) single nucleotide variant Combined immunodeficiency, X-linked [RCV000763631]|Combined immunodeficiency, X-linked [RCV000853350]|X-linked severe combined immunodeficiency [RCV000210834]|not provided [RCV000256109] ChrX:71109309 [GRCh38]
ChrX:70329159 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.677G>A (p.Arg226His) single nucleotide variant X-linked severe combined immunodeficiency [RCV000210841]|not provided [RCV000431556] ChrX:71109308 [GRCh38]
ChrX:70329158 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.47T>C (p.Leu16Pro) single nucleotide variant X-linked severe combined immunodeficiency [RCV000234914] ChrX:71111493 [GRCh38]
ChrX:70331343 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000206.2(IL2RG):c.344G>A (p.Cys115Tyr) single nucleotide variant X-linked severe combined immunodeficiency [RCV000554205] ChrX:71110614 [GRCh38]
ChrX:70330464 [GRCh37]
ChrX:Xq13.1
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.3-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:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000206.2(IL2RG):c.*290T>C single nucleotide variant X-linked severe combined immunodeficiency [RCV000272760] ChrX:71107446 [GRCh38]
ChrX:70327296 [GRCh37]
ChrX:Xq13.1
benign|uncertain significance
NM_000206.2(IL2RG):c.*133G>A single nucleotide variant X-linked severe combined immunodeficiency [RCV000309198] ChrX:71107603 [GRCh38]
ChrX:70327453 [GRCh37]
ChrX:Xq13.1
likely benign|uncertain significance
NM_000206.2(IL2RG):c.92A>G (p.Asn31Ser) single nucleotide variant X-linked severe combined immunodeficiency [RCV000922028] ChrX:71111448 [GRCh38]
ChrX:70331298 [GRCh37]
ChrX:Xq13.1
benign|likely benign
NM_000206.2(IL2RG):c.858G>A (p.Thr286=) single nucleotide variant X-linked severe combined immunodeficiency [RCV000921389] ChrX:71108343 [GRCh38]
ChrX:70328193 [GRCh37]
ChrX:Xq13.1
benign|likely benign
NM_000206.2(IL2RG):c.595-7C>T single nucleotide variant X-linked severe combined immunodeficiency [RCV000277320] ChrX:71109397 [GRCh38]
ChrX:70329247 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.2(IL2RG):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV000301048] ChrX:71111538 [GRCh38]
ChrX:70331388 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.-66T>C single nucleotide variant X-linked severe combined immunodeficiency [RCV000319408] ChrX:71111605 [GRCh38]
ChrX:70331455 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.2(IL2RG):c.325G>A (p.Glu109Lys) single nucleotide variant X-linked severe combined immunodeficiency [RCV000638846]|not specified [RCV000610972] ChrX:71110633 [GRCh38]
ChrX:70330483 [GRCh37]
ChrX:Xq13.1
benign|likely benign
NM_000206.2(IL2RG):c.167C>T (p.Pro56Leu) single nucleotide variant X-linked severe combined immunodeficiency [RCV000386941] ChrX:71110999 [GRCh38]
ChrX:70330849 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.2(IL2RG):c.758-1G>A single nucleotide variant X-linked severe combined immunodeficiency [RCV000553796]|not provided [RCV000393951] ChrX:71108696 [GRCh38]
ChrX:70328546 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic
NM_000206.2(IL2RG):c.924+1G>A single nucleotide variant not provided [RCV000262303] ChrX:71108276 [GRCh38]
ChrX:70328126 [GRCh37]
ChrX:Xq13.1
pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_000206.2(IL2RG):c.821T>C (p.Ile274Thr) single nucleotide variant X-linked severe combined immunodeficiency [RCV000638842]|not provided [RCV000788285] ChrX:71108632 [GRCh38]
