XIAP (X-linked inhibitor of apoptosis)

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Gene: XIAP (X-linked inhibitor of apoptosis) Homo sapiens

Analyze

Symbol:

XIAP

Name:

X-linked inhibitor of apoptosis

RGD ID:

1353417

HGNC Page

HGNC:592

Description:

Enables several functions, including cysteine-type endopeptidase inhibitor activity involved in apoptotic process; identical protein binding activity; and protein serine/threonine kinase binding activity. Involved in several processes, including nucleotide-binding activity oligomerization domain containing signaling pathway; positive regulation of macromolecule metabolic process; and regulation of signal transduction. Acts upstream of with a negative effect on regulation of apoptotic process. Located in cytoplasm and nucleus. Implicated in X-linked lymphoproliferative syndrome 2 and prostate cancer. Biomarker of breast cancer (multiple); cervix uteri carcinoma in situ; colorectal cancer; prostate cancer; and renal cell carcinoma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

API3; apoptosis inhibitor 3; baculoviral IAP repeat-containing protein 4; BIRC4; E3 ubiquitin-protein ligase XIAP; FLJ26913; hIAP-3; hIAP3; IAP-3; IAP-like protein; IAP-like protein 1; ILP1; inhibitor of apoptosis protein 3; MIHA; RING-type E3 ubiquitin transferase XIAP; X-linked IAP; X-linked inhibitor of apoptosis protein; X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase; XLP2

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Xiap (X-linked inhibitor of apoptosis)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Xiap (X-linked inhibitor of apoptosis)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, Panther, PhylomeDB
Chinchilla lanigera (long-tailed chinchilla):	Xiap (X-linked inhibitor of apoptosis)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	XIAP (X-linked inhibitor of apoptosis)	NCBI	Ortholog
Canis lupus familiaris (dog):	XIAP (X-linked inhibitor of apoptosis)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoMCL, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Xiap (X-linked inhibitor of apoptosis)	NCBI	Ortholog
Sus scrofa (pig):	XIAP (X-linked inhibitor of apoptosis)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	XIAP (X-linked inhibitor of apoptosis)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Xiap (X-linked inhibitor of apoptosis)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Xiap (X-linked inhibitor of apoptosis)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	xiap (X-linked inhibitor of apoptosis)	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	Diap2	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	xiap	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	xiap.L	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

XIAPP2 XIAPP3

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	123,859,708 - 123,913,972 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	123,859,712 - 123,913,972 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	122,993,558 - 123,047,822 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	122,821,729 - 122,875,503 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	122,719,582 - 122,773,357	NCBI
Celera	X	123,378,893 - 123,432,624 (+)	NCBI		Celera
Cytogenetic Map	X	q25	NCBI
HuRef	X	112,377,835 - 112,430,903 (+)	NCBI		HuRef
CHM1_1	X	122,904,824 - 122,959,188 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	122,170,108 - 122,224,373 (+)	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

adrenocortical carcinoma (HEP)

amyotrophic lateral sclerosis type 1 (EXP)

autistic disorder (IAGP)

breast cancer (IEP)

breast carcinoma (HEP)

breast ductal carcinoma (IEP)

cervix uteri carcinoma in situ (IEP)

Chediak-Higashi syndrome (IAGP)

clear cell renal cell carcinoma (HEP)

colorectal cancer (IEP)

disease by infectious agent (IAGP)

Esophageal Neoplasms (EXP)

Experimental Mammary Neoplasms (EXP)

gastric adenocarcinoma (HEP)

genetic disease (IAGP)

lymphoproliferative syndrome (EXP,IAGP)

lymphoproliferative syndrome 2 (IAGP)

malignant pleural mesothelioma (HEP)

Mesothelioma (HEP)

Myocardial Reperfusion Injury (EXP)

Ovarian Neoplasms (EXP,IMP)

papillary renal cell carcinoma (HEP)

prostate cancer (IEP,IMP)

Prostatic Neoplasms (ISO)

renal cell carcinoma (IEP)

Sepsis (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

Uterine Cervical Neoplasms (IEP)

X Chromosome, Trisomy Xq25 (IAGP)

X-linked lymphoproliferative syndrome 1 (IAGP)

X-linked lymphoproliferative syndrome 2 (EXP,IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

(1->4)-beta-D-glucan (ISO)

(S)-nicotine (EXP)

1'-acetoxychavicol acetate (EXP)

1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane (ISO)

1,2-dimethylhydrazine (ISO)

15-deoxy-Delta(12,14)-prostaglandin J2 (EXP)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP,ISO)

1H-[1,2,4]oxadiazolo[4,3-a]quinoxalin-1-one (EXP)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',4,4'-Tetrabromodiphenyl ether (EXP,ISO)

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

2,4-dinitrotoluene (ISO)

2,5-hexanedione (ISO)

2,6-dinitrotoluene (ISO)

2-amino-2-deoxy-D-galactopyranose (ISO)

2-deoxy-D-glucose (EXP)

2-Hydroxy-6-(8,11,14-pentadecatrienyl)benzoic acid (EXP)

2-methoxy-17beta-estradiol (EXP)

2-phenylethynesulfonamide (EXP)

3,3',5,5'-tetrabromobisphenol A (ISO)

3,3'-diindolylmethane (EXP)

3-chloropropane-1,2-diol (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

3-phenylprop-2-enal (EXP)

4,4'-diaminodiphenylmethane (ISO)

4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one (EXP)

4-hydroxyphenyl retinamide (EXP)

5-aza-2'-deoxycytidine (EXP)

5-fluorouracil (EXP)

acetylsalicylic acid (EXP,ISO)

aclacinomycin A (EXP)

acrolein (EXP)

actinomycin D (EXP)

aflatoxin B1 (EXP,ISO)

all-trans-retinoic acid (EXP)

alpha-pinene (EXP)

alvocidib (EXP)

ammonium chloride (ISO)

andrographolide (EXP)

anthra[1,9-cd]pyrazol-6(2H)-one (EXP)

aprepitant (EXP)

arsane (EXP)

arsenic atom (EXP)

arsenous acid (EXP,ISO)

atrazine (EXP)

baicalein (ISO)

BAPTA (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[a]pyrene diol epoxide I (EXP)

bisphenol A (ISO)

bortezomib (EXP)

bromobenzene (ISO)

Brusatol (EXP)

busulfan (EXP)

cadmium atom (EXP)

cadmium dichloride (EXP,ISO)

calcitriol (EXP)

Calpeptin (EXP)

camptothecin (EXP,ISO)

cannabidiol (EXP)

cantharidin (EXP)

carbamazepine (EXP)

casticin (EXP)

ceruletide (ISO)

CGP 52608 (EXP)

chloroprene (ISO)

chlorpyrifos (EXP,ISO)

chromium(6+) (EXP)

chrysazin (EXP)

chrysin (EXP)

ciglitazone (EXP)

Cinobufagin (EXP)

cisplatin (EXP)

cladribine (EXP)

clofarabine (EXP)

clofibrate (ISO)

colforsin daropate hydrochloride (EXP)

copper atom (EXP)

copper(0) (EXP)

copper(II) sulfate (EXP)

cordycepin (EXP)

corn oil (ISO)

crizotinib (EXP)

crocidolite asbestos (EXP)

curcumin (EXP)

cycloheximide (ISO)

cyclosporin A (EXP,ISO)

cypermethrin (EXP)

cyproconazole (ISO)

cytarabine (EXP)

deguelin (EXP)

demethoxycurcumin (EXP)

dexamethasone (EXP)

dextran sulfate (ISO)

diallyl disulfide (EXP)

Diallyl sulfide (EXP)

diallyl trisulfide (EXP,ISO)

diarsenic trioxide (EXP,ISO)

dibutyl phthalate (ISO)

diclofenac (EXP,ISO)

donepezil hydrochloride (ISO)

dorsomorphin (EXP)

doxorubicin (EXP,ISO)

Echinocystic acid (EXP)

ellipticine (EXP)

embelin (EXP,ISO)

emetine (ISO)

entinostat (EXP)

enzyme inhibitor (EXP)

epoxiconazole (ISO)

estrone (EXP)

etacrynic acid (EXP)

ethanol (EXP,ISO)

Evodiamine (EXP)

fenvalerate (EXP,ISO)

fluoxetine (ISO)

flutamide (ISO)

furan (ISO)

furosemide (ISO)

Fusarenone X (ISO)

gadodiamide hydrate (EXP)

gallic acid (EXP)

gemcitabine (EXP)

genistein (EXP)

gentamycin (ISO)

gingerol (EXP)

glutathione (EXP)

glyphosate (EXP,ISO)

guggulsterone (EXP)

gusperimus (EXP)

Hexamethonium (EXP)

hydrazine (EXP)

hydrogen cyanide (ISO)

hydrogen peroxide (EXP,ISO)

hyperforin (EXP)

idarubicin (EXP)

indole-3-methanol (EXP)

indometacin (EXP)

irinotecan (EXP)

isoflurane (ISO)

LCL161 (EXP)

lead diacetate (ISO)

lead(0) (ISO)

lipopolysaccharide (EXP,ISO)

lonafarnib (EXP)

lonidamine (EXP)

lovastatin (ISO)

luteolin (EXP)

LY294002 (EXP)

Magnolol (EXP)

mangiferin (EXP)

melittin (EXP)

mercury dichloride (EXP)

methylparaben (EXP)

metiram (EXP)

minocycline (EXP,ISO)

mitomycin C (EXP)

Mitotane (ISO)

mitoxantrone (EXP)

Myrtucommulone A (ISO)

N-(2-aminoethyl)-5-chloroisoquinoline-8-sulfonamide (EXP)

N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide (EXP)

