ADA (adenosine deaminase) - Rat Genome Database

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Gene: ADA (adenosine deaminase) Homo sapiens
Analyze
Symbol: ADA
Name: adenosine deaminase
RGD ID: 736149
HGNC Page HGNC:186
Description: Enables 2'-deoxyadenosine deaminase activity; adenosine deaminase activity; and zinc ion binding activity. Involved in several processes, including negative regulation of adenosine receptor signaling pathway; nucleobase-containing small molecule metabolic process; and regulation of cell-cell adhesion mediated by integrin. Acts upstream of or within adenosine catabolic process and inosine biosynthetic process. Located in cytosol; external side of plasma membrane; and lysosome. Implicated in asthma; colon cancer; pleural tuberculosis; severe combined immunodeficiency (multiple); and uterine fibroid. Biomarker of several diseases, including Legionnaires' disease; Q fever; gastric ulcer; gastrointestinal system cancer (multiple); and lung disease (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADA1; adenosine aminohydrolase; mutant adenosine deaminase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382044,619,522 - 44,651,699 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2044,584,896 - 44,652,252 (-)EnsemblGRCh38hg38GRCh38
GRCh372043,248,163 - 43,280,340 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362042,681,577 - 42,713,790 (-)NCBINCBI36Build 36hg18NCBI36
Build 342042,681,577 - 42,713,790NCBI
Celera2039,956,805 - 39,989,017 (-)NCBICelera
Cytogenetic Map20q13.12NCBI
HuRef2039,989,704 - 40,021,872 (-)NCBIHuRef
CHM1_12043,151,279 - 43,183,492 (-)NCBICHM1_1
T2T-CHM13v2.02046,355,294 - 46,387,474 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
adenosine deaminase deficiency  (IAGP)
asthma  (IAGP)
autism spectrum disorder  (EXP)
autistic disorder  (EXP)
Brain Hypoxia-Ischemia  (ISO)
Cadmium Poisoning  (ISO)
Chemical and Drug Induced Liver Injury  (ISO)
colon cancer  (IAGP,IEP)
colorectal cancer  (IEP)
Coronary Disease  (IEP)
diabetes mellitus  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (EXP)
familial hyperlipidemia  (ISO)
focal epilepsy  (IAGP)
gastric ulcer  (IEP)
Hyperemia  (EXP)
hyperglycemia  (ISO)
hypertension  (ISO)
Hypertriglyceridemia  (ISO)
laryngeal squamous cell carcinoma  (IEP)
Legionnaires' disease  (IEP)
leptospirosis  (ISO)
lung disease  (ISO)
Lung Neoplasms  (EXP)
lung non-small cell carcinoma  (IEP)
lymphopenia  (ISO)
malignant mesothelioma  (IEP)
Malignant Pleural Effusions  (IEP)
Mycoplasma pneumoniae pneumonia  (IEP)
Myocardial Reperfusion Injury  (ISO)
obesity  (IEP)
oral cavity cancer  (IEP)
oral squamous cell carcinoma  (IEP)
peritonitis  (ISO)
Pleural Effusion  (IMP)
pleural tuberculosis  (IDA,IEP)
pleurisy  (ISO)
primary immunodeficiency disease  (ISO)
pulmonary edema  (ISO)
pulmonary sarcoidosis  (IEP)
pulmonary tuberculosis  (IEP)
Q fever  (IEP)
severe combined immunodeficiency  (IAGP)
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive  (IAGP)
spinal cord disease  (EXP)
sporotrichosis  (ISO)
stomach cancer  (IEP)
T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations  (IAGP)
tongue squamous cell carcinoma  (IEP)
trypanosomiasis  (ISO)
type 2 diabetes mellitus  (IEP)
uterine fibroid  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-lipoic acid  (ISO)
(R)-noradrenaline  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrobenzenesulfonic acid  (ISO)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methylcholine  (EXP)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-\{[(5,5,8,8-tetramethyl-5,6,7,8-tetrahydronaphthalen-2-yl)carbonyl]amino\}benzoic acid  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
8-Epidiosbulbin E acetate  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
adenosine  (EXP)
afimoxifene  (EXP)
all-trans-retinoic acid  (EXP)
ammonium acetate  (ISO)
ammonium chloride  (ISO)
atrazine  (EXP)
belinostat  (EXP)
benzalkonium chloride  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
cadmium dichloride  (ISO)
caffeine  (ISO)
calciol  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
corticotropin  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
doxycycline  (ISO)
endosulfan  (ISO)
entinostat  (EXP)
erdosteine  (ISO)
ethyl methanesulfonate  (EXP)
fipronil  (ISO)
flutamide  (ISO)
folic acid  (ISO)
fructose  (ISO)
fulvestrant  (EXP)
genistein  (ISO)
glycerol  (ISO)
hydrogen sulfide  (ISO)
indole-3-butyric acid  (ISO)
indometacin  (EXP)
inosine  (EXP)
irinotecan  (ISO)
isoprenaline  (ISO)
L-glutamine  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (EXP)
methotrexate  (ISO)
N(gamma)-nitro-L-arginine methyl ester  (ISO)
N-formyl-L-methionyl-L-leucyl-L-phenylalanine  (EXP)
N-nitrosodimethylamine  (ISO)
naphthalene  (ISO)
naringin  (ISO)
neomycin  (ISO)
nickel sulfate  (EXP)
nicotine  (ISO)
oxaliplatin  (EXP,ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
phenethyl caffeate  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
progesterone  (EXP)
propranolol  (ISO)
quercetin  (EXP,ISO)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sodium acetate trihydrate  (ISO)
sodium arsenite  (EXP)
streptozocin  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
superoxide  (EXP)
tamibarotene  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
Triptolide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
zidovudine  (EXP)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adenosine catabolic process  (IBA,IDA,IEA,ISO,ISS)
adenosine metabolic process  (IDA,ISO)
aging  (ISO)
allantoin metabolic process  (IEA)
alpha-beta T cell differentiation  (IEA,ISO)
amide catabolic process  (IEA)
AMP catabolic process  (IEA)
AMP salvage  (IEA)
apoptotic process  (IEA)
apoptotic process  (ISO)
B cell proliferation  (IEA,ISO)
calcium-mediated signaling  (IEA,ISO)
cell adhesion  (IEA)
dAMP catabolic process  (IEA)
dATP catabolic process  (IEA,ISO)
deoxyadenosine catabolic process  (IEA,ISO)
embryonic digestive tract development  (IEA,ISO)
germinal center B cell differentiation  (IEA,ISO)
germinal center formation  (IEA,ISO)
GMP salvage  (IEA)
histamine secretion  (ISO)
hypoxanthine biosynthetic process  (IEA,ISO)
hypoxanthine salvage  (IBA)
in utero embryonic development  (IEA,ISO)
inosine biosynthetic process  (IBA,IDA,IEA,ISS)
leukocyte migration  (IEA,ISO)
liver development  (IEA,ISO)
lung alveolus development  (IEA,ISO)
lung development  (IEA,ISO)
mature B cell apoptotic process  (IEA,ISO)
mucus secretion  (IEA,ISO)
negative regulation of adenosine receptor signaling pathway  (IBA,IDA)
negative regulation of apoptotic process  (IEA,ISO)
negative regulation of circadian sleep/wake cycle, non-REM sleep  (ISO)
negative regulation of inflammatory response  (IEA)
negative regulation of inflammatory response  (IEA,ISO)
negative regulation of leukocyte migration  (IEA,ISO)
negative regulation of mature B cell apoptotic process  (IEA,ISO)
negative regulation of mucus secretion  (IEA,ISO)
negative regulation of penile erection  (IEA,ISO)
negative regulation of thymocyte apoptotic process  (IEA,ISO)
nucleotide metabolic process  (IEA)
