XIAP (X-linked inhibitor of apoptosis) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
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 negative regulation of cysteine-type endopeptidase activity; nucleotide-binding activity domain, leucine rich repeat containing receptor signaling pathway; 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
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Related Pseudogenes: XIAPP2   XIAPP3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X123,859,708 - 123,913,972 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX123,859,712 - 123,913,972 (+)EnsemblGRCh38hg38GRCh38
GRCh37X122,993,558 - 123,047,822 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X122,821,729 - 122,875,503 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X122,719,582 - 122,773,357NCBI
CeleraX123,378,893 - 123,432,624 (+)NCBICelera
Cytogenetic MapXq25NCBI
HuRefX112,377,835 - 112,430,903 (+)NCBIHuRef
CHM1_1X122,904,824 - 122,959,188 (+)NCBICHM1_1
T2T-CHM13v2.0X122,170,108 - 122,224,373 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


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)
1-monopalmitoylglycerol  (EXP)
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,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP,ISO)
atrazine  (EXP)
baicalein  (ISO)
BAPTA  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
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,ISO)
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,ISO)
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 phosphate  (EXP)
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,ISO)
gentamycin  (ISO)
gingerol  (EXP)
glutathione  (EXP,ISO)
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-nitrosodiethylamine  (ISO)
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)
pifithrin-?  (EXP)
pirinixic acid  (ISO)
potassium cyanide  (ISO)
propiconazole  (ISO)
puerarin  (ISO)
pyrethrins  (EXP)
quercetin  (EXP)
rac-1-monopalmitoylglycerol  (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,ISO)
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)
thiram  (EXP)
thymoquinone  (EXP)
titanium dioxide  (ISO)
topotecan  (EXP,ISO)
Tributyltin oxide  (ISO)
trichostatin A  (EXP)
Triptolide  (EXP,ISO)
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)
inhibition of cysteine-type endopeptidase activity  (IDA)
inhibition of cysteine-type endopeptidase activity involved in apoptotic process  (ISO)
negative regulation of apoptotic process  (IBA,IDA,IEA,IMP,ISO)
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  (IDA,ISO)
negative regulation of neuron apoptotic process  (ISO)
negative regulation of peptidase activity  (IEA)
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 domain, leucine rich repeat containing receptor signaling pathway  (TAS)
response to lipopolysaccharide  (IEA)
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)

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)
Arthritis  (IAGP)
Autism  (IAGP)
Burkitt lymphoma  (IAGP)
Childhood onset  (IAGP)
Cholangitis  (IAGP)
Colitis  (IAGP)
Crohn's disease  (IAGP)
Cutaneous abscess  (IAGP)
Decreased circulating antibody concentration  (IAGP)
Decreased circulating IgG concentration  (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)
Jejunoileal ulceration  (IAGP)
Lymphadenopathy  (IAGP)
Lymphocytosis  (IAGP)
Lymphoma  (IAGP)
Lymphoproliferative disorder  (IAGP)
Meningitis  (IAGP)
Nephritis  (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)
Reduced natural killer cell count  (IAGP)
Renal insufficiency  (IAGP)
Sepsis  (IAGP)
Severe Epstein Barr virus infection  (IAGP)
Splenic hemophagocytosis  (IAGP)
Splenomegaly  (IAGP)
Thrombocytopenia  (IAGP)
Uveitis  (IAGP)
Vasculitis  (IAGP)
X-linked inheritance  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. New targets of urocortin-mediated cardioprotection. Barry SP, etal., J Mol Endocrinol. 2010 Aug;45(2):69-85. doi: 10.1677/JME-09-0148. Epub 2010 May 25.
2. 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.
3. 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.
4. 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.
5. 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.
6. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
7. 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.
8. 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.
9. 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.
10. 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.
11. 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.
12. 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.
13. Overexpression of XIAP expression in renal cell carcinoma predicts a worse prognosis. Mizutani Y, etal., Int J Oncol. 2007 Apr;30(4):919-25.
14. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
15. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
16. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
17. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
18. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
19. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
20. 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.
21. 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.
22. 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  
PMID:16932741   PMID:16964381   PMID:16972754   PMID:16983704   PMID:17008917   PMID:17016456   PMID:17035597   PMID:17050666   PMID:17069460   PMID:17080092   PMID:17094439   PMID:17144666  
PMID:17179183   PMID:17287399   PMID:17291493   PMID:17318174   PMID:17331366   PMID:17332680   PMID:17339366   PMID:17350081   PMID:17382285   PMID:17437405   PMID:17440816   PMID:17450518  
PMID:17471152   PMID:17534699   PMID:17579071   PMID:17603079   PMID:17611394   PMID:17613533   PMID:17626072   PMID:17630106   PMID:17698078   PMID:17721914   PMID:17724022   PMID:17906618  
PMID:17936246   PMID:17951200   PMID:17967870   PMID:17993464   PMID:18022123   PMID:18022362   PMID:18024305   PMID:18041764   PMID:18049476   PMID:18068114   PMID:18068526   PMID:18071906  
PMID:18187663   PMID:18251743   PMID:18309651   PMID:18414036   PMID:18415656   PMID:18432259   PMID:18438971   PMID:18467439   PMID:18520160   PMID:18521960   PMID:18560353   PMID:18566024  
PMID:18570872   PMID:18590777   PMID:18645029   PMID:18647593   PMID:18666224   PMID:18703998   PMID:18704457   PMID:18723680   PMID:18755525   PMID:18761086   PMID:18767116   PMID:18795889  
PMID:18807090   PMID:18820704   PMID:18829553   PMID:18831009   PMID:18851976   PMID:18854154   PMID:18931663   PMID:19001278   PMID:19011619   PMID:19012568   PMID:19153467   PMID:19171073  
PMID:19176394   PMID:19223549   PMID:19273858   PMID:19288545   PMID:19289587   PMID:19322201   PMID:19355825   PMID:19369629   PMID:19393243   PMID:19397802   PMID:19398375   PMID:19411066  
PMID:19473982   PMID:19506082   PMID:19506533   PMID:19531477   PMID:19549727   PMID:19562673   PMID:19584092   PMID:19615732   PMID:19649722   PMID:19654940   PMID:19667203   PMID:19670614  
PMID:19698783   PMID:19723899   PMID:19726736   PMID:19738422   PMID:19763917   PMID:19782107   PMID:19787196   PMID:19815541   PMID:19854829   PMID:19859091   PMID:19875445   PMID:19877056  
PMID:19885569   PMID:19897582   PMID:19913121   PMID:19946707   PMID:19949310   PMID:20067634   PMID:20154138   PMID:20171186   PMID:20213810   PMID:20301580   PMID:20381828   PMID:20395960  
PMID:20406824   PMID:20406946   PMID:20431038   PMID:20484174   PMID:20489057   PMID:20515940   PMID:20517649   PMID:20582956   PMID:20625944   PMID:20628086   PMID:20632385   PMID:20670888  
PMID:20676365   PMID:20677802   PMID:20682709   PMID:20712893   PMID:20819778   PMID:20856198   PMID:20862799   PMID:20888210   PMID:20932476   PMID:20938744   PMID:20957035   PMID:20959405  
PMID:20979872   PMID:20980180   PMID:21102524   PMID:21113135   PMID:21119115   PMID:21185211   PMID:21317880   PMID:21325798   PMID:21354220   PMID:21364655   PMID:21367892   PMID:21387310  
PMID:21402697   PMID:21442307   PMID:21447281   PMID:21518480   PMID:21535957   PMID:21536684   PMID:21543760   PMID:21628460   PMID:21653699   PMID:21674762   PMID:21695558   PMID:21712378  
PMID:21849505   PMID:21869827   PMID:21873635   PMID:21903422   PMID:21908615   PMID:21931591   PMID:21935275   PMID:22039248   PMID:22072751   PMID:22083305   PMID:22103349   PMID:22117219  
PMID:22173242   PMID:22185822   PMID:22194841   PMID:22273571   PMID:22304967   PMID:22320973   PMID:22333553   PMID:22343716   PMID:22366087   PMID:22393046   PMID:22403616   PMID:22427670  
