IL2RG (interleukin 2 receptor subunit gamma)

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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:6010

Description:

Enables interleukin-15 receptor activity. Involved in interleukin-15-mediated signaling pathway and positive regulation of phagocytosis. Located in 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

Previously 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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	71,107,404 - 71,111,577 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	X	71,107,404 - 71,112,108 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	70,327,254 - 70,331,427 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	70,243,984 - 70,248,128 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	70,110,279 - 70,114,424	NCBI
Celera	X	70,681,159 - 70,685,386 (-)	NCBI		Celera
Cytogenetic Map	X	q13.1	NCBI
HuRef	X	64,146,973 - 64,150,762 (-)	NCBI		HuRef
CHM1_1	X	70,219,589 - 70,223,820 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	X	69,541,496 - 69,545,673 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autistic disorder (IAGP)

combined T cell and B cell immunodeficiency (IAGP,ISO)

COVID-19 (IEP)

Experimental Liver Cirrhosis (EXP)

FG Syndrome 1 (IAGP)

genetic disease (IAGP)

Immune Deficiency Disease (ISO)

severe combined immunodeficiency (IAGP)

Sezary's disease (EXP)

syndromic X-linked intellectual disability Lubs type (IAGP)

X-linked severe combined immunodeficiency (IAGP,ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

1-naphthyl isothiocyanate (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

4,4'-diaminodiphenylmethane (ISO)

4-hydroxycyclophosphamide (ISO)

4-hydroxyphenyl retinamide (ISO)

acetamide (ISO)

acetylsalicylic acid (EXP)

afimoxifene (ISO)

aflatoxin B1 (EXP,ISO)

all-trans-retinoic acid (EXP)

ammonium chloride (ISO)

amphetamine (ISO)

antirheumatic drug (EXP)

aripiprazole (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

C60 fullerene (ISO)

calcitriol (EXP)

carbon nanotube (ISO)

ceric oxide (ISO)

chloroprene (ISO)

clothianidin (EXP)

Cuprizon (ISO)

dextran sulfate (ISO)

dichloromethane (ISO)

diclofenac (ISO)

ethylbenzene (ISO)

fluvastatin (EXP)

gentamycin (ISO)

lipopolysaccharide (ISO)

methotrexate (ISO)

mycophenolic acid (ISO)

N-nitrosodimethylamine (ISO)

neoechinulin A (ISO)

nickel atom (EXP)

nickel subsulfide (ISO)

oxaliplatin (ISO)

ozone (EXP,ISO)

paracetamol (EXP)

phosgene (ISO)

pirinixic acid (ISO)

prostaglandin E2 (EXP)

resveratrol (EXP)

S-adenosyl-L-methioninate (ISO)

S-adenosyl-L-methionine (ISO)

silicon dioxide (EXP,ISO)

sirolimus (ISO)

sodium arsenite (ISO)

sterigmatocystin (ISO)

tamibarotene (ISO)

tamoxifen (ISO)

testosterone (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

toluene (ISO)

topotecan (ISO)

trichloroethene (ISO)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

B cell differentiation (IEA,ISO)

CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (IEA,ISO)

cytokine-mediated signaling pathway (IBA,IEA)

gene expression (IEA,ISO)

immune response (TAS)

interleukin-15-mediated signaling pathway (IMP)

interleukin-2-mediated signaling pathway (IDA)

interleukin-4-mediated signaling pathway (IEA)

interleukin-7-mediated signaling pathway (IEA)

interleukin-9-mediated signaling pathway (IDA)

lymphocyte differentiation (IEA,ISO)

mature B cell differentiation (IEA,ISO)

positive regulation of B cell differentiation (IEA,ISO)

positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (IEA,ISO)

positive regulation of gene expression (IEA,ISO)

positive regulation of phagocytosis (IMP)

positive regulation of T cell differentiation in thymus (IEA,ISO)

regulation of gene expression (IEA,ISO)

signal transduction (NAS)

T cell differentiation in thymus (IEA,ISO)

Cellular Component

cell surface (IDA,IEA)

cytosol (TAS)

endoplasmic reticulum (IDA)

endosome (TAS)

external side of plasma membrane (IBA,IEA,ISS)

membrane (HDA,IEA)

nucleoplasm (IDA)

plasma membrane (IC,IDA,IEA,TAS)

receptor complex (IBA)

Molecular Function

coreceptor activity (IDA)

cytokine binding (IBA)

cytokine receptor activity (IBA,IEA)

interleukin-15 receptor activity (IDA)

interleukin-2 binding (IEA,ISS)

interleukin-2 receptor activity (TAS)

interleukin-4 receptor activity (TAS)

interleukin-7 receptor activity (TAS)

protein binding (IPI)

Molecular Pathway Annotations Click to see Annotation Detail View

endocytosis pathway (IEA)

interleukin-12 signaling pathway (EXP)

interleukin-2 signaling pathway (EXP)

interleukin-4 signaling pathway (EXP)

Jak-Stat signaling pathway (IEA)

measles pathway (IEA)

primary immunodeficiency pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal B cell count (IAGP)

Abnormal immunoglobulin level (IAGP)

Abnormal lymphocyte morphology (IAGP)

Abnormal metaphysis morphology (IAGP)

Abnormal natural killer cell count (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)

Autism (IAGP)

Autoimmunity (IAGP)

Chronic diarrhea (IAGP)

Chronic mucocutaneous candidiasis (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)

Leukocytosis (IAGP)

Lymph node hypoplasia (IAGP)

Lymphadenopathy (IAGP)

Lymphoma (IAGP)

Lymphopenia (IAGP)

Lymphoproliferative disorder (IAGP)

Neonatal onset (IAGP)

Nephrotic syndrome (IAGP)

Otitis media (IAGP)

Pneumonia (IAGP)

Pruritus (IAGP)

Recurrent bacterial infections (IAGP)

Recurrent bacterial meningitis (IAGP)

Recurrent bacterial skin infections (IAGP)

Recurrent bronchitis (IAGP)

Recurrent cutaneous fungal infections (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)

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

References - curated

#	Reference Title	Reference Citation
1.	Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis.	Clark PA, etal., Hum Genet. 1995 Oct;96(4):427-32.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	Correlation Between Relative Nasopharyngeal Virus RNA Load and Lymphocyte Count Disease Severity in Patients with COVID-19.	Liu Y, etal., Viral Immunol. 2020 Apr 10. doi: 10.1089/vim.2020.0062.
4.	Generation of knockout rats with X-linked severe combined immunodeficiency (X-SCID) using zinc-finger nucleases.	Mashimo T, etal., PLoS One. 2010 Jan 25;5(1):e8870.
5.	Generation of immunodeficient rats with Rag1 and Il2rg gene deletions and human tissue grafting models.	Ménoret S, etal., Transplantation. 2018 Apr 24. doi: 10.1097/TP.0000000000002251.
6.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
7.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
8.	PID Annotation Import Pipeline	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
9.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
11.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:1631559	PMID:1976256	PMID:2315327	PMID:2843775	PMID:7529123	PMID:7568005	PMID:7641685	PMID:7668284	PMID:7706294	PMID:7860773	PMID:7883965	PMID:7937790
PMID:7973658	PMID:7973659	PMID:8026467	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:8524310	PMID:8568232	PMID:8624802	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: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:32072341	PMID:32248706	PMID:32296183	PMID:32921793	PMID:33959125	PMID:33961781	PMID:34382351
PMID:35052377	PMID:36645024

Genomics

Comparative Map Data

IL2RG
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	71,107,404 - 71,111,577 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p13 Ensembl	X	71,107,404 - 71,112,108 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	70,327,254 - 70,331,427 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	70,243,984 - 70,248,128 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	70,110,279 - 70,114,424	NCBI
Celera	X	70,681,159 - 70,685,386 (-)	NCBI		Celera
Cytogenetic Map	X	q13.1	NCBI
HuRef	X	64,146,973 - 64,150,762 (-)	NCBI		HuRef
CHM1_1	X	70,219,589 - 70,223,820 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	X	69,541,496 - 69,545,673 (-)	NCBI		T2T-CHM13v2.0