N-acetyl-L-cysteine (EXP)

N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal (EXP,ISO)

N-methyl-N-nitrosourea (EXP)

N-tosyl-L-phenylalanyl chloromethyl ketone (EXP)

nickel subsulfide (ISO)

niclosamide (EXP)

nicotine (EXP)

nitric oxide (EXP,ISO)

ozone (EXP)

p-menthan-3-ol (EXP)

paclitaxel (EXP)

paracetamol (EXP,ISO)

paraquat (EXP)

PCB138 (ISO)

pentachlorophenol (EXP,ISO)

pentobarbital (ISO)

Pentoxifylline (EXP)

perfluorooctane-1-sulfonic acid (ISO)

PHA-665752 (EXP)

phenethyl caffeate (EXP)

phenethyl isothiocyanate (EXP)

phenformin (ISO)

phenobarbital (ISO)

phlorizin (ISO)

pirinixic acid (ISO)

potassium cyanide (ISO)

propiconazole (ISO)

puerarin (ISO)

pyrethrins (EXP)

quercetin (EXP)

reactive oxygen species (EXP)

Rebamipide (EXP)

regorafenib (EXP)

resveratrol (EXP,ISO)

rifampicin (EXP)

romidepsin (EXP)

rottlerin (EXP)

sanguinarine (EXP)

SB 203580 (EXP)

SB 431542 (EXP)

silicon dioxide (EXP)

simvastatin (ISO)

sirolimus (EXP)

sodium arsenate (ISO)

sodium arsenite (EXP)

sorafenib (EXP)

spermidine (EXP)

streptozocin (ISO)

sulforaphane (EXP)

sulindac (EXP)

tanespimycin (EXP)

temozolomide (EXP)

testosterone undecanoate (EXP)

thalidomide (EXP)

thapsigargin (EXP,ISO)

theophylline (EXP)

thimerosal (EXP)

thioacetamide (ISO)

thymoquinone (EXP)

titanium dioxide (ISO)

topotecan (EXP,ISO)

Tributyltin oxide (ISO)

trichostatin A (EXP)

Triptolide (EXP)

triptonide (ISO)

trovafloxacin (EXP,ISO)

valdecoxib (ISO)

valproic acid (EXP,ISO)

venom (EXP)

vitamin E (EXP)

vorinostat (EXP)

WIN 55212-2 (EXP)

zerumbone (EXP)

zinc atom (EXP,ISO)

zinc(0) (EXP,ISO)

zoledronic acid (EXP)

zorubicin (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

apoptotic process (IEA)

cellular response to hydrogen peroxide (ISO)

copper ion homeostasis (TAS)

defense response to bacterium (IDA)

DNA damage response (IEP)

negative regulation of apoptotic process (IBA,IDA,IEA,IMP,ISO)

negative regulation of neuron apoptotic process (ISO)

negative regulation of tumor necrosis factor-mediated signaling pathway (IDA)

neuron apoptotic process (IEA,ISO)

nucleotide-binding oligomerization domain containing 1 signaling pathway (IDA)

nucleotide-binding oligomerization domain containing 2 signaling pathway (IDA)

positive regulation of canonical NF-kappaB signal transduction (IDA)

positive regulation of canonical Wnt signaling pathway (IBA,IMP)

positive regulation of JNK cascade (IDA)

positive regulation of protein linear polyubiquitination (IDA)

positive regulation of protein ubiquitination (IBA,IDA,IEA)

positive regulation of type I interferon production (IDA)

protein K63-linked ubiquitination (IDA)

regulation of apoptosis involved in tissue homeostasis (IEA)

regulation of apoptotic process (IDA,IEA)

regulation of BMP signaling pathway (TAS)

regulation of cell cycle (IBA)

regulation of cell population proliferation (TAS)

regulation of inflammatory response (TAS)

regulation of innate immune response (TAS)

regulation of nucleotide-binding oligomerization domain containing signaling pathway (TAS)

Wnt signaling pathway (IEA)

Cellular Component

cytoplasm (IBA,IC,IDA,IEA,TAS)

cytosol (TAS)

nucleoplasm (TAS)

nucleus (IBA,IDA,IEA)

perinuclear region of cytoplasm (ISO)

protein-containing complex (ISO)

Molecular Function

cysteine-type endopeptidase inhibitor activity (IEA)

cysteine-type endopeptidase inhibitor activity involved in apoptotic process (IBA,IDA)

endopeptidase regulator activity (IDA)

identical protein binding (IPI)

metal ion binding (IEA)

peptidase inhibitor activity (IEA)

protease binding (ISO)

protein binding (IPI,ISO)

protein serine/threonine kinase binding (IPI)

scaffold protein binding (ISO)

transferase activity (IEA)

ubiquitin protein ligase activity (EXP,IBA,IDA,TAS)

ubiquitin-protein transferase activity (IDA,IMP)

Molecular Pathway Annotations Click to see Annotation Detail View

apoptotic cell death pathway (IEA)

Bone morphogenetic proteins signaling pathway (EXP)

intrinsic apoptotic pathway (ISO)

NOD-like receptor signaling pathway (IEA)

small cell lung carcinoma pathway (IEA)

toxoplasmosis pathway (IEA)

transforming growth factor-beta Smad dependent signaling pathway (EXP)

ubiquitin/proteasome degradation pathway (IEA)

External Pathway Database Links

KEGG Pathway

NOD-like receptor signaling pathway

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal B cell count (IAGP)

Abnormal T cell count (IAGP)

Acne (IAGP)

Aplastic anemia (IAGP)

Autism (IAGP)

Burkitt lymphoma (IAGP)

Childhood onset (IAGP)

Colitis (IAGP)

Decreased circulating antibody level (IAGP)

Decreased circulating IgG level (IAGP)

Dysgammaglobulinemia (IAGP)

Elevated circulating C-reactive protein concentration (IAGP)

Erythema nodosum (IAGP)

Fever (IAGP)

Folliculitis (IAGP)

Fulminant hepatitis (IAGP)

Hemophagocytosis (IAGP)

Hepatic encephalopathy (IAGP)

Hepatic failure (IAGP)

Hepatitis (IAGP)

Hepatomegaly (IAGP)

Hypertriglyceridemia (IAGP)

Hypoalbuminemia (IAGP)

Hypofibrinogenemia (IAGP)

Immunodeficiency (IAGP)

Increased circulating ferritin concentration (IAGP)

Increased circulating IgM level (IAGP)

Infectious encephalitis (IAGP)

Inflammation of the large intestine (IAGP)

Lymphadenopathy (IAGP)

Lymphocytosis (IAGP)

Lymphoma (IAGP)

Lymphoproliferative disorder (IAGP)

Meningitis (IAGP)

Neutropenia (IAGP)

Pancytopenia (IAGP)

Recurrent fever (IAGP)

Recurrent infections (IAGP)

Recurrent pharyngitis (IAGP)

Recurrent respiratory infections (IAGP)

Recurrent skin infections (IAGP)

Reduced natural killer cell activity (IAGP)

Sepsis (IAGP)

Severe Epstein Barr virus infection (IAGP)

Splenomegaly (IAGP)

Thrombocytopenia (IAGP)

Vasculitis (IAGP)

X-linked inheritance (IAGP)

X-linked recessive inheritance (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Immunohistochemical detection of the X-linked inhibitor of apoptosis protein (XIAP) in cervical squamous intraepithelial neoplasia and squamous carcinoma.	Burstein DE, etal., Ann Diagn Pathol. 2008 Apr;12(2):85-9. Epub 2007 Oct 18.
2.	Micellar delivery of bicalutamide and embelin for treating prostate cancer.	Danquah M, etal., Pharm Res. 2009 Sep;26(9):2081-92. Epub 2009 May 5.
3.	Death receptor 5 (DR5) and a 5-gene apoptotic biomarker panel with significant differential diagnostic potential in colorectal cancer.	Devetzi M, etal., Sci Rep. 2016 Nov 9;6:36532. doi: 10.1038/srep36532.
4.	Targeting inhibitor of apoptosis proteins in combination with ErbB antagonists in breast cancer.	Foster FM, etal., Breast Cancer Res. 2009;11(3):R41. Epub 2009 Jun 29.
5.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
6.	Expression patterns of inhibitor of apoptosis proteins in malignant pleural mesothelioma.	Gordon GJ, etal., J Pathol. 2007 Mar;211(4):447-54. doi: 10.1002/path.2121.
7.	X-linked inhibitor of apoptosis deficiency in the TRAMP mouse prostate cancer model.	Hwang C, etal., Cell Death Differ. 2008 May;15(5):831-40. Epub 2008 Feb 8.
8.	Immunohistochemical detection of antiapoptotic protein X-linked inhibitor of apoptosis in mammary carcinoma.	Jaffer S, etal., Hum Pathol. 2007 Jun;38(6):864-70. Epub 2007 Mar 12.
9.	2-phenylethynesulfonamide inhibits growth of oral squamous cell carcinoma cells by blocking the function of heat shock protein 70.	Jiang L and Xiao J, Biosci Rep. 2020 Mar 27;40(3). pii: 222262. doi: 10.1042/BSR20200079.
10.	Comprehensive molecular characterization of inhibitors of apoptosis proteins (IAPs) for therapeutic targeting in cancer.	Liang J, etal., BMC Med Genomics. 2020 Jan 21;13(1):7. doi: 10.1186/s12920-020-0661-x.
11.	XIAP gene downregulation by small interfering RNA inhibits proliferation, induces apoptosis, and reverses the cisplatin resistance of ovarian carcinoma.	Ma JJ, etal., Eur J Obstet Gynecol Reprod Biol. 2009 Oct;146(2):222-6. Epub 2009 Sep 15.
12.	Overexpression of XIAP expression in renal cell carcinoma predicts a worse prognosis.	Mizutani Y, etal., Int J Oncol. 2007 Apr;30(4):919-25.
13.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
14.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
15.	PID Annotation Import Pipeline	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
16.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
18.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
19.	Expression of X-linked inhibitor of apoptosis protein is a strong predictor of human prostate cancer recurrence.	Seligson DB, etal., Clin Cancer Res. 2007 Oct 15;13(20):6056-63.
20.	Role of inhibitor of apoptosis protein in gentamicin-induced cochlear hair cell damage.	Tabuchi K, etal., Neuroscience. 2007 Oct 12;149(1):213-22. Epub 2007 Aug 2.
21.	Synergistic effects of IAP inhibitor LCL161 and paclitaxel on hepatocellular carcinoma cells.	Tian A, etal., Cancer Lett. 2014 Sep 1;351(2):232-41. doi: 10.1016/j.canlet.2014.06.006. Epub 2014 Jun 27.

