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 Orthologs
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 Ensembl9127,811,130 - 127,854,773 (-)EnsemblGRCh38hg38GRCh38
GRCh379130,577,295 - 130,616,937 (-)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)
dystonia  (IAGP)
early infantile epileptic encephalopathy  (IAGP)
Epistaxis  (ISO)
Experimental Radiation Injuries  (ISO)
Galloway-Mowat syndrome 1  (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)
intracranial aneurysm  (IAGP)
juvenile polyposis syndrome  (IAGP)
Kidney Reperfusion Injury  (ISO)
Leber congenital amaurosis  (IAGP)
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)
2-bromohexadecanoic acid  (EXP)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-amino-2,6-dinitrotoluene  (ISO)
4-aminobenzhydrazide  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
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,ISO)
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,ISO)
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 arsenite  (EXP)
sodium dichromate  (EXP)
sulfadimethoxine  (ISO)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
Tesaglitazar  (ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
thiram  (EXP)
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)
artery morphogenesis  (IEA,ISS)
atrial cardiac muscle tissue morphogenesis  (IEA,ISS)
atrioventricular canal morphogenesis  (IEA,ISS)
BMP signaling pathway  (TAS)
bone development  (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  (IMP)
cell migration involved in endocardial cushion formation  (IEA)
cell motility  (IMP)
cellular response to mechanical stimulus  (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 involved in endocardial cushion formation  (IEA,ISS)
extracellular matrix constituent secretion  (ISO)
extracellular matrix disassembly  (IMP)
heart development  (IEA)
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 SMAD protein signal transduction  (IMP)
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)
positive regulation of BMP signaling pathway  (IDA)
positive regulation of collagen biosynthetic process  (ISO)
positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation  (IEA,ISS)
positive regulation of gene expression  (ISO)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IGI)
positive regulation of protein phosphorylation  (ISO)
positive regulation of SMAD protein signal transduction  (IDA,IMP)
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  (IDA,ISO)
response to hypoxia  (IDA)
response to transforming growth factor beta  (ISO)
response to xenobiotic stimulus  (ISO)
smooth muscle tissue development  (IEA,ISS)
sprouting angiogenesis  (ISS)
transforming growth factor beta receptor signaling pathway  (IDA)
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)
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)
Cerebral arteriovenous malformation  (IAGP)
Cerebral berry aneurysm  (IAGP)
Cerebral hemorrhage  (IAGP)
Chest pain  (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)
Dystonia  (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)
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)
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)
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, 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  
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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  
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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  
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PMID:21939291   PMID:21949130   PMID:21962138   PMID:21966395   PMID:21967607   PMID:22020071   PMID:22022569   PMID:22116456   PMID:22133666   PMID:22192717   PMID:22246909   PMID:22264588  
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PMID:22768148   PMID:22789855   PMID:22810586   PMID:22869457   PMID:22939629   PMID:22940691   PMID:22941564   PMID:23000880   PMID:23074273   PMID:23088614   PMID:23110221   PMID:23110859  
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PMID:37315795   PMID:37432984   PMID:37493567   PMID:37603052   PMID:37787034   PMID:38272329   PMID:38272447   PMID:38355093   PMID:39499777  


Genomics

Comparative Map Data
ENG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389127,815,016 - 127,854,658 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9127,811,130 - 127,854,773 (-)EnsemblGRCh38hg38GRCh38
GRCh379130,577,295 - 130,616,937 (-)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
1481 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]|not provided [RCV004791227] Chr9:127818252..127818253 [GRCh38]
Chr9:130580531..130580532 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.360+4A>G single nucleotide variant Cardiovascular phenotype [RCV004018638]|Hereditary hemorrhagic telangiectasia [RCV001851903]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000018151]|not provided [RCV004700247] 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 Cardiovascular phenotype [RCV004992329]|Hereditary hemorrhagic telangiectasia [RCV002231267]|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 provided [RCV004706568]|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 provided [RCV004706569]|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 provided [RCV004706570]|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]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV005042288] 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 disorder [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 Hereditary hemorrhagic telangiectasia [RCV005089873]|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 disorder [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 Hereditary hemorrhagic telangiectasia [RCV005089770]|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|likely pathogenic
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) single nucleotide variant Cardiovascular phenotype [RCV002399723]|ENG-related disorder [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 disorder [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]|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]|ENG-related disorder [RCV004752789]|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]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV005089996]|not provided [RCV000198335] Chr9:127818832 [GRCh38]
Chr9:130581111 [GRCh37]
Chr9:9q34.11		 pathogenic|likely 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]|Hereditary hemorrhagic telangiectasia [RCV005089995]|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]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV005045156] 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 Cardiovascular phenotype [RCV004992100]|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 disorder [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 disorder [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 disorder [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 disorder [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]|ENG-related disorder [RCV004752806]|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 Telangiectasia, hereditary hemorrhagic, type 1 [RCV003989119]|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 disorder [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 Hereditary hemorrhagic telangiectasia [RCV005090605]|Juvenile Polyposis [RCV000301916]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000403036] Chr9:127826683..127826684 [GRCh38]
Chr9:130588962..130588963 [GRCh37]
Chr9:9q34.11		 likely benign|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 disorder [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 provided [RCV004705480]|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 Cardiovascular phenotype [RCV004619279]|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 Cardiovascular phenotype [RCV004022107]|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		 uncertain significance
NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001201388]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000315391]|not provided [RCV000757218] Chr9:127818828 [GRCh38]
Chr9:130581107 [GRCh37]
Chr9:9q34.11		 benign|likely benign|uncertain significance
NM_001114753.3(ENG):c.-289A>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000324048] Chr9:127854644 [GRCh38]
Chr9:130616923 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_000118.3(ENG):c.-343C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000350097] Chr9:127854698 [GRCh38]
Chr9:130616977 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.321G>T (p.Leu107=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000916437]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000298103]|not provided [RCV002058773] Chr9:127829726 [GRCh38]
Chr9:130592005 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.-54C>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002058774]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000404171] Chr9:127854409 [GRCh38]
Chr9:130616688 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.*133C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000379870] Chr9:127815549 [GRCh38]
Chr9:130577828 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1852+52G>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000300388] Chr9:127815891 [GRCh38]
Chr9:130578170 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1429-9_1429-6dup duplication Hereditary hemorrhagic telangiectasia [RCV001510674]|Juvenile Polyposis [RCV000266917]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000324355] Chr9:127818382..127818383 [GRCh38]
Chr9:130580661..130580662 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.-246T>C single nucleotide variant Juvenile Polyposis [RCV000362219]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000272175] Chr9:127854601 [GRCh38]
Chr9:130616880 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1554_1555del (p.Leu519fs) deletion Cardiovascular phenotype [RCV002401973]|Hereditary hemorrhagic telangiectasia [RCV001855056]|not provided [RCV000337491] Chr9:127818251..127818252 [GRCh38]
Chr9:130580530..130580531 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.712del (p.Val238fs) deletion not provided [RCV000345160] Chr9:127825335 [GRCh38]
Chr9:130587614 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.816G>A (p.Trp272Ter) single nucleotide variant Cardiovascular phenotype [RCV002418102]|Hereditary hemorrhagic telangiectasia [RCV003593947]|not provided [RCV000391772] Chr9:127825231 [GRCh38]
Chr9:130587510 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1711C>T (p.Arg571Cys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001053352]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002480006]|not provided [RCV000725125]|not specified [RCV000403112] Chr9:127817179 [GRCh38]
Chr9:130579458 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.880_881del (p.Asp294fs) deletion Hereditary hemorrhagic telangiectasia [RCV000793525]|not provided [RCV000407723] Chr9:127824910..127824911 [GRCh38]
Chr9:130587189..130587190 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.675G>A (p.Pro225=) single nucleotide variant Cardiovascular phenotype [RCV002367791]|Hereditary hemorrhagic telangiectasia [RCV000526893] Chr9:127825709 [GRCh38]
Chr9:130587988 [GRCh37]
Chr9:9q34.11		 benign|likely benign|uncertain significance
NM_001114753.3(ENG):c.223C>T (p.Pro75Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001368106] Chr9:127829824 [GRCh38]
Chr9:130592103 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1334del (p.Met445fs) deletion Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488464]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263064] Chr9:127818810 [GRCh38]
Chr9:130581089 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1742-22T>C single nucleotide variant Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488489] Chr9:127816075 [GRCh38]
Chr9:130578354 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1410del (p.Gln471fs) deletion Hereditary hemorrhagic telangiectasia [RCV000792337]|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488597] Chr9:127818734 [GRCh38]
Chr9:130581013 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.682_686del (p.Ser228fs) deletion Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488603] Chr9:127825698..127825702 [GRCh38]
Chr9:130587977..130587981 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1804del (p.Ile602fs) deletion Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488618] Chr9:127815991 [GRCh38]
Chr9:130578270 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.788T>A (p.Ile263Asn) single nucleotide variant Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488736]|not provided [RCV000757217] Chr9:127825259 [GRCh38]
Chr9:130587538 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
NM_001114753.3(ENG):c.1961C>G (p.Thr654Ser) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV003989110]|not specified [RCV000490183] Chr9:127815698 [GRCh38]
Chr9:130577977 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1853G>T (p.Arg618Leu) single nucleotide variant Pulmonary hypertension, primary, 1 [RCV000488791] Chr9:127815806 [GRCh38]
Chr9:130578085 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_000118.3(ENG):c.-395C>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000315016] Chr9:127854750 [GRCh38]
Chr9:130617029 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.98_101del (p.Gln33fs) deletion Hereditary hemorrhagic telangiectasia [RCV005091252]|not provided [RCV000520442] Chr9:127843212..127843215 [GRCh38]
Chr9:130605491..130605494 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.12:g.(?_127819616)_(127820043_?)del deletion Hereditary hemorrhagic telangiectasia [RCV000527587] Chr9:127819616..127820043 [GRCh38]
Chr9:130581895..130582322 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1311+1dup duplication Hereditary hemorrhagic telangiectasia [RCV002231260] Chr9:127819620..127819621 [GRCh38]
Chr9:130581899..130581900 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.-63C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593951]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000285725] Chr9:127854418 [GRCh38]
Chr9:130616697 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.736del (p.Asp246fs) deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262068]|not provided [RCV000522835] Chr9:127825311 [GRCh38]
Chr9:130587590 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.*150C>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000288876]|not provided [RCV004696111] Chr9:127815532 [GRCh38]
Chr9:130577811 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.*252C>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000290203] Chr9:127815430 [GRCh38]
Chr9:130577709 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-70del deletion Hereditary hemorrhagic telangiectasia [RCV003758758]|Juvenile Polyposis [RCV000405163]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000301503] Chr9:127854425 [GRCh38]
Chr9:130616704 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1525_1615dup (p.Val539delinsGlyProGlyGlyGlnGlyGlnLeuCysGluProAlaValProLysProArgGlyTer) duplication not provided [RCV000520127] Chr9:127818190..127818191 [GRCh38]
Chr9:130580469..130580470 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.583del (p.Glu195fs) deletion not provided [RCV000627556] Chr9:127825801 [GRCh38]
Chr9:130588080 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1687-1G>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001383868]|not provided [RCV000591904] Chr9:127817204 [GRCh38]
Chr9:130579483 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.595_596dup (p.Thr200fs) microsatellite ENG-related disorder [RCV004730991]|Hereditary hemorrhagic telangiectasia [RCV002232238]|not provided [RCV000598897] Chr9:127825787..127825788 [GRCh38]
Chr9:130588066..130588067 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1292C>A (p.Ser431Ter) single nucleotide variant Cardiovascular phenotype [RCV002384003]|Hereditary hemorrhagic telangiectasia [RCV003758805]|not provided [RCV000521330] Chr9:127819641 [GRCh38]
Chr9:130581920 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.896_991+90del deletion not provided [RCV000599106] Chr9:127824710..127824895 [GRCh38]
Chr9:130586989..130587174 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.469del (p.Thr157fs) deletion not provided [RCV000599310] Chr9:127826564 [GRCh38]
Chr9:130588843 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.229del (p.Gln77fs) deletion ENG-related disorder [RCV004730978]|Hereditary hemorrhagic telangiectasia [RCV002231264] Chr9:127829818 [GRCh38]
Chr9:130592097 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.507C>T (p.Leu169=) single nucleotide variant Cardiovascular phenotype [RCV004992402]|Hereditary hemorrhagic telangiectasia [RCV000871494]|not specified [RCV000599880] Chr9:127826526 [GRCh38]
Chr9:130588805 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys) single nucleotide variant Cardiovascular phenotype [RCV002418240]|ENG-related disorder [RCV003950330]|Hereditary hemorrhagic telangiectasia [RCV001034662]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000415646]|not provided [RCV000488039]|not specified [RCV001821144] Chr9:127854349 [GRCh38]
Chr9:130616628 [GRCh37]
Chr9:9q34.11		 benign|likely benign|uncertain significance
NM_001114753.3(ENG):c.690-2A>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001383205]|not provided [RCV000728561] Chr9:127825359 [GRCh38]
Chr9:130587638 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.219+23G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001002659]|not provided [RCV002264141] Chr9:127843071 [GRCh38]
Chr9:130605350 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.1220G>A (p.Ser407Asn) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002231258]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV005001990] Chr9:127819952 [GRCh38]
Chr9:130582231 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1699A>G (p.Thr567Ala) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002231032] Chr9:127817191 [GRCh38]
Chr9:130579470 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1389C>T (p.Ala463=) single nucleotide variant Cardiovascular phenotype [RCV002395313]|Hereditary hemorrhagic telangiectasia [RCV000540792]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001167009] Chr9:127818755 [GRCh38]
Chr9:130581034 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.7C>G (p.Arg3Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002231034] Chr9:127854349 [GRCh38]
Chr9:130616628 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001114753.3(ENG):c.732dup (p.Gly245fs) duplication not provided [RCV000522820] Chr9:127825314..127825315 [GRCh38]
Chr9:130587593..130587594 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)x1 copy number loss See cases [RCV000447376] Chr9:129079208..130851795 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3		 pathogenic
NM_001114753.3(ENG):c.1509del (p.Val504fs) deletion Cardiovascular phenotype [RCV002388194]|Hereditary hemorrhagic telangiectasia [RCV000685219] Chr9:127818297 [GRCh38]
Chr9:130580576 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1169G>A (p.Trp390Ter) single nucleotide variant Cardiovascular phenotype [RCV002331335]|ENG-related disorder [RCV003411600]|Hereditary hemorrhagic telangiectasia [RCV002233161] Chr9:127820003 [GRCh38]
Chr9:130582282 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1015G>A (p.Ala339Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000690797]|not provided [RCV001771949] Chr9:127824423 [GRCh38]
Chr9:130586702 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1434A>T (p.Arg478Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002233610] Chr9:127818372 [GRCh38]
Chr9:130580651 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1852+21C>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001201352]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000699684]|not specified [RCV004800544] Chr9:127815922 [GRCh38]
Chr9:130578201 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1014C>T (p.Pro338=) single nucleotide variant Cardiovascular phenotype [RCV002328972]|Hereditary hemorrhagic telangiectasia [RCV003114564]|not provided [RCV001704403] Chr9:127824424 [GRCh38]
Chr9:130586703 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1455G>A (p.Glu485=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001088945]|not provided [RCV000756085] Chr9:127818351 [GRCh38]
Chr9:130580630 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter) single nucleotide variant Cardiovascular phenotype [RCV002392990]|Hereditary hemorrhagic telangiectasia [RCV000808225]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002225104]|not provided [RCV000421678] Chr9:127818341 [GRCh38]
Chr9:130580620 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.244del (p.Leu82fs) deletion Hereditary hemorrhagic telangiectasia [RCV002231265] Chr9:127829803 [GRCh38]
Chr9:130592082 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1687-17C>T single nucleotide variant not specified [RCV000433072] Chr9:127817220 [GRCh38]
Chr9:130579499 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.291G>C (p.Leu97=) single nucleotide variant Cardiovascular phenotype [RCV004022404]|Hereditary hemorrhagic telangiectasia [RCV000469361]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001167065]|not specified [RCV000436996] Chr9:127829756 [GRCh38]
Chr9:130592035 [GRCh37]
Chr9:9q34.11		 likely benign
GRCh37/hg19 9q34.11(chr9:130390139-132760275)x1 copy number loss See cases [RCV000445837] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9q34.11(chr9:130616981-130636569)x3 copy number gain See cases [RCV000448729] Chr9:130616981..130636569 [GRCh37]
Chr9:9q34.11		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3		 pathogenic
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) single nucleotide variant Cardiovascular phenotype [RCV002379438]|Hereditary hemorrhagic telangiectasia [RCV000791420]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000462769]|not provided [RCV001531114] Chr9:127824800 [GRCh38]
Chr9:130587079 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.782G>T (p.Trp261Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002230339] Chr9:127825265 [GRCh38]
Chr9:130587544 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1311+6A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002230777] Chr9:127819616 [GRCh38]
Chr9:130581895 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-127C>T single nucleotide variant Cardiovascular phenotype [RCV002379437]|Hereditary hemorrhagic telangiectasia [RCV000463117]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262048]|not provided [RCV000756078] Chr9:127854482 [GRCh38]
Chr9:130616761 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1327del (p.Leu443fs) deletion Hereditary hemorrhagic telangiectasia [RCV000466746] Chr9:127818817 [GRCh38]
Chr9:130581096 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.895del (p.Leu299fs) deletion Cardiovascular phenotype [RCV002446937]|not provided [RCV000481830] Chr9:127824896 [GRCh38]
Chr9:130587175 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1199del (p.Gly400fs) deletion Hereditary hemorrhagic telangiectasia [RCV002230340]|not provided [RCV003480640] Chr9:127819973 [GRCh38]
Chr9:130582252 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130605373)_(130605524_?)dup duplication Telangiectasia, hereditary hemorrhagic, type 1 [RCV000463589] Chr9:127843094..127843245 [GRCh38]
Chr9:130605373..130605524 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1020G>A (p.Pro340=) single nucleotide variant ENG-related disorder [RCV004752905]|Hereditary hemorrhagic telangiectasia [RCV001456814] Chr9:127824418 [GRCh38]
Chr9:130586697 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.68-9C>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000463736] Chr9:127843254 [GRCh38]
Chr9:130605533 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.617G>C (p.Gly206Ala) single nucleotide variant Cardiovascular phenotype [RCV002356668]|Hereditary hemorrhagic telangiectasia [RCV000463780]|not provided [RCV000756080] Chr9:127825767 [GRCh38]
Chr9:130588046 [GRCh37]
Chr9:9q34.11		 benign|likely benign|uncertain significance
NM_001114753.3(ENG):c.1363_1364insC (p.Tyr455fs) insertion Hereditary hemorrhagic telangiectasia [RCV003758787]|not provided [RCV000482568] Chr9:127818780..127818781 [GRCh38]
Chr9:130581059..130581060 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1657del (p.Leu553fs) deletion Cardiovascular phenotype [RCV002402392]|Hereditary hemorrhagic telangiectasia [RCV002526559]|not provided [RCV000482934] Chr9:127818149 [GRCh38]
Chr9:130580428 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.-9G>A single nucleotide variant Cardiovascular phenotype [RCV002383874]|ENG-related disorder [RCV003925345]|Hereditary hemorrhagic telangiectasia [RCV001085762]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001000139]|not provided [RCV000460114]|not specified [RCV003230510] Chr9:127854364 [GRCh38]
Chr9:130616643 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001114753.3(ENG):c.595C>T (p.Arg199Cys) single nucleotide variant Cardiovascular phenotype [RCV004992232]|Hereditary hemorrhagic telangiectasia [RCV000460241]|not provided [RCV004718691] Chr9:127825789 [GRCh38]
Chr9:130588068 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.1098C>T (p.Asp366=) single nucleotide variant Cardiovascular phenotype [RCV002455868]|Hereditary hemorrhagic telangiectasia [RCV000471364]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001168719]|not provided [RCV001785621] Chr9:127824340 [GRCh38]
Chr9:130586619 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1447G>A (p.Val483Ile) single nucleotide variant ENG-related disorder [RCV003970317]|Hereditary hemorrhagic telangiectasia [RCV001084927]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV003640900] Chr9:127818359 [GRCh38]
Chr9:130580638 [GRCh37]
Chr9:9q34.11		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001114753.3(ENG):c.713T>A (p.Val238Glu) single nucleotide variant Cardiovascular phenotype [RCV002365627]|Hereditary hemorrhagic telangiectasia [RCV000460714]|not provided [RCV001753879] Chr9:127825334 [GRCh38]
Chr9:130587613 [GRCh37]
Chr9:9q34.11		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001114753.3(ENG):c.219G>A (p.Thr73=) single nucleotide variant Cardiovascular phenotype [RCV002429496]|ENG-related disorder [RCV004551519]|Hereditary hemorrhagic telangiectasia [RCV000468087]|See cases [RCV002225618]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV004000763]|not provided [RCV002275030]|not specified [RCV000507266] Chr9:127843094 [GRCh38]
Chr9:130605373 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001114753.3(ENG):c.1415_1424del (p.Gln472fs) deletion Hereditary hemorrhagic telangiectasia [RCV002230776] Chr9:127818720..127818729 [GRCh38]
Chr9:130580999..130581008 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.185T>A (p.Leu62His) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002230341] Chr9:127843128 [GRCh38]