ChrX:70328482 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.2(IL2RG):c.281C>A (p.Ser94Ter) single nucleotide variant not provided [RCV000579336] ChrX:71110677 [GRCh38]
ChrX:70330527 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.427del (p.Thr143fs) deletion not provided [RCV000599016] ChrX:71110531 [GRCh38]
ChrX:70330381 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.703C>T (p.Gln235Ter) single nucleotide variant X-linked severe combined immunodeficiency [RCV001192507]|not provided [RCV000599519] ChrX:71109282 [GRCh38]
ChrX:70329132 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.522G>A (p.Trp174Ter) single nucleotide variant X-linked severe combined immunodeficiency [RCV000638840] ChrX:71110228 [GRCh38]
ChrX:70330078 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.347A>C (p.Gln116Pro) single nucleotide variant not provided [RCV000523698] ChrX:71110611 [GRCh38]
ChrX:70330461 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.2(IL2RG):c.602C>G (p.Ser201Ter) single nucleotide variant X-linked severe combined immunodeficiency [RCV000525527] ChrX:71109383 [GRCh38]
ChrX:70329233 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.43C>T (p.Gln15Ter) single nucleotide variant X-linked severe combined immunodeficiency [RCV001251321]|not provided [RCV000412822] ChrX:71111497 [GRCh38]
ChrX:70331347 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic
NM_000206.2(IL2RG):c.720G>A (p.Trp240Ter) single nucleotide variant X-linked severe combined immunodeficiency [RCV000538891] ChrX:71109265 [GRCh38]
ChrX:70329115 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.718T>C (p.Trp240Arg) single nucleotide variant not provided [RCV000413285] ChrX:71109267 [GRCh38]
ChrX:70329117 [GRCh37]
ChrX:Xq13.1
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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_000206.2(IL2RG):c.202G>A (p.Glu68Lys) single nucleotide variant Combined immunodeficiency, X-linked [RCV001253325]|X-linked severe combined immunodeficiency [RCV000638843]|not provided [RCV000427716] ChrX:71110964 [GRCh38]
ChrX:70330814 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic
NM_000206.2(IL2RG):c.260T>C (p.Leu87Pro) single nucleotide variant not provided [RCV000426062] ChrX:71110906 [GRCh38]
ChrX:70330756 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.2(IL2RG):c.467C>T (p.Ala156Val) single nucleotide variant X-linked severe combined immunodeficiency [RCV001235346]|not provided [RCV000435698] ChrX:71110283 [GRCh38]
ChrX:70330133 [GRCh37]
ChrX:Xq13.1
likely 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 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000206.2(IL2RG):c.328del (p.Glu110fs) deletion not provided [RCV000482132] ChrX:71110630 [GRCh38]
ChrX:70330480 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.980A>G (p.Glu327Gly) single nucleotide variant not provided [RCV000483465] ChrX:71107866 [GRCh38]
ChrX:70327716 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000206.2(IL2RG):c.982C>T (p.Arg328Ter) single nucleotide variant Combined immunodeficiency, X-linked [RCV001090163]|X-linked severe combined immunodeficiency [RCV000586219]|not provided [RCV000483975] ChrX:71107864 [GRCh38]
ChrX:70327714 [GRCh37]
ChrX:Xq13.1
pathogenic|likely pathogenic
NM_000206.2(IL2RG):c.545G>A (p.Cys182Tyr) single nucleotide variant not provided [RCV000478606]|not specified [RCV001192508] ChrX:71110205 [GRCh38]
ChrX:70330055 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000206.2(IL2RG):c.460C>T (p.Pro154Ser) single nucleotide variant not provided [RCV000480139] ChrX:71110290 [GRCh38]
