FOXP3 (forkhead box P3) - Rat Genome Database

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Gene: FOXP3 (forkhead box P3) Homo sapiens
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Symbol: FOXP3
Name: forkhead box P3
RGD ID: 1348507
HGNC Page HGNC:6106
Description: Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; NFAT protein binding activity; and enzyme binding activity. Involved in several processes, including CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation; regulation of T cell activation; and regulation of gene expression. Located in cytosol and nucleoplasm. Is active in nucleus. Implicated in Human papillomavirus infectious disease; colorectal cancer; immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome; pulmonary tuberculosis; and type 1 diabetes mellitus. Biomarker of several diseases, including Epstein-Barr virus infectious disease (multiple); adult T-cell leukemia/lymphoma; anogenital venereal wart; liver disease (multiple); and tuberculosis (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AIID; DIETER; forkhead box protein P3; FOXP3delta7; immune dysregulation, polyendocrinopathy, enteropathy, X-linked; immunodeficiency, polyendocrinopathy, enteropathy, X-linked; IPEX; JM2; MGC141961; MGC141963; PIDX; scurfin; XPID
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X49,250,438 - 49,264,710 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX49,250,438 - 49,264,800 (-)EnsemblGRCh38hg38GRCh38
GRCh37X49,106,899 - 49,121,172 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,994,354 - 49,008,232 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X48,863,780 - 48,877,659NCBI
CeleraX52,543,105 - 52,557,472 (+)NCBICelera
Cytogenetic MapXp11.23NCBI
HuRefX46,763,332 - 46,777,541 (-)NCBIHuRef
CHM1_1X49,139,199 - 49,153,588 (-)NCBICHM1_1
T2T-CHM13v2.0X48,662,300 - 48,676,549 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Acute-On-Chronic Liver Failure  (IEP)
adult T-cell leukemia/lymphoma  (EXP,IEP)
Airway Remodeling  (ISO)
allergic disease  (EXP)
anemia  (IAGP)
Animal Toxoplasmosis  (ISO)
anogenital venereal wart  (IEP)
asthma  (EXP,ISO)
autistic disorder  (IAGP)
bacterial pneumonia  (ISO)
bone marrow disease  (IAGP)
Breast Neoplasms  (EXP)
bronchiolitis obliterans  (ISO)
cervical squamous cell carcinoma  (IEP)
chlamydia  (IEP)
Chronic Hepatitis B  (IEP)
Chronic Hepatitis C  (IEP)
colorectal cancer  (IDA)
congenital disorder of glycosylation type IIm  (IAGP)
cutaneous leishmaniasis  (IEP)
dermatitis  (ISO)
diabetes mellitus  (IAGP)
Dysbiosis  (ISO)
endometriosis  (IEP)
Endotoxemia  (ISO)
Epstein-Barr virus infectious disease  (IEP)
Experimental Arthritis  (ISO)
Experimental Autoimmune Myocarditis  (ISO)
Experimental Autoimmune Neuritis  (ISO)
Experimental Colitis  (ISO)
Experimental Diabetes Mellitus  (ISO)
genetic disease  (IAGP)
graft-versus-host disease  (ISO)
hepatitis B  (IEP)
hepatitis C  (IEP)
hepatocellular carcinoma  (IEP)
Hydranencephaly with Renal Aplasia-Dysplasia  (IAGP)
Hydrops Fetalis  (IAGP)
hypertension  (ISO)
hypothyroidism  (ISO)
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  (EXP,IAGP,ISS)
infectious mononucleosis  (IEP)
intrahepatic cholangiocarcinoma  (ISO)
Korean hemorrhagic fever  (ISO)
Lung Injury  (EXP)
Lung Neoplasms  (EXP)
malaria  (IEP)
multidrug-resistant tuberculosis  (IEP)
Neuralgia  (ISO)
neurodegeneration with brain iron accumulation 5  (IAGP)
Neurodevelopmental Disorders  (IAGP)
occupational dermatitis  (EXP)
pancytopenia  (IAGP)
papillomavirus infectious disease  (IAGP)
pleural tuberculosis  (IEP)
polycystic ovary syndrome  (EXP)
primary biliary cholangitis  (IEP)
pulmonary tuberculosis  (IAGP)
Recurrent Respiratory Papillomatosis  (IAGP)
rheumatoid arthritis  (EXP)
Sepsis  (IEP)
spermatogenic failure 3  (IAGP)
Spinal Cord Injuries  (ISO)
Squamous Intraepithelial Lesions of the Cervix  (IAGP)
syndromic X-linked intellectual disability Lubs type  (IAGP)
syphilis  (IEP)
Thrombocytopenia 1  (IAGP)
Transplant Rejection  (IEP,ISO)
tropical spastic paraparesis  (IEP)
type 1 diabetes mellitus  (IAGP)
vaccinia  (ISO)
Wiskott-Aldrich syndrome  (IAGP,ISS)
Wound Infection  (ISO)
X-linked epilepsy with variable learning disabilities and behavior disorders  (IAGP)
X-linked severe congenital neutropenia  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(+)-Tetrandrine  (ISO)
(S)-nicotine  (ISO)
1-Hydroxypyrene  (EXP)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-palmitoylglycerol  (EXP)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP,ISO)
5-azacytidine  (ISO)
aflatoxin B1  (EXP)
alloxan  (ISO)
alpha-naphthoflavone  (ISO)
alpha-Zearalanol  (ISO)
amiodarone  (EXP)
amphetamine  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP,ISO)
benzalkonium chloride  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
calcitriol  (EXP)
carbon monoxide  (EXP)
carbon nanotube  (ISO)
chloroquine  (EXP)
chlorpyrifos  (ISO)
chrysin  (ISO)
cisplatin  (ISO)
cyclophosphamide  (ISO)
deoxynivalenol  (EXP)
dextran sulfate  (ISO)
diallyl trisulfide  (ISO)
diarsenic trioxide  (EXP,ISO)
diazinon  (ISO)
dorsomorphin  (EXP)
fingolimod hydrochloride  (EXP)
fragrance  (EXP)
fulvestrant  (EXP)
fumonisin B1  (EXP)
gentamycin  (ISO)
hydralazine  (ISO)
hydroxysafflor yellow A  (ISO)
iron dichloride  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP,ISO)
leflunomide  (ISO)
levamisole  (ISO)
lipopolysaccharide  (ISO)
methimazole  (ISO)
mevalonic acid  (ISO)
N-acetyl-L-cysteine  (EXP)
nickel atom  (EXP)
nicotine  (ISO)
nitrogen dioxide  (EXP)
obeticholic acid  (EXP)
ozone  (EXP,ISO)
paracetamol  (ISO)
phenanthrene  (ISO)
phenytoin  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
platycodin D  (ISO)
procainamide  (ISO)
progesterone  (EXP,ISO)
quinacrine  (EXP)
resveratrol  (ISO)
rotenone  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
silicon dioxide  (EXP,ISO)
simvastatin  (EXP,ISO)
sirolimus  (EXP,ISO)
sodium arsenite  (EXP,ISO)
tamibarotene  (ISO)
tamoxifen  (EXP)
testosterone  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP,ISO)
Triptolide  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)
zidovudine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
alpha-beta T cell proliferation  (IEA,ISO)
B cell homeostasis  (IEA,ISO)
CD4-positive, alpha-beta T cell differentiation  (IEA,ISO)
CD4-positive, alpha-beta T cell proliferation  (IEA,ISO)
CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation  (IEA,IMP,ISO)
CD4-positive, CD25-positive, alpha-beta regulatory T cell lineage commitment  (TAS)
chromatin remodeling  (IEA,ISO,NAS)
DNA-templated transcription  (IEA,ISO)
establishment of endothelial blood-brain barrier  (IEA,ISO)