Chr9:130605407 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1702G>A (p.Val568Ile) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003153610]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV005044667]|not provided [RCV002261089] Chr9:127817188 [GRCh38]
Chr9:130579467 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NC_000009.12:g.(?_127815012)_(127854773_?)del deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV000472176] Chr9:127815012..127854773 [GRCh38]
Chr9:130577291..130617052 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.722G>A (p.Ser241Asn) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002230775] Chr9:127825325 [GRCh38]
Chr9:130587604 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.715dup (p.Glu239fs) duplication Cardiovascular phenotype [RCV002365629]|Hereditary hemorrhagic telangiectasia [RCV000470200]|not provided [RCV000480513] Chr9:127825331..127825332 [GRCh38]
Chr9:130587610..130587611 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.360+5G>C single nucleotide variant Cardiovascular phenotype [RCV002451097]|Hereditary hemorrhagic telangiectasia [RCV002230779]|not provided [RCV000485643] Chr9:127829682 [GRCh38]
Chr9:130591961 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.715G>T (p.Glu239Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000526610]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002481510]|not provided [RCV000484671] Chr9:127825332 [GRCh38]
Chr9:130587611 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1121_1124del (p.Lys374fs) microsatellite Cardiovascular phenotype [RCV002436531]|Hereditary hemorrhagic telangiectasia [RCV000530282]|not provided [RCV000484786] Chr9:127824314..127824317 [GRCh38]
Chr9:130586593..130586596 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.589C>T (p.Arg197Trp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000464848]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002481415] Chr9:127825795 [GRCh38]
Chr9:130588074 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs) indel Hereditary hemorrhagic telangiectasia [RCV003153609]|not provided [RCV000786131] Chr9:127824378..127824409 [GRCh38]
Chr9:130586657..130586688 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.634G>A (p.Val212Met) single nucleotide variant Cardiovascular phenotype [RCV002365628]|Hereditary hemorrhagic telangiectasia [RCV000472454] Chr9:127825750 [GRCh38]
Chr9:130588029 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.374T>C (p.Val125Ala) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001299080]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002480332]|not specified [RCV000455548] Chr9:127826659 [GRCh38]
Chr9:130588938 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.12:g.(?_127819622)_(127820037_?)del deletion Hereditary hemorrhagic telangiectasia [RCV000457497] Chr9:127819622..127820037 [GRCh38]
Chr9:130581901..130582316 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1712G>A (p.Arg571His) single nucleotide variant Cardiovascular phenotype [RCV002402331]|ENG-related disorder [RCV004752906]|Hereditary hemorrhagic telangiectasia [RCV001081138]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262059]|not provided [RCV000834993]|not specified [RCV001821326] Chr9:127817178 [GRCh38]
Chr9:130579457 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|likely benign
NM_001114753.3(ENG):c.1780G>A (p.Gly594Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002230774]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000476556] Chr9:127816015 [GRCh38]
Chr9:130578294 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.179_180delinsAA (p.Ala60Glu) indel Cardiovascular phenotype [RCV002411535]|Hereditary hemorrhagic telangiectasia [RCV000465448]|not provided [RCV002225626] Chr9:127843133..127843134 [GRCh38]
Chr9:130605412..130605413 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.754A>T (p.Ile252Phe) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002230778] Chr9:127825293 [GRCh38]
Chr9:130587572 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.225G>A (p.Pro75=) single nucleotide variant Cardiovascular phenotype [RCV002446872]|Hereditary hemorrhagic telangiectasia [RCV001089137]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001167066]|not provided [RCV000757212] Chr9:127829822 [GRCh38]
Chr9:130592101 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.232C>T (p.Leu78=) single nucleotide variant Cardiovascular phenotype [RCV003168893]|Hereditary hemorrhagic telangiectasia [RCV001414346] Chr9:127829815 [GRCh38]
Chr9:130592094 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1A>G (p.Met1Val) single nucleotide variant Cardiovascular phenotype [RCV002418369]|Hereditary hemorrhagic telangiectasia [RCV002230780]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000469330]|not specified [RCV000508379] Chr9:127854355 [GRCh38]
Chr9:130616634 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.774C>T (p.Tyr258=) single nucleotide variant Cardiovascular phenotype [RCV004992251]|Hereditary hemorrhagic telangiectasia [RCV000472995] Chr9:127825273 [GRCh38]
Chr9:130587552 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.388C>T (p.Pro130Ser) single nucleotide variant Cardiovascular phenotype [RCV002367594]|ENG-related disorder [RCV003902675]|Hereditary hemorrhagic telangiectasia [RCV000473062]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001167064]|not provided [RCV003221999] Chr9:127826645 [GRCh38]
Chr9:130588924 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.904G>T (p.Glu302Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002230338]|not provided [RCV000756079] Chr9:127824887 [GRCh38]
Chr9:130587166 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.721_725del (p.Ser241fs) deletion Cardiovascular phenotype [RCV002376871]|ENG-related disorder [RCV004752908]|Hereditary hemorrhagic telangiectasia [RCV000693436]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001287654]|not provided [RCV000486392] Chr9:127825322..127825326 [GRCh38]
Chr9:130587601..130587605 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000458266]|not provided [RCV003151063] Chr9:127818160 [GRCh38]
Chr9:130580439 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.1446C>T (p.Ser482=) single nucleotide variant Cardiovascular phenotype [RCV002393192]|Hereditary hemorrhagic telangiectasia [RCV000465832]|not provided [RCV004584720] Chr9:127818360 [GRCh38]
Chr9:130580639 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.321_322delinsTT (p.His108Tyr) indel Cardiovascular phenotype [RCV002323702]|Hereditary hemorrhagic telangiectasia [RCV000473361]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002489031]|not specified [RCV000600129] Chr9:127829725..127829726 [GRCh38]
Chr9:130592004..130592005 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.706_708del (p.Val236del) deletion Hereditary hemorrhagic telangiectasia [RCV003593964]|not provided [RCV000478361] Chr9:127825339..127825341 [GRCh38]
Chr9:130587618..130587620 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
NM_001114753.3(ENG):c.524-2A>G single nucleotide variant Cardiovascular phenotype [RCV002348305]|ENG-related disorder [RCV003392278]|Hereditary hemorrhagic telangiectasia [RCV000458484]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001803764]|not provided [RCV001508635] Chr9:127825862 [GRCh38]
Chr9:130588141 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.999G>A (p.Arg333=) single nucleotide variant Cardiovascular phenotype [RCV002383873]|Hereditary hemorrhagic telangiectasia [RCV000473545] Chr9:127824439 [GRCh38]
Chr9:130586718 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1686+6T>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001030827]|Pulmonary arterial hypertension [RCV002285158]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000462533]|not provided [RCV000827113]|not specified [RCV001579783] Chr9:127818114 [GRCh38]
Chr9:130580393 [GRCh37]
Chr9:9q34.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NC_000009.12:g.(?_127843094)_(127843245_?)del deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV000462675] Chr9:127843094..127843245 [GRCh38]
Chr9:130605373..130605524 [GRCh37]
Chr9:9q34.11		 pathogenic
Single allele deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV000500418] Chr9:127815369..127843093 [GRCh38]
Chr9:130577648..130605372 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1084_1085del (p.Lys362fs) deletion Cardiovascular phenotype [RCV002431448]|Hereditary hemorrhagic telangiectasia [RCV002524092]|not provided [RCV000497970] Chr9:127824353..127824354 [GRCh38]
Chr9:130586632..130586633 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1047T>C (p.Thr349=) single nucleotide variant Cardiovascular phenotype [RCV004992289]|not specified [RCV000502845] Chr9:127824391 [GRCh38]
Chr9:130586670 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro) single nucleotide variant Cardiovascular phenotype [RCV002367686]|ENG-related disorder [RCV004551628]|Hereditary hemorrhagic telangiectasia [RCV000633131]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000500817]|not provided [RCV001565138] Chr9:127825722 [GRCh38]
Chr9:130588001 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.727G>A (p.Ala243Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001370738]|not specified [RCV000508217] Chr9:127825320 [GRCh38]
Chr9:130587599 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.524-30G>A single nucleotide variant not provided [RCV001571101]|not specified [RCV000508346] Chr9:127825890 [GRCh38]
Chr9:130588169 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.374T>A (p.Val125Asp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593974]|not provided [RCV000493483] Chr9:127826659 [GRCh38]
Chr9:130588938 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.526C>T (p.Gln176Ter) single nucleotide variant not provided [RCV000493872] Chr9:127825858 [GRCh38]
Chr9:130588137 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1195del (p.Arg399fs) deletion Cardiovascular phenotype [RCV002341166]|Hereditary hemorrhagic telangiectasia [RCV001206848]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000999934]|not provided [RCV000494014] Chr9:127819977 [GRCh38]
Chr9:130582256 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.781T>G (p.Trp261Gly) single nucleotide variant not specified [RCV000505853] Chr9:127825266 [GRCh38]
Chr9:130587545 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1195_1196del (p.Arg399fs) deletion ENG-related disorder [RCV003392321]|Hereditary hemorrhagic telangiectasia [RCV001385796]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001002195]|not provided [RCV000494067] Chr9:127819976..127819977 [GRCh38]
Chr9:130582255..130582256 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1273-5C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000558143]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001168715]|not specified [RCV000506008] Chr9:127819665 [GRCh38]
Chr9:130581944 [GRCh37]
Chr9:9q34.11		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001114753.3(ENG):c.1311+94A>G single nucleotide variant not provided [RCV001653870]|not specified [RCV000506311] Chr9:127819528 [GRCh38]
Chr9:130581807 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.1145G>A (p.Cys382Tyr) single nucleotide variant Cardiovascular phenotype [RCV002455955]|Hereditary hemorrhagic telangiectasia [RCV002524049]|not provided [RCV000494433] Chr9:127820027 [GRCh38]
Chr9:130582306 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter) single nucleotide variant Cardiovascular phenotype [RCV002383980]|Hereditary hemorrhagic telangiectasia [RCV001212134]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000512687]|not provided [RCV000506337] Chr9:127819627 [GRCh38]
Chr9:130581906 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1686+1G>A single nucleotide variant Cardiovascular phenotype [RCV002404320]|Hereditary hemorrhagic telangiectasia [RCV001049940]|not provided [RCV001786396]|not specified [RCV000506377] Chr9:127818119 [GRCh38]
Chr9:130580398 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.158G>C (p.Cys53Ser) single nucleotide variant not specified [RCV000506425] Chr9:127843155 [GRCh38]
Chr9:130605434 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-120G>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002056906]|not specified [RCV000506467] Chr9:127854475 [GRCh38]
Chr9:130616754 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1501G>T (p.Gly501Ter) single nucleotide variant not specified [RCV000506602] Chr9:127818305 [GRCh38]
Chr9:130580584 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.41T>C (p.Leu14Pro) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001377784]|not specified [RCV000506963] Chr9:127854315 [GRCh38]
Chr9:130616594 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1541del (p.Gly514fs) deletion Cardiovascular phenotype [RCV002404321]|Hereditary hemorrhagic telangiectasia [RCV002231189]|not specified [RCV000507131] Chr9:127818265 [GRCh38]
Chr9:130580544 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.752T>C (p.Leu251Pro) single nucleotide variant not specified [RCV000507165] Chr9:127825295 [GRCh38]
Chr9:130587574 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1686+76G>T single nucleotide variant not specified [RCV000507389] Chr9:127818044 [GRCh38]
Chr9:130580323 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.760C>T (p.Gln254Ter) single nucleotide variant not provided [RCV003480660]|not specified [RCV000507429] Chr9:127825287 [GRCh38]
Chr9:130587566 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.765del (p.Tyr258fs) deletion Hereditary hemorrhagic telangiectasia [RCV001035356]|not specified [RCV000507511] Chr9:127825282 [GRCh38]
Chr9:130587561 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1687-117G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000507621]|not provided [RCV000831742] Chr9:127817320 [GRCh38]
Chr9:130579599 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter) single nucleotide variant Cardiovascular phenotype [RCV002341195]|ENG-related disorder [RCV004730966]|Hereditary hemorrhagic telangiectasia [RCV000534162]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263082]|not provided [RCV000627219] Chr9:127826522 [GRCh38]
Chr9:130588801 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.-98G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005091137]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000507801] Chr9:127854453 [GRCh38]
Chr9:130616732 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.220-1G>A single nucleotide variant ENG-related disorder [RCV004730967]|Hereditary hemorrhagic telangiectasia [RCV001217385]|not specified [RCV000507915] Chr9:127829828 [GRCh38]
Chr9:130592107 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.991+58A>T single nucleotide variant not provided [RCV001709658]|not specified [RCV000508174] Chr9:127824742 [GRCh38]
Chr9:130587021 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.119del (p.Gly40fs) deletion Hereditary hemorrhagic telangiectasia [RCV002233364] Chr9:127843194 [GRCh38]
Chr9:130605473 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1A>C (p.Met1Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002232923] Chr9:127854355 [GRCh38]
Chr9:130616634 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.831C>A (p.Tyr277Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002232930]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002285403] Chr9:127824960 [GRCh38]
Chr9:130587239 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1429-2A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002232948] Chr9:127818379 [GRCh38]
Chr9:130580658 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1160T>C (p.Leu387Pro) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002233115]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV003989116] Chr9:127820012 [GRCh38]
Chr9:130582291 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.145G>T (p.Val49Phe) single nucleotide variant Cardiovascular phenotype [RCV002388247]|Hereditary hemorrhagic telangiectasia [RCV000693521]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001287705]|not provided [RCV001766490] Chr9:127843168 [GRCh38]
Chr9:130605447 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.991+2T>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002233635]|not provided [RCV001843954] Chr9:127824798 [GRCh38]
Chr9:130587077 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.130T>G (p.Tyr44Asp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000633128] Chr9:127843183 [GRCh38]
Chr9:130605462 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.224del (p.Pro75fs) deletion Cardiovascular phenotype [RCV003352949]|Hereditary hemorrhagic telangiectasia [RCV002233943]|not provided [RCV004791645] Chr9:127829823 [GRCh38]
Chr9:130592102 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.698C>T (p.Thr233Met) single nucleotide variant Cardiovascular phenotype [RCV004992425]|Hereditary hemorrhagic telangiectasia [RCV000633133] Chr9:127825349 [GRCh38]
Chr9:130587628 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.539C>T (p.Ser180Phe) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002233944] Chr9:127825845 [GRCh38]
Chr9:130588124 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1259T>C (p.Met420Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002233945] Chr9:127819913 [GRCh38]
Chr9:130582192 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.310A>G (p.Ser104Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002234423] Chr9:127829737 [GRCh38]
Chr9:130592016 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1067T>A (p.Met356Lys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000633143]|not provided [RCV001771854] Chr9:127824371 [GRCh38]
Chr9:130586650 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) single nucleotide variant Cardiovascular phenotype [RCV002385994]|Hereditary hemorrhagic telangiectasia [RCV000633145]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001285345]|not provided [RCV003480725] Chr9:127818825 [GRCh38]
Chr9:130581104 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.690-5C>T single nucleotide variant Cardiovascular phenotype [RCV004025424]|Hereditary hemorrhagic telangiectasia [RCV001438451]|not specified [RCV003479179] Chr9:127825362 [GRCh38]
Chr9:130587641 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.627G>A (p.Leu209=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002233950] Chr9:127825757 [GRCh38]
Chr9:130588036 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.348G>A (p.Leu116=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002233951] Chr9:127829699 [GRCh38]
Chr9:130591978 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.850G>A (p.Glu284Lys) single nucleotide variant Cardiovascular phenotype [RCV002413813]|Hereditary hemorrhagic telangiectasia [RCV000633165]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001165467]|not provided [RCV002292573] Chr9:127824941 [GRCh38]
Chr9:130587220 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1695T>C (p.His565=) single nucleotide variant Cardiovascular phenotype [RCV002413814]|Hereditary hemorrhagic telangiectasia [RCV000633166]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001166477] Chr9:127817195 [GRCh38]
Chr9:130579474 [GRCh37]
Chr9:9q34.11		 benign|likely benign|uncertain significance
NM_001114753.3(ENG):c.2T>G (p.Met1Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002231266]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV003989113]|not provided [RCV000579346] Chr9:127854354 [GRCh38]
Chr9:130616633 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.816+6T>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001858050]|Systemic lupus erythematosus [RCV000538320] Chr9:127825225 [GRCh38]
Chr9:130587504 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
NM_001114753.3(ENG):c.1056G>A (p.Pro352=) single nucleotide variant Cardiovascular phenotype [RCV002413465]|Hereditary hemorrhagic telangiectasia [RCV000542117] Chr9:127824382 [GRCh38]
Chr9:130586661 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1428+2T>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002231262] Chr9:127818714 [GRCh38]
Chr9:130580993 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
NM_001114753.3(ENG):c.1326C>A (p.Cys442Ter) single nucleotide variant Cardiovascular phenotype [RCV002384020]|Hereditary hemorrhagic telangiectasia [RCV001219462]|not provided [RCV000523118] Chr9:127818818 [GRCh38]
Chr9:130581097 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.904dup (p.Glu302fs) duplication Cardiovascular phenotype [RCV002377026]|Hereditary hemorrhagic telangiectasia [RCV002231271] Chr9:127824886..127824887 [GRCh38]
Chr9:130587165..130587166 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.408del (p.Glu137fs) deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV000614819] Chr9:127826625 [GRCh38]
Chr9:130588904 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.782G>A (p.Trp261Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002231033] Chr9:127825265 [GRCh38]
Chr9:130587544 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.396_397delinsAA (p.Val133Ile) indel Hereditary hemorrhagic telangiectasia [RCV002231268] Chr9:127826636..127826637 [GRCh38]
Chr9:130588915..130588916 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.219+3G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002233941] Chr9:127843091 [GRCh38]
Chr9:130605370 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.217A>G (p.Thr73Ala) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002233942] Chr9:127843096 [GRCh38]
Chr9:130605375 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.911G>A (p.Arg304Gln) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000633132]|not provided [RCV003480724] Chr9:127824880 [GRCh38]
Chr9:130587159 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1408G>C (p.Gly470Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002234419] Chr9:127818736 [GRCh38]
Chr9:130581015 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.920dup (p.Asn307fs) duplication Cerebral arteriovenous malformation [RCV000656327]|Hereditary hemorrhagic telangiectasia [RCV002536312] Chr9:127824870..127824871 [GRCh38]
Chr9:130587149..130587150 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1441C>T (p.Pro481Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002234420] Chr9:127818365 [GRCh38]
Chr9:130580644 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1024C>T (p.Gln342Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002234421] Chr9:127824414 [GRCh38]
Chr9:130586693 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1844C>G (p.Ser615Trp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000633140] Chr9:127815951 [GRCh38]
Chr9:130578230 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1036C>T (p.Pro346Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002233946] Chr9:127824402 [GRCh38]
Chr9:130586681 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1394dup (p.Asn465fs) duplication Hereditary hemorrhagic telangiectasia [RCV002233949] Chr9:127818749..127818750 [GRCh38]
Chr9:130581028..130581029 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.683C>A (p.Ser228Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002234425] Chr9:127825701 [GRCh38]
Chr9:130587980 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1686+8G>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001428638] Chr9:127818112 [GRCh38]
Chr9:130580391 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1286dup (p.Leu430fs) duplication Hereditary hemorrhagic telangiectasia [RCV002231259] Chr9:127819646..127819647 [GRCh38]
Chr9:130581925..130581926 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys) single nucleotide variant Cardiovascular phenotype [RCV002367789]|Hereditary hemorrhagic telangiectasia [RCV000791352]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000559765] Chr9:127843192 [GRCh38]
Chr9:130605471 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.690-1G>A single nucleotide variant Cardiovascular phenotype [RCV002377025]|Hereditary hemorrhagic telangiectasia [RCV002231270] Chr9:127825358 [GRCh38]
Chr9:130587637 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1133C>T (p.Ala378Val) single nucleotide variant Cardiovascular phenotype [RCV002323930]|Hereditary hemorrhagic telangiectasia [RCV000791431]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000559991] Chr9:127824305 [GRCh38]
Chr9:130586584 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.863G>A (p.Arg288His) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000554722]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV005044798] Chr9:127824928 [GRCh38]
Chr9:130587207 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1742-15G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001854136]|not specified [RCV000616653] Chr9:127816068 [GRCh38]
Chr9:130578347 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1719dup (p.Ile574fs) duplication not provided [RCV000627583] Chr9:127817170..127817171 [GRCh38]
Chr9:130579449..130579450 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1583del (p.Pro528fs) deletion Oral cavity telangiectasia [RCV000626751] Chr9:127818223 [GRCh38]
Chr9:130580502 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1469T>C (p.Leu490Ser) single nucleotide variant Cardiovascular phenotype [RCV002395314]|Hereditary hemorrhagic telangiectasia [RCV000539445] Chr9:127818337 [GRCh38]
Chr9:130580616 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.312T>C (p.Ser104=) single nucleotide variant Cardiovascular phenotype [RCV003278245] Chr9:127829735 [GRCh38]
Chr9:130592014 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.524-12G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002062872]|not specified [RCV000609051] Chr9:127825872 [GRCh38]
Chr9:130588151 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.1425G>T (p.Val475=) single nucleotide variant not specified [RCV000603828] Chr9:127818719 [GRCh38]
Chr9:130580998 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1015_1024del (p.Ala339fs) deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV000535261] Chr9:127824414..127824423 [GRCh38]
Chr9:130586693..130586702 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1419C>G (p.Ser473Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002568459]|not provided [RCV001571156] Chr9:127818725 [GRCh38]
Chr9:130581004 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_130586563)_(130592126_?)dup duplication Telangiectasia, hereditary hemorrhagic, type 1 [RCV000542305] Chr9:127824284..127829847 [GRCh38]
Chr9:130586563..130592126 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.69T>C (p.Ser23=) single nucleotide variant Cardiovascular phenotype [RCV004023784]|Hereditary hemorrhagic telangiectasia [RCV000547473] Chr9:127843244 [GRCh38]
Chr9:130605523 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.1682A>C (p.Asp561Ala) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002234422] Chr9:127818124 [GRCh38]
Chr9:130580403 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1415_1417delinsGT (p.Gln472fs) indel Hereditary hemorrhagic telangiectasia [RCV002528861] Chr9:127818727..127818729 [GRCh38]