ChrX:70330140 [GRCh37]
ChrX:Xq13.1
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23
pathogenic
NM_000206.2(IL2RG):c.207_211dup (p.Asn71delinsThrTer) duplication not provided [RCV000498292] ChrX:71110954..71110955 [GRCh38]
ChrX:70330804..70330805 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.391C>T (p.Gln131Ter) single nucleotide variant not provided [RCV000493602] ChrX:71110567 [GRCh38]
ChrX:70330417 [GRCh37]
ChrX:Xq13.1
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000206.2(IL2RG):c.190G>A (p.Val64Met) single nucleotide variant not provided [RCV000494129] ChrX:71110976 [GRCh38]
ChrX:70330826 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1
pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq13.1(chrX:70287671-70997047)x3 copy number gain See cases [RCV000511625] ChrX:70287671..70997047 [GRCh37]
ChrX:Xq13.1
uncertain significance
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 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000206.2(IL2RG):c.215G>T (p.Cys72Phe) single nucleotide variant X-linked severe combined immunodeficiency [RCV000524824] ChrX:71110951 [GRCh38]
ChrX:70330801 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.2(IL2RG):c.548del (p.Leu183fs) deletion X-linked severe combined immunodeficiency [RCV000638841] ChrX:71110202 [GRCh38]
ChrX:70330052 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.258_261dup (p.His88fs) duplication not provided [RCV000514620] ChrX:71110904..71110905 [GRCh38]
ChrX:70330754..70330755 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.562C>T (p.Gln188Ter) single nucleotide variant X-linked severe combined immunodeficiency [RCV000550914] ChrX:71110188 [GRCh38]
ChrX:70330038 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.231C>T (p.Ser77=) single nucleotide variant X-linked severe combined immunodeficiency [RCV000638845] ChrX:71110935 [GRCh38]
ChrX:70330785 [GRCh37]
ChrX:Xq13.1
likely benign
NM_000206.2(IL2RG):c.855-1G>A single nucleotide variant X-linked severe combined immunodeficiency [RCV000531954] ChrX:71108347 [GRCh38]
ChrX:70328197 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000206.2(IL2RG):c.100G>T (p.Glu34Ter) single nucleotide variant X-linked severe combined immunodeficiency [RCV000536305] ChrX:71111440 [GRCh38]
ChrX:70331290 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.406C>T (p.Arg136Trp) single nucleotide variant X-linked severe combined immunodeficiency [RCV000638844] ChrX:71110552 [GRCh38]
ChrX:70330402 [GRCh37]
ChrX:Xq13.1
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 Xq13.1(chrX:70287671-70997047)x2 copy number gain See cases [RCV000512522] ChrX:70287671..70997047 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000206.2(IL2RG):c.675C>G (p.Ser225Arg) single nucleotide variant X-linked severe combined immunodeficiency [RCV000686497] ChrX:71109310 [GRCh38]
ChrX:70329160 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.2(IL2RG):c.-105C>T single nucleotide variant X-linked severe combined immunodeficiency [RCV000698228] ChrX:71111644 [GRCh38]
ChrX:70331494 [GRCh37]
ChrX:Xq13.1
uncertain significance
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_000206.2(IL2RG):c.270G>A (p.Trp90Ter) single nucleotide variant X-linked severe combined immunodeficiency [RCV000690121] ChrX:71110688 [GRCh38]
