CTLA4 (cytotoxic T-lymphocyte associated protein 4) - Rat Genome Database

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Gene: CTLA4 (cytotoxic T-lymphocyte associated protein 4) Homo sapiens
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Symbol: CTLA4
Name: cytotoxic T-lymphocyte associated protein 4
RGD ID: 737465
HGNC Page HGNC:2505
Description: Involved in several processes, including B cell receptor signaling pathway; negative regulation of lymphocyte activation; and positive regulation of apoptotic process. Located in several cellular components, including clathrin-coated endocytic vesicle; external side of plasma membrane; and perinuclear region of cytoplasm. Part of protein complex involved in cell adhesion. Implicated in several diseases, including carcinoma (multiple); graft-versus-host disease; hematologic cancer (multiple); kidney disease (multiple); and primary immunodeficiency disease (multiple). Biomarker of several diseases, including anogenital venereal wart; autoimmune disease (multiple); hepatitis A; lung disease (multiple); and tropical spastic paraparesis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ALPS5; CD; CD152; cd152 antigen; CD152 isoform; celiac disease 3; CELIAC3; CTLA-4; cytotoxic T lymphocyte associated antigen 4 short spliced form; cytotoxic T-lymphocyte antigen 4; cytotoxic T-lymphocyte protein 4; cytotoxic T-lymphocyte-associated antigen 4; cytotoxic T-lymphocyte-associated protein 4; cytotoxic T-lymphocyte-associated serine esterase-4; gluten-sensitive enteropathy; GRD4; GSE; ICOS; IDDM12; insulin-dependent diabetes mellitus 12; ligand and transmembrane spliced cytotoxic T lymphocyte associated antigen 4
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
GRCh382203,867,771 - 203,873,965 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2203,853,888 - 203,873,965 (+)EnsemblGRCh38hg38GRCh38
GRCh372204,732,494 - 204,738,688 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362204,440,754 - 204,446,928 (+)NCBINCBI36Build 36hg18NCBI36
Build 342204,558,016 - 204,564,189NCBI
Celera2198,487,330 - 198,493,462 (+)NCBICelera
Cytogenetic Map2q33.2NCBI
HuRef2196,579,809 - 196,585,939 (+)NCBIHuRef
CHM1_12204,739,066 - 204,745,196 (+)NCBICHM1_1
T2T-CHM13v2.02204,349,656 - 204,355,847 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute myeloid leukemia  (IAGP)
adult T-cell leukemia/lymphoma  (EXP)
Alcoholic Liver Diseases  (IAGP)
allergic rhinitis  (ISO)
alopecia areata  (EXP,IAGP)
anogenital venereal wart  (IEP)
anti-basement membrane glomerulonephritis  (IDA,IMP,ISO)
Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis  (IAGP)
Asparagine Synthetase Deficiency  (IAGP)
asthma  (EXP,IAGP,IDA,IEP,ISO)
atopic dermatitis  (IAGP,IEP)
autoimmune hemolytic anemia  (IAGP)
autoimmune hepatitis  (IAGP)
Autoimmune Hypothyroidism  (IAGP)
autoimmune lymphoproliferative syndrome type 2B  (IAGP)
Autoimmune Lymphoproliferative Syndrome, Type V  (IAGP)
autoimmune thyroiditis  (IAGP)
B-Cell Chronic Lymphocytic Leukemia  (IEP)
basal cell carcinoma  (IAGP)
Behcet's disease  (IAGP)
breast cancer  (IAGP,IEP)
Bronchial Hyperreactivity  (IAGP)
celiac disease  (EXP,IAGP)
Chronic Bronchitis  (IAGP)
Chronic Hepatitis B  (IAGP)
Chronic Hepatitis C  (IAGP)
chronic obstructive pulmonary disease  (IAGP,IEP)
common variable immunodeficiency 1  (IAGP)
contact dermatitis  (ISO)
Cryptogenic Cirrhosis  (IAGP)
Diabetic Nephropathies  (IEP)
end stage renal disease  (IAGP)
Enterocolitis  (IMP)
Experimental Arthritis  (IMP,ISO)
Experimental Autoimmune Encephalomyelitis  (IMP)
Experimental Autoimmune Uveitis  (IMP,ISO)
Experimental Melanoma  (IMP)
genetic disease  (IAGP)
graft-versus-host disease  (EXP,IDA)
granulomatosis with polyangiitis  (IAGP)
Graves ophthalmopathy  (IAGP,IEP)
Graves' disease  (EXP,IAGP)
Hashimoto Disease  (EXP,IAGP)
hepatitis A  (IEP)
hepatitis B  (IAGP)
hepatocellular carcinoma  (IAGP,IEP)
immunoglobulin alpha deficiency  (IAGP)
Inflammation  (IEP)
iridocyclitis  (IAGP)
juvenile rheumatoid arthritis  (EXP)
kidney disease  (IAGP)
Kidney Reperfusion Injury  (IDA,ISO)
latent autoimmune diabetes in adults  (IAGP)
lung disease  (ISO)
lupus nephritis  (IDA)
Lymphadenopathy  (ISO)
Lymphatic Metastasis  (ISO)
malaria  (IEP,ISO)
melanoma  (EXP,IAGP)
monoclonal gammopathy of uncertain significance  (IAGP)
multiple myeloma  (IAGP)
multiple sclerosis  (IAGP)
myocardial infarction  (IAGP)
myocarditis  (ISO)
Neoplasm Metastasis  (IMP,ISO)
Neurodevelopmental Disorders  (IAGP)
non-Hodgkin lymphoma  (IAGP)
oral submucous fibrosis  (EXP)
peripheral nervous system disease  (EXP)
primary biliary cholangitis  (IAGP)
primary cutaneous T-cell non-Hodgkin lymphoma  (EXP)
primary immunodeficiency disease  (IAGP)
primary pulmonary hypertension  (IAGP)
Prostatic Neoplasms  (ISO)
psoriasis  (IMP)
Pulmonary Arterial Hypertension  (IAGP)
renal cell carcinoma  (IAGP)
rheumatoid arthritis  (EXP)
rhinitis  (IEP)
sarcoidosis  (IAGP)
silicosis  (IEP)
Sjogren's syndrome  (IAGP,IEP)
Splenomegaly  (ISO)
squamous cell carcinoma  (IAGP)
systemic lupus erythematosus  (EXP,IAGP,ISO)
Transplant Rejection  (IAGP,IMP,ISO)
tropical spastic paraparesis  (IEP)
type 1 diabetes mellitus  (IAGP)
type 1 diabetes mellitus 12  (EXP,IAGP)
urinary schistosomiasis  (IAGP)
vitiligo  (IAGP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function
protein binding  (IPI,ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal bone marrow cell morphology  (IAGP)
Abnormal circulating immunoglobulin concentration  (IAGP)
Abnormal eyelid morphology  (IAGP)
Abnormal lymphocyte morphology  (IAGP)
Abnormal nail morphology  (IAGP)
Abnormal oral cavity morphology  (IAGP)
Abnormal pigmentation of the oral mucosa  (IAGP)
Abnormal pleura morphology  (IAGP)
Abnormal T cell count  (IAGP)
Abnormal T cell morphology  (IAGP)
Abnormality of salivation  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Abnormality of the nose  (IAGP)
Allergy  (IAGP)
Alopecia  (IAGP)
Angina pectoris  (IAGP)
Anorexia  (IAGP)
Anti-complement component C1q antibody positivity  (IAGP)
Anti-dsDNA antibody positivity  (IAGP)
Anti-La/SS-B antibody positivity  (IAGP)
Anti-myeloperoxidase antibody positivity  (IAGP)
Anti-neutrophil elastase antibody positivity  (IAGP)
Anti-nucleoporin 62 antibody positivity  (IAGP)
Anti-phosphatidic acid antibody positivity  (IAGP)
Anti-proteinase 3 antibody positivity  (IAGP)
Anti-ribosome Po antibody positivity  (IAGP)
Anti-Ro52/TRIM21 antibody positivity  (IAGP)
Anti-Sm antibody positivity  (IAGP)
Anti-titin antibody positivity  (IAGP)
Anti-U1 ribonucleoprotein antibody positivity  (IAGP)
Antineutrophil antibody positivity  (IAGP)
Antinuclear antibody positivity  (IAGP)
Antiphospholipid antibody positivity  (IAGP)
Arrhythmia  (IAGP)
Arthralgia  (IAGP)
Arthritis  (IAGP)
Atopic dermatitis  (IAGP)
Atrophic gastritis  (IAGP)
Autoimmune antibody positivity  (IAGP)
Autoimmune hemolytic anemia  (IAGP)
Autoimmune thrombocytopenia  (IAGP)
Autoimmunity  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bilateral tonic-clonic seizure  (IAGP)
Bronchiectasis  (IAGP)
Cerebral ischemia  (IAGP)
Cheilitis  (IAGP)
Chest pain  (IAGP)
Chills  (IAGP)
Chorea  (IAGP)
Chronic otitis media  (IAGP)
Chronic pulmonary obstruction  (IAGP)
Cough  (IAGP)
Cranial nerve paralysis  (IAGP)
Crohn's disease  (IAGP)
Cutaneous photosensitivity  (IAGP)
Cutaneous T-cell lymphoma  (IAGP)
Cytoplasmic antineutrophil antibody positivity  (IAGP)
Decreased circulating antibody concentration  (IAGP)
Decreased circulating complement C3 concentration  (IAGP)
Decreased circulating complement C4 concentration  (IAGP)
Decreased circulating IgA concentration  (IAGP)
Decreased circulating IgG concentration  (IAGP)
Decreased circulating total IgM  (IAGP)
Decreased proportion of immature B cells  (IAGP)
Depression  (IAGP)
Diabetes insipidus  (IAGP)
Diarrhea  (IAGP)
Diffuse alveolar hemorrhage  (IAGP)
Diffuse skin atrophy  (IAGP)
Discoid lupus rash  (IAGP)
Dry skin  (IAGP)
Ectropion  (IAGP)
Eczematoid dermatitis  (IAGP)
Edema  (IAGP)
Elevated circulating C-reactive protein concentration  (IAGP)
Elevated erythrocyte sedimentation rate  (IAGP)
Epistaxis  (IAGP)
Erythema  (IAGP)
Erythematous macule  (IAGP)
Erythroderma  (IAGP)
Fatigue  (IAGP)
Fever  (IAGP)
Gangrene  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Glomerulonephritis  (IAGP)
Glomerulopathy  (IAGP)