Il2rg
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	100,307,991 - 100,311,861 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	100,307,984 - 100,311,861 (-)	Ensembl		GRCm39 Ensembl
GRCm38	X	101,264,385 - 101,268,255 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	101,264,378 - 101,268,255 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	98,459,726 - 98,463,545 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	97,467,106 - 97,470,925 (-)	NCBI		MGSCv36	mm8
Celera	X	88,180,558 - 88,184,377 (-)	NCBI		Celera
Cytogenetic Map	X	D	NCBI
cM Map	X	43.9	NCBI

Il2rg
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	X	66,395,330 - 66,399,026 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	66,392,542 - 66,399,823 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	67,878,691 - 67,882,351 (-)	NCBI	Rnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0	X	71,379,079 - 71,382,739 (-)	NCBI	Rnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0	X	68,939,986 - 68,943,646 (-)	NCBI	Rnor_WKY
Rnor_6.0	X	71,165,378 - 71,169,078 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	71,162,585 - 71,169,865 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	72,017,856 - 72,021,516 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	89,342,055 - 89,345,715 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	X	89,416,495 - 89,419,068 (-)	NCBI
Celera	X	66,751,239 - 66,754,899 (-)	NCBI		Celera
Cytogenetic Map	X	q22	NCBI

Il2rg
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955475	10,676,870 - 10,680,517 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955475	10,676,592 - 10,680,565 (-)	NCBI	ChiLan1.0	ChiLan1.0

IL2RG
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1	X	70,788,781 - 70,792,982 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	60,375,815 - 60,386,936 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	70,433,355 - 70,437,590 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	70,433,360 - 70,437,590 (-)	Ensembl	panpan1.1		panPan2

IL2RG
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	X	55,480,846 - 55,488,485 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	55,481,092 - 55,484,751 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	46,308,162 - 46,311,760 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	56,449,759 - 56,453,658 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	56,450,007 - 56,453,637 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	54,418,234 - 54,421,830 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	55,749,655 - 55,753,253 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	55,676,806 - 55,680,404 (-)	NCBI		UU_Cfam_GSD_1.0
Dog Cytomap	X	q	NCBI

Il2rg
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	X	46,725,215 - 46,728,870 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936762	487,380 - 491,044 (+)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936762	487,414 - 491,028 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

IL2RG
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	X	57,143,570 - 57,147,256 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	57,143,568 - 57,151,242 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	64,674,048 - 64,677,372 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3
Pig Cytomap	X	q13	NCBI