gene expression  (IEA,ISO)
immature T cell proliferation in thymus  (IEA,ISO)
inflammatory response  (IEA,ISO)
isotype switching to IgE isotypes  (IEA,ISO)
lymphocyte proliferation  (IEA,ISO)
myeloid cell homeostasis  (IEA,ISO)
negative regulation of activated T cell proliferation  (NAS)
negative regulation of alpha-beta T cell proliferation  (IEA,ISO)
negative regulation of CD4-positive, alpha-beta T cell proliferation  (IEA,ISO)
negative regulation of cell population proliferation  (IDA)
negative regulation of chronic inflammatory response  (IEA,ISO)
negative regulation of CREB transcription factor activity  (IDA)
negative regulation of cytokine production  (IDA)
negative regulation of defense response to virus  (IEA,ISO)
negative regulation of DNA-binding transcription factor activity  (IDA)
negative regulation of DNA-templated transcription  (IDA,IEA,IMP,ISO)
negative regulation of gene expression  (IEA,ISO)
negative regulation of immune response  (IDA)
negative regulation of inflammatory response  (IEA,ISO)
negative regulation of interleukin-10 production  (IDA,IEA,ISO)
negative regulation of interleukin-17 production  (IEA,IMP)
negative regulation of interleukin-2 production  (IDA,IEA,IMP,ISO)
negative regulation of interleukin-4 production  (IDA,IEA,ISO)
negative regulation of interleukin-5 production  (IEA,ISO)
negative regulation of interleukin-6 production  (IEA,ISO)
negative regulation of isotype switching to IgE isotypes  (IEA,ISO)
negative regulation of lymphocyte proliferation  (IEA,ISO)
negative regulation of NF-kappaB transcription factor activity  (IDA)
negative regulation of T cell cytokine production  (IDA,IMP)
negative regulation of T cell proliferation  (IDA,IEA,IMP,ISO)
negative regulation of T-helper 17 cell differentiation  (IMP)
negative regulation of transcription by RNA polymerase II  (IEA,ISO)
negative regulation of tumor necrosis factor production  (IEA,ISO)
negative regulation of type II interferon production  (IDA,IEA,IMP,ISO)
positive regulation of CD4-positive, alpha-beta T cell differentiation  (IEA,ISO)
positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation  (IEA,ISO,TAS)
positive regulation of DNA-templated transcription  (IDA,IEA,IMP,ISO,ISS)
positive regulation of gene expression  (IEA,ISO)
positive regulation of immature T cell proliferation in thymus  (IEA,ISO)
positive regulation of interleukin-4 production  (IEA,ISO)
positive regulation of peripheral T cell tolerance induction  (IEA,ISO)
positive regulation of regulatory T cell differentiation  (IDA,IEA,ISO)
positive regulation of T cell anergy  (IEA,ISO)
positive regulation of T cell tolerance induction  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IEA,IMP,ISO)
positive regulation of transforming growth factor beta1 production  (IEA,ISO)
regulation of DNA-templated transcription  (IEA,NAS)
regulation of immunoglobulin production  (IEA,ISO)
regulation of isotype switching to IgG isotypes  (IEA,ISO)
regulation of T cell anergy  (IEA,ISS)
regulation of transcription by RNA polymerase II  (IBA,IEA,ISO)
regulatory T cell differentiation  (IDA,IEA,ISO)
response to lipopolysaccharide  (IEA,ISO)
response to rapamycin  (IEA,ISO)
response to virus  (IEP)
T cell activation  (IDA,IEA,ISO)
T cell anergy  (IEA,ISO)
T cell homeostasis  (NAS)
T cell mediated immunity  (IEA,ISO)
T cell proliferation  (IEA,ISO)
T cell receptor signaling pathway  (IEA,ISO)
T cell tolerance induction  (IEA,ISO)
tolerance induction  (IEA,ISO)
tolerance induction to self antigen  (IEA,ISO)
transcription by RNA polymerase II  (IEA,ISO)
transforming growth factor beta1 production  (IEA,ISO)

Cellular Component
chromatin  (ISA)
cytoplasm  (IDA,IEA,NAS)
cytosol  (IDA)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IDA,IEA,NAS)
protein-containing complex  (NAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal blistering of the skin  (IAGP)
Abnormal blood ion concentration  (IAGP)
Abnormal intestine morphology  (IAGP)
Abnormality of the endocrine system  (IAGP)
Allergy  (IAGP)
Alopecia  (IAGP)
Anemia  (IAGP)
Anti-glutamic acid decarboxylase antibody positivity  (IAGP)
Anti-liver cytosolic antigen type 1 antibody positivity  (IAGP)
Anti-thyroid peroxidase antibody positivity  (IAGP)
Arthritis  (IAGP)
Autism  (IAGP)
Autoimmune hemolytic anemia  (IAGP)
Autoimmune thrombocytopenia  (IAGP)
Autoimmunity  (IAGP)
Bone marrow hypocellularity  (IAGP)
Cachexia  (IAGP)
Chronic diarrhea  (IAGP)
Colitis  (IAGP)
Coombs-positive hemolytic anemia  (IAGP)
Crusting erythematous dermatitis  (IAGP)
Decreased circulating prealbumin concentration  (IAGP)
Decreased FOXP3-expressing T cell count  (IAGP)
Dependency on intravenous nutrition  (IAGP)
Eczematoid dermatitis  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Eosinophilia  (IAGP)
Erythroderma  (IAGP)
Failure to thrive  (IAGP)
Failure to thrive in infancy  (IAGP)
Food allergy  (IAGP)
Gastritis  (IAGP)
Global developmental delay  (IAGP)
Glomerulonephritis  (IAGP)
Hepatitis  (IAGP)
Hydrops fetalis  (IAGP)
Hyperthyroidism  (IAGP)
Hypoalbuminemia  (IAGP)
Hypocalcemia  (IAGP)
Hypomagnesemia  (IAGP)
Hypothyroidism  (IAGP)
Ileus  (IAGP)
Immune dysregulation  (IAGP)
Increased circulating IgE concentration  (IAGP)
Infantile onset  (IAGP)
Inflammatory abnormality of the skin  (IAGP)
Insulin receptor antibody positivity  (IAGP)
Interstitial pneumonitis  (IAGP)
Iron deficiency anemia  (IAGP)
Lymphadenopathy  (IAGP)
Malabsorption  (IAGP)
Membranous nephropathy  (IAGP)
Meningitis  (IAGP)
Myositis  (IAGP)
Nail dystrophy  (IAGP)
Nasogastric tube feeding  (IAGP)
Nephrotic syndrome  (IAGP)
Neutropenia  (IAGP)
Neutropenia in presence of anti-neutropil antibodies  (IAGP)
Non-obstructive azoospermia  (IAGP)
Osteomyelitis  (IAGP)
Pancytopenia  (IAGP)
Pneumonia  (IAGP)
Psoriasiform dermatitis  (IAGP)
Recurrent gastroenteritis  (IAGP)
Recurrent infections  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent skin infections  (IAGP)
Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells  (IAGP)
Respiratory distress  (IAGP)
Secretory diarrhea  (IAGP)
Seizure  (IAGP)
Sepsis  (IAGP)
Severe infection  (IAGP)
Splenomegaly  (IAGP)
Thrombocytopenia  (IAGP)
Thyroiditis  (IAGP)
Tubulointerstitial nephritis  (IAGP)
Type I diabetes mellitus  (IAGP)
Urticaria  (IAGP)
Ventriculomegaly  (IAGP)
Villous atrophy  (IAGP)
Vomiting  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Spironolactone decreases DOCA-salt-induced organ damage by blocking the activation of T helper 17 and the downregulation of regulatory T lymphocytes. Amador CA, etal., Hypertension. 2014 Apr;63(4):797-803. doi: 10.1161/HYPERTENSIONAHA.113.02883. Epub 2014 Jan 13.