Granulomatosis  (IAGP)
Growth delay  (IAGP)
Hashimoto thyroiditis  (IAGP)
Headache  (IAGP)
Hematuria  (IAGP)
Hemiplegia  (IAGP)
Hemolytic anemia  (IAGP)
Hemoptysis  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Hydronephrosis  (IAGP)
Hyperkeratosis  (IAGP)
Hypertension  (IAGP)
Hyperthyroidism  (IAGP)
Hypopigmented skin patches  (IAGP)
Hypothermia  (IAGP)
Immunodeficiency  (IAGP)
Impaired T cell function  (IAGP)
Increased CD4:CD8 ratio  (IAGP)
Increased inflammatory response  (IAGP)
Inflammation of the large intestine  (IAGP)
Inflammatory abnormality of the eye  (IAGP)
Intestinal obstruction  (IAGP)
Irregular hyperpigmentation  (IAGP)
Keratitis  (IAGP)
Leukopenia  (IAGP)
Lichenification  (IAGP)
Lupus nephritis  (IAGP)
Lymphadenopathy  (IAGP)
Lymphocytic infiltration of the colorectal mucosa  (IAGP)
Lymphoma  (IAGP)
Lymphopenia  (IAGP)
Malaise  (IAGP)
Malar rash  (IAGP)
Meningitis  (IAGP)
Myalgia  (IAGP)
Nail dystrophy  (IAGP)
Nasolacrimal duct obstruction  (IAGP)
Nausea and vomiting  (IAGP)
Neoplasm of the skin  (IAGP)
Nephritis  (IAGP)
Neutropenia in presence of anti-neutropil antibodies  (IAGP)
Night sweats  (IAGP)
Optic neuritis  (IAGP)
Oral ulcer  (IAGP)
Otitis media  (IAGP)
Palmoplantar keratoderma  (IAGP)
Pancreatitis  (IAGP)
Papule  (IAGP)
Pericarditis  (IAGP)
Periorbital edema  (IAGP)
Peripheral neuropathy  (IAGP)
Pleural effusion  (IAGP)
Pleuritis  (IAGP)
Pneumonia  (IAGP)
Poikiloderma  (IAGP)
Polyarticular arthritis  (IAGP)
Proptosis  (IAGP)
Prostatitis  (IAGP)
Proteinuria  (IAGP)
Pruritus  (IAGP)
Psoriasiform dermatitis  (IAGP)
Psychosis  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary fibrosis  (IAGP)
Pulmonary infiltrates  (IAGP)
Pulmonary nodule  (IAGP)
Pure red cell aplasia  (IAGP)
Purpura  (IAGP)
Pyuria  (IAGP)
Raynaud phenomenon  (IAGP)
Recurrent candida infections  (IAGP)
Recurrent intrapulmonary hemorrhage  (IAGP)
Recurrent lower respiratory tract infections  (IAGP)
Recurrent respiratory infections  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Renal insufficiency  (IAGP)
Respiratory insufficiency  (IAGP)
Restrictive ventilatory defect  (IAGP)
Retinopathy  (IAGP)
Scleritis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Sensory neuropathy  (IAGP)
Sepsis  (IAGP)
Serositis  (IAGP)
Shivering  (IAGP)
Sinusitis  (IAGP)
Skeletal muscle atrophy  (IAGP)
Skin plaque  (IAGP)
Skin rash  (IAGP)
Skin ulcer  (IAGP)
Splenomegaly  (IAGP)
Subglottic stenosis  (IAGP)
Systemic lupus erythematosus  (IAGP)
Thrombocytopenia  (IAGP)
Thyroiditis  (IAGP)
Tremor  (IAGP)
Type I diabetes mellitus  (IAGP)
Typified by incomplete penetrance  (IAGP)
Ureteral stenosis  (IAGP)
Vasculitis  (IAGP)
Venous thrombosis  (IAGP)
Visual impairment  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Prevention of experimental autoimmune myocarditis by hydrodynamics-based naked plasmid DNA encoding CTLA4-Ig gene delivery. Abe S, etal., J Card Fail. 2005 Sep;11(7):557-64.
2. Blockade of T lymphocyte costimulation with cytotoxic T lymphocyte-associated antigen 4-immunoglobulin (CTLA4Ig) reverses the cellular pathology of psoriatic plaques, including the activation of keratinocytes, dendritic cells, and endothelial cells. Abrams JR, etal., J Exp Med. 2000 Sep 4;192(5):681-94.
3. CTLA-4 gene polymorphism confers susceptibility to primary biliary cirrhosis. Agarwal K, etal., J Hepatol. 2000 Apr;32(4):538-41.
4. Genetic polymorphisms in CTLA4 and SLC4A2 are differentially associated with the pathogenesis of primary biliary cirrhosis in Japanese patients. Aiba Y, etal., J Gastroenterol. 2011 Oct;46(10):1203-12. doi: 10.1007/s00535-011-0417-7. Epub 2011 May 19.
5. Promoter region -318 C/ T and -1661 A/G CTLA-4 single nucleotide polymorphisms and type 1 diabetes in North Indians. Baniasadi V, etal., Tissue Antigens. 2006 May;67(5):383-9.
6. Enterocolitis in patients with cancer after antibody blockade of cytotoxic T-lymphocyte-associated antigen 4. Beck KE, etal., J Clin Oncol. 2006 May 20;24(15):2283-9. doi: 10.1200/JCO.2005.04.5716.
7. Functional polymorphism in CTLA4 gene influences the response to therapy with inhaled corticosteroids in Slovenian children with atopic asthma. Berce V and Potocnik U, Biomarkers. 2010 Mar;15(2):158-66.
8. Reduced frequencies and suppressive function of CD4+CD25hi regulatory T cells in patients with chronic lymphocytic leukemia after therapy with fludarabine. Beyer M, etal., Blood. 2005 Sep 15;106(6):2018-25. Epub 2005 May 24.
9. In vivo blockade of CD28/CTLA4: B7/BB1 interaction with CTLA4-Ig reduces lethal murine graft-versus-host disease across the major histocompatibility complex barrier in mice. Blazar BR, etal., Blood. 1994 Jun 15;83(12):3815-25.
10. CTLA4 polymorphisms are associated with vitiligo, in patients with concomitant autoimmune diseases. Blomhoff A, etal., Pigment Cell Res. 2005 Feb;18(1):55-8.
11. Increased salivary gland tissue expression of Fas, Fas ligand, cytotoxic T lymphocyte-associated antigen 4, and programmed cell death 1 in primary Sjogren's syndrome. Bolstad AI, etal., Arthritis Rheum. 2003 Jan;48(1):174-85.
12. CTLA-4 promoter variants in patients with Graves' disease and Hashimoto's thyroiditis. Braun J, etal., Tissue Antigens. 1998 May;51(5):563-6.
13. CD28-b7 blockade in organ dysfunction secondary to cold ischemia/reperfusion injury. Chandraker A, etal., Kidney Int. 1997 Dec;52(6):1678-84.
14. Cytotoxic T lymphocyte antigen-4 gene polymorphisms and susceptibility to type 1 autoimmune hepatitis in the Tunisian population. Chaouali M, etal., Genes Dis. 2017 Dec 30;5(3):256-262. doi: 10.1016/j.gendis.2017.12.006. eCollection 2018 Sep.
15. Phenotypic Characteristics of PD-1 and CTLA-4 Expression in Symptomatic Acute Hepatitis A. Cho H, etal., Gut Liver. 2016 Mar;10(2):288-94. doi: 10.5009/gnl14368.
16. CTLA-4 gene polymorphism contributes to the genetic risk for latent autoimmune diabetes in adults. Cosentino A, etal., Ann N Y Acad Sci. 2002 Apr;958:337-40.
17. High incidence of CTLA-4 AA (CT60) polymorphism in renal cell cancer. Cozar JM, etal., Hum Immunol. 2007 Aug;68(8):698-704. Epub 2007 Jun 6.
18. Prevention of renal damage in murine lupus nephritis by CTLA-4Ig and cyclophosphamide. Cunnane G, etal., Arthritis Rheum. 2004 May;50(5):1539-48.
19. Soluble CTLA-4 receptor an immunological marker of Graves' disease and severity of ophthalmopathy is associated with CTLA-4 Jo31 and CT60 gene polymorphisms. Daroszewski J, etal., Eur J Endocrinol. 2009 Nov;161(5):787-93. doi: 10.1530/EJE-09-0600. Epub 2009 Sep 4.
20. Immune-mediated inhibition of metastases after treatment with local radiation and CTLA-4 blockade in a mouse model of breast cancer. Demaria S, etal., Clin Cancer Res. 2005 Jan 15;11(2 Pt 1):728-34.
21. CTLA4-IgG reverses asthma manifestations in a mild but not in a more "severe" ongoing murine model. Deurloo DT, etal., Am J Respir Cell Mol Biol. 2001 Dec;25(6):751-60.
22. CD28/CTLA4 double deficient mice demonstrate crucial role for B7 co-stimulation in the induction of allergic lower airways disease. Deurloo DT, etal., Clin Exp Allergy. 2003 Sep;33(9):1297-304.
23. CTLA-4 gene polymorphism is associated with predisposition to coeliac disease. Djilali-Saiah I, etal., Gut 1998 Aug;43(2):187-9.
24. CD4+/CD25+ cells in systemic inflammation in COPD. Domagala-Kulawik J, etal., Scand J Immunol. 2011 Jan;73(1):59-65. doi: 10.1111/j.1365-3083.2010.02474.x.
25. Cytotoxic T-lymphocyte-associated antigen-4 single nucleotide polymorphisms and haplotypes in primary biliary cirrhosis. Donaldson P, etal., Clin Gastroenterol Hepatol. 2007 Jun;5(6):755-60. doi: 10.1016/j.cgh.2007.02.012. Epub 2007 May 7.
26. Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto's thyroiditis and Addison's disease. Donner H, etal., J Clin Endocrinol Metab 1997 Dec;82(12):4130-2.
27. Influence of CTLA4 haplotypes on susceptibility and some extraglandular manifestations in primary Sjogren's syndrome. Downie-Doyle S, etal., Arthritis Rheum. 2006 Aug;54(8):2434-40.
28. Cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) in isolated vitiligo: a genotype-phenotype correlation. Dwivedi M, etal., Pigment Cell Melanoma Res. 2011 Aug;24(4):737-40. doi: 10.1111/j.1755-148X.2011.00892.x.
29. Circulating soluble CTLA4 (sCTLA4) is elevated in patients with breast cancer. Erfani N, etal., Cancer Invest. 2010 Oct;28(8):828-32. doi: 10.3109/07357901003630934.