IL2RG
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	X	60,905,011 - 60,915,723 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	60,905,343 - 60,909,149 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666065	2,765,485 - 2,776,292 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Il2rg
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624903	1,402,481 - 1,406,600 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624903	1,402,586 - 1,406,554 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in IL2RG
316 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_000206.3(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_000206.3(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_000206.3(IL2RG):c.655T>C (p.Tyr219His)	single nucleotide variant	not specified [RCV001526496]	ChrX:71109330 [GRCh38] ChrX:70329180 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(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_000206.3(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_000206.3(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_000206.3(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_000206.3(IL2RG):c.855-8C>T	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001446141]	ChrX:71108354 [GRCh38] ChrX:70328204 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(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_000206.3(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_000206.3(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_000206.3(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_000206.3(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_000206.3(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_000206.3(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_000206.3(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_000206.3(IL2RG):c.664C>T (p.Arg222Cys)	single nucleotide variant	Combined immunodeficiency, X-linked [RCV000010710]\|Inborn genetic diseases [RCV000622428]\|X-linked severe combined immunodeficiency [RCV001383439]	ChrX:71109321 [GRCh38] ChrX:70329171 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(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_000206.3(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_000206.3(IL2RG):c.314A>G (p.Tyr105Cys)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV000030054]	ChrX:71110644 [GRCh38] ChrX:70330494 [GRCh37] ChrX:Xq13.1	pathogenic\|likely pathogenic
NM_000206.3(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_000206.3(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_000206.3(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_000206.3(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.741G>A (p.Gly247=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001494165]	ChrX:71109244 [GRCh38] ChrX:70329094 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.711G>C (p.Trp237Cys)	single nucleotide variant	not provided [RCV003221444]	ChrX:71109274 [GRCh38] ChrX:70329124 [GRCh37] ChrX:Xq13.1	likely 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	likely pathogenic\|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_000206.3(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_000206.3(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\|likely pathogenic
NM_000206.3(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_000206.3(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_000206.3(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_000206.3(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_000206.3(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_000206.3(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_000206.3(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_000206.3(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_000206.3(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_000206.3(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_000206.3(IL2RG):c.325G>A (p.Glu109Lys)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV000638846]\|not provided [RCV001702634]\|not specified [RCV000610972]	ChrX:71110633 [GRCh38] ChrX:70330483 [GRCh37] ChrX:Xq13.1	benign\|likely benign
NM_000206.3(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_000206.3(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_000206.3(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_000206.3(IL2RG):c.821T>C (p.Ile274Thr)	single nucleotide variant	Inborn genetic diseases [RCV002529884]\|X-linked severe combined immunodeficiency [RCV000638842]\|not provided [RCV000788285]	ChrX:71108632 [GRCh38] ChrX:70328482 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.281C>A (p.Ser94Ter)	single nucleotide variant	not provided [RCV000579336]	ChrX:71110677 [GRCh38] ChrX:70330527 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.427del (p.Thr143fs)	deletion	not provided [RCV000599016]	ChrX:71110531 [GRCh38] ChrX:70330381 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(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_000206.3(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_000206.3(IL2RG):c.347A>C (p.Gln116Pro)	single nucleotide variant	not provided [RCV000523698]	ChrX:71110611 [GRCh38] ChrX:70330461 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(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_000206.3(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_000206.3(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_000206.3(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_000206.3(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_000206.3(IL2RG):c.260T>C (p.Leu87Pro)	single nucleotide variant	not provided [RCV000426062]	ChrX:71110906 [GRCh38] ChrX:70330756 [GRCh37] ChrX:Xq13.1	likely pathogenic\|uncertain significance
NM_000206.3(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_000206.3(IL2RG):c.328del (p.Glu110fs)	deletion	not provided [RCV000482132]	ChrX:71110630 [GRCh38] ChrX:70330480 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.980A>G (p.Glu327Gly)	single nucleotide variant	not provided [RCV000483465]	ChrX:71107866 [GRCh38] ChrX:70327716 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(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_000206.3(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\|likely pathogenic\|uncertain significance
NM_000206.3(IL2RG):c.460C>T (p.Pro154Ser)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002525762]\|not provided [RCV000480139]	ChrX:71110290 [GRCh38] ChrX:70330140 [GRCh37] ChrX:Xq13.1	likely pathogenic\|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
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_000206.3(IL2RG):c.207_211dup (p.Asn71delinsThrTer)	duplication	not provided [RCV000498292]	ChrX:71110954..71110955 [GRCh38] ChrX:70330804..70330805 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(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_000206.3(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\|uncertain significance
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_000206.3(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_000206.3(IL2RG):c.548del (p.Leu183fs)	deletion	X-linked severe combined immunodeficiency [RCV000638841]	ChrX:71110202 [GRCh38] ChrX:70330052 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.258_261dup (p.His88fs)	duplication	not provided [RCV000514620]	ChrX:71110904..71110905 [GRCh38] ChrX:70330754..70330755 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(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_000206.3(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_000206.3(IL2RG):c.855-1G>A	single nucleotide variant	X-linked severe combined immunodeficiency [RCV000531954]	ChrX:71108347 [GRCh38] ChrX:70328197 [GRCh37] ChrX:Xq13.1	pathogenic\|likely pathogenic
NM_000206.3(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_000206.3(IL2RG):c.406C>T (p.Arg136Trp)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV000638844]	ChrX:71110552 [GRCh38] ChrX:70330402 [GRCh37] ChrX:Xq13.1	likely benign\|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_000206.3(IL2RG):c.675C>G (p.Ser225Arg)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV000686497]	ChrX:71109310 [GRCh38] ChrX:70329160 [GRCh37] ChrX:Xq13.1	likely pathogenic\|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_000206.3(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_000206.3(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
NM_000206.3(IL2RG):c.816_819del (p.Ile273fs)	microsatellite	not provided [RCV001529931]	ChrX:71108634..71108637 [GRCh38] ChrX:70328484..70328487 [GRCh37] ChrX:Xq13.1	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 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	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1	copy number loss	not provided [RCV000753556]	ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28	pathogenic
NM_000206.3(IL2RG):c.594+211_594+212dup	duplication	not provided [RCV001530814]	ChrX:71109929..71109930 [GRCh38] ChrX:70329779..70329780 [GRCh37] ChrX:Xq13.1	benign
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 circulating creatine kinase concentration [RCV000856573]	ChrX:32196272..75245806 [GRCh37] ChrX:Xp21.1-q13.3	likely pathogenic
NM_000206.3(IL2RG):c.695G>T (p.Gly232Val)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001594437]	ChrX:71109290 [GRCh38] ChrX:70329140 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.504C>T (p.Ser168=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001493165]	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	X-linked severe combined immunodeficiency [RCV001514781]	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]\|not provided [RCV001702068]	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_000206.3(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_000206.3(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_000206.3(IL2RG):c.694G>A (p.Gly232Arg)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001856197]\|not specified [RCV000781478]	ChrX:71109291 [GRCh38] ChrX:70329141 [GRCh37] ChrX:Xq13.1	likely pathogenic\|uncertain significance
NM_000206.3(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_000206.3(IL2RG):c.958_959del (p.Leu321fs)	microsatellite	X-linked severe combined immunodeficiency [RCV000815773]	ChrX:71107887..71107888 [GRCh38] ChrX:70327737..70327738 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.87del (p.Asn31fs)	deletion	X-linked severe combined immunodeficiency [RCV000824674]	ChrX:71111453 [GRCh38] ChrX:70331303 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(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_000206.3(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_000206.3(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_000206.3(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\|conflicting interpretations of pathogenicity
NM_000206.3(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_000206.3(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_000206.3(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_000206.3(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.594+211dup	duplication	not provided [RCV001679310]	ChrX:71109929..71109930 [GRCh38] ChrX:70329779..70329780 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.201C>T (p.Val67=)	single nucleotide variant	Combined immunodeficiency, X-linked [RCV001563853]\|X-linked severe combined immunodeficiency [RCV000979116]	ChrX:71110965 [GRCh38] ChrX:70330815 [GRCh37] ChrX:Xq13.1	benign\|likely benign
NM_000206.3(IL2RG):c.865C>A (p.Arg289=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001408712]	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	likely benign\|uncertain significance
NM_000206.3(IL2RG):c.1076C>T (p.Ala359Val)	single nucleotide variant	Inborn genetic diseases [RCV002564074]\|X-linked severe combined immunodeficiency [RCV001243856]	ChrX:71107770 [GRCh38] ChrX:70327620 [GRCh37] ChrX:Xq13.1	likely benign\|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.318A>G (p.Leu106=)	single nucleotide variant	Combined immunodeficiency, X-linked [RCV001563866]\|X-linked severe combined immunodeficiency [RCV001563867]	ChrX:71110640 [GRCh38] ChrX:70330490 [GRCh37] ChrX:Xq13.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_000206.3(IL2RG):c.1061A>G (p.His354Arg)	single nucleotide variant	Combined immunodeficiency, X-linked [RCV001563868]\|X-linked severe combined immunodeficiency [RCV001563869]	ChrX:71107785 [GRCh38] ChrX:70327635 [GRCh37] ChrX:Xq13.1	conflicting interpretations of pathogenicity\|uncertain significance
NM_000206.3(IL2RG):c.594+226del	deletion	not provided [RCV001713852]	ChrX:71109930 [GRCh38] ChrX:70329780 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.37T>C (p.Phe13Leu)	single nucleotide variant	Inborn genetic diseases [RCV002553227]\|X-linked severe combined immunodeficiency [RCV001050625]	ChrX:71111503 [GRCh38] ChrX:70331353 [GRCh37] ChrX:Xq13.1	likely benign\|uncertain significance
NM_000206.3(IL2RG):c.115+163TCTT[4]	microsatellite	not provided [RCV001667480]	ChrX:71111250..71111251 [GRCh38] ChrX:70331100..70331101 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.832T>C (p.Cys278Arg)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001530965]	ChrX:71108621 [GRCh38] ChrX:70328471 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.922del (p.Ser308fs)	deletion	X-linked severe combined immunodeficiency [RCV001644553]	ChrX:71108279 [GRCh38] ChrX:70328129 [GRCh37] ChrX:Xq13.1	pathogenic