Additional References at PubMed

PMID:8552191	PMID:8654366	PMID:8938457	PMID:9205126	PMID:9230442	PMID:9384571	PMID:9525868	PMID:9545235	PMID:9878061	PMID:10929712	PMID:11140637	PMID:11140638
PMID:11175744	PMID:11242052	PMID:11257230	PMID:11257231	PMID:11257232	PMID:11356828	PMID:11359776	PMID:11379817	PMID:11390657	PMID:11447297	PMID:11546791	PMID:11583623
PMID:11597143	PMID:11598496	PMID:11602612	PMID:11604410	PMID:11606597	PMID:11724934	PMID:11801603	PMID:11803371	PMID:11807766	PMID:11832478	PMID:11865055	PMID:11927604
PMID:11972398	PMID:12021770	PMID:12048196	PMID:12121969	PMID:12121983	PMID:12218061	PMID:12243753	PMID:12388702	PMID:12477932	PMID:12482981	PMID:12511567	PMID:12525502
PMID:12592339	PMID:12620238	PMID:12624662	PMID:12660240	PMID:12691733	PMID:12725530	PMID:12747801	PMID:12835328	PMID:12851723	PMID:12855663	PMID:12865429	PMID:12970762
PMID:14512414	PMID:14523016	PMID:14532997	PMID:14570909	PMID:14685242	PMID:14685266	PMID:14759516	PMID:15029247	PMID:15037009	PMID:15044484	PMID:15069192	PMID:15173080
PMID:15178455	PMID:15200957	PMID:15201285	PMID:15207275	PMID:15218035	PMID:15280366	PMID:15282301	PMID:15292176	PMID:15297970	PMID:15300255	PMID:15337764	PMID:15353805
PMID:15359644	PMID:15489334	PMID:15507451	PMID:15531913	PMID:15541727	PMID:15570290	PMID:15580265	PMID:15650747	PMID:15665297	PMID:15677500	PMID:15749826	PMID:15772651
PMID:15781261	PMID:16007220	PMID:16142363	PMID:16189514	PMID:16211302	PMID:16263936	PMID:16278380	PMID:16282325	PMID:16322207	PMID:16338389	PMID:16343440	PMID:16344307
PMID:16344560	PMID:16394139	PMID:16543147	PMID:16603637	PMID:16701639	PMID:16732928	PMID:16775419	PMID:16799641	PMID:16868249	PMID:16869888	PMID:16887178	PMID:16916640
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PMID:24188482	PMID:24194568	PMID:24247248	PMID:24305822	PMID:24344018	PMID:24371121	PMID:24422988	PMID:24425875	PMID:24446252	PMID:24552816	PMID:24572142	PMID:24603802
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PMID:33941563	PMID:33961781	PMID:34079125	PMID:34247143	PMID:34315543	PMID:34546853	PMID:34739338	PMID:34739342	PMID:34842329	PMID:34981461	PMID:35000057	PMID:35256949
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PMID:36215168	PMID:36243803	PMID:36270981	PMID:36346305	PMID:36394357	PMID:36572190	PMID:36578953	PMID:36647737	PMID:36675207	PMID:36749823	PMID:36931259	PMID:37451424

Genomics

Comparative Map Data

XIAP
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	123,859,708 - 123,913,972 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	123,859,712 - 123,913,972 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	122,993,558 - 123,047,822 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	122,821,729 - 122,875,503 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	122,719,582 - 122,773,357	NCBI
Celera	X	123,378,893 - 123,432,624 (+)	NCBI		Celera
Cytogenetic Map	X	q25	NCBI
HuRef	X	112,377,835 - 112,430,903 (+)	NCBI		HuRef
CHM1_1	X	122,904,824 - 122,959,188 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	122,170,108 - 122,224,373 (+)	NCBI		T2T-CHM13v2.0

Xiap
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	41,148,483 - 41,198,541 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	41,148,556 - 41,198,533 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	42,059,613 - 42,109,664 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	42,059,679 - 42,109,656 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	39,421,013 - 39,462,841 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	38,338,355 - 38,350,128 (+)	NCBI		MGSCv36	mm8
Celera	X	29,643,660 - 29,685,399 (+)	NCBI		Celera
Cytogenetic Map	X	A4	NCBI
cM Map	X	23.19	NCBI

Xiap
(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	120,890,537 - 120,938,413 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	120,897,907 - 120,934,700 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	123,009,934 - 123,046,397 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	126,531,344 - 126,567,796 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	124,125,427 - 124,161,835 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	128,409,425 - 128,455,786 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	128,409,472 - 128,453,000 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	128,500,115 - 128,546,515 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	3,011,520 - 3,047,798 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	X	3,013,139 - 3,049,418 (-)	NCBI
Celera	X	120,012,721 - 120,049,014 (+)	NCBI		Celera
Cytogenetic Map	X	q35	NCBI

Xiap
(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_004955473	10,827,435 - 10,840,604 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955473	10,823,795 - 10,878,256 (-)	NCBI	ChiLan1.0	ChiLan1.0

XIAP
(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	123,336,052 - 123,389,136 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	113,052,164 - 113,105,160 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	123,232,643 - 123,284,912 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	123,232,643 - 123,278,606 (+)	Ensembl	panpan1.1		panPan2

XIAP
(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	95,300,234 - 95,356,103 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	95,331,827 - 95,351,582 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	81,399,414 - 81,419,171 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	97,072,115 - 97,127,995 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	97,072,142 - 97,127,986 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	94,548,275 - 94,568,035 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	96,304,355 - 96,324,070 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	96,093,813 - 96,113,573 (+)	NCBI		UU_Cfam_GSD_1.0

Xiap
(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	94,265,438 - 94,309,960 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936479	6,677,526 - 6,722,116 (-)	Ensembl	SpeTri2.0
SpeTri2.0	NW_004936479	6,677,533 - 6,724,800 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

XIAP
(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	101,399,812 - 101,440,013 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	101,399,374 - 101,440,021 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	116,234,274 - 116,253,044 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