PMID:22459568   PMID:22465666   PMID:22493164   PMID:22508683   PMID:22532870   PMID:22584050   PMID:22607974   PMID:22653317   PMID:22653319   PMID:22683311   PMID:22696161   PMID:22711539  
PMID:22733138   PMID:22776562   PMID:22797576   PMID:22811387   PMID:22815893   PMID:22825849   PMID:22867709   PMID:22886722   PMID:22896709   PMID:22934750   PMID:22939629   PMID:23074197  
PMID:23156805   PMID:23166698   PMID:23190606   PMID:23201124   PMID:23222509   PMID:23223428   PMID:23251006   PMID:23259674   PMID:23306356   PMID:23323858   PMID:23354694   PMID:23397285  
PMID:23418891   PMID:23492187   PMID:23553333   PMID:23640046   PMID:23669290   PMID:23720779   PMID:23742934   PMID:23749209   PMID:23817665   PMID:23818254   PMID:23828693   PMID:23891189  
PMID:23900601   PMID:23955808   PMID:23973892   PMID:23979166   PMID:23999295   PMID:24038028   PMID:24043286   PMID:24083782   PMID:24093940   PMID:24104479   PMID:24124924   PMID:24145606  
PMID:24188482   PMID:24194568   PMID:24247248   PMID:24305822   PMID:24344018   PMID:24371121   PMID:24422988   PMID:24425875   PMID:24446252   PMID:24552816   PMID:24572142   PMID:24603802  
PMID:24623724   PMID:24661516   PMID:24698088   PMID:24733578   PMID:24799195   PMID:24802394   PMID:24841289   PMID:24853184   PMID:24942515   PMID:24947323   PMID:24975362   PMID:25003840  
PMID:25005847   PMID:25074812   PMID:25079909   PMID:25080938   PMID:25151142   PMID:25216527   PMID:25241761   PMID:25246529   PMID:25260751   PMID:25273171   PMID:25292199   PMID:25293521  
PMID:25301945   PMID:25324306   PMID:25359904   PMID:25389989   PMID:25394481   PMID:25416956   PMID:25436288   PMID:25501831   PMID:25501832   PMID:25502805   PMID:25513960   PMID:25549803  
PMID:25578648   PMID:25619915   PMID:25666262   PMID:25669656   PMID:25691055   PMID:25707849   PMID:25744037   PMID:25754235   PMID:25776486   PMID:25801017   PMID:25801170   PMID:25824780  
PMID:25888903   PMID:25910212   PMID:25943627   PMID:25974735   PMID:26071313   PMID:26132135   PMID:26134559   PMID:26172506   PMID:26182687   PMID:26186194   PMID:26279033   PMID:26313705  
PMID:26314849   PMID:26404623   PMID:26496610   PMID:26507126   PMID:26521691   PMID:26638075   PMID:26676658   PMID:26707189   PMID:26716649   PMID:26733262   PMID:26779627   PMID:26821068  
PMID:27025967   PMID:27048285   PMID:27048361   PMID:27070757   PMID:27072230   PMID:27107012   PMID:27107014   PMID:27173435   PMID:27188727   PMID:27210546   PMID:27259577   PMID:27317434  
PMID:27416006   PMID:27447744   PMID:27476169   PMID:27498621   PMID:27569044   PMID:27607580   PMID:27697095   PMID:27841661   PMID:27865841   PMID:27875524   PMID:27927753   PMID:28039474  
PMID:28040451   PMID:28057023   PMID:28065597   PMID:28186968   PMID:28204942   PMID:28224479   PMID:28302793   PMID:28319085   PMID:28324269   PMID:28404814   PMID:28414080   PMID:28514442  
PMID:28611215   PMID:28642151   PMID:28656888   PMID:28661476   PMID:28666324   PMID:28667026   PMID:28691642   PMID:28718761   PMID:28721806   PMID:28772220   PMID:28786561   PMID:28851536  
PMID:28893228   PMID:28952057   PMID:28976632   PMID:29020630   PMID:29037837   PMID:29048653   PMID:29053960   PMID:29115633   PMID:29124675   PMID:29170254   PMID:29236891   PMID:29250796  
PMID:29255093   PMID:29351901   PMID:29452636   PMID:29501442   PMID:29530788   PMID:29556337   PMID:29631059   PMID:29678905   PMID:29892012   PMID:29955050   PMID:29997244   PMID:30014630  
PMID:30026309   PMID:30066913   PMID:30249882   PMID:30275562   PMID:30395908   PMID:30421089   PMID:30446907   PMID:30522111   PMID:30528232   PMID:30659120   PMID:30671387   PMID:30688097  
PMID:30706710   PMID:30778852   PMID:30819044   PMID:30819803   PMID:30948266   PMID:31004702   PMID:31011505   PMID:31018043   PMID:31036715   PMID:31064412   PMID:31228514   PMID:31240993  