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	likely benign\|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 Xq11.1-28(chrX:62685885-155233731)	copy number loss	Turner syndrome [RCV002280672]	ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28	pathogenic
NM_000206.3(IL2RG):c.758-1G>C	single nucleotide variant	not provided [RCV001531160]	ChrX:71108696 [GRCh38] ChrX:70328546 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.419G>C (p.Arg140Thr)	single nucleotide variant	not provided [RCV001531161]	ChrX:71110539 [GRCh38] ChrX:70330389 [GRCh37] ChrX:Xq13.1	uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	copy number gain	See cases [RCV001263024]	ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number gain	46,XX sex reversal 1 [RCV002280665]\|Hypotonia [RCV002280667]\|Trisomy X syndrome [RCV002280666]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_000206.3(IL2RG):c.359_360insT (p.Lys120fs)	insertion	X-linked severe combined immunodeficiency [RCV001260353]\|not provided [RCV002274165]	ChrX:71110598..71110599 [GRCh38] ChrX:70330448..70330449 [GRCh37] ChrX:Xq13.1	pathogenic\|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.925-4T>C	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001433287]	ChrX:71107925 [GRCh38] ChrX:70327775 [GRCh37] ChrX:Xq13.1	likely benign
NC_000023.10:g.(?_70328107)_(70328216_?)del	deletion	X-linked severe combined immunodeficiency [RCV001382965]	ChrX:70328107..70328216 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.758-8T>C	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001392429]	ChrX:71108703 [GRCh38] ChrX:70328553 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.269+1G>T	single nucleotide variant	Combined immunodeficiency, X-linked [RCV001329693]\|X-linked severe combined immunodeficiency [RCV001863206]	ChrX:71110896 [GRCh38] ChrX:70330746 [GRCh37] ChrX:Xq13.1	pathogenic\|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
NM_000206.3(IL2RG):c.1008C>T (p.Pro336=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001394747]	ChrX:71107838 [GRCh38] ChrX:70327688 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.530G>T (p.Arg177Ile)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001367343]	ChrX:71110220 [GRCh38] ChrX:70330070 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.116-5T>G	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001395870]	ChrX:71111055 [GRCh38] ChrX:70330905 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.381A>G (p.Thr127=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001395456]	ChrX:71110577 [GRCh38] ChrX:70330427 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.51C>T (p.Pro17=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001395317]	ChrX:71111489 [GRCh38] ChrX:70331339 [GRCh37] ChrX:Xq13.1	likely benign
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	copy number loss	not provided [RCV001537933]	ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_000206.3(IL2RG):c.116-2A>G	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001377945]	ChrX:71111052 [GRCh38] ChrX:70330902 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.594+5G>T	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001377899]	ChrX:71110151 [GRCh38] ChrX:70330001 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.1077C>T (p.Ala359=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001424969]	ChrX:71107769 [GRCh38] ChrX:70327619 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.316C>T (p.Leu106=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001399812]	ChrX:71110642 [GRCh38] ChrX:70330492 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.743G>A (p.Ser248Asn)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001484773]	ChrX:71109242 [GRCh38] ChrX:70329092 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.600A>C (p.Gln200His)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001520736]	ChrX:71109385 [GRCh38] ChrX:70329235 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.777A>G (p.Ala259=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001451819]	ChrX:71108676 [GRCh38] ChrX:70328526 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.340G>T (p.Gly114Cys)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001378640]	ChrX:71110618 [GRCh38] ChrX:70330468 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.576C>T (p.Asp192=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001452620]	ChrX:71110174 [GRCh38] ChrX:70330024 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.975C>T (p.Tyr325=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001517421]	ChrX:71107871 [GRCh38] ChrX:70327721 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.302_384dup (p.Val129fs)	duplication	X-linked severe combined immunodeficiency [RCV001381311]	ChrX:71110573..71110574 [GRCh38] ChrX:70330423..70330424 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.407G>A (p.Arg136Gln)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001521032]	ChrX:71110551 [GRCh38] ChrX:70330401 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.15A>T (p.Ser5=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001466918]	ChrX:71111525 [GRCh38] ChrX:70331375 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.438A>G (p.Leu146=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001426607]	ChrX:71110520 [GRCh38] ChrX:70330370 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.116-1G>A	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001379508]	ChrX:71111051 [GRCh38] ChrX:70330901 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.1077C>A (p.Ala359=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001493179]	ChrX:71107769 [GRCh38] ChrX:70327619 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.854+2T>C	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001379603]	ChrX:71108597 [GRCh38] ChrX:70328447 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.713G>A (p.Ser238Asn)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001379604]	ChrX:71109272 [GRCh38] ChrX:70329122 [GRCh37] ChrX:Xq13.1	pathogenic\|likely pathogenic
NM_000206.3(IL2RG):c.675C>A (p.Ser225Arg)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001379605]	ChrX:71109310 [GRCh38] ChrX:70329160 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.822C>T (p.Ile274=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001501086]	ChrX:71108631 [GRCh38] ChrX:70328481 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.184T>C (p.Cys62Arg)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001377072]\|not provided [RCV001751746]	ChrX:71110982 [GRCh38] ChrX:70330832 [GRCh37] ChrX:Xq13.1	pathogenic\|likely pathogenic\|uncertain significance
NM_000206.3(IL2RG):c.1059G>A (p.Gln353=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001505129]	ChrX:71107787 [GRCh38] ChrX:70327637 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.434T>A (p.Met145Lys)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001401617]	ChrX:71110524 [GRCh38] ChrX:70330374 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.757+9G>A	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001474865]	ChrX:71109219 [GRCh38] ChrX:70329069 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.855-10C>A	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001493717]	ChrX:71108356 [GRCh38] ChrX:70328206 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.148del (p.Leu50fs)	deletion	X-linked severe combined immunodeficiency [RCV001387994]	ChrX:71111018 [GRCh38] ChrX:70330868 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.1080C>A (p.Pro360=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001434480]	ChrX:71107766 [GRCh38] ChrX:70327616 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.618T>A (p.His206Gln)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001401162]	ChrX:71109367 [GRCh38] ChrX:70329217 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.327A>G (p.Glu109=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001407894]	ChrX:71110631 [GRCh38] ChrX:70330481 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.1077C>G (p.Ala359=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001406583]	ChrX:71107769 [GRCh38] ChrX:70327619 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.798T>C (p.Ser266=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001519100]	ChrX:71108655 [GRCh38] ChrX:70328505 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.594+225_594+226del	deletion	not provided [RCV001610270]	ChrX:71109930..71109931 [GRCh38] ChrX:70329780..70329781 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.130A>G (p.Thr44Ala)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001468819]\|not provided [RCV003130523]	ChrX:71111036 [GRCh38] ChrX:70330886 [GRCh37] ChrX:Xq13.1	likely benign\|uncertain significance
NM_000206.3(IL2RG):c.75G>A (p.Thr25=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001510180]	ChrX:71111465 [GRCh38] ChrX:70331315 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.1002G>A (p.Glu334=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001510577]	ChrX:71107844 [GRCh38] ChrX:70327694 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.754A>G (p.Lys252Glu)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001510202]	ChrX:71109231 [GRCh38] ChrX:70329081 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.961C>T (p.Leu321=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001465233]	ChrX:71107885 [GRCh38] ChrX:70327735 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.924+8C>G	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001455327]	ChrX:71108269 [GRCh38] ChrX:70328119 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.594+214T>C	single nucleotide variant	not provided [RCV001713863]	ChrX:71109942 [GRCh38] ChrX:70329792 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.369C>T (p.His123=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001476735]	ChrX:71110589 [GRCh38] ChrX:70330439 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.1080C>T (p.Pro360=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001501499]	ChrX:71107766 [GRCh38] ChrX:70327616 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.857C>T (p.Thr286Met)	single nucleotide variant	Combined immunodeficiency, X-linked [RCV002506639]\|X-linked severe combined immunodeficiency [RCV001523301]	ChrX:71108344 [GRCh38] ChrX:70328194 [GRCh37] ChrX:Xq13.1	benign\|likely benign
NM_000206.3(IL2RG):c.758-10T>G	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001456700]	ChrX:71108705 [GRCh38] ChrX:70328555 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.660G>A (p.Thr220=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001431552]	ChrX:71109325 [GRCh38] ChrX:70329175 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.927C>T (p.Ala309=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001470881]	ChrX:71107919 [GRCh38] ChrX:70327769 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.1098G>A (p.Lys366=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001488544]	ChrX:71107748 [GRCh38] ChrX:70327598 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.977G>A (p.Ser326Asn)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001514667]	ChrX:71107869 [GRCh38] ChrX:70327719 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.758-2A>G	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001388678]	ChrX:71108697 [GRCh38] ChrX:70328547 [GRCh37] ChrX:Xq13.1	pathogenic\|likely pathogenic
NM_000206.3(IL2RG):c.912C>T (p.His304=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001510730]	ChrX:71108289 [GRCh38] ChrX:70328139 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.594+7G>A	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001505215]	ChrX:71110149 [GRCh38] ChrX:70329999 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.294A>G (p.Lys98=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001452193]	ChrX:71110664 [GRCh38] ChrX:70330514 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.567C>T (p.Tyr189=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001515421]	ChrX:71110183 [GRCh38] ChrX:70330033 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.348G>T (p.Gln116His)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001517355]	ChrX:71110610 [GRCh38] ChrX:70330460 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.659C>T (p.Thr220Met)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001517359]	ChrX:71109326 [GRCh38] ChrX:70329176 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.814T>C (p.Leu272=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001440923]	ChrX:71108639 [GRCh38] ChrX:70328489 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.708T>C (p.His236=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001515116]	ChrX:71109277 [GRCh38] ChrX:70329127 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.339T>C (p.Ser113=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001424072]	ChrX:71110619 [GRCh38] ChrX:70330469 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.982C>A (p.Arg328=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001459686]	ChrX:71107864 [GRCh38] ChrX:70327714 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.993C>T (p.Leu331=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001456627]	ChrX:71107853 [GRCh38] ChrX:70327703 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.270-15A>T	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001468309]	ChrX:71110703 [GRCh38] ChrX:70330553 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.905_906del (p.Glu302fs)	deletion	X-linked severe combined immunodeficiency [RCV002250055]	ChrX:71108295..71108296 [GRCh38] ChrX:70328145..70328146 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.115+1G>T	single nucleotide variant	not provided [RCV001783476]	ChrX:71111424 [GRCh38] ChrX:70331274 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.484C>G (p.Leu162Val)	single nucleotide variant	Combined immunodeficiency, X-linked [RCV001733815]\|X-linked severe combined immunodeficiency [RCV002032743]	ChrX:71110266 [GRCh38] ChrX:70330116 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.622T>C (p.Phe208Leu)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002032861]\|not provided [RCV001771037]	ChrX:71109363 [GRCh38] ChrX:70329213 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.594+198C>T	single nucleotide variant	not provided [RCV001779714]	ChrX:71109958 [GRCh38] ChrX:70329808 [GRCh37] ChrX:Xq13.1	likely benign