penile erection  (IEA)
penile erection  (ISO)
Peyer's patch development  (IEA,ISO)
placenta development  (IEA,ISO)
positive regulation of alpha-beta T cell differentiation  (IEA,ISO)
positive regulation of B cell proliferation  (IEA,ISO)
positive regulation of calcium-mediated signaling  (IEA,ISO)
positive regulation of germinal center formation  (IEA,ISO)
positive regulation of heart rate  (IEA,ISO)
positive regulation of smooth muscle contraction  (IEA,ISO)
positive regulation of T cell activation  (IEA,ISO)
positive regulation of T cell differentiation  (IEA,ISO)
positive regulation of T cell differentiation in thymus  (IEA,ISO)
positive regulation of T cell receptor signaling pathway  (IEA,ISO)
purine nucleotide salvage  (IMP)
purine ribonucleoside monophosphate biosynthetic process  (IEA)
purine ribonucleoside monophosphate biosynthetic process  (IEA)
purine-containing compound metabolic process  (IEA)
purine-containing compound salvage  (TAS)
regulation of cell-cell adhesion mediated by integrin  (IDA)
regulation of circadian sleep/wake cycle, sleep  (ISO)
regulation of T cell differentiation  (IEA,ISO)
regulation of T cell differentiation in thymus  (ISO)
response to cadmium ion  (ISO)
response to hydrogen peroxide  (ISO)
response to hypoxia  (IDA,ISO)
response to inorganic substance  (IDA,IEA)
response to L-arginine  (ISO)
response to morphine  (ISO)
response to purine-containing compound  (IDA)
response to vitamin E  (ISO)
response to xenobiotic stimulus  (ISO)
smooth muscle contraction  (IEA)
smooth muscle contraction  (ISO)
T cell activation  (IBA)
T cell activation  (IBA,IDA)
T cell activation  (IDA)
T cell activation  (IEA)
T cell activation  (ISO)
T cell differentiation  (IEA,ISO)
T cell differentiation in thymus  (IEA,ISO)
T cell receptor signaling pathway  (IEA,ISO)
thymocyte apoptotic process  (IEA,ISO)
trophectodermal cell differentiation  (IEA,ISO)
xanthine biosynthetic process  (IEA,ISO)
xenobiotic metabolic process  (TAS)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal lymphocyte morphology  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Abnormal pelvic girdle bone morphology  (IAGP)
Absence of lymph node germinal center  (IAGP)
Absent specific antibody response  (IAGP)
Absent tonsils  (IAGP)
Allergy  (IAGP)
Alopecia  (IAGP)
Anemia  (IAGP)
Anterior rib cupping  (IAGP)
Anti-thyroid peroxidase antibody positivity  (IAGP)
Aplasia of the thymus  (IAGP)
Aplasia/Hypoplasia of the eyebrow  (IAGP)
Asthma  (IAGP)
Autoimmune hemolytic anemia  (IAGP)
Autoimmune thrombocytopenia  (IAGP)
Autoimmunity  (IAGP)
Autosomal recessive inheritance  (IAGP)
B lymphocytopenia  (IAGP)
B-cell lymphoma  (IAGP)
Chronic diarrhea  (IAGP)
Chronic mucocutaneous candidiasis  (IAGP)
Decreased circulating IgA level  (IAGP)
Decreased circulating IgG2 level  (IAGP)
Decreased circulating total IgM  (IAGP)
Desquamation of skin soon after birth  (IAGP)
Diarrhea  (IAGP)
Diffuse mesangial sclerosis  (IAGP)
Dry skin  (IAGP)
Edema  (IAGP)
Eosinophilia  (IAGP)
Erythroderma  (IAGP)
Failure to thrive  (IAGP)
Fever  (IAGP)
Focal-onset seizure  (IAGP)
Growth arrest lines  (IAGP)
Hepatomegaly  (IAGP)
Horizontal inferior border of scapula  (IAGP)
Hypothyroidism  (IAGP)
Increased circulating IgE level  (IAGP)
Infantile onset  (IAGP)
Inflammatory abnormality of the skin  (IAGP)
Lack of T cell function  (IAGP)
Lymphadenopathy  (IAGP)
Lymphoma  (IAGP)
Lymphopenia  (IAGP)
Motor delay  (IAGP)
Neonatal onset  (IAGP)
Nephrotic syndrome  (IAGP)
Platyspondyly  (IAGP)
Pneumonia  (IAGP)
Pruritus  (IAGP)
Pulmonary insufficiency  (IAGP)
Recurrent bacterial infections  (IAGP)
Recurrent fever  (IAGP)
Recurrent fungal infections  (IAGP)
Recurrent opportunistic infections  (IAGP)
Recurrent otitis media  (IAGP)
Recurrent pneumonia  (IAGP)
Recurrent upper respiratory tract infections  (IAGP)
Recurrent viral infections  (IAGP)
Reduced red cell adenosine deaminase level  (IAGP)
Sepsis  (IAGP)
Severe B lymphocytopenia  (IAGP)
Severe combined immunodeficiency  (IAGP)
Short toe  (IAGP)
Sinusitis  (IAGP)
Skin rash  (IAGP)
Somatic mosaicism  (IAGP)
Splenomegaly  (IAGP)
T lymphocytopenia  (IAGP)
Thickened skin  (IAGP)
Thyroiditis  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Curcumin improves episodic memory in cadmium induced memory impairment through inhibition of acetylcholinesterase and adenosine deaminase activities in a rat model. Akinyemi AJ, etal., Metab Brain Dis. 2017 Feb;32(1):87-95. doi: 10.1007/s11011-016-9887-x. Epub 2016 Aug 5.
2. Anti-inflammatory and antimicrobial effect of lectin from Lonchocarpus sericeus seeds in an experimental rat model of infectious peritonitis. Alencar NM, etal., J Pharm Pharmacol. 2005 Jul;57(7):919-22.
3. Serum and pleural adenosine deaminase. Correlation with lymphocytic populations. Baganha MF, etal., Chest. 1990 Mar;97(3):605-10. doi: 10.1378/chest.97.3.605.
4. Serum adenosine deaminase in pulmonary tuberculosis, malignancy and non-tubercular respiratory diseases. Bansal SK, etal., Indian J Chest Dis Allied Sci. 1991 Oct-Dec;33(4):189-93.
5. Syzygium cumini seed extract ameliorates adenosine deaminase activity and biochemical parameters but does not alter insulin sensitivity and pancreas architecture in a short-term model of diabetes. Bitencourt PE, etal., J Complement Integr Med. 2015 Sep;12(3):187-93. doi: 10.1515/jcim-2015-0008.
6. Adenosine deaminase-deficient mice generated using a two-stage genetic engineering strategy exhibit a combined immunodeficiency. Blackburn MR, etal., J Biol Chem 1998 Feb 27;273(9):5093-100.
7. Adenosine deaminase activity in serum and lymphocytes of rats infected with Sporothrix schenckii. Castro VS, etal., Mycopathologia. 2012 Jul;174(1):31-9. doi: 10.1007/s11046-011-9511-x. Epub 2011 Dec 15.
8. Study of leukocytic hydrolytic enzymes in patients with acute stage of coronary heart disease. Chavan V, etal., Indian J Med Sci. 2007 Feb;61(2):73-82.
9. Macrophages are a source of extracellular adenosine deaminase-2 during inflammatory responses. Conlon BA and Law WR, Clin Exp Immunol. 2004 Oct;138(1):14-20. doi: 10.1111/j.1365-2249.2004.02591.x.
10. Activity of the enzyme adenosine deaminase in serum, erythrocytes and lymphocytes of rats infected with Trypanosoma evansi. da Silva AS, etal., Parasitology. 2011 Feb;138(2):201-8.
11. Human adenosine deaminase. cDNA and complete primary amino acid sequence. Daddona PE, etal., J Biol Chem 1984 Oct 10;259(19):12101-6.
12. Adenosine deaminase activity and its isoenzymes in the sputum of patients with pulmonary tuberculosis. Dimakou K, etal., Int J Tuberc Lung Dis. 2009 Jun;13(6):744-8.
13. Adenosine deaminase, 5'-nucleotidase, guanase and cytidine deaminase activities in gastric tissues from patients with gastric cancer. Durak I, etal., Cancer Lett. 1994 Sep 15;84(2):199-202. doi: 10.1016/0304-3835(94)90376-x.
14. Adenosine deaminase, 5' nucleotidase, xanthine oxidase, superoxide dismutase, and catalase activities in cancerous and noncancerous human laryngeal tissues. Durak I, etal., Free Radic Biol Med. 1993 Dec;15(6):681-4. doi: 10.1016/0891-5849(93)90174-s.