PMID:31243344   PMID:31260151   PMID:31266830   PMID:31350258   PMID:31467278   PMID:31470122   PMID:31493422   PMID:31515488   PMID:31519766   PMID:31539130   PMID:31617661   PMID:31699976  
PMID:31732153   PMID:31744505   PMID:31753913   PMID:31842909   PMID:31843992   PMID:32015347   PMID:32019552   PMID:32020226   PMID:32050753   PMID:32296183   PMID:32301277   PMID:32373947  
PMID:32447208   PMID:32485270   PMID:32513696   PMID:32540394   PMID:32553630   PMID:32707033   PMID:32788347   PMID:32797709   PMID:32814053   PMID:32877691   PMID:32916597   PMID:32954645  
PMID:32994395   PMID:33097010   PMID:33130818   PMID:33138314   PMID:33277362   PMID:33328332   PMID:33417871   PMID:33460440   PMID:33629639   PMID:33631302   PMID:33903093   PMID:33916271  
PMID:33941563   PMID:33961781   PMID:34079125   PMID:34247143   PMID:34315543   PMID:34546853   PMID:34597346   PMID:34739338   PMID:34739342   PMID:34842329   PMID:34857952   PMID:34981461  
PMID:35000057   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35437868   PMID:35439318   PMID:35501389   PMID:35563538   PMID:35580525   PMID:35794827   PMID:35831314   PMID:35941108  
PMID:35944360   PMID:36155776   PMID:36215168   PMID:36243803   PMID:36270981   PMID:36346305   PMID:36394357   PMID:36572190   PMID:36578953   PMID:36647737   PMID:36675207   PMID:36749823  
PMID:36931259   PMID:37268744   PMID:37451424   PMID:37594275   PMID:37774976   PMID:38191507   PMID:38467314   PMID:38803224  


Genomics

Comparative Map Data
XIAP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X123,859,708 - 123,913,972 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX123,859,712 - 123,913,972 (+)EnsemblGRCh38hg38GRCh38
GRCh37X122,993,558 - 123,047,822 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X122,821,729 - 122,875,503 (+)NCBINCBI36Build 36hg18NCBI36
Build 34X122,719,582 - 122,773,357NCBI
CeleraX123,378,893 - 123,432,624 (+)NCBICelera
Cytogenetic MapXq25NCBI
HuRefX112,377,835 - 112,430,903 (+)NCBIHuRef
CHM1_1X122,904,824 - 122,959,188 (+)NCBICHM1_1
T2T-CHM13v2.0X122,170,108 - 122,224,373 (+)NCBIT2T-CHM13v2.0
Xiap
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X41,148,483 - 41,198,541 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX41,148,556 - 41,198,533 (+)EnsemblGRCm39 Ensembl
GRCm38X42,059,613 - 42,109,664 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX42,059,679 - 42,109,656 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X39,421,013 - 39,462,841 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X38,338,355 - 38,350,128 (+)NCBIMGSCv36mm8
CeleraX29,643,660 - 29,685,399 (+)NCBICelera
Cytogenetic MapXA4NCBI
cM MapX23.19NCBI
Xiap
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X125,756,107 - 125,803,979 (+)NCBIGRCr8
mRatBN7.2X120,890,537 - 120,938,413 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX120,897,907 - 120,934,700 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX123,009,934 - 123,046,397 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X126,531,344 - 126,567,796 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X124,125,427 - 124,161,835 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X128,409,425 - 128,455,786 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX128,409,472 - 128,453,000 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X128,500,115 - 128,546,515 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X3,011,520 - 3,047,798 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X3,013,139 - 3,049,418 (-)NCBI
CeleraX120,012,721 - 120,049,014 (+)NCBICelera
Cytogenetic MapXq35NCBI
Xiap