XIAP
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Vero_WHO_p1.0	NW_023666065	36,593,463 - 36,643,836 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in XIAP
260 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001167.4(XIAP):c.1021_1022del (p.Asn341fs)	deletion	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000515791]	ChrX:123891281..123891282 [GRCh38] ChrX:123025131..123025132 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.608G>A (p.Cys203Tyr)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000030806]	ChrX:123886270 [GRCh38] ChrX:123020120 [GRCh37] ChrX:Xq25	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
NM_001167.4(XIAP):c.171A>G (p.Glu57=)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000553259]	ChrX:123885833 [GRCh38] ChrX:123019683 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.292del (p.Glu99fs)	deletion	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000012411]	ChrX:123885954 [GRCh38] ChrX:123019804 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.352G>T (p.Glu118Ter)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000012412]	ChrX:123886014 [GRCh38] ChrX:123019864 [GRCh37] ChrX:Xq25	pathogenic
NG_007264.1:g.(31343_33421)_(33522_36040)del	deletion	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000012413]	ChrX:Xq25	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 Xq23-28(chrX:115417992-156022206)x1	copy number loss	See cases [RCV000051160]	ChrX:115417992..156022206 [GRCh38] ChrX:114652461..155251871 [GRCh37] ChrX:114558717..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	copy number loss	See cases [RCV000051665]	ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28	pathogenic
GRCh38/hg38 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 Xq23-28(chrX:116264813-155980575)x1	copy number loss	See cases [RCV000051728]	ChrX:116264813..155980575 [GRCh38] ChrX:115396069..155210240 [GRCh37] ChrX:115310097..154863434 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1	copy number loss	See cases [RCV000051713]	ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|See cases [RCV000052327]	ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	copy number gain	See cases [RCV000052324]	ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq13.2-27.1(chrX:73008114-140201321)x4	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|See cases [RCV000052418]	ChrX:73008114..140201321 [GRCh38] ChrX:72227953..139283477 [GRCh37] ChrX:72144678..139111143 [NCBI36] ChrX:Xq13.2-27.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3	copy number gain	See cases [RCV000052325]	ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	copy number gain	See cases [RCV000052322]	ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	copy number gain	See cases [RCV000052438]	ChrX:81261589..126519353 [GRCh38] ChrX:80517088..125653336 [GRCh37] ChrX:80403744..125481017 [NCBI36] ChrX:Xq21.1-25	pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	copy number gain	See cases [RCV000052445]	ChrX:123731372..155687381 [GRCh38] ChrX:122865222..154917042 [GRCh37] ChrX:122692903..154570236 [NCBI36] ChrX:Xq25-28	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: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 Xq25(chrX:123735950-124254925)x2	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054247]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054247]\|See cases [RCV000054247]	ChrX:123735950..124254925 [GRCh38] ChrX:122869800..123388775 [GRCh37] ChrX:122697481..123216456 [NCBI36] ChrX:Xq25	uncertain significance
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
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	copy number loss	See cases [RCV000133792]	ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3	copy number gain	See cases [RCV000133744]	ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	copy number loss	See cases [RCV000134570]	ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq25(chrX:123859097-128717147)x3	copy number gain	See cases [RCV000134572]	ChrX:123859097..128717147 [GRCh38] ChrX:122992947..127851125 [GRCh37] ChrX:122820628..127678806 [NCBI36] ChrX:Xq25	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 Xq21.31-28(chrX:92222680-156016920)x1	copy number loss	See cases [RCV000135307]	ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	copy number loss	See cases [RCV000134958]	ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1	copy number loss	See cases [RCV000134947]	ChrX:114533139..156022206 [GRCh38] ChrX:113767592..155251871 [GRCh37] ChrX:113673848..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	copy number loss	See cases [RCV000135552]	ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1	copy number loss	See cases [RCV000135454]	ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	copy number loss	See cases [RCV000136478]	ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3	copy number gain	See cases [RCV000136552]	ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	copy number loss	See cases [RCV000136097]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3	copy number gain	See cases [RCV000136030]	ChrX:111745722..154555423 [GRCh38] ChrX:110988950..153783638 [GRCh37] ChrX:110875606..153436832 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	copy number loss	See cases [RCV000136094]	ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1	copy number loss	See cases [RCV000136083]	ChrX:79093152..156003229 [GRCh38] ChrX:78348649..155232894 [GRCh37] ChrX:78235305..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1	copy number loss	See cases [RCV000137113]	ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 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 Xq22.1-28(chrX:102197284-156003242)x1	copy number loss	See cases [RCV000137415]	ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28	pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1	copy number loss	See cases [RCV000137167]	ChrX:123793526..156022206 [GRCh38] ChrX:122927376..155251871 [GRCh37] ChrX:122755057..154905065 [NCBI36] ChrX:Xq25-28	pathogenic\|uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	copy number loss	See cases [RCV000137138]	ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3	copy number gain	See cases [RCV000138020]	ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3	copy number gain	See cases [RCV000138145]	ChrX:117260292..140201321 [GRCh38] ChrX:116394255..139283477 [GRCh37] ChrX:116278283..139111143 [NCBI36] ChrX:Xq23-27.1	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1	copy number loss	See cases [RCV000137887]	ChrX:106127173..156003242 [GRCh38] ChrX:105371166..155232907 [GRCh37] ChrX:105257822..154886101 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	copy number loss	See cases [RCV000138678]	ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1	copy number loss	See cases [RCV000138787]	ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1	copy number loss	See cases [RCV000138541]	ChrX:106465610..156003242 [GRCh38] ChrX:105708840..155232907 [GRCh37] ChrX:105595496..154886101 [NCBI36] ChrX:Xq22.3-28	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 Xq21.31-28(chrX:88339926-156003242)x1	copy number loss	See cases [RCV000139351]	ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28	pathogenic\|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1	copy number loss	See cases [RCV000139400]	ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28	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 Xq21.1-28(chrX:82096719-156004066)x1	copy number loss	See cases [RCV000141825]	ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1	copy number loss	See cases [RCV000142016]	ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xq25(chrX:123828673-127958010)x3	copy number gain	See cases [RCV000141805]	ChrX:123828673..127958010 [GRCh38] ChrX:122962523..127091989 [GRCh37] ChrX:122790204..126919670 [NCBI36] ChrX:Xq25	uncertain significance
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1	copy number loss	See cases [RCV000141743]	ChrX:119297670..156004066 [GRCh38] ChrX:118431633..155233731 [GRCh37] ChrX:118315661..154886925 [NCBI36] ChrX:Xq24-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1	copy number loss	See cases [RCV000142337]	ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1	copy number loss	See cases [RCV000142137]	ChrX:118856574..156004066 [GRCh38] ChrX:117990537..155233731 [GRCh37] ChrX:117874565..154886925 [NCBI36] ChrX:Xq24-28	pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1	copy number loss	See cases [RCV000142037]	ChrX:86626431..156004066 [GRCh38] ChrX:85881434..155233731 [GRCh37] ChrX:85768090..154886925 [NCBI36] ChrX:Xq21.2-28	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1	copy number loss	See cases [RCV000142190]	ChrX:106722296..156004066 [GRCh38] ChrX:105965526..155233731 [GRCh37] ChrX:105852182..154886925 [NCBI36] ChrX:Xq22.3-28	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 Xq23-28(chrX:111050385-156022206)x1	copy number loss	See cases [RCV000142577]	ChrX:111050385..156022206 [GRCh38] ChrX:110293613..155251871 [GRCh37] ChrX:110180269..154905065 [NCBI36] ChrX:Xq23-28	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 Xq13.2-28(chrX:74684615-156004066)x1	copy number loss	See cases [RCV000143424]	ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	copy number loss	See cases [RCV000143132]	ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	copy number gain	See cases [RCV000240143]	ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001167.4(XIAP):c.672dup (p.Pro225fs)	duplication	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000515784]	ChrX:123886331..123886332 [GRCh38] ChrX:123020181..123020182 [GRCh37] ChrX:Xq25	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 Xp22.33-q28(chrX:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [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 Xq11.1-28(chrX:62063537-155250222)x3	copy number gain	See cases [RCV000240148]	ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	copy number loss	See cases [RCV000240337]	ChrX:121022022..155211482 [GRCh37] ChrX:Xq25-28	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
GRCh37/hg19 Xq25(chrX:122992963-123211555)x2	copy number gain	See cases [RCV000240591]	ChrX:122992963..123211555 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro)	single nucleotide variant	Autoinflammatory syndrome [RCV002261025]\|X-linked lymphoproliferative disease due to XIAP deficiency [RCV000614222]\|not provided [RCV001610609]\|not specified [RCV000249776]	ChrX:123900661 [GRCh38] ChrX:123034511 [GRCh37] ChrX:Xq25	benign
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001167.4(XIAP):c.*2901T>C	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000285075]	ChrX:123910082 [GRCh38] ChrX:123043932 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*5180dup	duplication	Lymphoproliferative disorder [RCV001731650]	ChrX:123912348..123912349 [GRCh38] ChrX:123046198..123046199 [GRCh37] ChrX:Xq25	conflicting interpretations of pathogenicity
NM_001167.4(XIAP):c.*6211C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000288737]	ChrX:123913392 [GRCh38] ChrX:123047242 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*80G>C	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000288875]	ChrX:123907261 [GRCh38] ChrX:123041111 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*5756C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000290711]	ChrX:123912937 [GRCh38] ChrX:123046787 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*1958G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000276604]	ChrX:123909139 [GRCh38] ChrX:123042989 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*4610C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000279320]	ChrX:123911791 [GRCh38] ChrX:123045641 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*2682T>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000269864]	ChrX:123909863 [GRCh38] ChrX:123043713 [GRCh37] ChrX:Xq25	benign\|likely benign
NM_001167.4(XIAP):c.*3702dup	duplication	Lymphoproliferative disorder [RCV001731642]	ChrX:123910867..123910868 [GRCh38] ChrX:123044717..123044718 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*5295A>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000356999]	ChrX:123912476 [GRCh38] ChrX:123046326 [GRCh37] ChrX:Xq25	benign\|likely benign