15. Effects of black grape extract on activities of DNA turn-over enzymes in cancerous and non cancerous human colon tissues. Durak I, etal., Life Sci. 2005 May 6;76(25):2995-3000. doi: 10.1016/j.lfs.2004.11.018. Epub 2005 Jan 28.
16. Activities of adenosine deaminase and 5'-nucleotidase in cancerous and noncancerous human colorectal tissues. Eroglu A, etal., Med Oncol. 2000 Nov;17(4):319-24. doi: 10.1007/BF02782198.
17. Genetic variability within Adenosine Deaminase gene and uterine leiomyomas. Gloria-Bottini F, etal., Eur J Obstet Gynecol Reprod Biol. 2016 Apr;199:108-9. doi: 10.1016/j.ejogrb.2016.02.002. Epub 2016 Feb 17.
18. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
19. The effect of caffeic acid phenethyl ester on short-term acute myocardial ischemia. Ince H, etal., Med Sci Monit. 2006 May;12(5):BR187-93.
20. Adenosine deaminase activity in bronchoalveolar lavage in Turkish patients with smear negative pulmonary tuberculosis. Kayacan O, etal., Respir Med. 2002 Jul;96(7):536-41.
21. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
22. Adenosine Deaminase - a Novel Diagnostic and Prognostic Biomarker for Oral Squamous Cell Carcinoma. Kelgandre DC, etal., Asian Pac J Cancer Prev. 2016;17(4):1865-8. doi: 10.7314/apjcp.2016.17.4.1865.
23. Antioxidants modulate adenosine metabolism in rat mesangial cells cultured under high glucose conditions. Kocic G, etal., Ren Fail. 2002 Nov;24(6):691-701.
24. Alteration of adenosine deaminase levels in peripheral blood lymphocytes of patients with gastric cancer. Kojima O, etal., Jpn J Surg. 1985 Mar;15(2):130-3. doi: 10.1007/BF02469742.
25. Activation of AMP deaminase and adenosine deaminase in the liver during ammonia poisoning and hepatitis. Kosenko EA and Kaminsky YG, Bull Exp Biol Med. 2010 Jul;150(1):36-8.
26. [Adenosine deaminase activity in bronchoalveolar lavage fluid of sarcoidosis patients]. Kubota M, etal., Nihon Kokyuki Gakkai Zasshi. 1999 May;37(5):374-9.
27. Adenosine deaminase activity in the serum of type 2 diabetic patients. Kurtul N, etal., Acta Medica (Hradec Kralove). 2004;47(1):33-5.
28. The relationship between serum total sialic acid levels and adenosine deaminase activity in obesity. Kurtul N, etal., Saudi Med J. 2006 Feb;27(2):170-3.
29. ADA polymorphisms and asthma: a study in the Chinese Han population. Liu Y, etal., J Asthma. 2006 Apr;43(3):203-6.
30. Adenosine protected against pulmonary edema through transporter- and receptor A2-mediated endothelial barrier enhancement. Lu Q, etal., Am J Physiol Lung Cell Mol Physiol. 2010 Jun;298(6):L755-67. Epub 2010 Mar 12.
31. Rutin and curcumin reduce inflammation, triglyceride levels and ADA activity in serum and immune cells in a model of hyperlipidemia. Manzoni AG, etal., Blood Cells Mol Dis. 2019 May;76:13-21. doi: 10.1016/j.bcmd.2018.12.005. Epub 2018 Dec 28.
32. Adenosine deaminase activity in the aetiological diagnosis of community-acquired pneumonia. Molinos L, etal., Scand J Infect Dis. 1997;29(3):287-90.
33. Adenosine deaminase inhibitor EHNA exhibits a potent anticancer effect against malignant pleural mesothelioma. Nakajima Y, etal., Cell Physiol Biochem. 2015;35(1):51-60. doi: 10.1159/000369674. Epub 2015 Jan 2.
34. Is adenosine deaminase in pleural fluid a useful marker for differentiating tuberculosis from lung cancer or mesothelioma in Japan, a country with intermediate incidence of tuberculosis? Ogata Y, etal., Acta Med Okayama. 2011 Aug;65(4):259-63. doi: 10.18926/AMO/46851.
35. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
36. Sodium acetate improves disrupted glucoregulation and hepatic triglyceride content in insulin-resistant female rats: involvement of adenosine deaminase and dipeptidyl peptidase-4 activities. Omolekulo TE, etal., Naunyn Schmiedebergs Arch Pharmacol. 2019 Jan;392(1):103-116. doi: 10.1007/s00210-018-1569-2. Epub 2018 Oct 2.
37. Antiinflammatory effects of Tacrolimus in a mouse model of pleurisy. Pereira R, etal., Transpl Immunol. 2006 Aug;16(2):105-11. Epub 2006 May 30.
38. Neuroinflammation after neonatal hypoxia-ischemia is associated with alterations in the purinergic system: adenosine deaminase 1 isoenzyme is the most predominant after insult. Pimentel VC, etal., Mol Cell Biochem. 2015 May;403(1-2):169-77. doi: 10.1007/s11010-015-2347-9. Epub 2015 Feb 27.
39. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
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41. The association of adenosine deaminase activity with T-lymphocytes and subsets in pulmonary tuberculosis and bronchogenic carcinoma. Pushpakom R, etal., J Med Assoc Thai. 1990 May;73(5):244-8.
42. Adenosine deaminase in saliva as a diagnostic marker of squamous cell carcinoma of tongue. Rai B, etal., Clin Oral Investig. 2011 Jun;15(3):347-9. doi: 10.1007/s00784-010-0404-z. Epub 2010 Apr 9.
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44. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
45. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
46. Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype. Santisteban I, etal., J Clin Invest 1993 Nov;92(5):2291-302.
47. Adenosine deaminase and 5'-nucleotidase activities in saliva from patients with oral and laryngeal cancer. Saracoglu U, etal., Oral Dis. 2005 Sep;11(5):323-5. doi: 10.1111/j.1601-0825.2005.01131.x.
48. Effects of resveratrol on nucleotide degrading enzymes in streptozotocin-induced diabetic rats. Schmatz R, etal., Life Sci. 2009 Mar 13;84(11-12):345-50. Epub 2009 Jan 8.
49. Alloxan diabetes regulates adenosine deaminase activity in mice: tissue- and age-specific correlation. Singh LS and Sharma R, Biochem Mol Biol Int. 1998 Sep;46(1):55-61.
50. A study of three polymorphic sites of ADA gene in colon cancer. Spina C, etal., Cancer Invest. 2010 Dec;28(10):989-92. doi: 10.3109/07357907.2010.483501. Epub 2010 Jun 30.
51. Pleural Fluid Adenosine Deaminase (ADA) Predicts Survival in Patients with Malignant Pleural Effusion. Terra RM, etal., Lung. 2016 Aug;194(4):681-6. doi: 10.1007/s00408-016-9891-2. Epub 2016 Jun 14.
52. Effects of adenosine deaminase inhibition on blood pressure in old spontaneously hypertensive rats. Tofovic SP, etal., Clin Exp Hypertens. 1998 Apr;20(3):329-44.
53. Adenosine deaminase activity in serum, erythrocytes and lymphocytes of rats infected with Leptospira icterohaemorrhagiae. Tonin AA, etal., Res Vet Sci. 2011 Feb 12.
54. Zinc aspartate alleviates lung injury induced by intestinal ischemia-reperfusion in rats. Turut H, etal., J Surg Res. 2009 Jan;151(1):62-7. Epub 2008 Feb 7.
55. Caspase-4 activation in association with decreased adenosine deaminase activity may be a factor for gastric ulcer. Yaguchi T, etal., Digestion. 2010;81(1):62-7. doi: 10.1159/000252771. Epub 2009 Dec 22.
56. Increased pleural fluid adenosine deaminase levels in patients with malignant pleural effusions: a potential predictor of talc pleurodesis outcome. Yildirim H, etal., Lung. 2007 Dec;185(6):349-54. doi: 10.1007/s00408-007-9042-x. Epub 2007 Oct 19.
57. ADA activity is decreased in lymphocytes from patients with advanced stage of lung cancer. Zanini D, etal., Med Oncol. 2019 Aug 2;36(9):78. doi: 10.1007/s12032-019-1301-1.
58. Differential diagnosis of tuberculous and malignant pleural effusions: what is the role of adenosine deaminase? Zarić B, etal., Lung. 2008 Jul-Aug;186(4):233-240. doi: 10.1007/s00408-008-9085-7. Epub 2008 Mar 21.