Chr9:130581006..130581008 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1351C>T (p.Gln451Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002233947] Chr9:127818793 [GRCh38]
Chr9:130581072 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.360C>T (p.Tyr120=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002233948]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000633148]|not provided [RCV004691966] Chr9:127829687 [GRCh38]
Chr9:130591966 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.673C>G (p.Pro225Ala) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002234424] Chr9:127825711 [GRCh38]
Chr9:130587990 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.817-8A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001493879] Chr9:127824982 [GRCh38]
Chr9:130587261 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.234G>A (p.Leu78=) single nucleotide variant Cardiovascular phenotype [RCV002448950]|Hereditary hemorrhagic telangiectasia [RCV001087178]|not provided [RCV000757211] Chr9:127829813 [GRCh38]
Chr9:130592092 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.1770C>T (p.Pro590=) single nucleotide variant Cardiovascular phenotype [RCV002413812]|Hereditary hemorrhagic telangiectasia [RCV000633157] Chr9:127816025 [GRCh38]
Chr9:130578304 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1671C>T (p.Thr557=) single nucleotide variant Cardiovascular phenotype [RCV003302997]|ENG-related disorder [RCV003980222]|Hereditary hemorrhagic telangiectasia [RCV002234426] Chr9:127818135 [GRCh38]
Chr9:130580414 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.741C>T (p.Leu247=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001471426] Chr9:127825306 [GRCh38]
Chr9:130587585 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1293G>A (p.Ser431=) single nucleotide variant Cardiovascular phenotype [RCV002385995]|Hereditary hemorrhagic telangiectasia [RCV000633160] Chr9:127819640 [GRCh38]
Chr9:130581919 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.954G>A (p.Pro318=) single nucleotide variant Cardiovascular phenotype [RCV002377365]|Hereditary hemorrhagic telangiectasia [RCV000633162]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001169486]|not provided [RCV001815357] Chr9:127824837 [GRCh38]
Chr9:130587116 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1698G>A (p.Arg566=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000633167] Chr9:127817192 [GRCh38]
Chr9:130579471 [GRCh37]
Chr9:9q34.11		 likely benign
NC_000009.12:g.(?_127815662)_(127820057_?)del deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV000633168] Chr9:127815662..127820057 [GRCh38]
Chr9:130577941..130582336 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.816+1G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005054202] Chr9:127825230 [GRCh38]
Chr9:130587509 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1479C>A (p.Cys493Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005054203] Chr9:127818327 [GRCh38]
Chr9:130580606 [GRCh37]
Chr9:9q34.11		 likely pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001114753.3(ENG):c.991+2T>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV003485873] Chr9:127824798 [GRCh38]
Chr9:130587077 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.68-4A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002232870] Chr9:127843249 [GRCh38]
Chr9:130605528 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.614G>A (p.Arg205Gln) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002233553] Chr9:127825770 [GRCh38]
Chr9:130588049 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.817-1G>C single nucleotide variant Cardiovascular phenotype [RCV002424652]|Hereditary hemorrhagic telangiectasia [RCV000694887]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001285575] Chr9:127824975 [GRCh38]
Chr9:130587254 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1335G>A (p.Met445Ile) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000696353]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV005046949] Chr9:127818809 [GRCh38]
Chr9:130581088 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1515dup (p.Leu506fs) duplication Hereditary hemorrhagic telangiectasia [RCV002233337] Chr9:127818290..127818291 [GRCh38]
Chr9:130580569..130580570 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1721TCA[1] (p.Ile575del) microsatellite Hereditary hemorrhagic telangiectasia [RCV002233346] Chr9:127817164..127817166 [GRCh38]
Chr9:130579443..130579445 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.12:g.(?_127824284)_(127824994_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001377348]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000708198] Chr9:127824284..127824994 [GRCh38]
Chr9:130586563..130587273 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.581_592del (p.Leu194_Arg197del) deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV000664305] Chr9:127825792..127825803 [GRCh38]
Chr9:130588071..130588082 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.911_918del (p.Arg304fs) deletion Hereditary hemorrhagic telangiectasia [RCV002233393] Chr9:127824873..127824880 [GRCh38]
Chr9:130587152..130587159 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.12:g.(?_127854269)_(127854482_?)del deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV000708138] Chr9:127854269..127854482 [GRCh38]
Chr9:130616548..130616761 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.23T>C (p.Leu8Pro) single nucleotide variant Cardiovascular phenotype [RCV002442411]|Hereditary hemorrhagic telangiectasia [RCV002232818]|not provided [RCV004792371] Chr9:127854333 [GRCh38]
Chr9:130616612 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1311G>T (p.Arg437=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000686208] Chr9:127819622 [GRCh38]
Chr9:130581901 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.112G>A (p.Glu38Lys) single nucleotide variant Cardiovascular phenotype [RCV004993949]|Hereditary hemorrhagic telangiectasia [RCV000688648]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001169536] Chr9:127843201 [GRCh38]
Chr9:130605480 [GRCh37]
Chr9:9q34.11		 benign|likely benign|uncertain significance
NM_001114753.3(ENG):c.1313A>G (p.Lys438Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000689561]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002507197] Chr9:127818831 [GRCh38]
Chr9:130581110 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1236_1687-77del deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV000692918] Chr9:127817280..127819936 [GRCh38]
Chr9:130579559..130582215 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_000118.3(ENG):c.1687delG deletion Cardiovascular phenotype [RCV002463727]|ENG-related disorder [RCV004753000]|Hereditary hemorrhagic telangiectasia [RCV000703950] Chr9:127817203 [GRCh38]
Chr9:130579482 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1268del (p.Asn423fs) deletion Cardiovascular phenotype [RCV002369965]|Hereditary hemorrhagic telangiectasia [RCV000705970] Chr9:127819904 [GRCh38]
Chr9:130582183 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.583G>C (p.Glu195Gln) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002233443] Chr9:127825801 [GRCh38]
Chr9:130588080 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys) single nucleotide variant Cardiovascular phenotype [RCV002397490]|Hereditary hemorrhagic telangiectasia [RCV000707407]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001000404]|not provided [RCV001840729]|not specified [RCV001816740] Chr9:127818221 [GRCh38]
Chr9:130580500 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.805A>G (p.Met269Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002233723]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002493252] Chr9:127825242 [GRCh38]
Chr9:130587521 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.572del (p.Gly191fs) deletion Hereditary hemorrhagic telangiectasia [RCV002233447] Chr9:127825812 [GRCh38]
Chr9:130588091 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.88T>A (p.Cys30Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000707597] Chr9:127843225 [GRCh38]
Chr9:130605504 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1252G>C (p.Ala418Pro) single nucleotide variant Cardiovascular phenotype [RCV003303199]|Hereditary hemorrhagic telangiectasia [RCV002233724] Chr9:127819920 [GRCh38]
Chr9:130582199 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NC_000009.12:g.(?_127819612)_(127820047_?)del deletion Hereditary hemorrhagic telangiectasia [RCV000708067] Chr9:127819612..127820047 [GRCh38]
Chr9:130581891..130582326 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1406C>T (p.Pro469Leu) single nucleotide variant Cardiovascular phenotype [RCV003380675]|Hereditary hemorrhagic telangiectasia [RCV002232856] Chr9:127818738 [GRCh38]
Chr9:130581017 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1428+5C>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002233661] Chr9:127818711 [GRCh38]
Chr9:130580990 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1726A>G (p.Ser576Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000706057] Chr9:127817164 [GRCh38]
Chr9:130579443 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.12:g.(?_127824284)_(127854482_?)del deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV000707741] Chr9:127824284..127854482 [GRCh38]
Chr9:130586563..130616761 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.12:g.(?_127824284)_(127829847_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001377347]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000708229] Chr9:127824284..127829847 [GRCh38]
Chr9:130586563..130592126 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.68-3C>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002233171] Chr9:127843248 [GRCh38]
Chr9:130605527 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.884C>T (p.Thr295Ile) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000692398] Chr9:127824907 [GRCh38]
Chr9:130587186 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs) microsatellite Cardiovascular phenotype [RCV002388311]|Hereditary hemorrhagic telangiectasia [RCV000701307]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001803945]|not provided [RCV002275142] Chr9:127818371..127818372 [GRCh38]
Chr9:130580650..130580651 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.733G>A (p.Gly245Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000707190] Chr9:127825314 [GRCh38]
Chr9:130587593 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.621C>A (p.Cys207Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002233534] Chr9:127825763 [GRCh38]
Chr9:130588042 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1346_1347del (p.Ser449fs) microsatellite Cardiovascular phenotype [RCV002386207]|Hereditary hemorrhagic telangiectasia [RCV002233257]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV005049661]|not provided [RCV001507759] Chr9:127818797..127818798 [GRCh38]
Chr9:130581076..130581077 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.680A>G (p.His227Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002233574]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002499244] Chr9:127825704 [GRCh38]
Chr9:130587983 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.839A>G (p.Lys280Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002233320] Chr9:127824952 [GRCh38]
Chr9:130587231 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.991+26_991+27insCCCCTC microsatellite Hereditary hemorrhagic telangiectasia type 1 [RCV001000314] Chr9:127824773..127824774 [GRCh38]
Chr9:130587052..130587053 [GRCh37]
Chr9:9q34.11		 benign
NC_000009.12:g.(?_127612384)_(128566997_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000819894]|Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV001387712] Chr9:127612384..128566997 [GRCh38]
Chr9:130374663..131329276 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1 copy number loss not provided [RCV000748671] Chr9:129370440..133866894 [GRCh37]
Chr9:9q33.3-34.12		 pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129522693-131410039)x1 copy number loss not provided [RCV000748677] Chr9:129522693..131410039 [GRCh37]
Chr9:9q33.3-34.11		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001114753.3(ENG):c.195T>C (p.His65=) single nucleotide variant not provided [RCV000937692] Chr9:127843118 [GRCh38]
Chr9:130605397 [GRCh37]
Chr9:9q34.11		 likely benign
NC_000009.12:g.127854979T>G single nucleotide variant not provided [RCV001644364] Chr9:127854979 [GRCh38]
Chr9:130617258 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.1734C>G (p.Asp578Glu) single nucleotide variant Pulmonary arterial hypertension [RCV001003748] Chr9:127817156 [GRCh38]
Chr9:130579435 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.726C>A (p.Cys242Ter) single nucleotide variant not provided [RCV000760356] Chr9:127825321 [GRCh38]
Chr9:130587600 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.12:g.(?_127815672)_(127854482_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001032270] Chr9:130577951..130616761 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.12:g.(?_127824294)_(127825367_?)dup duplication Hereditary hemorrhagic telangiectasia [RCV001031979] Chr9:130586573..130587646 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.780_789dup (p.Asp264fs) duplication Telangiectasia, hereditary hemorrhagic, type 1 [RCV000790624] Chr9:127825257..127825258 [GRCh38]
Chr9:130587536..130587537 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.-90G>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002557418]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001165530] Chr9:127854445 [GRCh38]
Chr9:130616724 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp) single nucleotide variant Cardiovascular phenotype [RCV002397524]|Hereditary hemorrhagic telangiectasia [RCV003594025]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262053]|not provided [RCV000756077] Chr9:127843158 [GRCh38]
Chr9:130605437 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NC_000009.12:g.(?_127815907)_(127854365_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001031527] Chr9:130578186..130616644 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.-249C>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001167128] Chr9:127854604 [GRCh38]
Chr9:130616883 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1390T>A (p.Ser464Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001210725] Chr9:127818754 [GRCh38]
Chr9:130581033 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.*530T>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001166405] Chr9:127815152 [GRCh38]
Chr9:130577431 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1273-15_1273-8dup duplication not provided [RCV000900563] Chr9:127819667..127819668 [GRCh38]
Chr9:130581946..130581947 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.180C>A (p.Ala60=) single nucleotide variant Cardiovascular phenotype [RCV002409157]|Hereditary hemorrhagic telangiectasia [RCV000902350] Chr9:127843133 [GRCh38]
Chr9:130605412 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.1818C>A (p.Leu606=) single nucleotide variant not provided [RCV000924714] Chr9:127815977 [GRCh38]
Chr9:130578256 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.523+10C>T single nucleotide variant not provided [RCV000865273] Chr9:127826500 [GRCh38]
Chr9:130588779 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.992-6C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001408686] Chr9:127824452 [GRCh38]
Chr9:130586731 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.579G>A (p.Thr193=) single nucleotide variant Cardiovascular phenotype [RCV002352570]|Hereditary hemorrhagic telangiectasia [RCV000870167] Chr9:127825805 [GRCh38]
Chr9:130588084 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1134+9A>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001476775]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV003640941] Chr9:127824295 [GRCh38]
Chr9:130586574 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1135-8C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000866966]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001168718] Chr9:127820045 [GRCh38]
Chr9:130582324 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu) single nucleotide variant ENG-related disorder [RCV003983196]|Hereditary hemorrhagic telangiectasia [RCV002533781]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262049]|not provided [RCV000756076] Chr9:127824419 [GRCh38]
Chr9:130586698 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1429-9C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001443081] Chr9:127818386 [GRCh38]
Chr9:130580665 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1632C>T (p.Thr544=) single nucleotide variant Cardiovascular phenotype [RCV003307590]|Hereditary hemorrhagic telangiectasia [RCV000863255] Chr9:127818174 [GRCh38]
Chr9:130580453 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1437G>A (p.Val479=) single nucleotide variant Cardiovascular phenotype [RCV002390766]|Hereditary hemorrhagic telangiectasia [RCV001452403] Chr9:127818369 [GRCh38]
Chr9:130580648 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1302A>G (p.Ser434=) single nucleotide variant Cardiovascular phenotype [RCV004994078]|Hereditary hemorrhagic telangiectasia [RCV001393912] Chr9:127819631 [GRCh38]
Chr9:130581910 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1761C>T (p.Leu587=) single nucleotide variant Cardiovascular phenotype [RCV002409118]|Hereditary hemorrhagic telangiectasia [RCV001523631] Chr9:127816034 [GRCh38]
Chr9:130578313 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.996T>C (p.Gly332=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001483297] Chr9:127824442 [GRCh38]
Chr9:130586721 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser) single nucleotide variant Cardiovascular phenotype [RCV002348428]|Hereditary hemorrhagic telangiectasia [RCV001058168]|not specified [RCV001819781] Chr9:127819964 [GRCh38]
Chr9:130582243 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.1470dup (p.Asp491fs) duplication Cardiovascular phenotype [RCV002393333]|Hereditary hemorrhagic telangiectasia [RCV001069205]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001803223]|not provided [RCV001585973] Chr9:127818335..127818336 [GRCh38]
Chr9:130580614..130580615 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.413T>C (p.Leu138Pro) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001061472] Chr9:127826620 [GRCh38]
Chr9:130588899 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.160G>A (p.Val54Met) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001062405] Chr9:127843153 [GRCh38]
Chr9:130605432 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1759C>T (p.Leu587Phe) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001069381]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001166476] Chr9:127816036 [GRCh38]
Chr9:130578315 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.618C>A (p.Gly206=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001287269] Chr9:127825766 [GRCh38]
Chr9:130588045 [GRCh37]
Chr9:9q34.11		 likely benign
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs) deletion Hereditary hemorrhagic telangiectasia [RCV001041801]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001286214]|not provided [RCV003480915] Chr9:127817191..127817201 [GRCh38]
Chr9:130579470..130579480 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.12:g.(?_127843084)_(127843255_?)dup duplication Hereditary hemorrhagic telangiectasia [RCV001033385] Chr9:130605363..130605534 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.12:g.(?_127815917)_(127854482_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001033595] Chr9:130578196..130616761 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.627G>C (p.Leu209Phe) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001059162] Chr9:127825757 [GRCh38]
Chr9:130588036 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.1490T>A (p.Leu497Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001059287] Chr9:127818316 [GRCh38]
Chr9:130580595 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1236T>A (p.Cys412Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001052196] Chr9:127819936 [GRCh38]
Chr9:130582215 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1311G>A (p.Arg437=) single nucleotide variant Cardiovascular phenotype [RCV002379579]|Hereditary hemorrhagic telangiectasia [RCV001059848]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001286216] Chr9:127819622 [GRCh38]
Chr9:130581901 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.587G>A (p.Trp196Ter) single nucleotide variant Cardiovascular phenotype [RCV002352402]|ENG-related disorder [RCV004731040]|Hereditary hemorrhagic telangiectasia [RCV000810183]|not provided [RCV004702439] Chr9:127825797 [GRCh38]
Chr9:130588076 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp) single nucleotide variant Cardiovascular phenotype [RCV002363083]|ENG-related disorder [RCV004753049]|Hereditary hemorrhagic telangiectasia [RCV000808290]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001001189] Chr9:127825353 [GRCh38]
Chr9:130587632 [GRCh37]
Chr9:9q34.11		 benign|likely benign|uncertain significance
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001114753.3(ENG):c.743del (p.Asp248fs) deletion Cardiovascular phenotype [RCV002386384]|Hereditary hemorrhagic telangiectasia [RCV000793316]|not provided [RCV003480823] Chr9:127825304 [GRCh38]
Chr9:130587583 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.456G>A (p.Glu152=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001402860] Chr9:127826577 [GRCh38]
Chr9:130588856 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1299A>G (p.Ser433=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001452415] Chr9:127819634 [GRCh38]
Chr9:130581913 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1323C>T (p.His441=) single nucleotide variant Cardiovascular phenotype [RCV003307659]|Hereditary hemorrhagic telangiectasia [RCV000878774]|not specified [RCV003489955] Chr9:127818821 [GRCh38]
Chr9:130581100 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.306C>T (p.Asn102=) single nucleotide variant Cardiovascular phenotype [RCV002442832]|Hereditary hemorrhagic telangiectasia [RCV000867682] Chr9:127829741 [GRCh38]
Chr9:130592020 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.179C>A (p.Ala60Asp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000902351]|not provided [RCV001358245] Chr9:127843134 [GRCh38]
Chr9:130605413 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.67+7G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001461255] Chr9:127854282 [GRCh38]
Chr9:130616561 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.690-4G>A single nucleotide variant Cardiovascular phenotype [RCV004027709]|Hereditary hemorrhagic telangiectasia [RCV000868025] Chr9:127825361 [GRCh38]
Chr9:130587640 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1088G>C (p.Cys363Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000819037] Chr9:127824350 [GRCh38]
Chr9:130586629 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.534_536del (p.Leu179del) deletion Hereditary hemorrhagic telangiectasia [RCV000809799] Chr9:127825848..127825850 [GRCh38]
Chr9:130588127..130588129 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1311+178T>C single nucleotide variant not provided [RCV000831741] Chr9:127819444 [GRCh38]
Chr9:130581723 [GRCh37]
Chr9:9q34.11		 benign
NC_000009.12:g.127817320C>T single nucleotide variant not provided [RCV000831742] Chr9:130579599 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.1742-72T>C single nucleotide variant not provided [RCV000831743] Chr9:127816125 [GRCh38]
Chr9:130578404 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.776del (p.Val259fs) deletion Cardiovascular phenotype [RCV002406773]|Hereditary hemorrhagic telangiectasia [RCV000801178] Chr9:127825271 [GRCh38]
Chr9:130587550 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.689+1G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000819340]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262066] Chr9:127825694 [GRCh38]
Chr9:130587973 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.992-2A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000821165]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263085]|not provided [RCV001664441] Chr9:127824448 [GRCh38]
Chr9:130586727 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.983_984delinsAG (p.Ser328Ter) indel Hereditary hemorrhagic telangiectasia [RCV000823308] Chr9:127824807..127824808 [GRCh38]
Chr9:130587086..130587087 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1110G>A (p.Leu370=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000797353] Chr9:127824328 [GRCh38]
Chr9:130586607 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.219+259dup duplication not provided [RCV000831947] Chr9:127842834..127842835 [GRCh38]
Chr9:130605113..130605114 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.68-215T>C single nucleotide variant not provided [RCV000836026] Chr9:127843460 [GRCh38]
Chr9:130605739 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.1453G>T (p.Glu485Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000819516] Chr9:127818353 [GRCh38]
Chr9:130580632 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.12:g.(?_127819602)_(127820057_?)del deletion Hereditary hemorrhagic telangiectasia [RCV000822556] Chr9:127819602..127820057 [GRCh38]
Chr9:130581881..130582336 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1154C>T (p.Thr385Met) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000814253] Chr9:127820018 [GRCh38]
Chr9:130582297 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NC_000009.12:g.127843069C>A single nucleotide variant not provided [RCV000832627] Chr9:130605348 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.397del (p.Val133fs) deletion Hereditary hemorrhagic telangiectasia [RCV000821650]|not provided [RCV004697009] Chr9:127826636 [GRCh38]
Chr9:130588915 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.-8_8del (p.Met1fs) deletion Hereditary hemorrhagic telangiectasia [RCV000814719] Chr9:127854348..127854363 [GRCh38]
Chr9:130616627..130616642 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.990C>T (p.Cys330=) single nucleotide variant Cardiovascular phenotype [RCV002381848]|ENG-related disorder [RCV003965602]|Hereditary hemorrhagic telangiectasia [RCV000818374] Chr9:127824801 [GRCh38]
Chr9:130587080 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000795117]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001002467]|not provided [RCV004721607] Chr9:127826510 [GRCh38]
Chr9:130588789 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.991+2T>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000820521] Chr9:127824798 [GRCh38]
Chr9:130587077 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1312-189A>C single nucleotide variant not provided [RCV000835440] Chr9:127819021 [GRCh38]
Chr9:130581300 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.575G>A (p.Arg192His) single nucleotide variant Cardiovascular phenotype [RCV002345775]|Hereditary hemorrhagic telangiectasia [RCV000799001] Chr9:127825809 [GRCh38]
Chr9:130588088 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.771del (p.Tyr258fs) deletion Cardiovascular phenotype [RCV002397682]|Hereditary hemorrhagic telangiectasia [RCV000813454]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002470989] Chr9:127825276 [GRCh38]
Chr9:130587555 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.229C>T (p.Gln77Ter) single nucleotide variant Cardiovascular phenotype [RCV002453812]|Hereditary hemorrhagic telangiectasia [RCV000807334] Chr9:127829818 [GRCh38]
Chr9:130592097 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1274C>A (p.Ala425Glu) single nucleotide variant Cardiovascular phenotype [RCV003279087]|Hereditary hemorrhagic telangiectasia [RCV000807687] Chr9:127819659 [GRCh38]
Chr9:130581938 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.166C>T (p.Gln56Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000817651]|See cases [RCV004797881]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262058]|not provided [RCV003480867] Chr9:127843147 [GRCh38]
Chr9:130605426 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.314T>A (p.Val105Asp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000824049] Chr9:127829733 [GRCh38]
Chr9:130592012 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
NM_001114753.3(ENG):c.806T>C (p.Met269Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000801902] Chr9:127825241 [GRCh38]
Chr9:130587520 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.12:g.127818114A>C single nucleotide variant not provided [RCV000827113] Chr9:130580393 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1166_1168del (p.Phe389del) deletion Cardiovascular phenotype [RCV002332587]|Hereditary hemorrhagic telangiectasia [RCV000792733]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262050] Chr9:127820004..127820006 [GRCh38]
Chr9:130582283..130582285 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.*109C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001166942] Chr9:127815573 [GRCh38]
Chr9:130577852 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1852+42C>T single nucleotide variant ENG-related disorder [RCV003973123]|Hereditary hemorrhagic telangiectasia [RCV001297217]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001169422] Chr9:127815901 [GRCh38]
Chr9:130578180 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NC_000009.12:g.(?_127854279)_(127854482_?)del deletion Hereditary hemorrhagic telangiectasia [RCV000805918] Chr9:127854279..127854482 [GRCh38]
Chr9:130616558..130616761 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.9C>T (p.Arg3=) single nucleotide variant Cardiovascular phenotype [RCV002379667]|Hereditary hemorrhagic telangiectasia [RCV001478507]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001169538] Chr9:127854347 [GRCh38]
Chr9:130616626 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1876G>A (p.Val626Met) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001168656] Chr9:127815783 [GRCh38]
Chr9:130578062 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.766C>T (p.Pro256Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001859063]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001165468] Chr9:127825281 [GRCh38]
Chr9:130587560 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1853-9C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001168657] Chr9:127815815 [GRCh38]
Chr9:130578094 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_130216797)_(130953151_?)dup duplication Congenital muscular dystrophy with intellectual disability and severe epilepsy [RCV000821291] Chr9:127454518..128190872 [GRCh38]
Chr9:130216797..130953151 [GRCh37]
Chr9:9q33.3-34.11		 uncertain significance
NM_001114753.3(ENG):c.1684C>T (p.Gln562Ter) single nucleotide variant Cardiovascular phenotype [RCV002397646]|Hereditary hemorrhagic telangiectasia [RCV000806747] Chr9:127818122 [GRCh38]
Chr9:130580401 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.593C>T (p.Pro198Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000806955] Chr9:127825791 [GRCh38]
Chr9:130588070 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.*449C>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001166407] Chr9:127815233 [GRCh38]
Chr9:130577512 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr) single nucleotide variant Cardiovascular phenotype [RCV002360987]|Hereditary hemorrhagic telangiectasia [RCV000807195]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001254073] Chr9:127825725 [GRCh38]
Chr9:130588004 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.943G>A (p.Val315Met) single nucleotide variant Cardiovascular phenotype [RCV002445377]|Hereditary hemorrhagic telangiectasia [RCV001873450]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV003640954]|not provided [RCV004792717] Chr9:127824848 [GRCh38]
Chr9:130587127 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.1247dup (p.Ser417fs) duplication ENG-related disorder [RCV004731034]|Hereditary hemorrhagic telangiectasia [RCV000796406] Chr9:127819924..127819925 [GRCh38]
Chr9:130582203..130582204 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.*424G>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001166409] Chr9:127815258 [GRCh38]
Chr9:130577537 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1614A>G (p.Thr538=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005093695]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001166479] Chr9:127818192 [GRCh38]
Chr9:130580471 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.498G>C (p.Gln166His) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000794565]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002305539] Chr9:127826535 [GRCh38]
Chr9:130588814 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_130586573)_(130592116_?)dup duplication Hereditary hemorrhagic telangiectasia [RCV004581853] Chr9:127824294..127829837 [GRCh38]
Chr9:130586573..130592116 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.350A>C (p.His117Pro) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000798322] Chr9:127829697 [GRCh38]
Chr9:130591976 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.753_781del (p.Ile252fs) deletion Hereditary hemorrhagic telangiectasia [RCV000805303] Chr9:127825266..127825294 [GRCh38]
Chr9:130587545..130587573 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.633C>T (p.Gly211=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000802410]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV003117593] Chr9:127825751 [GRCh38]
Chr9:130588030 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.799_804del (p.His267_Asn268del) deletion Hereditary hemorrhagic telangiectasia [RCV000818947] Chr9:127825243..127825248 [GRCh38]
Chr9:130587522..130587527 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.742G>A (p.Asp248Asn) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000799784] Chr9:127825305 [GRCh38]
Chr9:130587584 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.488_491del (p.Asn163fs) deletion Hereditary hemorrhagic telangiectasia [RCV000799971] Chr9:127826542..127826545 [GRCh38]
Chr9:130588821..130588824 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1055C>T (p.Pro352Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000816579] Chr9:127824383 [GRCh38]
Chr9:130586662 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.815G>A (p.Trp272Ter) single nucleotide variant Cardiovascular phenotype [RCV002422749]|Hereditary hemorrhagic telangiectasia [RCV000803704] Chr9:127825232 [GRCh38]
Chr9:130587511 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.280G>T (p.Glu94Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV000823009] Chr9:127829767 [GRCh38]
Chr9:130592046 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.582C>T (p.Leu194=) single nucleotide variant Cardiovascular phenotype [RCV002352510]|Hereditary hemorrhagic telangiectasia [RCV001411633] Chr9:127825802 [GRCh38]
Chr9:130588081 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.562dup (p.Gln188fs) duplication Cardiovascular phenotype [RCV004029062]|Hereditary hemorrhagic telangiectasia [RCV000821161] Chr9:127825821..127825822 [GRCh38]
Chr9:130588100..130588101 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1241T>A (p.Met414Lys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001067548] Chr9:127819931 [GRCh38]
Chr9:130582210 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_000118.3(ENG):c.-364G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001167704] Chr9:127854719 [GRCh38]
Chr9:130616998 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.12:g.(?_127819612)_(127820047_?)dup duplication Hereditary hemorrhagic telangiectasia [RCV001032361] Chr9:130581891..130582326 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1258A>G (p.Met420Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001234384]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001168716] Chr9:127819914 [GRCh38]
Chr9:130582193 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1241T>C (p.Met414Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003117797]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001168717] Chr9:127819931 [GRCh38]
Chr9:130582210 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_001114753.3(ENG):c.787_789del (p.Ile263del) deletion Cardiovascular phenotype [RCV002411604]|ENG-related disorder [RCV003405288]|Hereditary hemorrhagic telangiectasia [RCV001068930] Chr9:127825258..127825260 [GRCh38]
Chr9:130587537..130587539 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs) deletion Cardiovascular phenotype [RCV002393222]|Hereditary hemorrhagic telangiectasia [RCV001044982]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263071] Chr9:127818331..127818334 [GRCh38]
Chr9:130580610..130580613 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1758C>T (p.Gly586=) single nucleotide variant Cardiovascular phenotype [RCV004994183]|Hereditary hemorrhagic telangiectasia [RCV001046677] Chr9:127816037 [GRCh38]
Chr9:130578316 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1233C>T (p.Ser411=) single nucleotide variant Cardiovascular phenotype [RCV002363258]|Hereditary hemorrhagic telangiectasia [RCV000870195] Chr9:127819939 [GRCh38]
Chr9:130582218 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.111C>T (p.Pro37=) single nucleotide variant Cardiovascular phenotype [RCV002434114]|Hereditary hemorrhagic telangiectasia [RCV001471442]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001169537] Chr9:127843202 [GRCh38]
Chr9:130605481 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1181G>A (p.Cys394Tyr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001228435]|not provided [RCV004699217] Chr9:127819991 [GRCh38]
Chr9:130582270 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1725C>G (p.Ile575Met) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001045341] Chr9:127817165 [GRCh38]
Chr9:130579444 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.387G>A (p.Glu129=) single nucleotide variant Cardiovascular phenotype [RCV004994184]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002479188]|not provided [RCV000999222] Chr9:127826646 [GRCh38]
Chr9:130588925 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1250_1253dup (p.Met420fs) duplication not provided [RCV001009318] Chr9:127819918..127819919 [GRCh38]
Chr9:130582197..130582198 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.910C>T (p.Arg304Trp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001246781]|not provided [RCV004768972] Chr9:127824881 [GRCh38]
Chr9:130587160 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.690-59C>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001002293] Chr9:127825416 [GRCh38]
Chr9:130587695 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.91G>A (p.Asp31Asn) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001230142] Chr9:127843222 [GRCh38]
Chr9:130605501 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1238del (p.Gly413fs) deletion Cardiovascular phenotype [RCV002365938]|Hereditary hemorrhagic telangiectasia [RCV001209139] Chr9:127819934 [GRCh38]
Chr9:130582213 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001221010]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262072] Chr9:127825273 [GRCh38]
Chr9:130587552 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1626dup (p.Lys543fs) duplication Cardiovascular phenotype [RCV002402730]|Hereditary hemorrhagic telangiectasia [RCV001233754] Chr9:127818179..127818180 [GRCh38]
Chr9:130580458..130580459 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1357G>C (p.Gly453Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001224652] Chr9:127818787 [GRCh38]
Chr9:130581066 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.866G>A (p.Gly289Asp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001226702] Chr9:127824925 [GRCh38]
Chr9:130587204 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.332C>T (p.Ala111Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001225084] Chr9:127829715 [GRCh38]
Chr9:130591994 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.373G>C (p.Val125Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001243487] Chr9:127826660 [GRCh38]
Chr9:130588939 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.674del (p.Pro225fs) deletion Cardiovascular phenotype [RCV002375222]|Hereditary hemorrhagic telangiectasia [RCV001225902] Chr9:127825710 [GRCh38]
Chr9:130587989 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.590G>A (p.Arg197Gln) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001235591] Chr9:127825794 [GRCh38]
Chr9:130588073 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.820A>G (p.Thr274Ala) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001225533] Chr9:127824971 [GRCh38]
Chr9:130587250 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001225657]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002484223] Chr9:127826591 [GRCh38]
Chr9:130588870 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.360+1G>T single nucleotide variant Cardiovascular phenotype [RCV002451499]|Hereditary hemorrhagic telangiectasia [RCV001219028] Chr9:127829686 [GRCh38]
Chr9:130591965 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.821C>T (p.Thr274Ile) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001219039] Chr9:127824970 [GRCh38]
Chr9:130587249 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.571_573delinsTG (p.Gly191fs) indel Hereditary hemorrhagic telangiectasia [RCV001247904] Chr9:127825811..127825813 [GRCh38]
Chr9:130588090..130588092 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.*492G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001166406] Chr9:127815190 [GRCh38]
Chr9:130577469 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.*438G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001166408] Chr9:127815244 [GRCh38]
Chr9:130577523 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.569T>A (p.Met190Lys) single nucleotide variant Cardiovascular phenotype [RCV002348772]|Hereditary hemorrhagic telangiectasia [RCV001229612]|not provided [RCV001508634] Chr9:127825815 [GRCh38]
Chr9:130588094 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.*391G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001166940] Chr9:127815291 [GRCh38]
Chr9:130577570 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.*534C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001169346] Chr9:127815148 [GRCh38]
Chr9:130577427 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-227C>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001167127] Chr9:127854582 [GRCh38]
Chr9:130616861 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1450_1451del (p.Ser484fs) microsatellite Hereditary hemorrhagic telangiectasia [RCV001229717] Chr9:127818355..127818356 [GRCh38]
Chr9:130580634..130580635 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1312-110_1312-109dup duplication not provided [RCV001568855] Chr9:127818940..127818941 [GRCh38]
Chr9:130581219..130581220 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.360+6T>G single nucleotide variant not provided [RCV001553316] Chr9:127829681 [GRCh38]
Chr9:130591960 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1741+228G>C single nucleotide variant not provided [RCV001713362] Chr9:127816921 [GRCh38]
Chr9:130579200 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.1134+16C>T single nucleotide variant not provided [RCV001579711] Chr9:127824288 [GRCh38]
Chr9:130586567 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1312-109dup duplication not provided [RCV001609346] Chr9:127818940..127818941 [GRCh38]
Chr9:130581219..130581220 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.764G>T (p.Gly255Val) single nucleotide variant Cardiovascular phenotype [RCV002388618]|Hereditary hemorrhagic telangiectasia [RCV002592491]|not provided [RCV001592377] Chr9:127825283 [GRCh38]
Chr9:130587562 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
NM_001114753.3(ENG):c.68-17G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001859372]|not provided [RCV001551906] Chr9:127843262 [GRCh38]
Chr9:130605541 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg) single nucleotide variant Cardiovascular phenotype [RCV002359157]|Hereditary hemorrhagic telangiectasia [RCV001533004] Chr9:127825798 [GRCh38]
Chr9:130588077 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1779G>A (p.Leu593=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003595246] Chr9:127816016 [GRCh38]
Chr9:130578295 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.525C>T (p.Ala175=) single nucleotide variant Cardiovascular phenotype [RCV004994106]|not provided [RCV000909032] Chr9:127825859 [GRCh38]
Chr9:130588138 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.393G>A (p.Pro131=) single nucleotide variant Cardiovascular phenotype [RCV003307586]|Hereditary hemorrhagic telangiectasia [RCV000862502]|not specified [RCV004702475] Chr9:127826640 [GRCh38]
Chr9:130588919 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.975T>G (p.Leu325=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001406415] Chr9:127824816 [GRCh38]
Chr9:130587095 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1440C>A (p.Ser480=) single nucleotide variant Cardiovascular phenotype [RCV004994139]|Hereditary hemorrhagic telangiectasia [RCV001430583] Chr9:127818366 [GRCh38]
Chr9:130580645 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.684G>A (p.Ser228=) single nucleotide variant Cardiovascular phenotype [RCV002363468]|ENG-related disorder [RCV003933240]|Hereditary hemorrhagic telangiectasia [RCV001414840]|not provided [RCV004707498] Chr9:127825700 [GRCh38]
Chr9:130587979 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.574C>G (p.Arg192Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002066496] Chr9:127825810 [GRCh38]
Chr9:130588089 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1333dup (p.Met445fs) duplication Hereditary hemorrhagic telangiectasia [RCV001235601] Chr9:127818810..127818811 [GRCh38]
Chr9:130581089..130581090 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.527del (p.Gln176fs) deletion Hereditary hemorrhagic telangiectasia [RCV001238767] Chr9:127825857 [GRCh38]
Chr9:130588136 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.577_588delinsGT (p.Thr193fs) indel Hereditary hemorrhagic telangiectasia [RCV001239030] Chr9:127825796..127825807 [GRCh38]
Chr9:130588075..130588086 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.695G>A (p.Arg232Gln) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001207824] Chr9:127825352 [GRCh38]
Chr9:130587631 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1695del (p.His565fs) deletion Hereditary hemorrhagic telangiectasia [RCV001230568] Chr9:127817195 [GRCh38]
Chr9:130579474 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1686+5G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001231934]|not provided [RCV004778017] Chr9:127818115 [GRCh38]
Chr9:130580394 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.547A>G (p.Met183Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001036706] Chr9:127825837 [GRCh38]
Chr9:130588116 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.278G>A (p.Arg93Gln) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001044326] Chr9:127829769 [GRCh38]
Chr9:130592048 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.*533G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001166404] Chr9:127815149 [GRCh38]
Chr9:130577428 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1110_1115dup (p.Leu372_Lys373insValLeu) duplication Hereditary hemorrhagic telangiectasia [RCV001224273] Chr9:127824322..127824323 [GRCh38]
Chr9:130586601..130586602 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.*320G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001166941] Chr9:127815362 [GRCh38]
Chr9:130577641 [GRCh37]
Chr9:9q34.11		 benign
NC_000009.12:g.(?_127819612)_(127829837_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001033606] Chr9:130581891..130592116 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001206409]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001286215]|not provided [RCV004792793] Chr9:127843171 [GRCh38]
Chr9:130605450 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.214C>T (p.Pro72Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001224676] Chr9:127843099 [GRCh38]
Chr9:130605378 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.468del (p.Thr157fs) deletion Hereditary hemorrhagic telangiectasia [RCV001224827] Chr9:127826565 [GRCh38]
Chr9:130588844 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter) single nucleotide variant Cardiovascular phenotype [RCV002402652]|Hereditary hemorrhagic telangiectasia [RCV001217745]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262055] Chr9:127843154 [GRCh38]
Chr9:130605433 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.565G>A (p.Asp189Asn) single nucleotide variant Cardiovascular phenotype [RCV002348827]|Hereditary hemorrhagic telangiectasia [RCV001243876] Chr9:127825819 [GRCh38]
Chr9:130588098 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.461dup (p.Ile156fs) duplication Hereditary hemorrhagic telangiectasia [RCV001045837] Chr9:127826571..127826572 [GRCh38]
Chr9:130588850..130588851 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1786A>G (p.Thr596Ala) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001221584] Chr9:127816009 [GRCh38]
Chr9:130578288 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.970T>C (p.Ser324Pro) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001227933] Chr9:127824821 [GRCh38]
Chr9:130587100 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.405C>G (p.Thr135=) single nucleotide variant Cardiovascular phenotype [RCV002320124]|Hereditary hemorrhagic telangiectasia [RCV001434129]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001167063]|not provided [RCV003432932] Chr9:127826628 [GRCh38]
Chr9:130588907 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1008C>T (p.Thr336=) single nucleotide variant Cardiovascular phenotype [RCV004029613]|Hereditary hemorrhagic telangiectasia [RCV000934426] Chr9:127824430 [GRCh38]
Chr9:130586709 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1955G>A (p.Cys652Tyr) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV005047180]|not provided [RCV000999217] Chr9:127815704 [GRCh38]
Chr9:130577983 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1853-14GCTCCC[3] microsatellite Telangiectasia, hereditary hemorrhagic, type 1 [RCV002479187]|not provided [RCV000999219] Chr9:127815808..127815809 [GRCh38]
Chr9:130578087..130578088 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1850C>T (p.Thr617Met) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001069948]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002481795]|not provided [RCV000999220] Chr9:127815945 [GRCh38]
Chr9:130578224 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.523+235C>T single nucleotide variant not provided [RCV001577458] Chr9:127826275 [GRCh38]
Chr9:130588554 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1742-135G>A single nucleotide variant not provided [RCV001571796] Chr9:127816188 [GRCh38]
Chr9:130578467 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1686+317A>G single nucleotide variant not provided [RCV001555343] Chr9:127817803 [GRCh38]
Chr9:130580082 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.68-256A>G single nucleotide variant not provided [RCV001594236] Chr9:127843501 [GRCh38]
Chr9:130605780 [GRCh37]
Chr9:9q34.11		 likely benign
GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1 copy number loss Developmental and epileptic encephalopathy, 4 [RCV001263247] Chr9:128512347..130702572 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
NM_001114753.3(ENG):c.1686+124G>T single nucleotide variant not provided [RCV001675283] Chr9:127817996 [GRCh38]
Chr9:130580275 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.583G>A (p.Glu195Lys) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV002488472]|not provided [RCV001700572] Chr9:127825801 [GRCh38]
Chr9:130588080 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.910C>G (p.Arg304Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001862688] Chr9:127824881 [GRCh38]
Chr9:130587160 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.219G>T (p.Thr73=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003594096]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001167642] Chr9:127843094 [GRCh38]
Chr9:130605373 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.838A>T (p.Lys280Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001001118] Chr9:127824953 [GRCh38]
Chr9:130587232 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1853-18C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001168658] Chr9:127815824 [GRCh38]
Chr9:130578103 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1067T>C (p.Met356Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001346325]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001169485] Chr9:127824371 [GRCh38]
Chr9:130586650 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.774C>G (p.Tyr258Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001172494] Chr9:127825273 [GRCh38]
Chr9:130587552 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.12:g.(?_127825214)_(127826683_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001033859] Chr9:130587493..130588962 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1109T>A (p.Leu370Gln) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001034842] Chr9:127824329 [GRCh38]
Chr9:130586608 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1428+127G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001000457] Chr9:127818589 [GRCh38]
Chr9:130580868 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.187G>T (p.Glu63Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001044486]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001000992] Chr9:127843126 [GRCh38]
Chr9:130605405 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.497A>C (p.Gln166Pro) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001035020]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263065]|not provided [RCV003480907] Chr9:127826536 [GRCh38]
Chr9:130588815 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.12:g.(?_127824294)_(127826683_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001033067] Chr9:130586573..130588962 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.116G>A (p.Arg39Lys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001047544]|See cases [RCV004584418]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002505585] Chr9:127843197 [GRCh38]
Chr9:130605476 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1742-293C>T single nucleotide variant not provided [RCV001714234] Chr9:127816346 [GRCh38]
Chr9:130578625 [GRCh37]
Chr9:9q34.11		 benign
NC_000009.12:g.(?_127824294)_(127824456_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001031846] Chr9:130586573..130586735 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.673C>T (p.Pro225Ser) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001777191] Chr9:127825711 [GRCh38]
Chr9:130587990 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1727_1732del (p.Ser576_Asp578delinsAsn) deletion Pulmonary arterial hypertension [RCV001003749] Chr9:127817158..127817163 [GRCh38]
Chr9:130579437..130579442 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1511T>A (p.Val504Glu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001166481] Chr9:127818295 [GRCh38]
Chr9:130580574 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.841A>G (p.Ile281Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001219675] Chr9:127824950 [GRCh38]
Chr9:130587229 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1393A>G (p.Asn465Asp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001235781] Chr9:127818751 [GRCh38]
Chr9:130581030 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.752_768del (p.Leu251fs) deletion Hereditary hemorrhagic telangiectasia [RCV001217268] Chr9:127825279..127825295 [GRCh38]
Chr9:130587558..130587574 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.653C>T (p.Ala218Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001060351]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV005047267] Chr9:127825731 [GRCh38]
Chr9:130588010 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1852+36G>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001000200] Chr9:127815907 [GRCh38]
Chr9:130578186 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.360+5G>A single nucleotide variant Cardiovascular phenotype [RCV002454251]|Hereditary hemorrhagic telangiectasia [RCV001217648]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001000405]|not provided [RCV003480897] Chr9:127829682 [GRCh38]
Chr9:130591961 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) microsatellite Hereditary hemorrhagic telangiectasia [RCV001223354]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001001196] Chr9:127825338..127825343 [GRCh38]
Chr9:130587617..130587622 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
NM_001114753.3(ENG):c.806T>G (p.Met269Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001206664] Chr9:127825241 [GRCh38]
Chr9:130587520 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
NM_001114753.3(ENG):c.626T>A (p.Leu209Ter) single nucleotide variant Cardiovascular phenotype [RCV002365717]|Hereditary hemorrhagic telangiectasia [RCV001057195] Chr9:127825758 [GRCh38]
Chr9:130588037 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.392C>A (p.Pro131Gln) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001873453] Chr9:127826641 [GRCh38]
Chr9:130588920 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1538A>G (p.Lys513Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001233675]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV003446664]|not provided [RCV001507757] Chr9:127818268 [GRCh38]
Chr9:130580547 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1243C>T (p.Gln415Ter) single nucleotide variant Cardiovascular phenotype [RCV002382238]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001000406] Chr9:127819929 [GRCh38]
Chr9:130582208 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.771dup (p.Tyr258fs) duplication Cardiovascular phenotype [RCV002400180]|Hereditary hemorrhagic telangiectasia [RCV001383204] Chr9:127825275..127825276 [GRCh38]
Chr9:130587554..130587555 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.689+2T>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001206775] Chr9:127825693 [GRCh38]
Chr9:130587972 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.*4C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001168655] Chr9:127815678 [GRCh38]
Chr9:130577957 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1853-27C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001168659] Chr9:127815833 [GRCh38]
Chr9:130578112 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1675del (p.Ser559fs) deletion Hereditary hemorrhagic telangiectasia [RCV001231653] Chr9:127818131 [GRCh38]
Chr9:130580410 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.617del (p.Gly206fs) deletion Cardiovascular phenotype [RCV002356911]|Hereditary hemorrhagic telangiectasia [RCV001213125] Chr9:127825767 [GRCh38]
Chr9:130588046 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.*558A>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001169345] Chr9:127815124 [GRCh38]
Chr9:130577403 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1852+51C>G single nucleotide variant ENG-related disorder [RCV003953561]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001169421] Chr9:127815892 [GRCh38]
Chr9:130578171 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.*586C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001169344] Chr9:127815096 [GRCh38]
Chr9:130577375 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-23G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001169539] Chr9:127854378 [GRCh38]
Chr9:130616657 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.277dup (p.Arg93fs) duplication Cardiovascular phenotype [RCV002436910]|Hereditary hemorrhagic telangiectasia [RCV001232142] Chr9:127829769..127829770 [GRCh38]
Chr9:130592048..130592049 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.-59C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002559586]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001165529] Chr9:127854414 [GRCh38]
Chr9:130616693 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.12:g.(?_127854279)_(127854365_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001033921] Chr9:130616558..130616644 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.12:g.(?_127815672)_(128541180_?)del deletion not provided [RCV001032461] Chr9:130577951..131303459 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.293T>A (p.Val98Asp) single nucleotide variant Cardiovascular phenotype [RCV002436547]|Hereditary hemorrhagic telangiectasia [RCV001040883] Chr9:127829754 [GRCh38]
Chr9:130592033 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.766_776del (p.Pro256fs) deletion Hereditary hemorrhagic telangiectasia [RCV001213256] Chr9:127825271..127825281 [GRCh38]
Chr9:130587550..130587560 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.777_778dup (p.Ser260fs) microsatellite Hereditary hemorrhagic telangiectasia [RCV001215435]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262074] Chr9:127825268..127825269 [GRCh38]
Chr9:130587547..130587548 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1273-4_1273-3delinsAA indel Hereditary hemorrhagic telangiectasia [RCV001205640] Chr9:127819663..127819664 [GRCh38]
Chr9:130581942..130581943 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1311+5G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001236499]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002225129] Chr9:127819617 [GRCh38]
Chr9:130581896 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.194A>G (p.His65Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001202666] Chr9:127843119 [GRCh38]
Chr9:130605398 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.494C>T (p.Pro165Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001059724] Chr9:127826539 [GRCh38]
Chr9:130588818 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.674C>T (p.Pro225Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001071252]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV005049760] Chr9:127825710 [GRCh38]
Chr9:130587989 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.600_603dup (p.Ala202fs) duplication Hereditary hemorrhagic telangiectasia [RCV001039709] Chr9:127825780..127825781 [GRCh38]
Chr9:130588059..130588060 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1276_1279delinsATAAA (p.Val426fs) indel Hereditary hemorrhagic telangiectasia [RCV001246195] Chr9:127819654..127819657 [GRCh38]
Chr9:130581933..130581936 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.68G>C (p.Ser23Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001064125] Chr9:127843245 [GRCh38]
Chr9:130605524 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1678C>T (p.Gln560Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001071539] Chr9:127818128 [GRCh38]
Chr9:130580407 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.704C>A (p.Thr235Lys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001071958] Chr9:127825343 [GRCh38]
Chr9:130587622 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.470C>T (p.Thr157Ile) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001036050] Chr9:127826563 [GRCh38]
Chr9:130588842 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.523+1G>C single nucleotide variant Cardiovascular phenotype [RCV002339393]|Hereditary hemorrhagic telangiectasia [RCV001862689]|not provided [RCV001091125] Chr9:127826509 [GRCh38]
Chr9:130588788 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1710G>T (p.Met570Ile) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001202573] Chr9:127817180 [GRCh38]
Chr9:130579459 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.588G>A (p.Trp196Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002549132]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001000381] Chr9:127825796 [GRCh38]
Chr9:130588075 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.667del (p.Val223fs) deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001000933] Chr9:127825717 [GRCh38]
Chr9:130587996 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1698del (p.Thr567fs) deletion Cardiovascular phenotype [RCV002402581]|Hereditary hemorrhagic telangiectasia [RCV001203720] Chr9:127817192 [GRCh38]
Chr9:130579471 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.320_328del (p.Leu107_Leu109del) deletion Hereditary hemorrhagic telangiectasia [RCV001052121] Chr9:127829719..127829727 [GRCh38]
Chr9:130591998..130592006 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.992-3C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001042214] Chr9:127824449 [GRCh38]
Chr9:130586728 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.695G>T (p.Arg232Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001062810] Chr9:127825352 [GRCh38]
Chr9:130587631 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro) single nucleotide variant Cardiovascular phenotype [RCV002454275]|Hereditary hemorrhagic telangiectasia [RCV001038120]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263075] Chr9:127854321 [GRCh38]
Chr9:130616600 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1427A>G (p.Gln476Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001062986] Chr9:127818717 [GRCh38]
Chr9:130580996 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1093G>A (p.Asp365Asn) single nucleotide variant Cardiovascular phenotype [RCV004034847]|Hereditary hemorrhagic telangiectasia [RCV001246042] Chr9:127824345 [GRCh38]
Chr9:130586624 [GRCh37]
Chr9:9q34.11		 benign|likely benign|uncertain significance
NM_001114753.3(ENG):c.8G>A (p.Arg3His) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002570525]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001253137]|not specified [RCV002246239] Chr9:127854348 [GRCh38]
Chr9:130616627 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
NM_001114753.3(ENG):c.496dup (p.Gln166fs) duplication Cardiovascular phenotype [RCV002339701]|Hereditary hemorrhagic telangiectasia [RCV001390951]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263076]|not provided [RCV003481041] Chr9:127826536..127826537 [GRCh38]
Chr9:130588815..130588816 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.496del (p.Gln166fs) deletion Hereditary hemorrhagic telangiectasia [RCV005094258]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263083] Chr9:127826537 [GRCh38]
Chr9:130588816 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.298_299del (p.Ser100fs) deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262062] Chr9:127829748..127829749 [GRCh38]
Chr9:130592027..130592028 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.763G>T (p.Gly255Cys) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262069] Chr9:127825284 [GRCh38]
Chr9:130587563 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.772del (p.Tyr258fs) deletion Cardiovascular phenotype [RCV002402804]|Hereditary hemorrhagic telangiectasia [RCV001880032]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262071]|not provided [RCV001843958] Chr9:127825275 [GRCh38]
Chr9:130587554 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1384C>T (p.Gln462Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263067] Chr9:127818760 [GRCh38]
Chr9:130581039 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1484T>C (p.Leu495Pro) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263072] Chr9:127818322 [GRCh38]
Chr9:130580601 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.370del (p.Leu124fs) deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263074] Chr9:127826663 [GRCh38]
Chr9:130588942 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.967_968del (p.Val323fs) deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263080] Chr9:127824823..127824824 [GRCh38]
Chr9:130587102..130587103 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.524-1_689+1del deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262038] Chr9:127825694..127825861 [GRCh38]
Chr9:130587973..130588140 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1582_1583del (p.Pro528fs) deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262054] Chr9:127818223..127818224 [GRCh38]
Chr9:130580502..130580503 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.239T>C (p.Leu80Pro) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262061] Chr9:127829808 [GRCh38]
Chr9:130592087 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.817-1G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262075] Chr9:127824975 [GRCh38]
Chr9:130587254 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1977G>A (p.Ter659=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001285260] Chr9:127815682 [GRCh38]
Chr9:130577961 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter) single nucleotide variant Cardiovascular phenotype [RCV002393677]|Hereditary hemorrhagic telangiectasia [RCV002537646]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263068] Chr9:127818733 [GRCh38]
Chr9:130581012 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.953C>G (p.Pro318Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001348665] Chr9:127824838 [GRCh38]
Chr9:130587117 [GRCh37]
Chr9:9q34.11		 uncertain significance
Single allele deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262041] Chr9:130581520..130593094 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.523+229_991+123del deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262044] Chr9:127824677..127826281 [GRCh38]
Chr9:130586956..130588560 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter) single nucleotide variant Cardiovascular phenotype [RCV002393674]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262052] Chr9:127818293 [GRCh38]
Chr9:130580572 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.164del (p.Ala55fs) deletion Hereditary hemorrhagic telangiectasia [RCV001880031]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262057] Chr9:127843149 [GRCh38]
Chr9:130605428 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.776T>G (p.Val259Gly) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262073] Chr9:127825271 [GRCh38]
Chr9:130587550 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1063C>T (p.Leu355Phe) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001324714] Chr9:127824375 [GRCh38]
Chr9:130586654 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.242C>A (p.Thr81Asn) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001294975] Chr9:127829805 [GRCh38]
Chr9:130592084 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.620G>T (p.Cys207Phe) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001287270] Chr9:127825764 [GRCh38]
Chr9:130588043 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1724T>C (p.Ile575Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001313287] Chr9:127817166 [GRCh38]
Chr9:130579445 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-10C>T single nucleotide variant Cardiovascular phenotype [RCV002430065]|ENG-related disorder [RCV003405477]|Hereditary hemorrhagic telangiectasia [RCV001880157]|not provided [RCV001268056] Chr9:127854365 [GRCh38]
Chr9:130616644 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.1437_1456dup (p.Phe486fs) duplication Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263069] Chr9:127818349..127818350 [GRCh38]
Chr9:130580628..130580629 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.328C>T (p.Gln110Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001880053]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263073] Chr9:127829719 [GRCh38]
Chr9:130591998 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.146del (p.Val49fs) deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263070] Chr9:127843167 [GRCh38]
Chr9:130605446 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003594125]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263066]|not provided [RCV003481040] Chr9:127818779 [GRCh38]
Chr9:130581058 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp) single nucleotide variant Cardiovascular phenotype [RCV002375316]|ENG-related disorder [RCV004753257]|Hereditary hemorrhagic telangiectasia [RCV001880054]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263079] Chr9:127824868 [GRCh38]
Chr9:130587147 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.39del (p.Leu14fs) deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263081] Chr9:127854317 [GRCh38]
Chr9:130616596 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.503TCC[4] (p.Leu170_Arg171insLeu) microsatellite Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263084] Chr9:127826521..127826522 [GRCh38]
Chr9:130588800..130588801 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.220-988_1134+331del deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262043] Chr9:127823973..127830815 [GRCh38]
Chr9:130586252..130593094 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1626del (p.Thr544fs) deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262056] Chr9:127818180 [GRCh38]
Chr9:130580459 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.761_767dup (p.Pro257fs) duplication Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262070] Chr9:127825279..127825280 [GRCh38]
Chr9:130587558..130587559 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.899_901delinsC (p.Leu300fs) indel Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262077] Chr9:127824890..127824892 [GRCh38]
Chr9:130587169..130587171 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser) single nucleotide variant Cardiovascular phenotype [RCV004035394]|ENG-related disorder [RCV003405470]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262090]|not provided [RCV001785803]|not specified [RCV001819966] Chr9:127819904 [GRCh38]
Chr9:130582183 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001880033]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262076] Chr9:127824895 [GRCh38]
Chr9:130587174 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1238G>A (p.Gly413Asp) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262089] Chr9:127819934 [GRCh38]
Chr9:130582213 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.220-226_1134+331del deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262042] Chr9:127823973..127830053 [GRCh38]
Chr9:130586252..130592332 [GRCh37]
Chr9:9q34.11		 pathogenic
Single allele deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262047] Chr9:130605269..130618535 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.208G>T (p.Glu70Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262060] Chr9:127843105 [GRCh38]
Chr9:130605384 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.690-2A>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262067] Chr9:127825359 [GRCh38]
Chr9:130587638 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9q34.11(chr9:130581787-130582459) copy number loss Telangiectasia, hereditary hemorrhagic, type 1 [RCV002280654] Chr9:130581787..130582459 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9q34.11(chr9:130412438-131423964)x1 copy number loss Infantile epilepsy syndrome [RCV001265154] Chr9:130412438..131423964 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1686+312C>T single nucleotide variant not provided [RCV001572482] Chr9:127817808 [GRCh38]
Chr9:130580087 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1337A>G (p.Asp446Gly) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263062] Chr9:127818807 [GRCh38]
Chr9:130581086 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1311+5G>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263063] Chr9:127819617 [GRCh38]
Chr9:130581896 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.620G>A (p.Cys207Tyr) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001263077] Chr9:127825764 [GRCh38]
Chr9:130588043 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NC_000009.12:g.127814982_127820052del deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262039] Chr9:127814980..127820050 [GRCh38]
Chr9:130577259..130582329 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.12:g.127814980_127830815del deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262040] Chr9:127814980..127830815 [GRCh38]
Chr9:130577259..130593094 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.220-225_991+123del deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262045] Chr9:127824677..127830052 [GRCh38]
Chr9:130586956..130592331 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.68-4227_219+104del deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262046] Chr9:127842990..127847472 [GRCh38]
Chr9:130605269..130609751 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1490dup (p.Leu497fs) duplication Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262051] Chr9:127818315..127818316 [GRCh38]
Chr9:130580594..130580595 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.63dup (p.Thr22fs) duplication Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262063] Chr9:127854292..127854293 [GRCh38]
Chr9:130616571..130616572 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002537627]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262064] Chr9:127825738 [GRCh38]
Chr9:130588017 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.667dup (p.Val223fs) duplication Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262065] Chr9:127825716..127825717 [GRCh38]
Chr9:130587995..130587996 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1183G>T (p.Glu395Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262088] Chr9:127819989 [GRCh38]
Chr9:130582268 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1273-2A>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001262091] Chr9:127819662 [GRCh38]
Chr9:130581941 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.118G>T (p.Gly40Cys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001350260] Chr9:127843195 [GRCh38]
Chr9:130605474 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.556G>A (p.Ala186Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001341717] Chr9:127825828 [GRCh38]
Chr9:130588107 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.530G>A (p.Gly177Glu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001314136] Chr9:127825854 [GRCh38]
Chr9:130588133 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.707T>A (p.Val236Glu) single nucleotide variant Cardiovascular phenotype [RCV002366125]|Hereditary hemorrhagic telangiectasia [RCV001297411] Chr9:127825340 [GRCh38]
Chr9:130587619 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
NM_001114753.3(ENG):c.748G>A (p.Val250Ile) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001342072] Chr9:127825299 [GRCh38]
Chr9:130587578 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1272+2T>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001286024] Chr9:127819898 [GRCh38]
Chr9:130582177 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1026G>T (p.Gln342His) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001324912] Chr9:127824412 [GRCh38]
Chr9:130586691 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.668_685del (p.Val223_Ser228del) deletion Hereditary hemorrhagic telangiectasia [RCV001320176] Chr9:127825699..127825716 [GRCh38]
Chr9:130587978..130587995 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.704C>T (p.Thr235Met) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001351216] Chr9:127825343 [GRCh38]
Chr9:130587622 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg) single nucleotide variant Cardiovascular phenotype [RCV002411932]|Hereditary hemorrhagic telangiectasia [RCV003594127]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001289606] Chr9:127815988 [GRCh38]
Chr9:130578267 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.1276G>A (p.Val426Met) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001351261] Chr9:127819657 [GRCh38]
Chr9:130581936 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1637C>T (p.Thr546Ile) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001339094] Chr9:127818169 [GRCh38]
Chr9:130580448 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.688G>A (p.Gly230Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001350992] Chr9:127825696 [GRCh38]
Chr9:130587975 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1197G>C (p.Arg399Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001314641] Chr9:127819975 [GRCh38]
Chr9:130582254 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.829T>C (p.Tyr277His) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001303675] Chr9:127824962 [GRCh38]
Chr9:130587241 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.343C>T (p.Pro115Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001306848] Chr9:127829704 [GRCh38]
Chr9:130591983 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.708G>A (p.Val236=) single nucleotide variant Cardiovascular phenotype [RCV004995807]|Hereditary hemorrhagic telangiectasia [RCV001433095] Chr9:127825339 [GRCh38]