NM_001167.4(XIAP):c.5068_5069insT	insertion	Lymphoproliferative disorder [RCV001731649]	ChrX:123912249..123912250 [GRCh38] ChrX:123046099..123046100 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*2401C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000367741]	ChrX:123909582 [GRCh38] ChrX:123043432 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*4015A>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000308280]	ChrX:123911196 [GRCh38] ChrX:123045046 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*4188T>C	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000358970]	ChrX:123911369 [GRCh38] ChrX:123045219 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*4024C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000360548]	ChrX:123911205 [GRCh38] ChrX:123045055 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*5180del	deletion	Lymphoproliferative disorder [RCV001731651]	ChrX:123912349 [GRCh38] ChrX:123046199 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*2521A>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000273169]	ChrX:123909702 [GRCh38] ChrX:123043552 [GRCh37] ChrX:Xq25	likely benign\|uncertain significance
NM_001167.4(XIAP):c.1100A>G (p.Asp367Gly)	single nucleotide variant	Autoinflammatory syndrome [RCV002263664]\|X-linked lymphoproliferative disease due to XIAP deficiency [RCV000273780]	ChrX:123900493 [GRCh38] ChrX:123034343 [GRCh37] ChrX:Xq25	benign\|likely benign\|uncertain significance
NM_001167.4(XIAP):c.2296_2300del	deletion	Lymphoproliferative disorder [RCV001731641]	ChrX:123909475..123909479 [GRCh38] ChrX:123043325..123043329 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*5505del	deletion	Lymphoproliferative disorder [RCV001731652]	ChrX:123912686 [GRCh38] ChrX:123046536 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.309G>A (p.Thr103=)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000890376]	ChrX:123885971 [GRCh38] ChrX:123019821 [GRCh37] ChrX:Xq25	benign\|likely benign
NM_001167.4(XIAP):c.*3707T>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000366168]	ChrX:123910888 [GRCh38] ChrX:123044738 [GRCh37] ChrX:Xq25	benign\|likely benign
NM_001167.4(XIAP):c.*3611C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000348986]	ChrX:123910792 [GRCh38] ChrX:123044642 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*3201A>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000278963]	ChrX:123910382 [GRCh38] ChrX:123044232 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*1940T>C	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000371005]	ChrX:123909121 [GRCh38] ChrX:123042971 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.4307_4309dup	duplication	Lymphoproliferative disorder [RCV001731644]	ChrX:123911477..123911478 [GRCh38] ChrX:123045327..123045328 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*4092G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000320582]	ChrX:123911273 [GRCh38] ChrX:123045123 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*4380G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000371879]	ChrX:123911561 [GRCh38] ChrX:123045411 [GRCh37] ChrX:Xq25	benign\|likely benign
NM_001167.4(XIAP):c.*870G>C	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000400634]	ChrX:123908051 [GRCh38] ChrX:123041901 [GRCh37] ChrX:Xq25	likely benign\|uncertain significance
NM_001167.4(XIAP):c.*6221G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000282776]	ChrX:123913402 [GRCh38] ChrX:123047252 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*2729C>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000322607]	ChrX:123909910 [GRCh38] ChrX:123043760 [GRCh37] ChrX:Xq25	benign\|likely benign
NM_001167.4(XIAP):c.*3040G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000375935]	ChrX:123910221 [GRCh38] ChrX:123044071 [GRCh37] ChrX:Xq25	benign\|likely benign
NM_001167.4(XIAP):c.*2845C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000377180]	ChrX:123910026 [GRCh38] ChrX:123043876 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*579G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000285860]	ChrX:123907760 [GRCh38] ChrX:123041610 [GRCh37] ChrX:Xq25	benign\|likely benign
NM_001167.4(XIAP):c.*2622G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000328296]	ChrX:123909803 [GRCh38] ChrX:123043653 [GRCh37] ChrX:Xq25	benign\|likely benign
NM_001167.4(XIAP):c.*482G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000379891]	ChrX:123907663 [GRCh38] ChrX:123041513 [GRCh37] ChrX:Xq25	benign\|likely benign
NM_001167.4(XIAP):c.*5892T>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000381680]	ChrX:123913073 [GRCh38] ChrX:123046923 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*2674A>C	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000382896]	ChrX:123909855 [GRCh38] ChrX:123043705 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*5796C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000329387]	ChrX:123912977 [GRCh38] ChrX:123046827 [GRCh37] ChrX:Xq25	benign\|likely benign
NM_001167.4(XIAP):c.*5519del	deletion	Lymphoproliferative disorder [RCV001731653]	ChrX:123912687 [GRCh38] ChrX:123046537 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*4884C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000331982]	ChrX:123912065 [GRCh38] ChrX:123045915 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*12A>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000383369]\|not specified [RCV000454390]	ChrX:123907193 [GRCh38] ChrX:123041043 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.933G>A (p.Lys311=)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000332493]	ChrX:123888674 [GRCh38] ChrX:123022524 [GRCh37] ChrX:Xq25	likely benign
NM_001167.4(XIAP):c.*6220C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000379583]	ChrX:123913401 [GRCh38] ChrX:123047251 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*5070del	deletion	Lymphoproliferative disorder [RCV001731648]	ChrX:123912240 [GRCh38] ChrX:123046090 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*6549C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000335379]	ChrX:123913730 [GRCh38] ChrX:123047580 [GRCh37] ChrX:Xq25	benign\|likely benign
NM_001167.4(XIAP):c.962C>G (p.Ala321Gly)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000386940]\|not specified [RCV002248634]	ChrX:123888703 [GRCh38] ChrX:123022553 [GRCh37] ChrX:Xq25	benign\|likely benign
NM_001167.4(XIAP):c.*5506T>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000387369]	ChrX:123912687 [GRCh38] ChrX:123046537 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*4889T>C	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000388815]	ChrX:123912070 [GRCh38] ChrX:123045920 [GRCh37] ChrX:Xq25	benign\|likely benign
NM_001167.4(XIAP):c.5034_5035insAAA	insertion	Lymphoproliferative disorder [RCV001731645]	ChrX:123912214..123912215 [GRCh38] ChrX:123046064..123046065 [GRCh37] ChrX:Xq25	likely benign
NM_001167.4(XIAP):c.*3001T>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000337662]	ChrX:123910182 [GRCh38] ChrX:123044032 [GRCh37] ChrX:Xq25	likely benign\|uncertain significance
NM_001167.4(XIAP):c.*1298G>C	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000337445]	ChrX:123908479 [GRCh38] ChrX:123042329 [GRCh37] ChrX:Xq25	benign\|likely benign
NM_001167.4(XIAP):c.*1393G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000392975]	ChrX:123908574 [GRCh38] ChrX:123042424 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*5368C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000259830]	ChrX:123912549 [GRCh38] ChrX:123046399 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*803G>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000340851]	ChrX:123907984 [GRCh38] ChrX:123041834 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*6251C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000341187]	ChrX:123913432 [GRCh38] ChrX:123047282 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*6564CTGA[2]	microsatellite	Lymphoproliferative disorder [RCV001731654]	ChrX:123913745..123913748 [GRCh38] ChrX:123047595..123047598 [GRCh37] ChrX:Xq25	likely benign
NM_001167.4(XIAP):c.*3205T>C	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000336323]	ChrX:123910386 [GRCh38] ChrX:123044236 [GRCh37] ChrX:Xq25	likely benign\|uncertain significance
NM_001167.4(XIAP):c.*3573G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000296639]	ChrX:123910754 [GRCh38] ChrX:123044604 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*1676T>C	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000297598]	ChrX:123908857 [GRCh38] ChrX:123042707 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*253C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000344007]	ChrX:123907434 [GRCh38] ChrX:123041284 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*3383T>C	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000398701]	ChrX:123910564 [GRCh38] ChrX:123044414 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*6357G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000400471]	ChrX:123913538 [GRCh38] ChrX:123047388 [GRCh37] ChrX:Xq25	benign\|likely benign
NM_001167.4(XIAP):c.*3642T>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000399785]	ChrX:123910823 [GRCh38] ChrX:123044673 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*5047del	deletion	Lymphoproliferative disorder [RCV001731647]	ChrX:123912217 [GRCh38] ChrX:123046067 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*4309dup	duplication	Lymphoproliferative disorder [RCV001731643]	ChrX:123911477..123911478 [GRCh38] ChrX:123045327..123045328 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*5241A>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000299858]	ChrX:123912422 [GRCh38] ChrX:123046272 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*1175ATTA[1]	microsatellite	Lymphoproliferative disorder [RCV001731640]	ChrX:123908355..123908358 [GRCh38] ChrX:123042205..123042208 [GRCh37] ChrX:Xq25	likely benign
NM_001167.4(XIAP):c.*6422T>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000301491]	ChrX:123913603 [GRCh38] ChrX:123047453 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*5047dup	duplication	Lymphoproliferative disorder [RCV001731646]	ChrX:123912216..123912217 [GRCh38] ChrX:123046066..123046067 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*3997A>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000407895]	ChrX:123911178 [GRCh38] ChrX:123045028 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*6216G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000341343]	ChrX:123913397 [GRCh38] ChrX:123047247 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*5069A>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000389948]	ChrX:123912250 [GRCh38] ChrX:123046100 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*4078C>A	single nucleotide variant	Autoinflammatory syndrome [RCV002261083]\|X-linked lymphoproliferative disease due to XIAP deficiency [RCV000268272]	ChrX:123911259 [GRCh38] ChrX:123045109 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.844G>A (p.Glu282Lys)	single nucleotide variant	Autoinflammatory syndrome [RCV002262924]\|X-linked lymphoproliferative disease due to XIAP deficiency [RCV000640869]\|X-linked lymphoproliferative disease due to XIAP deficiency [RCV000764858]\|not provided [RCV000407303]	ChrX:123886506 [GRCh38] ChrX:123020356 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.1045GAG[1] (p.Glu350del)	microsatellite	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000490405]	ChrX:123891305..123891307 [GRCh38] ChrX:123025155..123025157 [GRCh37] ChrX:Xq25	likely pathogenic\|benign\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 Xq25(chrX:122805421-124676455)x3	copy number gain	See cases [RCV000599069]	ChrX:122805421..124676455 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.108del (p.Pro37fs)	deletion	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000696547]\|not provided [RCV000599327]	ChrX:123885767 [GRCh38] ChrX:123019617 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.73G>C (p.Glu25Gln)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000640876]	ChrX:123885735 [GRCh38] ChrX:123019585 [GRCh37] ChrX:Xq25	likely benign