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_000206.3(IL2RG):c.252C>A (p.Asn84Lys)	single nucleotide variant	not provided [RCV001758148]	ChrX:71110914 [GRCh38] ChrX:70330764 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.365T>A (p.Ile122Asn)	single nucleotide variant	not provided [RCV001816542]	ChrX:71110593 [GRCh38] ChrX:70330443 [GRCh37] ChrX:Xq13.1	likely pathogenic\|uncertain significance
NM_000206.3(IL2RG):c.205_215del (p.Tyr69fs)	deletion	not provided [RCV001816543]	ChrX:71110951..71110961 [GRCh38] ChrX:70330801..70330811 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.1082del (p.Pro361fs)	deletion	X-linked severe combined immunodeficiency [RCV002543943]\|not provided [RCV001757873]	ChrX:71107764 [GRCh38] ChrX:70327614 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.238C>A (p.Pro80Thr)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001915015]	ChrX:71110928 [GRCh38] ChrX:70330778 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.32T>C (p.Leu11Pro)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002005549]	ChrX:71111508 [GRCh38] ChrX:70331358 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.359dup (p.Glu121fs)	duplication	X-linked severe combined immunodeficiency [RCV002044749]	ChrX:71110598..71110599 [GRCh38] ChrX:70330448..70330449 [GRCh37] ChrX:Xq13.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	not provided [RCV001829212]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671)	copy number gain	not specified [RCV002053136]	ChrX:61974855..79123671 [GRCh37] ChrX:Xq11.1-21.1	pathogenic
NM_000206.3(IL2RG):c.594+5G>A	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002006682]	ChrX:71110151 [GRCh38] ChrX:70330001 [GRCh37] ChrX:Xq13.1	likely pathogenic
GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671)	copy number gain	not specified [RCV002053135]	ChrX:61877278..79123671 [GRCh37] ChrX:Xq11.1-21.1	pathogenic
NM_000206.3(IL2RG):c.17T>C (p.Leu6Ser)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001911807]	ChrX:71111523 [GRCh38] ChrX:70331373 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.1081C>A (p.Pro361Thr)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001911251]	ChrX:71107765 [GRCh38] ChrX:70327615 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.307_308del	deletion	X-linked severe combined immunodeficiency [RCV001945387]	ChrX:71107428..71107429 [GRCh38] ChrX:70327278..70327279 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.545G>C (p.Cys182Ser)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001966612]	ChrX:71110205 [GRCh38] ChrX:70330055 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.1098_1099delinsTT (p.Lys366_Pro367delinsAsnSer)	indel	X-linked severe combined immunodeficiency [RCV001911151]	ChrX:71107747..71107748 [GRCh38] ChrX:70327597..70327598 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.27_51del (p.Ser10fs)	deletion	X-linked severe combined immunodeficiency [RCV002007327]	ChrX:71111489..71111513 [GRCh38] ChrX:70331339..70331363 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.344G>T (p.Cys115Phe)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001969652]	ChrX:71110614 [GRCh38] ChrX:70330464 [GRCh37] ChrX:Xq13.1	likely pathogenic
GRCh37/hg19 Xq13.1(chrX:69917640-70638292)x2	copy number gain	not provided [RCV001836485]	ChrX:69917640..70638292 [GRCh37] ChrX:Xq13.1	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV001834509]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_000206.3(IL2RG):c.395T>A (p.Leu132His)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002026875]	ChrX:71110563 [GRCh38] ChrX:70330413 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.401A>G (p.Asp134Gly)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001944491]	ChrX:71110557 [GRCh38] ChrX:70330407 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.280T>A (p.Ser94Thr)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001923706]	ChrX:71110678 [GRCh38] ChrX:70330528 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.855-2A>C	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001958614]	ChrX:71108348 [GRCh38] ChrX:70328198 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.738G>A (p.Trp246Ter)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001920479]	ChrX:71109247 [GRCh38] ChrX:70329097 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.216C>A (p.Cys72Ter)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001899190]	ChrX:71110950 [GRCh38] ChrX:70330800 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.328G>T (p.Glu110Ter)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001878969]	ChrX:71110630 [GRCh38] ChrX:70330480 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.115+2T>C	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001867748]	ChrX:71111423 [GRCh38] ChrX:70331273 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.612T>A (p.Tyr204Ter)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001959188]	ChrX:71109373 [GRCh38] ChrX:70329223 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.463T>A (p.Trp155Arg)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001867493]	ChrX:71110287 [GRCh38] ChrX:70330137 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.52del (p.Leu18fs)	deletion	X-linked severe combined immunodeficiency [RCV001956149]	ChrX:71111488 [GRCh38] ChrX:70331338 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.866G>A (p.Arg289Gln)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001932817]	ChrX:71108335 [GRCh38] ChrX:70328185 [GRCh37] ChrX:Xq13.1	uncertain significance
NC_000023.10:g.(?_70330774)_(70331695_?)del	deletion	X-linked severe combined immunodeficiency [RCV001960723]	ChrX:70330774..70331695 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.598C>T (p.Gln200Ter)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001866960]	ChrX:71109387 [GRCh38] ChrX:70329237 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.589T>C (p.Trp197Arg)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002016296]	ChrX:71110161 [GRCh38] ChrX:70330011 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.412C>T (p.Pro138Ser)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV001875385]	ChrX:71110546 [GRCh38] ChrX:70330396 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.546_549del (p.Cys182fs)	deletion	X-linked severe combined immunodeficiency [RCV001867248]	ChrX:71110201..71110204 [GRCh38] ChrX:70330051..70330054 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.739G>A (p.Gly247Arg)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002013691]	ChrX:71109246 [GRCh38] ChrX:70329096 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.855-16C>T	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002125809]	ChrX:71108362 [GRCh38] ChrX:70328212 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.269+14C>T	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002209528]	ChrX:71110883 [GRCh38] ChrX:70330733 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.758-16T>C	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002106496]	ChrX:71108711 [GRCh38] ChrX:70328561 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.925-8G>C	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002208130]	ChrX:71107929 [GRCh38] ChrX:70327779 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.74del (p.Thr25fs)	deletion	Combined immunodeficiency, X-linked [RCV002208750]	ChrX:71111466 [GRCh38] ChrX:70331316 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.924+10C>G	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002207401]	ChrX:71108267 [GRCh38] ChrX:70328117 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.366C>T (p.Ile122=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002187434]	ChrX:71110592 [GRCh38] ChrX:70330442 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.594+7G>T	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002134307]	ChrX:71110149 [GRCh38] ChrX:70329999 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.454+19G>A	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002104556]	ChrX:71110485 [GRCh38] ChrX:70330335 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.269+17G>A	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002074961]	ChrX:71110880 [GRCh38] ChrX:70330730 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.74C>T (p.Thr25Met)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002095920]	ChrX:71111466 [GRCh38] ChrX:70331316 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.455-17T>G	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002189933]	ChrX:71110312 [GRCh38] ChrX:70330162 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.270-8T>C	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002076329]	ChrX:71110696 [GRCh38] ChrX:70330546 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.888A>G (p.Leu296=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002152907]	ChrX:71108313 [GRCh38] ChrX:70328163 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.594+17G>A	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002194251]	ChrX:71110139 [GRCh38] ChrX:70329989 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.758-14del	deletion	X-linked severe combined immunodeficiency [RCV002132161]	ChrX:71108709 [GRCh38] ChrX:70328559 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.702T>C (p.Ala234=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002093024]	ChrX:71109283 [GRCh38] ChrX:70329133 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.799G>A (p.Val267Ile)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002215601]	ChrX:71108654 [GRCh38] ChrX:70328504 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.174A>G (p.Pro58=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002107246]	ChrX:71110992 [GRCh38] ChrX:70330842 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.758-4A>G	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002075562]	ChrX:71108699 [GRCh38] ChrX:70328549 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.69G>A (p.Leu23=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002213521]	ChrX:71111471 [GRCh38] ChrX:70331321 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.455-4C>T	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002151429]	ChrX:71110299 [GRCh38] ChrX:70330149 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.758-19G>T	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002110503]	ChrX:71108714 [GRCh38] ChrX:70328564 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.455-10A>G	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002217983]	ChrX:71110305 [GRCh38] ChrX:70330155 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.381A>C (p.Thr127=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002159686]	ChrX:71110577 [GRCh38] ChrX:70330427 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.594+9C>G	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002157995]	ChrX:71110147 [GRCh38] ChrX:70329997 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.60A>C (p.Gly20=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002138962]	ChrX:71111480 [GRCh38] ChrX:70331330 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.267T>C (p.Tyr89=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002176960]	ChrX:71110899 [GRCh38] ChrX:70330749 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.924+8C>T	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002103606]	ChrX:71108269 [GRCh38] ChrX:70328119 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.753A>T (p.Ser251=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002203525]	ChrX:71109232 [GRCh38] ChrX:70329082 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.249C>T (p.Thr83=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002098423]	ChrX:71110917 [GRCh38] ChrX:70330767 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.269+15G>A	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002200397]	ChrX:71110882 [GRCh38] ChrX:70330732 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.175G>T (p.Glu59Ter)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002222990]	ChrX:71110991 [GRCh38] ChrX:70330841 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.854+15A>G	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002203242]	ChrX:71108584 [GRCh38] ChrX:70328434 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.924+9G>T	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002203016]	ChrX:71108268 [GRCh38] ChrX:70328118 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.804C>T (p.Gly268=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002198000]	ChrX:71108649 [GRCh38] ChrX:70328499 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.678C>T (p.Arg226=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002154144]	ChrX:71109307 [GRCh38] ChrX:70329157 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.333C>G (p.Ile111Met)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002218710]	ChrX:71110625 [GRCh38] ChrX:70330475 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.855-9C>T	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002162473]	ChrX:71108355 [GRCh38] ChrX:70328205 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.261G>T (p.Leu87=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002136537]	ChrX:71110905 [GRCh38] ChrX:70330755 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.138C>T (p.Pro46=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002182277]	ChrX:71111028 [GRCh38] ChrX:70330878 [GRCh37] ChrX:Xq13.1	likely benign