Chr9:130587618 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.867C>T (p.Gly289=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001415479] Chr9:127824924 [GRCh38]
Chr9:130587203 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003759041]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001289855] Chr9:127818161 [GRCh38]
Chr9:130580440 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001114753.3(ENG):c.1534G>A (p.Ala512Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001369384] Chr9:127818272 [GRCh38]
Chr9:130580551 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1851G>A (p.Thr617=) single nucleotide variant Cardiovascular phenotype [RCV003160686]|Hereditary hemorrhagic telangiectasia [RCV001421057] Chr9:127815944 [GRCh38]
Chr9:130578223 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1295G>A (p.Ser432Asn) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001370215] Chr9:127819638 [GRCh38]
Chr9:130581917 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1058A>G (p.Glu353Gly) single nucleotide variant Cardiovascular phenotype [RCV003365450]|not provided [RCV001786721] Chr9:127824380 [GRCh38]
Chr9:130586659 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.747C>T (p.Ala249=) single nucleotide variant Cardiovascular phenotype [RCV004995737]|Hereditary hemorrhagic telangiectasia [RCV001392578] Chr9:127825300 [GRCh38]
Chr9:130587579 [GRCh37]
Chr9:9q34.11		 likely benign
NC_000009.11:g.(?_130577951)_(130700109_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001383142] Chr9:130577951..130700109 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130605353)_(130605544_?)del deletion Hereditary hemorrhagic telangiectasia [RCV004581845] Chr9:130605353..130605544 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.417A>C (p.Pro139=) single nucleotide variant Cardiovascular phenotype [RCV003160665]|Hereditary hemorrhagic telangiectasia [RCV001415261] Chr9:127826616 [GRCh38]
Chr9:130588895 [GRCh37]
Chr9:9q34.11		 likely benign
NC_000009.11:g.(?_130374663)_(131329276_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001304269] Chr9:130374663..131329276 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.657_658del (p.Ile220fs) microsatellite Hereditary hemorrhagic telangiectasia [RCV001383206] Chr9:127825726..127825727 [GRCh38]
Chr9:130588005..130588006 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.682T>A (p.Ser228Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001371210] Chr9:127825702 [GRCh38]
Chr9:130587981 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.786C>T (p.Leu262=) single nucleotide variant Cardiovascular phenotype [RCV002414000]|Hereditary hemorrhagic telangiectasia [RCV001422022] Chr9:127825261 [GRCh38]
Chr9:130587540 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1029_1030delinsTC (p.Thr344Pro) indel Hereditary hemorrhagic telangiectasia [RCV001373164] Chr9:127824408..127824409 [GRCh38]
Chr9:130586687..130586688 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1295G>C (p.Ser432Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001368826] Chr9:127819638 [GRCh38]
Chr9:130581917 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001309474]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV003485705] Chr9:127843164 [GRCh38]
Chr9:130605443 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1027A>G (p.Thr343Ala) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001364828] Chr9:127824411 [GRCh38]
Chr9:130586690 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_129376729)_(131016993_?)del deletion Developmental and epileptic encephalopathy, 31A [RCV001364955]|Early infantile epileptic encephalopathy with suppression bursts [RCV001383155] Chr9:129376729..131016993 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic|uncertain significance|no classifications from unflagged records
NM_001114753.3(ENG):c.613C>T (p.Arg205Trp) single nucleotide variant Cardiovascular phenotype [RCV002357091]|Hereditary hemorrhagic telangiectasia [RCV001297931] Chr9:127825771 [GRCh38]
Chr9:130588050 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001871683]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001286121] Chr9:127819956 [GRCh38]
Chr9:130582235 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001343795] Chr9:127819938 [GRCh38]
Chr9:130582217 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NC_000009.11:g.(?_130216797)_(130953151_?)dup duplication Congenital disorder of glycosylation type 1u [RCV001323033] Chr9:130216797..130953151 [GRCh37]
Chr9:9q33.3-34.11		 uncertain significance
NM_001114753.3(ENG):c.1153A>C (p.Thr385Pro) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001345925] Chr9:127820019 [GRCh38]
Chr9:130582298 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.524-13C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001863156]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001289848] Chr9:127825873 [GRCh38]
Chr9:130588152 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1771G>A (p.Ala591Thr) single nucleotide variant Cardiovascular phenotype [RCV004995697]|Hereditary hemorrhagic telangiectasia [RCV001345954] Chr9:127816024 [GRCh38]
Chr9:130578303 [GRCh37]
Chr9:9q34.11		 benign|likely benign|uncertain significance
NM_001114753.3(ENG):c.1730C>G (p.Pro577Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001365234]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002493865] Chr9:127817160 [GRCh38]
Chr9:130579439 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1774G>A (p.Val592Met) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001298203] Chr9:127816021 [GRCh38]
Chr9:130578300 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1171G>C (p.Asp391His) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001324312] Chr9:127820001 [GRCh38]
Chr9:130582280 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.923_925dup (p.Ala308_Ser309insThr) duplication Hereditary hemorrhagic telangiectasia [RCV001347293] Chr9:127824865..127824866 [GRCh38]
Chr9:130587144..130587145 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1385A>G (p.Gln462Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001358837] Chr9:127818759 [GRCh38]
Chr9:130581038 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1336G>A (p.Asp446Asn) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001326970] Chr9:127818808 [GRCh38]
Chr9:130581087 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.901G>C (p.Gly301Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001313577] Chr9:127824890 [GRCh38]
Chr9:130587169 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.219+5G>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001325035] Chr9:127843089 [GRCh38]
Chr9:130605368 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1177A>G (p.Ser393Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001317296] Chr9:127819995 [GRCh38]
Chr9:130582274 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.951_956del (p.Pro318_Leu319del) deletion Hereditary hemorrhagic telangiectasia [RCV001302726] Chr9:127824835..127824840 [GRCh38]
Chr9:130587114..130587119 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1695T>A (p.His565Gln) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001362468] Chr9:127817195 [GRCh38]
Chr9:130579474 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1195A>G (p.Arg399Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001296084] Chr9:127819977 [GRCh38]
Chr9:130582256 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.889C>G (p.Gln297Glu) single nucleotide variant ENG-related disorder [RCV003405621]|Hereditary hemorrhagic telangiectasia [RCV001371452]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002488170] Chr9:127824902 [GRCh38]
Chr9:130587181 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.586T>A (p.Trp196Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001366756] Chr9:127825798 [GRCh38]
Chr9:130588077 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.354G>A (p.Leu118=) single nucleotide variant Cardiovascular phenotype [RCV004037516]|Hereditary hemorrhagic telangiectasia [RCV001371818] Chr9:127829693 [GRCh38]
Chr9:130591972 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
Single allele deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001449863] Chr9:130605373..130605524 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1565C>T (p.Pro522Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001337147] Chr9:127818241 [GRCh38]
Chr9:130580520 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
Single allele duplication Telangiectasia, hereditary hemorrhagic, type 1 [RCV001449862] Chr9:130605373..130605524 [GRCh37]
Chr9:9q34.11		 pathogenic
Single allele deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001449864] Chr9:130581901..130582316 [GRCh37]
Chr9:9q34.11		 pathogenic|risk factor
Single allele deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001449865] Chr9:130580995..130582316 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.755T>C (p.Ile252Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001369206] Chr9:127825292 [GRCh38]
Chr9:130587571 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
NM_001114753.3(ENG):c.1429-1G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV002225135]|not provided [RCV001507758] Chr9:127818378 [GRCh38]
Chr9:130580657 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.758T>C (p.Leu253Pro) single nucleotide variant not provided [RCV001507761] Chr9:127825289 [GRCh38]
Chr9:130587568 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1002G>A (p.Leu334=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001464109] Chr9:127824436 [GRCh38]
Chr9:130586715 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.819C>T (p.Thr273=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001473142] Chr9:127824972 [GRCh38]
Chr9:130587251 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.397dup (p.Val133fs) duplication Hereditary hemorrhagic telangiectasia [RCV003759051]|not provided [RCV001508636] Chr9:127826635..127826636 [GRCh38]
Chr9:130588914..130588915 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.654G>A (p.Ala218=) single nucleotide variant Cardiovascular phenotype [RCV002368302]|Hereditary hemorrhagic telangiectasia [RCV001416965] Chr9:127825730 [GRCh38]
Chr9:130588009 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.616_617insCTCCA (p.Gly206fs) insertion Hereditary hemorrhagic telangiectasia [RCV001389387] Chr9:127825767..127825768 [GRCh38]
Chr9:130588046..130588047 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.285G>A (p.Val95=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001501860] Chr9:127829762 [GRCh38]
Chr9:130592041 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.822T>C (p.Thr274=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001473270] Chr9:127824969 [GRCh38]
Chr9:130587248 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.290T>G (p.Leu97Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001377783] Chr9:127829757 [GRCh38]
Chr9:130592036 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1512G>A (p.Val504=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001504698] Chr9:127818294 [GRCh38]
Chr9:130580573 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1852+11C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001457830] Chr9:127815932 [GRCh38]
Chr9:130578211 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.705G>A (p.Thr235=) single nucleotide variant Cardiovascular phenotype [RCV002368459]|Hereditary hemorrhagic telangiectasia [RCV001475440]|not provided [RCV003426132] Chr9:127825342 [GRCh38]
Chr9:130587621 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.992-5C>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001474089]|not specified [RCV005057431] Chr9:127824451 [GRCh38]
Chr9:130586730 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.817-5A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001500492]|not specified [RCV001823776] Chr9:127824979 [GRCh38]
Chr9:130587258 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.218C>T (p.Thr73Met) single nucleotide variant Cardiovascular phenotype [RCV002432354]|Hereditary hemorrhagic telangiectasia [RCV001482670] Chr9:127843095 [GRCh38]
Chr9:130605374 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1584G>A (p.Pro528=) single nucleotide variant Cardiovascular phenotype [RCV002405183]|Hereditary hemorrhagic telangiectasia [RCV001499694] Chr9:127818222 [GRCh38]
Chr9:130580501 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.942C>T (p.Phe314=) single nucleotide variant Cardiovascular phenotype [RCV004038587]|Hereditary hemorrhagic telangiectasia [RCV001460390] Chr9:127824849 [GRCh38]
Chr9:130587128 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.768C>T (p.Pro256=) single nucleotide variant Cardiovascular phenotype [RCV003298662]|Hereditary hemorrhagic telangiectasia [RCV001403651] Chr9:127825279 [GRCh38]
Chr9:130587558 [GRCh37]
Chr9:9q34.11		 likely benign
NC_000009.11:g.(?_130605351)_(130616761_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001390907] Chr9:130605351..130616761 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130577951)_(130581121_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001390908] Chr9:130577951..130581121 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130578090)_130581774del deletion Hereditary hemorrhagic telangiectasia [RCV001390909]   pathogenic
NC_000009.11:g.(?_130578196)_(130592116_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001390910] Chr9:130578196..130592116 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130587069)_(130592116_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001390911] Chr9:130587069..130592116 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130578190)_(130592112_?)dup duplication Hereditary hemorrhagic telangiectasia [RCV001377349] Chr9:130578190..130592112 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1429-5T>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001469243] Chr9:127818382 [GRCh38]
Chr9:130580661 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.606C>T (p.Ala202=) single nucleotide variant Cardiovascular phenotype [RCV004995824]|Hereditary hemorrhagic telangiectasia [RCV001446155] Chr9:127825778 [GRCh38]
Chr9:130588057 [GRCh37]
Chr9:9q34.11		 likely benign
NC_000009.11:g.(?_130579560)_130582216del deletion Hereditary hemorrhagic telangiectasia [RCV001380534]   pathogenic
NM_001114753.3(ENG):c.1273-10A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001407259] Chr9:127819670 [GRCh38]
Chr9:130581949 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.767_786del (p.Pro256fs) deletion Cardiovascular phenotype [RCV002404897]|Hereditary hemorrhagic telangiectasia [RCV001380339] Chr9:127825261..127825280 [GRCh38]
Chr9:130587540..130587559 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1687-2A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001388266] Chr9:127817205 [GRCh38]
Chr9:130579484 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1426C>T (p.Gln476Ter) single nucleotide variant Cardiovascular phenotype [RCV002395875]|Hereditary hemorrhagic telangiectasia [RCV001388267] Chr9:127818718 [GRCh38]
Chr9:130580997 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1531del (p.Ala511fs) deletion Hereditary hemorrhagic telangiectasia [RCV001389534] Chr9:127818275 [GRCh38]
Chr9:130580554 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1134G>C (p.Ala378=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001387664] Chr9:127824304 [GRCh38]
Chr9:130586583 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.663G>A (p.Leu221=) single nucleotide variant Cardiovascular phenotype [RCV002368354]|Hereditary hemorrhagic telangiectasia [RCV001438997]|not provided [RCV004546655] Chr9:127825721 [GRCh38]
Chr9:130588000 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.863_867dup (p.Phe290fs) duplication Hereditary hemorrhagic telangiectasia [RCV001389737] Chr9:127824923..127824924 [GRCh38]
Chr9:130587202..130587203 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130577951)_(130582326_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001380532] Chr9:130577951..130582326 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1686+8G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001429105]|not provided [RCV004571000]|not specified [RCV004587155] Chr9:127818112 [GRCh38]
Chr9:130580391 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NC_000009.11:g.(?_130605363)_(130605542_?)dup duplication Hereditary hemorrhagic telangiectasia [RCV004581852] Chr9:130605363..130605542 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.806T>A (p.Met269Lys) single nucleotide variant Cardiovascular phenotype [RCV002420857]|Hereditary hemorrhagic telangiectasia [RCV001381129] Chr9:127825241 [GRCh38]
Chr9:130587520 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
NM_001114753.3(ENG):c.705G>C (p.Thr235=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001405823] Chr9:127825342 [GRCh38]
Chr9:130587621 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1023C>A (p.Ile341=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001417694] Chr9:127824415 [GRCh38]
Chr9:130586694 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.729A>C (p.Ala243=) single nucleotide variant Cardiovascular phenotype [RCV003160728]|Hereditary hemorrhagic telangiectasia [RCV001431328] Chr9:127825318 [GRCh38]
Chr9:130587597 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.360+1G>C single nucleotide variant Cardiovascular phenotype [RCV002456608]|Hereditary hemorrhagic telangiectasia [RCV001390952] Chr9:127829686 [GRCh38]
Chr9:130591965 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1203C>T (p.Asp401=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001427207] Chr9:127819969 [GRCh38]
Chr9:130582248 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.690-1G>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001388923] Chr9:127825358 [GRCh38]
Chr9:130587637 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1312-10C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001408883] Chr9:127818842 [GRCh38]
Chr9:130581121 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1200T>C (p.Gly400=) single nucleotide variant Cardiovascular phenotype [RCV002350843]|Hereditary hemorrhagic telangiectasia [RCV001429742] Chr9:127819972 [GRCh38]
Chr9:130582251 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1272+8C>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001427399] Chr9:127819892 [GRCh38]
Chr9:130582171 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1742-10C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001402835] Chr9:127816063 [GRCh38]
Chr9:130578342 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.792C>T (p.Asp264=) single nucleotide variant Cardiovascular phenotype [RCV002420921]|Hereditary hemorrhagic telangiectasia [RCV001411673] Chr9:127825255 [GRCh38]
Chr9:130587534 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1741+79G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001505733] Chr9:127817070 [GRCh38]
Chr9:130579349 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1815G>A (p.Leu605=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001457528] Chr9:127815980 [GRCh38]
Chr9:130578259 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.694_699del (p.Arg232_Thr233del) deletion Cardiovascular phenotype [RCV002368539]|Hereditary hemorrhagic telangiectasia [RCV003594129]|not provided [RCV001508633] Chr9:127825348..127825353 [GRCh38]
Chr9:130587627..130587632 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.67+4G>A single nucleotide variant not provided [RCV001508638] Chr9:127854285 [GRCh38]
Chr9:130616564 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1312-12G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001458138] Chr9:127818844 [GRCh38]
Chr9:130581123 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.108C>T (p.Gly36=) single nucleotide variant Cardiovascular phenotype [RCV004037916]|Hereditary hemorrhagic telangiectasia [RCV001510748]|not specified [RCV004699406] Chr9:127843205 [GRCh38]
Chr9:130605484 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.1836C>T (p.Tyr612=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001500014] Chr9:127815959 [GRCh38]
Chr9:130578238 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.250G>C (p.Ala84Pro) single nucleotide variant Cardiovascular phenotype [RCV004038496]|Hereditary hemorrhagic telangiectasia [RCV001451514] Chr9:127829797 [GRCh38]
Chr9:130592076 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.361-311GA[4] microsatellite not provided [RCV001609123] Chr9:127826977..127826978 [GRCh38]
Chr9:130589256..130589257 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.1686+306A>G single nucleotide variant not provided [RCV001682486] Chr9:127817814 [GRCh38]
Chr9:130580093 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.1530G>A (p.Arg510=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001467839] Chr9:127818276 [GRCh38]
Chr9:130580555 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1312-4C>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001471679] Chr9:127818836 [GRCh38]
Chr9:130581115 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1687-157G>C single nucleotide variant not provided [RCV001590048] Chr9:127817360 [GRCh38]
Chr9:130579639 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.991+8C>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001478573] Chr9:127824792 [GRCh38]
Chr9:130587071 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.375_378dup (p.Phe127fs) duplication Hereditary hemorrhagic telangiectasia [RCV001386593] Chr9:127826654..127826655 [GRCh38]
Chr9:130588933..130588934 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1674G>C (p.Gly558=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001487151] Chr9:127818132 [GRCh38]
Chr9:130580411 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1428+8G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001473007] Chr9:127818708 [GRCh38]
Chr9:130580987 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.672G>A (p.Leu224=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001417030] Chr9:127825712 [GRCh38]
Chr9:130587991 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1005_1006insGT (p.Thr336fs) insertion Hereditary hemorrhagic telangiectasia [RCV001387959] Chr9:127824432..127824433 [GRCh38]
Chr9:130586711..130586712 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.523+1G>A single nucleotide variant Cardiovascular phenotype [RCV002341830]|Hereditary hemorrhagic telangiectasia [RCV001387969] Chr9:127826509 [GRCh38]
Chr9:130588788 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.615G>T (p.Arg205=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001490432] Chr9:127825769 [GRCh38]
Chr9:130588048 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter) single nucleotide variant Cardiovascular phenotype [RCV002404909]|Hereditary hemorrhagic telangiectasia [RCV001390809] Chr9:127817203 [GRCh38]
Chr9:130579482 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1485G>A (p.Leu495=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001476043] Chr9:127818321 [GRCh38]
Chr9:130580600 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1134+92G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001457691] Chr9:127824212 [GRCh38]
Chr9:130586491 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.405dup (p.Thr136fs) duplication Hereditary hemorrhagic telangiectasia [RCV001391026] Chr9:127826627..127826628 [GRCh38]
Chr9:130588906..130588907 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.654G>C (p.Ala218=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001498975] Chr9:127825730 [GRCh38]
Chr9:130588009 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.831C>T (p.Tyr277=) single nucleotide variant Cardiovascular phenotype [RCV003298848]|Hereditary hemorrhagic telangiectasia [RCV001480367] Chr9:127824960 [GRCh38]
Chr9:130587239 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1742-9C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001417875] Chr9:127816062 [GRCh38]
Chr9:130578341 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1650G>A (p.Thr550=) single nucleotide variant Cardiovascular phenotype [RCV002396145]|Hereditary hemorrhagic telangiectasia [RCV001480932] Chr9:127818156 [GRCh38]
Chr9:130580435 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.753C>T (p.Leu251=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001497201] Chr9:127825294 [GRCh38]
Chr9:130587573 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.255C>T (p.Ser85=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001437842] Chr9:127829792 [GRCh38]
Chr9:130592071 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1611C>T (p.Tyr537=) single nucleotide variant Cardiovascular phenotype [RCV002404933]|Hereditary hemorrhagic telangiectasia [RCV001401001] Chr9:127818195 [GRCh38]
Chr9:130580474 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.654_655del (p.Ile220fs) microsatellite Hereditary hemorrhagic telangiectasia [RCV001386403] Chr9:127825729..127825730 [GRCh38]
Chr9:130588008..130588009 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.132_133del (p.Thr45fs) microsatellite Hereditary hemorrhagic telangiectasia [RCV001859351]|not provided [RCV001508637] Chr9:127843180..127843181 [GRCh38]
Chr9:130605459..130605460 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro) single nucleotide variant Cardiovascular phenotype [RCV002359230]|Hereditary hemorrhagic telangiectasia [RCV002539874]|not provided [RCV001756534] Chr9:127825803 [GRCh38]
Chr9:130588082 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.296T>A (p.Leu99His) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001730109] Chr9:127829751 [GRCh38]
Chr9:130592030 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1153del (p.Thr385fs) deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001775351] Chr9:127820019 [GRCh38]
Chr9:130582298 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.974T>G (p.Leu325Arg) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV002273053] Chr9:127824817 [GRCh38]
Chr9:130587096 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.1151T>C (p.Ile384Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002544078]|not provided [RCV001767411] Chr9:127820021 [GRCh38]
Chr9:130582300 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.1018C>T (p.Pro340Ser) single nucleotide variant not provided [RCV001773008] Chr9:127824420 [GRCh38]
Chr9:130586699 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1099G>C (p.Ala367Pro) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001861077]|not provided [RCV001765164] Chr9:127824339 [GRCh38]
Chr9:130586618 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1135C>G (p.His379Asp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003759068]|not provided [RCV001767475] Chr9:127820037 [GRCh38]
Chr9:130582316 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.933_968del (p.Ala312_Val323del) deletion not provided [RCV001765007] Chr9:127824823..127824858 [GRCh38]
Chr9:130587102..130587137 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.524-1G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001801298] Chr9:127825861 [GRCh38]