Additional References at PubMed
PMID:1284479   PMID:1696926   PMID:1807098   PMID:1856451   PMID:2166947   PMID:2770711   PMID:2783588   PMID:3010705   PMID:3028473   PMID:3182793   PMID:3348976   PMID:3560174  
PMID:3838797   PMID:3839456   PMID:3839802   PMID:6198240   PMID:6208479   PMID:6526272   PMID:6546794   PMID:6688808   PMID:7371221   PMID:7570001   PMID:7594462   PMID:7599635  
PMID:7759315   PMID:8031011   PMID:8101391   PMID:8125298   PMID:8242080   PMID:8299233   PMID:8452534   PMID:8589684   PMID:8894685   PMID:9103436   PMID:9154805   PMID:9225964  
PMID:9247966   PMID:9299436   PMID:9330696   PMID:9361033   PMID:9414266   PMID:9674425   PMID:10506947   PMID:10899322   PMID:11121182   PMID:11125033   PMID:11278278   PMID:11354825  
PMID:11534018   PMID:11772392   PMID:11780052   PMID:11901152   PMID:11999881   PMID:12104097   PMID:12113294   PMID:12150791   PMID:12381379   PMID:12477932   PMID:12712614   PMID:12774669  
PMID:12809673   PMID:12935677   PMID:14684150   PMID:14726805   PMID:15016824   PMID:15028279   PMID:15063762   PMID:15257174   PMID:15281007   PMID:15489334   PMID:15632314   PMID:15761857  
PMID:15983379   PMID:16133068   PMID:16221767   PMID:16224193   PMID:16410722   PMID:16670267   PMID:16724628   PMID:16886895   PMID:16970880   PMID:17181544   PMID:17243920   PMID:17287605  
PMID:17340203   PMID:17397971   PMID:17536804   PMID:17696452   PMID:18029348   PMID:18218852   PMID:18222177   PMID:18302529   PMID:18560234   PMID:18562134   PMID:18597230   PMID:18673094  
PMID:18680557   PMID:18768081   PMID:18794722   PMID:19019667   PMID:19026999   PMID:19086053   PMID:19172437   PMID:19224332   PMID:19237091   PMID:19470168   PMID:19521708   PMID:19628957  
PMID:19633200   PMID:19668260   PMID:19703146   PMID:19789510   PMID:19845893   PMID:19901882   PMID:19913121   PMID:20147632   PMID:20174870   PMID:20180986   PMID:20301656   PMID:20306731  
PMID:20347569   PMID:20392501   PMID:20412337   PMID:20414589   PMID:20453107   PMID:20480728   PMID:20522203   PMID:20548128   PMID:20554694   PMID:20581655   PMID:20615890   PMID:20628086  
PMID:20651391   PMID:20805743   PMID:20836741   PMID:20872567   PMID:20943049   PMID:20959412   PMID:21044950   PMID:21198750   PMID:21269755   PMID:21350874   PMID:21359089   PMID:21365880  
PMID:21461854   PMID:21496384   PMID:21593678   PMID:21640091   PMID:21725047   PMID:21734253   PMID:21856036   PMID:21865054   PMID:21873635   PMID:21919946   PMID:21988832   PMID:22062893  
PMID:22086524   PMID:22104430   PMID:22184407   PMID:22257696   PMID:22614344   PMID:22719194   PMID:22942500   PMID:22952909   PMID:23066321   PMID:23096558   PMID:23128233   PMID:23160984  
PMID:23193172   PMID:23240012   PMID:23433854   PMID:23768730   PMID:23897810   PMID:23959645   PMID:24162774   PMID:24257613   PMID:24305782   PMID:24453844   PMID:24640520   PMID:24682206  
PMID:24722188   PMID:24762755   PMID:24896148   PMID:24965595   PMID:24997584   PMID:25125338   PMID:25170811   PMID:25293959   PMID:25299872   PMID:25324306   PMID:25437848   PMID:25527815  
PMID:25644539   PMID:25647479   PMID:25689690   PMID:25764155   PMID:25963491   PMID:25963833   PMID:26166670   PMID:26186194   PMID:26209915   PMID:26216523   PMID:26261621   PMID:26310829  
PMID:26329539   PMID:26344197   PMID:26376800   PMID:26659614   PMID:26707067   PMID:26794633   PMID:26980102   PMID:26994767   PMID:27017482   PMID:27044834   PMID:27186641   PMID:27273565  
PMID:27453043   PMID:27557561   PMID:27663683   PMID:28074903   PMID:28319113   PMID:28514442   PMID:28748310   PMID:29061410   PMID:29194839   PMID:29797475   PMID:30017738   PMID:30394149  
PMID:30444912   PMID:30641086   PMID:30778076   PMID:30896318   PMID:31233715   PMID:31379209   PMID:31536960   PMID:31709646   PMID:31953681   PMID:32245326   PMID:32438744   PMID:32468861  
PMID:32513696   PMID:33007809   PMID:33957083   PMID:33961781   PMID:34510320   PMID:34709727   PMID:34913218   PMID:34981765   PMID:35468399   PMID:35777322   PMID:36260871  


Genomics

Comparative Map Data
ADA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382044,619,522 - 44,651,699 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2044,584,896 - 44,652,252 (-)EnsemblGRCh38hg38GRCh38
GRCh372043,248,163 - 43,280,340 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362042,681,577 - 42,713,790 (-)NCBINCBI36Build 36hg18NCBI36
Build 342042,681,577 - 42,713,790NCBI
Celera2039,956,805 - 39,989,017 (-)NCBICelera
Cytogenetic Map20q13.12NCBI
HuRef2039,989,704 - 40,021,872 (-)NCBIHuRef
CHM1_12043,151,279 - 43,183,492 (-)NCBICHM1_1
T2T-CHM13v2.02046,355,294 - 46,387,474 (-)NCBIT2T-CHM13v2.0
Ada
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392163,568,491 - 163,592,161 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2163,568,504 - 163,592,159 (-)EnsemblGRCm39 Ensembl
GRCm382163,726,571 - 163,750,239 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2163,726,584 - 163,750,239 (-)EnsemblGRCm38mm10GRCm38
MGSCv372163,552,320 - 163,575,913 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362163,418,025 - 163,441,618 (-)NCBIMGSCv36mm8
Celera2169,670,309 - 169,693,933 (-)NCBICelera
Cytogenetic Map2H3NCBI
cM Map284.44NCBI
Ada
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23152,398,745 - 152,422,854 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3152,398,747 - 152,447,088 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3156,206,205 - 156,230,314 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.03164,705,138 - 164,729,255 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.03162,449,261 - 162,473,358 (-)NCBIRnor_WKY
Rnor_6.03160,115,840 - 160,139,947 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3160,115,842 - 160,139,947 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03166,306,001 - 166,330,108 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43154,636,530 - 154,660,637 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13154,542,567 - 154,566,673 (-)NCBI
Celera3151,051,040 - 151,075,153 (-)NCBICelera
Cytogenetic Map3q42NCBI
Ada
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544512,696,096 - 12,717,488 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544512,696,096 - 12,717,488 (+)NCBIChiLan1.0ChiLan1.0
ADA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12042,044,613 - 42,076,868 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2042,044,613 - 42,076,868 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02040,950,238 - 40,982,481 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
ADA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12432,083,786 - 32,119,810 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2432,083,931 - 32,111,160 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2431,725,150 - 31,756,275 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02432,790,716 - 32,821,895 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2432,790,730 - 32,818,187 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12432,052,411 - 32,083,510 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02432,167,117 - 32,198,181 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02432,708,375 - 32,739,510 (-)NCBIUU_Cfam_GSD_1.0
Ada
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640181,082,150 - 181,103,907 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365302,217,713 - 2,224,070 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1747,044,497 - 47,072,245 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11747,044,492 - 47,072,232 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21752,502,115 - 52,544,469 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ADA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1219,167,209 - 19,200,233 (+)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605067,836,179 - 67,868,616 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ada
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247909,809,492 - 9,829,883 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247909,809,550 - 9,829,199 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADA
367 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NG_007385.1:g.3546_6801del deletion Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000002037] Chr20:44649935..44653190 [GRCh38]
Chr20:43278576..43281831 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_000022.4(ADA):c.976-34G>A single nucleotide variant SCID due to ADA deficiency, delayed onset [RCV000002049] Chr20:44620435 [GRCh38]
Chr20:43249076 [GRCh37]
Chr20:20q13.12		 pathogenic
ADA, IVS2DS, G-A, +1 single nucleotide variant Severe combined immunodeficiency due to ADA deficiency [RCV000002051] Chr20:20q13.11 pathogenic
NM_000022.4(ADA):c.781-3_781delinsTGGAAGAGCAGATCTGG indel Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000002052] Chr20:44622652..44622655 [GRCh38]
Chr20:43251293..43251296 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_000022.4(ADA):c.33+1G>C single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000002053] Chr20:44651574 [GRCh38]
Chr20:43280215 [GRCh37]
Chr20:20q13.12		 pathogenic
ADA, IVS5DS, G-A, +1 single nucleotide variant Severe combined immunodeficiency due to ADA deficiency [RCV000002055] Chr20:20q13.11 pathogenic
ADA, IVS11AS, 31701T-A AND 11-BP DEL, NT31702 deletion SCID due to ADA deficiency, delayed onset [RCV000002060] Chr20:20q13.11 pathogenic
NM_000022.4(ADA):c.976-4C>T single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001494064] Chr20:44620405 [GRCh38]
