ITGB3 (integrin subunit beta 3) - Rat Genome Database

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Gene: ITGB3 (integrin subunit beta 3) Homo sapiens
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Symbol: ITGB3
Name: integrin subunit beta 3
RGD ID: 1345363
HGNC Page HGNC:6156
Description: Enables several functions, including fibronectin binding activity; protein disulfide isomerase activity; and signaling receptor binding activity. Contributes to C-X3-C chemokine binding activity and growth factor binding activity. Involved in several processes, including cell surface receptor signaling pathway; negative regulation of lipid localization; and negative regulation of macrophage derived foam cell differentiation. Acts upstream of or within negative regulation of low-density lipoprotein receptor activity. Located in several cellular components, including cell projection membrane; focal adhesion; and melanosome. Part of several cellular components, including alphav-beta3 integrin-HMGB1 complex; alphav-beta3 integrin-IGF-1-IGF1R complex; and integrin complex. Is active in glutamatergic synapse. Implicated in several diseases, including autoimmune thrombocytopenic purpura; blood platelet disease (multiple); end stage renal disease; myocardial infarction; and non-arteritic anterior ischemic optic neuropathy. Biomarker of several diseases, including Graves' disease; carcinoma (multiple); diabetic retinopathy; myelodysplastic syndrome; and platelet-type bleeding disorder 16.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: antigen CD61; BDPLT16; BDPLT2; BDPLT24; CD61; GP3A; GPIIIa; GT; GT2; integrin beta 3; integrin beta chain, beta 3; integrin beta-3; integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61); platelet glycoprotein IIIa; platelet membrane glycoprotein IIIa
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Candidate Gene For: BP90_H
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381747,253,827 - 47,313,743 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1747,253,827 - 47,313,743 (+)EnsemblGRCh38hg38GRCh38
GRCh371745,331,193 - 45,391,109 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361742,686,207 - 42,745,076 (+)NCBINCBI36Build 36hg18NCBI36
Build 341742,686,206 - 42,745,076NCBI
Celera1741,781,276 - 41,840,192 (+)NCBICelera
Cytogenetic Map17q21.32NCBI
HuRef1740,709,287 - 40,768,167 (+)NCBIHuRef
CHM1_11745,396,156 - 45,455,032 (+)NCBICHM1_1
T2T-CHM13v2.01748,116,181 - 48,176,126 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
Acute Coronary Syndrome  (EXP)
acute myeloid leukemia  (IMP,ISO)
Arterial Occlusive Diseases  (ISO)
arteriosclerosis  (ISO)
asthma  (IAGP)
autism spectrum disorder  (EXP)
autistic disorder  (EXP)
autoimmune thrombocytopenic purpura  (IDA,ISO)
bacterial pneumonia  (ISO)
Banti's Syndrome  (IAGP)
Bronchial Hyperreactivity  (IAGP)
Carotid Artery Injuries  (ISO)
carotid artery thrombosis  (EXP)
carotid stenosis  (ISO)
Cerebral Hemorrhage  (EXP)
colorectal carcinoma  (IEP)
Coronary Disease  (IAGP)
coronary thrombosis  (EXP)
diabetic retinopathy  (IEP)
end stage renal disease  (IAGP)
Endotoxemia  (ISO)
Experimental Arthritis  (ISO)
Experimental Diabetes Mellitus  (ISO)
Experimental Liver Cirrhosis  (EXP)
Experimental Mammary Neoplasms  (ISO)
focal segmental glomerulosclerosis  (ISO)
genetic disease  (IAGP)
Glanzmann Thrombasthenia 1  (IAGP)
Glanzmann Thrombasthenia 2  (IAGP)
Glanzmann's thrombasthenia  (EXP,IAGP,ISS)
Gliosis  (EXP)
glomerulonephritis  (IEP,ISO)
Graves' disease  (IEP)
Hantavirus hemorrhagic fever with renal syndrome  (IEP)
Hantavirus Infections  (ISO)
Hemorrhage  (EXP)
hemorrhagic disease  (IAGP)
hereditary breast ovarian cancer syndrome  (IAGP)
Hip Fractures  (EXP)
hyper IgE recurrent infection syndrome 1  (IAGP)
lung disease  (ISO)
lung non-small cell carcinoma  (IEP)
myelodysplastic syndrome  (IEP)
myocardial infarction  (EXP,IAGP,ISO)
Neonatal Alloimmune Thrombocytopenia  (EXP,IAGP)
Neoplasm Metastasis  (IAGP,ISO)
non-arteritic anterior ischemic optic neuropathy  (IAGP)
Pathologic Constriction  (IAGP)
Plaque, Atherosclerotic  (IAGP)
platelet-type bleeding disorder 16  (IAGP,IDA,IEP,ISS)
Platelet-Type Bleeding Disorder 24  (IAGP)
pneumonia  (ISO)
Posttransfusion Purpura  (IAGP)
Prostatic Neoplasms  (EXP)
Reperfusion Injury  (ISO)
Stroke  (EXP,IAGP,ISO)
Sudden Cardiac Death  (IAGP)
thrombocytopenia  (EXP,IAGP)
Thrombocytopenic Purpura  (IDA,ISO)
Thrombotic Microangiopathies  (IEP)
transient cerebral ischemia  (ISO)
Ulcer  (IAGP)
Venous Thrombosis  (IAGP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(S)-nicotine  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',5-triiodo-L-thyronine  (EXP)
3-Nitrobenzanthrone  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP,ISO)
acrolein  (EXP,ISO)
ADP  (EXP)
aldehydo-D-glucose  (EXP)
alpha-Zearalanol  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (EXP)
apocynin  (EXP)
arachidonic acid  (EXP)
Arg-Gly-Asp  (EXP)
arsenous acid  (EXP)
atrazine  (EXP,ISO)
Azoxymethane  (ISO)
benzene-1,2,4-triol  (EXP)
benzo[a]pyrene  (EXP)
beryllium sulfate  (EXP)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
Butylbenzyl phthalate  (ISO)
butyric acid  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (EXP)
cangrelor  (EXP)
cannabidiol  (EXP,ISO)
carbon disulfide  (ISO)
carbon nanotube  (ISO)
carmustine  (EXP,ISO)
chlordecone  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clomiphene  (EXP,ISO)
clopidogrel  (EXP)
cobalt dichloride  (EXP)
cocaine  (ISO)
curcumin  (ISO)
cycloheximide  (EXP)
cypermethrin  (ISO)
D-glucose  (EXP)
desferrioxamine B  (ISO)
dextran sulfate  (ISO)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
dibenziodolium  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (EXP,ISO)
diclofenac  (EXP)
diethyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dimethylarsinous acid  (EXP)
doxorubicin  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
fenofibrate  (ISO)
folic acid  (ISO)
gallic acid  (EXP)
geldanamycin  (EXP)
genistein  (EXP,ISO)
gentamycin  (ISO)
glucose  (EXP)
GW 4064  (EXP)
hydroquinone  (ISO)
hydroxysafflor yellow A  (ISO)
lead(0)  (EXP)
leuprolide  (EXP)
lipopolysaccharide  (EXP)
LY294002  (EXP)
mancozeb  (EXP)
manganese(II) chloride  (EXP,ISO)
methyl methanesulfonate  (EXP)
methyllycaconitine  (EXP)
midostaurin  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
monosodium L-glutamate  (ISO)
N-acetyl-L-cysteine  (EXP)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-formyl-L-methionyl-L-leucyl-L-phenylalanine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
niclosamide  (EXP,ISO)
nicotine  (EXP)
nitrates  (ISO)
nitric oxide  (EXP)
nitroprusside  (EXP)
orphenadrine  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
pentane-2,3-dione  (ISO)
perfluorooctanoic acid  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
quercetin  (EXP,ISO)
quinoline  (EXP)
raloxifene  (ISO)
resveratrol  (EXP)
Rutecarpine  (EXP)
serotonin  (EXP)
sevoflurane  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
Sophoricoside  (ISO)
sotorasib  (EXP)
sulindac  (EXP)
tamoxifen  (ISO)
Tellimagrandin I  (EXP)
tert-butyl hydroperoxide  (ISO)
thioacetamide  (ISO)
thyroxine  (EXP)
titanium dioxide  (ISO)
trametinib  (EXP)
tranilast  (ISO)
triadimefon  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP,ISO)
triclosan  (EXP)
triphenyl phosphate  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)
wortmannin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis involved in wound healing  (TAS)
apolipoprotein A-I-mediated signaling pathway  (IMP)
apoptotic cell clearance  (IEA,IGI)
blood coagulation  (TAS)
blood coagulation, fibrin clot formation  (IEA)
cell adhesion  (IEA,TAS)
cell adhesion mediated by integrin  (IBA,IDA,IMP)
cell migration  (IBA)
cell-matrix adhesion  (IBA,IEA,IMP,NAS)
cell-substrate adhesion  (IMP)
cell-substrate junction assembly  (IEA)
cellular response to insulin-like growth factor stimulus  (IEA,ISO)
cellular response to mechanical stimulus  (IEA,ISO)
cellular response to platelet-derived growth factor stimulus  (IEA)
cellular response to xenobiotic stimulus  (IEA,ISO)
embryo implantation  (IEA,ISO)
heterotypic cell-cell adhesion  (IMP)
integrin-mediated signaling pathway  (HDA,IBA,IEA,IMP,NAS,TAS)
maintenance of postsynaptic specialization structure  (IEA)
mesodermal cell differentiation  (IEP)
negative chemotaxis  (IMP)
negative regulation of endothelial cell apoptotic process  (IEA,ISO)
negative regulation of lipid storage  (IMP)
negative regulation of lipid transport  (IMP)
negative regulation of lipoprotein metabolic process  (IMP)
negative regulation of low-density lipoprotein particle clearance  (IMP)
negative regulation of macrophage derived foam cell differentiation  (IMP)
platelet activation  (IMP)
platelet aggregation  (IBA,IEA,IMP)
platelet-derived growth factor receptor signaling pathway  (IEA)
positive regulation of adenylate cyclase-inhibiting opioid receptor signaling pathway  (IEA,ISO)
positive regulation of angiogenesis  (IEA,ISO)
positive regulation of bone resorption  (IEA,ISO)
positive regulation of cell adhesion mediated by integrin  (IEA,ISO)
positive regulation of cell migration  (IEA)
positive regulation of cell-matrix adhesion  (IEA)
positive regulation of endothelial cell migration  (IMP)
positive regulation of endothelial cell proliferation  (IMP)
positive regulation of ERK1 and ERK2 cascade  (IEA,ISO)
positive regulation of fibroblast migration  (IEA,ISO)
positive regulation of fibroblast proliferation  (IEA)
positive regulation of gene expression  (IEA)
positive regulation of glomerular mesangial cell proliferation  (IEA,ISO)
positive regulation of leukocyte migration  (IEA,ISO)
positive regulation of osteoblast proliferation  (IEA)
positive regulation of smooth muscle cell migration  (IEA,ISO)
positive regulation of smooth muscle cell proliferation  (IEA,ISO)
positive regulation of substrate adhesion-dependent cell spreading  (IEA)
positive regulation of T cell migration  (IEA)
positive regulation of vascular endothelial growth factor receptor signaling pathway  (TAS)
positive regulation of vascular endothelial growth factor signaling pathway  (IMP)
regulation of actin cytoskeleton organization  (IEA)
regulation of bone resorption  (TAS)
regulation of extracellular matrix organization  (IEA)
regulation of G protein-coupled receptor signaling pathway  (IEA,ISO)
regulation of postsynaptic neurotransmitter receptor diffusion trapping  (IEA)
regulation of postsynaptic neurotransmitter receptor internalization  (EXP,IDA,IMP)
regulation of protein localization  (IEA,ISS)
regulation of protein tyrosine kinase activity  (ISO)
regulation of release of sequestered calcium ion into cytosol  (IEA,ISO)
regulation of serotonin uptake  (IEA,ISS)
regulation of trophoblast cell migration  (IEA)
response to activity  (IEA,ISO)
response to platelet-derived growth factor  (IEA,ISO)
smooth muscle cell migration  (IMP)
substrate adhesion-dependent cell spreading  (IDA)
tube development  (TAS)
wound healing  (IC)
wound healing, spreading of epidermal cells  (NAS)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal bleeding  (IAGP)
Abnormal platelet aggregation  (IAGP)
Abnormality of the nervous system  (IAGP)
Abnormality of thrombocytes  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Blindness  (IAGP)
Bruising susceptibility  (IAGP)
Cephalohematoma  (IAGP)
Cerebral palsy  (IAGP)
Decreased platelet glycoprotein IIb-IIIa  (IAGP)
Ecchymosis  (IAGP)
Epistaxis  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Gingival bleeding  (IAGP)
Global developmental delay  (IAGP)
Hematuria  (IAGP)
Hypercholesterolemia  (IAGP)
Impaired ADP-induced platelet aggregation  (IAGP)
Impaired arachidonic acid-induced platelet aggregation  (IAGP)
Impaired clot retraction  (IAGP)
Impaired collagen-induced platelet aggregation  (IAGP)
Impaired collagen-related peptide-induced platelet aggregation  (IAGP)
Impaired epinephrine-induced platelet aggregation  (IAGP)
Impaired ristocetin-induced platelet aggregation  (IAGP)
Impaired thrombin-induced platelet aggregation  (IAGP)
Impaired thromboxane A2 agonist-induced platelet aggregation  (IAGP)
Increased mean platelet volume  (IAGP)
Intracranial hemorrhage  (IAGP)
Macroscopic hematuria  (IAGP)
Macrothrombocytopenia  (IAGP)
Melena  (IAGP)
Menometrorrhagia  (IAGP)
Menorrhagia  (IAGP)
Neonatal alloimmune thrombocytopenia  (IAGP)
Neonatal onset  (IAGP)
Petechiae  (IAGP)
Platelet anisocytosis  (IAGP)
Prolonged bleeding after dental extraction  (IAGP)
Prolonged bleeding after surgery  (IAGP)
Prolonged bleeding following circumcision  (IAGP)
Prolonged bleeding time  (IAGP)
Purpura  (IAGP)
Renal cell carcinoma  (IAGP)
Spontaneous hematomas  (IAGP)
Spontaneous, recurrent epistaxis  (IAGP)
Subarachnoid hemorrhage  (IAGP)
Thrombocytopenia  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Surgical injury enhances the expression of genes that mediate breast cancer metastasis to the lung. Al-Sahaf O, etal., Ann Surg. 2010 Dec;252(6):1037-43.
2. PLA1/A2 polymorphism of the platelet glycoprotein receptors IIIA in Behcet's disease. Atzeni F, etal., Clin Exp Rheumatol. 2011 Jul-Aug;29(4 Suppl 67):S38-43. Epub 2011 Sep 27.
3. Analysis of inherited thrombophilic mutations and natural anticoagulant deficiency in patients with idiopathic portal hypertension. Bayan K, etal., J Thromb Thrombolysis. 2009 Jul;28(1):57-62. doi: 10.1007/s11239-008-0244-8. Epub 2008 Aug 7.
4. Structure and function of the platelet integrin alphaIIbbeta3. Bennett JS J Clin Invest. 2005 Dec;115(12):3363-9.
5. Cross-reactive antibodies between HIV-gp120 and platelet gpIIIa (CD61) in HIV-related immune thrombocytopenic purpura. Bettaieb A, etal., Clin Exp Immunol. 1996 Jan;103(1):19-23.
6. Increased prevalence of microthromboses in retinal capillaries of diabetic individuals. Boeri D, etal., Diabetes. 2001 Jun;50(6):1432-9.
7. Identification of an abnormal gene for the GPIIIa subunit of the platelet fibrinogen receptor resulting in Glanzmann's thrombasthenia. Bray PF and Shuman MA, Blood. 1990 Feb 15;75(4):881-8.
8. Integrin alpha v beta 3 antagonists promote tumor regression by inducing apoptosis of angiogenic blood vessels. Brooks PC, etal., Cell. 1994 Dec 30;79(7):1157-64. doi: 10.1016/0092-8674(94)90007-8.
9. Inhibition of the intimal hyperplasia in an arterial autograft model by blockade of the N-terminal of the integrin beta3 subunit by monoclonal antibody P37. Bujan J, etal., Platelets. 1997;8(5):337-47.
10. Connection between integrins and cell activation in rat adrenal glomerulosa cells: a role for Arg-Gly-Asp peptide in the activation of the p42/p44(mapk) pathway and intracellular calcium. Campbell S, etal., Endocrinology. 2003 Apr;144(4):1486-95.
11. Association of the platelet Pl(A) polymorphism of glycoprotein IIb/IIIa and the fibrinogen Bbeta 448 polymorphism with myocardial infarction and extent of coronary artery disease. Carter AM, etal., Circulation. 1997 Sep 2;96(5):1424-31.
12. Platelet GP IIIA polymorphism HPA-1 (PLA1/2) is associated with hypertension as the primary cause for end-stage renal disease in hemodialysis patients from Greece. Chiras T, etal., In Vivo. 2009 Jan-Feb;23(1):177-81.
13. Beta3-integrin mediates smooth muscle cell accumulation in neointima after carotid ligation in mice. Choi ET, etal., Circulation. 2004 Mar 30;109(12):1564-9. Epub 2004 Mar 8.
14. Comparative study of myelodysplastic syndromes and normal bone marrow biopsies with conventional staining and immunocytochemistry. Das R, etal., Anal Quant Cytol Histol. 2005 Jun;27(3):152-6.
15. Analysis of combined treatment of embolic stroke in rat with r-tPA and a GPIIb/IIIa inhibitor. Ding G, etal., J Cereb Blood Flow Metab. 2005 Jan;25(1):87-97.
16. Coronary thrombosis and the platelet glycoprotein IIIA gene PLA2 polymorphism. Durante-Mangoni E, etal., Thromb Haemost. 1998 Aug;80(2):218-9.
17. Different biochemical expression pattern of platelet surface glycoproteins suggests molecular diversity of Glanzmann's thrombasthenia in Iran. Farsinejad A, etal., Blood Coagul Fibrinolysis. 2013 Sep;24(6):613-8. doi: 10.1097/MBC.0b013e328360a558.
18. Thrombophilic risk factors in the pathogenesis of non-arteritic anterior ischemic optic neuropathy patients. Felekis T, etal., Graefes Arch Clin Exp Ophthalmol. 2010 Jun;248(6):877-84. doi: 10.1007/s00417-010-1308-y. Epub 2010 Feb 17.
19. Natural history of platelet antibody formation against alphaIIbbeta3 in a French cohort of Glanzmann thrombasthenia patients. Fiore M, etal., Haemophilia. 2012 May;18(3):e201-9. doi: 10.1111/j.1365-2516.2011.02744.x. Epub 2012 Jan 18.
20. The GPIIIA PlA2 polymorphism is associated with an increased risk of cardiovascular adverse events. Galasso G, etal., BMC Cardiovasc Disord. 2010 Sep 16;10:41.
21. Identification of mimotopes of platelet autoantigens associated with autoimmune thrombocytopenic purpura. Gevorkian G, etal., J Autoimmun. 2000 Aug;15(1):33-40.
22. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
23. Higher prevalence of GPIIIa PlA2 polymorphism in siblings of patients with premature coronary heart disease. Goldschmidt-Clermont PJ, etal., Arch Pathol Lab Med. 1999 Dec;123(12):1223-9.
24. Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families. Gresele P, etal., Haematologica. 2009 May;94(5):663-9. doi: 10.3324/haematol.2008.002246. Epub 2009 Mar 31.
25. Allogeneic platelet transfusions prevent murine T-cell-mediated immune thrombocytopenia. Guo L, etal., Blood. 2014 Jan 16;123(3):422-7. doi: 10.1182/blood-2013-08-523308. Epub 2013 Nov 20.
26. Inhibition of angiogenesis by interleukin-4 gene therapy in rat adjuvant-induced arthritis. Haas CS, etal., Arthritis Rheum. 2006 Aug;54(8):2402-14.
27. Distribution of alphavbeta3, alphavbeta5 integrins and the integrin associated protein--IAP (CD47) in human glomerular diseases. Hafdi Z, etal., Cell Adhes Commun. 2000;7(6):441-51.
28. Blockade of integrin beta3-FAK signaling pathway activated by osteopontin inhibits neointimal formation after balloon injury. Han M, etal., Cardiovasc Pathol. 2007 Sep-Oct;16(5):283-90. Epub 2007 Jun 20.
29. The relationship between polymorphisms in the endothelial cell nitric oxide synthase gene and the platelet GPIIIa gene with myocardial infarction and venous thromboembolism in African Americans. Hooper WC, etal., Chest. 1999 Oct;116(4):880-6.
30. Expression of integrin subunits alphav and beta3 in acute lung inflammation. Janardhan KS, etal., Histochem Cell Biol. 2004 May;121(5):383-90. Epub 2004 Apr 28.
31. Genetic variation in platelet integrin alphabeta (GPIIb/IIIa) and the metastatic potential of renal cell carcinoma. Kallio JP, etal., BJU Int. 2006 Jul;98(1):201-4.
32. Differential regulation of osteopontin receptors, CD44 and the alpha(v) and beta(3) integrin subunits, in the rat hippocampus following transient forebrain ischemia. Kang WS, etal., Brain Res. 2008 Sep 4;1228:208-16. Epub 2008 Jul 3.
33. Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia. Kannan M, etal., J Thromb Haemost. 2009 Nov;7(11):1878-85. doi: 10.1111/j.1538-7836.2009.03579.x. Epub 2009 Aug 19.
34. Latent transforming growth factor-beta binding protein-1, a component of latent transforming growth factor-beta complex, accelerates the migration of aortic smooth muscle cells in diabetic rats through integrin-beta3. Kanzaki T and Otabe M, Diabetes. 2003 Mar;52(3):824-8.
35. Association of the platelet GPIIb/IIIa polymorphism with atherosclerotic plaque morphology: the Atherosclerosis Risk in Communities (ARIC) Study. Kucharska-Newton AM, etal., Atherosclerosis. 2011 May;216(1):151-6. doi: 10.1016/j.atherosclerosis.2011.01.038. Epub 2011 Feb 2.
36. Intensity of platelet beta(3) integrin in patients with hemorrhagic fever with renal syndrome and its correlation with disease severity. Liu Z, etal., Viral Immunol. 2008 Jun;21(2):255-62.
37. Basic fibroblast growth factor-2/beta3 integrin expression profile: signature of local progression after chemoradiotherapy for patients with locally advanced non-small-cell lung cancer. Massabeau C, etal., Int J Radiat Oncol Biol Phys. 2009 Nov 1;75(3):696-702. Epub 2009 Apr 20.
38. Genes that characterize T3-predominant Graves' thyroid tissues. Matsumoto C, etal., Eur J Endocrinol. 2013 Jan 17;168(2):137-44. doi: 10.1530/EJE-12-0507. Print 2013 Feb.
39. Platelet CD61 expression in vascular calcineurin inhibitor toxicity of renal allografts. Meehan SM, etal., Hum Pathol. 2008 Apr;39(4):550-6. doi: 10.1016/j.humpath.2007.08.012. Epub 2008 Jan 30.
40. In Vivo RNAi screening identifies a leukemia-specific dependence on integrin beta 3 signaling. Miller PG, etal., Cancer Cell. 2013 Jul 8;24(1):45-58. doi: 10.1016/j.ccr.2013.05.004. Epub 2013 Jun 13.
41. Synthetic RGDS peptide attenuates lipopolysaccharide-induced pulmonary inflammation by inhibiting integrin signaled MAP kinase pathways. Moon C, etal., Respir Res. 2009 Mar 9;10:18.
42. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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49. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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PMID:24939290   PMID:24942591   PMID:24950982   PMID:24954475   PMID:24959655   PMID:24975416   PMID:24979111   PMID:24988220   PMID:24988537   PMID:24994675   PMID:25002124   PMID:25041835  
PMID:25058375   PMID:25063885   PMID:25066397   PMID:25117682   PMID:25150423   PMID:25167197   PMID:25193465   PMID:25280596   PMID:25313583   PMID:25329616   PMID:25373348   PMID:25378411  
PMID:25378659   PMID:25398877   PMID:25430721   PMID:25464604   PMID:25472585   PMID:25474888   PMID:25497015   PMID:25558779   PMID:25604835   PMID:25609252   PMID:25632962   PMID:25643034  
PMID:25644401   PMID:25663698   PMID:25684064   PMID:25720532   PMID:25749383   PMID:25792870   PMID:25806962   PMID:25808196   PMID:25824336   PMID:25824726   PMID:25827233   PMID:25849143  
PMID:25858145   PMID:25889845   PMID:25900259   PMID:25924850   PMID:25926101   PMID:25979232   PMID:26115412   PMID:26139991   PMID:26165836   PMID:26261166   PMID:26283883   PMID:26301697  
PMID:26344197   PMID:26359510   PMID:26384307   PMID:26391523   PMID:26440977   PMID:26500056   PMID:26514956   PMID:26517522   PMID:26578516   PMID:26621838   PMID:26631735   PMID:26688324  
PMID:26717039   PMID:26739544   PMID:26781040   PMID:26800504   PMID:26809135   PMID:26829726   PMID:26840189   PMID:26867579   PMID:26902100   PMID:27003228   PMID:27011248   PMID:27019315  
PMID:27044755   PMID:27085460   PMID:27108184   PMID:27145276   PMID:27221710   PMID:27233075   PMID:27235542   PMID:27239844   PMID:27248172   PMID:27283740   PMID:27340869   PMID:27371729  
PMID:27405521   PMID:27420801   PMID:27487131   PMID:27488401   PMID:27553273   PMID:27576787   PMID:27606892   PMID:27633757   PMID:27695111   PMID:27746115   PMID:27782833   PMID:27784794  
PMID:27800304   PMID:27805237   PMID:27808476   PMID:27819680   PMID:27906177   PMID:27927700   PMID:27929375   PMID:27965976   PMID:28005267   PMID:28019029   PMID:28068952   PMID:28077433  
PMID:28081621   PMID:28086938   PMID:28186591   PMID:28273461   PMID:28302677   PMID:28358707   PMID:28388872   PMID:28428218   PMID:28487468   PMID:28604748   PMID:28646039   PMID:28650456  
PMID:28652408   PMID:28680094   PMID:28695371   PMID:28790378   PMID:28791461   PMID:28855208   PMID:28873464   PMID:28931556   PMID:28935175   PMID:28948953   PMID:29021578   PMID:29024385  
PMID:29084015   PMID:29125375   PMID:29152665   PMID:29153978   PMID:29276177   PMID:29380037   PMID:29449217   PMID:29449539   PMID:29461866   PMID:29577899   PMID:29603594   PMID:29675921  
PMID:29709564   PMID:29729708   PMID:29776956   PMID:29855470   PMID:29882028   PMID:29899108   PMID:29932420   PMID:29965811   PMID:30018079   PMID:30074214   PMID:30098419   PMID:30190457  
PMID:30209215   PMID:30261890   PMID:30305279   PMID:30333317   PMID:30367545   PMID:30391782   PMID:30458180   PMID:30552383   PMID:30563517   PMID:30623482   PMID:30655611   PMID:30791508  
PMID:30804189   PMID:30823921   PMID:30914039   PMID:31066035   PMID:31085188   PMID:31331973   PMID:31366904   PMID:31429823   PMID:31511539   PMID:31532212   PMID:31541017   PMID:31684995  
PMID:31693219   PMID:31836852   PMID:31859394   PMID:31930844   PMID:32089034   PMID:32164941   PMID:32237906   PMID:32344835   PMID:32370146   PMID:32513696   PMID:32514015   PMID:32558238  
PMID:32681389   PMID:32709711   PMID:32757229   PMID:32770549   PMID:32777252   PMID:32817592   PMID:32848136   PMID:32894234   PMID:32988382   PMID:33039264   PMID:33083904   PMID:33111431  
PMID:33134374   PMID:33259230   PMID:33267658   PMID:33276370   PMID:33299895   PMID:33436498   PMID:33456563   PMID:33576766   PMID:33600779   PMID:33693877   PMID:33880575   PMID:34066320  
PMID:34104098   PMID:34275420   PMID:34375384   PMID:34404052   PMID:34440692   PMID:34555778   PMID:34588619   PMID:34635968   PMID:35038961   PMID:35044719   PMID:35163668   PMID:35338135  
PMID:35534983   PMID:35599981   PMID:35777302   PMID:36130933   PMID:36225252   PMID:36591264   PMID:36669646   PMID:36772869   PMID:36884296   PMID:36937472   PMID:37059927   PMID:37184585  
PMID:37280310   PMID:37716584   PMID:38009896   PMID:38016540   PMID:38081783   PMID:38117590   PMID:38195194   PMID:38496616   PMID:38561495   PMID:38579706   PMID:38588407   PMID:38777146  
PMID:38960036   PMID:39201327   PMID:39273058   PMID:39441936  


Genomics

Comparative Map Data
ITGB3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381747,253,827 - 47,313,743 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1747,253,827 - 47,313,743 (+)EnsemblGRCh38hg38GRCh38
GRCh371745,331,193 - 45,391,109 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361742,686,207 - 42,745,076 (+)NCBINCBI36Build 36hg18NCBI36
Build 341742,686,206 - 42,745,076NCBI
Celera1741,781,276 - 41,840,192 (+)NCBICelera
Cytogenetic Map17q21.32NCBI
HuRef1740,709,287 - 40,768,167 (+)NCBIHuRef
CHM1_11745,396,156 - 45,455,032 (+)NCBICHM1_1
T2T-CHM13v2.01748,116,181 - 48,176,126 (+)NCBIT2T-CHM13v2.0
Itgb3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911104,498,826 - 104,561,302 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl11104,498,826 - 104,561,302 (+)EnsemblGRCm39 Ensembl
GRCm3811104,608,000 - 104,670,476 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11104,608,000 - 104,670,476 (+)EnsemblGRCm38mm10GRCm38
MGSCv3711104,469,314 - 104,531,787 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3611104,424,146 - 104,483,465 (+)NCBIMGSCv36mm8
Celera11116,336,310 - 116,392,711 (+)NCBICelera
Cytogenetic Map11E1NCBI
cM Map1167.84NCBI
Itgb3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81090,009,927 - 90,067,787 (+)NCBIGRCr8
mRatBN7.21089,509,917 - 89,564,679 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1089,509,989 - 89,564,679 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1094,545,884 - 94,600,315 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01094,009,074 - 94,063,507 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01089,414,016 - 89,475,939 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01092,667,869 - 92,783,413 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1092,667,869 - 92,783,410 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01092,424,545 - 92,538,859 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera1088,202,821 - 88,257,185 (+)NCBICelera
Cytogenetic Map10q32.1NCBI
Itgb3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554789,788,149 - 9,823,746 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554789,788,192 - 9,830,254 (-)NCBIChiLan1.0ChiLan1.0
ITGB3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21917,697,521 - 17,760,403 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11719,665,154 - 19,725,972 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01710,134,450 - 10,194,596 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11710,353,111 - 10,388,924 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1710,353,111 - 10,392,382 (-)Ensemblpanpan1.1panPan2
ITGB3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.199,179,667 - 9,231,061 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl99,182,562 - 9,231,451 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha911,065,645 - 11,114,120 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0910,772,116 - 10,823,763 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl910,772,333 - 10,825,024 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.199,787,282 - 9,835,753 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0917,686,480 - 17,734,963 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0917,635,354 - 17,683,846 (+)NCBIUU_Cfam_GSD_1.0
Itgb3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560216,320,810 - 16,379,027 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365412,815,738 - 2,871,035 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365412,822,789 - 2,871,069 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ITGB3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1216,693,514 - 16,752,292 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11216,694,466 - 16,752,228 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21216,718,915 - 16,775,379 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ITGB3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11659,372,171 - 59,431,434 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1659,374,889 - 59,410,857 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607730,082,743 - 30,143,493 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Itgb3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248491,895,914 - 1,952,665 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248491,895,378 - 1,952,755 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ITGB3
792 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2		 pathogenic
NM_000212.3(ITGB3):c.165+1G>T single nucleotide variant Glanzmann thrombasthenia 2 [RCV000014527] Chr17:47274505 [GRCh38]
Chr17:45351871 [GRCh37]
Chr17:17q21.32		 pathogenic
NG_008332.2:g.48605_58661del deletion Glanzmann thrombasthenia 2 [RCV000014531] Chr17:17q21.32 pathogenic
ITGB3, 11-BP DEL, EX12 deletion Glanzmann thrombasthenia 2 [RCV000014534] Chr17:17q21.32 pathogenic
NM_000212.3(ITGB3):c.683G>A (p.Arg228His) single nucleotide variant Glanzmann thrombasthenia [RCV001580211]|not provided [RCV002573260] Chr17:47286328 [GRCh38]
Chr17:45363694 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.437T>C (p.Leu146Pro) single nucleotide variant Glanzmann thrombasthenia [RCV001580212]|not specified [RCV005057528] Chr17:47284518 [GRCh38]
Chr17:45361884 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro) single nucleotide variant Glanzmann thrombasthenia 1 [RCV002254211]|Glanzmann thrombasthenia [RCV001290457]|not provided [RCV003558796] Chr17:47286310 [GRCh38]
Chr17:45363676 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.392G>C (p.Arg131Pro) single nucleotide variant Glanzmann thrombasthenia [RCV001580244]|not provided [RCV003546709] Chr17:47284473 [GRCh38]
Chr17:45361839 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1031A>G (p.Tyr344Cys) single nucleotide variant Glanzmann thrombasthenia [RCV001580246] Chr17:47289772 [GRCh38]
Chr17:45367138 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1373A>G (p.Asp458Gly) single nucleotide variant Fetal and neonatal alloimmune thrombocytopenia [RCV000515766] Chr17:47292251 [GRCh38]
Chr17:45369617 [GRCh37]
Chr17:17q21.32		 likely pathogenic|association
NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln) single nucleotide variant Glanzmann thrombasthenia 2 [RCV000014512]|Glanzmann thrombasthenia [RCV001580254]|Myocardial infarction, susceptibility to [RCV004795409]|Platelet-type bleeding disorder 16 [RCV002243642]|not provided [RCV003137524] Chr17:47286364 [GRCh38]
Chr17:45363730 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.433G>T (p.Asp145Tyr) single nucleotide variant Glanzmann thrombasthenia 2 [RCV001374370]|Glanzmann thrombasthenia [RCV000014513] Chr17:47284514 [GRCh38]
Chr17:45361880 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp) single nucleotide variant Glanzmann thrombasthenia 1 [RCV002243643]|Glanzmann thrombasthenia 2 [RCV000014514]|Glanzmann thrombasthenia [RCV001580253]|not provided [RCV002513046] Chr17:47286363 [GRCh38]
Chr17:45363729 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.2332T>C (p.Ser778Pro) single nucleotide variant Glanzmann thrombasthenia 2 [RCV000014515]|Glanzmann thrombasthenia [RCV001801832] Chr17:47310169 [GRCh38]
Chr17:45387535 [GRCh37]
Chr17:17q21.32		 pathogenic|uncertain significance
NM_000212.3(ITGB3):c.506G>A (p.Arg169Gln) single nucleotide variant Glanzmann thrombasthenia [RCV001124484]|PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM [RCV000014516]|not provided [RCV000861957]|not specified [RCV001818157] Chr17:47284587 [GRCh38]
Chr17:45361953 [GRCh37]
Chr17:17q21.32		 pathogenic|benign
NM_000212.3(ITGB3):c.176T>C (p.Leu59Pro) single nucleotide variant Glanzmann thrombasthenia [RCV000383813]|Myocardial infarction, susceptibility to [RCV001799606]|PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM [RCV000014519]|not provided [RCV001517663]|not specified [RCV000246922] Chr17:47283364 [GRCh38]
Chr17:47283364..47283365 [GRCh38]
Chr17:45360730 [GRCh37]
Chr17:45360730..45360731 [GRCh37]
Chr17:17q21.32		 pathogenic|risk factor|benign|likely benign
NM_000212.3(ITGB3):c.1297C>G (p.Pro433Ala) single nucleotide variant Mo ALLOANTIGEN POLYMORPHISM [RCV000014525]|not provided [RCV005089253]|not specified [RCV001818158] Chr17:47292175 [GRCh38]
Chr17:45369541 [GRCh37]
Chr17:17q21.32		 pathogenic|benign|uncertain significance
NM_000212.3(ITGB3):c.1544G>A (p.Arg515Gln) single nucleotide variant Ca/Tu ALLOANTIGEN POLYMORPHISM [RCV000014528]|Glanzmann thrombasthenia [RCV001127592]|not provided [RCV000862496] Chr17:47292422 [GRCh38]
Chr17:45369788 [GRCh37]
Chr17:17q21.32		 pathogenic|benign|uncertain significance
NM_000212.3(ITGB3):c.1199G>A (p.Cys400Tyr) single nucleotide variant Glanzmann thrombasthenia 2 [RCV000014530]|Glanzmann thrombasthenia [RCV001801833]|not provided [RCV003556015] Chr17:47291027 [GRCh38]
Chr17:45368393 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter) single nucleotide variant Glanzmann thrombasthenia 1 [RCV002243644]|Glanzmann thrombasthenia 2 [RCV001374371]|Glanzmann thrombasthenia [RCV000014532]|Hyper-IgE recurrent infection syndrome 1, autosomal dominant [RCV004813040]|Myocardial infarction, susceptibility to [RCV005016261]|Platelet-type bleeding disorder 16 [RCV001335177]|not provided [RCV003128571] Chr17:47307584 [GRCh38]
Chr17:45384950 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.1924G>T (p.Glu642Ter) single nucleotide variant Glanzmann thrombasthenia 2 [RCV000014533]|Glanzmann thrombasthenia [RCV001801834]|not provided [RCV001851854] Chr17:47300488 [GRCh38]
Chr17:45377854 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.428T>G (p.Leu143Trp) single nucleotide variant Glanzmann thrombasthenia 1 [RCV003448246]|Glanzmann thrombasthenia 2 [RCV000014535]|Glanzmann thrombasthenia [RCV001580250]|Myocardial infarction, susceptibility to [RCV005016262]|not provided [RCV003736537] Chr17:47284509 [GRCh38]
Chr17:45361875 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.836A>T (p.Lys279Met) single nucleotide variant Glanzmann thrombasthenia 2 [RCV000014536]|Glanzmann thrombasthenia [RCV001580229]|not provided [RCV003556016] Chr17:47287128 [GRCh38]
Chr17:45364494 [GRCh37]
Chr17:17q21.32		 pathogenic|uncertain significance
NM_000212.3(ITGB3):c.740G>A (p.Gly247Asp) single nucleotide variant Glanzmann thrombasthenia 2 [RCV000014537]|Glanzmann thrombasthenia [RCV001580231] Chr17:47286385 [GRCh38]
Chr17:45363751 [GRCh37]
Chr17:17q21.32		 pathogenic|uncertain significance
NM_000212.3(ITGB3):c.2245G>C (p.Asp749His) single nucleotide variant Bleeding disorder, platelet-type, 24 [RCV000043480] Chr17:47307581 [GRCh38]
Chr17:45384947 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.2134+1G>C single nucleotide variant Bleeding disorder, platelet-type, 24 [RCV000043481]|not provided [RCV003556118] Chr17:47302841 [GRCh38]
Chr17:45380207 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.2231T>C (p.Leu744Pro) single nucleotide variant Bleeding disorder, platelet-type, 24 [RCV000043482] Chr17:47307567 [GRCh38]
Chr17:45384933 [GRCh37]
Chr17:17q21.32		 pathogenic|uncertain significance
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3		 pathogenic
GRCh38/hg38 17q21.31-21.33(chr17:44955325-49381173)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052480]|See cases [RCV000052480] Chr17:44955325..49381173 [GRCh38]
Chr17:43032693..47458535 [GRCh37]
Chr17:40388219..44813534 [NCBI36]
Chr17:17q21.31-21.33		 pathogenic
NM_000212.3(ITGB3):c.1801T>G (p.Cys601Gly) single nucleotide variant Glanzmann thrombasthenia [RCV001290476] Chr17:47299418 [GRCh38]
Chr17:45376784 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.940-2A>G single nucleotide variant Glanzmann thrombasthenia [RCV001290484] Chr17:47289679 [GRCh38]
Chr17:45367045 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.647A>G (p.Tyr216Cys) single nucleotide variant Glanzmann thrombasthenia 2 [RCV002222694]|Glanzmann thrombasthenia [RCV001290496] Chr17:47286292 [GRCh38]
Chr17:45363658 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.724C>T (p.Arg242Ter) single nucleotide variant Glanzmann thrombasthenia [RCV001290458]|not provided [RCV003558797] Chr17:47286369 [GRCh38]
Chr17:45363735 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1913+1G>A single nucleotide variant Glanzmann thrombasthenia [RCV001290473] Chr17:47299531 [GRCh38]
Chr17:45376897 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.2356C>T (p.Arg786Trp) single nucleotide variant Glanzmann thrombasthenia [RCV001290477] Chr17:47310193 [GRCh38]
Chr17:45387559 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.356G>A (p.Arg119Gln) single nucleotide variant Glanzmann thrombasthenia [RCV001290502]|Myocardial infarction, susceptibility to [RCV005014337]|not provided [RCV001376908] Chr17:47283544 [GRCh38]
Chr17:45360910 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.353T>A (p.Leu118His) single nucleotide variant Glanzmann thrombasthenia [RCV001290460]|ITGB3-related disorder [RCV003393952]|Myocardial infarction, susceptibility to [RCV005014333]|not provided [RCV004699276]|not specified [RCV005057219] Chr17:47283541 [GRCh38]
Chr17:45360907 [GRCh37]
Chr17:17q21.32		 likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.940G>T (p.Asp314Tyr) single nucleotide variant Glanzmann thrombasthenia [RCV001290470] Chr17:47289681 [GRCh38]
Chr17:45367047 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.431T>G (p.Met144Arg) single nucleotide variant Glanzmann thrombasthenia 2 [RCV002222693]|Glanzmann thrombasthenia [RCV001290482]|Myocardial infarction, susceptibility to [RCV005014335] Chr17:47284512 [GRCh38]
Chr17:45361878 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1		 pathogenic
chr17:45008570..45994044 complex variant complex Breast ductal adenocarcinoma [RCV000207217] Chr17:45008570..45994044 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.40G>A (p.Val14Met) single nucleotide variant Glanzmann thrombasthenia [RCV000364007]|not provided [RCV000224944] Chr17:47253901 [GRCh38]
Chr17:45331267 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_000212.3(ITGB3):c.1129dup (p.Ile377fs) duplication Glanzmann thrombasthenia [RCV001803408] Chr17:47290953..47290954 [GRCh38]
Chr17:45368319..45368320 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.2147G>T (p.Gly716Val) single nucleotide variant Glanzmann thrombasthenia [RCV001803426] Chr17:47307483 [GRCh38]
Chr17:45384849 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.921C>A (p.Tyr307Ter) single nucleotide variant Glanzmann thrombasthenia 2 [RCV004728822]|Glanzmann thrombasthenia [RCV001803442] Chr17:47287213 [GRCh38]
Chr17:45364579 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1545G>A (p.Arg515=) single nucleotide variant Glanzmann thrombasthenia [RCV000394843]|not provided [RCV001517498]|not specified [RCV000241947] Chr17:47292423 [GRCh38]
Chr17:45369789 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.2301+9C>T single nucleotide variant Glanzmann thrombasthenia [RCV000328155]|not provided [RCV001514002]|not specified [RCV000242227] Chr17:47307646 [GRCh38]
Chr17:45385012 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.342T>C (p.Ile114=) single nucleotide variant Glanzmann thrombasthenia [RCV000294139]|not provided [RCV000861532]|not specified [RCV000247222] Chr17:47283530 [GRCh38]
Chr17:45360896 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_000212.3(ITGB3):c.882T>C (p.Pro294=) single nucleotide variant Glanzmann thrombasthenia [RCV000389557]|not provided [RCV001522059]|not specified [RCV000252166] Chr17:47287174 [GRCh38]
Chr17:45364540 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.1143A>C (p.Val381=) single nucleotide variant Glanzmann thrombasthenia [RCV000336334]|not provided [RCV000826426]|not specified [RCV000245014] Chr17:47290971 [GRCh38]
Chr17:45368337 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.1533A>G (p.Glu511=) single nucleotide variant Glanzmann thrombasthenia [RCV000337655]|not provided [RCV001517497]|not specified [RCV000249975] Chr17:47292411 [GRCh38]
Chr17:45369777 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.1914-19T>C single nucleotide variant not provided [RCV001689783]|not specified [RCV000250257] Chr17:47300459 [GRCh38]
Chr17:45377825 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.-7G>C single nucleotide variant Glanzmann thrombasthenia [RCV000323268]|not provided [RCV004709426]|not specified [RCV000253013] Chr17:47253855 [GRCh38]
Chr17:45331221 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_000212.3(ITGB3):c.*1154G>A single nucleotide variant Glanzmann thrombasthenia [RCV000275727]|not provided [RCV004705355] Chr17:47311358 [GRCh38]
Chr17:45388724 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.985A>G (p.Asn329Asp) single nucleotide variant Glanzmann thrombasthenia [RCV000295402]|ITGB3-related disorder [RCV004730932]|not provided [RCV001850730]|not specified [RCV003993931] Chr17:47289726 [GRCh38]
Chr17:45367092 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*1714T>C single nucleotide variant Glanzmann thrombasthenia [RCV000264275] Chr17:47311918 [GRCh38]
Chr17:45389284 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*517C>T single nucleotide variant Glanzmann thrombasthenia [RCV000281181] Chr17:47310721 [GRCh38]
Chr17:45388087 [GRCh37]
Chr17:17q21.32		 benign|uncertain significance
NM_000212.3(ITGB3):c.57G>T (p.Ala19=) single nucleotide variant Glanzmann thrombasthenia [RCV000269300]|not provided [RCV000882901] Chr17:47253918 [GRCh38]
Chr17:45331284 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_000212.3(ITGB3):c.*1960G>A single nucleotide variant Glanzmann thrombasthenia [RCV000344235] Chr17:47312164 [GRCh38]
Chr17:45389530 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2208C>T (p.Ala736=) single nucleotide variant Glanzmann thrombasthenia [RCV000273271]|not provided [RCV000860925] Chr17:47307544 [GRCh38]
Chr17:45384910 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_000212.3(ITGB3):c.*713A>G single nucleotide variant Glanzmann thrombasthenia [RCV000310133]|not provided [RCV004709686] Chr17:47310917 [GRCh38]
Chr17:45388283 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_000212.3(ITGB3):c.*12C>T single nucleotide variant Glanzmann thrombasthenia [RCV000274287] Chr17:47310216 [GRCh38]
Chr17:45387582 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*919C>T single nucleotide variant Glanzmann thrombasthenia [RCV000311001] Chr17:47311123 [GRCh38]
Chr17:45388489 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2131C>T (p.Pro711Ser) single nucleotide variant Glanzmann thrombasthenia [RCV000363147]|not provided [RCV002521113]|not specified [RCV004701411] Chr17:47302837 [GRCh38]
Chr17:45380203 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1309_1311del (p.Glu437del) deletion Glanzmann thrombasthenia [RCV000282576] Chr17:47292185..47292187 [GRCh38]
Chr17:45369551..45369553 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*439C>G single nucleotide variant Glanzmann thrombasthenia [RCV000261055] Chr17:47310643 [GRCh38]
Chr17:45388009 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2328C>T (p.Ala776=) single nucleotide variant Glanzmann thrombasthenia [RCV000368829]|not provided [RCV003718188] Chr17:47310165 [GRCh38]
Chr17:45387531 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.*1016T>A single nucleotide variant Glanzmann thrombasthenia [RCV000370303]|not provided [RCV001534995] Chr17:47311220 [GRCh38]
Chr17:45388586 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.*2327G>A single nucleotide variant Glanzmann thrombasthenia [RCV000350219] Chr17:47312531 [GRCh38]
Chr17:47312531..47312532 [GRCh38]
Chr17:45389897 [GRCh37]
Chr17:45389897..45389898 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_000212.3(ITGB3):c.*480T>C single nucleotide variant Glanzmann thrombasthenia [RCV000375461] Chr17:47310684 [GRCh38]
Chr17:45388050 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.58C>T (p.Leu20=) single nucleotide variant Glanzmann thrombasthenia [RCV000329008]|not provided [RCV000882902] Chr17:47253919 [GRCh38]
Chr17:45331285 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_000212.3(ITGB3):c.*1542C>T single nucleotide variant Glanzmann thrombasthenia [RCV000377543] Chr17:47311746 [GRCh38]
Chr17:45389112 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2085C>T (p.Tyr695=) single nucleotide variant Glanzmann thrombasthenia [RCV000308557]|not provided [RCV002522983] Chr17:47302791 [GRCh38]
Chr17:45380157 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.537C>T (p.Phe179=) single nucleotide variant Glanzmann thrombasthenia [RCV000330332]|ITGB3-related disorder [RCV003922372]|not provided [RCV000864149]|not specified [RCV001820973] Chr17:47284618 [GRCh38]
Chr17:45361984 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.*639G>A single nucleotide variant Glanzmann thrombasthenia [RCV000376795]|not provided [RCV004709684] Chr17:47310843 [GRCh38]
Chr17:45388209 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_000212.3(ITGB3):c.1299C>T (p.Pro433=) single nucleotide variant Glanzmann thrombasthenia [RCV000402523]|not provided [RCV000862107] Chr17:47292177 [GRCh38]
Chr17:45369543 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.*671C>T single nucleotide variant Glanzmann thrombasthenia [RCV000287057]|not provided [RCV004709685] Chr17:47310875 [GRCh38]
Chr17:45388241 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_000212.3(ITGB3):c.*1817T>A single nucleotide variant Glanzmann thrombasthenia [RCV000378750] Chr17:47312021 [GRCh38]
Chr17:45389387 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1985G>A (p.Arg662His) single nucleotide variant Glanzmann thrombasthenia [RCV000394836]|not provided [RCV001820974] Chr17:47300549 [GRCh38]
Chr17:45377915 [GRCh37]
Chr17:17q21.32		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000212.3(ITGB3):c.*1985T>C single nucleotide variant Glanzmann thrombasthenia [RCV000384745] Chr17:47312189 [GRCh38]
Chr17:45389555 [GRCh37]
Chr17:17q21.32		 benign|uncertain significance
NM_000212.3(ITGB3):c.*805AAG[1] microsatellite Glanzmann thrombasthenia [RCV000399041] Chr17:47311007..47311009 [GRCh38]
Chr17:45388373..45388375 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*460A>G single nucleotide variant Glanzmann thrombasthenia [RCV000316231] Chr17:47310664 [GRCh38]
Chr17:45388030 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1902C>T (p.Cys634=) single nucleotide variant Glanzmann thrombasthenia [RCV000360979]|ITGB3-related disorder [RCV003957658]|not provided [RCV003546526] Chr17:47299519 [GRCh38]
Chr17:45376885 [GRCh37]
Chr17:17q21.32		 benign|likely benign|uncertain significance
NM_000212.3(ITGB3):c.*1479T>C single nucleotide variant Glanzmann thrombasthenia [RCV000263313] Chr17:47311683 [GRCh38]