NC_000023.10:g.(?_69748945)_(70644108_?)dup	duplication	FG syndrome 1 [RCV003116312]	ChrX:69748945..70644108 [GRCh37] ChrX:Xq13.1	uncertain significance
NC_000023.10:g.(?_70327586)_(70683896_?)dup	duplication	X-linked severe combined immunodeficiency [RCV003122181]	ChrX:70327586..70683896 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.75_77del (p.Thr26del)	deletion	Combined immunodeficiency, X-linked [RCV002273219]	ChrX:71111463..71111465 [GRCh38] ChrX:70331313..70331315 [GRCh37] ChrX:Xq13.1	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_000206.3(IL2RG):c.943_962del (p.Lys315fs)	deletion	not provided [RCV002293224]	ChrX:71107884..71107903 [GRCh38] ChrX:70327734..70327753 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.41T>C (p.Leu14Pro)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002284056]	ChrX:71111499 [GRCh38] ChrX:70331349 [GRCh37] ChrX:Xq13.1	likely pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	copy number loss	See cases [RCV002286357]	ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28	pathogenic
NM_000206.3(IL2RG):c.278A>G (p.Asn93Ser)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002298116]	ChrX:71110680 [GRCh38] ChrX:70330530 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.326_340del (p.Glu109_Ser113del)	deletion	See cases [RCV003156166]	ChrX:71110618..71110632 [GRCh38] ChrX:70330468..70330482 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.481del (p.Thr161fs)	deletion	X-linked severe combined immunodeficiency [RCV002309463]	ChrX:71110269 [GRCh38] ChrX:70330119 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.480_481del (p.Leu162fs)	deletion	X-linked severe combined immunodeficiency [RCV002308169]	ChrX:71110269..71110270 [GRCh38] ChrX:70330119..70330120 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.537_538del (p.Asn180fs)	deletion	X-linked severe combined immunodeficiency [RCV002310211]	ChrX:71110212..71110213 [GRCh38] ChrX:70330062..70330063 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.31C>T (p.Leu11Phe)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002299717]	ChrX:71111509 [GRCh38] ChrX:70331359 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.489_490del (p.His163fs)	microsatellite	X-linked severe combined immunodeficiency [RCV002306639]	ChrX:71110260..71110261 [GRCh38] ChrX:70330110..70330111 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.235_236delinsT (p.Glu79fs)	indel	X-linked severe combined immunodeficiency [RCV002309026]	ChrX:71110930..71110931 [GRCh38] ChrX:70330780..70330781 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.715G>T (p.Glu239Ter)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002308064]	ChrX:71109270 [GRCh38] ChrX:70329120 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.632C>G (p.Pro211Arg)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002299648]	ChrX:71109353 [GRCh38] ChrX:70329203 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.653G>T (p.Arg218Leu)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002300314]	ChrX:71109332 [GRCh38] ChrX:70329182 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.363G>A (p.Glu121=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002681453]	ChrX:71110595 [GRCh38] ChrX:70330445 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.811G>A (p.Gly271Arg)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002881357]	ChrX:71108642 [GRCh38] ChrX:70328492 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.879del (p.Lys294fs)	deletion	X-linked severe combined immunodeficiency [RCV002880974]	ChrX:71108322 [GRCh38] ChrX:70328172 [GRCh37] ChrX:Xq13.1	pathogenic
NC_000023.10:g.70331494G>T	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002681246]	ChrX:71111644 [GRCh38] ChrX:70331494 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.855-19C>T	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002971841]	ChrX:71108365 [GRCh38] ChrX:70328215 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.626C>T (p.Ser209Phe)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002775581]	ChrX:71109359 [GRCh38] ChrX:70329209 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.609T>C (p.Asp203=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002726713]	ChrX:71109376 [GRCh38] ChrX:70329226 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.855-8C>G	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002972290]	ChrX:71108354 [GRCh38] ChrX:70328204 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.924+8C>A	single nucleotide variant	X-linked severe combined immunodeficiency [RCV003076803]	ChrX:71108269 [GRCh38] ChrX:70328119 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.555C>T (p.His185=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002871291]	ChrX:71110195 [GRCh38] ChrX:70330045 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.758-13C>A	single nucleotide variant	X-linked severe combined immunodeficiency [RCV003003022]	ChrX:71108708 [GRCh38] ChrX:70328558 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.92A>T (p.Asn31Ile)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV003081644]	ChrX:71111448 [GRCh38] ChrX:70331298 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.829del (p.Leu277fs)	deletion	X-linked severe combined immunodeficiency [RCV003055625]	ChrX:71108624 [GRCh38] ChrX:70328474 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.376del (p.Gln126fs)	deletion	X-linked severe combined immunodeficiency [RCV002848360]	ChrX:71110582 [GRCh38] ChrX:70330432 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.1010C>A (p.Pro337Gln)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV003078341]	ChrX:71107836 [GRCh38] ChrX:70327686 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.30C>T (p.Ser10=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002867887]	ChrX:71111510 [GRCh38] ChrX:70331360 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.564G>A (p.Gln188=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV003054026]	ChrX:71110186 [GRCh38] ChrX:70330036 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.1046C>T (p.Ser349Phe)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV003077247]	ChrX:71107800 [GRCh38] ChrX:70327650 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.1048C>T (p.Pro350Ser)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002952463]	ChrX:71107798 [GRCh38] ChrX:70327648 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.990C>A (p.Cys330Ter)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002876156]	ChrX:71107856 [GRCh38] ChrX:70327706 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.924+12G>A	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002667154]	ChrX:71108265 [GRCh38] ChrX:70328115 [GRCh37] ChrX:Xq13.1	benign
NM_000206.3(IL2RG):c.371_372insAGT (p.Leu124_Tyr125insVal)	insertion	X-linked severe combined immunodeficiency [RCV003007999]	ChrX:71110586..71110587 [GRCh38] ChrX:70330436..70330437 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.270-7C>G	single nucleotide variant	X-linked severe combined immunodeficiency [RCV003023713]	ChrX:71110695 [GRCh38] ChrX:70330545 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.34_35del (p.Leu12fs)	deletion	X-linked severe combined immunodeficiency [RCV003022585]	ChrX:71111505..71111506 [GRCh38] ChrX:70331355..70331356 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.692G>A (p.Cys231Tyr)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV003041453]	ChrX:71109293 [GRCh38] ChrX:70329143 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.594+1G>A	single nucleotide variant	X-linked severe combined immunodeficiency [RCV003041454]	ChrX:71110155 [GRCh38] ChrX:70330005 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.437T>C (p.Leu146Pro)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV003041455]	ChrX:71110521 [GRCh38] ChrX:70330371 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.464G>C (p.Trp155Ser)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV003043316]	ChrX:71110286 [GRCh38] ChrX:70330136 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.115+13G>A	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002594625]	ChrX:71111412 [GRCh38] ChrX:70331262 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.79dup (p.Ile27fs)	duplication	X-linked severe combined immunodeficiency [RCV003057666]	ChrX:71111460..71111461 [GRCh38] ChrX:70331310..70331311 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.667G>A (p.Val223Ile)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002643528]	ChrX:71109318 [GRCh38] ChrX:70329168 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.206A>G (p.Tyr69Cys)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV003022542]	ChrX:71110960 [GRCh38] ChrX:70330810 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.60A>G (p.Gly20=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV003082263]	ChrX:71111480 [GRCh38] ChrX:70331330 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.595-17T>C	single nucleotide variant	X-linked severe combined immunodeficiency [RCV003058892]	ChrX:71109407 [GRCh38] ChrX:70329257 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.270-11T>C	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002623324]	ChrX:71110699 [GRCh38] ChrX:70330549 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.491A>T (p.Lys164Ile)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV003030559]	ChrX:71110259 [GRCh38] ChrX:70330109 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.258T>G (p.Thr86=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002578569]	ChrX:71110908 [GRCh38] ChrX:70330758 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.504C>G (p.Ser168=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV003009614]	ChrX:71110246 [GRCh38] ChrX:70330096 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.97A>G (p.Asn33Asp)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002580618]	ChrX:71111443 [GRCh38] ChrX:70331293 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.925-8G>A	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002746135]	ChrX:71107929 [GRCh38] ChrX:70327779 [GRCh37] ChrX:Xq13.1	likely benign
NM_000206.3(IL2RG):c.96G>T (p.Gly32=)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV003048688]	ChrX:71111444 [GRCh38] ChrX:70331294 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.116-14T>A	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002922809]	ChrX:71111064 [GRCh38] ChrX:70330914 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.839A>G (p.Tyr280Cys)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002933593]	ChrX:71108614 [GRCh38] ChrX:70328464 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.130_139del (p.Thr44fs)	deletion	X-linked severe combined immunodeficiency [RCV003032081]	ChrX:71111027..71111036 [GRCh38] ChrX:70330877..70330886 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.270G>C (p.Trp90Cys)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV002607397]	ChrX:71110688 [GRCh38] ChrX:70330538 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.964C>T (p.Gln322Ter)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV003050620]	ChrX:71107882 [GRCh38] ChrX:70327732 [GRCh37] ChrX:Xq13.1	pathogenic
NM_000206.3(IL2RG):c.340G>A (p.Gly114Ser)	single nucleotide variant	X-linked severe combined immunodeficiency [RCV003150601]	ChrX:71110618 [GRCh38] ChrX:70330468 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.681del (p.Phe227fs)	deletion	X-linked severe combined immunodeficiency [RCV003150603]	ChrX:71109304 [GRCh38] ChrX:70329154 [GRCh37] ChrX:Xq13.1	likely pathogenic
NM_000206.3(IL2RG):c.98A>G (p.Asn33Ser)	single nucleotide variant	not provided [RCV003131264]	ChrX:71111442 [GRCh38] ChrX:70331292 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_000206.3(IL2RG):c.239C>T (p.Pro80Leu)	single nucleotide variant	not provided [RCV003133702]	ChrX:71110927 [GRCh38] ChrX:70330777 [GRCh37] ChrX:Xq13.1	uncertain significance