Chr20:43249046 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.36= (p.Val12=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001082526]|not provided [RCV000590787] Chr20:44636286 [GRCh38]
Chr20:43264927 [GRCh37]
Chr20:20q13.12		 benign
NM_000022.4(ADA):c.390G>A (p.Val130=) single nucleotide variant Severe combined immunodeficiency disease [RCV000029301]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000338197]|not provided [RCV001811198]|not specified [RCV000123531] Chr20:44625657 [GRCh38]
Chr20:43254298 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_000022.4(ADA):c.872C>G (p.Ser291Trp) single nucleotide variant Severe combined immunodeficiency disease [RCV000029302]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV002513235] Chr20:44621121 [GRCh38]
Chr20:43249762 [GRCh37]
Chr20:20q13.12		 likely pathogenic
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000002031]|not provided [RCV001711065]|not specified [RCV000247281] Chr20:44626579 [GRCh38]
Chr20:43255220 [GRCh37]
Chr20:20q13.12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000002032] Chr20:44626517 [GRCh38]
Chr20:43255158 [GRCh37]
Chr20:20q13.12		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000002033]|not provided [RCV000788281] Chr20:44626516 [GRCh38]
Chr20:43255157 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_000022.4(ADA):c.632G>A (p.Arg211His) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000002034]|not provided [RCV000756972] Chr20:44623053 [GRCh38]
Chr20:43251694 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_000022.4(ADA):c.911T>G (p.Leu304Arg) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000002035] Chr20:44621082 [GRCh38]
Chr20:43249723 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_000022.2(ADA):c.986C>T single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000002036]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive [RCV001194143]|not provided [RCV000373062] Chr20:44620391 [GRCh38]
Chr20:43249032 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) single nucleotide variant Partial adenosine deaminase deficiency [RCV000002038]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059115]|not provided [RCV002260959]|not specified [RCV002307351] Chr20:44621103 [GRCh38]
Chr20:43249744 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000022.4(ADA):c.226C>T (p.Arg76Trp) single nucleotide variant Partial adenosine deaminase deficiency [RCV000002039]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059096]|not provided [RCV000482569] Chr20:44626592 [GRCh38]
Chr20:43255233 [GRCh37]
Chr20:20q13.12		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000022.4(ADA):c.446G>A (p.Arg149Gln) single nucleotide variant Partial adenosine deaminase deficiency [RCV000002040]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059104]|not specified [RCV002307352] Chr20:44625601 [GRCh38]
Chr20:43254242 [GRCh37]
Chr20:20q13.12		 pathogenic|uncertain significance|not provided
NM_000022.4(ADA):c.821C>T (p.Pro274Leu) single nucleotide variant Partial adenosine deaminase deficiency [RCV000002041]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059114] Chr20:44622612 [GRCh38]
Chr20:43251253 [GRCh37]
Chr20:20q13.12		 pathogenic|uncertain significance|not provided
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) single nucleotide variant Severe combined immunodeficiency disease [RCV001731270]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000002042]|not provided [RCV000255602] Chr20:44626498 [GRCh38]
Chr20:43255139 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) single nucleotide variant Partial adenosine deaminase deficiency [RCV000002043]|Severe combined immunodeficiency disease [RCV002298431]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059111] Chr20:44623054 [GRCh38]
Chr20:43251695 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) single nucleotide variant Partial adenosine deaminase deficiency [RCV000002044]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059112]|not specified [RCV001280563] Chr20:44623042 [GRCh38]
Chr20:43251683 [GRCh37]
Chr20:20q13.12		 pathogenic|uncertain significance|not provided
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000002045]|not provided [RCV000256171] Chr20:44623039 [GRCh38]
Chr20:43251680 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_000022.4(ADA):c.219-2A>G single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000002046] Chr20:44626601 [GRCh38]
Chr20:43255242 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) single nucleotide variant Severe combined immunodeficiency disease [RCV000780816]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000002047]|not provided [RCV001588796] Chr20:44625581 [GRCh38]
Chr20:43254222 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000002048]|not provided [RCV000788574] Chr20:44621121 [GRCh38]
Chr20:43249762 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) single nucleotide variant Adenosine deaminase 2 allozyme [RCV000002050]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000351193]|not provided [RCV001668121]|not specified [RCV000508187] Chr20:44651586 [GRCh38]
Chr20:43280227 [GRCh37]
Chr20:20q13.12		 pathogenic|benign|likely benign
NM_000022.4(ADA):c.221G>T (p.Gly74Val) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000002054] Chr20:44626597 [GRCh38]
Chr20:43255238 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_000022.4(ADA):c.454C>A (p.Leu152Met) single nucleotide variant Partial adenosine deaminase deficiency [RCV000002056]|Severe combined immunodeficiency disease [RCV001731271]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059105]|not provided [RCV001531958] Chr20:44625593 [GRCh38]
Chr20:43254234 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000022.4(ADA):c.698C>T (p.Thr233Ile) single nucleotide variant Partial adenosine deaminase deficiency [RCV000002057]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059113] Chr20:44622911 [GRCh38]
Chr20:43251552 [GRCh37]
Chr20:20q13.12		 pathogenic|uncertain significance|not provided
NM_000022.4(ADA):c.1079-15T>A single nucleotide variant SCID due to ADA deficiency, delayed onset [RCV000002059] Chr20:44619862 [GRCh38]
Chr20:43248503 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_000022.4(ADA):c.467G>A (p.Arg156His) single nucleotide variant SCID due to ADA deficiency, delayed onset [RCV000002061]|Severe combined immunodeficiency disease [RCV001731272]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059106] Chr20:44625580 [GRCh38]
Chr20:43254221 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic|not provided
NM_000022.4(ADA):c.956_960del (p.Glu319fs) deletion Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000173618]|not provided [RCV000255208] Chr20:44621033..44621037 [GRCh38]
Chr20:43249674..43249678 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000022.4(ADA):c.385G>A (p.Val129Met) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059099] Chr20:44625662 [GRCh38]
Chr20:43254303 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic|not provided
NM_000022.4(ADA):c.419G>A (p.Gly140Glu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059100] Chr20:44625628 [GRCh38]
Chr20:43254269 [GRCh37]
Chr20:20q13.12		 not provided
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059101]|not provided [RCV000523342]|not specified [RCV002222377] Chr20:44625622 [GRCh38]
Chr20:43254263 [GRCh37]
Chr20:20q13.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000022.4(ADA):c.43C>G (p.His15Asp) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059102]|not provided [RCV000429669] Chr20:44636279 [GRCh38]
Chr20:43264920 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic|not provided
NM_000022.4(ADA):c.445C>T (p.Arg149Trp) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059103] Chr20:44625602 [GRCh38]
Chr20:43254243 [GRCh37]
Chr20:20q13.12		 uncertain significance|not provided
NM_000022.4(ADA):c.529G>A (p.Val177Met) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059107] Chr20:44624279 [GRCh38]
Chr20:43252920 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic|not provided
NM_000022.4(ADA):c.536C>A (p.Ala179Asp) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059108] Chr20:44624272 [GRCh38]
Chr20:43252913 [GRCh37]
Chr20:20q13.12		 likely pathogenic|not provided
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059109]|not provided [RCV000494092] Chr20:44636264 [GRCh38]
Chr20:43264905 [GRCh37]
Chr20:20q13.12		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000022.4(ADA):c.596A>C (p.Gln199Pro) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059110] Chr20:44624212 [GRCh38]
Chr20:43252853 [GRCh37]
Chr20:20q13.12		 not provided
NM_000022.4(ADA):c.220G>T (p.Gly74Cys) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059095] Chr20:44626598 [GRCh38]
Chr20:43255239 [GRCh37]
Chr20:20q13.12		 not provided
NM_000022.4(ADA):c.248C>A (p.Ala83Asp) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059097] Chr20:44626570 [GRCh38]
Chr20:43255211 [GRCh37]
Chr20:20q13.12		 not provided
NM_000022.4(ADA):c.302G>T (p.Arg101Leu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000059098] Chr20:44626516 [GRCh38]
Chr20:43255157 [GRCh37]
Chr20:20q13.12		 pathogenic|not provided
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1 copy number loss See cases [RCV000140816] Chr20:35237946..47631818 [GRCh38]
Chr20:33825749..46260562 [GRCh37]
Chr20:33289165..45693969 [NCBI36]
Chr20:20q11.22-13.12		 pathogenic
NM_000022.4(ADA):c.478+1G>A single nucleotide variant Severe combined immunodeficiency disease [RCV001731467]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000002055]|not provided [RCV000254941] Chr20:44625568 [GRCh38]