ChrX:70330538 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.580G>T (p.Asp194Tyr) single nucleotide variant X-linked severe combined immunodeficiency [RCV000705458] ChrX:71110170 [GRCh38]
ChrX:70330020 [GRCh37]
ChrX:Xq13.1
uncertain significance
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 Xq13.1(chrX:70313664-70568458)x2 copy number gain not provided [RCV000753588] ChrX:70313664..70568458 [GRCh37]
ChrX:Xq13.1
benign
GRCh37/hg19 Xq13.1(chrX:70323237-70431963)x2 copy number gain not provided [RCV000753589] ChrX:70323237..70431963 [GRCh37]
ChrX:Xq13.1
benign
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:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
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
NM_000206.3(IL2RG):c.504C>T (p.Ser168=) single nucleotide variant not provided [RCV000982259] ChrX:71110246 [GRCh38]
ChrX:70330096 [GRCh37]
ChrX:Xq13.1
likely benign
NM_000206.3(IL2RG):c.759G>T (p.Glu253Asp) single nucleotide variant X-linked severe combined immunodeficiency [RCV000942145] ChrX:71108694 [GRCh38]
ChrX:70328544 [GRCh37]
ChrX:Xq13.1
benign
NM_000206.3(IL2RG):c.653G>A (p.Arg218His) single nucleotide variant not provided [RCV000946224] ChrX:71109332 [GRCh38]
ChrX:70329182 [GRCh37]
ChrX:Xq13.1
benign
NM_000206.3(IL2RG):c.78A>T (p.Thr26=) single nucleotide variant X-linked severe combined immunodeficiency [RCV000892628] ChrX:71111462 [GRCh38]
ChrX:70331312 [GRCh37]
ChrX:Xq13.1
benign|likely benign
NM_000206.3(IL2RG):c.396C>T (p.Leu132=) single nucleotide variant X-linked severe combined immunodeficiency [RCV000904600] ChrX:71110562 [GRCh38]
ChrX:70330412 [GRCh37]
ChrX:Xq13.1
benign
NM_000206.3(IL2RG):c.953C>T (p.Ala318Val) single nucleotide variant X-linked severe combined immunodeficiency [RCV000927082] ChrX:71107893 [GRCh38]
ChrX:70327743 [GRCh37]
ChrX:Xq13.1
benign
NM_000206.3(IL2RG):c.816G>A (p.Leu272=) single nucleotide variant X-linked severe combined immunodeficiency [RCV000983669] ChrX:71108637 [GRCh38]
ChrX:70328487 [GRCh37]
ChrX:Xq13.1
likely benign
NM_000206.3(IL2RG):c.1066C>T (p.Pro356Ser) single nucleotide variant X-linked severe combined immunodeficiency [RCV001034384] ChrX:71107780 [GRCh38]
ChrX:70327630 [GRCh37]
ChrX:Xq13.1
likely benign
NM_000206.3(IL2RG):c.1042G>A (p.Ala348Thr) single nucleotide variant X-linked severe combined immunodeficiency [RCV001060963] ChrX:71107804 [GRCh38]
ChrX:70327654 [GRCh37]
ChrX:Xq13.1
likely benign|uncertain significance
NM_000206.2(IL2RG):c.465G>A (p.Trp155Ter) single nucleotide variant X-linked severe combined immunodeficiency [RCV000781480] ChrX:71110285 [GRCh38]
ChrX:70330135 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000206.2(IL2RG):c.*306A>C single nucleotide variant not provided [RCV000788712] ChrX:71107430 [GRCh38]
ChrX:70327280 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.3(IL2RG):c.159C>T (p.Ser53=) single nucleotide variant X-linked severe combined immunodeficiency [RCV000982533] ChrX:71111007 [GRCh38]
ChrX:70330857 [GRCh37]
ChrX:Xq13.1
benign
NM_000206.3(IL2RG):c.511G>C (p.Glu171Gln) single nucleotide variant X-linked severe combined immunodeficiency [RCV000983449] ChrX:71110239 [GRCh38]
ChrX:70330089 [GRCh37]
ChrX:Xq13.1
benign
NM_000206.3(IL2RG):c.282G>A (p.Ser94=) single nucleotide variant X-linked severe combined immunodeficiency [RCV000897046] ChrX:71110676 [GRCh38]
ChrX:70330526 [GRCh37]
ChrX:Xq13.1
benign
NM_000206.3(IL2RG):c.494T>G (p.Leu165Arg) single nucleotide variant X-linked severe combined immunodeficiency [RCV000941522] ChrX:71110256 [GRCh38]
ChrX:70330106 [GRCh37]
ChrX:Xq13.1
benign