30. Association of the T-cell regulatory gene CTLA4 with Graves' disease and autoimmune thyroid disease in the Japanese. Furugaki K, etal., J Hum Genet. 2004;49(3):166-8. Epub 2004 Feb 20.
31. Differential effects of B7-1 blockade in the rat experimental autoimmune encephalomyelitis model. Gallon L, etal., J Immunol. 1997 Nov 1;159(9):4212-6.
32. Polymorphisms in cytotoxic T lymphocyte associated antigen-4 influence the rate of acute rejection after renal transplantation in 167 Chinese recipients. Gao JW, etal., Transpl Immunol. 2012 Jun;26(4):207-11. doi: 10.1016/j.trim.2012.02.005. Epub 2012 Mar 6.
33. Coding sequence 1 and promoter single nucleotide polymorphisms in the CTLA-4 gene in Wegener's granulomatosis. Giscombe R, etal., J Rheumatol. 2002 May;29(5):950-3.
34. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
35. Multiple sclerosis and the CTLA4 autoimmunity polymorphism CT60: no association in patients from Germany, Hungary and Poland. Greve B, etal., Mult Scler. 2008 Mar;14(2):153-8. Epub 2007 Oct 17.
36. Simultaneous blockade of co-stimulatory signals, CD28 and ICOS, induced a stable tolerance in rat heart transplantation. Guo L, etal., Transpl Immunol. 2003 Oct-Nov;12(1):41-8.
37. The shared CTLA4-ICOS risk locus in celiac disease, IgA deficiency and common variable immunodeficiency. Haimila K, etal., Genes Immun. 2009 Mar;10(2):151-61. doi: 10.1038/gene.2008.89. Epub 2008 Nov 20.
38. The common -318C/T polymorphism in the promoter region of CTLA4 gene is associated with reduced risk of ophthalmopathy in Chinese Graves' patients. Han SZ, etal., Int J Immunogenet. 2006 Aug;33(4):281-7.
39. Cytotoxic T-lymphocyte antigen-4 (CTLA-4) exon 1 polymorphism affects lymphocyte profiles in bronchoalveolar lavage of patients with sarcoidosis. Handa T, etal., Sarcoidosis Vasc Diffuse Lung Dis. 2003 Oct;20(3):190-6.
40. CTLA4 promoter and exon 1 dimorphisms in multiple sclerosis. Harbo HF, etal., Tissue Antigens 1999 Jan;53(1):106-10.
41. No evidence for allelic association of a human CTLA-4 promoter polymorphism with autoimmune thyroid disease in either population-based case-control or family-based studies. Heward JM, etal., Clin Endocrinol (Oxf). 1998 Sep;49(3):331-4.
42. The development of Graves' disease and the CTLA-4 gene on chromosome 2q33. Heward JM, etal., J Clin Endocrinol Metab. 1999 Jul;84(7):2398-401.
43. Targeting of CD25 and glucocorticoid-induced TNF receptor family-related gene-expressing T cells differentially modulates asthma risk in offspring of asthmatic and normal mother mice. Hubeau C, etal., J Immunol. 2007 Feb 1;178(3):1477-87.
44. A pilot study on cytotoxic T lymphocyte-4 gene polymorphisms in urinary schistosomiasis. Idris ZM, etal., Genet Test Mol Biomarkers. 2012 Jun;16(6):488-92. doi: 10.1089/gtmb.2011.0209. Epub 2012 Jan 30.
45. The association of CTLA4 polymorphism with type 1 diabetes is concentrated in patients complicated with autoimmune thyroid disease: a multicenter collaborative study in Japan. Ikegami H, etal., J Clin Endocrinol Metab. 2006 Mar;91(3):1087-92. Epub 2005 Dec 13.
46. Distribution of CTLA-4 polymorphisms in allergic asthma. Jasek M, etal., Int Arch Allergy Immunol. 2006;141(3):223-9. Epub 2006 Aug 22.
47. Polymorphisms within the CTLA4 gene are associated with infant atopic dermatitis. Jones G, etal., Br J Dermatol. 2006 Mar;154(3):467-71.
48. CT60 and +49 polymorphisms of CTLA 4 are associated with ANCA-positive small vessel vasculitis. Kamesh L, etal., Rheumatology (Oxford). 2009 Dec;48(12):1502-5. doi: 10.1093/rheumatology/kep280. Epub 2009 Oct 8.
49. The CTLA-4 gene polymorphisms are associated with CTLA-4 protein expression levels in multiple sclerosis patients and with susceptibility to disease. Karabon L, etal., Immunology. 2009 Sep;128(1 Suppl):e787-96. doi: 10.1111/j.1365-2567.2009.03083.x. Epub 2009 Feb 17.
50. Differences in the contribution of the CTLA4 gene to susceptibility to fulminant and type 1A diabetes in Japanese patients. Kawasaki E, etal., Diabetes Care. 2008 Aug;31(8):1608-10. Epub 2008 Apr 28.
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PMID:22262842   PMID:22271879   PMID:22307437   PMID:22318401   PMID:22340049   PMID:22342451   PMID:22354566   PMID:22359319   PMID:22376040   PMID:22414241   PMID:22493691   PMID:22497911  
PMID:22547705   PMID:22574131   PMID:22579879   PMID:22699762   PMID:22707194   PMID:22711308   PMID:22718509   PMID:22722994   PMID:22723841   PMID:22727980   PMID:22733023   PMID:22753931  
PMID:22783574   PMID:22811616   PMID:22836632   PMID:22844542   PMID:22902304   PMID:22905924   PMID:22917707   PMID:22922453   PMID:22923220   PMID:22932817   PMID:22951729   PMID:22964358  
PMID:22968483   PMID:22989439   PMID:23009570   PMID:23010350   PMID:23010434   PMID:23018253   PMID:23023383   PMID:23039885   PMID:23049754   PMID:23138463   PMID:23163888   PMID:23232526  
PMID:23246583   PMID:23252863   PMID:23254121   PMID:23261408   PMID:23261825   PMID:23264071   PMID:23264102   PMID:23289635   PMID:23300559   PMID:23323522   PMID:23354631   PMID:23359812  
PMID:23367498   PMID:23372431   PMID:23372701   PMID:23400950   PMID:23411043   PMID:23413900   PMID:23413908   PMID:23432692   PMID:23448385   PMID:23480667   PMID:23551963   PMID:23597029  
PMID:23597501   PMID:23613833   PMID:23628397   PMID:23634660   PMID:23661460   PMID:23661465   PMID:23666060   PMID:23669295   PMID:23677500   PMID:23703660   PMID:23725008   PMID:23739065  
PMID:23745791   PMID:23756164   PMID:23770251   PMID:23782302   PMID:23802171   PMID:23829277   PMID:23830732   PMID:23851140   PMID:23851684   PMID:23860622   PMID:23900675   PMID:23922195  
PMID:23936412   PMID:23936819   PMID:23944755   PMID:23973330   PMID:23975748   PMID:23986795   PMID:24014088   PMID:24015180   PMID:24023266   PMID:24028204   PMID:24057239   PMID:24078408  
PMID:24083425   PMID:24085454   PMID:24103478   PMID:24107912   PMID:24122201   PMID:24126947   PMID:24173147   PMID:24201079   PMID:24205212   PMID:24212676   PMID:24228119   PMID:24269013  
PMID:24270470   PMID:24283754   PMID:24298899   PMID:24307627   PMID:24313821   PMID:24317815   PMID:24356554   PMID:24364045   PMID:24373506   PMID:24374044   PMID:24376736   PMID:24382279  
PMID:24390231   PMID:24390342   PMID:24390983   PMID:24400885   PMID:24424272   PMID:24465825   PMID:24493286   PMID:24498648   PMID:24515439   PMID:24517008   PMID:24530750   PMID:24572742  
PMID:24605322   PMID:24611333   PMID:24629822   PMID:24631737   PMID:24656396   PMID:24658432   PMID:24665874   PMID:24697361   PMID:24710335   PMID:24712845   PMID:24716930   PMID:24729087  
PMID:24758310   PMID:24801647   PMID:24892807   PMID:24928993   PMID:24934372   PMID:24940764   PMID:24991555   PMID:25000484   PMID:25003519   PMID:25005490   PMID:25016259   PMID:25099367  
PMID:25128482   PMID:25185645   PMID:25213377   PMID:25219326   PMID:25230787   PMID:25236862   PMID:25241761   PMID:25267951   PMID:25299395   PMID:25326706   PMID:25347945   PMID:25356901  
PMID:25367873   PMID:25382658   PMID:25383768   PMID:25409260   PMID:25542810   PMID:25615025   PMID:25626682   PMID:25632005   PMID:25643856   PMID:25645050   PMID:25667935   PMID:25689638  
PMID:25695113   PMID:25832655   PMID:25841352   PMID:25906694   PMID:25936345   PMID:25940108   PMID:25942345   PMID:25981560   PMID:25998553   PMID:26003188   PMID:26013045   PMID:26051683  
PMID:26079279   PMID:26110267   PMID:26132739   PMID:26134222   PMID:26134669   PMID:26176417   PMID:26204230   PMID:26206937   PMID:26209749   PMID:26261646   PMID:26272303   PMID:26325034  
PMID:26332491   PMID:26364516   PMID:26371815   PMID:26373706   PMID:26379408   PMID:26385826   PMID:26401079   PMID:26403483   PMID:26408701   PMID:26409459   PMID:26415372   PMID:26478010  
PMID:26546236   PMID:26582004   PMID:26644313   PMID:26656450   PMID:26709093   PMID:26715621   PMID:26752000   PMID:26782401   PMID:26782543   PMID:26819049   PMID:26823853   PMID:26899867  
PMID:26918337   PMID:26922327   PMID:26963610   PMID:26979751   PMID:26994388   PMID:27007547   PMID:27050369   PMID:27081086   PMID:27102614   PMID:27108398   PMID:27111218   PMID:27118383  
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PMID:27412943   PMID:27424137   PMID:27480842   PMID:27498821   PMID:27601670   PMID:27638540   PMID:27644617   PMID:27655434   PMID:27808571   PMID:27810496   PMID:27811020   PMID:27866241  
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PMID:28101800   PMID:28112181   PMID:28159733   PMID:28190271   PMID:28220572   PMID:28224680   PMID:28251903   PMID:28274366   PMID:28302200   PMID:28333403   PMID:28349816   PMID:28384040  
PMID:28416762   PMID:28423034   PMID:28449371   PMID:28484017   PMID:28488141   PMID:28497847   PMID:28503213   PMID:28544686   PMID:28601686   PMID:28618769   PMID:28642883   PMID:28674083  
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PMID:29093229   PMID:29104093   PMID:29146617   PMID:29150430   PMID:29167005   PMID:29174716   PMID:29250672   PMID:29251582   PMID:29264740   PMID:29270752   PMID:29305257   PMID:29305966  
PMID:29330115   PMID:29335768   PMID:29359792   PMID:29374027   PMID:29409002   PMID:29461867   PMID:29476189   PMID:29490989   PMID:29511375   PMID:29528580   PMID:29539619   PMID:29603038  
PMID:29656892   PMID:29672601   PMID:29675891   PMID:29697355   PMID:29743138   PMID:29786112   PMID:29793878   PMID:29794444   PMID:29848573   PMID:29850619   PMID:29859273   PMID:29943071  
PMID:29970719   PMID:29973665   PMID:29979892   PMID:29992636   PMID:29995780   PMID:30009380   PMID:30024513   PMID:30048690   PMID:30054281   PMID:30078171   PMID:30087255   PMID:30196822  
PMID:30213296   PMID:30223781   PMID:30251665   PMID:30291219   PMID:30301533   PMID:30310101   PMID:30311027   PMID:30319055   PMID:30334961   PMID:30355938   PMID:30366049   PMID:30368866  
PMID:30378264   PMID:30465728   PMID:30484986   PMID:30530390   PMID:30539855   PMID:30578376   PMID:30622243   PMID:30649767   PMID:30771152   PMID:30888206   PMID:30910862   PMID:30921471  
PMID:30955284   PMID:30988065   PMID:31061392   PMID:31094250   PMID:31138782   PMID:31156616   PMID:31173374   PMID:31265893   PMID:31275310   PMID:31300681   PMID:31335675   PMID:31340988  
PMID:31375756   PMID:31442916   PMID:31448426   PMID:31466995   PMID:31473094   PMID:31524022   PMID:31590057   PMID:31609157   PMID:31620907   PMID:31697809   PMID:31698031   PMID:31708111  
PMID:31717574   PMID:31771625   PMID:31792460   PMID:31801640   PMID:31883177   PMID:31907973   PMID:31971458   PMID:31974109   PMID:32044407   PMID:32163016   PMID:32176070   PMID:32189430  
PMID:32248302   PMID:32278632   PMID:32296183   PMID:32319655   PMID:32328064   PMID:32344017   PMID:32371365   PMID:32393998   PMID:32419081   PMID:32488862   PMID:32505900   PMID:32535334  
PMID:32567084   PMID:32577816   PMID:32593225   PMID:32599539   PMID:32605909   PMID:32616425   PMID:32621113   PMID:32621335   PMID:32684057   PMID:32731768   PMID:32732985   PMID:32775467  
PMID:32816895   PMID:32816951   PMID:32856848   PMID:32875738   PMID:32946523   PMID:32955408   PMID:32955488   PMID:32970831   PMID:32991494   PMID:33067256   PMID:33072070   PMID:33090639  
PMID:33122082   PMID:33191838   PMID:33213350   PMID:33226370   PMID:33232723   PMID:33321503   PMID:33327303   PMID:33335608   PMID:33363541   PMID:33389876   PMID:33491603   PMID:33508291  
PMID:33584637   PMID:33588426   PMID:33622891   PMID:33627407   PMID:33627780   PMID:33668701   PMID:33710794   PMID:33717091   PMID:33734490   PMID:33783613   PMID:33788257   PMID:33796885  