Chr9:130588140 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.689+17G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002074157]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001802324] Chr9:127825678 [GRCh38]
Chr9:130587957 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.501C>A (p.Ser167Arg) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001802541] Chr9:127826532 [GRCh38]
Chr9:130588811 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.558del (p.Ser187fs) deletion Cardiovascular phenotype [RCV003365452]|Hereditary hemorrhagic telangiectasia [RCV001869459]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001803481] Chr9:127825826 [GRCh38]
Chr9:130588105 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.219+2T>C single nucleotide variant Cardiovascular phenotype [RCV002425077]|Hereditary hemorrhagic telangiectasia [RCV001885245]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001803568] Chr9:127843092 [GRCh38]
Chr9:130605371 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.788T>G (p.Ile263Ser) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV001803611] Chr9:127825259 [GRCh38]
Chr9:130587538 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.88T>C (p.Cys30Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002542422]|not provided [RCV001810349] Chr9:127843225 [GRCh38]
Chr9:130605504 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.1687-1G>A single nucleotide variant Cardiovascular phenotype [RCV002397756]|Hereditary hemorrhagic telangiectasia [RCV002541392]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002482336]|not provided [RCV001806990] Chr9:127817204 [GRCh38]
Chr9:130579483 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.67+6_67+14del deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV001803646] Chr9:127854275..127854283 [GRCh38]
Chr9:130616554..130616562 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.465dup (p.Ile156fs) duplication Telangiectasia, hereditary hemorrhagic, type 1 [RCV001802641] Chr9:127826567..127826568 [GRCh38]
Chr9:130588846..130588847 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1139_1142dup (p.Lys381fs) duplication not provided [RCV001817759] Chr9:127820029..127820030 [GRCh38]
Chr9:130582308..130582309 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1122dup (p.Glu375fs) duplication not provided [RCV001817890] Chr9:127824315..127824316 [GRCh38]
Chr9:130586594..130586595 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002541358]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001802294] Chr9:127824351 [GRCh38]
Chr9:130586630 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1402G>C (p.Glu468Gln) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001928947] Chr9:127818742 [GRCh38]
Chr9:130581021 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1209dup (p.Val404fs) duplication Hereditary hemorrhagic telangiectasia [RCV001894937] Chr9:127819962..127819963 [GRCh38]
Chr9:130582241..130582242 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.824G>A (p.Gly275Glu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001896543] Chr9:127824967 [GRCh38]
Chr9:130587246 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1782C>T (p.Gly594=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002003721] Chr9:127816013 [GRCh38]
Chr9:130578292 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.996_997dup (p.Arg333fs) duplication Hereditary hemorrhagic telangiectasia [RCV001969846] Chr9:127824440..127824441 [GRCh38]
Chr9:130586719..130586720 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.592C>A (p.Pro198Thr) single nucleotide variant ENG-related disorder [RCV003402011]|Hereditary hemorrhagic telangiectasia [RCV002008296] Chr9:127825792 [GRCh38]
Chr9:130588071 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_130605353)_(130616834_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001949558] Chr9:130605353..130616834 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.985A>T (p.Ser329Cys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002023052] Chr9:127824806 [GRCh38]
Chr9:130587085 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.770C>T (p.Pro257Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001915087] Chr9:127825277 [GRCh38]
Chr9:130587556 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.361-36_370del deletion Hereditary hemorrhagic telangiectasia [RCV002044980] Chr9:127826663..127826708 [GRCh38]
Chr9:130588942..130588987 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.790G>A (p.Asp264Asn) single nucleotide variant Cardiovascular phenotype [RCV002422874]|Hereditary hemorrhagic telangiectasia [RCV002545229]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001839470] Chr9:127825257 [GRCh38]
Chr9:130587536 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.-126G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002543261]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV001839476]|not provided [RCV003442916] Chr9:127854481 [GRCh38]
Chr9:130616760 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.500G>T (p.Ser167Ile) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001913993] Chr9:127826533 [GRCh38]
Chr9:130588812 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1852C>T (p.Arg618Cys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001895413] Chr9:127815943 [GRCh38]
Chr9:130578222 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.208G>A (p.Glu70Lys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001929697] Chr9:127843105 [GRCh38]
Chr9:130605384 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1076T>A (p.Ile359Asn) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001864385] Chr9:127824362 [GRCh38]
Chr9:130586641 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.580_596del (p.Leu194fs) deletion Hereditary hemorrhagic telangiectasia [RCV001863683] Chr9:127825788..127825804 [GRCh38]
Chr9:130588067..130588083 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130578196)_(130616761_?)dup duplication Hereditary hemorrhagic telangiectasia [RCV001913422] Chr9:130578196..130616761 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.149C>A (p.Ser50Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001872700] Chr9:127843164 [GRCh38]
Chr9:130605443 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001114753.3(ENG):c.1155G>A (p.Thr385=) single nucleotide variant Cardiovascular phenotype [RCV003382669]|Hereditary hemorrhagic telangiectasia [RCV001894849] Chr9:127820017 [GRCh38]
Chr9:130582296 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.28G>A (p.Val10Ile) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002039873] Chr9:127854328 [GRCh38]
Chr9:130616607 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1517T>A (p.Leu506His) single nucleotide variant ENG-related disorder [RCV003408025]|Hereditary hemorrhagic telangiectasia [RCV001966153] Chr9:127818289 [GRCh38]
Chr9:130580568 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.1728C>A (p.Ser576Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002004006] Chr9:127817162 [GRCh38]
Chr9:130579441 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.451G>T (p.Ala151Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002020555] Chr9:127826582 [GRCh38]
Chr9:130588861 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.619T>C (p.Cys207Arg) single nucleotide variant Cardiovascular phenotype [RCV002352744]|Hereditary hemorrhagic telangiectasia [RCV002020601] Chr9:127825765 [GRCh38]
Chr9:130588044 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1312-3C>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002039787]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV003989132]|not provided [RCV004697146] Chr9:127818835 [GRCh38]
Chr9:130581114 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1263C>G (p.Ile421Met) single nucleotide variant Cardiovascular phenotype [RCV004046824]|Hereditary hemorrhagic telangiectasia [RCV002020773]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002507810] Chr9:127819909 [GRCh38]
Chr9:130582188 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1216C>T (p.Arg406Cys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001945484] Chr9:127819956 [GRCh38]
Chr9:130582235 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-91C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001910536] Chr9:127854446 [GRCh38]
Chr9:130616725 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-77C>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001945675] Chr9:127854432 [GRCh38]
Chr9:130616711 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1572del (p.Glu525fs) deletion Hereditary hemorrhagic telangiectasia [RCV001947022] Chr9:127818234 [GRCh38]
Chr9:130580513 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1675dup (p.Ser559fs) duplication Hereditary hemorrhagic telangiectasia [RCV001947061] Chr9:127818130..127818131 [GRCh38]
Chr9:130580409..130580410 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.67+2T>C single nucleotide variant Cardiovascular phenotype [RCV002361083]|Hereditary hemorrhagic telangiectasia [RCV001869863]|not provided [RCV001843980] Chr9:127854287 [GRCh38]
Chr9:130616566 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3 copy number gain not provided [RCV001832977] Chr9:128523763..132604808 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
NM_001114753.3(ENG):c.457_458del (p.Arg153fs) microsatellite Cardiovascular phenotype [RCV002334719]|Hereditary hemorrhagic telangiectasia [RCV003594167]|not provided [RCV001843979] Chr9:127826575..127826576 [GRCh38]
Chr9:130588854..130588855 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.691C>A (p.Pro231Thr) single nucleotide variant Cardiovascular phenotype [RCV004042513]|Hereditary hemorrhagic telangiectasia [RCV002003201] Chr9:127825356 [GRCh38]
Chr9:130587635 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1686+18C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001982975] Chr9:127818102 [GRCh38]
Chr9:130580381 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.310A>C (p.Ser104Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001968670] Chr9:127829737 [GRCh38]
Chr9:130592016 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.200T>C (p.Leu67Pro) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002041280] Chr9:127843113 [GRCh38]
Chr9:130605392 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q34.11(chr9:130390139-132760275) copy number loss not specified [RCV002052848] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1645T>A (p.Cys549Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001966971] Chr9:127818161 [GRCh38]
Chr9:130580440 [GRCh37]
Chr9:9q34.11		 likely pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795) copy number loss not specified [RCV002052846] Chr9:129079208..130851795 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
NM_001114753.3(ENG):c.219+19G>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001946900] Chr9:127843075 [GRCh38]
Chr9:130605354 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1172A>G (p.Asp391Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002006941] Chr9:127820000 [GRCh38]
Chr9:130582279 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.851del (p.Glu284fs) deletion Hereditary hemorrhagic telangiectasia [RCV001948999] Chr9:127824940 [GRCh38]
Chr9:130587219 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1480C>G (p.His494Asp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001890376] Chr9:127818326 [GRCh38]
Chr9:130580605 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.781_782dup (p.Trp261fs) duplication Hereditary hemorrhagic telangiectasia [RCV005095313]|not provided [RCV001843978] Chr9:127825264..127825265 [GRCh38]
Chr9:130587543..130587544 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1251_1256del (p.Ala418_Ser419del) deletion Hereditary hemorrhagic telangiectasia [RCV001912162] Chr9:127819916..127819921 [GRCh38]
Chr9:130582195..130582200 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) copy number gain not specified [RCV002052831] Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11		 pathogenic
NM_001114753.3(ENG):c.1682A>G (p.Asp561Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001984692] Chr9:127818124 [GRCh38]
Chr9:130580403 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.130T>C (p.Tyr44His) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002011985]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002051990] Chr9:127843183 [GRCh38]
Chr9:130605462 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1106C>T (p.Thr369Ile) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001969143] Chr9:127824332 [GRCh38]
Chr9:130586611 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1134+1G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001909060] Chr9:127824303 [GRCh38]
Chr9:130586582 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1686+1G>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV003120720]|not provided [RCV001843976] Chr9:127818119 [GRCh38]
Chr9:130580398 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1040A>G (p.Lys347Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001965332]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV005042565] Chr9:127824398 [GRCh38]
Chr9:130586677 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.64A>G (p.Thr22Ala) single nucleotide variant Cardiovascular phenotype [RCV004045325]|Hereditary hemorrhagic telangiectasia [RCV001983824] Chr9:127854292 [GRCh38]
Chr9:130616571 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.503T>A (p.Ile168Asn) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001962621]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002221294] Chr9:127826530 [GRCh38]
Chr9:130588809 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1095C>G (p.Asp365Glu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002017521] Chr9:127824343 [GRCh38]
Chr9:130586622 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1347_1350del (p.Phe450fs) deletion Hereditary hemorrhagic telangiectasia [RCV001999783]|not provided [RCV004801107] Chr9:127818794..127818797 [GRCh38]
Chr9:130581073..130581076 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.235G>T (p.Glu79Ter) single nucleotide variant Cardiovascular phenotype [RCV002449534]|Hereditary hemorrhagic telangiectasia [RCV001884462] Chr9:127829812 [GRCh38]
Chr9:130592091 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1502G>A (p.Gly501Glu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001936775] Chr9:127818304 [GRCh38]
Chr9:130580583 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_130578190)_(130616640_?)dup duplication Hereditary hemorrhagic telangiectasia [RCV001941330] Chr9:130578190..130616640 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1312-1G>C single nucleotide variant Cardiovascular phenotype [RCV002386858]|Hereditary hemorrhagic telangiectasia [RCV001980286] Chr9:127818833 [GRCh38]
Chr9:130581112 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1529G>A (p.Arg510Gln) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001925935]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV005042509] Chr9:127818277 [GRCh38]
Chr9:130580556 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.790_798del (p.Asp264_Asn266del) deletion Hereditary hemorrhagic telangiectasia [RCV001941245] Chr9:127825249..127825257 [GRCh38]
Chr9:130587528..130587536 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1528C>T (p.Arg510Trp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001886714] Chr9:127818278 [GRCh38]
Chr9:130580557 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.512G>A (p.Arg171Gln) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001982601] Chr9:127826521 [GRCh38]
Chr9:130588800 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1428+5C>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001899646] Chr9:127818711 [GRCh38]
Chr9:130580990 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1067T>G (p.Met356Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002001385] Chr9:127824371 [GRCh38]
Chr9:130586650 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1093G>T (p.Asp365Tyr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001942926] Chr9:127824345 [GRCh38]
Chr9:130586624 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1042del (p.Asp348fs) deletion Hereditary hemorrhagic telangiectasia [RCV002000103] Chr9:127824396 [GRCh38]
Chr9:130586675 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.487A>T (p.Asn163Tyr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001976177] Chr9:127826546 [GRCh38]
Chr9:130588825 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.376A>G (p.Thr126Ala) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001962761] Chr9:127826657 [GRCh38]
Chr9:130588936 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NM_001114753.3(ENG):c.1076dup (p.Gln360fs) duplication Hereditary hemorrhagic telangiectasia [RCV001878459] Chr9:127824361..127824362 [GRCh38]
Chr9:130586640..130586641 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.48C>G (p.Ser16Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001878539] Chr9:127854308 [GRCh38]
Chr9:130616587 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.344C>T (p.Pro115Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001981447] Chr9:127829703 [GRCh38]
Chr9:130591982 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.593C>G (p.Pro198Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001870356] Chr9:127825791 [GRCh38]
Chr9:130588070 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.836del (p.Phe279fs) deletion Hereditary hemorrhagic telangiectasia [RCV001933577] Chr9:127824955 [GRCh38]
Chr9:130587234 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130216807)_(130953136_?)del deletion Congenital muscular dystrophy with intellectual disability and severe epilepsy [RCV001972646] Chr9:130216807..130953136 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
NM_001114753.3(ENG):c.485T>C (p.Leu162Pro) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001990998] Chr9:127826548 [GRCh38]
Chr9:130588827 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.338G>A (p.Gly113Glu) single nucleotide variant Cardiovascular phenotype [RCV003355732]|Hereditary hemorrhagic telangiectasia [RCV001995594]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV005050500] Chr9:127829709 [GRCh38]
Chr9:130591988 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.692C>A (p.Pro231His) single nucleotide variant Cardiovascular phenotype [RCV003167221]|Hereditary hemorrhagic telangiectasia [RCV001931162] Chr9:127825355 [GRCh38]
Chr9:130587634 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.457A>T (p.Arg153Trp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001902596] Chr9:127826576 [GRCh38]
Chr9:130588855 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.919A>G (p.Asn307Asp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001936528] Chr9:127824872 [GRCh38]
Chr9:130587151 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1241T>G (p.Met414Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002009785] Chr9:127819931 [GRCh38]
Chr9:130582210 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.576C>T (p.Arg192=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002011119] Chr9:127825808 [GRCh38]
Chr9:130588087 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1018_1019del (p.Pro340fs) deletion Hereditary hemorrhagic telangiectasia [RCV001936143] Chr9:127824419..127824420 [GRCh38]
Chr9:130586698..130586699 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1559T>C (p.Leu520Pro) single nucleotide variant Cardiovascular phenotype [RCV004990546]|Hereditary hemorrhagic telangiectasia [RCV002012464] Chr9:127818247 [GRCh38]
Chr9:130580526 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.922dup (p.Ala308fs) duplication Hereditary hemorrhagic telangiectasia [RCV001953920] Chr9:127824868..127824869 [GRCh38]
Chr9:130587147..130587148 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.605C>A (p.Ala202Asp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001870127] Chr9:127825779 [GRCh38]
Chr9:130588058 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.769C>G (p.Pro257Ala) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001898984] Chr9:127825278 [GRCh38]
Chr9:130587557 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.770_771del (p.Pro257fs) deletion Hereditary hemorrhagic telangiectasia [RCV001994886] Chr9:127825276..127825277 [GRCh38]
Chr9:130587555..130587556 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.360+4_360+7del deletion Hereditary hemorrhagic telangiectasia [RCV001992074] Chr9:127829680..127829683 [GRCh38]
Chr9:130591959..130591962 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1852+1G>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002018733] Chr9:127815942 [GRCh38]
Chr9:130578221 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_130216807)_(130700099_?)dup duplication Congenital muscular dystrophy with intellectual disability and severe epilepsy [RCV001920331] Chr9:130216807..130700099 [GRCh37]
Chr9:9q33.3-34.11		 uncertain significance
NM_001114753.3(ENG):c.1696A>G (p.Arg566Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002049277] Chr9:127817194 [GRCh38]
Chr9:130579473 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1427A>T (p.Gln476Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001989940] Chr9:127818717 [GRCh38]
Chr9:130580996 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.794C>A (p.Ala265Asp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002011843] Chr9:127825253 [GRCh38]
Chr9:130587532 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.609G>C (p.Leu203Phe) single nucleotide variant ENG-related disorder [RCV003418339]|Hereditary hemorrhagic telangiectasia [RCV002018356] Chr9:127825775 [GRCh38]
Chr9:130588054 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1327C>G (p.Leu443Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001907049] Chr9:127818817 [GRCh38]
Chr9:130581096 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.505C>T (p.Leu169Phe) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001936308]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV002484613] Chr9:127826528 [GRCh38]
Chr9:130588807 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.577A>G (p.Thr193Ala) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002035113] Chr9:127825807 [GRCh38]
Chr9:130588086 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1486G>A (p.Asp496Asn) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001922785] Chr9:127818320 [GRCh38]
Chr9:130580599 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1314A>G (p.Lys438=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001978279] Chr9:127818830 [GRCh38]
Chr9:130581109 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-99C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001960159] Chr9:127854454 [GRCh38]
Chr9:130616733 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.778dup (p.Ser260fs) duplication Hereditary hemorrhagic telangiectasia [RCV001994491] Chr9:127825268..127825269 [GRCh38]
Chr9:130587547..130587548 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1456T>C (p.Phe486Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001903408] Chr9:127818350 [GRCh38]
Chr9:130580629 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.991+4A>G single nucleotide variant Cardiovascular phenotype [RCV002386800]|Hereditary hemorrhagic telangiectasia [RCV001979778] Chr9:127824796 [GRCh38]
Chr9:130587075 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|uncertain significance
NC_000009.11:g.(?_130586563)_(130605544_?)dup duplication Hereditary hemorrhagic telangiectasia [RCV001939523] Chr9:130586563..130605544 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1153A>G (p.Thr385Ala) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002035797] Chr9:127820019 [GRCh38]
Chr9:130582298 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.179C>T (p.Ala60Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001925722] Chr9:127843134 [GRCh38]
Chr9:130605413 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.-76C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001999183] Chr9:127854431 [GRCh38]
Chr9:130616710 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1097A>G (p.Asp366Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001919362] Chr9:127824341 [GRCh38]
Chr9:130586620 [GRCh37]
Chr9:9q34.11		 benign|uncertain significance
NC_000009.11:g.(?_130586635)_(130592750_?)del deletion Hereditary hemorrhagic telangiectasia [RCV001960689] Chr9:130586635..130592750 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1292C>T (p.Ser431Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001907463] Chr9:127819641 [GRCh38]
Chr9:130581920 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.662T>G (p.Leu221Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001901676] Chr9:127825722 [GRCh38]
Chr9:130588001 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.68-18C>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002027402] Chr9:127843263 [GRCh38]
Chr9:130605542 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
NM_001114753.3(ENG):c.1096G>A (p.Asp366Asn) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001880396]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV005040426] Chr9:127824342 [GRCh38]
Chr9:130586621 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.872_883del (p.Lys291_Asp294del) deletion Hereditary hemorrhagic telangiectasia [RCV001977708] Chr9:127824908..127824919 [GRCh38]
Chr9:130587187..130587198 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.219+5G>A single nucleotide variant Cardiovascular phenotype [RCV002423216]|Hereditary hemorrhagic telangiectasia [RCV001992088] Chr9:127843089 [GRCh38]
Chr9:130605368 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1429-1G>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV001975130] Chr9:127818378 [GRCh38]
Chr9:130580657 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.992-3C>G single nucleotide variant Cardiovascular phenotype [RCV002386703]|Hereditary hemorrhagic telangiectasia [RCV001935346] Chr9:127824449 [GRCh38]
Chr9:130586728 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.220-16C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002165041] Chr9:127829843 [GRCh38]
Chr9:130592122 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1614_1615del (p.Val539fs) deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV002225226] Chr9:127818191..127818192 [GRCh38]
Chr9:130580470..130580471 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.816+14A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002191192] Chr9:127825217 [GRCh38]
Chr9:130587496 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.318C>T (p.Phe106=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002186804] Chr9:127829729 [GRCh38]
Chr9:130592008 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.726C>T (p.Cys242=) single nucleotide variant Cardiovascular phenotype [RCV002382362]|Hereditary hemorrhagic telangiectasia [RCV002112567] Chr9:127825321 [GRCh38]