NM_000206.3(IL2RG):c.281C>T (p.Ser94Leu) single nucleotide variant X-linked severe combined immunodeficiency [RCV000941304] ChrX:71110677 [GRCh38]
ChrX:70330527 [GRCh37]
ChrX:Xq13.1
benign
NM_000206.2(IL2RG):c.694G>A (p.Gly232Arg) single nucleotide variant not specified [RCV000781478] ChrX:71109291 [GRCh38]
ChrX:70329141 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.2(IL2RG):c.181C>T (p.Gln61Ter) single nucleotide variant X-linked severe combined immunodeficiency [RCV000781479] ChrX:71110985 [GRCh38]
ChrX:70330835 [GRCh37]
ChrX:Xq13.1
likely pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_000206.3(IL2RG):c.786C>T (p.Ala262=) single nucleotide variant X-linked severe combined immunodeficiency [RCV000976996] ChrX:71108667 [GRCh38]
ChrX:70328517 [GRCh37]
ChrX:Xq13.1
benign
NM_000206.2(IL2RG):c.956_957AG[1] (p.Leu321fs) microsatellite X-linked severe combined immunodeficiency [RCV000815773] ChrX:71107887..71107888 [GRCh38]
ChrX:70327737..70327738 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.87del (p.Asn31fs) deletion X-linked severe combined immunodeficiency [RCV000824674] ChrX:71111453 [GRCh38]
ChrX:70331303 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.2(IL2RG):c.433A>G (p.Met145Val) single nucleotide variant X-linked severe combined immunodeficiency [RCV000812128] ChrX:71110525 [GRCh38]
ChrX:70330375 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
NM_000206.2(IL2RG):c.461C>A (p.Pro154His) single nucleotide variant X-linked severe combined immunodeficiency [RCV000803412] ChrX:71110289 [GRCh38]
ChrX:70330139 [GRCh37]
ChrX:Xq13.1
uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32
pathogenic
NM_000206.2(IL2RG):c.431_433delinsGGG (p.Gln144_Met145delinsArgVal) indel X-linked severe combined immunodeficiency [RCV000804004] ChrX:71110525..71110527 [GRCh38]
ChrX:70330375..70330377 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.2(IL2RG):c.594+2_594+3del microsatellite X-linked severe combined immunodeficiency [RCV000797103] ChrX:71110153..71110154 [GRCh38]
ChrX:70330003..70330004 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.3(IL2RG):c.292A>G (p.Lys98Glu) single nucleotide variant X-linked severe combined immunodeficiency [RCV000990860] ChrX:71110666 [GRCh38]
ChrX:70330516 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000206.2(IL2RG):c.597A>C (p.Glu199Asp) single nucleotide variant X-linked severe combined immunodeficiency [RCV000818340] ChrX:71109388 [GRCh38]
ChrX:70329238 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.2(IL2RG):c.184T>A (p.Cys62Ser) single nucleotide variant not provided [RCV000788884] ChrX:71110982 [GRCh38]
ChrX:70330832 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000206.3(IL2RG):c.963G>A (p.Leu321=) single nucleotide variant X-linked severe combined immunodeficiency [RCV000941390] ChrX:71107883 [GRCh38]
ChrX:70327733 [GRCh37]
ChrX:Xq13.1
benign
NM_000206.3(IL2RG):c.454+5T>C single nucleotide variant X-linked severe combined immunodeficiency [RCV000980397] ChrX:71110499 [GRCh38]
ChrX:70330349 [GRCh37]
ChrX:Xq13.1
likely benign
NM_000206.2(IL2RG):c.1094T>C (p.Leu365Pro) single nucleotide variant X-linked severe combined immunodeficiency [RCV000817444] ChrX:71107752 [GRCh38]
ChrX:70327602 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.2(IL2RG):c.430C>T (p.Gln144Ter) single nucleotide variant X-linked severe combined immunodeficiency [RCV000804431] ChrX:71110528 [GRCh38]