NM_001167.4(XIAP):c.566T>C (p.Leu189Pro)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000766125]	ChrX:123886228 [GRCh38] ChrX:123020078 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.184C>T (p.Arg62Trp)	single nucleotide variant	Inborn genetic diseases [RCV002536518]\|not provided [RCV000734390]	ChrX:123885846 [GRCh38] ChrX:123019696 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.878-5C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000546574]\|not provided [RCV001528270]	ChrX:123888614 [GRCh38] ChrX:123022464 [GRCh37] ChrX:Xq25	benign\|likely benign
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 Xq21.33-28(chrX:94043221-155246585)x1	copy number loss	See cases [RCV000449365]	ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3	copy number gain	See cases [RCV000449437]	ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 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 Xq13.3-28(chrX:74787886-155233731)x1	copy number loss	See cases [RCV000447490]	ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28	pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3	copy number gain	See cases [RCV000446151]	ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	See cases [RCV000446932]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3	copy number gain	See cases [RCV000446310]	ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3	copy number gain	See cases [RCV000447253]	ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3	copy number gain	See cases [RCV000446318]	ChrX:95498487..129063677 [GRCh37] ChrX:Xq21.33-26.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1	copy number loss	See cases [RCV000445891]	ChrX:105694656..155224707 [GRCh37] ChrX:Xq22.3-28	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 Xq13.2-27.1(chrX:72224362-139262228)x4	copy number gain	See cases [RCV000448394]	ChrX:72224362..139262228 [GRCh37] ChrX:Xq13.2-27.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1	copy number loss	See cases [RCV000448870]	ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq25(chrX:122838263-123455393)x2	copy number gain	See cases [RCV000448240]	ChrX:122838263..123455393 [GRCh37] ChrX:Xq25	likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	copy number loss	See cases [RCV000510382]	ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	copy number gain	See cases [RCV000511787]	ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	copy number loss	See cases [RCV000511413]	ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28	pathogenic\|uncertain significance
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1	copy number loss	See cases [RCV000511572]	ChrX:112474054..155233731 [GRCh37] ChrX:Xq23-28	pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1	copy number loss	See cases [RCV000511936]	ChrX:116621104..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1	copy number loss	See cases [RCV000511482]	ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1	copy number loss	See cases [RCV000511490]	ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28	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
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1	copy number loss	See cases [RCV000510820]	ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	copy number gain	See cases [RCV000510826]	ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
NM_001167.4(XIAP):c.769C>G (p.Pro257Ala)	single nucleotide variant	Autoinflammatory syndrome [RCV002263772]\|X-linked lymphoproliferative disease due to XIAP deficiency [RCV001002216]\|not provided [RCV001706666]	ChrX:123886431 [GRCh38] ChrX:123020281 [GRCh37] ChrX:Xq25	benign\|likely benign\|uncertain significance
NM_001167.4(XIAP):c.664C>T (p.Arg222Ter)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000640871]	ChrX:123886326 [GRCh38] ChrX:123020176 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.1141C>T (p.Arg381Ter)	single nucleotide variant	Recurrent infections [RCV000626775]\|X-linked lymphoproliferative disease due to XIAP deficiency [RCV000990940]\|not provided [RCV000788724]	ChrX:123900534 [GRCh38] ChrX:123034384 [GRCh37] ChrX:Xq25	pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3	copy number gain	See cases [RCV000512365]	ChrX:96499476..151870013 [GRCh37] ChrX:Xq21.33-28	uncertain significance
NM_001167.4(XIAP):c.651del (p.Trp217fs)	deletion	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000515801]	ChrX:123886312 [GRCh38] ChrX:123020162 [GRCh37] ChrX:Xq25	pathogenic
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1	copy number loss	See cases [RCV000512372]	ChrX:98495811..155233731 [GRCh37] ChrX:Xq22.1-28	pathogenic
NM_001167.4(XIAP):c.389_392del (p.Asp130fs)	deletion	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000640870]	ChrX:123886049..123886052 [GRCh38] ChrX:123019899..123019902 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.435G>T (p.Gln145His)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000640872]	ChrX:123886097 [GRCh38] ChrX:123019947 [GRCh37] ChrX:Xq25	likely benign\|uncertain significance
NM_001167.4(XIAP):c.276T>C (p.Phe92=)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000640873]	ChrX:123885938 [GRCh38] ChrX:123019788 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.688G>A (p.Val230Ile)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000640874]	ChrX:123886350 [GRCh38] ChrX:123020200 [GRCh37] ChrX:Xq25	likely benign
NM_001167.4(XIAP):c.455C>G (p.Thr152Ser)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000640875]	ChrX:123886117 [GRCh38] ChrX:123019967 [GRCh37] ChrX:Xq25	benign
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	copy number gain	See cases [RCV000512173]	ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	copy number loss	not provided [RCV000684373]	ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28	pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	copy number loss	not provided [RCV000684357]	ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28	pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	copy number loss	not provided [RCV000684363]	ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28	pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3	copy number gain	not provided [RCV000684377]	ChrX:117998704..140159954 [GRCh37] ChrX:Xq24-27.1	pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1	copy number loss	not provided [RCV000684380]	ChrX:120777368..139345946 [GRCh37] ChrX:Xq24-27.1	pathogenic
GRCh37/hg19 Xq25(chrX:122252098-123083702)x2	copy number gain	not provided [RCV000684382]	ChrX:122252098..123083702 [GRCh37] ChrX:Xq25	uncertain significance
GRCh37/hg19 Xq25(chrX:122663227-123390103)x2	copy number gain	not provided [RCV000684383]	ChrX:122663227..123390103 [GRCh37] ChrX:Xq25	likely pathogenic
NC_000023.11:g.(?_123891218)_(123892793_?)del	deletion	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000708097]	ChrX:123891218..123892793 [GRCh38] ChrX:123025068..123026643 [GRCh37] ChrX:Xq25	pathogenic
NC_000023.11:g.(?_123885637)_(123892793_?)del	deletion	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000708487]	ChrX:123885637..123892793 [GRCh38] ChrX:123019487..123026643 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.683T>G (p.Phe228Cys)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000692526]	ChrX:123886345 [GRCh38] ChrX:123020195 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.712C>T (p.Arg238Ter)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000688620]	ChrX:123886374 [GRCh38] ChrX:123020224 [GRCh37] ChrX:Xq25	pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	copy number loss	not provided [RCV000846274]	ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 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 Xq22.3-28(chrX:104098124-155233731)x1	copy number loss	not provided [RCV000846958]	ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28	pathogenic
NM_001167.4(XIAP):c.581T>A (p.Ile194Asn)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001543683]	ChrX:123886243 [GRCh38] ChrX:123020093 [GRCh37] ChrX:Xq25	uncertain significance
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1	copy number loss	not provided [RCV000753606]	ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1	copy number loss	not provided [RCV000753271]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
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 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1	copy number loss	not provided [RCV000753556]	ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1	copy number loss	Premature ovarian insufficiency [RCV000852349]	ChrX:122757437..155208244 [GRCh37] ChrX:Xq25-28	likely pathogenic
NC_000023.10:g.36649710_136649711del100000002insG	indel	Heterotaxy, visceral, 1, X-linked [RCV000754886]	ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3	pathogenic
NM_001167.4(XIAP):c.599G>T (p.Cys200Phe)	single nucleotide variant	not provided [RCV000762667]	ChrX:123886261 [GRCh38] ChrX:123020111 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.609dup (p.Gly204fs)	duplication	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000990939]	ChrX:123886270..123886271 [GRCh38] ChrX:123020120..123020121 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.1458del (p.Val487fs)	deletion	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000990941]	ChrX:123907145 [GRCh38] ChrX:123040995 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.1237G>A (p.Asp413Asn)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001166045]	ChrX:123900630 [GRCh38] ChrX:123034480 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*3408G>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001166580]	ChrX:123910589 [GRCh38] ChrX:123044439 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.978G>A (p.Gly326=)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000975355]	ChrX:123891238 [GRCh38] ChrX:123025088 [GRCh37] ChrX:Xq25	likely benign
NM_001167.4(XIAP):c.1058T>C (p.Val353Ala)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001041162]	ChrX:123892732 [GRCh38] ChrX:123026582 [GRCh37] ChrX:Xq25	uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	copy number loss	not provided [RCV001007318]	ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
NM_001167.4(XIAP):c.844G>C (p.Glu282Gln)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001061497]	ChrX:123886506 [GRCh38] ChrX:123020356 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.416A>G (p.Tyr139Cys)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001071272]	ChrX:123886078 [GRCh38] ChrX:123019928 [GRCh37] ChrX:Xq25	uncertain significance
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2	copy number gain	not provided [RCV001007336]	ChrX:117119895..129850963 [GRCh37] ChrX:Xq24-26.1	pathogenic
NM_001167.4(XIAP):c.1327C>T (p.Arg443Cys)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001057399]	ChrX:123907014 [GRCh38] ChrX:123040864 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.667C>T (p.His223Tyr)	single nucleotide variant	not provided [RCV000996011]	ChrX:123886329 [GRCh38] ChrX:123020179 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.737C>T (p.Ser246Phe)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV002549926]\|not provided [RCV000996012]	ChrX:123886399 [GRCh38] ChrX:123020249 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.337G>C (p.Gly113Arg)	single nucleotide variant	not provided [RCV000788592]	ChrX:123885999 [GRCh38] ChrX:123019849 [GRCh37] ChrX:Xq25	uncertain significance
GRCh37/hg19 Xq25(chrX:122970459-123034511)	copy number loss	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000767807]	ChrX:122970459..123034511 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.115G>T (p.Gly39Cys)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000918693]	ChrX:123885777 [GRCh38] ChrX:123019627 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.1408A>T (p.Thr470Ser)	single nucleotide variant	Autoinflammatory syndrome [RCV002264113]\|X-linked lymphoproliferative disease due to XIAP deficiency [RCV000966504]	ChrX:123907095 [GRCh38] ChrX:123040945 [GRCh37] ChrX:Xq25	benign\|uncertain significance
NM_001167.4(XIAP):c.978-10_978-4del	deletion	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000823316]	ChrX:123891226..123891232 [GRCh38] ChrX:123025076..123025082 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.499T>C (p.Leu167=)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001514262]	ChrX:123886161 [GRCh38] ChrX:123020011 [GRCh37] ChrX:Xq25	benign
GRCh37/hg19 Xq25(chrX:122503175-123124783)x2	copy number gain	See cases [RCV000790611]	ChrX:122503175..123124783 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.978-9A>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000792489]	ChrX:123891229 [GRCh38] ChrX:123025079 [GRCh37] ChrX:Xq25	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
NM_001167.4(XIAP):c.*866A>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001167615]	ChrX:123908047 [GRCh38] ChrX:123041897 [GRCh37] ChrX:Xq25	uncertain significance
NC_000023.11:g.(?_123885637)_(123907201_?)del	deletion	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001031864]	ChrX:123019487..123041051 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.*1705A>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001168257]	ChrX:123908886 [GRCh38] ChrX:123042736 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*1904G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001168259]	ChrX:123909085 [GRCh38] ChrX:123042935 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*3572A>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001166583]	ChrX:123910753 [GRCh38] ChrX:123044603 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*5331G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001166648]	ChrX:123912512 [GRCh38] ChrX:123046362 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*5010A>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001166160]	ChrX:123912191 [GRCh38] ChrX:123046041 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*5140C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001166161]	ChrX:123912321 [GRCh38] ChrX:123046171 [GRCh37] ChrX:Xq25	benign
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	copy number loss	not provided [RCV001007322]	ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
NM_001167.4(XIAP):c.*6009C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001168390]	ChrX:123913190 [GRCh38] ChrX:123047040 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*5505G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001166649]	ChrX:123912686 [GRCh38] ChrX:123046536 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.183G>T (p.Val61=)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001408751]	ChrX:123885845 [GRCh38] ChrX:123019695 [GRCh37] ChrX:Xq25	likely benign
NM_001167.4(XIAP):c.955C>T (p.Gln319Ter)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV000793923]	ChrX:123888696 [GRCh38] ChrX:123022546 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.562G>A (p.Gly188Arg)	single nucleotide variant	See cases [RCV003156136]\|X-linked lymphoproliferative disease due to XIAP deficiency [RCV000822305]	ChrX:123886224 [GRCh38] ChrX:123020074 [GRCh37] ChrX:Xq25	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001167.4(XIAP):c.1317G>C (p.Glu439Asp)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001166046]	ChrX:123907004 [GRCh38] ChrX:123040854 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*4691G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001166159]	ChrX:123911872 [GRCh38] ChrX:123045722 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*1869G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001168258]	ChrX:123909050 [GRCh38] ChrX:123042900 [GRCh37] ChrX:Xq25	uncertain significance
GRCh37/hg19 Xq25(chrX:122787912-123370417)x3	copy number gain	not provided [RCV000849432]	ChrX:122787912..123370417 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.1154G>A (p.Ser385Asn)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001065750]	ChrX:123900547 [GRCh38] ChrX:123034397 [GRCh37] ChrX:Xq25	uncertain significance
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	copy number loss	not provided [RCV000845672]	ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28	pathogenic
NC_000023.11:g.(?_123885637)_(123886559_?)dup	duplication	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001031619]	ChrX:123019487..123020409 [GRCh37] ChrX:Xq25	uncertain significance
NC_000023.11:g.(?_123885637)_(123888738_?)del	deletion	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001031680]	ChrX:123019487..123022588 [GRCh37] ChrX:Xq25	pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	copy number loss	not provided [RCV000847838]	ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
NM_001167.4(XIAP):c.225_226insA (p.Gly76fs)	insertion	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001205736]	ChrX:123885887..123885888 [GRCh38] ChrX:123019737..123019738 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.227G>C (p.Gly76Ala)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001210190]	ChrX:123885889 [GRCh38] ChrX:123019739 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.446dup (p.Ser150fs)	duplication	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001230875]	ChrX:123886107..123886108 [GRCh38] ChrX:123019957..123019958 [GRCh37] ChrX:Xq25	pathogenic
GRCh37/hg19 Xq25(chrX:122989834-123009885)x2	copy number gain	not provided [RCV000846221]	ChrX:122989834..123009885 [GRCh37] ChrX:Xq25	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	copy number loss	not provided [RCV000849097]	ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28	pathogenic
NM_001167.4(XIAP):c.-10_977+11del	deletion	Lymphoproliferative syndrome 2 [RCV001250232]	ChrX:123885648..123888724 [GRCh38] ChrX:123019498..123022574 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.*3547C>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001166582]	ChrX:123910728 [GRCh38] ChrX:123044578 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*5870G>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001166650]	ChrX:123913051 [GRCh38] ChrX:123046901 [GRCh37] ChrX:Xq25	benign
NC_000023.10:g.(?_123019513)_(123041031_?)dup	duplication	X-linked lymphoproliferative disease due to XIAP deficiency [RCV003105609]	ChrX:123019513..123041031 [GRCh37] ChrX:Xq25	uncertain significance
NC_000023.10:g.(?_122318388)_(123505241_?)dup	duplication	not provided [RCV003105349]	ChrX:122318388..123505241 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.977+286T>C	single nucleotide variant	not provided [RCV001714784]	ChrX:123889004 [GRCh38] ChrX:123022854 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.1100-116A>G	single nucleotide variant	not provided [RCV001534628]	ChrX:123900377 [GRCh38] ChrX:123034227 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.1057-7G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001516793]	ChrX:123892724 [GRCh38] ChrX:123026574 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.1020C>G (p.Asn340Lys)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001244326]	ChrX:123891280 [GRCh38] ChrX:123025130 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.214_217dup (p.Trp73Ter)	microsatellite	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001065914]	ChrX:123885870..123885871 [GRCh38] ChrX:123019720..123019721 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.*3589A>C	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001166584]	ChrX:123910770 [GRCh38] ChrX:123044620 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.1179G>A (p.Met393Ile)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001238332]	ChrX:123900572 [GRCh38] ChrX:123034422 [GRCh37] ChrX:Xq25	uncertain significance
NM_001204401.2(XIAP):c.-43C>T	single nucleotide variant	not provided [RCV001688283]	ChrX:123859895 [GRCh38] ChrX:122993745 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*6010G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001168391]	ChrX:123913191 [GRCh38] ChrX:123047041 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*2488C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001169003]	ChrX:123909669 [GRCh38] ChrX:123043519 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*4658C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001169068]	ChrX:123911839 [GRCh38] ChrX:123045689 [GRCh37] ChrX:Xq25	benign
NC_000023.11:g.(?_123885637)_(123907201_?)dup	duplication	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001031048]	ChrX:123019487..123041051 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.632A>G (p.Glu211Gly)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001067266]	ChrX:123886294 [GRCh38] ChrX:123020144 [GRCh37] ChrX:Xq25	uncertain significance
NC_000023.11:g.(?_123888599)_(123888738_?)dup	duplication	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001033770]	ChrX:123022449..123022588 [GRCh37] ChrX:Xq25	likely pathogenic
NM_001167.4(XIAP):c.197G>A (p.Cys66Tyr)	single nucleotide variant	not provided [RCV001532709]	ChrX:123885859 [GRCh38] ChrX:123019709 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.819G>A (p.Gly273=)	single nucleotide variant	not provided [RCV001532710]	ChrX:123886481 [GRCh38] ChrX:123020331 [GRCh37] ChrX:Xq25	likely benign
NM_001167.4(XIAP):c.492del (p.Ala165fs)	deletion	not provided [RCV001171644]	ChrX:123886153 [GRCh38] ChrX:123020003 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.840C>G (p.Asn280Lys)	single nucleotide variant	Inborn genetic diseases [RCV003283875]\|X-linked lymphoproliferative disease due to XIAP deficiency [RCV001036332]	ChrX:123886502 [GRCh38] ChrX:123020352 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.271A>G (p.Arg91Gly)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001206134]	ChrX:123885933 [GRCh38] ChrX:123019783 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.1108A>G (p.Ile370Val)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001234606]	ChrX:123900501 [GRCh38] ChrX:123034351 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*93T>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001167614]	ChrX:123907274 [GRCh38] ChrX:123041124 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.421_422del (p.Leu141fs)	deletion	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001060859]	ChrX:123886081..123886082 [GRCh38] ChrX:123019931..123019932 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.*1481C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001168256]	ChrX:123908662 [GRCh38] ChrX:123042512 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*3673C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001168328]	ChrX:123910854 [GRCh38] ChrX:123044704 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*3845A>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001168329]	ChrX:123911026 [GRCh38] ChrX:123044876 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.919C>A (p.Leu307Ile)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001058014]	ChrX:123888660 [GRCh38] ChrX:123022510 [GRCh37] ChrX:Xq25	uncertain significance
GRCh37/hg19 Xq25(chrX:122900419-123323986)x2	copy number gain	not provided [RCV001007338]	ChrX:122900419..123323986 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.*4336T>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001169067]	ChrX:123911517 [GRCh38] ChrX:123045367 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*6256T>C	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001169143]	ChrX:123913437 [GRCh38] ChrX:123047287 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.977+3A>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001214389]	ChrX:123888721 [GRCh38] ChrX:123022571 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.1048G>A (p.Glu350Lys)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001054201]	ChrX:123891308 [GRCh38] ChrX:123025158 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.482A>G (p.Tyr161Cys)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001058343]	ChrX:123886144 [GRCh38] ChrX:123019994 [GRCh37] ChrX:Xq25	uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	copy number loss	Intellectual disability [RCV001249592]	ChrX:122132166..155097214 [GRCh37] ChrX:Xq25-28	likely pathogenic