Chr17:45389049 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_000212.3(ITGB3):c.1558G>A (p.Val520Ile) single nucleotide variant Glanzmann thrombasthenia [RCV000301602] Chr17:47292436 [GRCh38]
Chr17:45369802 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*271C>G single nucleotide variant Glanzmann thrombasthenia [RCV000388343] Chr17:47310475 [GRCh38]
Chr17:45387841 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*2455A>C single nucleotide variant Glanzmann thrombasthenia [RCV000405279] Chr17:47312659 [GRCh38]
Chr17:45390025 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_000212.3(ITGB3):c.*1527A>G single nucleotide variant Glanzmann thrombasthenia [RCV000318423] Chr17:47311731 [GRCh38]
Chr17:45389097 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*1331A>G single nucleotide variant Glanzmann thrombasthenia [RCV000353439] Chr17:47311535 [GRCh38]
Chr17:45388901 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.774T>A (p.Cys258Ter) single nucleotide variant Glanzmann thrombasthenia 1 [RCV002254214]|Glanzmann thrombasthenia [RCV001580213] Chr17:47286419 [GRCh38]
Chr17:45363785 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.2030A>T (p.Asp677Val) single nucleotide variant not provided [RCV003314822] Chr17:47302736 [GRCh38]
Chr17:45380102 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1960G>A (p.Glu654Lys) single nucleotide variant Glanzmann thrombasthenia [RCV001123488]|ITGB3-related disorder [RCV003947691]|Platelet-type bleeding disorder 16 [RCV000490340]|not provided [RCV000865543] Chr17:47300524 [GRCh38]
Chr17:45377890 [GRCh37]
Chr17:17q21.32		 benign|likely benign|uncertain significance
NM_000212.3(ITGB3):c.1157G>C (p.Arg386Pro) single nucleotide variant not provided [RCV002288020] Chr17:47290985 [GRCh38]
Chr17:45368351 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*674G>T single nucleotide variant Glanzmann thrombasthenia [RCV000345080] Chr17:47310878 [GRCh38]
Chr17:45388244 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*699C>T single nucleotide variant Glanzmann thrombasthenia [RCV000399019] Chr17:47310903 [GRCh38]
Chr17:45388269 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*758C>G single nucleotide variant Glanzmann thrombasthenia [RCV000346309] Chr17:47310962 [GRCh38]
Chr17:45388328 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*126G>C single nucleotide variant Glanzmann thrombasthenia [RCV000334108] Chr17:47310330 [GRCh38]
Chr17:45387696 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*1226ATTTT[2] microsatellite Glanzmann thrombasthenia [RCV000298517] Chr17:47311430..47311434 [GRCh38]
Chr17:45388796..45388800 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*1804A>G single nucleotide variant Glanzmann thrombasthenia [RCV000324155] Chr17:47312008 [GRCh38]
Chr17:45389374 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*553_*555del deletion Glanzmann thrombasthenia [RCV000340893] Chr17:47310757..47310759 [GRCh38]
Chr17:45388123..45388125 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*1932C>G single nucleotide variant Glanzmann thrombasthenia [RCV000289280] Chr17:47312136 [GRCh38]
Chr17:45389502 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*2030C>A single nucleotide variant Glanzmann thrombasthenia [RCV000290414] Chr17:47312234 [GRCh38]
Chr17:45389600 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.62C>T (p.Ala21Val) single nucleotide variant Glanzmann thrombasthenia [RCV003464114]|not provided [RCV000523191] Chr17:47253923 [GRCh38]
Chr17:45331289 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2302-1G>A single nucleotide variant Glanzmann thrombasthenia [RCV001580256] Chr17:47310138 [GRCh38]
Chr17:45387504 [GRCh37]
Chr17:17q21.32		 likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.1699C>T (p.Gln567Ter) single nucleotide variant Abnormal bleeding [RCV000414924]|Glanzmann thrombasthenia [RCV003221967]|Platelet-type bleeding disorder 16 [RCV001197459] Chr17:47299316 [GRCh38]
Chr17:45376682 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.749A>G (p.Asp250Gly) single nucleotide variant Abnormal bleeding [RCV000415046]|Glanzmann thrombasthenia [RCV003221968]|Platelet-type bleeding disorder 16 [RCV001197460] Chr17:47286394 [GRCh38]
Chr17:45363760 [GRCh37]
Chr17:17q21.32		 likely pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3		 pathogenic
NM_000212.3(ITGB3):c.201G>A (p.Lys67=) single nucleotide variant Glanzmann thrombasthenia [RCV001123377]|not provided [RCV002524207]|not specified [RCV000499408] Chr17:47283389 [GRCh38]
Chr17:45360755 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.1976G>C (p.Arg659Pro) single nucleotide variant not specified [RCV000502969] Chr17:47300540 [GRCh38]
Chr17:45377906 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.900T>C (p.His300=) single nucleotide variant Glanzmann thrombasthenia [RCV001124488]|ITGB3-related disorder [RCV003960168]|not provided [RCV000862369]|not specified [RCV000500857] Chr17:47287192 [GRCh38]
Chr17:45364558 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000212.3(ITGB3):c.2221T>C (p.Trp741Arg) single nucleotide variant not provided [RCV000513182] Chr17:47307557 [GRCh38]
Chr17:45384923 [GRCh37]
Chr17:17q21.32		 uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17q21.32(chr17:45307927-45447839)x1 copy number loss not provided [RCV000683939] Chr17:45307927..45447839 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.761A>G (p.Gln254Arg) single nucleotide variant Glanzmann thrombasthenia [RCV000851871] Chr17:47286406 [GRCh38]
Chr17:45363772 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1409dup (p.Asn470fs) duplication Glanzmann thrombasthenia [RCV000852023]|not provided [RCV003558574] Chr17:47292285..47292286 [GRCh38]
Chr17:45369651..45369652 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.2227CTC[1] (p.Leu744del) microsatellite Thrombocytopenia [RCV000852078]|not provided [RCV002533976] Chr17:47307563..47307565 [GRCh38]
Chr17:45384929..45384931 [GRCh37]
Chr17:17q21.32		 likely pathogenic|uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
NM_000212.3(ITGB3):c.2196C>T (p.Leu732=) single nucleotide variant Glanzmann thrombasthenia [RCV001123490]|ITGB3-related disorder [RCV003938219]|not provided [RCV000862264] Chr17:47307532 [GRCh38]
Chr17:45384898 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.2015-85T>C single nucleotide variant not provided [RCV001680556] Chr17:47302636 [GRCh38]
Chr17:45380002 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.325del (p.Val109fs) deletion Glanzmann thrombasthenia [RCV000761244] Chr17:47283513 [GRCh38]
Chr17:45360879 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.778-2A>G single nucleotide variant Glanzmann thrombasthenia [RCV000761245]|Myocardial infarction, susceptibility to [RCV005021151]|not provided [RCV003558560] Chr17:47287068 [GRCh38]
Chr17:45364434 [GRCh37]
Chr17:17q21.32		 likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.355C>T (p.Arg119Trp) single nucleotide variant Glanzmann thrombasthenia [RCV001003532]|not specified [RCV004587011] Chr17:47283543 [GRCh38]
Chr17:45360909 [GRCh37]
Chr17:17q21.32		 likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser) single nucleotide variant Glanzmann thrombasthenia 2 [RCV004689952]|Glanzmann thrombasthenia [RCV001003533]|Myocardial infarction, susceptibility to [RCV005021313]|not provided [RCV003727835] Chr17:47284646 [GRCh38]
Chr17:45362012 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.614+1G>T single nucleotide variant Glanzmann thrombasthenia [RCV001580218] Chr17:47284696 [GRCh38]
Chr17:45362062 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.614+234C>T single nucleotide variant not provided [RCV001641524] Chr17:47284929 [GRCh38]
Chr17:45362295 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.778-40_778-36del microsatellite not provided [RCV001680494] Chr17:47287025..47287029 [GRCh38]
Chr17:45364391..45364395 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.1035+102G>C single nucleotide variant not provided [RCV001643951] Chr17:47289878 [GRCh38]
Chr17:45367244 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.165+8G>A single nucleotide variant ITGB3-related disorder [RCV003903078]|not provided [RCV000929331] Chr17:47274512 [GRCh38]
Chr17:45351878 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.414G>C (p.Val138=) single nucleotide variant Glanzmann thrombasthenia [RCV003235426]|not provided [RCV000869775] Chr17:47284495 [GRCh38]
Chr17:45361861 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.273G>A (p.Glu91=) single nucleotide variant Glanzmann thrombasthenia [RCV003330323]|not provided [RCV000928927] Chr17:47283461 [GRCh38]
Chr17:45360827 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.1764G>C (p.Thr588=) single nucleotide variant Glanzmann thrombasthenia [RCV002511001]|not provided [RCV000937778] Chr17:47299381 [GRCh38]
Chr17:45376747 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.433G>A (p.Asp145Asn) single nucleotide variant Glanzmann thrombasthenia 2 [RCV004798869]|Glanzmann thrombasthenia [RCV000851787] Chr17:47284514 [GRCh38]
Chr17:45361880 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.187C>T (p.Arg63Cys) single nucleotide variant Glanzmann thrombasthenia [RCV000778500]|not specified [RCV004800581] Chr17:47283375 [GRCh38]
Chr17:45360741 [GRCh37]
Chr17:17q21.32		 likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.362-1G>A single nucleotide variant Glanzmann thrombasthenia [RCV000778501] Chr17:47284442 [GRCh38]
Chr17:45361808 [GRCh37]
Chr17:17q21.32		 likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.197T>G (p.Leu66Arg) single nucleotide variant Abnormal bleeding [RCV001270572]|Glanzmann thrombasthenia [RCV001123376]|ITGB3-related disorder [RCV004731047]|not provided [RCV000860861]|not specified [RCV004689904] Chr17:47283385 [GRCh38]
Chr17:45360751 [GRCh37]
Chr17:17q21.32		 benign|likely benign|uncertain significance
NM_000212.3(ITGB3):c.970A>G (p.Lys324Glu) single nucleotide variant Glanzmann thrombasthenia [RCV003222152]|ITGB3-related disorder [RCV003928334]|not provided [RCV000861656] Chr17:47289711 [GRCh38]
Chr17:45367077 [GRCh37]
Chr17:17q21.32		 likely benign|conflicting interpretations of pathogenicity
NM_000212.3(ITGB3):c.1641C>T (p.Cys547=) single nucleotide variant Glanzmann thrombasthenia [RCV002254715]|not provided [RCV000863394] Chr17:47292519 [GRCh38]
Chr17:45369885 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.2175A>G (p.Ser725=) single nucleotide variant not provided [RCV000869146] Chr17:47307511 [GRCh38]
Chr17:45384877 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1557C>T (p.Pro519=) single nucleotide variant not provided [RCV000869151] Chr17:47292435 [GRCh38]
Chr17:45369801 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1800G>A (p.Leu600=) single nucleotide variant Glanzmann thrombasthenia [RCV001127594]|ITGB3-related disorder [RCV004751758]|not provided [RCV000861118] Chr17:47299417 [GRCh38]
Chr17:45376783 [GRCh37]
Chr17:17q21.32		 benign|likely benign|uncertain significance
NM_000212.3(ITGB3):c.285C>T (p.Leu95=) single nucleotide variant Glanzmann thrombasthenia [RCV001123379]|ITGB3-related disorder [RCV003948071]|not provided [RCV000862487]|not specified [RCV001816947] Chr17:47283473 [GRCh38]
Chr17:45360839 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.2128G>A (p.Glu710Lys) single nucleotide variant Abnormal bleeding [RCV000852067] Chr17:47302834 [GRCh38]
Chr17:45380200 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.263G>A (p.Arg88Gln) single nucleotide variant Glanzmann thrombasthenia [RCV000852096] Chr17:47283451 [GRCh38]
Chr17:45360817 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.856G>C (p.Gly286Arg) single nucleotide variant Abnormal bleeding [RCV000851903]|Glanzmann thrombasthenia [RCV002510970] Chr17:47287148 [GRCh38]
Chr17:45364514 [GRCh37]
Chr17:17q21.32		 likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.55dup (p.Ala19fs) duplication Glanzmann thrombasthenia [RCV000851823] Chr17:47253911..47253912 [GRCh38]
Chr17:45331277..45331278 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.1640G>A (p.Cys547Tyr) single nucleotide variant Glanzmann thrombasthenia [RCV002254718]|not provided [RCV001055159] Chr17:47292518 [GRCh38]
Chr17:45369884 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.727G>C (p.Asp243His) single nucleotide variant Glanzmann thrombasthenia 2 [RCV004761848]|Glanzmann thrombasthenia [RCV000985156] Chr17:47286372 [GRCh38]
Chr17:45363738 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.754A>G (p.Ile252Val) single nucleotide variant Glanzmann thrombasthenia [RCV001124486]|not provided [RCV000861463] Chr17:47286399 [GRCh38]
Chr17:45363765 [GRCh37]
Chr17:17q21.32		 benign|uncertain significance
NM_000212.3(ITGB3):c.1089C>T (p.Ser363=) single nucleotide variant Glanzmann thrombasthenia [RCV003222171]|not provided [RCV000914294] Chr17:47290238 [GRCh38]
Chr17:45367604 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.1366A>C (p.Thr456Pro) single nucleotide variant Glanzmann thrombasthenia [RCV000851688] Chr17:47292244 [GRCh38]
Chr17:45369610 [GRCh37]
Chr17:17q21.32		 likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.777+1G>A single nucleotide variant Glanzmann thrombasthenia 2 [RCV003152747]|Glanzmann thrombasthenia [RCV001580245]|Myocardial infarction, susceptibility to [RCV005021384]|not provided [RCV001055160] Chr17:47286423 [GRCh38]
Chr17:45363789 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1807G>A (p.Gly603Ser) single nucleotide variant Glanzmann thrombasthenia [RCV001127595]|Macrothrombocytopenia [RCV000852056] Chr17:47299424 [GRCh38]
Chr17:45376790 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.362-30G>A single nucleotide variant Glanzmann thrombasthenia [RCV001225243]|not provided [RCV004710261] Chr17:47284413 [GRCh38]
Chr17:45361779 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.1458C>G (p.Cys486Trp) single nucleotide variant Glanzmann thrombasthenia [RCV001225244] Chr17:47292336 [GRCh38]
Chr17:45369702 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.2015-29_2134+24del deletion Macrothrombocytopenia [RCV000852270] Chr17:47302692..47302864 [GRCh38]
Chr17:45380058..45380230 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.953T>C (p.Leu318Ser) single nucleotide variant Glanzmann thrombasthenia [RCV001225261] Chr17:47289694 [GRCh38]
Chr17:45367060 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1913+5G>T single nucleotide variant Glanzmann thrombasthenia [RCV001225277]|Myocardial infarction, susceptibility to [RCV005014258]|not provided [RCV003558756] Chr17:47299535 [GRCh38]
Chr17:45376901 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.877C>T (p.Gln293Ter) single nucleotide variant Glanzmann thrombasthenia [RCV001225285] Chr17:47287169 [GRCh38]
Chr17:45364535 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.79+1G>A single nucleotide variant Glanzmann thrombasthenia [RCV001225287]|Myocardial infarction, susceptibility to [RCV005014259]|not provided [RCV005094124] Chr17:47253941 [GRCh38]
Chr17:45331307 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.2113del (p.Leu705fs) deletion Glanzmann thrombasthenia [RCV001225288]|ITGB3-related disorder [RCV004751928]|not provided [RCV003558757] Chr17:47302818 [GRCh38]
Chr17:45380184 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.224del (p.Cys75fs) deletion Glanzmann thrombasthenia [RCV001225301] Chr17:47283412 [GRCh38]
Chr17:45360778 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1302G>C (p.Gln434His) single nucleotide variant Abnormal platelet aggregation [RCV000852012] Chr17:47292180 [GRCh38]
Chr17:45369546 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1447T>C (p.Cys483Arg) single nucleotide variant Macrothrombocytopenia [RCV000852030] Chr17:47292325 [GRCh38]
Chr17:45369691 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2224A>G (p.Lys742Glu) single nucleotide variant Thrombocytopenia [RCV000852077]|not provided [RCV002533975] Chr17:47307560 [GRCh38]
Chr17:45384926 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1109T>C (p.Ile370Thr) single nucleotide variant not provided [RCV004791731]|not specified [RCV004783494] Chr17:47290258 [GRCh38]
Chr17:45367624 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2260G>A (p.Ala754Thr) single nucleotide variant Inborn genetic diseases [RCV003270370] Chr17:47307596 [GRCh38]
Chr17:45384962 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*2081T>G single nucleotide variant Glanzmann thrombasthenia [RCV001124659] Chr17:47312285 [GRCh38]
Chr17:45389651 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*1349G>C single nucleotide variant Glanzmann thrombasthenia [RCV001123586] Chr17:47311553 [GRCh38]
Chr17:45388919 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1132C>T (p.Arg378Cys) single nucleotide variant Bleeding disorder, platelet-type, 24 [RCV001564043] Chr17:47290960 [GRCh38]
Chr17:45368326 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1265G>A (p.Ser422Asn) single nucleotide variant Glanzmann thrombasthenia [RCV001580224] Chr17:47292143 [GRCh38]
Chr17:45369509 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1522del (p.Gln508fs) deletion Glanzmann thrombasthenia [RCV001580227] Chr17:47292398 [GRCh38]
Chr17:45369764 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1094A>G (p.Asn365Ser) single nucleotide variant Glanzmann thrombasthenia [RCV001580232] Chr17:47290243 [GRCh38]
Chr17:45367609 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.662C>T (p.Thr221Met) single nucleotide variant Glanzmann thrombasthenia [RCV001580258] Chr17:47286307 [GRCh38]
Chr17:45363673 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1543del (p.Arg515fs) deletion Glanzmann thrombasthenia [RCV001580262] Chr17:47292417 [GRCh38]
Chr17:45369783 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1261G>A (p.Val421Met) single nucleotide variant Glanzmann thrombasthenia [RCV001580214] Chr17:47292139 [GRCh38]
Chr17:45369505 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1456del (p.Cys486fs) deletion Glanzmann thrombasthenia [RCV001580233] Chr17:47292334 [GRCh38]
Chr17:45369700 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1031A>C (p.Tyr344Ser) single nucleotide variant Glanzmann thrombasthenia [RCV001580247]|Myocardial infarction, susceptibility to [RCV005014597]|not provided [RCV002573261] Chr17:47289772 [GRCh38]
Chr17:45367138 [GRCh37]
Chr17:17q21.32		 likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.2080C>T (p.Gln694Ter) single nucleotide variant Glanzmann thrombasthenia [RCV001580261]|not provided [RCV003558844] Chr17:47302786 [GRCh38]
Chr17:45380152 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.615-316C>A single nucleotide variant not provided [RCV001595244] Chr17:47285944 [GRCh38]
Chr17:45363310 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.557C>T (p.Pro186Leu) single nucleotide variant Glanzmann thrombasthenia [RCV003222153]|ITGB3-related disorder [RCV003965652]|not provided [RCV000862152]|not specified [RCV001816941] Chr17:47284638 [GRCh38]
Chr17:45362004 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.180C>T (p.Gly60=) single nucleotide variant Glanzmann thrombasthenia [RCV001123375]|not provided [RCV000865002]|not specified [RCV003994138] Chr17:47283368 [GRCh38]
Chr17:45360734 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.1959C>T (p.Asp653=) single nucleotide variant ITGB3-related disorder [RCV003938215]|not provided [RCV000861932]|not specified [RCV001816937] Chr17:47300523 [GRCh38]
Chr17:45377889 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_000212.3(ITGB3):c.2014+1G>A single nucleotide variant Glanzmann thrombasthenia [RCV001225241] Chr17:47300579 [GRCh38]
Chr17:45377945 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.115T>G (p.Cys39Gly) single nucleotide variant Glanzmann thrombasthenia [RCV001225279] Chr17:47274454 [GRCh38]
Chr17:45351820 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1791del (p.Asn597fs) deletion Glanzmann thrombasthenia [RCV001225286]|not provided [RCV005094123] Chr17:47299408 [GRCh38]
Chr17:45376774 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.774_775del (p.Cys258_Asp259delinsTer) microsatellite Glanzmann thrombasthenia [RCV001225289] Chr17:47286417..47286418 [GRCh38]
Chr17:45363783..45363784 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.448A>G (p.Met150Val) single nucleotide variant Bleeding disorder, platelet-type, 24 [RCV002280901]|Glanzmann thrombasthenia 1 [RCV002254202]|Glanzmann thrombasthenia 2 [RCV002281175]|Glanzmann thrombasthenia [RCV001225290]|not provided [RCV003558758] Chr17:47284529 [GRCh38]
Chr17:45361895 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.1550del (p.Gly517fs) deletion Glanzmann thrombasthenia [RCV001225297] Chr17:47292426 [GRCh38]
Chr17:45369792 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.505C>T (p.Arg169Ter) single nucleotide variant Glanzmann thrombasthenia 2 [RCV004561999]|Glanzmann thrombasthenia [RCV001225299] Chr17:47284586 [GRCh38]
Chr17:45361952 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.19C>T (p.Pro7Ser) single nucleotide variant Glanzmann thrombasthenia [RCV001127480] Chr17:47253880 [GRCh38]
Chr17:45331246 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*185T>G single nucleotide variant Glanzmann thrombasthenia [RCV001124575] Chr17:47310389 [GRCh38]
Chr17:45387755 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*1959C>T single nucleotide variant Glanzmann thrombasthenia [RCV001124658] Chr17:47312163 [GRCh38]
Chr17:45389529 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1157G>A (p.Arg386His) single nucleotide variant Glanzmann thrombasthenia [RCV001125482] Chr17:47290985 [GRCh38]
Chr17:45368351 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1459C>T (p.Arg487Cys) single nucleotide variant Bleeding disorder, platelet-type, 24 [RCV003147592]|Glanzmann thrombasthenia [RCV001125485]|Myocardial infarction, susceptibility to [RCV002482242]|not provided [RCV002558237] Chr17:47292337 [GRCh38]
Chr17:45369703 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1468C>T (p.Pro490Ser) single nucleotide variant Inborn genetic diseases [RCV002901179] Chr17:47292346 [GRCh38]
Chr17:45369712 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1835G>A (p.Cys612Tyr) single nucleotide variant Glanzmann thrombasthenia 2 [RCV003989697]|Glanzmann thrombasthenia [RCV001580223] Chr17:47299452 [GRCh38]
Chr17:45376818 [GRCh37]
Chr17:17q21.32		 likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.259G>C (p.Ala87Pro) single nucleotide variant not provided [RCV003327861] Chr17:47283447 [GRCh38]
Chr17:45360813 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2302-113A>G single nucleotide variant not provided [RCV001688657] Chr17:47310026 [GRCh38]
Chr17:45387392 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.2302-230A>G single nucleotide variant not provided [RCV001595708] Chr17:47309909 [GRCh38]
Chr17:45387275 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.1784_1802delinsGTCACA (p.Ser595fs) indel Glanzmann thrombasthenia [RCV001803416] Chr17:47299401..47299419 [GRCh38]
Chr17:45376767..45376785 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1980C>A (p.Tyr660Ter) single nucleotide variant Glanzmann thrombasthenia [RCV001803427] Chr17:47300544 [GRCh38]
Chr17:45377910 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.2085_2087del (p.Tyr696del) deletion See cases [RCV002252943] Chr17:47302789..47302791 [GRCh38]
Chr17:45380155..45380157 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2014+5G>A single nucleotide variant Glanzmann thrombasthenia [RCV002254792] Chr17:47300583 [GRCh38]
Chr17:45377949 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1814G>A (p.Gly605Asp) single nucleotide variant Glanzmann thrombasthenia [RCV002254796] Chr17:47299431 [GRCh38]
Chr17:45376797 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.415G>C (p.Asp139His) single nucleotide variant Glanzmann thrombasthenia [RCV002254818] Chr17:47284496 [GRCh38]
Chr17:45361862 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.383T>G (p.Ile128Ser) single nucleotide variant Glanzmann thrombasthenia [RCV004819034] Chr17:47284464 [GRCh38]
Chr17:45361830 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.2014+97C>T single nucleotide variant not provided [RCV001541324] Chr17:47300675 [GRCh38]
Chr17:45378041 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.1125+29G>A single nucleotide variant not provided [RCV001619105] Chr17:47290303 [GRCh38]
Chr17:45367669 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.79+52C>G single nucleotide variant not provided [RCV001619135] Chr17:47253992 [GRCh38]
Chr17:45331358 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.2015-201A>G single nucleotide variant not provided [RCV001608429] Chr17:47302520 [GRCh38]
Chr17:45379886 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.615-80G>T single nucleotide variant not provided [RCV001714100] Chr17:47286180 [GRCh38]
Chr17:45363546 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.79+121G>A single nucleotide variant not provided [RCV001696441] Chr17:47254061 [GRCh38]
Chr17:45331427 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.939+22A>G single nucleotide variant not provided [RCV001715017] Chr17:47287253 [GRCh38]
Chr17:45364619 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.1914-267G>T single nucleotide variant not provided [RCV001678476] Chr17:47300211 [GRCh38]
Chr17:45377577 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.1125+175GAAG[11] microsatellite not provided [RCV001677830] Chr17:47290448..47290449 [GRCh38]
Chr17:45367814..45367815 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.1914-136C>T single nucleotide variant not provided [RCV001617605] Chr17:47300342 [GRCh38]
Chr17:45377708 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.1125+41C>T single nucleotide variant not provided [RCV001635606] Chr17:47290315 [GRCh38]
Chr17:47290315..47290316 [GRCh38]
Chr17:45367681 [GRCh37]
Chr17:45367681..45367682 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.1801T>C (p.Cys601Arg) single nucleotide variant Glanzmann thrombasthenia 2 [RCV004801041]|Glanzmann thrombasthenia [RCV001580240]|not provided [RCV003558843] Chr17:47299418 [GRCh38]
Chr17:45376784 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.728A>T (p.Asp243Val) single nucleotide variant Glanzmann thrombasthenia [RCV001580220] Chr17:47286373 [GRCh38]
Chr17:45363739 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.614+285C>T single nucleotide variant not provided [RCV001617370] Chr17:47284980 [GRCh38]
Chr17:45362346 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.361+204T>G single nucleotide variant not provided [RCV001669860] Chr17:47283753 [GRCh38]
Chr17:45361119 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.1914-139_1914-138insTG insertion not provided [RCV001656465] Chr17:47300338..47300339 [GRCh38]
Chr17:45377704..45377705 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.346C>T (p.Leu116Phe) single nucleotide variant Bleeding disorder, platelet-type, 24 [RCV002261286]|Glanzmann thrombasthenia [RCV001124483]|not provided [RCV005093576] Chr17:47283534 [GRCh38]
Chr17:45360900 [GRCh37]
Chr17:17q21.32		 likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.670G>A (p.Asp224Asn) single nucleotide variant Glanzmann thrombasthenia [RCV001124485]|Inborn genetic diseases [RCV004986823]|not provided [RCV002556697] Chr17:47286315 [GRCh38]
Chr17:45363681 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1143A>T (p.Val381=) single nucleotide variant Glanzmann thrombasthenia [RCV001125481]|ITGB3-related disorder [RCV003906238]|not provided [RCV002556718] Chr17:47290971 [GRCh38]
Chr17:45368337 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_000212.3(ITGB3):c.*2117G>T single nucleotide variant Glanzmann thrombasthenia [RCV001125664] Chr17:47312321 [GRCh38]
Chr17:45389687 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.*2404T>C single nucleotide variant Glanzmann thrombasthenia [RCV001125666] Chr17:47312608 [GRCh38]
Chr17:45389974 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.261C>G (p.Ala87=) single nucleotide variant Glanzmann thrombasthenia [RCV001123378]|not provided [RCV003669190] Chr17:47283449 [GRCh38]
Chr17:45360815 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.*1041T>C single nucleotide variant Glanzmann thrombasthenia [RCV001127679] Chr17:47311245 [GRCh38]
Chr17:45388611 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1984C>T (p.Arg662Cys) single nucleotide variant Glanzmann thrombasthenia [RCV001123489]|not provided [RCV005093565]|not specified [RCV003317434] Chr17:47300548 [GRCh38]
Chr17:45377914 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.191G>A (p.Cys64Tyr) single nucleotide variant Glanzmann thrombasthenia [RCV001580251] Chr17:47283379 [GRCh38]
Chr17:45360745 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.72C>T (p.Gly24=) single nucleotide variant Glanzmann thrombasthenia [RCV001123374]|not provided [RCV002556664] Chr17:47253933 [GRCh38]
Chr17:45331299 [GRCh37]
Chr17:17q21.32		 benign|likely benign
NM_000212.3(ITGB3):c.1605C>T (p.His535=) single nucleotide variant Glanzmann thrombasthenia [RCV001127593]|not provided [RCV003679041] Chr17:47292483 [GRCh38]
Chr17:45369849 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.*739C>T single nucleotide variant Glanzmann thrombasthenia [RCV001127678] Chr17:47310943 [GRCh38]
Chr17:45388309 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*1292G>T single nucleotide variant Glanzmann thrombasthenia [RCV001127680] Chr17:47311496 [GRCh38]
Chr17:45388862 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*1505G>T single nucleotide variant Glanzmann thrombasthenia [RCV001123587] Chr17:47311709 [GRCh38]
Chr17:45389075 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2015-644_2134+2135del deletion Increased mean platelet volume [RCV001003846] Chr17:47302077..47304975 [GRCh38]
Chr17:45379443..45382341 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.939+125C>T single nucleotide variant not provided [RCV001709370] Chr17:47287356 [GRCh38]
Chr17:45364722 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.1914-134C>T single nucleotide variant not provided [RCV001684307] Chr17:47300344 [GRCh38]
Chr17:45377710 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.361+132G>A single nucleotide variant not provided [RCV001724652] Chr17:47283681 [GRCh38]
Chr17:45361047 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.80-266C>G single nucleotide variant not provided [RCV001537425] Chr17:47274153 [GRCh38]
Chr17:45351519 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.1594T>C (p.Cys532Arg) single nucleotide variant Glanzmann thrombasthenia [RCV001225242] Chr17:47292472 [GRCh38]
Chr17:45369838 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.175C>G (p.Leu59Val) single nucleotide variant Glanzmann thrombasthenia [RCV001225300] Chr17:47283363 [GRCh38]
Chr17:45360729 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2331G>A (p.Thr777=) single nucleotide variant Glanzmann thrombasthenia [RCV001124572]|not provided [RCV003688911] Chr17:47310168 [GRCh38]
Chr17:45387534 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.*89G>A single nucleotide variant Glanzmann thrombasthenia [RCV001124573] Chr17:47310293 [GRCh38]
Chr17:45387659 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*90G>C single nucleotide variant Glanzmann thrombasthenia [RCV001124574] Chr17:47310294 [GRCh38]
Chr17:45387660 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1232C>T (p.Ser411Phe) single nucleotide variant Glanzmann thrombasthenia [RCV001125483]|not provided [RCV003736991] Chr17:47291060 [GRCh38]
Chr17:45368426 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.*2263T>C single nucleotide variant Glanzmann thrombasthenia [RCV001125665] Chr17:47312467 [GRCh38]
Chr17:45389833 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1702T>C (p.Cys568Arg) single nucleotide variant Glanzmann thrombasthenia [RCV001225240] Chr17:47299319 [GRCh38]
Chr17:45376685 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1030dup (p.Tyr344fs) duplication Glanzmann thrombasthenia [RCV001225260] Chr17:47289770..47289771 [GRCh38]
Chr17:45367136..45367137 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.16C>T (p.Arg6Trp) single nucleotide variant Glanzmann thrombasthenia [RCV001127479]|not provided [RCV002556788] Chr17:47253877 [GRCh38]
Chr17:45331243 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.*1585A>C single nucleotide variant Glanzmann thrombasthenia [RCV001123588] Chr17:47311789 [GRCh38]
Chr17:45389155 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.889G>A (p.Gly297Arg) single nucleotide variant Glanzmann thrombasthenia [RCV001124487] Chr17:47287181 [GRCh38]
Chr17:45364547 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.31T>C (p.Trp11Arg) single nucleotide variant Glanzmann thrombasthenia 2 [RCV004587079]|Glanzmann thrombasthenia [RCV001225262]|Myocardial infarction, susceptibility to [RCV005021540]|not provided [RCV001360644] Chr17:47253892 [GRCh38]
Chr17:45331258 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.1125+29G>C single nucleotide variant Glanzmann thrombasthenia [RCV001225298] Chr17:47290303 [GRCh38]
Chr17:45367669 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1260+11C>T single nucleotide variant Glanzmann thrombasthenia [RCV001125484] Chr17:47291099 [GRCh38]
Chr17:45368465 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1595G>A (p.Cys532Tyr) single nucleotide variant Glanzmann thrombasthenia [RCV001225239] Chr17:47292473 [GRCh38]
Chr17:45369839 [GRCh37]
Chr17:17q21.32		 likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.122_125dup (p.Cys42Ter) duplication Glanzmann thrombasthenia [RCV001225265] Chr17:47274460..47274461 [GRCh38]
Chr17:45351826..45351827 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.629G>C (p.Cys210Ser) single nucleotide variant Glanzmann thrombasthenia [RCV001225284] Chr17:47286274 [GRCh38]
Chr17:45363640 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.1641C>A (p.Cys547Ter) single nucleotide variant Glanzmann thrombasthenia 2 [RCV004800757]|Glanzmann thrombasthenia [RCV001254668] Chr17:47292519 [GRCh38]
Chr17:45369885 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1697G>A (p.Gly566Asp) single nucleotide variant Glanzmann thrombasthenia [RCV001254669] Chr17:47299314 [GRCh38]
Chr17:45376680 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1080C>A (p.Ser360=) single nucleotide variant not provided [RCV001257186] Chr17:47290229 [GRCh38]
Chr17:45367595 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.917A>C (p.His306Pro) single nucleotide variant Glanzmann thrombasthenia [RCV001803404]|not provided [RCV003560851] Chr17:47287209 [GRCh38]
Chr17:45364575 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.2068_2069del (p.Val690fs) microsatellite Glanzmann thrombasthenia [RCV001803409] Chr17:47302771..47302772 [GRCh38]
Chr17:45380137..45380138 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1300del (p.Gln434fs) deletion Glanzmann thrombasthenia [RCV001803415] Chr17:47292175 [GRCh38]
Chr17:45369541 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.166-14C>A single nucleotide variant Glanzmann thrombasthenia [RCV001803419]|not provided [RCV003574886] Chr17:47283340 [GRCh38]
Chr17:45360706 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.1525del (p.Gln509fs) deletion Glanzmann thrombasthenia [RCV001803429] Chr17:47292403 [GRCh38]
Chr17:45369769 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.856G>A (p.Gly286Arg) single nucleotide variant Glanzmann thrombasthenia [RCV001803432]|not provided [RCV003560852] Chr17:47287148 [GRCh38]
Chr17:45364514 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.361+1G>A single nucleotide variant Glanzmann thrombasthenia [RCV001803433]|not provided [RCV005057624] Chr17:47283550 [GRCh38]
Chr17:45360916 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.153del (p.Trp51fs) deletion Glanzmann thrombasthenia [RCV001803445] Chr17:47274491 [GRCh38]
Chr17:45351857 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1402G>T (p.Glu468Ter) single nucleotide variant Glanzmann thrombasthenia 2 [RCV003339746]|Glanzmann thrombasthenia [RCV001803431] Chr17:47292280 [GRCh38]
Chr17:45369646 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1690G>C (p.Gly564Arg) single nucleotide variant Glanzmann thrombasthenia [RCV001803444] Chr17:47292568 [GRCh38]
Chr17:45369934 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1732G>A (p.Asp578Asn) single nucleotide variant Glanzmann thrombasthenia [RCV001290471]|not provided [RCV004692407]|not specified [RCV004770008] Chr17:47299349 [GRCh38]
Chr17:45376715 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1125+3_1125+6del deletion Glanzmann thrombasthenia [RCV001290499] Chr17:47290275..47290278 [GRCh38]
Chr17:45367641..45367644 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.262C>T (p.Arg88Ter) single nucleotide variant Glanzmann thrombasthenia [RCV001290503]|not provided [RCV003558800] Chr17:47283450 [GRCh38]
Chr17:45360816 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1288C>T (p.Arg430Ter) single nucleotide variant Glanzmann thrombasthenia [RCV001803407] Chr17:47292166 [GRCh38]
Chr17:45369532 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1736G>A (p.Trp579Ter) single nucleotide variant Glanzmann thrombasthenia [RCV001803417] Chr17:47299353 [GRCh38]
Chr17:45376719 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1728del (p.Ser577fs) deletion Glanzmann thrombasthenia [RCV001803424] Chr17:47299345 [GRCh38]
Chr17:45376711 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.613_614+2del deletion Glanzmann thrombasthenia [RCV001803434] Chr17:47284693..47284696 [GRCh38]
Chr17:45362059..45362062 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.861del (p.Arg287fs) deletion Glanzmann thrombasthenia [RCV001803430] Chr17:47287152 [GRCh38]
Chr17:45364518 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.412G>A (p.Val138Met) single nucleotide variant Glanzmann thrombasthenia [RCV001290462] Chr17:47284493 [GRCh38]
Chr17:45361859 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1260G>A (p.Thr420=) single nucleotide variant Glanzmann thrombasthenia [RCV001290478]|not provided [RCV003546696] Chr17:47291088 [GRCh38]
Chr17:45368454 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.100C>T (p.Arg34Ter) single nucleotide variant Glanzmann thrombasthenia [RCV001290487]|Myocardial infarction, susceptibility to [RCV005014336]|not provided [RCV003558799] Chr17:47274439 [GRCh38]
Chr17:45351805 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.614+5G>C single nucleotide variant not provided [RCV001372721] Chr17:47284700 [GRCh38]
Chr17:45362066 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.349C>T (p.Arg117Trp) single nucleotide variant Abnormal bleeding [RCV001270533] Chr17:47283537 [GRCh38]
Chr17:45360903 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1646G>C (p.Cys549Ser) single nucleotide variant Glanzmann thrombasthenia [RCV001290468] Chr17:47292524 [GRCh38]
Chr17:45369890 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.709_710del (p.Ser237fs) microsatellite Glanzmann thrombasthenia [RCV001290472]|Myocardial infarction, susceptibility to [RCV005014334]|Platelet-type bleeding disorder 16 [RCV002245948]|not provided [RCV003546695] Chr17:47286352..47286353 [GRCh38]
Chr17:45363718..45363719 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.166-2A>G single nucleotide variant Glanzmann thrombasthenia [RCV001290480]|not provided [RCV003558798] Chr17:47283352 [GRCh38]
Chr17:45360718 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.941A>C (p.Asp314Ala) single nucleotide variant Glanzmann thrombasthenia [RCV001290453] Chr17:47289682 [GRCh38]
Chr17:45367048 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1871G>A (p.Cys624Tyr) single nucleotide variant Glanzmann thrombasthenia [RCV001290456] Chr17:47299488 [GRCh38]
Chr17:45376854 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.760C>A (p.Gln254Lys) single nucleotide variant Glanzmann thrombasthenia [RCV001290469] Chr17:47286405 [GRCh38]
Chr17:45363771 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.517A>G (p.Ser173Gly) single nucleotide variant not provided [RCV001355452] Chr17:47284598 [GRCh38]
Chr17:45361964 [GRCh37]
Chr17:17q21.32		 uncertain significance
NC_000017.11:g.47253717G>C single nucleotide variant not provided [RCV001514694] Chr17:47253717 [GRCh38]
Chr17:45331083 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.2134+193G>A single nucleotide variant not provided [RCV001539318] Chr17:47303033 [GRCh38]
Chr17:45380399 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.79+196C>A single nucleotide variant not provided [RCV001686502] Chr17:47254136 [GRCh38]
Chr17:45331502 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.80-280C>T single nucleotide variant not provided [RCV001715453] Chr17:47274139 [GRCh38]
Chr17:45351505 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.1914-133_1914-132insTG insertion not provided [RCV001671466] Chr17:47300344..47300345 [GRCh38]
Chr17:45377710..45377711 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.1125+175GAAG[7] microsatellite not provided [RCV001619074] Chr17:47290448..47290449 [GRCh38]
Chr17:45367814..45367815 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.2217del (p.Ile740fs) deletion Glanzmann thrombasthenia [RCV002254799] Chr17:47307553 [GRCh38]
Chr17:45384919 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1406dup (p.Pro469_Asn470insTer) duplication Glanzmann thrombasthenia [RCV002254795]|not provided [RCV003560898] Chr17:47292282..47292283 [GRCh38]
Chr17:45369648..45369649 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.989T>A (p.Ile330Asn) single nucleotide variant Glanzmann thrombasthenia [RCV002254794] Chr17:47289730 [GRCh38]
Chr17:45367096 [GRCh37]
Chr17:17q21.32		 likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.1192del (p.Ala398fs) deletion Glanzmann thrombasthenia [RCV002254816]|not provided [RCV003493927] Chr17:47291020 [GRCh38]
Chr17:45368386 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.2234T>A (p.Ile745Asn) single nucleotide variant not provided [RCV001764988] Chr17:47307570 [GRCh38]
Chr17:45384936 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.225_226del (p.Ala76fs) microsatellite Glanzmann thrombasthenia [RCV001803406]|not provided [RCV003728011] Chr17:47283411..47283412 [GRCh38]
Chr17:45360777..45360778 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.652C>T (p.His218Tyr) single nucleotide variant Glanzmann thrombasthenia 2 [RCV004762183]|Glanzmann thrombasthenia [RCV001803420] Chr17:47286297 [GRCh38]
Chr17:45363663 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2345A>G (p.Asn782Ser) single nucleotide variant not provided [RCV001758009] Chr17:47310182 [GRCh38]
Chr17:45387548 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1495T>C (p.Cys499Arg) single nucleotide variant Glanzmann thrombasthenia [RCV001803403]|not provided [RCV003728010] Chr17:47292373 [GRCh38]
Chr17:45369739 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.756del (p.Met253fs) deletion Glanzmann thrombasthenia [RCV001803414] Chr17:47286401 [GRCh38]
Chr17:45363767 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.892C>T (p.Gln298Ter) single nucleotide variant Glanzmann thrombasthenia [RCV001803425] Chr17:47287184 [GRCh38]
Chr17:45364550 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.842A>C (p.His281Pro) single nucleotide variant Glanzmann thrombasthenia [RCV001803428] Chr17:47287134 [GRCh38]
Chr17:45364500 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1570C>T (p.Arg524Trp) single nucleotide variant Inborn genetic diseases [RCV004040970]|not provided [RCV005095246]|not specified [RCV001817602] Chr17:47292448 [GRCh38]
Chr17:45369814 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2225A>C (p.Lys742Thr) single nucleotide variant not specified [RCV001819214] Chr17:47307561 [GRCh38]
Chr17:45384927 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.555G>T (p.Lys185Asn) single nucleotide variant not specified [RCV001820260] Chr17:47284636 [GRCh38]
Chr17:45362002 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1677G>A (p.Gly559=) single nucleotide variant ITGB3-related disorder [RCV004752062]|not provided [RCV002542642]|not specified [RCV001820698] Chr17:47292555 [GRCh38]
Chr17:45369921 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1731C>T (p.Ser577=) single nucleotide variant not provided [RCV003688948]|not specified [RCV001822259] Chr17:47299348 [GRCh38]
Chr17:45376714 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1650C>T (p.Asp550=) single nucleotide variant ITGB3-related disorder [RCV004752060]|not provided [RCV002542550]|not specified [RCV001819213] Chr17:47292528 [GRCh38]
Chr17:45369894 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.122A>G (p.Gln41Arg) single nucleotide variant not specified [RCV004800088] Chr17:47274461 [GRCh38]
Chr17:45351827 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.55del (p.Ala19fs) deletion Glanzmann thrombasthenia [RCV004577558]|not provided [RCV001948884] Chr17:47253912 [GRCh38]
Chr17:45331278 [GRCh37]
Chr17:17q21.32		 pathogenic|uncertain significance
NM_000212.3(ITGB3):c.2302-9C>A single nucleotide variant not provided [RCV001910539] Chr17:47310130 [GRCh38]
Chr17:45387496 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.473A>T (p.Gln158Leu) single nucleotide variant Glanzmann thrombasthenia [RCV003234993] Chr17:47284554 [GRCh38]
Chr17:45361920 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.646T>C (p.Tyr216His) single nucleotide variant Glanzmann thrombasthenia [RCV003234995] Chr17:47286291 [GRCh38]
Chr17:45363657 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1130T>C (p.Ile377Thr) single nucleotide variant not provided [RCV001906641] Chr17:47290958 [GRCh38]
Chr17:45368324 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.444C>G (p.Tyr148Ter) single nucleotide variant Glanzmann thrombasthenia 1 [RCV002245360]|Glanzmann thrombasthenia [RCV004577562] Chr17:47284525 [GRCh38]
Chr17:45361891 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.992A>G (p.Asn331Ser) single nucleotide variant Glanzmann thrombasthenia 2 [RCV002280912]|Platelet-type bleeding disorder 16 [RCV002245358] Chr17:47289733 [GRCh38]
Chr17:45367099 [GRCh37]
Chr17:17q21.32		 pathogenic|uncertain significance
NM_000212.3(ITGB3):c.674del (p.Gln225fs) deletion Glanzmann thrombasthenia [RCV002254802] Chr17:47286319 [GRCh38]
Chr17:45363685 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.2315T>C (p.Leu772Pro) single nucleotide variant Glanzmann thrombasthenia [RCV002254809]|not provided [RCV005095871] Chr17:47310152 [GRCh38]
Chr17:45387518 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1641C>G (p.Cys547Trp) single nucleotide variant Glanzmann thrombasthenia [RCV002254811] Chr17:47292519 [GRCh38]
Chr17:45369885 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1427A>T (p.Asn476Ile) single nucleotide variant not provided [RCV003115268] Chr17:47292305 [GRCh38]
Chr17:45369671 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.92_93del (p.Cys31fs) deletion not provided [RCV003117141] Chr17:47274430..47274431 [GRCh38]
Chr17:45351796..45351797 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.2216_2217insAGCA (p.Ile740fs) insertion Glanzmann thrombasthenia 1 [RCV002245362] Chr17:47307552..47307553 [GRCh38]
Chr17:45384918..45384919 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.59T>C (p.Leu20Pro) single nucleotide variant Glanzmann thrombasthenia [RCV002254807] Chr17:47253920 [GRCh38]
Chr17:45331286 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.422A>G (p.Tyr141Cys) single nucleotide variant Glanzmann thrombasthenia 2 [RCV003987989]|Glanzmann thrombasthenia [RCV002254817]|not provided [RCV003560900] Chr17:47284503 [GRCh38]
Chr17:45361869 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.1388G>C (p.Cys463Ser) single nucleotide variant Glanzmann thrombasthenia [RCV002254822] Chr17:47292266 [GRCh38]
Chr17:45369632 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1703G>A (p.Cys568Tyr) single nucleotide variant Glanzmann thrombasthenia 2 [RCV002250849] Chr17:47299320 [GRCh38]
Chr17:45376686 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1986dup (p.Asp663Ter) duplication Glanzmann thrombasthenia 1 [RCV002245424]|Glanzmann thrombasthenia [RCV002511140] Chr17:47300549..47300550 [GRCh38]
Chr17:45377915..45377916 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.1757G>T (p.Cys586Phe) single nucleotide variant Glanzmann thrombasthenia [RCV002254805]|not specified [RCV004700704] Chr17:47299374 [GRCh38]
Chr17:45376740 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2031_2041del (p.Asp677fs) deletion Glanzmann thrombasthenia 2 [RCV002286590]|Glanzmann thrombasthenia [RCV002254814]|not provided [RCV003560899] Chr17:47302737..47302747 [GRCh38]
Chr17:45380103..45380113 [GRCh37]
Chr17:17q21.32		 pathogenic
GRCh37/hg19 17q21.32(chr17:44949883-46507482) copy number gain PNPO-related disorder [RCV003236737] Chr17:44949883..46507482 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.173del (p.Pro58fs) deletion Bleeding disorder, platelet-type, 24 [RCV002261472] Chr17:47283360 [GRCh38]
Chr17:45360726 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.541G>A (p.Ala181Thr) single nucleotide variant Bleeding disorder, platelet-type, 24 [RCV002281032] Chr17:47284622 [GRCh38]
Chr17:45361988 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1703G>T (p.Cys568Phe) single nucleotide variant Bleeding disorder, platelet-type, 24 [RCV002281035] Chr17:47299320 [GRCh38]
Chr17:45376686 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.79G>A (p.Gly27Arg) single nucleotide variant Glanzmann thrombasthenia 2 [RCV002281034]|not provided [RCV005096021] Chr17:47253940 [GRCh38]
Chr17:45331306 [GRCh37]
Chr17:17q21.32		 likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.1036-2A>G single nucleotide variant Bleeding disorder, platelet-type, 24 [RCV002261474] Chr17:47290183 [GRCh38]
Chr17:45367549 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1309G>T (p.Glu437Ter) single nucleotide variant Glanzmann thrombasthenia 1 [RCV002264879]|Glanzmann thrombasthenia [RCV004577564] Chr17:47292187 [GRCh38]
Chr17:45369553 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.1723T>C (p.Cys575Arg) single nucleotide variant Glanzmann thrombasthenia 2 [RCV003236384]|not provided [RCV005102484] Chr17:47299340 [GRCh38]
Chr17:45376706 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.2236A>C (p.Thr746Pro) single nucleotide variant Bleeding disorder, platelet-type, 24 [RCV002267595] Chr17:47307572 [GRCh38]
Chr17:45384938 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2243A>C (p.His748Pro) single nucleotide variant Bleeding disorder, platelet-type, 24 [RCV002267596] Chr17:47307579 [GRCh38]
Chr17:45384945 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1975C>T (p.Arg659Cys) single nucleotide variant Glanzmann thrombasthenia 2 [RCV002281031] Chr17:47300539 [GRCh38]
Chr17:45377905 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.59T>G (p.Leu20Arg) single nucleotide variant Glanzmann thrombasthenia 2 [RCV002281033]|Glanzmann thrombasthenia [RCV002511151] Chr17:47253920 [GRCh38]
Chr17:45331286 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2301+1G>C single nucleotide variant Glanzmann thrombasthenia [RCV003234997] Chr17:47307638 [GRCh38]
Chr17:45385004 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.2209G>A (p.Ala737Thr) single nucleotide variant Bleeding disorder, platelet-type, 24 [RCV002261473]|not provided [RCV003698891] Chr17:47307545 [GRCh38]
Chr17:45384911 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2311C>T (p.Pro771Ser) single nucleotide variant Glanzmann thrombasthenia 1 [RCV002264890] Chr17:47310148 [GRCh38]
Chr17:45387514 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2278C>T (p.Arg760Cys) single nucleotide variant Bleeding disorder, platelet-type, 24 [RCV002267597]|not provided [RCV003120865] Chr17:47307614 [GRCh38]
Chr17:45384980 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.615-1G>A single nucleotide variant Glanzmann thrombasthenia 2 [RCV003153134] Chr17:47286259 [GRCh38]
Chr17:45363625 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1843A>G (p.Ile615Val) single nucleotide variant Bleeding disorder, platelet-type, 24 [RCV002466952]|Glanzmann thrombasthenia [RCV004577566] Chr17:47299460 [GRCh38]
Chr17:45376826 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2027A>C (p.Lys676Thr) single nucleotide variant Glanzmann thrombasthenia [RCV003234994] Chr17:47302733 [GRCh38]
Chr17:45380099 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.703A>G (p.Lys235Glu) single nucleotide variant not provided [RCV003131283] Chr17:47286348 [GRCh38]
Chr17:45363714 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1959C>A (p.Asp653Glu) single nucleotide variant not provided [RCV002305356] Chr17:47300523 [GRCh38]
Chr17:45377889 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1660T>C (p.Cys554Arg) single nucleotide variant not provided [RCV002299763] Chr17:47292538 [GRCh38]
Chr17:45369904 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1690+8G>C single nucleotide variant not provided [RCV003016017] Chr17:47292576 [GRCh38]
Chr17:45369942 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.863T>C (p.Leu288Pro) single nucleotide variant Glanzmann thrombasthenia [RCV002511510] Chr17:47287155 [GRCh38]
Chr17:45364521 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.847_848del (p.Ala283fs) deletion Glanzmann thrombasthenia [RCV002511516] Chr17:47287139..47287140 [GRCh38]
Chr17:45364505..45364506 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1525C>T (p.Gln509Ter) single nucleotide variant Glanzmann thrombasthenia [RCV002511518] Chr17:47292403 [GRCh38]
Chr17:45369769 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.92G>A (p.Cys31Tyr) single nucleotide variant Glanzmann thrombasthenia [RCV002511540] Chr17:47274431 [GRCh38]
Chr17:45351797 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1639T>G (p.Cys547Gly) single nucleotide variant Glanzmann thrombasthenia [RCV002511546]|not provided [RCV003493963] Chr17:47292517 [GRCh38]
Chr17:45369883 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.161_165+1delinsCTGATT indel Glanzmann thrombasthenia [RCV002511555] Chr17:47274500..47274505 [GRCh38]
Chr17:45351866..45351871 [GRCh37]
Chr17:17q21.32		 pathogenic
NC_000017.11:g.47296304_47307500del deletion Glanzmann thrombasthenia [RCV002511567] Chr17:47296304..47307500 [GRCh38]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.85A>G (p.Asn29Asp) single nucleotide variant Inborn genetic diseases [RCV002864179]|Myocardial infarction, susceptibility to [RCV005021708] Chr17:47274424 [GRCh38]
Chr17:45351790 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1779C>T (p.Cys593=) single nucleotide variant not provided [RCV002908013] Chr17:47299396 [GRCh38]
Chr17:45376762 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.598G>A (p.Glu200Lys) single nucleotide variant Glanzmann thrombasthenia [RCV003464645]|Inborn genetic diseases [RCV002944113]|not provided [RCV002972051] Chr17:47284679 [GRCh38]
Chr17:45362045 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.1763C>T (p.Thr588Met) single nucleotide variant ITGB3-related disorder [RCV004750804]|not provided [RCV002996311]|not specified [RCV003994482] Chr17:47299380 [GRCh38]
Chr17:45376746 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2232C>T (p.Leu744=) single nucleotide variant not provided [RCV003073600] Chr17:47307568 [GRCh38]
Chr17:45384934 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.567del (p.Tyr190fs) deletion Glanzmann thrombasthenia [RCV002511509]|not provided [RCV003561060] Chr17:47284648 [GRCh38]
Chr17:45362014 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.1595G>T (p.Cys532Phe) single nucleotide variant Glanzmann thrombasthenia [RCV002511533] Chr17:47292473 [GRCh38]
Chr17:45369839 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.330_336del (p.Ser110fs) deletion Glanzmann thrombasthenia [RCV002511522] Chr17:47283515..47283521 [GRCh38]
Chr17:45360881..45360887 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.2249G>A (p.Arg750Gln) single nucleotide variant Glanzmann thrombasthenia [RCV004577570]|not provided [RCV002991823] Chr17:47307585 [GRCh38]
Chr17:45384951 [GRCh37]
Chr17:17q21.32		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000212.3(ITGB3):c.1955A>T (p.His652Leu) single nucleotide variant Glanzmann thrombasthenia [RCV002511523] Chr17:47300519 [GRCh38]
Chr17:45377885 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.121C>T (p.Gln41Ter) single nucleotide variant Glanzmann thrombasthenia [RCV002511528] Chr17:47274460 [GRCh38]
Chr17:45351826 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1813G>A (p.Gly605Ser) single nucleotide variant Glanzmann thrombasthenia [RCV002511543]|Myocardial infarction, susceptibility to [RCV005019223]|not provided [RCV005096992] Chr17:47299430 [GRCh38]
Chr17:45376796 [GRCh37]
Chr17:17q21.32		 likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.725G>A (p.Arg242Gln) single nucleotide variant Glanzmann thrombasthenia 2 [RCV004690302]|Glanzmann thrombasthenia [RCV002511544]|Myocardial infarction, susceptibility to [RCV005019224]|not provided [RCV003561061] Chr17:47286370 [GRCh38]
Chr17:45363736 [GRCh37]
Chr17:17q21.32		 pathogenic|likely pathogenic
NM_000212.3(ITGB3):c.1303G>T (p.Glu435Ter) single nucleotide variant Glanzmann thrombasthenia [RCV002511548] Chr17:47292181 [GRCh38]
Chr17:45369547 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.445T>C (p.Ser149Pro) single nucleotide variant Glanzmann thrombasthenia [RCV002511558] Chr17:47284526 [GRCh38]
Chr17:45361892 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1185del (p.Phe396fs) deletion Glanzmann thrombasthenia [RCV002511560] Chr17:47291012 [GRCh38]
Chr17:45368378 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.888C>T (p.Asp296=) single nucleotide variant not provided [RCV002996099] Chr17:47287180 [GRCh38]
Chr17:45364546 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.23G>A (p.Arg8Gln) single nucleotide variant Inborn genetic diseases [RCV002817938] Chr17:47253884 [GRCh38]
Chr17:45331250 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.401del (p.Glu134fs) deletion Glanzmann thrombasthenia [RCV002511517] Chr17:47284482 [GRCh38]
Chr17:45361848 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1451G>T (p.Gly484Val) single nucleotide variant Glanzmann thrombasthenia [RCV002511526] Chr17:47292329 [GRCh38]
Chr17:45369695 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.118C>T (p.Gln40Ter) single nucleotide variant Glanzmann thrombasthenia [RCV002511542] Chr17:47274457 [GRCh38]
Chr17:45351823 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.18G>A (p.Arg6=) single nucleotide variant not provided [RCV002975174] Chr17:47253879 [GRCh38]
Chr17:45331245 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1990G>A (p.Glu664Lys) single nucleotide variant Inborn genetic diseases [RCV002661418]|not provided [RCV005099503] Chr17:47300554 [GRCh38]
Chr17:45377920 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1004C>T (p.Ala335Val) single nucleotide variant not provided [RCV002800501] Chr17:47289745 [GRCh38]
Chr17:45367111 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.527G>A (p.Arg176Gln) single nucleotide variant ITGB3-related disorder [RCV003900917]|Inborn genetic diseases [RCV002692841] Chr17:47284608 [GRCh38]
Chr17:45361974 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.101G>A (p.Arg34Gln) single nucleotide variant not provided [RCV002885669] Chr17:47274440 [GRCh38]
Chr17:45351806 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1271G>A (p.Ser424Asn) single nucleotide variant Inborn genetic diseases [RCV002912237] Chr17:47292149 [GRCh38]
Chr17:45369515 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1492G>A (p.Glu498Lys) single nucleotide variant Inborn genetic diseases [RCV002798007] Chr17:47292370 [GRCh38]
Chr17:45369736 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2279G>A (p.Arg760His) single nucleotide variant Bleeding disorder, platelet-type, 24 [RCV004560086]|Inborn genetic diseases [RCV002784201]|not provided [RCV005099210] Chr17:47307615 [GRCh38]
Chr17:45384981 [GRCh37]
Chr17:17q21.32		 likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.1366A>T (p.Thr456Ser) single nucleotide variant Inborn genetic diseases [RCV002912047] Chr17:47292244 [GRCh38]
Chr17:45369610 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1914-7C>T single nucleotide variant Glanzmann thrombasthenia [RCV004732496]|not provided [RCV002948648]|not specified [RCV003994475] Chr17:47300471 [GRCh38]
Chr17:45377837 [GRCh37]
Chr17:17q21.32		 benign|uncertain significance
NM_000212.3(ITGB3):c.2340C>A (p.Phe780Leu) single nucleotide variant not provided [RCV002622174] Chr17:47310177 [GRCh38]
Chr17:45387543 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.678G>A (p.Val226=) single nucleotide variant not provided [RCV002913477] Chr17:47286323 [GRCh38]
Chr17:45363689 [GRCh37]
Chr17:17q21.32		 likely benign|uncertain significance
NM_000212.3(ITGB3):c.917A>G (p.His306Arg) single nucleotide variant not provided [RCV002644209] Chr17:47287209 [GRCh38]
Chr17:45364575 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.744C>T (p.Gly248=) single nucleotide variant not provided [RCV003085835] Chr17:47286389 [GRCh38]
Chr17:45363755 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.611A>G (p.Tyr204Cys) single nucleotide variant not provided [RCV002982189] Chr17:47284692 [GRCh38]
Chr17:45362058 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1511A>G (p.Tyr504Cys) single nucleotide variant not provided [RCV002982816] Chr17:47292389 [GRCh38]
Chr17:45369755 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.884A>G (p.Asn295Ser) single nucleotide variant not provided [RCV003083133] Chr17:47287176 [GRCh38]
Chr17:45364542 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2360G>A (p.Gly787Asp) single nucleotide variant not provided [RCV002508371] Chr17:47310197 [GRCh38]
Chr17:45387563 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2335A>G (p.Thr779Ala) single nucleotide variant not provided [RCV002954442] Chr17:47310172 [GRCh38]
Chr17:45387538 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1764G>A (p.Thr588=) single nucleotide variant not provided [RCV002623421] Chr17:47299381 [GRCh38]
Chr17:45376747 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.350G>A (p.Arg117Gln) single nucleotide variant not provided [RCV002595291] Chr17:47283538 [GRCh38]
Chr17:45360904 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1133G>A (p.Arg378His) single nucleotide variant not provided [RCV002954183] Chr17:47290961 [GRCh38]
Chr17:45368327 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.773G>C (p.Cys258Ser) single nucleotide variant not provided [RCV002508576] Chr17:47286418 [GRCh38]
Chr17:45363784 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.830A>T (p.Asp277Val) single nucleotide variant ITGB3-related disorder [RCV003395611]|not provided [RCV002596211] Chr17:47287122 [GRCh38]
Chr17:45364488 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.57_58delinsTT (p.Ala19_Leu20=) indel not provided [RCV002914537] Chr17:47253918..47253919 [GRCh38]
Chr17:45331284..45331285 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.790T>G (p.Trp264Gly) single nucleotide variant not provided [RCV002645978] Chr17:47287082 [GRCh38]
Chr17:45364448 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1985G>C (p.Arg662Pro) single nucleotide variant not provided [RCV002598585] Chr17:47300549 [GRCh38]
Chr17:45377915 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2075G>C (p.Arg692Thr) single nucleotide variant not provided [RCV002602891] Chr17:47302781 [GRCh38]
Chr17:45380147 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1557C>A (p.Pro519=) single nucleotide variant not provided [RCV002648151] Chr17:47292435 [GRCh38]
Chr17:45369801 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1035+19T>A single nucleotide variant not provided [RCV002899882] Chr17:47289795 [GRCh38]
Chr17:45367161 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1357G>A (p.Val453Ile) single nucleotide variant not provided [RCV002806954] Chr17:47292235 [GRCh38]
Chr17:45369601 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.614+19C>T single nucleotide variant not provided [RCV003088210] Chr17:47284714 [GRCh38]
Chr17:45362080 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1072dup (p.Val358fs) duplication not provided [RCV002716135] Chr17:47290217..47290218 [GRCh38]
Chr17:45367583..45367584 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1285G>A (p.Val429Met) single nucleotide variant Inborn genetic diseases [RCV003167511]|not provided [RCV002630946] Chr17:47292163 [GRCh38]
Chr17:45369529 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1850C>T (p.Pro617Leu) single nucleotide variant not provided [RCV003090520] Chr17:47299467 [GRCh38]
Chr17:45376833 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1180C>G (p.Leu394Val) single nucleotide variant Inborn genetic diseases [RCV003011208]|not provided [RCV003011207] Chr17:47291008 [GRCh38]
Chr17:45368374 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2002G>C (p.Val668Leu) single nucleotide variant Inborn genetic diseases [RCV002673055] Chr17:47300566 [GRCh38]
Chr17:45377932 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.684C>T (p.Arg228=) single nucleotide variant not provided [RCV003064894] Chr17:47286329 [GRCh38]
Chr17:45363695 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1691-14C>G single nucleotide variant not provided [RCV002856777] Chr17:47299294 [GRCh38]
Chr17:45376660 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2103A>G (p.Gly701=) single nucleotide variant not provided [RCV002632518] Chr17:47302809 [GRCh38]
Chr17:45380175 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2019C>T (p.Asp673=) single nucleotide variant not provided [RCV002627783] Chr17:47302725 [GRCh38]
Chr17:45380091 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1901G>A (p.Cys634Tyr) single nucleotide variant not provided [RCV002581713] Chr17:47299518 [GRCh38]
Chr17:45376884 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1531G>A (p.Glu511Lys) single nucleotide variant not provided [RCV003061581] Chr17:47292409 [GRCh38]
Chr17:45369775 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1812C>T (p.Arg604=) single nucleotide variant not provided [RCV002633692]|not specified [RCV005059174] Chr17:47299429 [GRCh38]
Chr17:45376795 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2070C>T (p.Val690=) single nucleotide variant not provided [RCV002725623] Chr17:47302776 [GRCh38]
Chr17:45380142 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.556C>T (p.Pro186Ser) single nucleotide variant not provided [RCV002604026] Chr17:47284637 [GRCh38]
Chr17:45362003 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.288C>T (p.Ser96=) single nucleotide variant not provided [RCV003067555] Chr17:47283476 [GRCh38]
Chr17:45360842 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1348A>G (p.Ser450Gly) single nucleotide variant Inborn genetic diseases [RCV002723686] Chr17:47292226 [GRCh38]
Chr17:45369592 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1691-19C>T single nucleotide variant not provided [RCV003072941] Chr17:47299289 [GRCh38]
Chr17:45376655 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1576G>C (p.Glu526Gln) single nucleotide variant not provided [RCV002588418] Chr17:47292454 [GRCh38]
Chr17:45369820 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.682C>T (p.Arg228Cys) single nucleotide variant ITGB3-related disorder [RCV003410121]|not provided [RCV002607321] Chr17:47286327 [GRCh38]
Chr17:45363693 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.391C>T (p.Arg131Trp) single nucleotide variant not provided [RCV002589252] Chr17:47284472 [GRCh38]
Chr17:45361838 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.787G>A (p.Gly263Ser) single nucleotide variant not provided [RCV002612307] Chr17:47287079 [GRCh38]
Chr17:45364445 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.473A>G (p.Gln158Arg) single nucleotide variant Glanzmann thrombasthenia [RCV003235771]|not provided [RCV002603158] Chr17:47284554 [GRCh38]
Chr17:45361920 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1658_1660del (p.Ser553del) deletion Glanzmann thrombasthenia [RCV003222581]|not provided [RCV005061119] Chr17:47292534..47292536 [GRCh38]
Chr17:45369900..45369902 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.602del (p.Asn201fs) deletion Glanzmann thrombasthenia [RCV003222582] Chr17:47284680 [GRCh38]
Chr17:45362046 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1476G>A (p.Trp492Ter) single nucleotide variant Glanzmann thrombasthenia [RCV003222559] Chr17:47292354 [GRCh38]
Chr17:45369720 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.385C>A (p.Gln129Lys) single nucleotide variant Glanzmann thrombasthenia [RCV003222572]|not provided [RCV003561241] Chr17:47284466 [GRCh38]
Chr17:45361832 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.538G>A (p.Gly180Arg) single nucleotide variant Glanzmann thrombasthenia [RCV003222579] Chr17:47284619 [GRCh38]
Chr17:45361985 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1216A>G (p.Ile406Val) single nucleotide variant Inborn genetic diseases [RCV003217113] Chr17:47291044 [GRCh38]
Chr17:45368410 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1818G>T (p.Lys606Asn) single nucleotide variant Glanzmann thrombasthenia [RCV003222560] Chr17:47299435 [GRCh38]
Chr17:45376801 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1616_1617del (p.Phe539fs) deletion Glanzmann thrombasthenia [RCV003222562]|not provided [RCV003561239] Chr17:47292493..47292494 [GRCh38]
Chr17:45369859..45369860 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.487A>C (p.Lys163Gln) single nucleotide variant Glanzmann thrombasthenia [RCV003222570] Chr17:47284568 [GRCh38]
Chr17:45361934 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.155G>T (p.Cys52Phe) single nucleotide variant Glanzmann thrombasthenia [RCV003222580] Chr17:47274494 [GRCh38]
Chr17:45351860 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1771G>C (p.Asp591His) single nucleotide variant Inborn genetic diseases [RCV003204793] Chr17:47299388 [GRCh38]
Chr17:45376754 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.655G>A (p.Val219Met) single nucleotide variant Glanzmann thrombasthenia [RCV003222557]|not provided [RCV003561238] Chr17:47286300 [GRCh38]
Chr17:45363666 [GRCh37]
Chr17:17q21.32		 likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.2T>C (p.Met1Thr) single nucleotide variant Glanzmann thrombasthenia [RCV003222578] Chr17:47253863 [GRCh38]
Chr17:45331229 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.35C>A (p.Ala12Glu) single nucleotide variant Inborn genetic diseases [RCV003175960] Chr17:47253896 [GRCh38]
Chr17:45331262 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.812dup (p.Leu271fs) duplication Glanzmann thrombasthenia [RCV003222571] Chr17:47287102..47287103 [GRCh38]
Chr17:45364468..45364469 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.792G>A (p.Trp264Ter) single nucleotide variant Glanzmann thrombasthenia [RCV003222565]|not provided [RCV003561240] Chr17:47287084 [GRCh38]
Chr17:45364450 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1990G>T (p.Glu664Ter) single nucleotide variant Glanzmann thrombasthenia [RCV003222573] Chr17:47300554 [GRCh38]
Chr17:45377920 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.887_901del (p.Asp296_His300del) deletion Glanzmann thrombasthenia [RCV003222577] Chr17:47287176..47287190 [GRCh38]
Chr17:45364542..45364556 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.17G>A (p.Arg6Gln) single nucleotide variant Inborn genetic diseases [RCV003207851]|not provided [RCV003720792] Chr17:47253878 [GRCh38]
Chr17:45331244 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1081A>G (p.Met361Val) single nucleotide variant not provided [RCV003329996] Chr17:47290230 [GRCh38]
Chr17:45367596 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1794_1817delinsACAT (p.Leu599fs) indel Glanzmann thrombasthenia 2 [RCV003337900] Chr17:47299411..47299434 [GRCh38]
Chr17:45376777..45376800 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.961A>C (p.Met321Leu) single nucleotide variant Glanzmann thrombasthenia [RCV003330342] Chr17:47289702 [GRCh38]
Chr17:45367068 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2187_2203delinsTCATTGGCTCA (p.Ile730_Leu735delinsHisTrpLeuIle) indel Glanzmann thrombasthenia [RCV003330344] Chr17:47307523..47307539 [GRCh38]
Chr17:45384889..45384905 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.2301+5G>A single nucleotide variant Glanzmann thrombasthenia 2 [RCV004798980]|not provided [RCV003332912] Chr17:47307642 [GRCh38]
Chr17:45385008 [GRCh37]
Chr17:17q21.32		 likely pathogenic|uncertain significance
NM_000212.3(ITGB3):c.2056G>A (p.Glu686Lys) single nucleotide variant Inborn genetic diseases [RCV003353831] Chr17:47302762 [GRCh38]
Chr17:45380128 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.7G>C (p.Ala3Pro) single nucleotide variant not provided [RCV003873214] Chr17:47253868 [GRCh38]
Chr17:45331234 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.79+17C>T single nucleotide variant not provided [RCV003569590] Chr17:47253957 [GRCh38]
Chr17:45331323 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1126-13C>T single nucleotide variant not provided [RCV003570021] Chr17:47290941 [GRCh38]
Chr17:45368307 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.361+20C>G single nucleotide variant not provided [RCV003571299] Chr17:47283569 [GRCh38]
Chr17:45360935 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1035+14C>T single nucleotide variant not provided [RCV003570092] Chr17:47289790 [GRCh38]
Chr17:45367156 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.39T>C (p.Thr13=) single nucleotide variant not provided [RCV003873851] Chr17:47253900 [GRCh38]
Chr17:45331266 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.863T>G (p.Leu288Arg) single nucleotide variant not provided [RCV003570654] Chr17:47287155 [GRCh38]
Chr17:45364521 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.449T>C (p.Met150Thr) single nucleotide variant not provided [RCV003874913] Chr17:47284530 [GRCh38]
Chr17:45361896 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1989C>T (p.Asp663=) single nucleotide variant not provided [RCV003691181] Chr17:47300553 [GRCh38]
Chr17:45377919 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1935G>C (p.Lys645Asn) single nucleotide variant not provided [RCV003419765] Chr17:47300499 [GRCh38]
Chr17:45377865 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1053_1058del (p.Ile351_Gly353delinsMet) deletion Glanzmann thrombasthenia [RCV003459891]   pathogenic
NM_000212.3(ITGB3):c.824C>T (p.Thr275Ile) single nucleotide variant ITGB3-related disorder [RCV003410649] Chr17:47287116 [GRCh38]
Chr17:45364482 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1435G>A (p.Gly479Arg) single nucleotide variant not specified [RCV003404747] Chr17:47292313 [GRCh38]
Chr17:45369679 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2193_2195dup (p.Leu732_Ile733insLeu) duplication ITGB3-related disorder [RCV003402498] Chr17:47307526..47307527 [GRCh38]
Chr17:45384892..45384893 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2245G>A (p.Asp749Asn) single nucleotide variant ITGB3-related disorder [RCV003399847]|not provided [RCV003720887] Chr17:47307581 [GRCh38]
Chr17:45384947 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.614+14C>G single nucleotide variant not provided [RCV003740185] Chr17:47284709 [GRCh38]
Chr17:45362075 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1695T>C (p.His565=) single nucleotide variant not provided [RCV003881289] Chr17:47299312 [GRCh38]
Chr17:45376678 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2244C>T (p.His748=) single nucleotide variant not provided [RCV003738914] Chr17:47307580 [GRCh38]
Chr17:45384946 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1356C>T (p.Ile452=) single nucleotide variant not provided [RCV003545846] Chr17:47292234 [GRCh38]
Chr17:45369600 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.861G>A (p.Arg287=) single nucleotide variant not provided [RCV003545937] Chr17:47287153 [GRCh38]
Chr17:45364519 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.939+7T>G single nucleotide variant not provided [RCV003696151] Chr17:47287238 [GRCh38]
Chr17:45364604 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.351G>C (p.Arg117=) single nucleotide variant not provided [RCV003831807] Chr17:47283539 [GRCh38]
Chr17:45360905 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1674G>A (p.Lys558=) single nucleotide variant not provided [RCV003690838] Chr17:47292552 [GRCh38]
Chr17:45369918 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.723C>T (p.Asn241=) single nucleotide variant not provided [RCV003830931] Chr17:47286368 [GRCh38]
Chr17:45363734 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1690+11C>G single nucleotide variant not provided [RCV003695718] Chr17:47292579 [GRCh38]
Chr17:45369945 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.804A>T (p.Ala268=) single nucleotide variant not provided [RCV003693734] Chr17:47287096 [GRCh38]
Chr17:45364462 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2135-12T>G single nucleotide variant not provided [RCV003573073] Chr17:47307459 [GRCh38]
Chr17:45384825 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1908T>C (p.Phe636=) single nucleotide variant not provided [RCV003881995] Chr17:47299525 [GRCh38]
Chr17:45376891 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2134+1G>T single nucleotide variant not provided [RCV003696661] Chr17:47302841 [GRCh38]
Chr17:45380207 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1690+8G>A single nucleotide variant not provided [RCV003579569] Chr17:47292576 [GRCh38]
Chr17:45369942 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1691-20C>T single nucleotide variant not provided [RCV003827840] Chr17:47299288 [GRCh38]
Chr17:45376654 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.166-12C>T single nucleotide variant not provided [RCV003879004] Chr17:47283342 [GRCh38]
Chr17:45360708 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.80-14T>C single nucleotide variant not provided [RCV003686856] Chr17:47274405 [GRCh38]
Chr17:45351771 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.63G>C (p.Ala21=) single nucleotide variant not provided [RCV003545596] Chr17:47253924 [GRCh38]
Chr17:45331290 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2014+11C>T single nucleotide variant not provided [RCV003689641] Chr17:47300589 [GRCh38]
Chr17:45377955 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.605C>T (p.Pro202Leu) single nucleotide variant not provided [RCV003739074] Chr17:47284686 [GRCh38]
Chr17:45362052 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.778-5A>G single nucleotide variant not provided [RCV003879034] Chr17:47287065 [GRCh38]
Chr17:45364431 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2014+12A>G single nucleotide variant not provided [RCV003547610] Chr17:47300590 [GRCh38]
Chr17:45377956 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1914-6C>T single nucleotide variant not provided [RCV003687705] Chr17:47300472 [GRCh38]
Chr17:45377838 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.64_73dup (p.Val25fs) duplication not provided [RCV003877089] Chr17:47253919..47253920 [GRCh38]
Chr17:45331285..45331286 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.2040T>C (p.Asn680=) single nucleotide variant not provided [RCV003877086] Chr17:47302746 [GRCh38]
Chr17:45380112 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1050C>T (p.Leu350=) single nucleotide variant not provided [RCV003545852] Chr17:47290199 [GRCh38]
Chr17:45367565 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.778-8_778-5del deletion not provided [RCV003689267] Chr17:47287062..47287065 [GRCh38]
Chr17:45364428..45364431 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.904G>C (p.Gly302Arg) single nucleotide variant not provided [RCV003687854] Chr17:47287196 [GRCh38]
Chr17:45364562 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1913+17G>T single nucleotide variant not provided [RCV003689321] Chr17:47299547 [GRCh38]
Chr17:45376913 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1722G>T (p.Leu574=) single nucleotide variant not provided [RCV003687929] Chr17:47299339 [GRCh38]
Chr17:45376705 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.165+19A>G single nucleotide variant not provided [RCV003578088] Chr17:47274523 [GRCh38]
Chr17:45351889 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1599C>T (p.Val533=) single nucleotide variant not provided [RCV003544625] Chr17:47292477 [GRCh38]
Chr17:45369843 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.694G>T (p.Glu232Ter) single nucleotide variant not provided [RCV003547405] Chr17:47286339 [GRCh38]
Chr17:45363705 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1602C>T (p.Cys534=) single nucleotide variant not provided [RCV003694652] Chr17:47292480 [GRCh38]
Chr17:45369846 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.102A>T (p.Arg34=) single nucleotide variant not provided [RCV003573244] Chr17:47274441 [GRCh38]
Chr17:45351807 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.614+9C>A single nucleotide variant not provided [RCV003577522] Chr17:47284704 [GRCh38]
Chr17:45362070 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1521C>G (p.Ser507=) single nucleotide variant not provided [RCV003830910] Chr17:47292399 [GRCh38]
Chr17:45369765 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1881C>T (p.Cys627=) single nucleotide variant not provided [RCV003830911] Chr17:47299498 [GRCh38]
Chr17:45376864 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2301+11G>A single nucleotide variant not provided [RCV003696053] Chr17:47307648 [GRCh38]
Chr17:45385014 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.349C>A (p.Arg117=) single nucleotide variant not provided [RCV003686616] Chr17:47283537 [GRCh38]
Chr17:45360903 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.36G>T (p.Ala12=) single nucleotide variant not provided [RCV003573444] Chr17:47253897 [GRCh38]
Chr17:45331263 [GRCh37]
Chr17:17q21.32		 likely benign
NC_000017.11:g.47307469AG[1] microsatellite not provided [RCV003880010] Chr17:47307469..47307470 [GRCh38]
Chr17:45384835..45384836 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.171G>A (p.Leu57=) single nucleotide variant not provided [RCV003875978] Chr17:47283359 [GRCh38]
Chr17:45360725 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2014+19dup duplication not provided [RCV003544705] Chr17:47300596..47300597 [GRCh38]
Chr17:45377962..45377963 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.17G>T (p.Arg6Leu) single nucleotide variant not provided [RCV003739768] Chr17:47253878 [GRCh38]
Chr17:45331244 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.939+19C>T single nucleotide variant not provided [RCV003578724] Chr17:47287250 [GRCh38]
Chr17:45364616 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2112C>T (p.Ile704=) single nucleotide variant not provided [RCV003691522] Chr17:47302818 [GRCh38]
Chr17:45380184 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.141C>T (p.Pro47=) single nucleotide variant not provided [RCV003573673] Chr17:47274480 [GRCh38]
Chr17:45351846 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2322A>G (p.Lys774=) single nucleotide variant not provided [RCV003545385] Chr17:47310159 [GRCh38]
Chr17:45387525 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.525G>T (p.Leu175=) single nucleotide variant not provided [RCV003739790] Chr17:47284606 [GRCh38]
Chr17:45361972 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1913+18A>G single nucleotide variant not provided [RCV003739582] Chr17:47299548 [GRCh38]
Chr17:45376914 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.174T>C (p.Pro58=) single nucleotide variant not provided [RCV003544957] Chr17:47283362 [GRCh38]
Chr17:45360728 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.267A>T (p.Val89=) single nucleotide variant not provided [RCV003578079] Chr17:47283455 [GRCh38]
Chr17:45360821 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1701G>A (p.Gln567=) single nucleotide variant not provided [RCV003739604] Chr17:47299318 [GRCh38]
Chr17:45376684 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2337C>A (p.Thr779=) single nucleotide variant not provided [RCV003545075] Chr17:47310174 [GRCh38]
Chr17:45387540 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1209T>C (p.Asn403=) single nucleotide variant not provided [RCV003578533] Chr17:47291037 [GRCh38]
Chr17:45368403 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.663G>A (p.Thr221=) single nucleotide variant not provided [RCV003739441]|not specified [RCV003994583] Chr17:47286308 [GRCh38]
Chr17:45363674 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2334T>C (p.Ser778=) single nucleotide variant not provided [RCV003693028] Chr17:47310171 [GRCh38]
Chr17:45387537 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2014+9A>C single nucleotide variant not provided [RCV003690715] Chr17:47300587 [GRCh38]
Chr17:45377953 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.79+7G>A single nucleotide variant not provided [RCV003880185] Chr17:47253947 [GRCh38]
Chr17:45331313 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1374T>C (p.Asp458=) single nucleotide variant not provided [RCV003573592] Chr17:47292252 [GRCh38]
Chr17:45369618 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.939+14C>A single nucleotide variant not provided [RCV003715192] Chr17:47287245 [GRCh38]
Chr17:45364611 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1679A>C (p.Glu560Ala) single nucleotide variant not provided [RCV003693050] Chr17:47292557 [GRCh38]
Chr17:45369923 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2259C>T (p.Phe753=) single nucleotide variant ITGB3-related disorder [RCV003929229]|not provided [RCV003546030] Chr17:47307595 [GRCh38]
Chr17:45384961 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.361+12A>C single nucleotide variant not provided [RCV003574561] Chr17:47283561 [GRCh38]
Chr17:45360927 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1491T>C (p.Cys497=) single nucleotide variant not provided [RCV003824566] Chr17:47292369 [GRCh38]
Chr17:45369735 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1126-18G>A single nucleotide variant not provided [RCV003713597] Chr17:47290936 [GRCh38]
Chr17:45368302 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.81G>A (p.Gly27=) single nucleotide variant not provided [RCV003575319] Chr17:47274420 [GRCh38]
Chr17:45351786 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1677G>T (p.Gly559=) single nucleotide variant not provided [RCV003660686] Chr17:47292555 [GRCh38]
Chr17:45369921 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1866C>T (p.Asp622=) single nucleotide variant not provided [RCV003545290] Chr17:47299483 [GRCh38]
Chr17:45376849 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.850T>C (p.Leu284=) single nucleotide variant not provided [RCV003573463] Chr17:47287142 [GRCh38]
Chr17:45364508 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2134+17G>A single nucleotide variant not provided [RCV003663165] Chr17:47302857 [GRCh38]
Chr17:45380223 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.20C>T (p.Pro7Leu) single nucleotide variant not provided [RCV003882179] Chr17:47253881 [GRCh38]
Chr17:45331247 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1407T>C (p.Pro469=) single nucleotide variant not provided [RCV003544220] Chr17:47292285 [GRCh38]
Chr17:45369651 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2302-8del deletion not provided [RCV003544189] Chr17:47310130 [GRCh38]
Chr17:45387496 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.96C>T (p.Thr32=) single nucleotide variant ITGB3-related disorder [RCV003966524]|not provided [RCV003573510] Chr17:47274435 [GRCh38]
Chr17:45351801 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1905C>T (p.Thr635=) single nucleotide variant not provided [RCV003546228] Chr17:47299522 [GRCh38]
Chr17:45376888 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2301+7G>A single nucleotide variant not provided [RCV003548615] Chr17:47307644 [GRCh38]
Chr17:45385010 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.614+14C>A single nucleotide variant not provided [RCV003811799] Chr17:47284709 [GRCh38]
Chr17:45362075 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1261-20C>T single nucleotide variant not provided [RCV003716798] Chr17:47292119 [GRCh38]
Chr17:45369485 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.516C>T (p.Thr172=) single nucleotide variant not provided [RCV003717176] Chr17:47284597 [GRCh38]
Chr17:45361963 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1035+7G>A single nucleotide variant not provided [RCV003717383] Chr17:47289783 [GRCh38]
Chr17:45367149 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.43C>T (p.Leu15=) single nucleotide variant not provided [RCV005062532] Chr17:47253904 [GRCh38]
Chr17:45331270 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1125+17G>C single nucleotide variant not provided [RCV003666362] Chr17:47290291 [GRCh38]
Chr17:45367657 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1356C>A (p.Ile452=) single nucleotide variant not provided [RCV003717632] Chr17:47292234 [GRCh38]
Chr17:45369600 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1455A>G (p.Val485=) single nucleotide variant not provided [RCV003817158] Chr17:47292333 [GRCh38]
Chr17:45369699 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1126-14C>T single nucleotide variant not provided [RCV003670429] Chr17:47290940 [GRCh38]
Chr17:45368306 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.582C>T (p.Ser194=) single nucleotide variant not provided [RCV003817157] Chr17:47284663 [GRCh38]
Chr17:45362029 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2014+11C>G single nucleotide variant not provided [RCV003550171] Chr17:47300589 [GRCh38]
Chr17:45377955 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.183A>G (p.Ser61=) single nucleotide variant not provided [RCV003561704] Chr17:47283371 [GRCh38]
Chr17:45360737 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1690+20C>T single nucleotide variant not provided [RCV003673990] Chr17:47292588 [GRCh38]
Chr17:45369954 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.627C>G (p.Thr209=) single nucleotide variant not provided [RCV003559000] Chr17:47286272 [GRCh38]
Chr17:45363638 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2352G>A (p.Thr784=) single nucleotide variant not provided [RCV003717172] Chr17:47310189 [GRCh38]
Chr17:45387555 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1126-16G>A single nucleotide variant not provided [RCV003673849] Chr17:47290938 [GRCh38]
Chr17:45368304 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.166-7C>T single nucleotide variant not provided [RCV003725886] Chr17:47283347 [GRCh38]
Chr17:45360713 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.939+8C>T single nucleotide variant not provided [RCV003659293] Chr17:47287239 [GRCh38]
Chr17:45364605 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.876C>T (p.Val292=) single nucleotide variant not provided [RCV003837609] Chr17:47287168 [GRCh38]
Chr17:45364534 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1289G>C (p.Arg430Pro) single nucleotide variant not provided [RCV003659325] Chr17:47292167 [GRCh38]
Chr17:45369533 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1980C>T (p.Tyr660=) single nucleotide variant not provided [RCV003836341] Chr17:47300544 [GRCh38]
Chr17:45377910 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2301+12G>T single nucleotide variant not provided [RCV003560807] Chr17:47307649 [GRCh38]
Chr17:45385015 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1683G>A (p.Met561Ile) single nucleotide variant not provided [RCV003725614] Chr17:47292561 [GRCh38]
Chr17:45369927 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.155_156delinsTT (p.Cys52Phe) indel not provided [RCV003560016] Chr17:47274494..47274495 [GRCh38]
Chr17:45351860..45351861 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1754A>G (p.Asn585Ser) single nucleotide variant not provided [RCV003724246] Chr17:47299371 [GRCh38]
Chr17:45376737 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.264A>C (p.Arg88=) single nucleotide variant not provided [RCV003724255] Chr17:47283452 [GRCh38]
Chr17:45360818 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1728C>G (p.Asp576Glu) single nucleotide variant not provided [RCV003724281] Chr17:47299345 [GRCh38]
Chr17:45376711 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2172C>G (p.Leu724=) single nucleotide variant not provided [RCV003701768] Chr17:47307508 [GRCh38]
Chr17:45384874 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1260+20G>A single nucleotide variant not provided [RCV003672403] Chr17:47291108 [GRCh38]
Chr17:45368474 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2001dup (p.Val668fs) duplication not provided [RCV003813875] Chr17:47300564..47300565 [GRCh38]
Chr17:45377930..45377931 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.2014+10del deletion not provided [RCV003723975] Chr17:47300588 [GRCh38]
Chr17:45377954 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1401T>C (p.Ala467=) single nucleotide variant not provided [RCV003724288] Chr17:47292279 [GRCh38]
Chr17:45369645 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1260+15G>T single nucleotide variant not provided [RCV003702461] Chr17:47291103 [GRCh38]
Chr17:45368469 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1190A>G (p.Asn397Ser) single nucleotide variant not provided [RCV003725665] Chr17:47291018 [GRCh38]
Chr17:45368384 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.994T>C (p.Leu332=) single nucleotide variant not provided [RCV003855590] Chr17:47289735 [GRCh38]
Chr17:45367101 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1908del (p.Phe636fs) deletion not provided [RCV003839408] Chr17:47299523 [GRCh38]
Chr17:45376889 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.80-27_80-15del deletion not provided [RCV003673932] Chr17:47274392..47274404 [GRCh38]
Chr17:45351758..45351770 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1776C>T (p.Thr592=) single nucleotide variant not provided [RCV003724170] Chr17:47299393 [GRCh38]
Chr17:45376759 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1182A>G (p.Leu394=) single nucleotide variant not provided [RCV003724994] Chr17:47291010 [GRCh38]
Chr17:45368376 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1020A>C (p.Val340=) single nucleotide variant not provided [RCV003673636] Chr17:47289761 [GRCh38]
Chr17:45367127 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2070C>A (p.Val690=) single nucleotide variant not provided [RCV003856310] Chr17:47302776 [GRCh38]
Chr17:45380142 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.940-5C>T single nucleotide variant not provided [RCV003667147] Chr17:47289676 [GRCh38]
Chr17:45367042 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1261-2A>G single nucleotide variant not provided [RCV003671476] Chr17:47292137 [GRCh38]
Chr17:45369503 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1851G>A (p.Pro617=) single nucleotide variant not provided [RCV003838328] Chr17:47299468 [GRCh38]
Chr17:45376834 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.98C>T (p.Thr33Met) single nucleotide variant not provided [RCV003724990] Chr17:47274437 [GRCh38]
Chr17:45351803 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.816G>C (p.Leu272=) single nucleotide variant not provided [RCV003725215] Chr17:47287108 [GRCh38]
Chr17:45364474 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.748G>C (p.Asp250His) single nucleotide variant not provided [RCV003723288] Chr17:47286393 [GRCh38]
Chr17:45363759 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1690+19C>A single nucleotide variant not provided [RCV003666869] Chr17:47292587 [GRCh38]
Chr17:45369953 [GRCh37]
Chr17:17q21.32		 benign
NM_000212.3(ITGB3):c.165+13T>C single nucleotide variant not provided [RCV003666898] Chr17:47274517 [GRCh38]
Chr17:45351883 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2325G>A (p.Glu775=) single nucleotide variant not provided [RCV003699390] Chr17:47310162 [GRCh38]
Chr17:45387528 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1035+15G>A single nucleotide variant not provided [RCV003560216] Chr17:47289791 [GRCh38]
Chr17:45367157 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.166-8T>C single nucleotide variant not provided [RCV003725033] Chr17:47283346 [GRCh38]
Chr17:45360712 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1443dup (p.Glu482Ter) duplication not provided [RCV003724280] Chr17:47292318..47292319 [GRCh38]
Chr17:45369684..45369685 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1806C>T (p.Ser602=) single nucleotide variant not provided [RCV003724286] Chr17:47299423 [GRCh38]
Chr17:45376789 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.361+20C>T single nucleotide variant not provided [RCV003740414] Chr17:47283569 [GRCh38]
Chr17:45360935 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2151T>C (p.Pro717=) single nucleotide variant not provided [RCV003672225] Chr17:47307487 [GRCh38]
Chr17:45384853 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.615-17C>T single nucleotide variant not provided [RCV003815116] Chr17:47286243 [GRCh38]
Chr17:45363609 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1035+18C>T single nucleotide variant not provided [RCV003699525] Chr17:47289794 [GRCh38]
Chr17:45367160 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.79+15G>A single nucleotide variant not provided [RCV003701502]|not specified [RCV003994576] Chr17:47253955 [GRCh38]
Chr17:45331321 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.597C>T (p.Leu199=) single nucleotide variant not provided [RCV003559750] Chr17:47284678 [GRCh38]
Chr17:45362044 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.129G>C (p.Leu43=) single nucleotide variant not provided [RCV003724469] Chr17:47274468 [GRCh38]
Chr17:45351834 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.362-18C>T single nucleotide variant not provided [RCV003579886] Chr17:47284425 [GRCh38]
Chr17:45361791 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2301+20G>A single nucleotide variant not provided [RCV003814674] Chr17:47307657 [GRCh38]
Chr17:45385023 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.99G>A (p.Thr33=) single nucleotide variant not provided [RCV003725052] Chr17:47274438 [GRCh38]
Chr17:45351804 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.303A>G (p.Gly101=) single nucleotide variant ITGB3-related disorder [RCV003919292]|not provided [RCV003560214] Chr17:47283491 [GRCh38]
Chr17:45360857 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1572G>A (p.Arg524=) single nucleotide variant not provided [RCV003696838] Chr17:47292450 [GRCh38]
Chr17:45369816 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1756T>C (p.Cys586Arg) single nucleotide variant not provided [RCV003560017] Chr17:47299373 [GRCh38]
Chr17:45376739 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1260+19G>A single nucleotide variant not provided [RCV003557889] Chr17:47291107 [GRCh38]
Chr17:45368473 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1671C>A (p.Tyr557Ter) single nucleotide variant not provided [RCV003700403] Chr17:47292549 [GRCh38]
Chr17:45369915 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1690+19C>T single nucleotide variant not provided [RCV003838389] Chr17:47292587 [GRCh38]
Chr17:45369953 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1390C>G (p.Gln464Glu) single nucleotide variant not provided [RCV003557973] Chr17:47292268 [GRCh38]
Chr17:45369634 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.195C>T (p.Asp65=) single nucleotide variant not provided [RCV003559050] Chr17:47283383 [GRCh38]
Chr17:45360749 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1690+19C>G single nucleotide variant not provided [RCV003558207] Chr17:47292587 [GRCh38]
Chr17:45369953 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1560C>G (p.Val520=) single nucleotide variant not provided [RCV003814829] Chr17:47292438 [GRCh38]
Chr17:45369804 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1536C>T (p.Cys512=) single nucleotide variant not provided [RCV003725152] Chr17:47292414 [GRCh38]
Chr17:45369780 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1690+6_1690+8del microsatellite not provided [RCV003833241] Chr17:47292571..47292573 [GRCh38]
Chr17:45369937..45369939 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1904C>G (p.Thr635Ser) single nucleotide variant not provided [RCV003838939] Chr17:47299521 [GRCh38]
Chr17:45376887 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2163G>T (p.Val721=) single nucleotide variant not provided [RCV003725536] Chr17:47307499 [GRCh38]
Chr17:45384865 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.166-11C>T single nucleotide variant not provided [RCV003710236] Chr17:47283343 [GRCh38]
Chr17:45360709 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.396G>A (p.Gln132=) single nucleotide variant not provided [RCV003711974] Chr17:47284477 [GRCh38]
Chr17:45361843 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.940-20T>C single nucleotide variant not provided [RCV003845593] Chr17:47289661 [GRCh38]
Chr17:45367027 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.79+7G>C single nucleotide variant not provided [RCV003734454] Chr17:47253947 [GRCh38]
Chr17:45331313 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1036-14G>C single nucleotide variant not provided [RCV003706408] Chr17:47290171 [GRCh38]
Chr17:45367537 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.166-13T>C single nucleotide variant not provided [RCV003681067] Chr17:47283341 [GRCh38]
Chr17:45360707 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1659C>T (p.Ser553=) single nucleotide variant not provided [RCV003728461] Chr17:47292537 [GRCh38]
Chr17:45369903 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1530C>T (p.Asp510=) single nucleotide variant not provided [RCV003553212] Chr17:47292408 [GRCh38]
Chr17:45369774 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2184G>A (p.Gly728=) single nucleotide variant not provided [RCV003556725] Chr17:47307520 [GRCh38]
Chr17:45384886 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1036-8C>T single nucleotide variant not provided [RCV003731648] Chr17:47290177 [GRCh38]
Chr17:45367543 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2172C>T (p.Leu724=) single nucleotide variant not provided [RCV003731767] Chr17:47307508 [GRCh38]
Chr17:45384874 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2319T>C (p.Tyr773=) single nucleotide variant not provided [RCV003555337] Chr17:47310156 [GRCh38]
Chr17:45387522 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2274A>G (p.Glu758=) single nucleotide variant not provided [RCV003703893] Chr17:47307610 [GRCh38]
Chr17:45384976 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1461T>C (p.Arg487=) single nucleotide variant not provided [RCV003818309] Chr17:47292339 [GRCh38]
Chr17:45369705 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.594C>T (p.Ala198=) single nucleotide variant not provided [RCV003729536] Chr17:47284675 [GRCh38]
Chr17:45362041 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.930C>T (p.Ser310=) single nucleotide variant not provided [RCV003864160] Chr17:47287222 [GRCh38]
Chr17:45364588 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.614+15C>T single nucleotide variant not provided [RCV003846191] Chr17:47284710 [GRCh38]
Chr17:45362076 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1557C>G (p.Pro519=) single nucleotide variant not provided [RCV003704216] Chr17:47292435 [GRCh38]
Chr17:45369801 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1116T>C (p.Asp372=) single nucleotide variant not provided [RCV003820117] Chr17:47290265 [GRCh38]
Chr17:45367631 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.354C>T (p.Leu118=) single nucleotide variant not provided [RCV003730586] Chr17:47283542 [GRCh38]
Chr17:45360908 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1500A>G (p.Ser500=) single nucleotide variant not provided [RCV003728501] Chr17:47292378 [GRCh38]
Chr17:45369744 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.777+18G>C single nucleotide variant not provided [RCV003706561] Chr17:47286440 [GRCh38]
Chr17:45363806 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.486C>A (p.Thr162=) single nucleotide variant not provided [RCV003734040] Chr17:47284567 [GRCh38]
Chr17:45361933 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1914-20C>T single nucleotide variant not provided [RCV003728918] Chr17:47300458 [GRCh38]
Chr17:45377824 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.397G>A (p.Val133Met) single nucleotide variant not provided [RCV003729903] Chr17:47284478 [GRCh38]
Chr17:45361844 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1080del (p.Met361fs) deletion not provided [RCV003555705] Chr17:47290228 [GRCh38]
Chr17:45367594 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.79+20G>T single nucleotide variant not provided [RCV003854135] Chr17:47253960 [GRCh38]
Chr17:45331326 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.240C>T (p.Ile80=) single nucleotide variant not provided [RCV003556663] Chr17:47283428 [GRCh38]
Chr17:45360794 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1035+19T>C single nucleotide variant not provided [RCV003820684] Chr17:47289795 [GRCh38]
Chr17:45367161 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.79+7G>T single nucleotide variant not provided [RCV003730980] Chr17:47253947 [GRCh38]
Chr17:45331313 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.615-8C>T single nucleotide variant not provided [RCV003728611] Chr17:47286252 [GRCh38]
Chr17:45363618 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.708G>A (p.Gln236=) single nucleotide variant not provided [RCV003729380] Chr17:47286353 [GRCh38]
Chr17:45363719 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1914-11C>T single nucleotide variant not provided [RCV003565959] Chr17:47300467 [GRCh38]
Chr17:45377833 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1953A>C (p.Leu651=) single nucleotide variant not provided [RCV003842478] Chr17:47300517 [GRCh38]
Chr17:45377883 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2134+12C>T single nucleotide variant not provided [RCV003707043] Chr17:47302852 [GRCh38]
Chr17:45380218 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1540C>G (p.Pro514Ala) single nucleotide variant Inborn genetic diseases [RCV004374230]|not provided [RCV003734270] Chr17:47292418 [GRCh38]
Chr17:45369784 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.864G>A (p.Leu288=) single nucleotide variant not provided [RCV003733305] Chr17:47287156 [GRCh38]
Chr17:45364522 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2163G>A (p.Val721=) single nucleotide variant not provided [RCV003551129] Chr17:47307499 [GRCh38]
Chr17:45384865 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2134+10C>A single nucleotide variant not provided [RCV003730808] Chr17:47302850 [GRCh38]
Chr17:45380216 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.940-15C>T single nucleotide variant not provided [RCV003870563] Chr17:47289666 [GRCh38]
Chr17:45367032 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.981G>A (p.Gln327=) single nucleotide variant not provided [RCV003732917] Chr17:47289722 [GRCh38]
Chr17:45367088 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.75A>G (p.Val25=) single nucleotide variant not provided [RCV003737078] Chr17:47253936 [GRCh38]
Chr17:45331302 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1261-4C>G single nucleotide variant not provided [RCV003737081] Chr17:47292135 [GRCh38]
Chr17:45369501 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.615-6C>T single nucleotide variant not provided [RCV003737090] Chr17:47286254 [GRCh38]
Chr17:45363620 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.27G>A (p.Pro9=) single nucleotide variant ITGB3-related disorder [RCV003929367]|not provided [RCV003846899] Chr17:47253888 [GRCh38]
Chr17:45331254 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.672C>G (p.Asp224Glu) single nucleotide variant not provided [RCV003722207] Chr17:47286317 [GRCh38]
Chr17:45363683 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.79+9G>C single nucleotide variant not provided [RCV003870714] Chr17:47253949 [GRCh38]
Chr17:45331315 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1740C>T (p.Thr580=) single nucleotide variant not provided [RCV003720539] Chr17:47299357 [GRCh38]
Chr17:45376723 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.361+11dup duplication not provided [RCV003566550] Chr17:47283557..47283558 [GRCh38]
Chr17:45360923..45360924 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1240G>C (p.Gly414Arg) single nucleotide variant not provided [RCV003711863] Chr17:47291068 [GRCh38]
Chr17:45368434 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2135-10_2135-8del microsatellite not provided [RCV003871151] Chr17:47307457..47307459 [GRCh38]
Chr17:45384823..45384825 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1458C>T (p.Cys486=) single nucleotide variant not provided [RCV003565094] Chr17:47292336 [GRCh38]
Chr17:45369702 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1021G>A (p.Val341Ile) single nucleotide variant not provided [RCV003684547] Chr17:47289762 [GRCh38]
Chr17:45367128 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1260+17A>G single nucleotide variant not provided [RCV003867267] Chr17:47291105 [GRCh38]
Chr17:45368471 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1542C>G (p.Pro514=) single nucleotide variant not provided [RCV003562619] Chr17:47292420 [GRCh38]
Chr17:45369786 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1394C>T (p.Ala465Val) single nucleotide variant not provided [RCV003842243] Chr17:47292272 [GRCh38]
Chr17:45369638 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2226A>G (p.Lys742=) single nucleotide variant not provided [RCV003708441] Chr17:47307562 [GRCh38]
Chr17:45384928 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1035+1G>A single nucleotide variant not provided [RCV003734017] Chr17:47289777 [GRCh38]
Chr17:45367143 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1068T>C (p.Val356=) single nucleotide variant not provided [RCV003868183] Chr17:47290217 [GRCh38]
Chr17:45367583 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2280C>T (p.Arg760=) single nucleotide variant not provided [RCV003737549] Chr17:47307616 [GRCh38]
Chr17:45384982 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2301+10G>A single nucleotide variant not provided [RCV003554754] Chr17:47307647 [GRCh38]
Chr17:45385013 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1690+17G>C single nucleotide variant not provided [RCV003684406] Chr17:47292585 [GRCh38]
Chr17:45369951 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.96C>A (p.Thr32=) single nucleotide variant not provided [RCV003684431] Chr17:47274435 [GRCh38]
Chr17:45351801 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.939+1G>T single nucleotide variant Myocardial infarction, susceptibility to [RCV005014897]|not provided [RCV003720246] Chr17:47287232 [GRCh38]
Chr17:45364598 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1833C>T (p.Ser611=) single nucleotide variant not provided [RCV003720247] Chr17:47299450 [GRCh38]
Chr17:45376816 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1746C>T (p.Tyr582=) single nucleotide variant not provided [RCV003720346] Chr17:47299363 [GRCh38]
Chr17:45376729 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.654C>T (p.His218=) single nucleotide variant not provided [RCV003719753] Chr17:47286299 [GRCh38]
Chr17:45363665 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.444C>T (p.Tyr148=) single nucleotide variant not provided [RCV003721638] Chr17:47284525 [GRCh38]
Chr17:45361891 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.614+17_614+18del deletion not provided [RCV003683693] Chr17:47284711..47284712 [GRCh38]
Chr17:45362077..45362078 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1098C>T (p.Val366=) single nucleotide variant not provided [RCV003720088] Chr17:47290247 [GRCh38]
Chr17:45367613 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1512T>C (p.Tyr504=) single nucleotide variant not provided [RCV003872317] Chr17:47292390 [GRCh38]
Chr17:45369756 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2014+13C>T single nucleotide variant not provided [RCV003683594] Chr17:47300591 [GRCh38]
Chr17:45377957 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.80-9_80-6del microsatellite not provided [RCV003542126] Chr17:47274403..47274406 [GRCh38]
Chr17:45351769..45351772 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.567A>C (p.Pro189=) single nucleotide variant not provided [RCV003729273] Chr17:47284648 [GRCh38]
Chr17:45362014 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1126-14C>A single nucleotide variant not provided [RCV003822096] Chr17:47290940 [GRCh38]
Chr17:45368306 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.778-9T>C single nucleotide variant not provided [RCV003709310] Chr17:47287061 [GRCh38]
Chr17:45364427 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.79+19C>A single nucleotide variant not provided [RCV003555350] Chr17:47253959 [GRCh38]
Chr17:45331325 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2130G>C (p.Glu710Asp) single nucleotide variant not provided [RCV003737113] Chr17:47302836 [GRCh38]
Chr17:45380202 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1918T>C (p.Cys640Arg) single nucleotide variant not provided [RCV003720077] Chr17:47300482 [GRCh38]
Chr17:45377848 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1795C>T (p.Leu599=) single nucleotide variant not provided [RCV003722532] Chr17:47299412 [GRCh38]
Chr17:45376778 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.843T>C (p.His281=) single nucleotide variant not provided [RCV003704829] Chr17:47287135 [GRCh38]
Chr17:45364501 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2301+19C>T single nucleotide variant not provided [RCV003734780] Chr17:47307656 [GRCh38]
Chr17:45385022 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.614+20G>A single nucleotide variant not provided [RCV003719124] Chr17:47284715 [GRCh38]
Chr17:45362081 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2025C>G (p.Gly675=) single nucleotide variant not provided [RCV003820856] Chr17:47302731 [GRCh38]
Chr17:45380097 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.369G>A (p.Ser123=) single nucleotide variant ITGB3-related disorder [RCV003948956]|not provided [RCV003719980] Chr17:47284450 [GRCh38]
Chr17:45361816 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1593A>G (p.Gln531=) single nucleotide variant not provided [RCV003719984] Chr17:47292471 [GRCh38]
Chr17:45369837 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2014+8C>T single nucleotide variant not provided [RCV003722775] Chr17:47300586 [GRCh38]
Chr17:45377952 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2313A>T (p.Pro771=) single nucleotide variant not provided [RCV003722871] Chr17:47310150 [GRCh38]
Chr17:45387516 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1527G>A (p.Gln509=) single nucleotide variant not provided [RCV003728260] Chr17:47292405 [GRCh38]
Chr17:45369771 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1261-6A>G single nucleotide variant not provided [RCV003555713] Chr17:47292133 [GRCh38]
Chr17:45369499 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.4C>A (p.Arg2=) single nucleotide variant not provided [RCV003869554] Chr17:47253865 [GRCh38]
Chr17:45331231 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.361+17_361+18del deletion not provided [RCV003721846] Chr17:47283565..47283566 [GRCh38]
Chr17:45360931..45360932 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.849A>G (p.Ala283=) single nucleotide variant not provided [RCV003568713] Chr17:47287141 [GRCh38]
Chr17:45364507 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1107C>G (p.Leu369=) single nucleotide variant not provided [RCV003719473] Chr17:47290256 [GRCh38]
Chr17:45367622 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1035+18C>A single nucleotide variant not provided [RCV003737581] Chr17:47289794 [GRCh38]
Chr17:45367160 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.49C>T (p.Leu17=) single nucleotide variant not provided [RCV003720388] Chr17:47253910 [GRCh38]
Chr17:45331276 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV003864212] Chr17:47253862 [GRCh38]
Chr17:45331228 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.615-9C>T single nucleotide variant not provided [RCV003722167] Chr17:47286251 [GRCh38]
Chr17:45363617 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.79+16G>A single nucleotide variant not provided [RCV003862150] Chr17:47253956 [GRCh38]
Chr17:45331322 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.762G>A (p.Gln254=) single nucleotide variant not provided [RCV003554797] Chr17:47286407 [GRCh38]
Chr17:45363773 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.54G>A (p.Gly18=) single nucleotide variant not provided [RCV003719756] Chr17:47253915 [GRCh38]
Chr17:45331281 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.576T>C (p.Tyr192=) single nucleotide variant not provided [RCV003722446] Chr17:47284657 [GRCh38]
Chr17:45362023 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2134+16C>T single nucleotide variant not provided [RCV003866728] Chr17:47302856 [GRCh38]
Chr17:45380222 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.362-20A>G single nucleotide variant not provided [RCV003707193] Chr17:47284423 [GRCh38]
Chr17:45361789 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1761C>T (p.Thr587=) single nucleotide variant not provided [RCV003709901] Chr17:47299378 [GRCh38]
Chr17:45376744 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.778-12T>C single nucleotide variant not provided [RCV003681003] Chr17:47287058 [GRCh38]
Chr17:45364424 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.621G>A (p.Lys207=) single nucleotide variant not provided [RCV003819104] Chr17:47286266 [GRCh38]
Chr17:45363632 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.427T>C (p.Leu143=) single nucleotide variant not provided [RCV003730585] Chr17:47284508 [GRCh38]
Chr17:45361874 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1227C>T (p.Leu409=) single nucleotide variant not provided [RCV003730672] Chr17:47291055 [GRCh38]
Chr17:45368421 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.166-13T>G single nucleotide variant not provided [RCV003709995] Chr17:47283341 [GRCh38]
Chr17:45360707 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1464T>C (p.Cys488=) single nucleotide variant not provided [RCV003863482] Chr17:47292342 [GRCh38]
Chr17:45369708 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.79+14C>T single nucleotide variant not provided [RCV003554214] Chr17:47253954 [GRCh38]
Chr17:45331320 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1854C>A (p.Gly618=) single nucleotide variant not provided [RCV003734917] Chr17:47299471 [GRCh38]
Chr17:45376837 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1544_1545delinsAA (p.Arg515Gln) indel not provided [RCV003732063] Chr17:47292422..47292423 [GRCh38]
Chr17:45369788..45369789 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1260+17A>C single nucleotide variant not provided [RCV003732074] Chr17:47291105 [GRCh38]
Chr17:45368471 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1368C>A (p.Thr456=) single nucleotide variant not provided [RCV003733837] Chr17:47292246 [GRCh38]
Chr17:45369612 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1035+14C>G single nucleotide variant not provided [RCV003823725] Chr17:47289790 [GRCh38]
Chr17:45367156 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1757G>C (p.Cys586Ser) single nucleotide variant not provided [RCV003857983] Chr17:47299374 [GRCh38]
Chr17:45376740 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1914-14C>T single nucleotide variant not provided [RCV003729326] Chr17:47300464 [GRCh38]
Chr17:45377830 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.30C>G (p.Leu10=) single nucleotide variant not provided [RCV003729388] Chr17:47253891 [GRCh38]
Chr17:45331257 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.978C>T (p.Ser326=) single nucleotide variant not provided [RCV003858225] Chr17:47289719 [GRCh38]
Chr17:45367085 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.21C>G (p.Pro7=) single nucleotide variant not provided [RCV003727081] Chr17:47253882 [GRCh38]
Chr17:45331248 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.79+20G>C single nucleotide variant not provided [RCV003844366] Chr17:47253960 [GRCh38]
Chr17:45331326 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.546T>C (p.Phe182=) single nucleotide variant not provided [RCV003728236] Chr17:47284627 [GRCh38]
Chr17:45361993 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.18G>T (p.Arg6=) single nucleotide variant not provided [RCV003858190] Chr17:47253879 [GRCh38]
Chr17:45331245 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.990C>A (p.Ile330=) single nucleotide variant not provided [RCV003676976] Chr17:47289731 [GRCh38]
Chr17:45367097 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.603C>A (p.Asn201Lys) single nucleotide variant not provided [RCV003843228] Chr17:47284684 [GRCh38]
Chr17:45362050 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2243A>G (p.His748Arg) single nucleotide variant not provided [RCV003551293] Chr17:47307579 [GRCh38]
Chr17:45384945 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.778-4A>C single nucleotide variant not provided [RCV003678309] Chr17:47287066 [GRCh38]
Chr17:45364432 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2007A>G (p.Lys669=) single nucleotide variant not provided [RCV003732821] Chr17:47300571 [GRCh38]
Chr17:45377937 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2000_2003del (p.Glu666_Ser667insTer) deletion not provided [RCV003728752] Chr17:47300561..47300564 [GRCh38]
Chr17:45377927..45377930 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.984A>G (p.Lys328=) single nucleotide variant not provided [RCV003729839] Chr17:47289725 [GRCh38]
Chr17:45367091 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1332C>T (p.Pro444=) single nucleotide variant not provided [RCV003550417] Chr17:47292210 [GRCh38]
Chr17:45369576 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2043T>C (p.Cys681=) single nucleotide variant not provided [RCV003729849] Chr17:47302749 [GRCh38]
Chr17:45380115 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.615-1G>C single nucleotide variant not provided [RCV003735983] Chr17:47286259 [GRCh38]
Chr17:45363625 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1218C>A (p.Ile406=) single nucleotide variant not provided [RCV003729834] Chr17:47291046 [GRCh38]
Chr17:45368412 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1035+10C>T single nucleotide variant not provided [RCV003550583] Chr17:47289786 [GRCh38]
Chr17:45367152 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.777+2T>G single nucleotide variant not provided [RCV003706727] Chr17:47286424 [GRCh38]
Chr17:45363790 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1968C>T (p.Thr656=) single nucleotide variant not provided [RCV003706734] Chr17:47300532 [GRCh38]
Chr17:45377898 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.105T>C (p.Gly35=) single nucleotide variant not provided [RCV003730029] Chr17:47274444 [GRCh38]
Chr17:45351810 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2211C>G (p.Ala737=) single nucleotide variant not provided [RCV003842734] Chr17:47307547 [GRCh38]
Chr17:45384913 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.362-11C>G single nucleotide variant not provided [RCV003551867] Chr17:47284432 [GRCh38]
Chr17:45361798 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.23G>C (p.Arg8Pro) single nucleotide variant not provided [RCV003562898] Chr17:47253884 [GRCh38]
Chr17:45331250 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1566C>T (p.Ser522=) single nucleotide variant not provided [RCV003567275] Chr17:47292444 [GRCh38]
Chr17:45369810 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2203C>A (p.Leu735Ile) single nucleotide variant not provided [RCV003731522] Chr17:47307539 [GRCh38]
Chr17:45384905 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.690T>C (p.Asn230=) single nucleotide variant not provided [RCV003676568] Chr17:47286335 [GRCh38]
Chr17:45363701 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2014+14A>C single nucleotide variant not provided [RCV003675280] Chr17:47300592 [GRCh38]
Chr17:45377958 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1125+18G>A single nucleotide variant not provided [RCV003863390] Chr17:47290292 [GRCh38]
Chr17:45367658 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.855C>T (p.Asp285=) single nucleotide variant not provided [RCV003734504] Chr17:47287147 [GRCh38]
Chr17:45364513 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1088C>G (p.Ser363Cys) single nucleotide variant not specified [RCV003994912] Chr17:47290237 [GRCh38]
Chr17:45367603 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2085C>G (p.Tyr695Ter) single nucleotide variant Glanzmann thrombasthenia [RCV004018191] Chr17:47302791 [GRCh38]
Chr17:45380157 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.428T>C (p.Leu143Ser) single nucleotide variant Glanzmann thrombasthenia [RCV004577679] Chr17:47284509 [GRCh38]
Chr17:45361875 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1431C>T (p.Gly477=) single nucleotide variant Glanzmann thrombasthenia [RCV004577681] Chr17:47292309 [GRCh38]
Chr17:45369675 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1955A>G (p.His652Arg) single nucleotide variant Inborn genetic diseases [RCV004405818] Chr17:47300519 [GRCh38]
Chr17:45377885 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2144A>C (p.Lys715Thr) single nucleotide variant Inborn genetic diseases [RCV004405819] Chr17:47307480 [GRCh38]
Chr17:45384846 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.281C>T (p.Pro94Leu) single nucleotide variant Inborn genetic diseases [RCV004405820] Chr17:47283469 [GRCh38]
Chr17:45360835 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.67G>T (p.Val23Phe) single nucleotide variant ITGB3-related disorder [RCV004750958]|Inborn genetic diseases [RCV004405821]|not provided [RCV005104484] Chr17:47253928 [GRCh38]
Chr17:45331294 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.782A>G (p.Lys261Arg) single nucleotide variant Inborn genetic diseases [RCV004405822] Chr17:47287074 [GRCh38]
Chr17:45364440 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1948G>A (p.Ala650Thr) single nucleotide variant Inborn genetic diseases [RCV004405817] Chr17:47300512 [GRCh38]
Chr17:45377878 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1900T>C (p.Cys634Arg) single nucleotide variant Inborn genetic diseases [RCV004405816] Chr17:47299517 [GRCh38]
Chr17:45376883 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2222G>A (p.Trp741Ter) single nucleotide variant Glanzmann thrombasthenia [RCV004577683] Chr17:47307558 [GRCh38]
Chr17:45384924 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1412G>T (p.Ser471Ile) single nucleotide variant Glanzmann thrombasthenia [RCV004577690] Chr17:47292290 [GRCh38]
Chr17:45369656 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.563C>T (p.Ser188Leu) single nucleotide variant Glanzmann thrombasthenia [RCV004577691] Chr17:47284644 [GRCh38]
Chr17:45362010 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1448G>A (p.Cys483Tyr) single nucleotide variant Glanzmann thrombasthenia [RCV004577686] Chr17:47292326 [GRCh38]
Chr17:45369692 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.1815C>T (p.Gly605=) single nucleotide variant Glanzmann thrombasthenia [RCV004577680] Chr17:47299432 [GRCh38]
Chr17:45376798 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.1514G>A (p.Arg505His) single nucleotide variant Inborn genetic diseases [RCV004405815] Chr17:47292392 [GRCh38]
Chr17:45369758 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.615T>C (p.Asp205=) single nucleotide variant Inborn genetic diseases [RCV004633461] Chr17:47286260 [GRCh38]
Chr17:45363626 [GRCh37]
Chr17:17q21.32		 likely benign
NC_000017.10:g.(?_45380067)_(45380226_?)del deletion not provided [RCV004581353] Chr17:45380067..45380226 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1118C>T (p.Ala373Val) single nucleotide variant Glanzmann thrombasthenia 2 [RCV004585195] Chr17:47290267 [GRCh38]
Chr17:45367633 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.235T>G (p.Ser79Ala) single nucleotide variant Inborn genetic diseases [RCV004633463] Chr17:47283423 [GRCh38]
Chr17:45360789 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1587T>G (p.Cys529Trp) single nucleotide variant Inborn genetic diseases [RCV004633464] Chr17:47292465 [GRCh38]
Chr17:45369831 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.776A>T (p.Asp259Val) single nucleotide variant Inborn genetic diseases [RCV004633462] Chr17:47286421 [GRCh38]
Chr17:45363787 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.875T>C (p.Val292Ala) single nucleotide variant Inborn genetic diseases [RCV004633460] Chr17:47287167 [GRCh38]
Chr17:45364533 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1289G>A (p.Arg430Gln) single nucleotide variant Inborn genetic diseases [RCV004633465] Chr17:47292167 [GRCh38]
Chr17:45369533 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1084G>A (p.Asp362Asn) single nucleotide variant not provided [RCV004794295] Chr17:47290233 [GRCh38]
Chr17:45367599 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2357G>A (p.Arg786Gln) single nucleotide variant ITGB3-related disorder [RCV004752415] Chr17:47310194 [GRCh38]
Chr17:45387560 [GRCh37]
Chr17:17q21.32		 uncertain significance
Single allele deletion Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759420] Chr17:41231503..41277589 [GRCh37]
Chr17:17q21.31-22		 pathogenic
GRCh37/hg19 17q12-22(chr17:41196270-41277589) copy number loss Breast-ovarian cancer, familial, susceptibility to, 1 [RCV004759419] Chr17:41196270..41277589 [GRCh37]
Chr17:17q12-22		 pathogenic
NM_000212.3(ITGB3):c.2231T>G (p.Leu744Arg) single nucleotide variant ITGB3-related disorder [RCV004730516] Chr17:47307567 [GRCh38]
Chr17:45384933 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1801T>A (p.Cys601Ser) single nucleotide variant Glanzmann thrombasthenia 2 [RCV004702727] Chr17:47299418 [GRCh38]
Chr17:45376784 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.222C>G (p.Asn74Lys) single nucleotide variant Inborn genetic diseases [RCV004988056]|not provided [RCV005110382] Chr17:47283410 [GRCh38]
Chr17:45360776 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1571G>A (p.Arg524Gln) single nucleotide variant Inborn genetic diseases [RCV004988059]|not provided [RCV005110383] Chr17:47292449 [GRCh38]
Chr17:45369815 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.757A>T (p.Met253Leu) single nucleotide variant Inborn genetic diseases [RCV004988060] Chr17:47286402 [GRCh38]
Chr17:45363768 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1513C>T (p.Arg505Cys) single nucleotide variant Inborn genetic diseases [RCV004988055] Chr17:47292391 [GRCh38]
Chr17:45369757 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.77G>A (p.Gly26Glu) single nucleotide variant Inborn genetic diseases [RCV004988057] Chr17:47253938 [GRCh38]
Chr17:45331304 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.997A>G (p.Ile333Val) single nucleotide variant Inborn genetic diseases [RCV004988058] Chr17:47289738 [GRCh38]
Chr17:45367104 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1976G>A (p.Arg659His) single nucleotide variant not provided [RCV005060517]|not specified [RCV005060518] Chr17:47300540 [GRCh38]
Chr17:45377906 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.207T>A (p.Asn69Lys) single nucleotide variant not provided [RCV005173174] Chr17:47283395 [GRCh38]
Chr17:45360761 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1188C>T (p.Phe396=) single nucleotide variant not provided [RCV005196691] Chr17:47291016 [GRCh38]
Chr17:45368382 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1860T>C (p.Tyr620=) single nucleotide variant not provided [RCV005145484] Chr17:47299477 [GRCh38]
Chr17:45376843 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1844T>C (p.Ile615Thr) single nucleotide variant not provided [RCV005106623] Chr17:47299461 [GRCh38]
Chr17:45376827 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.386A>T (p.Gln129Leu) single nucleotide variant not provided [RCV005085889] Chr17:47284467 [GRCh38]
Chr17:45361833 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1333G>A (p.Val445Met) single nucleotide variant not provided [RCV005171772] Chr17:47292211 [GRCh38]
Chr17:45369577 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2351C>T (p.Thr784Met) single nucleotide variant Myocardial infarction, susceptibility to [RCV005020430]|not provided [RCV005112679] Chr17:47310188 [GRCh38]
Chr17:45387554 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1482A>C (p.Gly494=) single nucleotide variant not provided [RCV005085416] Chr17:47292360 [GRCh38]
Chr17:45369726 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.777+7T>C single nucleotide variant not provided [RCV005116443] Chr17:47286429 [GRCh38]
Chr17:45363795 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2228_2235del (p.Leu743fs) deletion not provided [RCV005132428] Chr17:47307563..47307570 [GRCh38]
Chr17:45384929..45384936 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1260+9G>A single nucleotide variant Glanzmann thrombasthenia 2 [RCV005215803] Chr17:47291097 [GRCh38]
Chr17:45368463 [GRCh37]
Chr17:17q21.32		 likely pathogenic
NM_000212.3(ITGB3):c.2216T>C (p.Leu739Pro) single nucleotide variant not provided [RCV005134422] Chr17:47307552 [GRCh38]
Chr17:45384918 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.786T>C (p.Ile262=) single nucleotide variant not provided [RCV005194378] Chr17:47287078 [GRCh38]
Chr17:45364444 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.15G>A (p.Pro5=) single nucleotide variant not provided [RCV005186923] Chr17:47253876 [GRCh38]
Chr17:45331242 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.79+18T>A single nucleotide variant not provided [RCV005120233] Chr17:47253958 [GRCh38]
Chr17:45331324 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2269G>A (p.Glu757Lys) single nucleotide variant not provided [RCV005149954] Chr17:47307605 [GRCh38]
Chr17:45384971 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2170C>T (p.Leu724Phe) single nucleotide variant not provided [RCV005189085] Chr17:47307506 [GRCh38]
Chr17:45384872 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.296del (p.Gly99fs) deletion not provided [RCV005119999] Chr17:47283482 [GRCh38]
Chr17:45360848 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.166-14C>T single nucleotide variant not provided [RCV005160530] Chr17:47283340 [GRCh38]
Chr17:45360706 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.246C>A (p.Phe82Leu) single nucleotide variant not provided [RCV005192801] Chr17:47283434 [GRCh38]
Chr17:45360800 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1666C>T (p.Arg556Cys) single nucleotide variant not provided [RCV005185373] Chr17:47292544 [GRCh38]
Chr17:45369910 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2199T>A (p.Ile733=) single nucleotide variant not provided [RCV005117423] Chr17:47307535 [GRCh38]
Chr17:45384901 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1335G>C (p.Val445=) single nucleotide variant not provided [RCV005132462] Chr17:47292213 [GRCh38]
Chr17:45369579 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.135G>C (p.Val45=) single nucleotide variant not provided [RCV005121822] Chr17:47274474 [GRCh38]
Chr17:45351840 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1629G>A (p.Thr543=) single nucleotide variant not provided [RCV005188042] Chr17:47292507 [GRCh38]
Chr17:45369873 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.575A>G (p.Tyr192Cys) single nucleotide variant not provided [RCV005200296] Chr17:47284656 [GRCh38]
Chr17:45362022 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.348C>T (p.Leu116=) single nucleotide variant not provided [RCV005187890] Chr17:47283536 [GRCh38]
Chr17:45360902 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.509A>G (p.Lys170Arg) single nucleotide variant not provided [RCV005143700] Chr17:47284590 [GRCh38]
Chr17:45361956 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.570C>T (p.Tyr190=) single nucleotide variant not provided [RCV005074934] Chr17:47284651 [GRCh38]
Chr17:45362017 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.420C>A (p.Ile140=) single nucleotide variant not provided [RCV005186122] Chr17:47284501 [GRCh38]
Chr17:45361867 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2020A>T (p.Thr674Ser) single nucleotide variant not provided [RCV005144667] Chr17:47302726 [GRCh38]
Chr17:45380092 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1426A>G (p.Asn476Asp) single nucleotide variant not provided [RCV005132585] Chr17:47292304 [GRCh38]
Chr17:45369670 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.939+11T>C single nucleotide variant not provided [RCV005169682] Chr17:47287242 [GRCh38]
Chr17:45364608 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1261-4C>T single nucleotide variant not provided [RCV005119553] Chr17:47292135 [GRCh38]
Chr17:45369501 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1176G>A (p.Leu392=) single nucleotide variant not provided [RCV005194666] Chr17:47291004 [GRCh38]
Chr17:45368370 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1732G>C (p.Asp578His) single nucleotide variant not provided [RCV005083249] Chr17:47299349 [GRCh38]
Chr17:45376715 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.66C>A (p.Gly22=) single nucleotide variant not provided [RCV005151266] Chr17:47253927 [GRCh38]
Chr17:45331293 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1283A>C (p.Lys428Thr) single nucleotide variant not provided [RCV005118257] Chr17:47292161 [GRCh38]
Chr17:45369527 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.2224A>T (p.Lys742Ter) single nucleotide variant not provided [RCV005164994] Chr17:47307560 [GRCh38]
Chr17:45384926 [GRCh37]
Chr17:17q21.32		 pathogenic
NM_000212.3(ITGB3):c.939+8C>A single nucleotide variant not provided [RCV005165943] Chr17:47287239 [GRCh38]
Chr17:45364605 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2024G>A (p.Gly675Asp) single nucleotide variant not provided [RCV005192511] Chr17:47302730 [GRCh38]
Chr17:45380096 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.243G>A (p.Glu81=) single nucleotide variant not provided [RCV005190699] Chr17:47283431 [GRCh38]
Chr17:45360797 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2226A>C (p.Lys742Asn) single nucleotide variant not provided [RCV005148429] Chr17:47307562 [GRCh38]
Chr17:45384928 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1533A>T (p.Glu511Asp) single nucleotide variant not provided [RCV005188209] Chr17:47292411 [GRCh38]
Chr17:45369777 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.211C>T (p.Leu71=) single nucleotide variant not provided [RCV005185321] Chr17:47283399 [GRCh38]
Chr17:45360765 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.1994T>C (p.Ile665Thr) single nucleotide variant not provided [RCV005183619] Chr17:47300558 [GRCh38]
Chr17:45377924 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1025A>G (p.Asn342Ser) single nucleotide variant not provided [RCV005130872] Chr17:47289766 [GRCh38]
Chr17:45367132 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1943G>A (p.Arg648Gln) single nucleotide variant not provided [RCV005185105] Chr17:47300507 [GRCh38]
Chr17:45377873 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1261-9T>C single nucleotide variant not provided [RCV005181696] Chr17:47292130 [GRCh38]
Chr17:45369496 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.270A>G (p.Leu90=) single nucleotide variant not provided [RCV005202606] Chr17:47283458 [GRCh38]
Chr17:45360824 [GRCh37]
Chr17:17q21.32		 likely benign
NM_000212.3(ITGB3):c.2301A>G (p.Thr767=) single nucleotide variant not provided [RCV005202868] Chr17:47307637 [GRCh38]
Chr17:45385003 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.53_61dup (p.Leu20_Ala21insGlyAlaLeu) duplication not provided [RCV005202903] Chr17:47253905..47253906 [GRCh38]
Chr17:45331271..45331272 [GRCh37]
Chr17:17q21.32		 uncertain significance
NM_000212.3(ITGB3):c.1393G>C (p.Ala465Pro) single nucleotide variant not provided [RCV005200619] Chr17:47292271 [GRCh38]
Chr17:45369637 [GRCh37]
Chr17:17q21.32		 uncertain significance
miRNA Target Status (No longer updated)

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR98hsa-miR-98-5pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
MIRLET7A2hsa-let-7a-5pOncomiRDBexternal_infoNANA18679415
MIRLET7A2hsa-let-7a-5pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI18679415
MIRLET7A1hsa-let-7a-5pOncomiRDBexternal_infoNANA18679415
MIRLET7A1hsa-let-7a-5pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI18679415

Predicted Target Of
Summary Value
Count of predictions:1347
Count of miRNA genes:761
Interacting mature miRNAs:865
Transcripts:ENST00000435993, ENST00000559488, ENST00000571680, ENST00000573377
Prediction methods:Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597492573GWAS1588647_Hlow density lipoprotein cholesterol measurement QTL GWAS1588647 (human)0.0000006low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)174729742947297430Human
597505181GWAS1601255_Hlow density lipoprotein cholesterol measurement QTL GWAS1601255 (human)2e-08low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)174730764647307647Human
597593247GWAS1650107_Hplatelet count QTL GWAS1650107 (human)9e-23platelet quantity (VT:0003179)platelet count (CMO:0000029)174728463847284639Human
597491037GWAS1587111_Hbody surface area QTL GWAS1587111 (human)7e-09body surface area174729762847297629Human
597431897GWAS1527971_Hlow density lipoprotein cholesterol measurement QTL GWAS1527971 (human)2e-08low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)174729423747294238Human
597613144GWAS1670004_Hplatelet count QTL GWAS1670004 (human)8e-20platelet quantity (VT:0003179)platelet count (CMO:0000029)174728463847284639Human
597434202GWAS1530276_Hdiverticular disease QTL GWAS1530276 (human)0.000002diverticular disease174728778747287788Human
597396253GWAS1492327_HBMI-adjusted hip circumference QTL GWAS1492327 (human)1e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)174729742947297430Human
597593045GWAS1649905_Hplatelet count QTL GWAS1649905 (human)8e-24platelet quantity (VT:0003179)platelet count (CMO:0000029)174728463847284639Human
597055192GWAS1151266_Heosinophil count QTL GWAS1151266 (human)1e-10eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)174727492847274929Human
597434259GWAS1530333_Hhypothyroidism QTL GWAS1530333 (human)4e-10hypothyroidism174729647847296479Human
597445960GWAS1542034_Hsex hormone-binding globulin measurement QTL GWAS1542034 (human)2e-10sex hormone-binding globulin measurement174728012347280124Human
597382657GWAS1478731_Hplatelet count QTL GWAS1478731 (human)4e-15platelet quantity (VT:0003179)platelet count (CMO:0000029)174728458747284588Human
597592003GWAS1648863_Hplatelet count QTL GWAS1648863 (human)2e-16platelet quantity (VT:0003179)platelet count (CMO:0000029)174728463847284639Human
597615105GWAS1671965_Hplatelet count QTL GWAS1671965 (human)2e-14platelet quantity (VT:0003179)platelet count (CMO:0000029)174728463847284639Human
597361912GWAS1457986_Hleft ventricular structural measurement QTL GWAS1457986 (human)0.0000005heart left ventricle morphology trait (VT:0003921)heart left ventricle morphological measurement (CMO:0000951)174729031547290316Human
597454266GWAS1550340_Hbone fracture QTL GWAS1550340 (human)0.0000001bone fracture174729898047298981Human
596976818GWAS1096337_Hbody height QTL GWAS1096337 (human)9e-21body height174729762847297629Human
407125997GWAS774973_Hserum IgG glycosylation measurement QTL GWAS774973 (human)0.0000004serum IgG glycosylation measurement174727375247273753Human
597617207GWAS1674067_Hplatelet count QTL GWAS1674067 (human)5e-20platelet quantity (VT:0003179)platelet count (CMO:0000029)174728463847284639Human
597485687GWAS1581761_Hsphingomyelin measurement QTL GWAS1581761 (human)2e-10sphingomyelin measurement174730764647307647Human
597491825GWAS1587899_Hlow density lipoprotein cholesterol measurement QTL GWAS1587899 (human)2e-14low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)174729742947297430Human
597142712GWAS1238786_Htotal cholesterol measurement QTL GWAS1238786 (human)5e-08total cholesterol measurementblood total cholesterol level (CMO:0000051)174726006947260070Human
597359912GWAS1455986_Hopen-angle glaucoma QTL GWAS1455986 (human)0.000005open-angle glaucoma174730764647307647Human
597458537GWAS1554611_HCrohn's disease QTL GWAS1554611 (human)2e-08intestine integrity trait (VT:0010554)174728098447280985Human
596975597GWAS1095116_HCrohn's disease QTL GWAS1095116 (human)2e-08Crohn's disease174728098447280985Human
407272189GWAS921165_Heosinophil percentage of leukocytes QTL GWAS921165 (human)4e-10eosinophil quantity (VT:0002602)blood eosinophil count to total leukocyte count ratio (CMO:0000369)174727492847274929Human
407259065GWAS908041_Hinflammatory bowel disease QTL GWAS908041 (human)2e-08inflammatory bowel disease174728098447280985Human

Markers in Region
STS-M35999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,389,284 - 45,389,436UniSTSGRCh37
Build 361742,744,283 - 42,744,435RGDNCBI36
Celera1741,839,399 - 41,839,551RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,767,374 - 40,767,526UniSTS
GeneMap99-GB4 RH Map17333.1UniSTS
NCBI RH Map17596.6UniSTS
D17S1991  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,388,031 - 45,388,355UniSTSGRCh37
Build 361742,743,030 - 42,743,354RGDNCBI36
Celera1741,838,146 - 41,838,470RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,766,121 - 40,766,445UniSTS
GeneMap99-G3 RH Map172553.0UniSTS
GDB:187323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,365,537 - 45,365,712UniSTSGRCh37
Build 361742,720,536 - 42,720,711RGDNCBI36
Celera1741,815,604 - 41,815,779RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,743,617 - 40,743,792UniSTS
SHGC-144857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,356,691 - 45,357,023UniSTSGRCh37
Build 361742,711,690 - 42,712,022RGDNCBI36
Celera1741,806,758 - 41,807,090RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,734,771 - 40,735,103UniSTS
TNG Radiation Hybrid Map1721885.0UniSTS
STS-S70348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,368,636 - 45,368,779UniSTSGRCh37
Build 361742,723,635 - 42,723,778RGDNCBI36
Celera1741,818,703 - 41,818,846RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,746,720 - 40,746,863UniSTS
GeneMap99-GB4 RH Map17337.7UniSTS
STS-R30939  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,388,667 - 45,388,793UniSTSGRCh37
Build 361742,743,666 - 42,743,792RGDNCBI36
Celera1741,838,782 - 41,838,908RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,766,757 - 40,766,883UniSTS
GeneMap99-GB4 RH Map17332.8UniSTS
NCBI RH Map17599.7UniSTS
STS-AA037229  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,368,627 - 45,368,828UniSTSGRCh37
Build 361742,723,626 - 42,723,827RGDNCBI36
Celera1741,818,694 - 41,818,895RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,746,711 - 40,746,912UniSTS
GeneMap99-GB4 RH Map17332.5UniSTS
RH47114  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,389,001 - 45,389,116UniSTSGRCh37
Build 361742,744,000 - 42,744,115RGDNCBI36
Celera1741,839,116 - 41,839,231RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,767,091 - 40,767,206UniSTS
GeneMap99-GB4 RH Map17333.2UniSTS
NCBI RH Map17589.6UniSTS
G10641  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,388,728 - 45,388,946UniSTSGRCh37
Build 361742,743,727 - 42,743,945RGDNCBI36
Celera1741,838,843 - 41,839,061RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,766,818 - 40,767,036UniSTS
SHGC-35279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,385,043 - 45,385,243UniSTSGRCh37
Build 361742,740,042 - 42,740,242RGDNCBI36
Celera1741,835,112 - 41,835,312RGD
Cytogenetic Map17q21.32UniSTS
HuRef1740,763,133 - 40,763,333UniSTS
GeneMap99-GB4 RH Map17330.8UniSTS
Whitehead-RH Map17361.0UniSTS
NCBI RH Map17593.6UniSTS
GeneMap99-G3 RH Map172553.0UniSTS
D16S325  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q13.32UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map2p13-p12UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map8q21.13UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map1p36.3-p34.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19q13.4UniSTS
D17S660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,331,801 - 45,331,889UniSTSGRCh37
Celera1741,781,869 - 41,781,957UniSTS
Cytogenetic Map17q21.32UniSTS
HuRef1740,709,880 - 40,709,968UniSTS
Itgb3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,367,061 - 45,368,458UniSTSGRCh37
GRCh371745,367,615 - 45,368,356UniSTSGRCh37
Celera1741,817,128 - 41,818,525UniSTS
Celera1741,817,682 - 41,818,423UniSTS
HuRef1740,745,695 - 40,746,440UniSTS
HuRef1740,745,141 - 40,746,542UniSTS
Itgb3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371745,367,061 - 45,368,458UniSTSGRCh37
GRCh371745,367,615 - 45,368,356UniSTSGRCh37
Celera1741,817,128 - 41,818,525UniSTS
Celera1741,817,682 - 41,818,423UniSTS
HuRef1740,745,695 - 40,746,440UniSTS
HuRef1740,745,141 - 40,746,542UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2365 2788 2239 4903 1716 2301 3 618 1871 459 2236 7150 6380 47 3697 845 1714 1571 169

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC068234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY706100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY826979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127667 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE389074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE893993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG170864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ437000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ454156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU015082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ202730 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ202731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ202732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ202733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ202734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ202735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ288893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ288894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J02703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC120777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC120778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC155823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC155824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC255388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ189224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L28832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  LR596612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M20311 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M25108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M35999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN624129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM135487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM135488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM135489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM135490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM135491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM135492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM201329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S49379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S70348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U03881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U95204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000559488   ⟹   ENSP00000452786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1747,253,827 - 47,313,743 (+)Ensembl
Ensembl Acc Id: ENST00000571680   ⟹   ENSP00000461626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1747,253,853 - 47,291,487 (+)Ensembl
Ensembl Acc Id: ENST00000573377   ⟹   ENSP00000465586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1747,291,053 - 47,292,171 (+)Ensembl
Ensembl Acc Id: ENST00000696963   ⟹   ENSP00000513002
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1747,253,827 - 47,308,126 (+)Ensembl
RefSeq Acc Id: NM_000212   ⟹   NP_000203
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,253,827 - 47,313,743 (+)NCBI
GRCh371745,331,208 - 45,390,077 (+)ENTREZGENE
Build 361742,686,207 - 42,745,076 (+)NCBI Archive
HuRef1740,709,287 - 40,768,167 (+)ENTREZGENE
CHM1_11745,396,156 - 45,455,032 (+)NCBI
T2T-CHM13v2.01748,116,181 - 48,176,126 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000203 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA16076 (Get FASTA)   NCBI Sequence Viewer  
  AAA20880 (Get FASTA)   NCBI Sequence Viewer  
  AAA35927 (Get FASTA)   NCBI Sequence Viewer  
  AAA36121 (Get FASTA)   NCBI Sequence Viewer  
  AAA52589 (Get FASTA)   NCBI Sequence Viewer  
  AAA52600 (Get FASTA)   NCBI Sequence Viewer  
  AAA60122 (Get FASTA)   NCBI Sequence Viewer  
  AAB23689 (Get FASTA)   NCBI Sequence Viewer  
  AAB30847 (Get FASTA)   NCBI Sequence Viewer  
  AAB71380 (Get FASTA)   NCBI Sequence Viewer  
  AAI27667 (Get FASTA)   NCBI Sequence Viewer  
  AAI27668 (Get FASTA)   NCBI Sequence Viewer  
  AAV29938 (Get FASTA)   NCBI Sequence Viewer  
  AAX33645 (Get FASTA)   NCBI Sequence Viewer  
  ABE67092 (Get FASTA)   NCBI Sequence Viewer  
  ABS86940 (Get FASTA)   NCBI Sequence Viewer  
  ADZ28534 (Get FASTA)   NCBI Sequence Viewer  
  ADZ28535 (Get FASTA)   NCBI Sequence Viewer  
  ADZ28536 (Get FASTA)   NCBI Sequence Viewer  
  ADZ28537 (Get FASTA)   NCBI Sequence Viewer  
  ADZ28538 (Get FASTA)   NCBI Sequence Viewer  
  ADZ28539 (Get FASTA)   NCBI Sequence Viewer  
  ADZ76019 (Get FASTA)   NCBI Sequence Viewer  
  ADZ76020 (Get FASTA)   NCBI Sequence Viewer  
  AGC54783 (Get FASTA)   NCBI Sequence Viewer  
  AGC54784 (Get FASTA)   NCBI Sequence Viewer  
  AGC82918 (Get FASTA)   NCBI Sequence Viewer  
  AGC82919 (Get FASTA)   NCBI Sequence Viewer  
  AGG40669 (Get FASTA)   NCBI Sequence Viewer  
  AHV90406 (Get FASTA)   NCBI Sequence Viewer  
  EAW57679 (Get FASTA)   NCBI Sequence Viewer  
  EAW57680 (Get FASTA)   NCBI Sequence Viewer  
  EAW57681 (Get FASTA)   NCBI Sequence Viewer  
  EAW57682 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000452786
  ENSP00000452786.2
  ENSP00000513002.1
GenBank Protein P05106 (Get FASTA)   NCBI Sequence Viewer  
  QHD40503 (Get FASTA)   NCBI Sequence Viewer  
  UZP80215 (Get FASTA)   NCBI Sequence Viewer  
  UZP80216 (Get FASTA)   NCBI Sequence Viewer  
  UZP80217 (Get FASTA)   NCBI Sequence Viewer  
  UZP80218 (Get FASTA)   NCBI Sequence Viewer  
  UZP80219 (Get FASTA)   NCBI Sequence Viewer  
  VUE35968 (Get FASTA)   NCBI Sequence Viewer  
  WAA20420 (Get FASTA)   NCBI Sequence Viewer  
  WAA20421 (Get FASTA)   NCBI Sequence Viewer  
  WAA20422 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000203   ⟸   NM_000212
- Peptide Label: precursor
- UniProtKB: Q14648 (UniProtKB/Swiss-Prot),   Q13413 (UniProtKB/Swiss-Prot),   Q12806 (UniProtKB/Swiss-Prot),   O15495 (UniProtKB/Swiss-Prot),   D3DXJ8 (UniProtKB/Swiss-Prot),   A0PJW2 (UniProtKB/Swiss-Prot),   Q16499 (UniProtKB/Swiss-Prot),   P05106 (UniProtKB/Swiss-Prot),   A0A5E4DMZ9 (UniProtKB/TrEMBL),   L7UUZ7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000452786   ⟸   ENST00000559488
Ensembl Acc Id: ENSP00000461626   ⟸   ENST00000571680
Ensembl Acc Id: ENSP00000465586   ⟸   ENST00000573377
Ensembl Acc Id: ENSP00000513002   ⟸   ENST00000696963
Protein Domains
EGF-like   I-EGF   Integrin beta epidermal growth factor-like   Integrin beta subunit cytoplasmic   Integrin beta subunit tail   Integrin beta subunit VWA   PSI   VWFA

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P05106-F1-model_v2 AlphaFold P05106 1-788 view protein structure

Promoters
RGD ID:6794229
Promoter ID:HG_KWN:26444
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_000212,   UC002ILI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361742,686,061 - 42,686,561 (+)MPROMDB
RGD ID:7235395
Promoter ID:EPDNEW_H23443
Type:initiation region
Name:ITGB3_1
Description:integrin subunit beta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23444  EPDNEW_H23445  EPDNEW_H23446  EPDNEW_H23447  EPDNEW_H23448  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,253,827 - 47,253,887EPDNEW
RGD ID:7235397
Promoter ID:EPDNEW_H23444
Type:initiation region
Name:ITGB3_4
Description:integrin subunit beta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23443  EPDNEW_H23445  EPDNEW_H23446  EPDNEW_H23447  EPDNEW_H23448  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,274,440 - 47,274,500EPDNEW
RGD ID:7235399
Promoter ID:EPDNEW_H23445
Type:multiple initiation site
Name:ITGB3_6
Description:integrin subunit beta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23443  EPDNEW_H23444  EPDNEW_H23446  EPDNEW_H23447  EPDNEW_H23448  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,287,035 - 47,287,095EPDNEW
RGD ID:7235401
Promoter ID:EPDNEW_H23446
Type:initiation region
Name:ITGB3_2
Description:integrin subunit beta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23443  EPDNEW_H23444  EPDNEW_H23445  EPDNEW_H23447  EPDNEW_H23448  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,299,266 - 47,299,326EPDNEW
RGD ID:7235403
Promoter ID:EPDNEW_H23447
Type:multiple initiation site
Name:ITGB3_3
Description:integrin subunit beta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23443  EPDNEW_H23444  EPDNEW_H23445  EPDNEW_H23446  EPDNEW_H23448  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,301,414 - 47,301,474EPDNEW
RGD ID:7235405
Promoter ID:EPDNEW_H23448
Type:initiation region
Name:ITGB3_5
Description:integrin subunit beta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23443  EPDNEW_H23444  EPDNEW_H23445  EPDNEW_H23446  EPDNEW_H23447  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381747,311,341 - 47,311,401EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6156 AgrOrtholog
COSMIC ITGB3 COSMIC
Ensembl Genes ENSG00000259207 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000559488 ENTREZGENE
  ENST00000559488.7 UniProtKB/Swiss-Prot
  ENST00000696963.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.410 UniProtKB/Swiss-Prot
  4.10.1240.30 UniProtKB/Swiss-Prot
  Cytochrome c1, transmembrane anchor, C-terminal UniProtKB/Swiss-Prot
  Laminin UniProtKB/Swiss-Prot
  ligand-binding face of the semaphorins, domain 2 UniProtKB/Swiss-Prot
  ntegrin, alpha v. Chain A, domain 3 UniProtKB/Swiss-Prot
GTEx ENSG00000259207 GTEx
HGNC ID HGNC:6156 ENTREZGENE
Human Proteome Map ITGB3 Human Proteome Map
InterPro EGF_extracell UniProtKB/Swiss-Prot
  I-EGF_1 UniProtKB/Swiss-Prot
  Integrin_beta_N UniProtKB/Swiss-Prot
  Integrin_bsu UniProtKB/Swiss-Prot
  Integrin_bsu_cyt_dom UniProtKB/Swiss-Prot
  Integrin_bsu_tail UniProtKB/Swiss-Prot
  Integrin_bsu_tail_dom_sf UniProtKB/Swiss-Prot
  Integrin_bsu_VWA UniProtKB/Swiss-Prot
  Integrin_dom_sf UniProtKB/Swiss-Prot
  PSI UniProtKB/Swiss-Prot
  vWFA_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:3690 UniProtKB/Swiss-Prot
NCBI Gene 3690 ENTREZGENE
OMIM 173470 OMIM
PANTHER PTHR10082 UniProtKB/Swiss-Prot
  PTHR10082:SF25 UniProtKB/Swiss-Prot
Pfam EGF_2 UniProtKB/Swiss-Prot
  I-EGF_1 UniProtKB/Swiss-Prot
  Integrin_b_cyt UniProtKB/Swiss-Prot
  Integrin_B_tail UniProtKB/Swiss-Prot
  Integrin_beta UniProtKB/Swiss-Prot
  PSI_integrin UniProtKB/Swiss-Prot
PharmGKB ITGB3 RGD, PharmGKB
PIRSF Integrin_B UniProtKB/Swiss-Prot
PRINTS INTEGRINB UniProtKB/Swiss-Prot
PROSITE EGF_1 UniProtKB/Swiss-Prot
  EGF_2 UniProtKB/Swiss-Prot
  I_EGF_2 UniProtKB/Swiss-Prot
  INTEGRIN_BETA UniProtKB/Swiss-Prot
SMART INB UniProtKB/Swiss-Prot
  Integrin_b_cyt UniProtKB/Swiss-Prot
  Integrin_B_tail UniProtKB/Swiss-Prot
  PSI UniProtKB/Swiss-Prot
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot
  Plexin repeat UniProtKB/Swiss-Prot
  SSF53300 UniProtKB/Swiss-Prot
  SSF69179 UniProtKB/Swiss-Prot
  SSF69687 UniProtKB/Swiss-Prot
UniProt A0A5E4DMZ9 ENTREZGENE, UniProtKB/TrEMBL
  A0A6B9NYH9_HUMAN UniProtKB/TrEMBL
  A0PJW2 ENTREZGENE
  A7U833_HUMAN UniProtKB/TrEMBL
  D3DXJ8 ENTREZGENE
  F1C630_HUMAN UniProtKB/TrEMBL
  F1C632_HUMAN UniProtKB/TrEMBL
  F1C633_HUMAN UniProtKB/TrEMBL
  F1C634_HUMAN UniProtKB/TrEMBL
  F2X0U9_HUMAN UniProtKB/TrEMBL
  F2X0V0_HUMAN UniProtKB/TrEMBL
  I3L4X8_HUMAN UniProtKB/TrEMBL
  ITB3_HUMAN UniProtKB/Swiss-Prot
  L7UUZ7 ENTREZGENE, UniProtKB/TrEMBL
  L7UW06_HUMAN UniProtKB/TrEMBL
  L7WKL1_HUMAN UniProtKB/TrEMBL
  O15495 ENTREZGENE
  P05106 ENTREZGENE
  Q12806 ENTREZGENE
  Q13413 ENTREZGENE
  Q14648 ENTREZGENE
  Q16157_HUMAN UniProtKB/TrEMBL
  Q16499 ENTREZGENE
  Q1PBM2_HUMAN UniProtKB/TrEMBL
UniProt Secondary A0PJW2 UniProtKB/Swiss-Prot
  D3DXJ8 UniProtKB/Swiss-Prot
  O15495 UniProtKB/Swiss-Prot
  Q12806 UniProtKB/Swiss-Prot
  Q13413 UniProtKB/Swiss-Prot
  Q14648 UniProtKB/Swiss-Prot
  Q16499 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 ITGB3  integrin subunit beta 3  ITGB3  integrin beta 3  Symbol and/or name change 5135510 APPROVED
2015-12-08 ITGB3  integrin beta 3  ITGB3  integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)  Symbol and/or name change 5135510 APPROVED