ChrX:70330378 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.3(IL2RG):c.225_226insTGCT (p.Ser76delinsCysTer) insertion X-linked severe combined immunodeficiency [RCV001041771]|not provided [RCV001008594] ChrX:71110940..71110941 [GRCh38]
ChrX:70330790..70330791 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.3(IL2RG):c.577T>C (p.Trp193Arg) single nucleotide variant X-linked severe combined immunodeficiency [RCV001243009] ChrX:71110173 [GRCh38]
ChrX:70330023 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.3(IL2RG):c.685C>A (p.Pro229Thr) single nucleotide variant X-linked severe combined immunodeficiency [RCV001237603] ChrX:71109300 [GRCh38]
ChrX:70329150 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.3(IL2RG):c.550G>T (p.Glu184Ter) single nucleotide variant X-linked severe combined immunodeficiency [RCV001223070] ChrX:71110200 [GRCh38]
ChrX:70330050 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.3(IL2RG):c.761A>T (p.Asn254Ile) single nucleotide variant X-linked severe combined immunodeficiency [RCV001217514] ChrX:71108692 [GRCh38]
ChrX:70328542 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.3(IL2RG):c.758-4dup duplication X-linked severe combined immunodeficiency [RCV001241532] ChrX:71108698..71108699 [GRCh38]
ChrX:70328548..70328549 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.3(IL2RG):c.269G>T (p.Trp90Leu) single nucleotide variant X-linked severe combined immunodeficiency [RCV001238084] ChrX:71110897 [GRCh38]
ChrX:70330747 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.3(IL2RG):c.485T>G (p.Leu162Arg) single nucleotide variant X-linked severe combined immunodeficiency [RCV001236375] ChrX:71110265 [GRCh38]
ChrX:70330115 [GRCh37]
ChrX:Xq13.1
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_000206.3(IL2RG):c.556T>G (p.Leu186Val) single nucleotide variant X-linked severe combined immunodeficiency [RCV001212992] ChrX:71110194 [GRCh38]
ChrX:70330044 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.3(IL2RG):c.201C>T (p.Val67=) single nucleotide variant X-linked severe combined immunodeficiency [RCV000979116] ChrX:71110965 [GRCh38]
ChrX:70330815 [GRCh37]
ChrX:Xq13.1
benign
NM_000206.3(IL2RG):c.865C>A (p.Arg289=) single nucleotide variant not provided [RCV000940753] ChrX:71108336 [GRCh38]
ChrX:70328186 [GRCh37]
ChrX:Xq13.1
likely benign
NM_000206.3(IL2RG):c.332T>C (p.Ile111Thr) single nucleotide variant X-linked severe combined immunodeficiency [RCV000978621] ChrX:71110626 [GRCh38]
ChrX:70330476 [GRCh37]
ChrX:Xq13.1
benign
NM_000206.3(IL2RG):c.86C>T (p.Thr29Met) single nucleotide variant X-linked severe combined immunodeficiency [RCV000924456] ChrX:71111454 [GRCh38]
ChrX:70331304 [GRCh37]
ChrX:Xq13.1
benign
NM_000206.3(IL2RG):c.455-2A>C single nucleotide variant X-linked severe combined immunodeficiency [RCV001218893] ChrX:71110297 [GRCh38]
ChrX:70330147 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.3(IL2RG):c.226A>G (p.Ser76Gly) single nucleotide variant X-linked severe combined immunodeficiency [RCV001245376] ChrX:71110940 [GRCh38]
ChrX:70330790 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.3(IL2RG):c.311A>T (p.His104Leu) single nucleotide variant X-linked severe combined immunodeficiency [RCV001240284] ChrX:71110647 [GRCh38]
ChrX:70330497 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.3(IL2RG):c.1076C>T (p.Ala359Val) single nucleotide variant X-linked severe combined immunodeficiency [RCV001243856] ChrX:71107770 [GRCh38]