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.

Markers in Region

SGC35235

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	70,327,314 - 70,327,517	UniSTS	GRCh37
Build 36	X	70,244,039 - 70,244,242	RGD	NCBI36
Celera	X	70,681,219 - 70,681,422	RGD
Cytogenetic Map	X	q13.1	UniSTS
HuRef	X	64,147,033 - 64,147,236	UniSTS
Whitehead-RH Map	X	163.3	UniSTS
NCBI RH Map	X	458.3	UniSTS

IL2RG

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	70,327,468 - 70,327,847	UniSTS	GRCh37
GRCh37	X	70,330,728 - 70,330,788	UniSTS	GRCh37
GRCh37	X	70,330,756 - 70,331,401	UniSTS	GRCh37
GRCh37	X	70,330,190 - 70,330,324	UniSTS	GRCh37
Build 36	X	70,247,481 - 70,248,126	RGD	NCBI36
Celera	X	70,684,661 - 70,685,306	RGD
Celera	X	70,684,633 - 70,684,693	UniSTS
Celera	X	70,681,373 - 70,681,752	UniSTS
Celera	X	70,684,095 - 70,684,229	UniSTS
Cytogenetic Map	X	q13.1	UniSTS
HuRef	X	64,150,033 - 64,150,682	UniSTS
HuRef	X	64,147,187 - 64,147,566	UniSTS

GDB:607640

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	70,330,855 - 70,331,383	UniSTS	GRCh37
Build 36	X	70,247,580 - 70,248,108	RGD	NCBI36
Celera	X	70,684,760 - 70,685,288	RGD
Cytogenetic Map	X	q13.1	UniSTS
HuRef	X	64,150,132 - 64,150,664	UniSTS

RH11053

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	70,330,788 - 70,330,980	UniSTS	GRCh37
Build 36	X	70,247,513 - 70,247,705	RGD	NCBI36
Celera	X	70,684,693 - 70,684,885	RGD
Cytogenetic Map	X	q13.1	UniSTS
HuRef	X	64,150,065 - 64,150,257	UniSTS
GeneMap99-GB4 RH Map	X	231.63	UniSTS
NCBI RH Map	X	365.4	UniSTS

RH17366

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	70,327,420 - 70,327,556	UniSTS	GRCh37
Build 36	X	70,244,145 - 70,244,281	RGD	NCBI36
Celera	X	70,681,325 - 70,681,461	RGD
Cytogenetic Map	X	q13.1	UniSTS
HuRef	X	64,147,139 - 64,147,275	UniSTS
GeneMap99-GB4 RH Map	X	238.8	UniSTS

GDB:375720

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	X	q13.1	UniSTS

IL2RG

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	X	q13.1	UniSTS

IL2RG

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	X	q13.1	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

753

934

301

221

1876

111

516

149

265

848

111

631

116

Low

1646

1925

1404

393

343

3411

1961

3095

206

1093

592

573

2497

Below cutoff

114

378

205

533

112

175

View RNA-SEQ Expression Data

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
	XM_047442089	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327012	(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
	CP068255	(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 Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	71,107,404 - 71,111,550 (-)	Ensembl

RefSeq Acc Id:

ENST00000374188 ⟹ ENSP00000363303

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	71,107,409 - 71,111,631 (-)	Ensembl

RefSeq Acc Id:

ENST00000374202 ⟹ ENSP00000363318

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	71,107,404 - 71,111,577 (-)	Ensembl

RefSeq Acc Id:

ENST00000456850 ⟹ ENSP00000388967

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	71,107,736 - 71,111,448 (-)	Ensembl

RefSeq Acc Id:

ENST00000464642 ⟹ ENSP00000425233

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	71,108,662 - 71,112,108 (-)	Ensembl

RefSeq Acc Id:

ENST00000473378 ⟹ ENSP00000423601

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	71,110,597 - 71,111,554 (-)	Ensembl

RefSeq Acc Id:

ENST00000482750 ⟹ ENSP00000421262

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	71,107,716 - 71,111,590 (-)	Ensembl

RefSeq Acc Id:

ENST00000487883

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	71,110,186 - 71,111,560 (-)	Ensembl

RefSeq Acc Id:

ENST00000512747

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	71,107,409 - 71,111,606 (-)	Ensembl

RefSeq Acc Id:

ENST00000696903

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	71,107,414 - 71,111,590 (-)	Ensembl

RefSeq Acc Id:

NM_000206 ⟹ NP_000197

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	71,107,404 - 71,111,577 (-)	NCBI
GRCh37	X	70,327,254 - 70,331,481 (-)	ENTREZGENE
GRCh37	X	70,327,254 - 70,331,481 (-)	NCBI
Build 36	X	70,243,984 - 70,248,128 (-)	NCBI Archive
HuRef	X	64,146,973 - 64,150,762 (-)	ENTREZGENE
CHM1_1	X	70,219,589 - 70,223,820 (-)	NCBI
T2T-CHM13v2.0	X	69,541,496 - 69,545,673 (-)	NCBI