PMID:33802979   PMID:33819967   PMID:33847778   PMID:33866246   PMID:33900894   PMID:33932254   PMID:33956248   PMID:33961781   PMID:33965572   PMID:34002648   PMID:34006227   PMID:34008865  
PMID:34088360   PMID:34097529   PMID:34149691   PMID:34157302   PMID:34182077   PMID:34191338   PMID:34191384   PMID:34255356   PMID:34306974   PMID:34324022   PMID:34339393   PMID:34386315  
PMID:34420484   PMID:34446578   PMID:34473430   PMID:34475433   PMID:34526987   PMID:34533895   PMID:34539008   PMID:34622553   PMID:34642316   PMID:34697997   PMID:34705520   PMID:34736521  
PMID:34822071   PMID:34830454   PMID:34848482   PMID:34965018   PMID:35003894   PMID:35020557   PMID:35032188   PMID:35063794   PMID:35069536   PMID:35109826   PMID:35130554   PMID:35150042  
PMID:35254172   PMID:35271496   PMID:35365357   PMID:35435327   PMID:35491430   PMID:35522861   PMID:35524382   PMID:35525950   PMID:35607764   PMID:35656856   PMID:35692146   PMID:35759759  
PMID:35843097   PMID:35893056   PMID:35940545   PMID:36029505   PMID:36104728   PMID:36163113   PMID:36172747   PMID:36197228   PMID:36273440   PMID:36308182   PMID:36443461   PMID:36476907  
PMID:36597619   PMID:36622793   PMID:36652567   PMID:36724016   PMID:36741403   PMID:36764830   PMID:36840462   PMID:36907978   PMID:36918273   PMID:37042938   PMID:37061279   PMID:37122695  
PMID:37161048   PMID:37197667   PMID:37237069   PMID:37329551   PMID:37349339   PMID:37406177   PMID:37410805   PMID:37421985   PMID:37435729   PMID:37440667   PMID:37453913   PMID:37466609  
PMID:37495903   PMID:37497212   PMID:37679967   PMID:37740092   PMID:37776850   PMID:37932534   PMID:38042220   PMID:38055819   PMID:38066340   PMID:38180994   PMID:38417442   PMID:38520576  
PMID:38536023   PMID:38652350   PMID:38723011   PMID:38809650   PMID:38852289   PMID:38867048   PMID:38940594   PMID:38955918   PMID:39097285   PMID:39142493   PMID:39340674   PMID:39397428  
PMID:39456030  


Genomics

Comparative Map Data
CTLA4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382203,867,771 - 203,873,965 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2203,853,888 - 203,873,965 (+)EnsemblGRCh38hg38GRCh38
GRCh372204,732,494 - 204,738,688 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362204,440,754 - 204,446,928 (+)NCBINCBI36Build 36hg18NCBI36
Build 342204,558,016 - 204,564,189NCBI
Celera2198,487,330 - 198,493,462 (+)NCBICelera
Cytogenetic Map2q33.2NCBI
HuRef2196,579,809 - 196,585,939 (+)NCBIHuRef
CHM1_12204,739,066 - 204,745,196 (+)NCBICHM1_1
T2T-CHM13v2.02204,349,656 - 204,355,847 (+)NCBIT2T-CHM13v2.0
Ctla4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39160,948,184 - 60,954,991 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl160,926,159 - 60,954,991 (+)EnsemblGRCm39 Ensembl
GRCm38160,909,025 - 60,915,832 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl160,887,000 - 60,915,832 (+)EnsemblGRCm38mm10GRCm38
MGSCv37160,965,869 - 60,972,674 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36160,853,571 - 60,860,376 (+)NCBIMGSCv36mm8
Celera161,424,040 - 61,430,841 (+)NCBICelera
Cytogenetic Map1C2NCBI
cM Map130.58NCBI
Ctla4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8969,812,859 - 69,819,959 (+)NCBIGRCr8
mRatBN7.2962,318,874 - 62,325,978 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl962,319,312 - 62,324,963 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx970,821,431 - 70,826,972 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0975,937,041 - 75,942,584 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0974,255,613 - 74,261,154 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0967,699,397 - 67,706,068 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl967,699,379 - 67,706,065 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0967,509,236 - 67,515,681 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4959,495,773 - 59,501,300 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1959,642,754 - 59,648,282 (+)NCBI
Celera959,742,231 - 59,747,758 (+)NCBICelera
Cytogenetic Map9q32NCBI
Ctla4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545711,028,698 - 11,073,460 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545711,028,707 - 11,034,898 (-)NCBIChiLan1.0ChiLan1.0
CTLA4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213106,472,380 - 106,478,722 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B106,487,372 - 106,493,704 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B91,054,917 - 91,106,234 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B209,239,417 - 209,244,498 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B209,239,417 - 209,244,498 (+)Ensemblpanpan1.1panPan2
CTLA4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13712,647,712 - 12,653,874 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3712,634,563 - 12,653,874 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3713,530,863 - 13,537,025 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03712,584,278 - 12,590,425 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3712,528,644 - 12,590,422 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13712,541,354 - 12,547,516 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03712,504,724 - 12,510,894 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03712,505,745 - 12,511,890 (+)NCBIUU_Cfam_GSD_1.0
Ctla4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303160,849,279 - 160,854,996 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936631484,356 - 489,643 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936631484,356 - 489,643 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CTLA4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15107,282,927 - 107,289,103 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115107,283,081 - 107,288,041 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215118,627,675 - 118,632,732 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CTLA4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11089,637,176 - 89,644,436 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1089,638,314 - 89,642,344 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040109,742,081 - 109,748,529 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ctla4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476512,449,205 - 12,454,324 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476512,449,205 - 12,454,324 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CTLA4
209 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005214.5(CTLA4):c.*1148+236G>A single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001515646]|Celiac disease, susceptibility to, 3 [RCV000018430]|Hashimoto thyroiditis, susceptibility to [RCV000018429]|chronic fatigue syndrome with infection-triggered onset [RCV001254798]|not provided [RCV004707853] Chr2:203874196 [GRCh38]
Chr2:204738919 [GRCh37]
Chr2:2q33.2		 risk factor|benign|protective
NM_005214.5(CTLA4):c.420C>A (p.Tyr140Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000529257] Chr2:203870896 [GRCh38]
Chr2:204735619 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.75G>C (p.Leu25=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000537563]|not provided [RCV003736814]|not specified [RCV001573473] Chr2:203868017 [GRCh38]
Chr2:204732740 [GRCh37]
Chr2:2q33.2		 benign
NM_005214.5(CTLA4):c.23G>A (p.Arg8Gln) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000545159] Chr2:203867965 [GRCh38]
Chr2:204732688 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.567+1G>A single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000558959] Chr2:203871488 [GRCh38]
Chr2:204736211 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.49A>G (p.Thr17Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001517779]|Celiac disease, susceptibility to, 3 [RCV000018427]|Hashimoto thyroiditis, susceptibility to [RCV000018423]|Systemic lupus erythematosus, susceptibility to [RCV000018425]|TYPE 1 DIABETES MELLITUS 12, SUSCEPTIBILITY TO [RCV001255201]|Thyroid-associated orbitopathy, susceptibility to [RCV000018424]|not provided [RCV001723578]|not specified [RCV000455037] Chr2:203867991 [GRCh38]
Chr2:203867991..203867992 [GRCh38]
Chr2:204732714 [GRCh37]
Chr2:204732714..204732715 [GRCh37]
Chr2:2q33.2		 risk factor|benign
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q33.2-35(chr2:203010732-214671878)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052607]|See cases [RCV000052607] Chr2:203010732..214671878 [GRCh38]
Chr2:203875455..215536602 [GRCh37]
Chr2:203583700..215244847 [NCBI36]
Chr2:2q33.2-35		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000148290]|Inborn genetic diseases [RCV002515995]|not provided [RCV000788671] Chr2:203870627 [GRCh38]
Chr2:204735350 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.75del (p.Leu28fs) deletion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000148291] Chr2:203868017 [GRCh38]
Chr2:204732740 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.567+5G>C single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000148292] Chr2:203871492 [GRCh38]
Chr2:204736215 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.105C>A (p.Cys35Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000148293] Chr2:203868047 [GRCh38]
Chr2:204732770 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.109+1G>T single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000148294] Chr2:203868052 [GRCh38]
Chr2:204732775 [GRCh37]
Chr2:2q33.2		 pathogenic|likely pathogenic
NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000148295]|not provided [RCV001311981] Chr2:203870684 [GRCh38]
Chr2:204735407 [GRCh37]
Chr2:2q33.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005214.5(CTLA4):c.226C>T (p.Gln76Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001331373] Chr2:203870702 [GRCh38]
Chr2:204735425 [GRCh37]
Chr2:2q33.2		 pathogenic
GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1 copy number loss See cases [RCV000135341] Chr2:195660594..203969488 [GRCh38]
Chr2:196525318..204834211 [GRCh37]
Chr2:196233563..204542456 [NCBI36]
Chr2:2q32.3-33.2		 pathogenic
GRCh38/hg38 2q33.2-33.3(chr2:202631428-204929860)x1 copy number loss See cases [RCV000136892] Chr2:202631428..204929860 [GRCh38]
Chr2:203496151..205794583 [GRCh37]
Chr2:203204396..205502828 [NCBI36]
Chr2:2q33.2-33.3		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 copy number loss See cases [RCV000141076] Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 copy number loss See cases [RCV000143301] Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh37/hg19 2q33.2-33.3(chr2:204032747-205890355)x1 copy number loss See cases [RCV000167569] Chr2:204032747..205890355 [GRCh37]
Chr2:2q33.2-33.3		 likely pathogenic
NM_005214.5(CTLA4):c.60G>A (p.Trp20Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV004725136]|not provided [RCV000274542] Chr2:203868002 [GRCh38]
Chr2:204732725 [GRCh37]
Chr2:2q33.2		 pathogenic|likely pathogenic
NM_005214.5(CTLA4):c.397C>A (p.Leu133Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001368284] Chr2:203870873 [GRCh38]
Chr2:204735596 [GRCh37]
Chr2:2q33.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_005214.5(CTLA4):c.407C>T (p.Pro136Leu) single nucleotide variant not provided [RCV002293040] Chr2:203870883 [GRCh38]
Chr2:204735606 [GRCh37]
Chr2:2q33.2		 likely pathogenic
NM_005214.5(CTLA4):c.412C>A (p.Pro138Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000585701] Chr2:203870888 [GRCh38]
Chr2:204735611 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.209G>A (p.Arg70Gln) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001208574]|Inherited Immunodeficiency Diseases [RCV001027565]|not provided [RCV004697021] Chr2:203870685 [GRCh38]
Chr2:204735408 [GRCh37]
Chr2:2q33.2		 likely pathogenic|uncertain significance
GRCh37/hg19 2q33.2-33.3(chr2:204516055-205732024)x3 copy number gain See cases [RCV000449098] Chr2:204516055..205732024 [GRCh37]
Chr2:2q33.2-33.3		 uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_005214.5(CTLA4):c.410C>T (p.Pro137Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000652446]|Celiac disease, susceptibility to, 3 [RCV000768197]|not provided [RCV000498929] Chr2:203870886 [GRCh38]
Chr2:204735609 [GRCh37]
Chr2:2q33.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_005214.5(CTLA4):c.374G>A (p.Gly125Glu) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000555490] Chr2:203870850 [GRCh38]
Chr2:204735573 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.118G>A (p.Val40Met) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000604644]|not provided [RCV000788529] Chr2:203870594 [GRCh38]
Chr2:204735317 [GRCh37]
Chr2:2q33.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005214.5(CTLA4):c.160G>A (p.Ala54Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000615288] Chr2:203870636 [GRCh38]
Chr2:204735359 [GRCh37]
Chr2:2q33.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_005214.5(CTLA4):c.456T>A (p.Ile152=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001860288]|not specified [RCV000611223] Chr2:203870932 [GRCh38]
Chr2:204735655 [GRCh37]
Chr2:2q33.2		 likely benign|uncertain significance
NM_005214.5(CTLA4):c.565A>G (p.Met189Val) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000652443] Chr2:203871485 [GRCh38]
Chr2:204736208 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.457+4A>G single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000652444] Chr2:203870937 [GRCh38]
Chr2:204735660 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.373G>A (p.Gly125Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000652445] Chr2:203870849 [GRCh38]
Chr2:204735572 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.326G>A (p.Gly109Glu) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000652447]|not provided [RCV003437383] Chr2:203870802 [GRCh38]
Chr2:204735525 [GRCh37]
Chr2:2q33.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005214.5(CTLA4):c.4G>T (p.Ala2Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000652448] Chr2:203867946 [GRCh38]
Chr2:204732669 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.372G>A (p.Thr124=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000652449] Chr2:203870848 [GRCh38]
Chr2:204735571 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.214A>C (p.Thr72Pro) single nucleotide variant not provided [RCV000658895] Chr2:203870690 [GRCh38]
Chr2:204735413 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.515C>T (p.Ser172Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002534302]|not provided [RCV000658896] Chr2:203871435 [GRCh38]
Chr2:204736158 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.430G>T (p.Gly144Cys) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000699583] Chr2:203870906 [GRCh38]
Chr2:204735629 [GRCh37]
Chr2:2q33.2		 uncertain significance
NC_000002.12:g.203870586_203870594del deletion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000686353] Chr2:203870585..203870593 [GRCh38]
Chr2:204735308..204735316 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.268A>G (p.Met90Val) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000689079] Chr2:203870744 [GRCh38]
Chr2:204735467 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.211del (p.Arg70_Val71insTer) deletion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000694344] Chr2:203870685 [GRCh38]
Chr2:204735408 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.436_437delinsCT (p.Gly146Leu) indel Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000692898] Chr2:203870912..203870913 [GRCh38]
Chr2:204735635..204735636 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.422T>C (p.Leu141Pro) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000693626] Chr2:203870898 [GRCh38]
Chr2:204735621 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.266A>G (p.Tyr89Cys) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000693627] Chr2:203870742 [GRCh38]
Chr2:204735465 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.410C>A (p.Pro137Gln) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000695947] Chr2:203870886 [GRCh38]
Chr2:204735609 [GRCh37]
Chr2:2q33.2		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
Single allele deletion Pulmonary arterial hypertension [RCV001004033] Chr2:201106432..204901548 [GRCh37]
Chr2:2q33.1-33.3		 pathogenic
Single allele deletion Pulmonary arterial hypertension [RCV001004034] Chr2:202772963..205218660 [GRCh37]
Chr2:2q33.1-33.3		 pathogenic
NM_005214.5(CTLA4):c.501T>C (p.Leu167=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002568901]|not provided [RCV001531947] Chr2:203871421 [GRCh38]
Chr2:204736144 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.392T>C (p.Val131Ala) single nucleotide variant not provided [RCV000762312] Chr2:203870868 [GRCh38]
Chr2:204735591 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.468G>A (p.Pro156=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002065585] Chr2:203871388 [GRCh38]
Chr2:204736111 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.177G>A (p.Glu59=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001488120] Chr2:203870653 [GRCh38]
Chr2:204735376 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.62C>G (p.Pro21Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001039088] Chr2:203868004 [GRCh38]
Chr2:204732727 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.436G>A (p.Gly146Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001053629]|CTLA4-related disorder [RCV004731084]|Inborn genetic diseases [RCV001266414] Chr2:203870912 [GRCh38]
Chr2:204735635 [GRCh37]
Chr2:2q33.2		 pathogenic|likely pathogenic|uncertain significance
NM_005214.5(CTLA4):c.4_5insGTTGG (p.Ala2fs) insertion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001056793] Chr2:203867943..203867944 [GRCh38]
Chr2:204732666..204732667 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.349C>T (p.Gln117Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001057860] Chr2:203870825 [GRCh38]
Chr2:204735548 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.94C>T (p.Pro32Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001060913] Chr2:203868036 [GRCh38]
Chr2:204732759 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.457G>A (p.Asp153Asn) single nucleotide variant Celiac disease, susceptibility to, 3 [RCV002061137]|not provided [RCV000788196] Chr2:203870933 [GRCh38]
Chr2:204735656 [GRCh37]
Chr2:2q33.2		 pathogenic|uncertain significance
NM_005214.5(CTLA4):c.615C>G (p.Pro205=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000917228]|Inborn genetic diseases [RCV004029406] Chr2:203872755 [GRCh38]
Chr2:204737478 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.411G>A (p.Pro137=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000977558] Chr2:203870887 [GRCh38]
Chr2:204735610 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.173G>C (p.Cys58Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000797058] Chr2:203870649 [GRCh38]
Chr2:204735372 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.81dup (p.Leu28fs) duplication Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000798587] Chr2:203868017..203868018 [GRCh38]
Chr2:204732740..204732741 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.487C>G (p.Leu163Val) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000794926] Chr2:203871407 [GRCh38]
Chr2:204736130 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.394G>A (p.Glu132Lys) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000819799] Chr2:203870870 [GRCh38]
Chr2:204735593 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.257C>T (p.Ala86Val) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000819468]|Inborn genetic diseases [RCV001265905]|not provided [RCV004720010] Chr2:203870733 [GRCh38]
Chr2:204735456 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.384C>G (p.Ile128Met) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000820719] Chr2:203870860 [GRCh38]
Chr2:204735583 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.352G>C (p.Gly118Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000798137]|not provided [RCV003332254] Chr2:203870828 [GRCh38]
Chr2:204735551 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.374dup (p.Leu126fs) duplication not provided [RCV001091184] Chr2:203870847..203870848 [GRCh38]
Chr2:204735570..204735571 [GRCh37]
Chr2:2q33.2		 pathogenic
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
NM_005214.5(CTLA4):c.37_53del (p.Leu13fs) deletion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000800177] Chr2:203867976..203867992 [GRCh38]
Chr2:204732699..204732715 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.-4A>G single nucleotide variant not provided [RCV000788403] Chr2:203867939 [GRCh38]
Chr2:204732662 [GRCh37]
Chr2:2q33.2		 uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000850251]|not provided [RCV001311982] Chr2:203870892 [GRCh38]
Chr2:204735615 [GRCh37]
Chr2:2q33.2		 pathogenic|conflicting interpretations of pathogenicity
NM_005214.5(CTLA4):c.224G>A (p.Arg75Gln) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001213474] Chr2:203870700 [GRCh38]
Chr2:204735423 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.457+6C>G single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001224637] Chr2:203870939 [GRCh38]
Chr2:204735662 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.553T>A (p.Ser185Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001237209] Chr2:203871473 [GRCh38]
Chr2:204736196 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.439A>G (p.Thr147Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001237585] Chr2:203870915 [GRCh38]
Chr2:204735638 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.380A>G (p.Tyr127Cys) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001220803] Chr2:203870856 [GRCh38]
Chr2:204735579 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.255T>G (p.Cys85Trp) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001225872] Chr2:203870731 [GRCh38]
Chr2:204735454 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.223C>T (p.Arg75Trp) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001215551] Chr2:203870699 [GRCh38]
Chr2:204735422 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.631T>C (p.Cys211Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV004813456] Chr2:203872771 [GRCh38]
Chr2:204737494 [GRCh37]		 uncertain significance
NM_005214.5(CTLA4):c.155G>A (p.Gly52Asp) single nucleotide variant not provided [RCV001091183] Chr2:203870631 [GRCh38]
Chr2:204735354 [GRCh37]
Chr2:2q33.2		 uncertain significance
NC_000002.11:g.(?_201943606)_(204824322_?)dup duplication Autoimmune lymphoproliferative syndrome type 2B [RCV003105677]|Immunodeficiency, common variable, 1 [RCV003122553] Chr2:201943606..204824322 [GRCh37]
Chr2:2q33.1-33.2		 uncertain significance
NM_005214.5(CTLA4):c.117C>T (p.His39=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV000897723]|CTLA4-related disorder [RCV003910696] Chr2:203870593 [GRCh38]
Chr2:204735316 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.198C>A (p.Ala66=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003586242] Chr2:203870674 [GRCh38]
Chr2:204735397 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.115_139delinsGAAAA (p.His39fs) indel Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001244418] Chr2:203870591..203870615 [GRCh38]
Chr2:204735314..204735338 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.458-1G>C single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001239952] Chr2:203871377 [GRCh38]
Chr2:204736100 [GRCh37]
Chr2:2q33.2		 pathogenic|likely pathogenic
NM_005214.5(CTLA4):c.216A>G (p.Thr72=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001447496] Chr2:203870692 [GRCh38]
Chr2:204735415 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.545C>G (p.Thr182Arg) single nucleotide variant not provided [RCV000997648] Chr2:203871465 [GRCh38]
Chr2:204736188 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.187C>T (p.Pro63Ser) single nucleotide variant not provided [RCV004814681] Chr2:203870663 [GRCh38]
Chr2:204735386 [GRCh37]		 uncertain significance
NM_005214.5(CTLA4):c.346del (p.Ile116fs) deletion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV004799808] Chr2:203870822 [GRCh38]
Chr2:204735545 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.93C>T (p.Ile31=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003586246] Chr2:203868035 [GRCh38]
Chr2:204732758 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.109+76A>G single nucleotide variant not provided [RCV001621201]|not specified [RCV003399429] Chr2:203868127 [GRCh38]
Chr2:204732850 [GRCh37]
Chr2:2q33.2		 benign
NM_005214.5(CTLA4):c.221T>C (p.Leu74Pro) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV004801490] Chr2:203870697 [GRCh38]
Chr2:204735420 [GRCh37]
Chr2:2q33.2		 likely pathogenic
NC_000002.12:g.203867482_203869297del deletion Inherited Immunodeficiency Diseases [RCV001027562] Chr2:203867482..203869297 [GRCh38]
Chr2:204732205..204734020 [GRCh37]
Chr2:2q33.2		 uncertain significance
NC_000002.12:g.203870597_203875386del deletion Inherited Immunodeficiency Diseases [RCV001027563] Chr2:203870597..203875386 [GRCh38]
Chr2:204735320..204740109 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.127C>G (p.Pro43Ala) single nucleotide variant Inherited Immunodeficiency Diseases [RCV001027564] Chr2:203870603 [GRCh38]
Chr2:204735326 [GRCh37]
Chr2:2q33.2		 likely pathogenic
NC_000002.12:g.(?_203866796)_(203959619_?)del deletion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001031085]|Immunodeficiency, common variable, 1 [RCV001381471] Chr2:204731519..204824342 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.458-1G>T single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001046603] Chr2:203871377 [GRCh38]
Chr2:204736100 [GRCh37]
Chr2:2q33.2		 pathogenic
NC_000002.12:g.203867500T>A single nucleotide variant not provided [RCV001671686] Chr2:203867500 [GRCh38]
Chr2:204732223 [GRCh37]
Chr2:2q33.2		 benign
NC_000002.12:g.(?_203444868)_(203957883_?)del deletion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001033864] Chr2:204309591..204822606 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.665T>A (p.Ile222Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001219777] Chr2:203872805 [GRCh38]
Chr2:204737528 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.211G>T (p.Val71Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001041748] Chr2:203870687 [GRCh38]
Chr2:204735410 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.632G>A (p.Cys211Tyr) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001237117]|Inborn genetic diseases [RCV002567908] Chr2:203872772 [GRCh38]
Chr2:204737495 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.410C>G (p.Pro137Arg) single nucleotide variant Inherited Immunodeficiency Diseases [RCV001027566] Chr2:203870886 [GRCh38]
Chr2:204735609 [GRCh37]
Chr2:2q33.2		 likely pathogenic
NM_005214.5(CTLA4):c.487del (p.Leu163fs) deletion not provided [RCV001091185] Chr2:203871406 [GRCh38]
Chr2:204736129 [GRCh37]
Chr2:2q33.2		 likely pathogenic
NM_005214.5(CTLA4):c.109+1G>A single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001039297] Chr2:203868052 [GRCh38]
Chr2:204732775 [GRCh37]
Chr2:2q33.2		 likely pathogenic
NM_005214.5(CTLA4):c.567+3G>A single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001236125] Chr2:203871490 [GRCh38]
Chr2:204736213 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.311C>T (p.Thr104Met) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001217201] Chr2:203870787 [GRCh38]
Chr2:204735510 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.260del (p.Ala87fs) deletion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001059257] Chr2:203870736 [GRCh38]
Chr2:204735459 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.309C>T (p.Cys103=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001056934] Chr2:203870785 [GRCh38]
Chr2:204735508 [GRCh37]
Chr2:2q33.2		 likely benign|uncertain significance
NM_005214.5(CTLA4):c.531T>A (p.Tyr177Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001034991] Chr2:203871451 [GRCh38]
Chr2:204736174 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.172_175del (p.Cys58fs) microsatellite Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001267755] Chr2:203870644..203870647 [GRCh38]
Chr2:204735367..204735370 [GRCh37]
Chr2:2q33.2		 pathogenic
GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1 copy number loss not provided [RCV001258576] Chr2:204445619..212580788 [GRCh37]
Chr2:2q33.2-34		 pathogenic
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
NM_005214.5(CTLA4):c.539T>C (p.Leu180Pro) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001267756] Chr2:203871459 [GRCh38]
Chr2:204736182 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.467C>T (p.Pro156Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001337883] Chr2:203871387 [GRCh38]
Chr2:204736110 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.68C>T (p.Thr23Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001349187] Chr2:203868010 [GRCh38]
Chr2:204732733 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.567G>A (p.Met189Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001341151] Chr2:203871487 [GRCh38]
Chr2:204736210 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.626C>G (p.Pro209Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001368939] Chr2:203872766 [GRCh38]
Chr2:204737489 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.312G>A (p.Thr104=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001313368] Chr2:203870788 [GRCh38]
Chr2:204735511 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.22C>T (p.Arg8Trp) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001299100]|CTLA4-related disorder [RCV004757397] Chr2:203867964 [GRCh38]
Chr2:204732687 [GRCh37]
Chr2:2q33.2		 uncertain significance
GRCh37/hg19 2q33.2-33.3(chr2:204312776-208235204)x3 copy number gain not provided [RCV001270640] Chr2:204312776..208235204 [GRCh37]
Chr2:2q33.2-33.3		 uncertain significance
NM_005214.5(CTLA4):c.598G>T (p.Val200Phe) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001364552] Chr2:203872738 [GRCh38]
Chr2:204737461 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.529dup (p.Tyr177fs) duplication Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001314714]|Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome [RCV004813164] Chr2:203871442..203871443 [GRCh38]
Chr2:204736165..204736166 [GRCh37]
Chr2:2q33.2		 likely pathogenic|uncertain significance
NM_005214.5(CTLA4):c.516G>A (p.Ser172=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001481338] Chr2:203871436 [GRCh38]
Chr2:204736159 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.*375G>A single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001515337] Chr2:203873187 [GRCh38]
Chr2:204737910 [GRCh37]
Chr2:2q33.2		 benign
NM_005214.5(CTLA4):c.30G>A (p.Lys10=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001429264] Chr2:203867972 [GRCh38]
Chr2:204732695 [GRCh37]
Chr2:2q33.2		 likely benign
NC_000002.12:g.203867624C>T single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001518520]|not provided [RCV001724332] Chr2:203867624 [GRCh38]
Chr2:204732347 [GRCh37]
Chr2:2q33.2		 benign
NM_005214.5(CTLA4):c.171G>A (p.Val57=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001432459] Chr2:203870647 [GRCh38]
Chr2:204735370 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.110-7A>G single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001399418] Chr2:203870579 [GRCh38]
Chr2:204735302 [GRCh37]
Chr2:2q33.2		 likely benign
NC_000002.11:g.(?_204731519)_(204732794_?)del deletion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001384563] Chr2:204731519..204732794 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.457+154G>T single nucleotide variant not provided [RCV001670798] Chr2:203871087 [GRCh38]
Chr2:204735810 [GRCh37]
Chr2:2q33.2		 benign
NM_005214.5(CTLA4):c.159C>T (p.Ile53=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001497186] Chr2:203870635 [GRCh38]
Chr2:204735358 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.42C>T (p.Asn14=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001399090] Chr2:203867984 [GRCh38]
Chr2:204732707 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.435C>T (p.Asn145=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001401538] Chr2:203870911 [GRCh38]
Chr2:204735634 [GRCh37]
Chr2:2q33.2		 likely benign
NC_000002.12:g.203866796C>T single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001515817] Chr2:203866796 [GRCh38]
Chr2:204731519 [GRCh37]
Chr2:2q33.2		 benign
NM_005214.5(CTLA4):c.457+12C>T single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001489650] Chr2:203870945 [GRCh38]
Chr2:204735668 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.619A>G (p.Thr207Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003748355]|not provided [RCV001772824] Chr2:203872759 [GRCh38]
Chr2:204737482 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.136G>A (p.Val46Ile) single nucleotide variant not provided [RCV001761240] Chr2:203870612 [GRCh38]
Chr2:204735335 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.496A>G (p.Ile166Val) single nucleotide variant not provided [RCV001786634] Chr2:203871416 [GRCh38]
Chr2:204736139 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.371C>T (p.Thr124Met) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003748366]|Inborn genetic diseases [RCV004040987]|not specified [RCV001820590] Chr2:203870847 [GRCh38]
Chr2:204735570 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.265T>C (p.Tyr89His) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001910986]|not provided [RCV003321882] Chr2:203870741 [GRCh38]
Chr2:204735464 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.155G>T (p.Gly52Val) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001914386] Chr2:203870631 [GRCh38]
Chr2:204735354 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.370A>T (p.Thr124Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001950234] Chr2:203870846 [GRCh38]
Chr2:204735569 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.272T>G (p.Met91Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002008820] Chr2:203870748 [GRCh38]
Chr2:204735471 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.141G>A (p.Leu47=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002025345] Chr2:203870617 [GRCh38]
Chr2:204735340 [GRCh37]
Chr2:2q33.2		 likely benign|uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
NM_005214.5(CTLA4):c.522del (p.Leu174fs) deletion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001892697] Chr2:203871442 [GRCh38]
Chr2:204736165 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.137T>C (p.Val46Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001927170] Chr2:203870613 [GRCh38]
Chr2:204735336 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.110-3T>C single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001966291] Chr2:203870583 [GRCh38]
Chr2:204735306 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.352G>A (p.Gly118Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002044292] Chr2:203870828 [GRCh38]
Chr2:204735551 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.596G>A (p.Gly199Glu) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001964770] Chr2:203872736 [GRCh38]
Chr2:204737459 [GRCh37]
Chr2:2q33.2		 uncertain significance
GRCh37/hg19 2q33.1-34(chr2:200851079-209054267) copy number loss not specified [RCV002053275] Chr2:200851079..209054267 [GRCh37]
Chr2:2q33.1-34		 pathogenic
NM_005214.5(CTLA4):c.37_38insCT (p.Leu13fs) insertion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency [RCV001909890] Chr2:203867979..203867980 [GRCh38]
Chr2:204732702..204732703 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.238C>T (p.Gln80Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001997536] Chr2:203870714 [GRCh38]
Chr2:204735437 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.257C>G (p.Ala86Gly) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002009585] Chr2:203870733 [GRCh38]
Chr2:204735456 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.254G>A (p.Cys85Tyr) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001904295] Chr2:203870730 [GRCh38]
Chr2:204735453 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.385T>A (p.Cys129Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001930713] Chr2:203870861 [GRCh38]
Chr2:204735584 [GRCh37]
Chr2:2q33.2		 uncertain significance
NC_000002.11:g.(?_203420070)_(211811277_?)del deletion Primary pulmonary hypertension [RCV002016799] Chr2:203420070..211811277 [GRCh37]
Chr2:2q33.2-34		 uncertain significance
NM_005214.5(CTLA4):c.625C>G (p.Pro209Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001898564] Chr2:203872765 [GRCh38]
Chr2:204737488 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.97G>A (p.Val33Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001991808] Chr2:203868039 [GRCh38]
Chr2:204732762 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.455T>C (p.Ile152Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001992643] Chr2:203870931 [GRCh38]
Chr2:204735654 [GRCh37]
Chr2:2q33.2		 uncertain significance
NC_000002.11:g.(?_201943606)_(204824322_?)del deletion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001950956]|Autoimmune lymphoproliferative syndrome type 2B [RCV001950955]|Immunodeficiency, common variable, 1 [RCV003120780] Chr2:201943606..204824322 [GRCh37]
Chr2:2q33.1-33.2		 pathogenic
NM_005214.5(CTLA4):c.416A>C (p.Tyr139Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001976036] Chr2:203870892 [GRCh38]
Chr2:204735615 [GRCh37]
Chr2:2q33.2		 likely pathogenic|uncertain significance
NM_005214.5(CTLA4):c.463G>A (p.Glu155Lys) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001907281] Chr2:203871383 [GRCh38]
Chr2:204736106 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.71_72del (p.Leu24fs) microsatellite Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001974843] Chr2:203868010..203868011 [GRCh38]
Chr2:204732733..204732734 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.482A>C (p.Asp161Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001957321] Chr2:203871402 [GRCh38]
Chr2:204736125 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.432C>T (p.Gly144=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV001931029] Chr2:203870908 [GRCh38]
Chr2:204735631 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.417C>T (p.Tyr139=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002147608] Chr2:203870893 [GRCh38]
Chr2:204735616 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.457+14T>C single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002085389] Chr2:203870947 [GRCh38]
Chr2:204735670 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.63C>T (p.Pro21=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002167805] Chr2:203868005 [GRCh38]
Chr2:204732728 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.87C>G (p.Leu29=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002153496] Chr2:203868029 [GRCh38]
Chr2:204732752 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.87C>T (p.Leu29=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002095467] Chr2:203868029 [GRCh38]
Chr2:204732752 [GRCh37]
Chr2:2q33.2		 likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_005214.5(CTLA4):c.421C>T (p.Leu141=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002158490] Chr2:203870897 [GRCh38]
Chr2:204735620 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.219G>C (p.Val73=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002158251] Chr2:203870695 [GRCh38]
Chr2:204735418 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.345T>C (p.Thr115=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002200471] Chr2:203870821 [GRCh38]
Chr2:204735544 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.213G>C (p.Val71=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002083053] Chr2:203870689 [GRCh38]
Chr2:204735412 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.588T>C (p.Leu196=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003114761] Chr2:203872728 [GRCh38]
Chr2:204737451 [GRCh37]
Chr2:2q33.2		 likely benign
NC_000002.11:g.(?_204734049)_(204737535_?)del deletion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003116333] Chr2:204734049..204737535 [GRCh37]
Chr2:2q33.2		 pathogenic
NC_000002.11:g.(?_204732666)_(204737535_?)dup duplication Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003116335] Chr2:204732666..204737535 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.347T>A (p.Ile116Asn) single nucleotide variant not provided [RCV003129211] Chr2:203870823 [GRCh38]
Chr2:204735546 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.228G>C (p.Gln76His) single nucleotide variant not specified [RCV003151496] Chr2:203870704 [GRCh38]
Chr2:204735427 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.366_367delinsAT (p.Met122_Asp123delinsIleTyr) indel not provided [RCV002276091] Chr2:203870842..203870843 [GRCh38]
Chr2:204735565..204735566 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.231_297delinsA (p.Gln80_Ser101del) indel Immunodeficiency, common variable, 1 [RCV002463575] Chr2:203870707..203870773 [GRCh38]
Chr2:204735430..204735496 [GRCh37]
Chr2:2q33.2		 likely pathogenic
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34		 pathogenic
NM_005214.5(CTLA4):c.143C>A (p.Ala48Asp) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002296711] Chr2:203870619 [GRCh38]
Chr2:204735342 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.238C>G (p.Gln80Glu) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002295963] Chr2:203870714 [GRCh38]
Chr2:204735437 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.654T>C (p.Tyr218=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002971832] Chr2:203872794 [GRCh38]
Chr2:204737517 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.171G>T (p.Val57=) single nucleotide variant not provided [RCV002512016] Chr2:203870647 [GRCh38]
Chr2:204735370 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.81T>C (p.Phe27=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002974840] Chr2:203868023 [GRCh38]
Chr2:204732746 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.457G>T (p.Asp153Tyr) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002862253] Chr2:203870933 [GRCh38]
Chr2:204735656 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.180T>C (p.Tyr60=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003075322] Chr2:203870656 [GRCh38]
Chr2:204735379 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.173G>T (p.Cys58Phe) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003074922] Chr2:203870649 [GRCh38]
Chr2:204735372 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.216dup (p.Val73fs) duplication Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003016621] Chr2:203870691..203870692 [GRCh38]
Chr2:204735414..204735415 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.364A>G (p.Met122Val) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002615507] Chr2:203870840 [GRCh38]
Chr2:204735563 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.246T>C (p.Thr82=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002796210] Chr2:203870722 [GRCh38]
Chr2:204735445 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.160G>C (p.Ala54Pro) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003055780] Chr2:203870636 [GRCh38]
Chr2:204735359 [GRCh37]
Chr2:2q33.2		 pathogenic|uncertain significance
NM_005214.5(CTLA4):c.304A>G (p.Ile102Val) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002927899] Chr2:203870780 [GRCh38]
Chr2:204735503 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.23G>T (p.Arg8Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002592440] Chr2:203867965 [GRCh38]
Chr2:204732688 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.506C>A (p.Ala169Glu) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002846663] Chr2:203871426 [GRCh38]
Chr2:204736149 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.494G>A (p.Trp165Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003079037] Chr2:203871414 [GRCh38]
Chr2:204736137 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.254G>C (p.Cys85Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003038501] Chr2:203870730 [GRCh38]
Chr2:204735453 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.263C>A (p.Thr88Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003038502] Chr2:203870739 [GRCh38]
Chr2:204735462 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.458-19G>A single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002662609] Chr2:203871359 [GRCh38]
Chr2:204736082 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.597G>T (p.Gly199=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003018348] Chr2:203872737 [GRCh38]
Chr2:204737460 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.308G>A (p.Cys103Tyr) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003053720] Chr2:203870784 [GRCh38]
Chr2:204735507 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.223C>A (p.Arg75=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002875538] Chr2:203870699 [GRCh38]
Chr2:204735422 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.557T>C (p.Leu186Ser) single nucleotide variant Inborn genetic diseases [RCV002984674] Chr2:203871477 [GRCh38]
Chr2:204736200 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.390G>A (p.Lys130=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002593859] Chr2:203870866 [GRCh38]
Chr2:204735589 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.568C>T (p.Leu190=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003059337] Chr2:203872708 [GRCh38]
Chr2:204737431 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.344C>T (p.Thr115Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002982212] Chr2:203870820 [GRCh38]
Chr2:204735543 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.370A>C (p.Thr124Pro) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002651589] Chr2:203870846 [GRCh38]
Chr2:204735569 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.450T>G (p.Tyr150Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003061540] Chr2:203870926 [GRCh38]
Chr2:204735649 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.50C>T (p.Thr17Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003048153] Chr2:203867992 [GRCh38]
Chr2:204732715 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.659T>C (p.Ile220Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002810779] Chr2:203872799 [GRCh38]
Chr2:204737522 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.624G>A (p.Glu208=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002720412] Chr2:203872764 [GRCh38]
Chr2:204737487 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.312G>C (p.Thr104=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003028091] Chr2:203870788 [GRCh38]
Chr2:204735511 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.460C>A (p.Pro154Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002937498] Chr2:203871380 [GRCh38]
Chr2:204736103 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.110-16G>T single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002942279] Chr2:203870570 [GRCh38]
Chr2:204735293 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.430G>A (p.Gly144Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003052416]|not provided [RCV004779412] Chr2:203870906 [GRCh38]
Chr2:204735629 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.487C>T (p.Leu163Phe) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV002606607] Chr2:203871407 [GRCh38]
Chr2:204736130 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.654T>A (p.Tyr218Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003145905] Chr2:203872794 [GRCh38]
Chr2:204737517 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.381C>A (p.Tyr127Ter) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003142406] Chr2:203870857 [GRCh38]
Chr2:204735580 [GRCh37]
Chr2:2q33.2		 likely pathogenic
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
GRCh37/hg19 2q33.2(chr2:204521345-204770485)x3 copy number gain not provided [RCV003484086] Chr2:204521345..204770485 [GRCh37]
Chr2:2q33.2		 uncertain significance
NC_000002.12:g.203866287dup duplication not provided [RCV003440138] Chr2:203866281..203866282 [GRCh38]
Chr2:204731004..204731005 [GRCh37]
Chr2:2q33.2		 benign
NM_005214.5(CTLA4):c.110-7A>T single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003848706]|CTLA4-related disorder [RCV003921377] Chr2:203870579 [GRCh38]
Chr2:204735302 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.420C>T (p.Tyr140=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003749494] Chr2:203870896 [GRCh38]
Chr2:204735619 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.325G>A (p.Gly109Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003749835] Chr2:203870801 [GRCh38]
Chr2:204735524 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.275G>C (p.Gly92Ala) single nucleotide variant not provided [RCV004798453] Chr2:203870751 [GRCh38]
Chr2:204735474 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.568-16T>C single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003749168] Chr2:203872692 [GRCh38]
Chr2:204737415 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.258G>A (p.Ala86=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003749081] Chr2:203870734 [GRCh38]
Chr2:204735457 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.84T>C (p.Leu28=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003748936] Chr2:203868026 [GRCh38]
Chr2:204732749 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.300T>C (p.Asp100=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003749437] Chr2:203870776 [GRCh38]
Chr2:204735499 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.543C>T (p.Leu181=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003750102] Chr2:203871463 [GRCh38]
Chr2:204736186 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.295G>C (p.Asp99His) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003750104] Chr2:203870771 [GRCh38]
Chr2:204735494 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.154G>A (p.Gly52Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003749247] Chr2:203870630 [GRCh38]
Chr2:204735353 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.669T>C (p.Asn223=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003749925] Chr2:203872809 [GRCh38]
Chr2:204737532 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.288C>T (p.Thr96=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003865118] Chr2:203870764 [GRCh38]
Chr2:204735487 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.413C>T (p.Pro138Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003587597] Chr2:203870889 [GRCh38]
Chr2:204735612 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.356T>A (p.Leu119Gln) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003587662] Chr2:203870832 [GRCh38]
Chr2:204735555 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.194A>G (p.Lys65Arg) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003865569] Chr2:203870670 [GRCh38]
Chr2:204735393 [GRCh37]
Chr2:2q33.2		 uncertain significance
GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1 copy number loss not specified [RCV003986210] Chr2:204110688..211638554 [GRCh37]
Chr2:2q33.2-34		 pathogenic
NM_005214.5(CTLA4):c.110-4C>G single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003587854] Chr2:203870582 [GRCh38]
Chr2:204735305 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.567+5G>A single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003586829] Chr2:203871492 [GRCh38]
Chr2:204736215 [GRCh37]
Chr2:2q33.2		 uncertain significance
GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1 copy number loss not specified [RCV003986323] Chr2:194305623..215261531 [GRCh37]
Chr2:2q32.3-34		 pathogenic
NM_005214.5(CTLA4):c.56C>T (p.Thr19Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003871263] Chr2:203867998 [GRCh38]
Chr2:204732721 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.538C>A (p.Leu180Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003587965] Chr2:203871458 [GRCh38]
Chr2:204736181 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.457+13A>G single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003747977] Chr2:203870946 [GRCh38]
Chr2:204735669 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.164G>A (p.Ser55Asn) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003748089] Chr2:203870640 [GRCh38]
Chr2:204735363 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.229G>A (p.Ala77Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003748635] Chr2:203870705 [GRCh38]
Chr2:204735428 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.524T>A (p.Phe175Tyr) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003747906] Chr2:203871444 [GRCh38]
Chr2:204736167 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.400A>G (p.Met134Val) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003747924] Chr2:203870876 [GRCh38]
Chr2:204735599 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.568-13T>G single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003748760] Chr2:203872695 [GRCh38]
Chr2:204737418 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.188C>T (p.Pro63Leu) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003588010] Chr2:203870664 [GRCh38]
Chr2:204735387 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.110-1G>A single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003587877] Chr2:203870585 [GRCh38]
Chr2:204735308 [GRCh37]
Chr2:2q33.2		 likely pathogenic
NM_005214.5(CTLA4):c.415T>C (p.Tyr139His) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003586701] Chr2:203870891 [GRCh38]
Chr2:204735614 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.519GTT[1] (p.Leu174del) microsatellite Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003586828] Chr2:203871439..203871441 [GRCh38]
Chr2:204736162..204736164 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.315C>T (p.Gly105=) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003818768] Chr2:203870791 [GRCh38]
Chr2:204735514 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.205G>A (p.Val69Ile) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003587319] Chr2:203870681 [GRCh38]
Chr2:204735404 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.457+12C>A single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003841413] Chr2:203870945 [GRCh38]
Chr2:204735668 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.94C>G (p.Pro32Ala) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003989385] Chr2:203868036 [GRCh38]
Chr2:204732759 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.250G>A (p.Val84Ile) single nucleotide variant Inborn genetic diseases [RCV004374919] Chr2:203870726 [GRCh38]
Chr2:204735449 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.457+1G>A single nucleotide variant CTLA4-related disorder [RCV003903848] Chr2:203870934 [GRCh38]
Chr2:204735657 [GRCh37]
Chr2:2q33.2		 pathogenic
NM_005214.5(CTLA4):c.472C>T (p.Pro158Ser) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV004565959]|CTLA4-related disorder [RCV003899805] Chr2:203871392 [GRCh38]
Chr2:204736115 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.462A>C (p.Pro154=) single nucleotide variant CTLA4-related disorder [RCV003944228] Chr2:203871382 [GRCh38]
Chr2:204736105 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.457+1_457+3del deletion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV003990469] Chr2:203870932..203870934 [GRCh38]
Chr2:204735655..204735657 [GRCh37]
Chr2:2q33.2		 uncertain significance
NM_005214.5(CTLA4):c.497T>C (p.Ile166Thr) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV004577226] Chr2:203871417 [GRCh38]
Chr2:204736140 [GRCh37]
Chr2:2q33.2		 uncertain significance
NC_000002.11:g.(?_204730944)_(204824322_?)del deletion Immunodeficiency, common variable, 1 [RCV004583657] Chr2:204730944..204824322 [GRCh37]
Chr2:2q33.2		 pathogenic
NC_000002.12:g.203854053C>A single nucleotide variant not provided [RCV004810383] Chr2:203854053 [GRCh38]
Chr2:204718776 [GRCh37]
Chr2:2q33.2		 likely benign
NM_005214.5(CTLA4):c.529del (p.Tyr177fs) deletion Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV004799720] Chr2:203871443 [GRCh38]
Chr2:204736166 [GRCh37]
Chr2:2q33.2		 likely pathogenic
NM_005214.5(CTLA4):c.173G>A (p.Cys58Tyr) single nucleotide variant Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency [RCV004720195] Chr2:203870649 [GRCh38]
Chr2:204735372 [GRCh37]
Chr2:2q33.2		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:736
Count of miRNA genes:359
Interacting mature miRNAs:373
Transcripts:ENST00000295854, ENST00000302823, ENST00000427473, ENST00000472206, ENST00000487393
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2293458PRSTS291_HProstate tumor susceptibility QTL 291 (human)0.012Prostate tumor susceptibility2200715236226715236Human
1643053BW117_HBody Weight QTL 117 (human)2.40.00044Body weight2200715236226715236Human
407050939GWAS699915_Hhypothyroidism QTL GWAS699915 (human)0.000007hypothyroidism2203869764203869765Human
596989212GWAS1108731_Hautoimmune thyroid disease QTL GWAS1108731 (human)6e-55autoimmune thyroid disease2203867991203867992Human
1643254BW125_HBody Weight QTL 125 (human)1.450.005Body weightbody mass index2200715236226715236Human

Markers in Region
STS-M37245  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372204,737,563 - 204,737,749UniSTSGRCh37
Build 362204,445,808 - 204,445,994RGDNCBI36
Celera2198,492,384 - 198,492,570RGD
Cytogenetic Map2q33UniSTS
HuRef2196,584,861 - 196,585,047UniSTS
GDB:180415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372204,738,017 - 204,738,144UniSTSGRCh37
Build 362204,446,262 - 204,446,389RGDNCBI36
Celera2198,492,838 - 198,492,923RGD
Cytogenetic Map2q33UniSTS
HuRef2196,585,315 - 196,585,400UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1201 2283 2541 2146 4356 1612 2090 3 570 1454 408 2049 6274 5815 22 3344 1 753 1587 1422 165 1