ChrX:70327620 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.3(IL2RG):c.459C>T (p.Ile153=) single nucleotide variant X-linked severe combined immunodeficiency [RCV000934542] ChrX:71110291 [GRCh38]
ChrX:70330141 [GRCh37]
ChrX:Xq13.1
likely benign
NM_000206.3(IL2RG):c.87G>A (p.Thr29=) single nucleotide variant X-linked severe combined immunodeficiency [RCV000912256] ChrX:71111453 [GRCh38]
ChrX:70331303 [GRCh37]
ChrX:Xq13.1
benign
NM_000206.3(IL2RG):c.455-8A>G single nucleotide variant X-linked severe combined immunodeficiency [RCV000890375] ChrX:71110303 [GRCh38]
ChrX:70330153 [GRCh37]
ChrX:Xq13.1
benign
NM_000206.3(IL2RG):c.37T>C (p.Phe13Leu) single nucleotide variant X-linked severe combined immunodeficiency [RCV001050625] ChrX:71111503 [GRCh38]
ChrX:70331353 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.3(IL2RG):c.62T>C (p.Val21Ala) single nucleotide variant X-linked severe combined immunodeficiency [RCV001057331] ChrX:71111478 [GRCh38]
ChrX:70331328 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.3(IL2RG):c.924G>A (p.Ser308=) single nucleotide variant X-linked severe combined immunodeficiency [RCV001236093]|not provided [RCV001310729] ChrX:71108277 [GRCh38]
ChrX:70328127 [GRCh37]
ChrX:Xq13.1
pathogenic|uncertain significance
NM_000206.3(IL2RG):c.553C>T (p.His185Tyr) single nucleotide variant X-linked severe combined immunodeficiency [RCV001207069] ChrX:71110197 [GRCh38]
ChrX:70330047 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.3(IL2RG):c.147_169dup (p.Leu57fs) duplication X-linked severe combined immunodeficiency [RCV001213477] ChrX:71110996..71110997 [GRCh38]
ChrX:70330846..70330847 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.3(IL2RG):c.458T>C (p.Ile153Thr) single nucleotide variant not provided [RCV001090305] ChrX:71110292 [GRCh38]
ChrX:70330142 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000206.3(IL2RG):c.294del (p.Val99fs) deletion X-linked severe combined immunodeficiency [RCV001063995] ChrX:71110664 [GRCh38]
ChrX:70330514 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.3(IL2RG):c.603_604del (p.Val202fs) deletion X-linked severe combined immunodeficiency [RCV001231054] ChrX:71109381..71109382 [GRCh38]
ChrX:70329231..70329232 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.3(IL2RG):c.1010C>G (p.Pro337Arg) single nucleotide variant X-linked severe combined immunodeficiency [RCV001165715] ChrX:71107836 [GRCh38]
ChrX:70327686 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.3(IL2RG):c.607G>A (p.Asp203Asn) single nucleotide variant X-linked severe combined immunodeficiency [RCV001203421] ChrX:71109378 [GRCh38]
ChrX:70329228 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.3(IL2RG):c.1105A>G (p.Thr369Ala) single nucleotide variant X-linked severe combined immunodeficiency [RCV001038746] ChrX:71107741 [GRCh38]
ChrX:70327591 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.3(IL2RG):c.207C>A (p.Tyr69Ter) single nucleotide variant X-linked severe combined immunodeficiency [RCV001211090] ChrX:71110959 [GRCh38]
ChrX:70330809 [GRCh37]
ChrX:Xq13.1
pathogenic
NM_000206.3(IL2RG):c.667G>T (p.Val223Phe) single nucleotide variant Inborn genetic diseases [RCV001267195] ChrX:71109318 [GRCh38]
ChrX:70329168 [GRCh37]
ChrX:Xq13.1
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000206.3(IL2RG):c.359_360insT (p.Lys120fs) insertion X-linked severe combined immunodeficiency [RCV001260353] ChrX:71110598..71110599 [GRCh38]
ChrX:70330448..70330449 [GRCh37]
ChrX:Xq13.1