Chr20:43254209 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_000022.4(ADA):c.96-10T>G single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001494069] Chr20:44629179 [GRCh38]
Chr20:43257820 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000215113] Chr20:44622905 [GRCh38]
Chr20:43251546 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_000022.4(ADA):c.218+17C>G single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV002076057] Chr20:44629030 [GRCh38]
Chr20:43257671 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.757C>T (p.Arg253Trp) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000810109]|not provided [RCV000756973] Chr20:44622852 [GRCh38]
Chr20:43251493 [GRCh37]
Chr20:20q13.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000022.4(ADA):c.367G>A (p.Asp123Asn) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV002298756]|not provided [RCV000756974] Chr20:44625680 [GRCh38]
Chr20:43254321 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.445C>A (p.Arg149=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001140808]|not specified [RCV000252243] Chr20:44625602 [GRCh38]
Chr20:43254243 [GRCh37]
Chr20:20q13.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000022.4(ADA):c.534A>G (p.Val178=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000280771]|not provided [RCV001706284]|not specified [RCV000242567] Chr20:44624274 [GRCh38]
Chr20:43252915 [GRCh37]
Chr20:20q13.12		 benign
NM_000022.4(ADA):c.927G>A (p.Gln309=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000268876] Chr20:44621066 [GRCh38]
Chr20:43249707 [GRCh37]
Chr20:20q13.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000022.4(ADA):c.*282C>T single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000366907] Chr20:44619552 [GRCh38]
Chr20:43248193 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_000022.4(ADA):c.162G>A (p.Lys54=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000279882]|not provided [RCV001706550]|not specified [RCV001821021] Chr20:44629103 [GRCh38]
Chr20:43257744 [GRCh37]
Chr20:20q13.12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000022.4(ADA):c.*173G>C single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000327290] Chr20:44619661 [GRCh38]
Chr20:43248302 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.591T>A (p.His197Gln) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000377525]|not specified [RCV001375517] Chr20:44624217 [GRCh38]
Chr20:43252858 [GRCh37]
Chr20:20q13.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000378500] Chr20:44622894 [GRCh38]
Chr20:43251535 [GRCh37]
Chr20:20q13.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000022.4(ADA):c.*174T>A single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000274589] Chr20:44619660 [GRCh38]
Chr20:43248301 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.834T>C (p.His278=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000326313]|not provided [RCV001705506] Chr20:44622599 [GRCh38]
Chr20:43251240 [GRCh37]
Chr20:20q13.12		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000022.4(ADA):c.*152C>T single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000384135] Chr20:44619682 [GRCh38]
Chr20:43248323 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.3(ADA):c.-101G>A single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000312578]|not provided [RCV001653635] Chr20:44651708 [GRCh38]
Chr20:43280349 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_000022.4(ADA):c.532dup (p.Val178fs) duplication Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001729503]|not provided [RCV000404033] Chr20:44624275..44624276 [GRCh38]
Chr20:43252916..43252917 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_000022.4(ADA):c.367del (p.Asp123fs) deletion Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000766120]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001729699] Chr20:44625680 [GRCh38]
Chr20:43254321 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_000022.4(ADA):c.-10C>G single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000400336] Chr20:44651617 [GRCh38]
Chr20:43280258 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.594C>T (p.Val198=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000320605] Chr20:44624214 [GRCh38]
Chr20:43252855 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.679-8C>T single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000286483] Chr20:44622938 [GRCh38]
Chr20:43251579 [GRCh37]
Chr20:20q13.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) deletion Severe combined immunodeficiency disease [RCV001194147]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000606716] Chr20:44624276 [GRCh38]
Chr20:43252917 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_000022.4(ADA):c.508A>G (p.Lys170Glu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001346105]|not specified [RCV000413364] Chr20:44624300 [GRCh38]
Chr20:43252941 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.575G>A (p.Ser192Asn) single nucleotide variant not provided [RCV000417424] Chr20:44624233 [GRCh38]
Chr20:43252874 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.780+7G>A single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000873963]|not specified [RCV000418703] Chr20:44622822 [GRCh38]
Chr20:43251463 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.7C>T (p.Gln3Ter) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000687426]|not provided [RCV000433743] Chr20:44651601 [GRCh38]
Chr20:43280242 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_000022.4(ADA):c.362+5_362+8del microsatellite not provided [RCV000481952] Chr20:44626448..44626451 [GRCh38]
Chr20:43255089..43255092 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_000022.4(ADA):c.36G>A (p.Val12=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001276027]|not specified [RCV000455130] Chr20:44636286 [GRCh38]
Chr20:43264927 [GRCh37]
Chr20:20q13.12		 benign
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) single nucleotide variant Severe combined immunodeficiency disease [RCV000780818]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000668819]|not specified [RCV000455891] Chr20:44622588 [GRCh38]
Chr20:43251229 [GRCh37]
Chr20:20q13.12		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000022.4(ADA):c.606+10G>A single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000624927]|not specified [RCV000499716] Chr20:44624192 [GRCh38]
Chr20:43252833 [GRCh37]
Chr20:20q13.12		 benign|likely benign|uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_000022.4(ADA):c.758G>A (p.Arg253Gln) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000644509] Chr20:44622851 [GRCh38]
Chr20:43251492 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.642C>T (p.His214=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000644516] Chr20:44623043 [GRCh38]
Chr20:43251684 [GRCh37]
Chr20:20q13.12		 likely benign|conflicting interpretations of pathogenicity
NM_000022.4(ADA):c.6C>T (p.Ala2=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000644517] Chr20:44651602 [GRCh38]
Chr20:43280243 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.95+9A>G single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000527860]|not provided [RCV001702508]|not specified [RCV000613838] Chr20:44636218 [GRCh38]
Chr20:43264859 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000538818] Chr20:44622906 [GRCh38]
Chr20:43251547 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_000022.4(ADA):c.831G>T (p.Glu277Asp) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000644508] Chr20:44622602 [GRCh38]
Chr20:43251243 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.679-6C>T single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000644513] Chr20:44622936 [GRCh38]
Chr20:43251577 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.639C>T (p.Val213=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000644514] Chr20:44623046 [GRCh38]
Chr20:43251687 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.110C>T (p.Ala37Val) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000644515]|not specified [RCV000608642] Chr20:44629155 [GRCh38]
Chr20:43257796 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.556G>A (p.Glu186Lys) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000672186] Chr20:44624252 [GRCh38]
Chr20:43252893 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.402C>T (p.Gly134=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000644510]|not provided [RCV001355739]|not specified [RCV001824852] Chr20:44625645 [GRCh38]
Chr20:43254286 [GRCh37]
Chr20:20q13.12		 benign|likely benign|uncertain significance
NM_000022.4(ADA):c.663C>T (p.Ala221=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000644511] Chr20:44623022 [GRCh38]
Chr20:43251663 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.525G>A (p.Gln175=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000644512] Chr20:44624283 [GRCh38]
Chr20:43252924 [GRCh37]
Chr20:20q13.12		 likely benign
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_000022.4(ADA):c.1091del (p.Leu363_Ter364insTer) deletion Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000672405] Chr20:44619835 [GRCh38]
Chr20:43248476 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.716G>A (p.Gly239Asp) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000671054] Chr20:44622893 [GRCh38]
Chr20:43251534 [GRCh37]