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547310,827,435 - 10,840,604 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547310,823,795 - 10,878,256 (-)NCBIChiLan1.0ChiLan1.0
XIAP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X123,332,452 - 123,385,525 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X123,336,052 - 123,389,136 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X113,052,164 - 113,105,160 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X123,232,643 - 123,284,912 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX123,232,643 - 123,278,606 (+)Ensemblpanpan1.1panPan2
XIAP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X95,300,234 - 95,356,103 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX95,331,827 - 95,351,582 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX81,399,414 - 81,419,171 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X97,072,115 - 97,127,995 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX97,072,142 - 97,127,986 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X94,548,275 - 94,568,035 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X96,304,355 - 96,324,070 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X96,093,813 - 96,113,573 (+)NCBIUU_Cfam_GSD_1.0
Xiap
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X94,265,438 - 94,309,960 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364796,677,526 - 6,722,116 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364796,677,533 - 6,724,800 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
XIAP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX101,399,812 - 101,440,013 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X101,399,374 - 101,440,021 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X116,234,274 - 116,253,044 (+)NCBISscrofa10.2Sscrofa10.2susScr3
XIAP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366606536,593,463 - 36,643,836 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in XIAP
296 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]|not provided [RCV004696170] 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]|XIAP-related disorder [RCV003967566]|not provided [RCV003325468] ChrX:123891305..123891307 [GRCh38]
ChrX:123025155..123025157 [GRCh37]
ChrX:Xq25		 likely pathogenic|benign|likely 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]|XIAP-related disorder [RCV003942798]|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 Inborn genetic diseases [RCV004025613]|X-linked lymphoproliferative disease due to XIAP deficiency [RCV000640874] ChrX:123886350 [GRCh38]
ChrX:123020200 [GRCh37]
ChrX:Xq25		 likely benign|uncertain significance
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|conflicting interpretations of pathogenicity|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]|not provided [RCV003480873] 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]|XIAP-related disorder [RCV003942906] ChrX:123892724 [GRCh38]
ChrX:123026574 [GRCh37]
ChrX:Xq25		 benign|likely 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 X-linked lymphoproliferative disease due to XIAP deficiency [RCV003624457]|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]|not provided [RCV004693539] 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]|not provided [RCV004692598] 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]|XIAP-related disorder [RCV003956174] ChrX:123907103 [GRCh38]
ChrX:123040953 [GRCh37]
ChrX:Xq25		 benign|likely 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]|XIAP-related disorder [RCV003966096] ChrX:123888614 [GRCh38]
ChrX:123022464 [GRCh37]
ChrX:Xq25		 benign|likely 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]|not provided [RCV003438847] ChrX:123885970 [GRCh38]
ChrX:123019820 [GRCh37]
ChrX:Xq25		 benign|likely 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