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_000206.3(IL2RG):c.924+3G>A single nucleotide variant not provided [RCV001310728] ChrX:71108274 [GRCh38]
ChrX:70328124 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.3(IL2RG):c.269+1G>T single nucleotide variant Combined immunodeficiency, X-linked [RCV001329693] ChrX:71110896 [GRCh38]
ChrX:70330746 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000206.3(IL2RG):c.374A>G (p.Tyr125Cys) single nucleotide variant Combined immunodeficiency, X-linked [RCV001280968] ChrX:71110584 [GRCh38]
ChrX:70330434 [GRCh37]
ChrX:Xq13.1
likely pathogenic
NM_000206.3(IL2RG):c.967C>G (p.Pro323Ala) single nucleotide variant X-linked severe combined immunodeficiency [RCV001347372] ChrX:71107879 [GRCh38]
ChrX:70327729 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.3(IL2RG):c.654C>T (p.Arg218=) single nucleotide variant X-linked severe combined immunodeficiency [RCV001279977] ChrX:71109331 [GRCh38]
ChrX:70329181 [GRCh37]
ChrX:Xq13.1
uncertain significance
NM_000206.3(IL2RG):c.270G>T (p.Trp90Cys) single nucleotide variant X-linked severe combined immunodeficiency [RCV001309310] ChrX:71110688 [GRCh38]
ChrX:70330538 [GRCh37]
ChrX:Xq13.1
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6010 AgrOrtholog
COSMIC IL2RG COSMIC
Ensembl Genes ENSG00000147168 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000363303 UniProtKB/TrEMBL
  ENSP00000363318 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000388967 UniProtKB/Swiss-Prot
  ENSP00000421262 UniProtKB/TrEMBL
  ENSP00000423601 UniProtKB/TrEMBL
  ENSP00000425233 UniProtKB/TrEMBL
Ensembl Transcript ENST00000374188 UniProtKB/TrEMBL
  ENST00000374202 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000456850 UniProtKB/Swiss-Prot
  ENST00000464642 UniProtKB/TrEMBL
  ENST00000473378 UniProtKB/TrEMBL
  ENST00000482750 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147168 GTEx
HGNC ID HGNC:6010 ENTREZGENE
Human Proteome Map IL2RG Human Proteome Map
InterPro FN3_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FN3_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hempt_rcpt_S_F1_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TypeI_recpt_CBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3561 UniProtKB/Swiss-Prot
NCBI Gene 3561 ENTREZGENE
OMIM 300400 OMIM
  308380 OMIM
  312863 OMIM
Pfam fn3 UniProtKB/TrEMBL
  IL6Ra-bind UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA196 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEMATOPO_REC_S_F1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49265 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3G1CD75_HUMAN UniProtKB/TrEMBL
  D6R964_HUMAN UniProtKB/TrEMBL
  D6RDW9_HUMAN UniProtKB/TrEMBL
  H0Y8J6_HUMAN UniProtKB/TrEMBL
  IL2RG_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5FC09_HUMAN UniProtKB/TrEMBL
  Q5FC10_HUMAN UniProtKB/TrEMBL
  Q5FC11_HUMAN UniProtKB/TrEMBL
  Q5FC13_HUMAN UniProtKB/TrEMBL
UniProt Secondary Q5FC12 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 IL2RG  interleukin 2 receptor subunit gamma  CIDX  combined immunodeficiency, X-linked  Data Merged 737654 PROVISIONAL
2015-12-15 IL2RG  interleukin 2 receptor subunit gamma    interleukin 2 receptor, gamma  Symbol and/or name change 5135510 APPROVED
2011-08-16 IL2RG  interleukin 2 receptor, gamma  IL2RG  interleukin 2 receptor, gamma  Symbol and/or name change 5135510 APPROVED
2011-07-27 IL2RG  interleukin 2 receptor, gamma  IL2RG  interleukin 2 receptor, gamma (severe combined immunodeficiency)  Symbol and/or name change 5135510 APPROVED