NM_001167.4(XIAP):c.272G>A (p.Arg91Lys)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001219664]	ChrX:123885934 [GRCh38] ChrX:123019784 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.838A>C (p.Asn280His)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001049959]	ChrX:123886500 [GRCh38] ChrX:123020350 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*5986G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001168389]	ChrX:123913167 [GRCh38] ChrX:123047017 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.-142G>C	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001168939]	ChrX:123860184 [GRCh38] ChrX:122994034 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*1950C>T	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001169002]	ChrX:123909131 [GRCh38] ChrX:123042981 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*4149A>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001169066]	ChrX:123911330 [GRCh38] ChrX:123045180 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*6566G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001169144]	ChrX:123913747 [GRCh38] ChrX:123047597 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.*3544G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001166581]	ChrX:123910725 [GRCh38] ChrX:123044575 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.*2944C>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001253922]	ChrX:123910125 [GRCh38] ChrX:123043975 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.595C>T (p.Gln199Ter)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001257230]	ChrX:123886257 [GRCh38] ChrX:123020107 [GRCh37] ChrX:Xq25	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
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	copy number loss	not provided [RCV001259005]	ChrX:77514079..127770854 [GRCh37] ChrX:Xq21.1-25	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	copy number gain	See cases [RCV001263024]	ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq25(chrX:122338834-123471785)x2	copy number gain	not provided [RCV001259497]	ChrX:122338834..123471785 [GRCh37] ChrX:Xq25	pathogenic
GRCh37/hg19 Xq25(chrX:122896328-123069720)x3	copy number gain	not provided [RCV001259498]	ChrX:122896328..123069720 [GRCh37] ChrX:Xq25	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	copy number loss	not provided [RCV001259012]	ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28	pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3	copy number gain	not provided [RCV001259495]	ChrX:117120780..129850994 [GRCh37] ChrX:Xq24-26.1	pathogenic
NM_001167.4(XIAP):c.1454A>G (p.Tyr485Cys)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001307511]	ChrX:123907141 [GRCh38] ChrX:123040991 [GRCh37] ChrX:Xq25	uncertain significance
NC_000023.10:g.(?_123019487)_(123020409_?)dup	duplication	Lymphoproliferative syndrome 2, X-linked [RCV001319218]	ChrX:123019487..123020409 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.1457_1458del (p.Thr486fs)	microsatellite	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001319322]	ChrX:123907141..123907142 [GRCh38] ChrX:123040991..123040992 [GRCh37] ChrX:Xq25	uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	copy number gain	not provided [RCV001281359]	ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
NM_001167.4(XIAP):c.320A>G (p.Asn107Ser)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001342388]	ChrX:123885982 [GRCh38] ChrX:123019832 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.1071G>A (p.Glu357=)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001414713]	ChrX:123892745 [GRCh38] ChrX:123026595 [GRCh37] ChrX:Xq25	likely benign
NM_001167.4(XIAP):c.1202G>A (p.Gly401Glu)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001307187]	ChrX:123900595 [GRCh38] ChrX:123034445 [GRCh37] ChrX:Xq25	uncertain significance
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_001167.4(XIAP):c.606T>C (p.Cys202=)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001415019]	ChrX:123886268 [GRCh38] ChrX:123020118 [GRCh37] ChrX:Xq25	likely benign
NM_001167.4(XIAP):c.713G>A (p.Arg238Gln)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001343806]	ChrX:123886375 [GRCh38] ChrX:123020225 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.376C>G (p.His126Asp)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001322629]	ChrX:123886038 [GRCh38] ChrX:123019888 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.359A>G (p.Tyr120Cys)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001314724]	ChrX:123886021 [GRCh38] ChrX:123019871 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.776A>G (p.Asn259Ser)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001338253]	ChrX:123886438 [GRCh38] ChrX:123020288 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.1023T>A (p.Asn341Lys)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001330428]	ChrX:123891283 [GRCh38] ChrX:123025133 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.894_898del (p.Lys299fs)	microsatellite	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001859341]\|not provided [RCV001507544]	ChrX:123888629..123888633 [GRCh38] ChrX:123022479..123022483 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.1194G>T (p.Gln398His)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001514035]	ChrX:123900587 [GRCh38] ChrX:123034437 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.1053T>C (p.Cys351=)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001399417]	ChrX:123891313 [GRCh38] ChrX:123025163 [GRCh37] ChrX:Xq25	likely benign
NM_001167.4(XIAP):c.1416A>G (p.Lys472=)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001516326]	ChrX:123907103 [GRCh38] ChrX:123040953 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.1099+2T>C	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001377125]	ChrX:123892775 [GRCh38] ChrX:123026625 [GRCh37] ChrX:Xq25	likely pathogenic
NM_001167.4(XIAP):c.60del (p.Glu21fs)	deletion	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001386202]	ChrX:123885721 [GRCh38] ChrX:123019571 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.1323A>G (p.Leu441=)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001407578]	ChrX:123907010 [GRCh38] ChrX:123040860 [GRCh37] ChrX:Xq25	likely benign
NM_001167.4(XIAP):c.1191T>G (p.Ile397Met)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001408664]	ChrX:123900584 [GRCh38] ChrX:123034434 [GRCh37] ChrX:Xq25	likely benign
NM_001167.4(XIAP):c.978-2A>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001385733]	ChrX:123891236 [GRCh38] ChrX:123025086 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.1196T>G (p.Ile399Arg)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001514960]	ChrX:123900589 [GRCh38] ChrX:123034439 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.878-5C>G	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001516385]	ChrX:123888614 [GRCh38] ChrX:123022464 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.23G>A (p.Gly8Glu)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001512709]	ChrX:123885685 [GRCh38] ChrX:123019535 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.146G>A (p.Arg49Gln)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001509716]	ChrX:123885808 [GRCh38] ChrX:123019658 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.308C>T (p.Thr103Met)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001510246]	ChrX:123885970 [GRCh38] ChrX:123019820 [GRCh37] ChrX:Xq25	benign
NM_001167.4(XIAP):c.1149G>A (p.Gly383=)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001476148]	ChrX:123900542 [GRCh38] ChrX:123034392 [GRCh37] ChrX:Xq25	likely benign
NM_001167.4(XIAP):c.1101T>C (p.Asp367=)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001478860]	ChrX:123900494 [GRCh38] ChrX:123034344 [GRCh37] ChrX:Xq25	likely benign
NM_001167.4(XIAP):c.878-4G>A	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001436369]	ChrX:123888615 [GRCh38] ChrX:123022465 [GRCh37] ChrX:Xq25	likely benign
NM_001167.4(XIAP):c.870T>C (p.Tyr290=)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001476627]	ChrX:123886532 [GRCh38] ChrX:123020382 [GRCh37] ChrX:Xq25	likely benign
NM_001167.4(XIAP):c.1012dup (p.Tyr338fs)	duplication	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001383799]	ChrX:123891271..123891272 [GRCh38] ChrX:123025121..123025122 [GRCh37] ChrX:Xq25	pathogenic
NM_001167.4(XIAP):c.1075A>G (p.Thr359Ala)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001511833]	ChrX:123892749 [GRCh38] ChrX:123026599 [GRCh37] ChrX:Xq25	benign\|conflicting interpretations of pathogenicity
NC_000023.10:g.(?_123010866)_123025086del	deletion	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001380547]		pathogenic
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	copy number loss	See cases [RCV002285075]	ChrX:77670699..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
NM_001167.4(XIAP):c.203C>T (p.Ala68Val)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV002032872]\|not provided [RCV001760757]	ChrX:123885865 [GRCh38] ChrX:123019715 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.238_253del (p.Val80fs)	deletion	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001784040]	ChrX:123885899..123885914 [GRCh38] ChrX:123019749..123019764 [GRCh37] ChrX:Xq25	likely pathogenic
NM_001167.4(XIAP):c.1262G>A (p.Ser421Asn)	single nucleotide variant	not provided [RCV001769298]	ChrX:123900655 [GRCh38] ChrX:123034505 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.299dup (p.Asn100fs)	duplication	not provided [RCV001816554]	ChrX:123885957..123885958 [GRCh38] ChrX:123019807..123019808 [GRCh37] ChrX:Xq25	likely pathogenic
NM_001167.4(XIAP):c.459A>G (p.Ile153Met)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001929747]	ChrX:123886121 [GRCh38] ChrX:123019971 [GRCh37] ChrX:Xq25	uncertain significance
GRCh37/hg19 Xq25(chrX:122797142-123194399)x3	copy number gain	not provided [RCV001834421]	ChrX:122797142..123194399 [GRCh37] ChrX:Xq25	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_001167.4(XIAP):c.802C>T (p.Arg268Trp)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001984263]	ChrX:123886464 [GRCh38] ChrX:123020314 [GRCh37] ChrX:Xq25	uncertain significance
NC_000023.10:g.(?_123019513)_(123020409_?)dup	duplication	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001928028]	ChrX:123019513..123020409 [GRCh37] ChrX:Xq25	uncertain significance
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 Xq24-25(chrX:119173583-126584360)x2	copy number gain	not provided [RCV001829257]	ChrX:119173583..126584360 [GRCh37] ChrX:Xq24-25	pathogenic
NM_001167.4(XIAP):c.1317_1318delinsAT (p.Gln440Ter)	indel	X-linked lymphoproliferative disease due to XIAP deficiency [RCV002006209]	ChrX:123907004..123907005 [GRCh38] ChrX:123040854..123040855 [GRCh37] ChrX:Xq25	likely pathogenic
NM_001167.4(XIAP):c.887A>G (p.Asp296Gly)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001952185]	ChrX:123888628 [GRCh38] ChrX:123022478 [GRCh37] ChrX:Xq25	uncertain significance
NC_000023.10:g.(?_122318388)_(123505241_?)del	deletion	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001963016]\|not provided [RCV003107920]	ChrX:122318388..123505241 [GRCh37] ChrX:Xq25	pathogenic\|uncertain significance
NM_001167.4(XIAP):c.778C>T (p.Pro260Ser)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001961730]	ChrX:123886440 [GRCh38] ChrX:123020290 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.609TGG[1] (p.Gly205del)	microsatellite	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001976823]	ChrX:123886270..123886272 [GRCh38] ChrX:123020120..123020122 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.300T>C (p.Asn100=)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [RCV002049480]	ChrX:123885962 [GRCh38] ChrX:123019812 [GRCh37] ChrX:Xq25	likely benign\|uncertain significance
NM_001167.4(XIAP):c.1386del (p.Phe462fs)	deletion	X-linked lymphoproliferative disease due to XIAP deficiency [RCV001995669]	ChrX:123907069 [GRCh38] ChrX:123040919 [GRCh37] ChrX:Xq25	uncertain significance
NM_001167.4(XIAP):c.181G>A (p.Val61Met)	single nucleotide variant	X-linked lymphoproliferative disease due to XIAP deficiency [

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