2. Novel biomarkers for the detection of wound infection by wound fluid RT-PCR in rats. Asada M, etal., Exp Dermatol. 2012 Feb;21(2):118-22. doi: 10.1111/j.1600-0625.2011.01404.x. Epub 2011 Dec 6.
3. G allele at -924 A > G position of FoxP3 gene promoter as a risk factor for tuberculosis. Beiranvand E, etal., BMC Infect Dis. 2017 Oct 11;17(1):673. doi: 10.1186/s12879-017-2762-5.
4. FOXP3 immunoregulatory gene variants are independent predictors of human papillomavirus infection and cervical cancer precursor lesions. Cezar-Dos-Santos F, etal., J Cancer Res Clin Oncol. 2019 Aug;145(8):2013-2025. doi: 10.1007/s00432-019-02951-x. Epub 2019 Jun 8.
5. Expression of the T regulatory cell transcription factor FoxP3 in peri-implantation phase endometrium in infertile women with endometriosis. Chen S, etal., Reprod Biol Endocrinol. 2012 Apr 27;10:34. doi: 10.1186/1477-7827-10-34.
6. Co-transplantation of Xenogeneic Bone Marrow-derived Mesenchymal Stem Cells Alleviates Rejection of Pancreatic Islets in Non-obese Diabetic Mice. Corradi-Perini C, etal., Transplant Proc. 2017 May;49(4):902-905. doi: 10.1016/j.transproceed.2017.01.064.
7. Intrahepatic detection of FOXP3 gene expression after liver transplantation using minimally invasive aspiration biopsy. Demirkiran A, etal., Transplantation. 2007 Mar 27;83(6):819-23. doi: 10.1097/01.tp.0000258597.97468.88.
8. Regulatory T cell activity is partly inhibited in a mouse model of chronic Pseudomonas aeruginosa lung infection. Ding FM, etal., Exp Lung Res. 2015 Feb;41(1):44-55. doi: 10.3109/01902148.2014.964351. Epub 2014 Nov 14.
9. Regulatory T cells enhance persistence of the zoonotic pathogen Seoul virus in its reservoir host. Easterbrook JD, etal., Proc Natl Acad Sci U S A. 2007 Sep 25;104(39):15502-7. Epub 2007 Sep 18.
10. G protein-coupled receptor kinase 6 controls chronicity and severity of dextran sodium sulphate-induced colitis in mice. Eijkelkamp N, etal., Gut. 2007 Jun;56(6):847-54. doi: 10.1136/gut.2006.107094. Epub 2007 Jan 17.
11. Homeostatic regulation of T effector to Treg ratios in an area of seasonal malaria transmission. Finney OC, etal., Eur J Immunol. 2009 May;39(5):1288-300. doi: 10.1002/eji.200839112.
12. Skin inflammation arising from cutaneous regulatory T cell deficiency leads to impaired viral immune responses. Freyschmidt EJ, etal., J Immunol. 2010 Jul 15;185(2):1295-302. doi: 10.4049/jimmunol.0903144. Epub 2010 Jun 14.
13. Evaluation of T Regulatory Lymphocytes Transcription Factors in HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP) Patients. Ghezeldasht SA, etal., Appl Biochem Biotechnol. 2017 Aug;182(4):1403-1414. doi: 10.1007/s12010-017-2406-7. Epub 2017 Jan 18.
14. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
15. Zhenbao Pill reduces Treg cell proportion in acute spinal cord injury rats by regulating TUG1/miR-214/HSP27 axis. He Y, etal., Biosci Rep. 2018 Nov 7;38(6). pii: BSR20180895. doi: 10.1042/BSR20180895. Print 2018 Dec 21.
16. Therapeutic effects of acupuncture with MOK, a polyherbal medicine, on PTU-induced hypothyroidism in rats. Hwang JH, etal., Exp Ther Med. 2018 Jul;16(1):310-320. doi: 10.3892/etm.2018.6190. Epub 2018 May 18.
17. The effects of vasoactive intestinal peptide in the rat model of experimental autoimmune neuritis and the implications for treatment of acute inflammatory demyelinating polyradiculoneuropathy or Guillain-Barré syndrome. Jiao H and Ren H, Drug Des Devel Ther. 2018 Nov 6;12:3817-3824. doi: 10.2147/DDDT.S175331. eCollection 2018.
18. A model of chronic lung allograft rejection in the rat. Jungraithmayr W, etal., Eur Respir J. 2010 Jun;35(6):1354-63. Epub 2009 Oct 19.
19. The relationship of FOXP3 expression and clinicopathological characteristics in adult T-cell leukemia/lymphoma. Karube K, etal., Mod Pathol. 2008 May;21(5):617-25. doi: 10.1038/modpathol.2008.25. Epub 2008 Feb 8.
20. Associations of FoxP3 gene polymorphisms with severe recurrent respiratory papillomatosis in Korean patients. Kwon TK, etal., J Otolaryngol Head Neck Surg. 2017 Mar 15;46(1):21. doi: 10.1186/s40463-017-0197-z.
21. Alterations of T helper lymphocyte subpopulations in sepsis, severe sepsis, and septic shock: a prospective observational study. Li J, etal., Inflammation. 2015;38(3):995-1002. doi: 10.1007/s10753-014-0063-3.
22. Placenta‑derived mesenchymal stem cells improve airway hyperresponsiveness and inflammation in asthmatic rats by modulating the Th17/Treg balance. Li Y, etal., Mol Med Rep. 2017 Dec;16(6):8137-8145. doi: 10.3892/mmr.2017.7605. Epub 2017 Sep 25.
23. [Significance and effect of Glucosidorum Tripterygii tororum on expressions of Foxp3 in regulatory T cells in type 1 diabetic rat model]. Liang CL and Wang J, Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2008 Mar;24(3):270-3.
24. Changes in intestinal mucosal immune barrier in rats with endotoxemia. Liu C, etal., World J Gastroenterol. 2009 Dec 14;15(46):5843-50. doi: 10.3748/wjg.15.5843.
25. Anti-inflammatory effects of Lactobacillus brevis K65 on RAW 264.7 cells and in mice with dextran sulphate sodium-induced ulcerative colitis. Liu YW, etal., Benef Microbes. 2016 Jun;7(3):387-96. doi: 10.3920/BM2015.0109. Epub 2016 Mar 1.
26. Study of liver-targeted regulatory T cells in hepatitis B and C virus in chronically infected patients. Miyaaki H, etal., Liver Int. 2009 May;29(5):702-7. doi: 10.1111/j.1478-3231.2008.01842.x. Epub 2008 Jul 30.
27. Increased Th17 functions are accompanied by Tregs activities in lupoid leishmaniasis. Nabavi NS, etal., Parasite Immunol. 2018 Jan;40(1). doi: 10.1111/pim.12507. Epub 2017 Dec 17.
28. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
29. Adenovirus-mediated Foxp3 expression in lung epithelial cells reduces airway inflammation in ovalbumin and cockroach-induced asthma model. Park S, etal., Exp Mol Med. 2016 Sep 16;48(9):e259. doi: 10.1038/emm.2016.83.
30. The Influence of Metformin to the Transcriptional Activity of the mTOR and FOX3 Genes in Parapancreatic Adipose Tissue of Streptozotocin-Induced Diabetic Rats. Putilin DA, etal., J Med Life. 2020 Jan-Mar;13(1):50-55. doi: 10.25122/jml-2020-0029.
31. In vivo fluctuation of Tax, Foxp3, CTLA-4, and GITR mRNA expression in CD4(+)CD25(+) T cells of patients with human T-lymphotropic virus type 1-associated myelopathy. Ramirez E, etal., Braz J Med Biol Res. 2010 Nov;43(11):1109-15. doi: 10.1590/s0100-879x2010007500107. Epub 2010 Oct 8.
32. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
33. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
34. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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PMID:28296931   PMID:28317311   PMID:28337881   PMID:28351575   PMID:28396406   PMID:28470865   PMID:28473536   PMID:28487507   PMID:28508176   PMID:28508461   PMID:28514442   PMID:28533380  
PMID:28551657   PMID:28560891   PMID:28562349   PMID:28591725   PMID:28592128   PMID:28621227   PMID:28630656   PMID:28643491   PMID:28696819   PMID:28713192   PMID:28716029   PMID:28741409  
PMID:28741671   PMID:28743116   PMID:28831395   PMID:28882702   PMID:28903735   PMID:28910978   PMID:28923073   PMID:28935177   PMID:28960390   PMID:28982868   PMID:29030005   PMID:29051990  
PMID:29100058   PMID:29101067   PMID:29142309   PMID:29150659   PMID:29193502   PMID:29198133   PMID:29206055   PMID:29223407   PMID:29253537   PMID:29257349   PMID:29270752   PMID:29317916  
PMID:29343013   PMID:29405562   PMID:29411762   PMID:29476189   PMID:29482642   PMID:29524861   PMID:29526847   PMID:29574662   PMID:29602154   PMID:29618596   PMID:29620159   PMID:29661773  
PMID:29696715   PMID:29705245   PMID:29718856   PMID:29739077   PMID:29773655   PMID:29804142   PMID:29851536   PMID:29878369   PMID:29885993   PMID:29890310   PMID:29892012   PMID:29901207  
PMID:29907586   PMID:29932060   PMID:29938865   PMID:30003112   PMID:30011797   PMID:30013989   PMID:30013992   PMID:30027704   PMID:30040923   PMID:30054281   PMID:30057362   PMID:30077124  
PMID:30104243   PMID:30125971   PMID:30129110   PMID:30142808   PMID:30168273   PMID:30229436   PMID:30233595   PMID:30292536   PMID:30318155   PMID:30333832   PMID:30348891   PMID:30367023  
PMID:30378283   PMID:30385752   PMID:30389786   PMID:30391932   PMID:30425718   PMID:30429036   PMID:30453448   PMID:30455694   PMID:30484986   PMID:30510991   PMID:30513302   PMID:30569125  
PMID:30572845   PMID:30593749   PMID:30613389   PMID:30614205   PMID:30630091   PMID:30680650   PMID:30709738   PMID:30710380   PMID:30733194   PMID:30782783   PMID:30830965   PMID:30861202  
PMID:30864147   PMID:30875252   PMID:30904437   PMID:30907193   PMID:30917315   PMID:30953385   PMID:30954385   PMID:30999388   PMID:31006654   PMID:31024549   PMID:31138426   PMID:31164680  
PMID:31364113   PMID:31379809   PMID:31384057   PMID:31386175   PMID:31414141   PMID:31422415   PMID:31515488   PMID:31567981   PMID:31570431   PMID:31608056   PMID:31630080   PMID:31639448  
PMID:31681337   PMID:31778687   PMID:31852159   PMID:31855573   PMID:31891895   PMID:31904151   PMID:31917889   PMID:31983096   PMID:31984437   PMID:31987907   PMID:32152765   PMID:32198183  
PMID:32203210   PMID:32233171   PMID:32234907   PMID:32245315   PMID:32259202   PMID:32283322   PMID:32296183   PMID:32300119   PMID:32312420   PMID:32323598   PMID:32385519   PMID:32386462  
PMID:32401107   PMID:32409671   PMID:32413182   PMID:32475613   PMID:32499641   PMID:32513132   PMID:32522204   PMID:32532834   PMID:32534707   PMID:32534760   PMID:32535334   PMID:32580398  
PMID:32594290   PMID:32606302   PMID:32612577   PMID:32634048   PMID:32636834   PMID:32644293   PMID:32652320   PMID:32670274   PMID:32744468   PMID:32776743   PMID:32808399   PMID:32818885  
PMID:32827684   PMID:32839941   PMID:32878426   PMID:32988630   PMID:33031221   PMID:33127257   PMID:33170805   PMID:33181260   PMID:33209884   PMID:33213373   PMID:33228011   PMID:33274240  
PMID:33274669   PMID:33360026   PMID:33431692   PMID:33433406   PMID:33438816   PMID:33444682   PMID:33488578   PMID:33488615   PMID:33494935   PMID:33506937   PMID:33507149   PMID:33517519  
PMID:33527553   PMID:33529458   PMID:33589523   PMID:33627780   PMID:33641299   PMID:33686190   PMID:33686666   PMID:33723215   PMID:33759370   PMID:33760137   PMID:33833438   PMID:33858251  
PMID:33864956   PMID:33880574   PMID:33882185   PMID:33884734   PMID:33961781   PMID:33972684   PMID:34006632   PMID:34015108   PMID:34019767   PMID:34080184   PMID:34160358   PMID:34166564  
PMID:34185454   PMID:34216291   PMID:34257746   PMID:34274475   PMID:34297100   PMID:34324509   PMID:34343636   PMID:34348163   PMID:34362334   PMID:34414959   PMID:34463908   PMID:34470917  
PMID:34477071   PMID:34480930   PMID:34539008   PMID:34541823   PMID:34575956   PMID:34593639   PMID:34605709   PMID:34616011   PMID:34670484   PMID:34737751   PMID:34748560   PMID:34759371  
PMID:34768829   PMID:34812598   PMID:35020557   PMID:35026283   PMID:35032011   PMID:35037550   PMID:35065924   PMID:35109826   PMID:35222362   PMID:35247545   PMID:35271496   PMID:35322929  
PMID:35358193   PMID:35366780   PMID:35401877   PMID:35441756   PMID:35452532   PMID:35479070   PMID:35580072   PMID:35689826   PMID:35732605   PMID:35767890   PMID:35772656   PMID:35905575  
PMID:35909944   PMID:35967422   PMID:36032083   PMID:36091011   PMID:36152823   PMID:36165427   PMID:36273134   PMID:36305192   PMID:36464704   PMID:36469034   PMID:36528259   PMID:36550816  
PMID:36564065   PMID:36567345   PMID:36567801   PMID:36600150   PMID:36602220   PMID:36691128   PMID:36717877   PMID:36788428   PMID:36799186   PMID:36842371   PMID:36974470   PMID:37085947  
PMID:37169554   PMID:37197667   PMID:37224732   PMID:37277792   PMID:37356924   PMID:37418986   PMID:37506144   PMID:37563607   PMID:37569676   PMID:37573372   PMID:37605532   PMID:37782178  
PMID:37838026   PMID:37852297   PMID:37868998   PMID:37904681   PMID:37936281   PMID:37994657   PMID:38117899   PMID:38147957   PMID:38201281   PMID:38244519   PMID:38308298   PMID:38311556  
PMID:38402536   PMID:38415552   PMID:38433312   PMID:38512803   PMID:38536932   PMID:38660296   PMID:38676826   PMID:38754303   PMID:38805281   PMID:38811598   PMID:38824863   PMID:38848045  
PMID:38970262   PMID:38985531   PMID:39000267   PMID:39080325   PMID:39099201   PMID:39111316   PMID:39234236  


Genomics

Comparative Map Data
FOXP3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X49,250,438 - 49,264,710 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX49,250,438 - 49,264,800 (-)EnsemblGRCh38hg38GRCh38
GRCh37X49,106,899 - 49,121,172 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X48,994,354 - 49,008,232 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X48,863,780 - 48,877,659NCBI
CeleraX52,543,105 - 52,557,472 (+)NCBICelera
Cytogenetic MapXp11.23NCBI
HuRefX46,763,332 - 46,777,541 (-)NCBIHuRef
CHM1_1X49,139,199 - 49,153,588 (-)NCBICHM1_1
T2T-CHM13v2.0X48,662,300 - 48,676,549 (-)NCBIT2T-CHM13v2.0
Foxp3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X7,445,915 - 7,461,482 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX7,439,883 - 7,461,484 (+)EnsemblGRCm39 Ensembl
GRCm38X7,579,676 - 7,595,243 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX7,573,644 - 7,595,245 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X7,156,819 - 7,172,360 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X6,736,652 - 6,752,193 (+)NCBIMGSCv36mm8
CeleraX3,876,537 - 3,892,077 (-)NCBICelera
Cytogenetic MapXA1.1NCBI
cM MapX3.41NCBI
Foxp3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X17,580,380 - 17,601,181 (-)NCBIGRCr8
mRatBN7.2X14,908,494 - 14,924,994 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX14,908,494 - 14,923,838 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX19,722,817 - 19,738,131 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X20,345,005 - 20,360,319 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X16,610,149 - 16,625,463 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X15,753,175 - 15,768,648 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX15,753,175 - 15,768,522 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X16,544,710 - 16,565,562 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X26,950,006 - 26,965,329 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
CeleraX14,991,861 - 15,007,179 (-)NCBICelera
Cytogenetic MapXq12NCBI
Foxp3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955543731,707 - 742,606 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955543731,707 - 742,606 (-)NCBIChiLan1.0ChiLan1.0