Chr20:20q13.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000022.4(ADA):c.350G>A (p.Trp117Ter) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000670433] Chr20:44626468 [GRCh38]
Chr20:43255109 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_000022.4(ADA):c.790del (p.Trp264fs) deletion Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000665482] Chr20:44622643 [GRCh38]
Chr20:43251284 [GRCh37]
Chr20:20q13.12		 likely pathogenic
NM_000022.4(ADA):c.424C>T (p.Arg142Ter) single nucleotide variant Severe combined immunodeficiency disease [RCV001731865]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000668278] Chr20:44625623 [GRCh38]
Chr20:43254264 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_000022.4(ADA):c.383_404dup (p.Leu137fs) duplication Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000665655] Chr20:44625642..44625643 [GRCh38]
Chr20:43254283..43254284 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_000022.4(ADA):c.396dup (p.Val133fs) duplication Severe combined immunodeficiency disease [RCV000780819]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000665672] Chr20:44625650..44625651 [GRCh38]
Chr20:43254291..43254292 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_000022.4(ADA):c.781-4_781-3insTGGAAGAG insertion Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000674318] Chr20:44622655..44622656 [GRCh38]
Chr20:43251296..43251297 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.1078+2T>A single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000674591] Chr20:44620297 [GRCh38]
Chr20:43248938 [GRCh37]
Chr20:20q13.12		 likely pathogenic
NM_000022.4(ADA):c.218+2dup duplication Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000673700]|not provided [RCV001815428] Chr20:44629044..44629045 [GRCh38]
Chr20:43257685..43257686 [GRCh37]
Chr20:20q13.12		 likely pathogenic|uncertain significance
NM_000022.4(ADA):c.785_786insGTCTG (p.Cys262fs) insertion Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000674310] Chr20:44622647..44622648 [GRCh38]
Chr20:43251288..43251289 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_000022.4(ADA):c.603C>G (p.Tyr201Ter) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000670951] Chr20:44624205 [GRCh38]
Chr20:43252846 [GRCh37]
Chr20:20q13.12		 likely pathogenic
NM_000022.4(ADA):c.95+1G>A single nucleotide variant Severe combined immunodeficiency disease [RCV001731875]|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000670969] Chr20:44636226 [GRCh38]
Chr20:43264867 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_000022.4(ADA):c.678+5G>A single nucleotide variant not specified [RCV000714866] Chr20:44623002 [GRCh38]
Chr20:43251643 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.218+1G>A single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000671592] Chr20:44629046 [GRCh38]
Chr20:43257687 [GRCh37]
Chr20:20q13.12		 likely pathogenic
NM_000022.4(ADA):c.467G>T (p.Arg156Leu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000671721] Chr20:44625580 [GRCh38]
Chr20:43254221 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.478+6T>A single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000668431] Chr20:44625563 [GRCh38]
Chr20:43254204 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.479-3_479-2del microsatellite Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000666919] Chr20:44624331..44624332 [GRCh38]
Chr20:43252972..43252973 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.845+1G>C single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000667118] Chr20:44622587 [GRCh38]
Chr20:43251228 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_000022.4(ADA):c.736C>T (p.Gln246Ter) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000664490] Chr20:44622873 [GRCh38]
Chr20:43251514 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_000022.4(ADA):c.219-1G>A single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000675036] Chr20:44626600 [GRCh38]
Chr20:43255241 [GRCh37]
Chr20:20q13.12		 likely pathogenic
NM_000022.4(ADA):c.218+2T>G single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000665110] Chr20:44629045 [GRCh38]
Chr20:43257686 [GRCh37]
Chr20:20q13.12		 likely pathogenic
NM_000022.4(ADA):c.260T>C (p.Val87Ala) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000694687] Chr20:44626558 [GRCh38]
Chr20:43255199 [GRCh37]
Chr20:20q13.12		 uncertain significance
NC_000020.11:g.(?_44651555)_(44651627_?)del deletion Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000708401] Chr20:44651555..44651627 [GRCh38]
Chr20:43280196..43280268 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_000022.4(ADA):c.61T>G (p.Ser21Ala) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000690764]|not provided [RCV001507463] Chr20:44636261 [GRCh38]
Chr20:43264902 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.311C>T (p.Pro104Leu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000685056] Chr20:44626507 [GRCh38]
Chr20:43255148 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
Single allele deletion Focal-onset seizure [RCV001004039] Chr20:34980430..46806549 [GRCh37]
Chr20:20q11.23-13.13		 likely pathogenic
NM_000022.4(ADA):c.937C>T (p.Arg313Trp) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001559239] Chr20:44621056 [GRCh38]
Chr20:43249697 [GRCh37]
Chr20:20q13.12		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q13.12(chr20:43275360-43278054)x1 copy number loss not provided [RCV000741224] Chr20:43275360..43278054 [GRCh37]
Chr20:20q13.12		 benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_000022.4(ADA):c.96-165A>G single nucleotide variant not provided [RCV001708519] Chr20:44629334 [GRCh38]
Chr20:43257975 [GRCh37]
Chr20:20q13.12		 benign
NM_000022.4(ADA):c.95+165A>G single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001548956]|not provided [RCV001619972] Chr20:44636062 [GRCh38]
Chr20:43264703 [GRCh37]
Chr20:20q13.12		 benign
NM_000022.4(ADA):c.618G>T (p.Lys206Asn) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001043610] Chr20:44623067 [GRCh38]
Chr20:43251708 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.479-161G>A single nucleotide variant not provided [RCV001709866] Chr20:44624490 [GRCh38]
Chr20:43253131 [GRCh37]
Chr20:20q13.12		 benign
NC_000020.11:g.(?_44636217)_(44636298_?)dup duplication Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001031200] Chr20:43264858..43264939 [GRCh37]
Chr20:20q13.12		 likely pathogenic
NM_000022.4(ADA):c.95+84G>A single nucleotide variant not provided [RCV001549993] Chr20:44636143 [GRCh38]
Chr20:43264784 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.1079-7C>T single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000892887]|not provided [RCV001702746] Chr20:44619854 [GRCh38]
Chr20:43248495 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_000022.4(ADA):c.645C>T (p.Ala215=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000942899] Chr20:44623040 [GRCh38]
Chr20:43251681 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.144C>T (p.Asn48=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000924329] Chr20:44629121 [GRCh38]
Chr20:43257762 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.621C>T (p.Ser207=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000946412] Chr20:44623064 [GRCh38]
Chr20:43251705 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.108C>T (p.Ile36=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000981369] Chr20:44629157 [GRCh38]
Chr20:43257798 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.1021_1022del (p.Arg341fs) microsatellite Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001051394] Chr20:44620355..44620356 [GRCh38]
Chr20:43248996..43248997 [GRCh37]
Chr20:20q13.12		 pathogenic|likely pathogenic
NM_000022.4(ADA):c.659C>T (p.Ser220Leu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001055300] Chr20:44623026 [GRCh38]
Chr20:43251667 [GRCh37]
Chr20:20q13.12		 uncertain significance
NC_000020.11:g.(?_44636217)_(44636298_?)del deletion Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001033221] Chr20:43264858..43264939 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_000022.4(ADA):c.33+3G>A single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001059021] Chr20:44651572 [GRCh38]
Chr20:43280213 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.452T>C (p.Ile151Thr) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001059692] Chr20:44625595 [GRCh38]
Chr20:43254236 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.375C>G (p.Thr125=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000945720] Chr20:44625672 [GRCh38]
Chr20:43254313 [GRCh37]
Chr20:20q13.12		 likely benign|conflicting interpretations of pathogenicity
NM_000022.4(ADA):c.975+8G>A single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000873222]|not specified [RCV001817025] Chr20:44621010 [GRCh38]
Chr20:43249651 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.21C>T (p.Phe7=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001137924]|not provided [RCV000879100] Chr20:44651587 [GRCh38]
Chr20:43280228 [GRCh37]
Chr20:20q13.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000022.4(ADA):c.777C>T (p.Phe259=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000982910] Chr20:44622832 [GRCh38]
Chr20:43251473 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.937C>A (p.Arg313=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000872720] Chr20:44621056 [GRCh38]
Chr20:43249697 [GRCh37]
Chr20:20q13.12		 likely benign
GRCh37/hg19 20q13.12(chr20:43264839-43265435) copy number gain Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000767698] Chr20:43264839..43265435 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_000022.4(ADA):c.422A>C (p.Glu141Ala) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000820744] Chr20:44625625 [GRCh38]
Chr20:43254266 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.578T>A (p.Leu193His) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000819691] Chr20:44624230 [GRCh38]
Chr20:43252871 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.567A>C (p.Pro189=) single nucleotide variant not provided [RCV000938050] Chr20:44624241 [GRCh38]
Chr20:43252882 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.217G>A (p.Ala73Thr) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV002535773]|not provided [RCV000788316] Chr20:44629048 [GRCh38]
Chr20:43257689 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.313C>T (p.His105Tyr) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000819973] Chr20:44626505 [GRCh38]
Chr20:43255146 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.362+4A>G single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000812943] Chr20:44626452 [GRCh38]
Chr20:43255093 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.57C>A (p.Asp19Glu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000796546] Chr20:44636265 [GRCh38]
Chr20:43264906 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.298G>A (p.Val100Met) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000801244] Chr20:44626520 [GRCh38]
Chr20:43255161 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.844C>T (p.Arg282Trp) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000818070] Chr20:44622589 [GRCh38]
Chr20:43251230 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.500A>G (p.Glu167Gly) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000811381] Chr20:44624308 [GRCh38]
Chr20:43252949 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.1033G>T (p.Asp345Tyr) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000822153] Chr20:44620344 [GRCh38]
Chr20:43248985 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.479-2del deletion Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000809597] Chr20:44624331 [GRCh38]
Chr20:43252972 [GRCh37]
Chr20:20q13.12		 likely pathogenic
NC_000020.11:g.(?_44651565)_(44651768_?)del deletion Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001031122] Chr20:43280206..43280409 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_000022.4(ADA):c.*162G>A single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001137814] Chr20:44619672 [GRCh38]
Chr20:43248313 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.*4C>T single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001137815] Chr20:44619830 [GRCh38]
Chr20:43248471 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.-28G>C single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001137925] Chr20:44651635 [GRCh38]
Chr20:43280276 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.44A>T (p.His15Leu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000790400] Chr20:44636278 [GRCh38]
Chr20:43264919 [GRCh37]
Chr20:20q13.12		 likely pathogenic
NM_000022.4(ADA):c.1008A>G (p.Pro336=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000871735] Chr20:44620369 [GRCh38]
Chr20:43249010 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.970del (p.Arg324fs) deletion Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001066596] Chr20:44621023 [GRCh38]
Chr20:43249664 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_000022.4(ADA):c.301C>G (p.Arg101Gly) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001246793] Chr20:44626517 [GRCh38]
Chr20:43255158 [GRCh37]
Chr20:20q13.12		 likely pathogenic|uncertain significance
NM_000022.4(ADA):c.622G>A (p.Gly208Ser) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001242000] Chr20:44623063 [GRCh38]
Chr20:43251704 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.932C>T (p.Thr311Ile) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001221739] Chr20:44621061 [GRCh38]
Chr20:43249702 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.770T>C (p.Met257Thr) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001242086] Chr20:44622839 [GRCh38]
Chr20:43251480 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_000022.4(ADA):c.739G>A (p.Ala247Thr) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001245878] Chr20:44622870 [GRCh38]
Chr20:43251511 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.941A>G (p.Asp314Gly) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001140047] Chr20:44621052 [GRCh38]
Chr20:43249693 [GRCh37]
Chr20:20q13.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_000022.4(ADA):c.446G>T (p.Arg149Leu) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001140807] Chr20:44625601 [GRCh38]
Chr20:43254242 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.1009G>A (p.Glu337Lys) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV003106757] Chr20:44620368 [GRCh38]
Chr20:43249009 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.607-79A>G single nucleotide variant not provided [RCV001575512] Chr20:44623157 [GRCh38]
Chr20:43251798 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.363-165= single nucleotide variant not provided [RCV001674308] Chr20:44625849 [GRCh38]
Chr20:43254490 [GRCh37]
Chr20:20q13.12		 benign
NM_000022.4(ADA):c.96-270AC[12] microsatellite not provided [RCV001672351] Chr20:44629417..44629418 [GRCh38]
Chr20:43258058..43258059 [GRCh37]
Chr20:20q13.12		 benign
NM_000022.4(ADA):c.708G>A (p.Leu236=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001273110]|not provided [RCV000932465] Chr20:44622901 [GRCh38]
Chr20:43251542 [GRCh37]
Chr20:20q13.12		 likely benign|uncertain significance
NM_000022.4(ADA):c.479-9C>T single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000909980] Chr20:44624338 [GRCh38]
Chr20:43252979 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.1020G>A (p.Lys340=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000927805] Chr20:44620357 [GRCh38]
Chr20:43248998 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.822G>A (p.Pro274=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000923793] Chr20:44622611 [GRCh38]
Chr20:43251252 [GRCh37]
Chr20:20q13.12		 benign
NM_000022.4(ADA):c.384G>A (p.Glu128=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000953931]|not specified [RCV001818987] Chr20:44625663 [GRCh38]
Chr20:43254304 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.192G>A (p.Lys64=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000892626]|not specified [RCV001818676] Chr20:44629073 [GRCh38]
Chr20:43257714 [GRCh37]
Chr20:20q13.12		 benign|likely benign
NM_000022.4(ADA):c.1065T>C (p.Pro355=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000978340] Chr20:44620312 [GRCh38]
Chr20:43248953 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.660G>A (p.Ser220=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000873409] Chr20:44623025 [GRCh38]
Chr20:43251666 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.864T>G (p.Ala288=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000932939] Chr20:44621129 [GRCh38]
Chr20:43249770 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.948C>T (p.Gly316=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001469812]|not provided [RCV000979550] Chr20:44621045 [GRCh38]
Chr20:43249686 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.899T>G (p.Phe300Cys) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001140048] Chr20:44621094 [GRCh38]
Chr20:43249735 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.272C>T (p.Ala91Val) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001218957] Chr20:44626546 [GRCh38]
Chr20:43255187 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.879_898del (p.Thr294fs) deletion Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001243557] Chr20:44621095..44621114 [GRCh38]
Chr20:43249736..43249755 [GRCh37]
Chr20:20q13.12		 pathogenic
NM_000022.4(ADA):c.283G>A (p.Val95Met) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001245176] Chr20:44626535 [GRCh38]
Chr20:43255176 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.96-3C>T single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001245258] Chr20:44629172 [GRCh38]
Chr20:43257813 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.661G>A (p.Ala221Thr) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001233970] Chr20:44623024 [GRCh38]
Chr20:43251665 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.115C>G (p.Pro39Ala) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001142657] Chr20:44629150 [GRCh38]
Chr20:43257791 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.992A>C (p.Lys331Thr) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV001295966]|not provided [RCV000997776] Chr20:44620385 [GRCh38]
Chr20:43249026 [GRCh37]
Chr20:20q13.12		 uncertain significance
NM_000022.4(ADA):c.714C>T (p.His238=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000913533] Chr20:44622895 [GRCh38]
Chr20:43251536 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.732A>G (p.Glu244=) single nucleotide variant not provided [RCV000933838] Chr20:44622877 [GRCh38]
Chr20:43251518 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.387G>A (p.Val129=) single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000934115] Chr20:44625660 [GRCh38]
Chr20:43254301 [GRCh37]
Chr20:20q13.12		 likely benign
NM_000022.4(ADA):c.96-4C>T single nucleotide variant Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency [RCV000912966] Chr20:44629173 [GRCh38]
Chr20:43257814 [GRCh37]
Chr20:20q13.12