Sequence:

show sequence

ACAGACAGACTACACCCAGGGAATGAAGAGCAAGCGCCATGTTGAAGCCATCATTACCATTCAC
ATCCCTCTTATTCCTGCAGCTGCCCCTGCTGGGAGTGGGGCTGAACACGACAATTCTGACGCCC
AATGGGAATGAAGACACCACAGCTGATTTCTTCCTGACCACTATGCCCACTGACTCCCTCAGTG
TTTCCACTCTGCCCCTCCCAGAGGTTCAGTGTTTTGTGTTCAATGTCGAGTACATGAATTGCAC
TTGGAACAGCAGCTCTGAGCCCCAGCCTACCAACCTCACTCTGCATTATTGGTACAAGAACTCG
GATAATGATAAAGTCCAGAAGTGCAGCCACTATCTATTCTCTGAAGAAATCACTTCTGGCTGTC
AGTTGCAAAAAAAGGAGATCCACCTCTACCAAACATTTGTTGTTCAGCTCCAGGACCCACGGGA
ACCCAGGAGACAGGCCACACAGATGCTAAAACTGCAGAATCTGGTGATCCCCTGGGCTCCAGAG
AACCTAACACTTCACAAACTGAGTGAATCCCAGCTAGAACTGAACTGGAACAACAGATTCTTGA
ACCACTGTTTGGAGCACTTGGTGCAGTACCGGACTGACTGGGACCACAGCTGGACTGAACAATC
AGTGGATTATAGACATAAGTTCTCCTTGCCTAGTGTGGATGGGCAGAAACGCTACACGTTTCGT
GTTCGGAGCCGCTTTAACCCACTCTGTGGAAGTGCTCAGCATTGGAGTGAATGGAGCCACCCAA
TCCACTGGGGGAGCAATACTTCAAAAGAGAATCCTTTCCTGTTTGCATTGGAAGCCGTGGTTAT
CTCTGTTGGCTCCATGGGATTGATTATCAGCCTTCTCTGTGTGTATTTCTGGCTGGAACGGACG
ATGCCCCGAATTCCCACCCTGAAGAACCTAGAGGATCTTGTTACTGAATACCACGGGAACTTTT
CGGCCTGGAGTGGTGTGTCTAAGGGACTGGCTGAGAGTCTGCAGCCAGACTACAGTGAACGACT
CTGCCTCGTCAGTGAGATTCCCCCAAAAGGAGGGGCCCTTGGGGAGGGGCCTGGGGCCTCCCCA
TGCAACCAGCATAGCCCCTACTGGGCCCCCCCATGTTACACCCTAAAGCCTGAAACCTGAACCC
CAATCCTCTGACAGAAGAACCCCAGGGTCCTGTAGCCCTAAGTGGTACTAACTTTCCTTCATTC
AACCCACCTGCGTCTCATACTCACCTCACCCCACTGTGGCTGATTTGGAATTTTGTGCCCCCAT
GTAAGCACCCCTTCATTTGGCATTCCCCACTTGAGAATTACCCTTTTGCCCCGAACATGTTTTT
CTTCTCCCTCAGTCTGGCCCTTCCTTTTCGCAGGATTCTTCCTCCCTCCCTCTTTCCCTCCCTT
CCTCTTTCCATCTACCCTCCGATTGTTCCTGAACCGATGAGAAATAAAGTTTCTGTTGATAATC
ATCAAAAA

hide sequence

RefSeq Acc Id:

XM_047442089 ⟹ XP_047298045

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	71,107,404 - 71,111,577 (-)	NCBI

RefSeq Acc Id:

XM_054327012 ⟹ XP_054182987

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	69,541,496 - 69,545,673 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_000197	(Get FASTA)	NCBI Sequence Viewer
	XP_047298045	(Get FASTA)	NCBI Sequence Viewer
	XP_054182987	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA59145	(Get FASTA)	NCBI Sequence Viewer
	AAC37524	(Get FASTA)	NCBI Sequence Viewer
	AAH14972	(Get FASTA)	NCBI Sequence Viewer
	AAT85803	(Get FASTA)	NCBI Sequence Viewer
	AKO71446	(Get FASTA)	NCBI Sequence Viewer
	BAA01857	(Get FASTA)	NCBI Sequence Viewer
	BAA03861	(Get FASTA)	NCBI Sequence Viewer
	BAD89384	(Get FASTA)	NCBI Sequence Viewer
	BAD89385	(Get FASTA)	NCBI Sequence Viewer
	BAD89386	(Get FASTA)	NCBI Sequence Viewer
	BAD89387	(Get FASTA)	NCBI Sequence Viewer
	BAD89388	(Get FASTA)	NCBI Sequence Viewer
	BAG37438	(Get FASTA)	NCBI Sequence Viewer
	BAH12839	(Get FASTA)	NCBI Sequence Viewer
	CAX52142	(Get FASTA)	NCBI Sequence Viewer
	CAX52189	(Get FASTA)	NCBI Sequence Viewer
	EAX05319	(Get FASTA)	NCBI Sequence Viewer
	P31785	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_000197 ⟸ NM_000206
- Peptide Label:	precursor
- UniProtKB:	Q5FC12 (UniProtKB/Swiss-Prot), P31785 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLKPSLPFTSLLFLQLPLLGVGLNTTILTPNGNEDTTADFFLTTMPTDSLSVSTLPLPEVQCFV FNVEYMNCTWNSSSEPQPTNLTLHYWYKNSDNDKVQKCSHYLFSEEITSGCQLQKKEIHLYQTF VVQLQDPREPRRQATQMLKLQNLVIPWAPENLTLHKLSESQLELNWNNRFLNHCLEHLVQYRTD WDHSWTEQSVDYRHKFSLPSVDGQKRYTFRVRSRFNPLCGSAQHWSEWSHPIHWGSNTSKENPF LFALEAVVISVGSMGLIISLLCVYFWLERTMPRIPTLKNLEDLVTEYHGNFSAWSGVSKGLAES LQPDYSERLCLVSEIPPKGGALGEGPGASPCNQHSPYWAPPCYTLKPET hide 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

RefSeq Acc Id:	XP_047298045 ⟸ XM_047442089
- Peptide Label:	isoform X1
- UniProtKB:	H0Y8J6 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_054182987 ⟸ XM_054327012
- Peptide Label:	isoform X1

Protein Domains

Fibronectin type-III Type I cytokine receptor cytokine-binding

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P31785-F1-model_v2	AlphaFold	P31785	1-369	view protein structure

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 Assembly	Chr	Position (strand)	Source
Build 36	X	70,245,516 - 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 Assembly	Chr	Position (strand)	Source
Build 36	X	70,246,991 - 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 Assembly	Chr	Position (strand)	Source
Build 36	X	70,247,551 - 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 Assembly	Chr	Position (strand)	Source
Build 36	X	70,248,150 - 70,248,210	EPD

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 Assembly	Chr	Position (strand)	Source
GRCh38	X	71,111,575 - 71,111,635	EPDNEW

Additional Information

External Database Links

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	ENSP00000363318	ENTREZGENE
	ENSP00000363318.3	UniProtKB/Swiss-Prot
	ENSP00000421262	ENTREZGENE
	ENSP00000421262.2	UniProtKB/TrEMBL
	ENSP00000423601.1	UniProtKB/TrEMBL
	ENSP00000425233.1	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000374202	ENTREZGENE
	ENST00000374202.7	UniProtKB/Swiss-Prot
	ENST00000464642.5	UniProtKB/TrEMBL
	ENST00000473378.1	UniProtKB/TrEMBL
	ENST00000482750	ENTREZGENE
	ENST00000482750.6	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	308380	OMIM
PANTHER	CYTOKINE RECEPTOR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	INTERLEUKIN 2 RECEPTOR GAMMA COMMON.B	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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	ENTREZGENE, UniProtKB/TrEMBL
	IL2RG_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q5FC09_HUMAN	UniProtKB/TrEMBL
	Q5FC10_HUMAN	UniProtKB/TrEMBL
	Q5FC11_HUMAN	UniProtKB/TrEMBL
	Q5FC12	ENTREZGENE
	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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar