ENG (endoglin) - Rat Genome Database

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Gene: ENG (endoglin) Homo sapiens
Analyze
Symbol: ENG
Name: endoglin
RGD ID: 1351093
HGNC Page HGNC:3349
Description: Enables several functions, including coreceptor activity; galactose binding activity; and transforming growth factor beta receptor binding activity. Contributes to BMP binding activity and transforming growth factor beta binding activity. Involved in several processes, including central nervous system vasculogenesis; regulation of transcription by RNA polymerase II; and regulation of transmembrane receptor protein serine/threonine kinase signaling pathway. Located in external side of plasma membrane; extracellular space; and nuclear body. Part of receptor complex. Implicated in arteriovenous malformation; arteriovenous malformations of the brain; breast cancer; hereditary hemorrhagic telangiectasia; and intracranial aneurysm. Biomarker of several diseases, including artery disease (multiple); clear cell renal cell carcinoma; diabetic retinopathy; hematologic cancer (multiple); and secondary hyperparathyroidism.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CD105; CD105 antigen; END; FLJ41744; HHT1; ORW; ORW1; soluble endoglin
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389127,815,016 - 127,854,658 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9127,815,013 - 127,854,658 (-)EnsemblGRCh38hg38GRCh38
GRCh379130,577,291 - 130,617,052 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,617,115 - 129,656,805 (-)NCBINCBI36Build 36hg18NCBI36
Build 349127,656,849 - 127,696,538NCBI
Celera9101,228,133 - 101,267,888 (-)NCBICelera
Cytogenetic Map9q34.11NCBI
HuRef9100,194,111 - 100,234,515 (-)NCBIHuRef
CHM1_19130,728,823 - 130,768,983 (-)NCBICHM1_1
T2T-CHM13v2.09140,022,435 - 140,062,072 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute lymphoblastic leukemia  (IEP)
arteriovenous malformation  (IAGP,ISO)
arteriovenous malformations of the brain  (IAGP,ISO,ISS)
breast cancer  (IMP)
Breast Neoplasms  (ISO)
Chemical and Drug Induced Liver Injury  (ISO)
cholestasis  (ISO)
clear cell renal cell carcinoma  (IEP)
congenital disorder of glycosylation Iu  (IAGP)
congestive heart failure  (ISO)
coronary artery disease  (IEP)
cystic fibrosis  (EXP)
developmental and epileptic encephalopathy  (IAGP)
developmental and epileptic encephalopathy 31A  (IAGP)
Diabetic Nephropathies  (IEP)
diabetic retinopathy  (IEP)
early infantile epileptic encephalopathy  (IAGP)
Epistaxis  (IAGP,ISO)
Experimental Radiation Injuries  (ISO)
Galloway-Mowat syndrome 1  (IAGP)
genetic disease  (IAGP)
hepatocellular carcinoma  (ISO)
hereditary hemorrhagic telangiectasia  (EXP,IAGP,IDA,ISO,ISS)
Hereditary Hemorrhagic Telangiectasia, Type 1  (IAGP,IDA)
Hereditary Hemorrhagic Telangiectasia, Type 2  (IAGP)
Hypercholesterolemia  (ISO)
hypertension  (ISO)
interstitial lung disease  (IAGP)
intracranial aneurysm  (IAGP)
juvenile polyposis syndrome  (IAGP)
Kidney Reperfusion Injury  (ISO)
lymphoid leukemia  (IEP)
melanoma  (ISO)
middle cerebral artery infarction  (ISO)
Moyamoya Disease 2  (IAGP)
multiple myeloma  (IEP)
pre-eclampsia  (IEP,ISO)
Pregnancy in Diabetics  (IEP)
primary coenzyme Q10 deficiency 7  (IAGP)
Primary Pulmonary Hypertension, 1  (IAGP)
prostate cancer  (IEP)
Pulmonary Arterial Hypertension  (IAGP)
Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related  (IAGP)
pulmonary hypertension  (ISO)
renal fibrosis  (ISO)
Right Ventricular Hypertrophy  (ISO)
secondary hyperparathyroidism  (IEP)
Stress Fractures  (ISO)
systemic lupus erythematosus  (IAGP)
Wounds and Injuries  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
amphetamine  (ISO)
antirheumatic drug  (EXP)
arsenous acid  (EXP)
benzene-1,2,4-triol  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bleomycin A2  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
candesartan  (ISO)
cannabidiol  (ISO)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
chromium(3+) trichloride  (ISO)
clofibric acid  (ISO)
clotrimazole  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
daunorubicin  (ISO)
deoxynivalenol  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dioxygen  (EXP)
dopamine  (ISO)
doxorubicin  (EXP,ISO)
elemental selenium  (EXP)
enalapril  (ISO)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fenoldopam  (ISO)
fenthion  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
harmaline  (ISO)
iohexol  (EXP)
iopamidol  (EXP)
lipopolysaccharide  (EXP)
losartan  (EXP,ISO)
manganese(II) chloride  (ISO)
methapyrilene  (EXP)
methidathion  (ISO)
methimazole  (ISO)
mifepristone  (ISO)
N(gamma)-nitro-L-arginine methyl ester  (ISO)
N-acetyl-L-cysteine  (EXP)
N-nitrosodiethylamine  (ISO)
niclosamide  (EXP)
nicotine  (ISO)
nitrofen  (ISO)
oxaliplatin  (ISO)
ozone  (EXP,ISO)
paracetamol  (ISO)
paricalcitol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
progesterone  (ISO)
propiconazole  (ISO)
raloxifene  (EXP)
retinyl acetate  (ISO)
rotenone  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
Salinomycin  (EXP)
selenium atom  (EXP)
senecionine  (ISO)
serpentine asbestos  (ISO)
sodium dichromate  (EXP)
sulfadimethoxine  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
Tesaglitazar  (ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (ISO)
triclosan  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
valsartan  (ISO)
vinclozolin  (ISO)
Y-27632  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis  (IEA,ISO)
artery morphogenesis  (IEA,ISS)
atrial cardiac muscle tissue morphogenesis  (IEA,ISS)
atrioventricular canal morphogenesis  (IEA,ISS)
BMP signaling pathway  (TAS)
bone development  (IEA,ISO)
branching involved in blood vessel morphogenesis  (IEA,ISS)
cardiac atrium morphogenesis  (IEA,ISS)
cardiac jelly development  (ISO)
cardiac ventricle morphogenesis  (IEA,ISS)
cell adhesion  (IEA)
cell chemotaxis  (IMP)
cell migration  (IBA,IEA,IMP)
cell migration involved in endocardial cushion formation  (IEA,ISO)
cell motility  (IMP)
cellular response to mechanical stimulus  (IEA,ISO)
central nervous system vasculogenesis  (IMP)
detection of hypoxia  (IDA)
dorsal aorta morphogenesis  (IEA,ISS)
endocardial cushion morphogenesis  (IEA,ISS)
endocardial cushion to mesenchymal transition  (ISS)
epithelial to mesenchymal transition  (IBA,IEA)
epithelial to mesenchymal transition involved in endocardial cushion formation  (IEA,ISS)
extracellular matrix constituent secretion  (IEA,ISO)
extracellular matrix disassembly  (IMP)
heart development  (IEA,ISO)
heart looping  (IEA,ISS)
negative regulation of cell migration  (IDA)
negative regulation of endothelial cell proliferation  (IMP)
negative regulation of gene expression  (IEA,ISS)
negative regulation of transcription by RNA polymerase II  (IDA)
negative regulation of transforming growth factor beta receptor signaling pathway  (TAS)
outflow tract septum morphogenesis  (IEA,ISS)
positive regulation of angiogenesis  (IEA,ISO)
positive regulation of BMP signaling pathway  (IDA)
positive regulation of collagen biosynthetic process  (IEA,ISO)
positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation  (IEA,ISS)
positive regulation of gene expression  (IEA,ISO)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IGI)
positive regulation of protein phosphorylation  (IEA,ISO)
positive regulation of SMAD protein signal transduction  (IDA)
positive regulation of systemic arterial blood pressure  (IMP)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,ISS)
positive regulation of vascular associated smooth muscle cell differentiation  (IEA,ISS)
regulation of cardiac muscle cell apoptotic process  (ISS)
regulation of cardiac neural crest cell migration involved in outflow tract morphogenesis  (ISS)
regulation of cell adhesion  (TAS)
regulation of cell population proliferation  (TAS)
regulation of cell proliferation involved in heart morphogenesis  (ISS)
regulation of DNA-templated transcription  (IMP)
regulation of phosphorylation  (TAS)
regulation of transforming growth factor beta receptor signaling pathway  (IBA,IDA,IEA,ISO)
response to hypoxia  (IDA)
response to transforming growth factor beta  (IEA,ISO)
response to xenobiotic stimulus  (IEA,ISO)
smooth muscle tissue development  (IEA,ISS)
sprouting angiogenesis  (ISS)
transforming growth factor beta receptor signaling pathway  (IBA,IDA,IEA)
vascular associated smooth muscle cell development  (IEA,ISS)
vasculogenesis  (IBA,IEA,IMP,ISO)
venous blood vessel morphogenesis  (IEA,ISS)
ventricular trabecula myocardium morphogenesis  (IEA,ISS)
wound healing  (IMP)

Cellular Component

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

Human Phenotype
Abnormal bleeding  (IAGP)
Abnormal brainstem morphology  (IAGP)
Abnormal cardiovascular system physiology  (IAGP)
Abnormal cerebral vascular morphology  (IAGP)
Abnormal circle of Willis morphology  (IAGP)
Adenomatous colonic polyposis  (IAGP)
Amblyopia  (IAGP)
Anemia  (IAGP)
Anemic pallor  (IAGP)
Aortic dissection  (IAGP)
Aortic root aneurysm  (IAGP)
Arteriovenous fistulas of celiac and mesenteric vessels  (IAGP)
Arteriovenous malformation  (IAGP)
Atherosclerosis  (IAGP)
Autosomal dominant inheritance  (IAGP)
Brain abscess  (IAGP)
Cavernous hemangioma  (IAGP)
Cerebral arteriovenous malformation  (IAGP)
Cerebral berry aneurysm  (IAGP)
Cerebral hemorrhage  (IAGP)
Chest pain  (IAGP)
Cholecystitis  (IAGP)
Cholelithiasis  (IAGP)
Cirrhosis  (IAGP)
Clubbing  (IAGP)
Congestive heart failure  (IAGP)
Conjunctival telangiectasia  (IAGP)
Cyanosis  (IAGP)
Dilatation of celiac artery  (IAGP)
Dilatation of mesenteric artery  (IAGP)
Duodenal polyposis  (IAGP)
Dyspnea  (IAGP)
Edema  (IAGP)
Encephalomalacia  (IAGP)
Epistaxis  (IAGP)
Esophageal varix  (IAGP)
Exacerbated by pregnancy  (IAGP)
Exertional dyspnea  (IAGP)
Fingerpad telangiectases  (IAGP)
Gastrointestinal angiodysplasia  (IAGP)
Gastrointestinal arteriovenous malformation  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Gastrointestinal telangiectasia  (IAGP)
Growth delay  (IAGP)
Hematemesis  (IAGP)
Hematochezia  (IAGP)
Hematuria  (IAGP)
Hemiparesis  (IAGP)
Hemoptysis  (IAGP)
Hemothorax  (IAGP)
Hepatic arteriovenous malformation  (IAGP)
Hepatic failure  (IAGP)
High-output congestive heart failure  (IAGP)
Hypertension  (IAGP)
Hypoxemia  (IAGP)
Intermediate young adult onset  (IAGP)
Interstitial pneumonitis  (IAGP)
Intestinal polyposis  (IAGP)
Intracranial hemorrhage  (IAGP)
Ischemic stroke  (IAGP)
Lip telangiectasia  (IAGP)
Melena  (IAGP)
Migraine  (IAGP)
Miscarriage  (IAGP)
Mucosal telangiectasiae  (IAGP)
Multiple gastric polyps  (IAGP)
Nail bed telangiectasia  (IAGP)
Nasal mucosa telangiectasia  (IAGP)
Nephrolithiasis  (IAGP)
Oculomotor nerve palsy  (IAGP)
Oral cavity telangiectasia  (IAGP)
Palate telangiectasia  (IAGP)
Peripheral arteriovenous fistula  (IAGP)
Polycythemia  (IAGP)
Portal hypertension  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary arteriovenous malformation  (IAGP)
Pulmonary embolism  (IAGP)
Pulmonary hemorrhage  (IAGP)
Rectal polyposis  (IAGP)
Reduced FEV1/FVC ratio  (IAGP)
Restrictive ventilatory defect  (IAGP)
Retinal telangiectasia  (IAGP)
Right-to-left shunt  (IAGP)
Seizure  (IAGP)
Small intestinal polyposis  (IAGP)
Spinal arteriovenous malformation  (IAGP)
Spontaneous hematomas  (IAGP)
Spontaneous, recurrent epistaxis  (IAGP)
Subarachnoid hemorrhage  (IAGP)
Systemic lupus erythematosus  (IAGP)
Telangiectasia  (IAGP)
Telangiectasia of the skin  (IAGP)
Tongue telangiectasia  (IAGP)
Transient ischemic attack  (IAGP)
Venous thrombosis  (IAGP)
Venous varicosities of celiac and mesenteric vessels  (IAGP)
Visceral angiomatosis  (IAGP)
Visual field defect  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Cellular basis of diabetic nephropathy: V. Endoglin expression levels and diabetic nephropathy risk in patients with Type 1 diabetes. Alvarez-Munoz P, etal., J Diabetes Complications. 2009 Apr 21.
2. Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin? Berg JN, etal., J Med Genet. 1996 Mar;33(3):256-7.
3. Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype. Bossler AD, etal., Hum Mutat. 2006 Jul;27(7):667-75.
4. A murine model of hereditary hemorrhagic telangiectasia. Bourdeau A, etal., J Clin Invest. 1999 Nov;104(10):1343-51.
5. Gene expression profiles that segregate patients with childhood acute lymphoblastic leukaemia: an independent validation study identifies that endoglin associates with patient outcome. Catchpoole D, etal., Leuk Res. 2007 Dec;31(12):1741-7. Epub 2007 Jun 18.
6. Novel brain arteriovenous malformation mouse models for type 1 hereditary hemorrhagic telangiectasia. Choi EJ, etal., PLoS One. 2014 Feb 10;9(2):e88511. doi: 10.1371/journal.pone.0088511. eCollection 2014.
7. Endoglin regulates renal ischaemia-reperfusion injury. Docherty NG, etal., Nephrol Dial Transplant. 2006 Aug;21(8):2106-19. Epub 2006 Jun 4.
8. Preeclampsia-like symptoms induced in mice by fetoplacental expression of STOX1 are reversed by aspirin treatment. Doridot L, etal., Hypertension. 2013 Mar;61(3):662-8. doi: 10.1161/HYPERTENSIONAHA.111.202994. Epub 2013 Jan 28.
9. Assessment of the prognostic significance of endoglin (CD105) in clear cell renal cell carcinoma using automated image analysis. Dubinski W, etal., Hum Pathol. 2012 Jul;43(7):1037-43. doi: 10.1016/j.humpath.2011.08.012. Epub 2011 Dec 26.
10. Tumour epithelial expression levels of endocannabinoid markers modulate the value of endoglin-positive vascular density as a prognostic marker in prostate cancer. Fowler CJ, etal., Biochim Biophys Acta. 2012 Dec 20. pii: S1388-1981(12)00259-4. doi: 10.1016/j.bbalip.2012.12.005.
11. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
12. Long-term high salt diet causes hypertension and alters renal cytokine gene expression profiles in Sprague-Dawley rats. Gu JW, etal., Beijing Da Xue Xue Bao. 2009 Oct 18;41(5):505-15.
13. Plasma endoglin as a marker to predict cardiovascular events in patients with chronic coronary artery diseases. Ikemoto T, etal., Heart Vessels. 2012 Jul;27(4):344-51. doi: 10.1007/s00380-011-0163-z. Epub 2011 Jun 11.
14. Autoantibody-mediated angiotensin receptor activation contributes to preeclampsia through tumor necrosis factor-alpha signaling. Irani RA, etal., Hypertension. 2010 May;55(5):1246-53. doi: 10.1161/HYPERTENSIONAHA.110.150540. Epub 2010 Mar 29.
15. Magnesium sulfate therapy of preeclampsia: an old tool with new mechanism of action and prospect in management and prophylaxis. Korish AA Hypertens Res. 2012 Oct;35(10):1005-11. doi: 10.1038/hr.2012.103. Epub 2012 Jul 5.
16. Circulating angiogenic factors and urinary prolactin as predictors of adverse outcomes in women with preeclampsia. Leanos-Miranda A, etal., Hypertension. 2013 May;61(5):1118-25. doi: 10.1161/HYPERTENSIONAHA.111.00754. Epub 2013 Mar 4.
17. Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Lesca G, etal., Hum Mutat 2004 Apr;23(4):289-99.
18. Reduced endothelial secretion and plasma levels of transforming growth factor-beta1 in patients with hereditary hemorrhagic telangiectasia type 1. Letarte M, etal., Cardiovasc Res. 2005 Oct 1;68(1):155-64.
19. Elevated plasma CD105 and vitreous VEGF levels in diabetic retinopathy. Malik RA, etal., J Cell Mol Med. 2005 Jul-Sep;9(3):692-7.
20. Evaluation of parathyroid gland angiogenesis in chronic kidney disease associated with secondary hyperparathyroidism. Martins P, etal., Nephrol Dial Transplant. 2008 Sep;23(9):2889-94. doi: 10.1093/ndt/gfn150. Epub 2008 Apr 8.
21. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. McAllister KA, etal., Nat Genet. 1994 Dec;8(4):345-51.
22. Expression and functional analysis of endoglin in isolated liver cells and its involvement in fibrogenic Smad signalling. Meurer SK, etal., Cell Signal. 2011 Apr;23(4):683-99. doi: 10.1016/j.cellsig.2010.12.002. Epub 2010 Dec 10.
23. In vitro and in vivo effects of an anti-mouse endoglin (CD105)-immunotoxin on the early stages of mouse B16MEL4A5 melanoma tumours. Munoz R, etal., Cancer Immunol Immunother. 2013 Mar;62(3):541-51. doi: 10.1007/s00262-012-1357-7. Epub 2012 Oct 18.
24. Endothelial expression of endoglin in normocholesterolemic and hypercholesterolemic C57BL/6J mice before and after atorvastatin treatment. Nachtigal P, etal., Can J Physiol Pharmacol. 2007 Aug;85(8):767-73.
25. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
26. Endoglin is not a major susceptibility gene for intracranial aneurysm among Japanese. Onda H, etal., Stroke. 2003 Jul;34(7):1640-4. Epub 2003 May 29.
27. Emerging roles of endoglin/CD105 and angiogenic cytokines for disease development and progression in multiple myeloma patients. Pappa CA, etal., Hematol Oncol. 2013 Dec;31(4):201-5. doi: 10.1002/hon.2044. Epub 2013 Apr 11.
28. Polymorphisms in transforming growth factor-beta-related genes ALK1 and ENG are associated with sporadic brain arteriovenous malformations. Pawlikowska L, etal., Stroke. 2005 Oct;36(10):2278-80. Epub 2005 Sep 22.
29. Endoglin haploinsufficiency promotes fibroblast accumulation during wound healing through Akt activation. Pericacho M, etal., PLoS One. 2013;8(1):e54687. doi: 10.1371/journal.pone.0054687. Epub 2013 Jan 17.
30. A DNA sequence polymorphism in the endoglin gene is not associated with intracranial aneurysm or aneurysmal subarachnoid hemorrhage. Peters DG, etal., Cerebrovasc Dis. 2005;20(2):96-100. Epub 2005 Jun 21.
31. Significant expression of endoglin (CD105), TGFbeta-1 and TGFbeta R-2 in the atherosclerotic aorta: an immunohistological study. Piao M and Tokunaga O, J Atheroscler Thromb. 2006 Apr;13(2):82-9.
32. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
33. Temporal changes in renal endoglin and TGF-beta1 expression following ureteral obstruction in rats. Prieto M, etal., J Physiol Biochem. 2005 Sep;61(3):457-67.
34. Effect of the long-term treatment with trandolapril on endoglin expression in rats with experimental renal fibrosis induced by renal mass reduction. Prieto M, etal., Kidney Blood Press Res. 2005;28(1):32-40. Epub 2004 Oct 8.
35. Endothelial cell damage induces a blood-alveolus barrier breakdown in the development of radiation-induced lung injury. Qiu J, etal., Asia Pac J Clin Oncol. 2011 Dec;7(4):392-8. doi: 10.1111/j.1743-7563.2011.01461.x.
36. The effect of Kraussianone-2 (Kr2), a natural pyrano-isoflavone from Eriosema kraussianum, in an L-NAME- induced pre-eclamptic rat model. Ramesar SV, etal., Phytother Res. 2012 Sep;26(9):1375-80. doi: 10.1002/ptr.3697. Epub 2012 Feb 6.
37. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
38. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
39. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
40. Sequential extracellular matrix-focused and baited-global cluster analysis of serial transcriptomic profiles identifies candidate modulators of renal tubulointerstitial fibrosis in murine adriamycin-induced nephropathy. Sadlier DM, etal., J Biol Chem. 2004 Jul 9;279(28):29670-80. Epub 2004 Mar 18.
41. Endoglin (CD105) expression in human renal cell carcinoma. Sandlund J, etal., BJU Int. 2006 Apr;97(4):706-10.
42. Sequencing of TGF-beta pathway genes in familial cases of intracranial aneurysm. Santiago-Sim T, etal., Stroke. 2009 May;40(5):1604-11. doi: 10.1161/STROKEAHA.108.540245. Epub 2009 Mar 19.
43. Mutation analysis in Spanish patients with hereditary hemorrhagic telangiectasia: deficient endoglin up-regulation in activated monocytes. Sanz-Rodriguez F, etal., Clin Chem. 2004 Nov;50(11):2003-11. Epub 2004 Sep 16.
44. The TGF-beta co-receptor endoglin regulates macrophage infiltration and cytokine production in the irradiated mouse kidney. Scharpfenecker M, etal., Radiother Oncol. 2012 Dec;105(3):313-20. doi: 10.1016/j.radonc.2012.08.021. Epub 2012 Sep 27.
45. Endoglin deficiency impairs stroke recovery. Shen F, etal., Stroke. 2014 Jul;45(7):2101-6. doi: 10.1161/STROKEAHA.114.005115. Epub 2014 May 29.
46. Characterization of endoglin and identification of novel mutations in hereditary hemorrhagic telangiectasia. Shovlin CL, etal., Am J Hum Genet. 1997 Jul;61(1):68-79.
47. Mechanism of the inhibitory effect of atorvastatin on endoglin expression induced by transforming growth factor-beta1 in cultured cardiac fibroblasts. Shyu KG, etal., Eur J Heart Fail. 2010 Mar;12(3):219-26. doi: 10.1093/eurjhf/hfq011.
48. Antiangiogenic therapy of established tumors in human skin/severe combined immunodeficiency mouse chimeras by anti-endoglin (CD105) monoclonal antibodies, and synergy between anti-endoglin antibody and cyclophosphamide. Takahashi N, etal., Cancer Res. 2001 Nov 1;61(21):7846-54.
49. Polymorphism of the endoglin gene in patients with intracranial saccular aneurysms. Takenaka K, etal., J Neurosurg. 1999 May;90(5):935-8.
50. Angiogenesis is required for stress fracture healing in rats. Tomlinson RE, etal., Bone. 2013 Jan;52(1):212-9. doi: 10.1016/j.bone.2012.09.035. Epub 2012 Oct 5.
51. Spontaneous adult-onset pulmonary arterial hypertension attributable to increased endothelial oxidative stress in a murine model of hereditary hemorrhagic telangiectasia. Toporsian M, etal., Arterioscler Thromb Vasc Biol. 2010 Mar;30(3):509-17. doi: 10.1161/ATVBAHA.109.200121. Epub 2009 Dec 30.
52. Prognostic relevance of angiopoietin-2, fibroblast growth factor-2 and endoglin mRNA expressions in chronic lymphocytic leukemia. Vrbacky F, etal., Neoplasma. 2014;61(5):585-92. doi: 10.4149/neo_2014_071.
53. A hereditary haemorrhagic telangiectasia family with pulmonary involvement is unlinked to the known HHT genes, endoglin and ALK-1. Wallace GM and Shovlin CL, Thorax. 2000 Aug;55(8):685-90.
54. Expressions of SE-1, CD31 and CD105 in the vascular endothelial cells and serum of rat with hepatocellular carcinoma. Wang JY, etal., Chin Med J (Engl). 2010 Mar 20;123(6):730-3.
55. Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations. Wehner LE, etal., Clin Genet. 2006 Mar;69(3):239-45.
56. Targeting tumor vasculature with novel Listeria-based vaccines directed against CD105. Wood LM, etal., Cancer Immunol Immunother. 2011 Jul;60(7):931-42. doi: 10.1007/s00262-011-1002-x. Epub 2011 Mar 23.
57. Anti-angiogenic factors and pre-eclampsia in type 1 diabetic women. Yu Y, etal., Diabetologia. 2009 Jan;52(1):160-8. Epub 2008 Nov 5.
Additional References at PubMed
PMID:1326540   PMID:1537377   PMID:1692830   PMID:3262645   PMID:7722302   PMID:8125298   PMID:8194490   PMID:8294451   PMID:8370410   PMID:8404038   PMID:8655583   PMID:9023056  
PMID:9071813   PMID:9157574   PMID:9366572   PMID:9554745   PMID:9636649   PMID:9845534   PMID:9872992   PMID:10348742   PMID:10545596   PMID:10548503   PMID:10625079   PMID:10749981  
PMID:10982033   PMID:11382917   PMID:11692035   PMID:11793473   PMID:11986954   PMID:11987155   PMID:12009077   PMID:12015308   PMID:12228247   PMID:12365720   PMID:12447690   PMID:12477932  
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PMID:15272276   PMID:15274325   PMID:15319534   PMID:15517393   PMID:15521985   PMID:15522964   PMID:15631865   PMID:15633211   PMID:15687131   PMID:15702480   PMID:15712270   PMID:15712271  
PMID:15718503   PMID:15806144   PMID:15809709   PMID:15821778   PMID:15879500   PMID:15880681   PMID:15926713   PMID:15966703   PMID:16177881   PMID:16344560   PMID:16429404   PMID:16470589  
PMID:16525724   PMID:16552334   PMID:16601078   PMID:16646406   PMID:16705692   PMID:16751767   PMID:16776339   PMID:16785228   PMID:16840721   PMID:16870672   PMID:16907850   PMID:16982625  
PMID:17068149   PMID:17081563   PMID:17088457   PMID:17166870   PMID:17210583   PMID:17224686   PMID:17290185   PMID:17311849   PMID:17311868   PMID:17388964   PMID:17426082   PMID:17482348  
PMID:17496924   PMID:17540773   PMID:17564791   PMID:17579118   PMID:17594108   PMID:17608955   PMID:17673527   PMID:17682823   PMID:17786384   PMID:17852832   PMID:17956952   PMID:17964708  
PMID:18029348   PMID:18156205   PMID:18175241   PMID:18223685   PMID:18276933   PMID:18312453   PMID:18316564   PMID:18330257   PMID:18330824   PMID:18353434   PMID:18366008   PMID:18440621  
PMID:18462791   PMID:18476626   PMID:18494936   PMID:18498373   PMID:18519764   PMID:18607909   PMID:18669913   PMID:18673552   PMID:18676680   PMID:18702104   PMID:18758636   PMID:18771978  
PMID:18775991   PMID:18798555   PMID:18805961   PMID:18810471   PMID:18815549   PMID:18855162   PMID:18922939   PMID:18949376   PMID:18971528   PMID:18974388   PMID:19004009   PMID:19008959  
PMID:19039203   PMID:19074480   PMID:19080433   PMID:19088371   PMID:19115106   PMID:19116719   PMID:19135290   PMID:19141403   PMID:19165674   PMID:19170196   PMID:19205515   PMID:19211612  
PMID:19250924   PMID:19253312   PMID:19268655   PMID:19270816   PMID:19350449   PMID:19352388   PMID:19412349   PMID:19419943   PMID:19508727   PMID:19544399   PMID:19578796   PMID:19625176  
PMID:19661015   PMID:19670444   PMID:19692168   PMID:19736306   PMID:19788614   PMID:19889225   PMID:19890661   PMID:19912365   PMID:19913121   PMID:19919302   PMID:19939849   PMID:20067780  
PMID:20082874   PMID:20098615   PMID:20134268   PMID:20199197   PMID:20214506   PMID:20223440   PMID:20233512   PMID:20301525   PMID:20301658   PMID:20346360   PMID:20412114   PMID:20414677  
PMID:20430360   PMID:20594474   PMID:20619547   PMID:20628086   PMID:20656886   PMID:20670156   PMID:20694148   PMID:20712008   PMID:20856203   PMID:20878063   PMID:20948996   PMID:20955379  
PMID:20981476   PMID:21042283   PMID:21062661   PMID:21070126   PMID:21158752   PMID:21170488   PMID:21208277   PMID:21245995   PMID:21344387   PMID:21423176   PMID:21444673   PMID:21546842  
PMID:21655651   PMID:21668763   PMID:21737454   PMID:21778318   PMID:21793708   PMID:21823022   PMID:21827221   PMID:21867402   PMID:21873635   PMID:21886815   PMID:21914777   PMID:21921088  
PMID:21939291   PMID:21949130   PMID:21962138   PMID:21966395   PMID:21967607   PMID:22020071   PMID:22022569   PMID:22116456   PMID:22133666   PMID:22192717   PMID:22246909   PMID:22264588  
PMID:22266931   PMID:22271899   PMID:22322190   PMID:22347366   PMID:22385575   PMID:22395512   PMID:22453150   PMID:22498340   PMID:22587951   PMID:22593212   PMID:22608563   PMID:22677372  
PMID:22768148   PMID:22789855   PMID:22810586   PMID:22869457   PMID:22939629   PMID:22940691   PMID:22941564   PMID:23000880   PMID:23074273   PMID:23088614   PMID:23110221   PMID:23110859  
PMID:23147994   PMID:23163119   PMID:23211052   PMID:23244127   PMID:23261267   PMID:23264219   PMID:23274166   PMID:23279628   PMID:23300529   PMID:23306069   PMID:23321791   PMID:23341958  
PMID:23376845   PMID:23397382   PMID:23399955   PMID:23437230   PMID:23440993   PMID:23471755   PMID:23475485   PMID:23531181   PMID:23548068   PMID:23684116   PMID:23722869   PMID:23746240  
PMID:23806447   PMID:23808956   PMID:23868260   PMID:23893879   PMID:23917399   PMID:23919827   PMID:23955456   PMID:23967299   PMID:23975255   PMID:24065188   PMID:24162774   PMID:24217170  
PMID:24240683   PMID:24252708   PMID:24267784   PMID:24273904   PMID:24308064   PMID:24319055   PMID:24322015   PMID:24323303   PMID:24364465   PMID:24380505   PMID:24507660   PMID:24594997  
PMID:24715163   PMID:24777481   PMID:24798676   PMID:24851923   PMID:25015036   PMID:25053574   PMID:25058886   PMID:25063739   PMID:25070888   PMID:25080347   PMID:25216259   PMID:25219660  
PMID:25279424   PMID:25286761   PMID:25312062   PMID:25313562   PMID:25376533   PMID:25398480   PMID:25434840   PMID:25439793   PMID:25503931   PMID:25520129   PMID:25631522   PMID:25683142  
PMID:25710582   PMID:25760803   PMID:25773125   PMID:25803686   PMID:25847705   PMID:25979720   PMID:25986715   PMID:26067657   PMID:26078569   PMID:26153627   PMID:26159901   PMID:26169712  
PMID:26191205   PMID:26193208   PMID:26334621   PMID:26395556   PMID:26476083   PMID:26559253   PMID:26646071   PMID:26850053   PMID:26857067   PMID:26884265   PMID:26897508   PMID:27067718  
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PMID:28450296   PMID:28564608   PMID:28609171   PMID:28613009   PMID:28621442   PMID:28627965   PMID:28633389   PMID:28735679   PMID:28746898   PMID:28793246   PMID:28939895   PMID:28941022  
PMID:28960105   PMID:29048420   PMID:29065449   PMID:29080903   PMID:29243366   PMID:29286924   PMID:29287901   PMID:29304781   PMID:29305977   PMID:29334284   PMID:29393426   PMID:29401587  
PMID:29414396   PMID:29438260   PMID:29459262   PMID:29516931   PMID:29526310   PMID:29565476   PMID:29643433   PMID:29717261   PMID:29734249   PMID:30001387   PMID:30049191   PMID:30097533  
PMID:30108051   PMID:30177039   PMID:30177044   PMID:30177832   PMID:30197335   PMID:30211969   PMID:30248336   PMID:30251589   PMID:30488859   PMID:30496724   PMID:30563158   PMID:30574760  
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PMID:32303606   PMID:32316263   PMID:32434528   PMID:32454407   PMID:32468445   PMID:32523017   PMID:32711434   PMID:32954511   PMID:33081058   PMID:33201366   PMID:33247698   PMID:33401341  
PMID:33471197   PMID:33545068   PMID:33566682   PMID:33567345   PMID:33627635   PMID:33752711   PMID:33768677   PMID:33788713   PMID:34091990   PMID:34116485   PMID:34297917   PMID:34587660  
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PMID:35409247   PMID:35455644   PMID:35475405   PMID:35475412   PMID:35487791   PMID:35696571   PMID:35955799   PMID:36586013   PMID:36613090   PMID:36614087   PMID:36990159   PMID:37093432  
PMID:37315795   PMID:37432984   PMID:37493567   PMID:37603052   PMID:37787034   PMID:38272329   PMID:38272447   PMID:38355093  


Genomics

Comparative Map Data
ENG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389127,815,016 - 127,854,658 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9127,815,013 - 127,854,658 (-)EnsemblGRCh38hg38GRCh38
GRCh379130,577,291 - 130,617,052 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,617,115 - 129,656,805 (-)NCBINCBI36Build 36hg18NCBI36
Build 349127,656,849 - 127,696,538NCBI
Celera9101,228,133 - 101,267,888 (-)NCBICelera
Cytogenetic Map9q34.11NCBI
HuRef9100,194,111 - 100,234,515 (-)NCBIHuRef
CHM1_19130,728,823 - 130,768,983 (-)NCBICHM1_1
T2T-CHM13v2.09140,022,435 - 140,062,072 (-)NCBIT2T-CHM13v2.0
Eng
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39232,536,607 - 32,572,681 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl232,536,607 - 32,572,681 (+)EnsemblGRCm39 Ensembl
GRCm38232,646,595 - 32,682,669 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl232,646,595 - 32,682,669 (+)EnsemblGRCm38mm10GRCm38
MGSCv37232,502,115 - 32,538,189 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36232,468,604 - 32,504,127 (+)NCBIMGSCv36mm8
Celera232,353,177 - 32,389,276 (+)NCBICelera
Cytogenetic Map2BNCBI
cM Map222.09NCBI
Eng
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8336,332,190 - 36,370,324 (+)NCBIGRCr8
mRatBN7.2315,934,566 - 15,972,618 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl315,934,518 - 15,973,230 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx319,003,353 - 19,041,237 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0327,588,363 - 27,626,245 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0325,839,360 - 25,877,319 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0311,679,530 - 11,717,486 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl311,679,530 - 11,717,485 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0317,021,673 - 17,058,548 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera310,675,660 - 10,713,537 (+)NCBICelera
Cytogenetic Map3p11NCBI
Eng
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955419818,932 - 852,694 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955419818,797 - 853,319 (+)NCBIChiLan1.0ChiLan1.0
ENG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21111,500,636 - 11,540,554 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1911,502,983 - 11,542,901 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0998,934,080 - 98,973,862 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19127,605,608 - 127,644,641 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9127,605,608 - 127,644,641 (-)Ensemblpanpan1.1panPan2
ENG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1955,558,246 - 55,590,081 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl955,558,305 - 55,589,064 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha954,752,221 - 54,783,620 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0956,480,195 - 56,511,601 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl956,480,054 - 56,511,589 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1955,240,157 - 55,271,556 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0955,554,890 - 55,586,290 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0955,646,354 - 55,677,713 (+)NCBIUU_Cfam_GSD_1.0
Eng
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947195,698,638 - 195,730,666 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648715,467,835 - 15,477,488 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648715,467,165 - 15,499,180 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ENG
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1268,309,400 - 268,343,783 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11268,309,379 - 268,343,861 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21302,232,063 - 302,266,139 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ENG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11210,274,705 - 10,315,715 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1210,275,064 - 10,315,040 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660795,905,669 - 5,949,288 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Eng
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247607,703,820 - 7,734,457 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247607,703,979 - 7,735,636 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ENG
1153 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001114753.3(ENG):c.1124_1125del (p.Glu375fs) microsatellite Telangiectasia, hereditary hemorrhagic, type 1 [RCV000545314] Chr9:127824313..127824314 [GRCh38]
Chr9:130586592..130586593 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.67+1G>A single nucleotide variant Cardiovascular phenotype [RCV002367727]|Hereditary hemorrhagic telangiectasia [RCV001851484]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000018155]|not provided [RCV000521385] Chr9:127854288 [GRCh38]
Chr9:130616567 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.1592G>A (p.Ser531Asn) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002231263] Chr9:127818214 [GRCh38]
Chr9:130580493 [GRCh37]
Chr9:9q34.11
uncertain significance
NC_000009.12:g.(?_127843088)_(127843251_?)del deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV000531669] Chr9:127843088..127843251 [GRCh38]
Chr9:130605367..130605530 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.512G>C (p.Arg171Pro) single nucleotide variant Cardiovascular phenotype [RCV003278865]|not provided [RCV000523480] Chr9:127826521 [GRCh38]
Chr9:130588800 [GRCh37]
Chr9:9q34.11
likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.1741+10C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003153683] Chr9:127817139 [GRCh38]
Chr9:130579418 [GRCh37]
Chr9:9q34.11
likely benign
NM_001114753.3(ENG):c.882_920del (p.Thr295_Asn307del) deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV000018149] Chr9:127824871..127824909 [GRCh38]
Chr9:130587150..130587188 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.1553_1554del (p.Ser518fs) deletion Hereditary hemorrhagic telangiectasia [RCV003593861]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000018150] Chr9:127818252..127818253 [GRCh38]
Chr9:130580531..130580532 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.360+4A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001851903]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000018151] Chr9:127829683 [GRCh38]
Chr9:130591962 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
ENG, IVS3DS, G-A, +1 deletion Hereditary hemorrhagic telangiectasia type 1 [RCV000018152]|Osler hemorrhagic telangiectasia syndrome [RCV000018152] Chr9:9q34.1 pathogenic
ENG, IVS1DS, G-A, +1 single nucleotide variant Hereditary hemorrhagic telangiectasia type 1 [RCV000018155]|Osler hemorrhagic telangiectasia syndrome [RCV000018155] Chr9:9q34.1 pathogenic
NM_001114753.3(ENG):c.1240A>T (p.Met414Leu) single nucleotide variant not provided [RCV001507760] Chr9:127819932 [GRCh38]
Chr9:130582211 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001114753.3(ENG):c.1139del (p.His379_Leu380insTer) deletion Hereditary hemorrhagic telangiectasia [RCV001982664] Chr9:127820033 [GRCh38]
Chr9:130582312 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.742_743insT (p.Asp248fs) insertion not provided [RCV000722430] Chr9:127825304..127825305 [GRCh38]
Chr9:130587583..130587584 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001114753.3(ENG):c.392del (p.Pro131fs) deletion Hereditary hemorrhagic telangiectasia [RCV002231267]|Spontaneous, recurrent epistaxis [RCV001281495]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV003319369] Chr9:127826641 [GRCh38]
Chr9:130588920 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.219+1G>A single nucleotide variant Cardiovascular phenotype [RCV002420376]|Hereditary hemorrhagic telangiectasia [RCV000547239] Chr9:127843093 [GRCh38]
Chr9:130605372 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_001114753.3(ENG):c.578C>T (p.Thr193Met) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002231269]|not provided [RCV001764537] Chr9:127825806 [GRCh38]
Chr9:130588085 [GRCh37]
Chr9:9q34.11
likely benign|uncertain significance
NM_001114753.3(ENG):c.1111dup (p.Val371fs) duplication Hereditary hemorrhagic telangiectasia [RCV002231256] Chr9:127824326..127824327 [GRCh38]
Chr9:130586605..130586606 [GRCh37]
Chr9:9q34.11
pathogenic
NC_000009.12:g.(?_127829681)_(127829833_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001383144]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000553372] Chr9:127829681..127829833 [GRCh38]
Chr9:130591960..130592112 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.1217G>A (p.Arg406His) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002231257] Chr9:127819955 [GRCh38]
Chr9:130582234 [GRCh37]
Chr9:9q34.11
benign|uncertain significance
NM_001114753.3(ENG):c.831C>G (p.Tyr277Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593860]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000018148] Chr9:127824960 [GRCh38]
Chr9:130587239 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.2T>C (p.Met1Thr) single nucleotide variant Cardiovascular phenotype [RCV002433460]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000018153] Chr9:127854354 [GRCh38]
Chr9:130616633 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.1238G>T (p.Gly413Val) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000018154] Chr9:127819934 [GRCh38]
Chr9:130582213 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001212827]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000018156] Chr9:127829687 [GRCh38]
Chr9:130591966 [GRCh37]
Chr9:9q34.11
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1 copy number loss See cases [RCV000052923] Chr9:125993583..129682375 [GRCh38]
Chr9:128755862..132444654 [GRCh37]
Chr9:127795683..131484475 [NCBI36]
Chr9:9q33.3-34.11
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
NM_001114753.3(ENG):c.207G>A (p.Leu69=) single nucleotide variant Cardiovascular phenotype [RCV002415613]|Hereditary hemorrhagic telangiectasia [RCV001517824]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000368171]|not specified [RCV000150652] Chr9:127843106 [GRCh38]
Chr9:130605385 [GRCh37]
Chr9:9q34.11
benign|likely benign
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) single nucleotide variant Cardiovascular phenotype [RCV002381438]|Hereditary hemorrhagic telangiectasia [RCV001515050]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000321720]|not specified [RCV000155540] Chr9:127824409 [GRCh38]
Chr9:130586688 [GRCh37]
Chr9:9q34.11
benign|likely benign
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) single nucleotide variant Cardiovascular phenotype [RCV002399495]|Hereditary hemorrhagic telangiectasia [RCV001081891]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000361084]|not specified [RCV000124891] Chr9:127824378 [GRCh38]
Chr9:130586657 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_001114753.3(ENG):c.1429-8C>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003759039]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001286942] Chr9:127818385 [GRCh38]
Chr9:130580664 [GRCh37]
Chr9:9q34.11
likely benign|uncertain significance
NM_001114753.3(ENG):c.1273-2A>G single nucleotide variant Cardiovascular phenotype [RCV002371992]|Haemorrhagic telangiectasia 1 [RCV000149883]|Hereditary hemorrhagic telangiectasia [RCV000791417]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000679898]|not provided [RCV000256118]|not specified [RCV000508197] Chr9:127819662 [GRCh38]
Chr9:130581941 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) single nucleotide variant Cardiovascular phenotype [RCV002408654]|Haemorrhagic telangiectasia 1 [RCV000148482]|Hereditary hemorrhagic telangiectasia [RCV001079415]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000230696]|not provided [RCV000756073]|not specified [RCV000243657] Chr9:127815951 [GRCh38]
Chr9:130578230 [GRCh37]
Chr9:9q34.11
benign|likely benign
NM_001114753.3(ENG):c.1274C>T (p.Ala425Val) single nucleotide variant Haemorrhagic telangiectasia 1 [RCV000148483]|Hereditary hemorrhagic telangiectasia [RCV001348889] Chr9:127819659 [GRCh38]
Chr9:130581938 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001114753.3(ENG):c.1510G>A (p.Val504Met) single nucleotide variant Cardiovascular phenotype [RCV002390308]|Haemorrhagic telangiectasia 1 [RCV000148485]|Hereditary hemorrhagic telangiectasia [RCV000858405]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000273165]|not provided [RCV001610455]|not specified [RCV000246668] Chr9:127818296 [GRCh38]
Chr9:130580575 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) single nucleotide variant Cardiovascular phenotype [RCV002371988]|Galloway-Mowat syndrome 1 [RCV001258238]|Haemorrhagic telangiectasia 1 [RCV000148486]|Hereditary hemorrhagic telangiectasia [RCV000857942]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000346221]|not provided [RCV001588996]|not specified [RCV000178045] Chr9:127826641 [GRCh38]
Chr9:130588920 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser) single nucleotide variant Cardiovascular phenotype [RCV003298151]|ENG-related condition [RCV003407567]|Haemorrhagic telangiectasia 1 [RCV000148487]|Hereditary hemorrhagic telangiectasia [RCV000859971]|Pulmonary hypertension, primary, 1 [RCV000488867]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000457880] Chr9:127825744 [GRCh38]
Chr9:130588023 [GRCh37]
Chr9:9q34.11
pathogenic|benign|likely benign|uncertain significance
NM_001114753.3(ENG):c.1290G>T (p.Leu430=) single nucleotide variant Cardiovascular phenotype [RCV003294187]|Hereditary hemorrhagic telangiectasia [RCV001459020]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001287575] Chr9:127819643 [GRCh38]
Chr9:130581922 [GRCh37]
Chr9:9q34.11
likely benign
NM_001114753.3(ENG):c.67+5G>A single nucleotide variant not provided [RCV000173066] Chr9:127854284 [GRCh38]
Chr9:130616563 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001114753.3(ENG):c.158G>A (p.Cys53Tyr) single nucleotide variant not provided [RCV000143888] Chr9:127843155 [GRCh38]
Chr9:130605434 [GRCh37]
Chr9:9q34.11
uncertain significance
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_001114753.3(ENG):c.1135C>A (p.His379Asn) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001294530] Chr9:127820037 [GRCh38]
Chr9:130582316 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001114753.3(ENG):c.1744T>G (p.Cys582Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001312394] Chr9:127816051 [GRCh38]
Chr9:130578330 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001114753.3(ENG):c.1572C>T (p.Pro524=) single nucleotide variant Cardiovascular phenotype [RCV003298214]|Hereditary hemorrhagic telangiectasia [RCV000633153]|not provided [RCV000174219] Chr9:127818234 [GRCh38]
Chr9:130580513 [GRCh37]
Chr9:9q34.11
likely benign|uncertain significance
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3
pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1 copy number loss See cases [RCV000137787] Chr9:125055865..128637946 [GRCh38]
Chr9:127818144..131400225 [GRCh37]
Chr9:126857965..130440046 [NCBI36]
Chr9:9q33.3-34.11
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_001114753.3(ENG):c.818C>T (p.Thr273Ile) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000809325]|not specified [RCV000150651] Chr9:127824973 [GRCh38]
Chr9:130587252 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) single nucleotide variant Cardiovascular phenotype [RCV002453483]|ENG-related condition [RCV003891683]|Hereditary hemorrhagic telangiectasia [RCV000857857]|Pulmonary arterial hypertension [RCV002285147]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000309805]|not provided [RCV001573276]|not specified [RCV000150650] Chr9:127824342 [GRCh38]
Chr9:130586621 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) single nucleotide variant Cardiovascular phenotype [RCV002390352]|Hereditary hemorrhagic telangiectasia [RCV001083206]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000284602]|not provided [RCV001573847]|not specified [RCV000155541] Chr9:127854342 [GRCh38]
Chr9:130616621 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_001114753.3(ENG):c.259C>T (p.Gln87Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000157221] Chr9:127829788 [GRCh38]
Chr9:130592067 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_001114753.3(ENG):c.360+1G>A single nucleotide variant Cardiovascular phenotype [RCV002450790]|Hereditary hemorrhagic telangiectasia [RCV001034674]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000274164]|not provided [RCV000255227] Chr9:127829686 [GRCh38]
Chr9:130591965 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.596G>A (p.Arg199His) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000859173]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000211433]|not provided [RCV002262803] Chr9:127825788 [GRCh38]
Chr9:130588067 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs) deletion Cardiovascular phenotype [RCV002415836]|Hereditary hemorrhagic telangiectasia [RCV002229104]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000234034]|not provided [RCV000200429] Chr9:127824355..127824358 [GRCh38]
Chr9:130586634..130586637 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) single nucleotide variant Cardiovascular phenotype [RCV002399723]|ENG-related condition [RCV003907720]|Hereditary hemorrhagic telangiectasia [RCV000791433]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000229345]|not provided [RCV000755259] Chr9:127818220 [GRCh38]
Chr9:130580499 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001114753.3(ENG):c.1428+2T>C single nucleotide variant Cardiovascular phenotype [RCV002390515]|Hereditary hemorrhagic telangiectasia [RCV001853140]|not provided [RCV000200447] Chr9:127818714 [GRCh38]
Chr9:130580993 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.991+21_991+26dup duplication not specified [RCV000196850] Chr9:127824773..127824774 [GRCh38]
Chr9:130587052..130587053 [GRCh37]
Chr9:9q34.11
benign
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) single nucleotide variant Cardiovascular phenotype [RCV002408862]|Hereditary hemorrhagic telangiectasia [RCV001079981]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000228000]|not provided [RCV001706173]|not specified [RCV000196861] Chr9:127816001 [GRCh38]
Chr9:130578280 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) single nucleotide variant Cardiovascular phenotype [RCV002345702]|ENG-related condition [RCV003891766]|Hereditary hemorrhagic telangiectasia [RCV001084372]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000205223]|not provided [RCV001706172]|not specified [RCV000200751] Chr9:127825812 [GRCh38]
Chr9:130588091 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_001114753.3(ENG):c.1550_1551del (p.Val517fs) microsatellite Hereditary hemorrhagic telangiectasia [RCV002517174]|not provided [RCV000197179] Chr9:127818255..127818256 [GRCh38]
Chr9:130580534..130580535 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter) single nucleotide variant Cardiovascular phenotype [RCV002453717]|Hereditary hemorrhagic telangiectasia [RCV000695516]|Inborn genetic diseases [RCV001266636]|not provided [RCV000198121] Chr9:127829800 [GRCh38]
Chr9:130592079 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.1715T>A (p.Leu572Ter) single nucleotide variant Cardiovascular phenotype [RCV002408863]|Hereditary hemorrhagic telangiectasia [RCV000553924]|not provided [RCV000198174] Chr9:127817175 [GRCh38]
Chr9:130579454 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.1428+1G>A single nucleotide variant Cardiovascular phenotype [RCV002390514]|Hereditary hemorrhagic telangiectasia [RCV000551278]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001286561]|not provided [RCV000198224] Chr9:127818715 [GRCh38]
Chr9:130580994 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1312A>T (p.Lys438Ter) single nucleotide variant Cardiovascular phenotype [RCV002381667]|Hereditary hemorrhagic telangiectasia [RCV001056962]|not provided [RCV000198335] Chr9:127818832 [GRCh38]
Chr9:130581111 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.444G>T (p.Glu148Asp) single nucleotide variant not specified [RCV000198531] Chr9:127826589 [GRCh38]
Chr9:130588868 [GRCh37]
Chr9:9q34.11
likely benign
NM_001114753.3(ENG):c.446G>A (p.Trp149Ter) single nucleotide variant Cardiovascular phenotype [RCV002327036]|not provided [RCV000195747] Chr9:127826587 [GRCh38]
Chr9:130588866 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_001114753.3(ENG):c.98A>C (p.Gln33Pro) single nucleotide variant not provided [RCV000195862] Chr9:127843215 [GRCh38]
Chr9:130605494 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001114753.3(ENG):c.359A>G (p.Tyr120Cys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003003338] Chr9:127829688 [GRCh38]
Chr9:130591967 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) single nucleotide variant Cardiovascular phenotype [RCV002381666]|Hereditary hemorrhagic telangiectasia [RCV000755255]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000206022]|not provided [RCV001795317]|not specified [RCV000196025] Chr9:127818770 [GRCh38]
Chr9:130581049 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001114753.3(ENG):c.1272+1G>A single nucleotide variant not provided [RCV000196088] Chr9:127819899 [GRCh38]
Chr9:130582178 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.562C>T (p.Gln188Ter) single nucleotide variant Cardiovascular phenotype [RCV002345703]|Hereditary hemorrhagic telangiectasia [RCV000702018]|not provided [RCV000199857] Chr9:127825822 [GRCh38]
Chr9:130588101 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.689+2T>C single nucleotide variant not provided [RCV000200037] Chr9:127825693 [GRCh38]
Chr9:130587972 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.640_643del (p.Gly214fs) microsatellite Cardiovascular phenotype [RCV002363031]|Hereditary hemorrhagic telangiectasia [RCV001041455]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000205417]|not provided [RCV003480553] Chr9:127825741..127825744 [GRCh38]
Chr9:130588020..130588023 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.1311G>C (p.Arg437=) single nucleotide variant Cardiovascular phenotype [RCV002384068]|Hereditary hemorrhagic telangiectasia [RCV002231261]|not provided [RCV003480670] Chr9:127819622 [GRCh38]
Chr9:130581901 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_001114753.3(ENG):c.-188G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002533118]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001165531]|not provided [RCV000756075] Chr9:127854543 [GRCh38]
Chr9:130616822 [GRCh37]
Chr9:9q34.11
likely benign|uncertain significance
NM_001114753.3(ENG):c.687C>T (p.Ala229=) single nucleotide variant Cardiovascular phenotype [RCV002360866]|Hereditary hemorrhagic telangiectasia [RCV001085370]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV003640938] Chr9:127825697 [GRCh38]
Chr9:130587976 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp) single nucleotide variant Cardiovascular phenotype [RCV002386313]|Hereditary hemorrhagic telangiectasia [RCV001062873]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000756074]|not provided [RCV001726323] Chr9:127819624 [GRCh38]
Chr9:130581903 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_001114753.3(ENG):c.97C>T (p.Gln33Ter) single nucleotide variant not provided [RCV000756081] Chr9:127843216 [GRCh38]
Chr9:130605495 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.1282A>C (p.Asn428His) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000211515] Chr9:127819651 [GRCh38]
Chr9:130581930 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001114753.3(ENG):c.1932C>T (p.Ile644=) single nucleotide variant Cardiovascular phenotype [RCV002408920]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000282878]|not provided [RCV001723792]|not specified [RCV000214944] Chr9:127815727 [GRCh38]
Chr9:130578006 [GRCh37]
Chr9:9q34.11
benign|likely benign
NM_001114753.3(ENG):c.1672G>A (p.Gly558Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000229759] Chr9:127818134 [GRCh38]
Chr9:130580413 [GRCh37]
Chr9:9q34.11
likely benign|uncertain significance
NM_001114753.3(ENG):c.150G>A (p.Ser50=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001464327] Chr9:127843163 [GRCh38]
Chr9:130605442 [GRCh37]
Chr9:9q34.11
likely benign
NM_001114753.3(ENG):c.1407G>A (p.Pro469=) single nucleotide variant Cardiovascular phenotype [RCV002390596]|Hereditary hemorrhagic telangiectasia [RCV000858828]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000229946]|not provided [RCV001651082] Chr9:127818737 [GRCh38]
Chr9:130581016 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001114753.3(ENG):c.67del (p.Ser23fs) deletion Hereditary hemorrhagic telangiectasia [RCV002229651] Chr9:127854289 [GRCh38]
Chr9:130616568 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.1762G>A (p.Val588Ile) single nucleotide variant Cardiovascular phenotype [RCV002408948]|Hereditary hemorrhagic telangiectasia [RCV000233031]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001169423]|not provided [RCV003221872]|not specified [RCV000414391] Chr9:127816033 [GRCh38]
Chr9:130578312 [GRCh37]
Chr9:9q34.11
benign|likely benign|uncertain significance
NM_001114753.3(ENG):c.120C>T (p.Gly40=) single nucleotide variant Cardiovascular phenotype [RCV002354632]|Hereditary hemorrhagic telangiectasia [RCV000755522]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000231697]|not provided [RCV001572862]|not specified [RCV000251027] Chr9:127843193 [GRCh38]
Chr9:130605472 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_001114753.3(ENG):c.1533G>A (p.Ala511=) single nucleotide variant Cardiovascular phenotype [RCV002399806]|Hereditary hemorrhagic telangiectasia [RCV000226501]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001166480]|not provided [RCV001579527] Chr9:127818273 [GRCh38]
Chr9:130580552 [GRCh37]
Chr9:9q34.11
benign|likely benign
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys) single nucleotide variant Cardiovascular phenotype [RCV002327101]|ENG-related condition [RCV003422129]|Hereditary hemorrhagic telangiectasia [RCV000231233]|See cases [RCV002223199]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002494618]|not provided [RCV000427340] Chr9:127826586 [GRCh38]
Chr9:130588865 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.219+22C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001513011]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000227257]|not provided [RCV003389736]|not specified [RCV000454889] Chr9:127843072 [GRCh38]
Chr9:130605351 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_001114753.3(ENG):c.159C>T (p.Cys53=) single nucleotide variant Cardiovascular phenotype [RCV002399807]|ENG-related condition [RCV003907846]|Hereditary hemorrhagic telangiectasia [RCV000858458]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000233208]|not provided [RCV001640379] Chr9:127843154 [GRCh38]
Chr9:130605433 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_001114753.3(ENG):c.68-1G>A single nucleotide variant Cardiovascular phenotype [RCV002365173]|Hereditary hemorrhagic telangiectasia [RCV001388235]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000232191]|not provided [RCV000578937] Chr9:127843246 [GRCh38]
Chr9:130605525 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1845G>T (p.Ser615=) single nucleotide variant Cardiovascular phenotype [RCV002408949]|ENG-related condition [RCV003947740]|Hereditary hemorrhagic telangiectasia [RCV001396135] Chr9:127815950 [GRCh38]
Chr9:130578229 [GRCh37]
Chr9:9q34.11
likely benign
NM_000118.3(ENG):c.817-79C>A single nucleotide variant Osler hemorrhagic telangiectasia syndrome [RCV000233910] Chr9:127825053 [GRCh38]
Chr9:130587332 [GRCh37]
Chr9:9q34.11
likely benign
NM_001114753.3(ENG):c.565G>T (p.Asp189Tyr) single nucleotide variant ENG-related condition [RCV003401164]|Hereditary hemorrhagic telangiectasia [RCV001373610] Chr9:127825819 [GRCh38]
Chr9:130588098 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001114753.3(ENG):c.1273-4G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000226658]|not provided [RCV003326379]|not specified [RCV000243023] Chr9:127819664 [GRCh38]
Chr9:130581943 [GRCh37]
Chr9:9q34.11
likely benign
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) single nucleotide variant Cardiovascular phenotype [RCV002399808]|Hereditary hemorrhagic telangiectasia [RCV000226902]|Pulmonary arterial hypertension associated with congenital heart disease [RCV000664173]|Pulmonary hypertension, primary, 1 [RCV000488732]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001166478]|not provided [RCV002225526]|not specified [RCV000454429] Chr9:127818173 [GRCh38]
Chr9:130580452 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic|benign|likely benign|uncertain significance
NM_001114753.3(ENG):c.1135-7G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000859192]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000229002] Chr9:127820044 [GRCh38]
Chr9:130582323 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001114753.3(ENG):c.-79C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001855891]|not provided [RCV000757213] Chr9:127854434 [GRCh38]
Chr9:130616713 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001114753.3(ENG):c.41_51del (p.Leu14fs) deletion not provided [RCV000757214] Chr9:127854305..127854315 [GRCh38]
Chr9:130616584..130616594 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro) single nucleotide variant Cardiovascular phenotype [RCV002370008]|Hereditary hemorrhagic telangiectasia [RCV003594026]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263078]|not provided [RCV000757215] Chr9:127824892 [GRCh38]
Chr9:130587171 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_001114753.3(ENG):c.574_580del (p.Arg192fs) deletion not provided [RCV000757219] Chr9:127825804..127825810 [GRCh38]
Chr9:130588083..130588089 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.1701del (p.Val568fs) deletion not provided [RCV000757220] Chr9:127817189 [GRCh38]
Chr9:130579468 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.1145del (p.Cys382fs) deletion not provided [RCV000757221] Chr9:127820027 [GRCh38]
Chr9:130582306 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.1089T>G (p.Cys363Trp) single nucleotide variant not provided [RCV000757222] Chr9:127824349 [GRCh38]
Chr9:130586628 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001114753.3(ENG):c.686C>A (p.Ala229Asp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001342874]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000756084] Chr9:127825698 [GRCh38]
Chr9:130587977 [GRCh37]
Chr9:9q34.11
likely benign|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002231035]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000525562]|not provided [RCV000757216] Chr9:127825239 [GRCh38]
Chr9:130587518 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.1235G>A (p.Cys412Tyr) single nucleotide variant Cardiovascular phenotype [RCV002367790]|Hereditary hemorrhagic telangiectasia [RCV000547986] Chr9:127819937 [GRCh38]
Chr9:130582216 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic
NM_001114753.3(ENG):c.219+5G>C single nucleotide variant See cases [RCV002225644]|not provided [RCV000519277] Chr9:127843089 [GRCh38]
Chr9:130605368 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.1970T>C (p.Met657Thr) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV002481545]|not provided [RCV000487632] Chr9:127815689 [GRCh38]
Chr9:130577968 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001114753.3(ENG):c.1672_1684del (p.Gly558fs) deletion Hereditary hemorrhagic telangiectasia [RCV002231031] Chr9:127818122..127818134 [GRCh38]
Chr9:130580401..130580413 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.360+21C>T single nucleotide variant not provided [RCV001610553]|not specified [RCV000243971] Chr9:127829666 [GRCh38]
Chr9:130591945 [GRCh37]
Chr9:9q34.11
benign
NM_001114753.3(ENG):c.1452C>T (p.Ser484=) single nucleotide variant Cardiovascular phenotype [RCV002392757]|Hereditary hemorrhagic telangiectasia [RCV000858443]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000382905]|not provided [RCV001698581]|not specified [RCV000251318] Chr9:127818354 [GRCh38]
Chr9:130580633 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_001114753.3(ENG):c.732C>T (p.Pro244=) single nucleotide variant Cardiovascular phenotype [RCV002379072]|Hereditary hemorrhagic telangiectasia [RCV000858937]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000389369]|not specified [RCV000253892] Chr9:127825315 [GRCh38]
Chr9:130587594 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001114753.3(ENG):c.1687-7C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002518566]|not specified [RCV000251645] Chr9:127817210 [GRCh38]
Chr9:130579489 [GRCh37]
Chr9:9q34.11
likely benign
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) single nucleotide variant Cardiovascular phenotype [RCV002436090]|Hereditary hemorrhagic telangiectasia [RCV000791375]|Pulmonary arterial hypertension [RCV001003750]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000545627]|not provided [RCV000255761] Chr9:127829770 [GRCh38]
Chr9:130592049 [GRCh37]
Chr9:9q34.11
pathogenic
NM_001114753.3(ENG):c.219+25G>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000999746]|not provided [RCV000832627]|not specified [RCV000251970] Chr9:127843069 [GRCh38]
Chr9:130605348 [GRCh37]
Chr9:9q34.11
benign
NM_001114753.3(ENG):c.67+254A>G single nucleotide variant not provided [RCV001571418] Chr9:127854035 [GRCh38]
Chr9:130616314 [GRCh37]
Chr9:9q34.11
likely benign
NM_001114753.3(ENG):c.137C>T (p.Thr46Ile) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001049228]|not provided [RCV000522014] Chr9:127843176 [GRCh38]
Chr9:130605455 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001114753.3(ENG):c.1134G>A (p.Ala378=) single nucleotide variant Cardiovascular phenotype [RCV002323931]|ENG-related condition [RCV003424095]|Hereditary hemorrhagic telangiectasia [RCV001034649]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000530058]|not provided [RCV001545412] Chr9:127824304 [GRCh38]
Chr9:130586583 [GRCh37]
Chr9:9q34.11
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001114753.3(ENG):c.361-12_361-11del deletion Juvenile Polyposis [RCV000301916]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000403036] Chr9:127826683..127826684 [GRCh38]
Chr9:130588962..130588963 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001114753.3(ENG):c.1419C>T (p.Ser473=) single nucleotide variant Cardiovascular phenotype [RCV002392925]|Hereditary hemorrhagic telangiectasia [RCV000870135]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000285067]|not provided [RCV003430957] Chr9:127818725 [GRCh38]
Chr9:130581004 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001114753.3(ENG):c.*491C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000355571] Chr9:127815191 [GRCh38]
Chr9:130577470 [GRCh37]
Chr9:9q34.11
likely benign|uncertain significance
NM_001114753.3(ENG):c.1095C>T (p.Asp365=) single nucleotide variant Cardiovascular phenotype [RCV002450942]|ENG-related condition [RCV003922642]|Hereditary hemorrhagic telangiectasia [RCV000858082]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000304178] Chr9:127824343 [GRCh38]
Chr9:130586622 [GRCh37]
Chr9:9q34.11
likely benign
NM_001114753.3(ENG):c.-289A>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000327305] Chr9:127854644 [GRCh38]
Chr9:130616923 [GRCh37]
Chr9:9q34.11
likely benign|uncertain significance
NM_001114753.3(ENG):c.*266G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000330152] Chr9:127815416 [GRCh38]
Chr9:130577695 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001114753.3(ENG):c.524-15C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002061316]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000291482]|not specified [RCV000444275] Chr9:127825875 [GRCh38]
Chr9:130588154 [GRCh37]
Chr9:9q34.11
benign|likely benign
NM_001114753.3(ENG):c.-115G>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001861341]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000393275] Chr9:127854470 [GRCh38]
Chr9:130616749 [GRCh37]
Chr9:9q34.11
benign|likely benign|uncertain significance
NM_001114753.3(ENG):c.*273A>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000354561] Chr9:127815409 [GRCh38]
Chr9:130577688 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001114753.3(ENG):c.-186G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002058775]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000326164] Chr9:127854541 [GRCh38]
Chr9:130616820 [GRCh37]
Chr9:9q34.11
benign|likely benign|uncertain significance
NM_001114753.3(ENG):c.-158C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002523736]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000311832] Chr9:127854513 [GRCh38]
Chr9:130616792 [GRCh37]
Chr9:9q34.11
benign|likely benign|uncertain significance
NM_000118.3(ENG):c.-339C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000375245] Chr9:127854694 [GRCh38]
Chr9:130616973 [GRCh37]
Chr9:9q34.11
uncertain significance
NM_001114753.3(ENG):c.900G>A (p.Leu300=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001494202]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000293976] Chr9:127824891 [GRCh38]
Chr9:130587170 [GRCh37]
Chr9:9q34.11
likely benign|uncertain significance
NM_001114753.3(ENG):c.1806C>T (p.Ile602=) single nucleotide variant Cardiovascular phenotype [RCV002411264]|Hereditary hemorrhagic telangiectasia [RCV000867486]|Juvenile Polyposis [RCV000370434]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000313397] Chr9:127815989 [GRCh38]
Chr9:130578268 [GRCh37]
Chr9:9q34.11
likely benign|uncertain significance
NM_001114753.3(ENG):c.220-6C>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001861340]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000262783] Chr9:127829833 [GRCh38]
Chr9:130592112 [GRCh37]
Chr9:9q34.11
likely benign|uncertain significance
NM_001114753.3(ENG):c.*461AACT[1] microsatellite Telangiectasia, hereditary hemorrhagic, type 1 [RCV000263182] Chr9:127815214..127815217 [GRCh38]
Chr9:130577493..130577496 [GRCh37]
Chr9:9q34.11
likely benign
NM_001114753.3(ENG):c.*523A>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000396065] Chr9:127815159 [GRCh38]
Chr9:130577438 [GRCh37]
Chr9:9q34.11
likely benign|uncertain significance
NM_001114753.3(ENG):c.322C>T (p.His108Tyr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001373160]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000396856]|not provided [RCV002058772] Chr9:127829725 [GRCh38]
Chr9:130592004 [GRCh37]
Chr9:9q34.11
benign|likely benign|uncertain significance
NM_001114753.3(ENG):c.909C>T (p.Ala303=) single nucleotide variant Cardiovascular phenotype [RCV002446626]|Hereditary hemorrhagic telangiectasia [RCV000858552]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000263118]|not provided [RCV002225608]|not specified [RCV000615372] Chr9:127824882 [GRCh38]
Chr9:130587161 [GRCh37]
Chr9:9q34.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_000118.3(ENG):c.-338G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000378578] Chr9:127854693 [GRCh38]
Chr9:130616972 [GRCh37]
Chr9:9q34.11