FOXP3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X50,742,581 - 50,759,396 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X50,745,946 - 50,762,762 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X41,550,462 - 41,567,492 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X49,402,652 - 49,417,029 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX49,402,652 - 49,417,029 (-)Ensemblpanpan1.1panPan2
FOXP3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X42,331,229 - 42,362,841 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX42,344,108 - 42,350,758 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX16,722,772 - 16,729,421 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X42,484,818 - 42,504,672 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX42,482,908 - 42,492,386 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X42,469,693 - 42,476,343 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X42,457,152 - 42,463,801 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X42,552,106 - 42,558,755 (-)NCBIUU_Cfam_GSD_1.0
Foxp3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X34,877,987 - 34,897,169 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367211,118,782 - 1,132,308 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367211,118,376 - 1,125,282 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FOXP3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX43,303,785 - 43,322,968 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X43,303,777 - 43,328,164 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X48,151,901 - 48,175,580 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FOXP3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X46,349,890 - 46,365,133 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607611,912,136 - 11,927,083 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Foxp3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624893995,182 - 1,008,679 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624893995,145 - 1,008,492 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FOXP3
302 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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_014009.4(FOXP3):c.1189C>T (p.Arg397Trp) single nucleotide variant Hydrops fetalis [RCV001290142]|Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012160] ChrX:49251441 [GRCh38]
ChrX:49107902 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_014009.4(FOXP3):c.1290_*12delinsTG (p.Pro431fs) indel Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012161] ChrX:49251322..49251340 [GRCh38]
ChrX:49107783..49107801 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_014009.4(FOXP3):c.1112T>G (p.Phe371Cys) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012162] ChrX:49251698 [GRCh38]
ChrX:49108159 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_014009.4(FOXP3):c.1150G>A (p.Ala384Thr) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012163] ChrX:49251480 [GRCh38]
ChrX:49107941 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_014009.4(FOXP3):c.1293_1294del (p.Ter432ThrextTer?) deletion Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012164] ChrX:49251336..49251337 [GRCh38]
ChrX:49107797..49107798 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_014009.4(FOXP3):c.967+4A>G single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012165] ChrX:49253913 [GRCh38]
ChrX:49110374 [GRCh37]
ChrX:Xp11.23		 pathogenic|uncertain significance
NM_014009.4(FOXP3):c.751_753del (p.Glu251del) deletion Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012166]|not provided [RCV004566720] ChrX:49255492..49255494 [GRCh38]
ChrX:49111953..49111955 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_014009.4(FOXP3):c.227del (p.Leu76fs) deletion Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012167] ChrX:49257752 [GRCh38]
ChrX:49114209 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_014009.4(FOXP3):c.1117_1118delinsGC (p.Phe373Ala) indel Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012168] ChrX:49251692..49251693 [GRCh38]
ChrX:49108153..49108154 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_014009.4(FOXP3):c.970T>C (p.Phe324Leu) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012169] ChrX:49253200 [GRCh38]
ChrX:49109661 [GRCh37]
ChrX:Xp11.23		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
FOXP3, 543C-T single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012170] ChrX:Xp11.23-q13.3 pathogenic
NM_014009.4(FOXP3):c.3G>A (p.Met1Ile) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012171] ChrX:49258503 [GRCh38]
ChrX:49114960 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_014009.4(FOXP3):c.1099T>C (p.Phe367Leu) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000012172] ChrX:49251711 [GRCh38]
ChrX:49108172 [GRCh37]
ChrX:Xp11.23		 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:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-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 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 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 Xp11.23-11.22(chrX:47859417-52789530)x3 copy number gain See cases [RCV000052390] ChrX:47859417..52789530 [GRCh38]
ChrX:47835880..52818575 [GRCh37]
ChrX:47603760..52835300 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2 copy number gain See cases [RCV000051992] ChrX:48344666..52664916 [GRCh38]
ChrX:48204101..52616581 [GRCh37]
ChrX:48089045..52710691 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 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 Xp11.23(chrX:48612125-49292405)x2 copy number gain See cases [RCV000054185] ChrX:48612125..49292405 [GRCh38]
ChrX:48510591..49148873 [GRCh37]
ChrX:48355457..49035817 [NCBI36]
ChrX:Xp11.23		 uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
NM_014009.4(FOXP3):c.157G>A (p.Gly53Arg) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001854567]|not provided [RCV000117095] ChrX:49258349 [GRCh38]
ChrX:49114806 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000550727]|not provided [RCV000515082]|not specified [RCV000117096] ChrX:49256855 [GRCh38]
ChrX:49113312 [GRCh37]
ChrX:Xp11.23		 benign|likely benign|conflicting interpretations of pathogenicity
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
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)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: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:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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: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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3 copy number gain See cases [RCV000134956] ChrX:43361870..50931794 [GRCh38]
ChrX:43221119..50674794 [GRCh37]
ChrX:43106063..50691534 [NCBI36]
ChrX:Xp11.3-11.22		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3 copy number gain See cases [RCV000135801] ChrX:48022053..52664916 [GRCh38]
ChrX:47881447..52616581 [GRCh37]
ChrX:47766391..52710691 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3 copy number gain See cases [RCV000135958] ChrX:48344666..58055036 [GRCh38]
ChrX:48204101..58081470 [GRCh37]
ChrX:48089045..58098195 [NCBI36]
ChrX:Xp11.23-11.21		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48260861-52664916)x2 copy number gain See cases [RCV000136829] ChrX:48260861..52664916 [GRCh38]
ChrX:48120296..52616581 [GRCh37]
ChrX:48005240..52710691 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3		 pathogenic|likely benign
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3 copy number gain See cases [RCV000137271] ChrX:44765664..49343053 [GRCh38]
ChrX:44624910..49218180 [GRCh37]
ChrX:44509854..49105124 [NCBI36]
ChrX:Xp11.3-11.23		 likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3 copy number gain See cases [RCV000138106] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52616581 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic|likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1 copy number loss See cases [RCV000138107] ChrX:48429509..52664916 [GRCh38]
ChrX:48287896..52693966 [GRCh37]
ChrX:48172840..52710691 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3		 pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3		 pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31		 pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2 copy number gain See cases [RCV000139185] ChrX:48386298..52664916 [GRCh38]
ChrX:48245740..52616581 [GRCh37]
ChrX:48130684..52710691 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xp11.23-11.22(chrX:48953927-53273903)x2 copy number gain See cases [RCV000141869] ChrX:48953927..53273903 [GRCh38]
ChrX:48811187..53303085 [GRCh37]
ChrX:48696131..53319810 [NCBI36]
ChrX:Xp11.23-11.22		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3 copy number gain See cases [RCV000141567] ChrX:46971389..54130971 [GRCh38]
ChrX:46818746..53957191 [GRCh37]
ChrX:46703690..54174129 [NCBI36]
ChrX:Xp11.3-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_014009.4(FOXP3):c.434C>T (p.Ala145Val) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000193687] ChrX:49257447 [GRCh38]
ChrX:49113904 [GRCh37]
ChrX:Xp11.23		 likely pathogenic
NM_014009.4(FOXP3):c.727del (p.Glu243fs) deletion Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000194536] ChrX:49255723 [GRCh38]
ChrX:49112184 [GRCh37]
ChrX:Xp11.23		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_014009.4(FOXP3):c.398C>T (p.Pro133Leu) single nucleotide variant Diabetes mellitus type 1 [RCV000258798]|not specified [RCV004767206] ChrX:49257483 [GRCh38]
ChrX:49113940 [GRCh37]
ChrX:Xp11.23		 likely pathogenic|uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48310313-52614698)x1 copy number loss See cases [RCV000203435] ChrX:48310313..52614698 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic|uncertain significance
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:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_014009.4(FOXP3):c.*673G>A single nucleotide variant not provided [RCV004703546]|not specified [RCV000243437] ChrX:49250661 [GRCh38]
ChrX:49107122 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014009.4(FOXP3):c.210+1G>C single nucleotide variant not provided [RCV000264548] ChrX:49258295 [GRCh38]
ChrX:49114752 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_014009.4(FOXP3):c.302A>G (p.His101Arg) single nucleotide variant Inborn genetic diseases [RCV003268022] ChrX:49257677 [GRCh38]
ChrX:49114134 [GRCh37]
ChrX:Xp11.23		 uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25		 uncertain significance
NM_014009.4(FOXP3):c.1015C>G (p.Pro339Ala) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001380270]|not provided [RCV000387030] ChrX:49253155 [GRCh38]
ChrX:49109616 [GRCh37]
ChrX:Xp11.23		 pathogenic|likely pathogenic
NM_014009.4(FOXP3):c.430A>G (p.Lys144Glu) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV002491227]|not provided [RCV000596436] ChrX:49257451 [GRCh38]
ChrX:49113908 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.455-6C>T single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV002067167]|not provided [RCV000734388] ChrX:49257018 [GRCh38]
ChrX:49113475 [GRCh37]
ChrX:Xp11.23		 benign|uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_014009.4(FOXP3):c.1009C>T (p.Arg337Ter) single nucleotide variant not provided [RCV000413665] ChrX:49253161 [GRCh38]
ChrX:49109622 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_014009.4(FOXP3):c.1108A>G (p.Met370Val) single nucleotide variant not provided [RCV000414229] ChrX:49251702 [GRCh38]
ChrX:49108163 [GRCh37]
ChrX:Xp11.23		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x3 copy number gain See cases [RCV000449147] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x2 copy number gain See cases [RCV000447617] ChrX:48317353..51497588 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_014009.4(FOXP3):c.409G>A (p.Ala137Thr) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001851113]|Monogenic diabetes [RCV000445467]|not provided [RCV003884541] ChrX:49257472 [GRCh38]
ChrX:49113929 [GRCh37]
ChrX:Xp11.23		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_014009.4(FOXP3):c.1190G>A (p.Arg397Gln) single nucleotide variant Anemia [RCV000735408]|FOXP3-related disorder [RCV003897856]|Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV003227748]|See cases [RCV003156094]|not provided [RCV000420714] ChrX:49251440 [GRCh38]
ChrX:49107901 [GRCh37]
ChrX:Xp11.23		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_014009.4(FOXP3):c.597C>A (p.Cys199Ter) single nucleotide variant not provided [RCV000478450] ChrX:49256801 [GRCh38]
ChrX:49113258 [GRCh37]
ChrX:Xp11.23		 likely pathogenic
NM_014009.4(FOXP3):c.1076C>T (p.Thr359Ile) single nucleotide variant not provided [RCV000486769] ChrX:49251734 [GRCh38]
ChrX:49108195 [GRCh37]
ChrX:Xp11.23		 likely pathogenic
NM_014009.4(FOXP3):c.340C>T (p.Arg114Trp) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000970540]|not specified [RCV000501041] ChrX:49257541 [GRCh38]
ChrX:49113998 [GRCh37]
ChrX:Xp11.23		 benign|uncertain significance
NM_014009.4(FOXP3):c.324G>A (p.Thr108=) single nucleotide variant FOXP3-related disorder [RCV003960166]|Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000905469]|not specified [RCV000503676] ChrX:49257557 [GRCh38]
ChrX:49114014 [GRCh37]
ChrX:Xp11.23		 benign|likely benign
NM_014009.4(FOXP3):c.1222G>A (p.Val408Met) single nucleotide variant FOXP3-related disorder [RCV003392329]|Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000504127] ChrX:49251408 [GRCh38]
ChrX:49107869 [GRCh37]
ChrX:Xp11.23		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_014009.3(FOXP3):c.-353G>C single nucleotide variant not specified [RCV000502037] ChrX:49264991 [GRCh38]
ChrX:49121453 [GRCh37]
ChrX:Xp11.23		 uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23		 pathogenic
NM_014009.3(FOXP3):c.-78C>T single nucleotide variant not specified [RCV000500612] ChrX:49264716 [GRCh38]
ChrX:49121178 [GRCh37]
ChrX:Xp11.23		 benign|uncertain significance
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1		 pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_014009.4(FOXP3):c.112G>T (p.Ala38Ser) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001517345] ChrX:49258394 [GRCh38]
ChrX:49114851 [GRCh37]
ChrX:Xp11.23		 benign|uncertain significance
NM_014009.4(FOXP3):c.1129C>G (p.His377Asp) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000635246] ChrX:49251681 [GRCh38]
ChrX:49108142 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.773C>T (p.Ala258Val) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000635247] ChrX:49255472 [GRCh38]
ChrX:49111933 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.486C>T (p.Ser162=) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001409939] ChrX:49256981 [GRCh38]
ChrX:49113438 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014009.4(FOXP3):c.30G>A (p.Ser10=) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001446586] ChrX:49258476 [GRCh38]
ChrX:49114933 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014009.4(FOXP3):c.439C>G (p.Pro147Ala) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV002491183]|not provided [RCV000594280] ChrX:49257442 [GRCh38]
ChrX:49113899 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.1135G>A (p.Ala379Thr) single nucleotide variant not provided [RCV000595099] ChrX:49251675 [GRCh38]
ChrX:49108136 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.984G>A (p.Met328Ile) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000524641]|not specified [RCV001821524] ChrX:49253186 [GRCh38]
ChrX:49109647 [GRCh37]
ChrX:Xp11.23		 conflicting interpretations of pathogenicity|uncertain significance
NM_014009.4(FOXP3):c.748_750del (p.Lys250del) deletion Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001380271]|not provided [RCV000595405] ChrX:49255495..49255497 [GRCh38]
ChrX:49111956..49111958 [GRCh37]
ChrX:Xp11.23		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_014009.4(FOXP3):c.1036A>G (p.Ile346Val) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000635245] ChrX:49253134 [GRCh38]
ChrX:49109595 [GRCh37]
ChrX:Xp11.23		 uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3		 pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3 copy number gain See cases [RCV000512224] ChrX:48224454..52813336 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 copy number gain See cases [RCV000512561] ChrX:48290189..52154997 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_014009.4(FOXP3):c.140G>T (p.Gly47Val) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000699173] ChrX:49258366 [GRCh38]
ChrX:49114823 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.210+1G>T single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000697871] ChrX:49258295 [GRCh38]
ChrX:49114752 [GRCh37]
ChrX:Xp11.23		 pathogenic|likely pathogenic
NM_014009.4(FOXP3):c.176C>G (p.Ser59Cys) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000968776]|Monogenic diabetes [RCV000664161] ChrX:49258330 [GRCh38]
ChrX:49114787 [GRCh37]
ChrX:Xp11.23		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1 copy number loss not provided [RCV000684331] ChrX:48156672..52672728 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31		 pathogenic
NM_014009.4(FOXP3):c.1270_1272delinsC (p.Cys424fs) indel Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000690380] ChrX:49251358..49251360 [GRCh38]
ChrX:49107819..49107821 [GRCh37]
ChrX:Xp11.23		 likely pathogenic
NM_014009.4(FOXP3):c.1247A>T (p.Lys416Ile) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000705409] ChrX:49251383 [GRCh38]
ChrX:49107844 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.694T>G (p.Cys232Gly) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000701902] ChrX:49255756 [GRCh38]
ChrX:49112217 [GRCh37]
ChrX:Xp11.23		 pathogenic|likely pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
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 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 pathogenic
NM_014009.4(FOXP3):c.*878A>G single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001065770] ChrX:49250456 [GRCh38]
ChrX:49106917 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.691C>A (p.Gln231Lys) single nucleotide variant Non-obstructive azoospermia [RCV000999511] ChrX:49255759 [GRCh38]
ChrX:49112220 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_014009.4(FOXP3):c.155G>T (p.Gly52Val) single nucleotide variant FOXP3-related disorder [RCV003910460]|Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000885000]|Non-obstructive azoospermia [RCV000999510]|not specified [RCV001817093] ChrX:49258351 [GRCh38]
ChrX:49114808 [GRCh37]
ChrX:Xp11.23		 pathogenic|benign|likely benign
NM_014009.4(FOXP3):c.1051C>T (p.Leu351=) single nucleotide variant FOXP3-related disorder [RCV003960790]|Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000967721] ChrX:49251759 [GRCh38]
ChrX:49108220 [GRCh37]
ChrX:Xp11.23		 benign|likely benign
NM_014009.4(FOXP3):c.1044G>T (p.Trp348Cys) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001055025] ChrX:49253126 [GRCh38]
ChrX:49109587 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.551C>T (p.Ser184Leu) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000768225] ChrX:49256847 [GRCh38]
ChrX:49113304 [GRCh37]
ChrX:Xp11.23		 conflicting interpretations of pathogenicity|uncertain significance
46,Y,inv(X)(p21.1q13.3) inversion Elevated circulating creatine kinase concentration [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3		 likely pathogenic
NM_014009.4(FOXP3):c.1149C>T (p.Asn383=) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001516052] ChrX:49251481 [GRCh38]
ChrX:49107942 [GRCh37]
ChrX:Xp11.23		 benign
NM_014009.4(FOXP3):c.495G>A (p.Pro165=) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000980758] ChrX:49256972 [GRCh38]
ChrX:49113429 [GRCh37]
ChrX:Xp11.23		 benign|likely benign
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_014009.4(FOXP3):c.631C>T (p.Pro211Ser) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000822520] ChrX:49256767 [GRCh38]
ChrX:49113224 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.928A>G (p.Arg310Gly) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000817347] ChrX:49253956 [GRCh38]
ChrX:49110417 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.736-1G>A single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000825005] ChrX:49255510 [GRCh38]
ChrX:49111971 [GRCh37]
ChrX:Xp11.23		 likely pathogenic
NM_014009.4(FOXP3):c.337G>T (p.Ala113Ser) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000797311] ChrX:49257544 [GRCh38]
ChrX:49114001 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.1040G>A (p.Arg347His) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000801492]|not provided [RCV001509120] ChrX:49253130 [GRCh38]
ChrX:49109591 [GRCh37]
ChrX:Xp11.23		 pathogenic|likely pathogenic|likely risk allele
NM_014009.4(FOXP3):c.817-5C>T single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001440607]|not provided [RCV000999429] ChrX:49254072 [GRCh38]
ChrX:49110533 [GRCh37]
ChrX:Xp11.23		 likely benign|uncertain significance
NM_014009.4(FOXP3):c.542G>T (p.Ser181Ile) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000805851] ChrX:49256925 [GRCh38]
ChrX:49113382 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.552G>T (p.Ser184=) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001476923] ChrX:49256846 [GRCh38]
ChrX:49113303 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014009.4(FOXP3):c.1079T>C (p.Leu360Pro) single nucleotide variant not provided [RCV000788813] ChrX:49251731 [GRCh38]
ChrX:49108192 [GRCh37]
ChrX:Xp11.23		 likely pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
NM_014009.4(FOXP3):c.1200C>A (p.Ser400Arg) single nucleotide variant not provided [RCV000788899] ChrX:49251430 [GRCh38]
ChrX:49107891 [GRCh37]
ChrX:Xp11.23		 uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32		 pathogenic
NM_014009.4(FOXP3):c.1116C>A (p.Ala372=) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001410035] ChrX:49251694 [GRCh38]
ChrX:49108155 [GRCh37]
ChrX:Xp11.23		 likely benign
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2 copy number gain not provided [RCV000847795] ChrX:48224266..52744574 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
NM_014009.4(FOXP3):c.130A>G (p.Thr44Ala) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001231807] ChrX:49258376 [GRCh38]
ChrX:49114833 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.890G>C (p.Gly297Ala) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001222630] ChrX:49253994 [GRCh38]
ChrX:49110455 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.616_618del (p.Lys206del) deletion Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001222928] ChrX:49256780..49256782 [GRCh38]
ChrX:49113237..49113239 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.597C>T (p.Cys199=) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001225176] ChrX:49256801 [GRCh38]
ChrX:49113258 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.1280C>G (p.Pro427Arg) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001226162] ChrX:49251350 [GRCh38]
ChrX:49107811 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.805G>A (p.Ala269Thr) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001229072] ChrX:49255440 [GRCh38]
ChrX:49111901 [GRCh37]
ChrX:Xp11.23		 likely benign|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1		 pathogenic
NC_000023.10:g.(?_47001716)_(50659607_?)dup duplication Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV003122411]|Neurodegeneration with brain iron accumulation 5 [RCV003105408]|SLC35A2-congenital disorder of glycosylation [RCV003122412] ChrX:47001716..50659607 [GRCh37]
ChrX:Xp11.23-11.22		 uncertain significance
NM_014009.4(FOXP3):c.211-74G>A single nucleotide variant not provided [RCV001678537] ChrX:49257842 [GRCh38]
ChrX:49114299 [GRCh37]
ChrX:Xp11.23		 benign
NM_014009.4(FOXP3):c.211-231A>G single nucleotide variant not provided [RCV001641846] ChrX:49257999 [GRCh38]
ChrX:49114456 [GRCh37]
ChrX:Xp11.23		 benign
NM_014009.4(FOXP3):c.505T>C (p.Cys169Arg) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001996555] ChrX:49256962 [GRCh38]
ChrX:49113419 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.-23+1G>T single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000853242] ChrX:49264660 [GRCh38]
ChrX:49121122 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_014009.4(FOXP3):c.361C>T (p.His121Tyr) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000908445] ChrX:49257520 [GRCh38]
ChrX:49113977 [GRCh37]
ChrX:Xp11.23		 benign|conflicting interpretations of pathogenicity
NM_014009.4(FOXP3):c.1045-15_1045-9del deletion Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001426610] ChrX:49251774..49251780 [GRCh38]
ChrX:49108235..49108241 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014009.4(FOXP3):c.168CTC[1] (p.Ser60del) microsatellite Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000974698]|Monogenic diabetes [RCV001174438]|not specified [RCV001819145] ChrX:49258333..49258335 [GRCh38]
ChrX:49114790..49114792 [GRCh37]
ChrX:Xp11.23		 benign|likely benign|uncertain significance
NM_014009.4(FOXP3):c.129A>G (p.Gly43=) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001410955] ChrX:49258377 [GRCh38]
ChrX:49114834 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014009.4(FOXP3):c.1241G>A (p.Arg414His) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV002066195] ChrX:49251389 [GRCh38]
ChrX:49107850 [GRCh37]
ChrX:Xp11.23		 benign|likely benign
NM_014009.4(FOXP3):c.1031C>A (p.Thr344Lys) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001034846] ChrX:49253139 [GRCh38]
ChrX:49109600 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.967G>A (p.Glu323Lys) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001214333] ChrX:49253917 [GRCh38]
ChrX:49110378 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.506G>A (p.Cys169Tyr) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001049743] ChrX:49256961 [GRCh38]
ChrX:49113418 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.1027G>A (p.Ala343Thr) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001209537] ChrX:49253143 [GRCh38]
ChrX:49109604 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.816+6C>T single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001224825]|not specified [RCV003490139] ChrX:49255423 [GRCh38]
ChrX:49111884 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.142C>T (p.Arg48Ter) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001224826] ChrX:49258364 [GRCh38]
ChrX:49114821 [GRCh37]
ChrX:Xp11.23		 pathogenic
NM_014009.4(FOXP3):c.624C>T (p.Phe208=) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV000956000] ChrX:49256774 [GRCh38]
ChrX:49113231 [GRCh37]
ChrX:Xp11.23		 benign
NM_014009.4(FOXP3):c.895C>T (p.Arg299Trp) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001503222]|not provided [RCV003457892] ChrX:49253989 [GRCh38]
ChrX:49110450 [GRCh37]
ChrX:Xp11.23		 likely benign|uncertain significance
NM_014009.4(FOXP3):c.-23+153= deletion not provided [RCV001689033] ChrX:49264508..49264514 [GRCh38]
ChrX:49120970..49120976 [GRCh37]
ChrX:Xp11.23		 benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_014009.4(FOXP3):c.-23+2877= single nucleotide variant not provided [RCV001696736] ChrX:49261784 [GRCh38]
ChrX:49118241 [GRCh37]
ChrX:Xp11.23		 benign
NM_014009.4(FOXP3):c.817-221G>A single nucleotide variant not provided [RCV001615792] ChrX:49254288 [GRCh38]
ChrX:49110749 [GRCh37]
ChrX:Xp11.23		 benign
NM_014009.4(FOXP3):c.70C>T (p.Pro24Ser) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV003771858]|not provided [RCV001703079] ChrX:49258436 [GRCh38]
ChrX:49114893 [GRCh37]
ChrX:Xp11.23		 likely benign|uncertain significance
NM_014009.4(FOXP3):c.-22-181GT[15] microsatellite not provided [RCV001694519] ChrX:49258677..49258678 [GRCh38]
ChrX:49115134..49115135 [GRCh37]
ChrX:Xp11.23		 benign
NM_014009.4(FOXP3):c.210+1G>A single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001035787] ChrX:49258295 [GRCh38]
ChrX:49114752 [GRCh37]
ChrX:Xp11.23		 pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2 copy number gain not provided [RCV001537899] ChrX:47179068..54424785 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
NM_014009.4(FOXP3):c.-22-181GT[12] microsatellite not provided [RCV001672029] ChrX:49258677..49258684 [GRCh38]
ChrX:49115134..49115141 [GRCh37]
ChrX:Xp11.23		 benign
NM_014009.4(FOXP3):c.1248A>T (p.Lys416Asn) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001034316] ChrX:49251382 [GRCh38]
ChrX:49107843 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014009.4(FOXP3):c.1010G>A (p.Arg337Gln) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001204541]|Neurodevelopmental disorder [RCV003389067]|not provided [RCV002504237] ChrX:49253160 [GRCh38]
ChrX:49109621 [GRCh37]
ChrX:Xp11.23		 pathogenic|likely pathogenic|likely risk allele
NM_014009.4(FOXP3):c.896G>A (p.Arg299Gln) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001230003] ChrX:49253988 [GRCh38]
ChrX:49110449 [GRCh37]
ChrX:Xp11.23		 likely benign|uncertain significance
NM_014009.4(FOXP3):c.650A>G (p.His217Arg) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001217737] ChrX:49255800 [GRCh38]
ChrX:49112261 [GRCh37]
ChrX:Xp11.23		 uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3 copy number gain not provided [RCV001007303] ChrX:48307437..50657313 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
NM_014009.4(FOXP3):c.451C>T (p.Pro151Ser) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001217233] ChrX:49257430 [GRCh38]
ChrX:49113887 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.1073G>A (p.Arg358Gln) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001059839]|not specified [RCV001819784] ChrX:49251737 [GRCh38]
ChrX:49108198 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.926G>A (p.Arg309Gln) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001054922]|not provided [RCV002067721] ChrX:49253958 [GRCh38]
ChrX:49110419 [GRCh37]
ChrX:Xp11.23		 likely benign|uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_014009.4(FOXP3):c.119G>A (p.Gly40Asp) single nucleotide variant Inborn genetic diseases [RCV001266028]|Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV002542846] ChrX:49258387 [GRCh38]
ChrX:49114844 [GRCh37]
ChrX:Xp11.23		 likely benign|uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2 copy number gain not provided [RCV001258953] ChrX:48102202..52685635 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2 copy number gain not provided [RCV001258954] ChrX:48178413..52686510 [GRCh37]
ChrX:Xp11.23-11.22		 pathogenic
NM_014009.4(FOXP3):c.1117TTC[1] (p.Phe374del) microsatellite Hydrops fetalis [RCV001257372] ChrX:49251688..49251690 [GRCh38]
ChrX:49108149..49108151 [GRCh37]
ChrX:Xp11.23		 likely pathogenic
NM_014009.4(FOXP3):c.977A>G (p.His326Arg) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001334727] ChrX:49253193 [GRCh38]
ChrX:49109654 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.1156C>T (p.Arg386Cys) single nucleotide variant not provided [RCV001268746] ChrX:49251474 [GRCh38]
ChrX:49107935 [GRCh37]
ChrX:Xp11.23		 likely pathogenic
Single allele complex Turner syndrome [RCV002280670] ChrX:590376..56315041 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) copy number loss Turner syndrome [RCV002280671] ChrX:168546..57841304 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_014009.4(FOXP3):c.967+3A>T single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001326559] ChrX:49253914 [GRCh38]
ChrX:49110375 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.967+5G>A single nucleotide variant not specified [RCV004783406] ChrX:49253912 [GRCh38]
ChrX:49110373 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.253C>T (p.Arg85Trp) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001316091]|not provided [RCV001724292] ChrX:49257726 [GRCh38]
ChrX:49114183 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.102C>A (p.Asp34Glu) single nucleotide variant Diabetes mellitus type 1 [RCV001281015]|Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV003224546] ChrX:49258404 [GRCh38]
ChrX:49114861 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NC_000023.10:g.(?_48382160)_(49856876_?)dup duplication Neurodegeneration with brain iron accumulation 5 [RCV001305099]|SLC35A2-congenital disorder of glycosylation [RCV001308190] ChrX:48382160..49856876 [GRCh37]
ChrX:Xp11.23-11.22		 uncertain significance
NM_014009.4(FOXP3):c.508A>G (p.Thr170Ala) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001316532] ChrX:49256959 [GRCh38]
ChrX:49113416 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.1289_1293del (p.Gly430fs) deletion Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001340420] ChrX:49251337..49251341 [GRCh38]
ChrX:49107798..49107802 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.912C>T (p.Ser304=) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001422773] ChrX:49253972 [GRCh38]
ChrX:49110433 [GRCh37]
ChrX:Xp11.23		 likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_014009.4(FOXP3):c.105G>A (p.Leu35=) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001395440] ChrX:49258401 [GRCh38]
ChrX:49114858 [GRCh37]
ChrX:Xp11.23		 likely benign
NM_014009.4(FOXP3):c.1163A>G (p.Asn388Ser) single nucleotide variant not specified [RCV001358703] ChrX:49251467 [GRCh38]
ChrX:49107928 [GRCh37]
ChrX:Xp11.23		 uncertain significance
NM_014009.4(FOXP3):c.825C>T (p.Ser275=) single nucleotide variant Insulin-dependent diabetes mellitus secretory diarrhea syndrome [