Chr9:130587600 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.777G>T (p.Val259=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002071056] Chr9:127825270 [GRCh38]
Chr9:130587549 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.297C>T (p.Leu99=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002110597] Chr9:127829750 [GRCh38]
Chr9:130592029 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.524-14G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002170113] Chr9:127825874 [GRCh38]
Chr9:130588153 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1742-28C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV002227364] Chr9:127816081 [GRCh38]
Chr9:130578360 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.817-27_817-26del deletion Hereditary hemorrhagic telangiectasia [RCV002205600] Chr9:127825000..127825001 [GRCh38]
Chr9:130587279..130587280 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1092C>T (p.Ala364=) single nucleotide variant Cardiovascular phenotype [RCV002443177]|Hereditary hemorrhagic telangiectasia [RCV002111487] Chr9:127824346 [GRCh38]
Chr9:130586625 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1845G>C (p.Ser615=) single nucleotide variant Cardiovascular phenotype [RCV004990659]|Hereditary hemorrhagic telangiectasia [RCV002111615] Chr9:127815950 [GRCh38]
Chr9:130578229 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1312-13C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002210209] Chr9:127818845 [GRCh38]
Chr9:130581124 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1272+14C>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002185659] Chr9:127819886 [GRCh38]
Chr9:130582165 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.636G>C (p.Val212=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002107383] Chr9:127825748 [GRCh38]
Chr9:130588027 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1272+16A>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002190369] Chr9:127819884 [GRCh38]
Chr9:130582163 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.220-13_220-12del microsatellite Hereditary hemorrhagic telangiectasia [RCV002167921] Chr9:127829839..127829840 [GRCh38]
Chr9:130592118..130592119 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1742-13C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002117225] Chr9:127816066 [GRCh38]
Chr9:130578345 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.690-17C>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002091060] Chr9:127825374 [GRCh38]
Chr9:130587653 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.992-4A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002147569] Chr9:127824450 [GRCh38]
Chr9:130586729 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.524-6C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002130927] Chr9:127825866 [GRCh38]
Chr9:130588145 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.219+12dup duplication Hereditary hemorrhagic telangiectasia [RCV002165899] Chr9:127843081..127843082 [GRCh38]
Chr9:130605360..130605361 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.315C>T (p.Val105=) single nucleotide variant Cardiovascular phenotype [RCV002325675]|Hereditary hemorrhagic telangiectasia [RCV002126523] Chr9:127829732 [GRCh38]
Chr9:130592011 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.690-18G>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002077693] Chr9:127825375 [GRCh38]
Chr9:130587654 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1312-20T>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002079300] Chr9:127818852 [GRCh38]
Chr9:130581131 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.934del (p.Ala312fs) deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV002225172] Chr9:127824857 [GRCh38]
Chr9:130587136 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1311+89C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002097671] Chr9:127819533 [GRCh38]
Chr9:130581812 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.689+12G>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002104277] Chr9:127825683 [GRCh38]
Chr9:130587962 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1017A>G (p.Ala339=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002079889] Chr9:127824421 [GRCh38]
Chr9:130586700 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.690-17C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002071299] Chr9:127825374 [GRCh38]
Chr9:130587653 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.689+15C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002076428] Chr9:127825680 [GRCh38]
Chr9:130587959 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.816+9T>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002086102] Chr9:127825222 [GRCh38]
Chr9:130587501 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.360+12C>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002106100] Chr9:127829675 [GRCh38]
Chr9:130591954 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.220-15_220-13del microsatellite Hereditary hemorrhagic telangiectasia [RCV002134627] Chr9:127829840..127829842 [GRCh38]
Chr9:130592119..130592121 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.816+12G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002132180] Chr9:127825219 [GRCh38]
Chr9:130587498 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.1071C>T (p.Ser357=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002172050] Chr9:127824367 [GRCh38]
Chr9:130586646 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1275G>A (p.Ala425=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002096386] Chr9:127819658 [GRCh38]
Chr9:130581937 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.954G>T (p.Pro318=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002213673] Chr9:127824837 [GRCh38]
Chr9:130587116 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.870C>T (p.Phe290=) single nucleotide variant Cardiovascular phenotype [RCV003289439]|Hereditary hemorrhagic telangiectasia [RCV002119624] Chr9:127824921 [GRCh38]
Chr9:130587200 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1686+19G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002200140] Chr9:127818101 [GRCh38]
Chr9:130580380 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.690-16G>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002102316] Chr9:127825373 [GRCh38]
Chr9:130587652 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.360+91C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002199498] Chr9:127829596 [GRCh38]
Chr9:130591875 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.220-6C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002144415] Chr9:127829833 [GRCh38]
Chr9:130592112 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.45C>G (p.Ala15=) single nucleotide variant Cardiovascular phenotype [RCV002337292]|Hereditary hemorrhagic telangiectasia [RCV002117659] Chr9:127854311 [GRCh38]
Chr9:130616590 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.689+12G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002221034] Chr9:127825683 [GRCh38]
Chr9:130587962 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.513A>G (p.Arg171=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002199302] Chr9:127826520 [GRCh38]
Chr9:130588799 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1742-8C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002101978] Chr9:127816061 [GRCh38]
Chr9:130578340 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1077C>A (p.Ile359=) single nucleotide variant Cardiovascular phenotype [RCV002423296]|Hereditary hemorrhagic telangiectasia [RCV002102183] Chr9:127824361 [GRCh38]
Chr9:130586640 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.390C>T (p.Pro130=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002200213] Chr9:127826643 [GRCh38]
Chr9:130588922 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.68-18C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002202272] Chr9:127843263 [GRCh38]
Chr9:130605542 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.361-5C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002200681] Chr9:127826677 [GRCh38]
Chr9:130588956 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1687-19CT[2] microsatellite Cardiovascular phenotype [RCV002400367]|Hereditary hemorrhagic telangiectasia [RCV002143672] Chr9:127817215..127817218 [GRCh38]
Chr9:130579494..130579497 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.-70C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002158828]|not provided [RCV002264476] Chr9:127854425 [GRCh38]
Chr9:130616704 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.1620C>G (p.Pro540=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002180309] Chr9:127818186 [GRCh38]
Chr9:130580465 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1428+18C>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002138972] Chr9:127818698 [GRCh38]
Chr9:130580977 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1312-16_1312-13del microsatellite Hereditary hemorrhagic telangiectasia [RCV002155745] Chr9:127818845..127818848 [GRCh38]
Chr9:130581124..130581127 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.690-19del deletion Hereditary hemorrhagic telangiectasia [RCV002137653] Chr9:127825376 [GRCh38]
Chr9:130587655 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.27T>C (p.Ala9=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002098453] Chr9:127854329 [GRCh38]
Chr9:130616608 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.594G>A (p.Pro198=) single nucleotide variant Cardiovascular phenotype [RCV004990596]|Hereditary hemorrhagic telangiectasia [RCV002157277] Chr9:127825790 [GRCh38]
Chr9:130588069 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1704C>T (p.Val568=) single nucleotide variant Cardiovascular phenotype [RCV004990699]|Hereditary hemorrhagic telangiectasia [RCV002120963] Chr9:127817186 [GRCh38]
Chr9:130579465 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1686+9G>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002180125] Chr9:127818111 [GRCh38]
Chr9:130580390 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.742G>C (p.Asp248His) single nucleotide variant not provided [RCV003109881] Chr9:127825305 [GRCh38]
Chr9:130587584 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.602C>A (p.Pro201Gln) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003112676] Chr9:127825782 [GRCh38]
Chr9:130588061 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.665G>A (p.Arg222Lys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003115652] Chr9:127825719 [GRCh38]
Chr9:130587998 [GRCh37]
Chr9:9q34.11		 likely benign
NC_000009.11:g.(?_130586563)_(130588971_?)dup duplication Hereditary hemorrhagic telangiectasia [RCV003119325] Chr9:130586563..130588971 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_130586563)_(130587263_?)dup duplication Hereditary hemorrhagic telangiectasia [RCV003119326] Chr9:130586563..130587263 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_130579418)_(130579492_?)del deletion Hereditary hemorrhagic telangiectasia [RCV003119327] Chr9:130579418..130579492 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130578196)_(130581131_?)del deletion Hereditary hemorrhagic telangiectasia [RCV003119328] Chr9:130578196..130581131 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130586573)_(130592116_?)del deletion Hereditary hemorrhagic telangiectasia [RCV003119329] Chr9:130586573..130592116 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NC_000009.11:g.(?_130578196)_(130582336_?)del deletion Hereditary hemorrhagic telangiectasia [RCV003119330] Chr9:130578196..130582336 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130587069)_(130592116_?)dup duplication Hereditary hemorrhagic telangiectasia [RCV003119331] Chr9:130587069..130592116 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.579_580del (p.Leu194fs) deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV003120157] Chr9:127825804..127825805 [GRCh38]
Chr9:130588083..130588084 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.-75G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003121548] Chr9:127854430 [GRCh38]
Chr9:130616709 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.862C>T (p.Arg288Cys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003121550] Chr9:127824929 [GRCh38]
Chr9:130587208 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1361T>G (p.Leu454Arg) single nucleotide variant not provided [RCV004786198] Chr9:127818783 [GRCh38]
Chr9:130581062 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1039A>T (p.Lys347Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV002236394] Chr9:127824399 [GRCh38]
Chr9:130586678 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser) indel Cardiovascular phenotype [RCV002434618]|Hereditary hemorrhagic telangiectasia [RCV003096217]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV003138147]|not provided [RCV002276212] Chr9:127824316..127824317 [GRCh38]
Chr9:130586595..130586596 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_001114753.3(ENG):c.33C>T (p.Ala11=) single nucleotide variant Cardiovascular phenotype [RCV002452033] Chr9:127854323 [GRCh38]
Chr9:130616602 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.361-2A>G single nucleotide variant Cardiovascular phenotype [RCV002452225] Chr9:127826674 [GRCh38]
Chr9:130588953 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.*431T>G single nucleotide variant not provided [RCV002263515] Chr9:127815251 [GRCh38]
Chr9:130577530 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.282G>A (p.Glu94=) single nucleotide variant Cardiovascular phenotype [RCV002435105] Chr9:127829765 [GRCh38]
Chr9:130592044 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1311+114del deletion See cases [RCV002271977] Chr9:127819508 [GRCh38]
Chr9:130581787 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1151T>G (p.Ile384Ser) single nucleotide variant Cardiovascular phenotype [RCV002349040] Chr9:127820021 [GRCh38]
Chr9:130582300 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_001114753.3(ENG):c.182T>C (p.Ile61Thr) single nucleotide variant not provided [RCV002293675] Chr9:127843131 [GRCh38]
Chr9:130605410 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1139dup (p.Leu380fs) duplication Cardiovascular phenotype [RCV002454766] Chr9:127820032..127820033 [GRCh38]
Chr9:130582311..130582312 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.361-2A>T single nucleotide variant Cardiovascular phenotype [RCV002452226]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV003120905] Chr9:127826674 [GRCh38]
Chr9:130588953 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1002_1003delinsCT (p.Gln335Ter) indel Cardiovascular phenotype [RCV002385795] Chr9:127824435..127824436 [GRCh38]
Chr9:130586714..130586715 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1962C>A (p.Thr654=) single nucleotide variant Cardiovascular phenotype [RCV002421768] Chr9:127815697 [GRCh38]
Chr9:130577976 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.360+2dup duplication Cardiovascular phenotype [RCV002455204]|Hereditary hemorrhagic telangiectasia [RCV003099610]|not provided [RCV004697214] Chr9:127829684..127829685 [GRCh38]
Chr9:130591963..130591964 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.1331A>G (p.Asn444Ser) single nucleotide variant Cardiovascular phenotype [RCV002387496]|not provided [RCV003325604] Chr9:127818813 [GRCh38]
Chr9:130581092 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.740del (p.Leu247fs) deletion Cardiovascular phenotype [RCV002384922] Chr9:127825307 [GRCh38]
Chr9:130587586 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1104del (p.Met368fs) deletion Cardiovascular phenotype [RCV002452797] Chr9:127824334 [GRCh38]
Chr9:130586613 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1071_1080dup (p.Thr361fs) duplication Cardiovascular phenotype [RCV002421682] Chr9:127824357..127824358 [GRCh38]
Chr9:130586636..130586637 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.95T>A (p.Leu32His) single nucleotide variant Cardiovascular phenotype [RCV002385295]|Hereditary hemorrhagic telangiectasia [RCV003103594] Chr9:127843218 [GRCh38]
Chr9:130605497 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.545G>A (p.Cys182Tyr) single nucleotide variant Cardiovascular phenotype [RCV002349710] Chr9:127825839 [GRCh38]
Chr9:130588118 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1311+2T>G single nucleotide variant Cardiovascular phenotype [RCV002385444] Chr9:127819620 [GRCh38]
Chr9:130581899 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1312-2A>G single nucleotide variant Cardiovascular phenotype [RCV002385472] Chr9:127818834 [GRCh38]
Chr9:130581113 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1310G>C (p.Arg437Pro) single nucleotide variant Cardiovascular phenotype [RCV002385440] Chr9:127819623 [GRCh38]
Chr9:130581902 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1146C>G (p.Cys382Trp) single nucleotide variant Cardiovascular phenotype [RCV002454847] Chr9:127820026 [GRCh38]
Chr9:130582305 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.816+5G>C single nucleotide variant Cardiovascular phenotype [RCV002421435] Chr9:127825226 [GRCh38]
Chr9:130587505 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1148C>G (p.Thr383Ser) single nucleotide variant Cardiovascular phenotype [RCV002455152] Chr9:127820024 [GRCh38]
Chr9:130582303 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.635_654del (p.Val212fs) deletion Cardiovascular phenotype [RCV002368982]|Hereditary hemorrhagic telangiectasia [RCV003759146] Chr9:127825730..127825749 [GRCh38]
Chr9:130588009..130588028 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1311+1G>C single nucleotide variant Cardiovascular phenotype [RCV002385442] Chr9:127819621 [GRCh38]
Chr9:130581900 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1311+2T>A single nucleotide variant Cardiovascular phenotype [RCV002385443]|Hereditary hemorrhagic telangiectasia [RCV003594256] Chr9:127819620 [GRCh38]
Chr9:130581899 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.272G>A (p.Trp91Ter) single nucleotide variant Cardiovascular phenotype [RCV002437473]|Hereditary hemorrhagic telangiectasia [RCV003594298] Chr9:127829775 [GRCh38]
Chr9:130592054 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.263del (p.Asn88fs) deletion Cardiovascular phenotype [RCV002452971] Chr9:127829784 [GRCh38]
Chr9:130592063 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.-2G>A single nucleotide variant not provided [RCV003156430] Chr9:127854357 [GRCh38]
Chr9:130616636 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.875dup (p.Asp294fs) duplication Hereditary hemorrhagic telangiectasia [RCV002991773] Chr9:127824915..127824916 [GRCh38]
Chr9:130587194..130587195 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1860C>A (p.Pro620=) single nucleotide variant Cardiovascular phenotype [RCV002414913] Chr9:127815799 [GRCh38]
Chr9:130578078 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1884G>A (p.Ala628=) single nucleotide variant Cardiovascular phenotype [RCV002415370] Chr9:127815775 [GRCh38]
Chr9:130578054 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.493C>G (p.Pro165Ala) single nucleotide variant Cardiovascular phenotype [RCV002342674] Chr9:127826540 [GRCh38]
Chr9:130588819 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.111del (p.Glu38fs) deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV002466923] Chr9:127843202 [GRCh38]
Chr9:130605481 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1926C>T (p.His642=) single nucleotide variant Cardiovascular phenotype [RCV002410806] Chr9:127815733 [GRCh38]
Chr9:130578012 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1857C>A (p.Ser619=) single nucleotide variant Cardiovascular phenotype [RCV002413109] Chr9:127815802 [GRCh38]
Chr9:130578081 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1082C>T (p.Thr361Ile) single nucleotide variant not specified [RCV004700150] Chr9:127824356 [GRCh38]
Chr9:130586635 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1301C>G (p.Ser434Ter) single nucleotide variant Cardiovascular phenotype [RCV002380858]|Hereditary hemorrhagic telangiectasia [RCV003594254] Chr9:127819632 [GRCh38]
Chr9:130581911 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.239T>A (p.Leu80Gln) single nucleotide variant Cardiovascular phenotype [RCV002459640] Chr9:127829808 [GRCh38]
Chr9:130592087 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1042_1054del (p.Asp348fs) deletion Cardiovascular phenotype [RCV002392394] Chr9:127824384..127824396 [GRCh38]
Chr9:130586663..130586675 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.154G>C (p.Gly52Arg) single nucleotide variant Cardiovascular phenotype [RCV002403349] Chr9:127843159 [GRCh38]
Chr9:130605438 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1686+1G>C single nucleotide variant Cardiovascular phenotype [RCV002406084] Chr9:127818119 [GRCh38]
Chr9:130580398 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.908C>A (p.Ala303Asp) single nucleotide variant Cardiovascular phenotype [RCV002449991]|Hereditary hemorrhagic telangiectasia [RCV005097308] Chr9:127824883 [GRCh38]
Chr9:130587162 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.917_918del (p.Leu306fs) deletion Cardiovascular phenotype [RCV002378870] Chr9:127824873..127824874 [GRCh38]
Chr9:130587152..130587153 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1122_1125del (p.Lys374fs) deletion Cardiovascular phenotype [RCV002440245] Chr9:127824313..127824316 [GRCh38]
Chr9:130586592..130586595 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1088dup (p.Cys363fs) duplication Cardiovascular phenotype [RCV002428330] Chr9:127824349..127824350 [GRCh38]
Chr9:130586628..130586629 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.689+1G>T single nucleotide variant Cardiovascular phenotype [RCV002362284]|Hereditary hemorrhagic telangiectasia [RCV003103343] Chr9:127825694 [GRCh38]
Chr9:130587973 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1883C>T (p.Ala628Val) single nucleotide variant Cardiovascular phenotype [RCV002415345] Chr9:127815776 [GRCh38]
Chr9:130578055 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.992G>T (p.Gly331Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002304936] Chr9:127824446 [GRCh38]
Chr9:130586725 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1211T>C (p.Val404Ala) single nucleotide variant Cardiovascular phenotype [RCV002355851]|Hereditary hemorrhagic telangiectasia [RCV005096867] Chr9:127819961 [GRCh38]
Chr9:130582240 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
NM_001114753.3(ENG):c.647del (p.Lys216fs) deletion Cardiovascular phenotype [RCV002356197] Chr9:127825737 [GRCh38]
Chr9:130588016 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1655C>T (p.Ala552Val) single nucleotide variant Cardiovascular phenotype [RCV002403719]|Hereditary hemorrhagic telangiectasia [RCV003594268] Chr9:127818151 [GRCh38]
Chr9:130580430 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1429-2del deletion Cardiovascular phenotype [RCV002391997] Chr9:127818379 [GRCh38]
Chr9:130580658 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1296C>T (p.Ser432=) single nucleotide variant Cardiovascular phenotype [RCV002380655]|Hereditary hemorrhagic telangiectasia [RCV005058586] Chr9:127819637 [GRCh38]
Chr9:130581916 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1297dup (p.Ser433fs) duplication Cardiovascular phenotype [RCV002380682]|Hereditary hemorrhagic telangiectasia [RCV005097412] Chr9:127819635..127819636 [GRCh38]
Chr9:130581914..130581915 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.700dup (p.Val234fs) duplication Cardiovascular phenotype [RCV002364822] Chr9:127825346..127825347 [GRCh38]
Chr9:130587625..130587626 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1718A>T (p.Asn573Ile) single nucleotide variant Cardiovascular phenotype [RCV002398990] Chr9:127817172 [GRCh38]
Chr9:130579451 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.615G>A (p.Arg205=) single nucleotide variant Cardiovascular phenotype [RCV002353648] Chr9:127825769 [GRCh38]
Chr9:130588048 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.3G>T (p.Met1Ile) single nucleotide variant Cardiovascular phenotype [RCV002375655] Chr9:127854353 [GRCh38]
Chr9:130616632 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.916del (p.Leu306fs) deletion Cardiovascular phenotype [RCV002378859] Chr9:127824875 [GRCh38]
Chr9:130587154 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1494del (p.Pro499fs) deletion Cardiovascular phenotype [RCV002389764] Chr9:127818312 [GRCh38]
Chr9:130580591 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1440_1449del (p.Val483fs) deletion Cardiovascular phenotype [RCV002394344] Chr9:127818357..127818366 [GRCh38]
Chr9:130580636..130580645 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.402C>T (p.Asn134=) single nucleotide variant Cardiovascular phenotype [RCV002375748] Chr9:127826631 [GRCh38]
Chr9:130588910 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.917T>C (p.Leu306Pro) single nucleotide variant Cardiovascular phenotype [RCV002378899] Chr9:127824874 [GRCh38]
Chr9:130587153 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.445dup (p.Trp149fs) duplication Cardiovascular phenotype [RCV002328414] Chr9:127826587..127826588 [GRCh38]
Chr9:130588866..130588867 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.238C>T (p.Leu80=) single nucleotide variant Cardiovascular phenotype [RCV002459559]|Hereditary hemorrhagic telangiectasia [RCV003759730] Chr9:127829809 [GRCh38]
Chr9:130592088 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.313_314del (p.Val105fs) microsatellite Cardiovascular phenotype [RCV002320587] Chr9:127829733..127829734 [GRCh38]
Chr9:130592012..130592013 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.920A>T (p.Asn307Ile) single nucleotide variant Cardiovascular phenotype [RCV002371252]|Hereditary hemorrhagic telangiectasia [RCV003594246] Chr9:127824871 [GRCh38]
Chr9:130587150 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.990C>A (p.Cys330Ter) single nucleotide variant Cardiovascular phenotype [RCV002382786]|Hereditary hemorrhagic telangiectasia [RCV003759659]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV004594644] Chr9:127824801 [GRCh38]
Chr9:130587080 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.239del (p.Leu80fs) deletion Cardiovascular phenotype [RCV002459638]|Hereditary hemorrhagic telangiectasia [RCV003098852] Chr9:127829808 [GRCh38]
Chr9:130592087 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.451_470delinsTCTGCTG (p.Ala151fs) indel Cardiovascular phenotype [RCV002339914] Chr9:127826563..127826582 [GRCh38]
Chr9:130588842..130588861 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.249G>T (p.Gln83His) single nucleotide variant Cardiovascular phenotype [RCV002431055] Chr9:127829798 [GRCh38]
Chr9:130592077 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.992-5C>G single nucleotide variant Cardiovascular phenotype [RCV002382844] Chr9:127824451 [GRCh38]
Chr9:130586730 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.582_583insCATG (p.Glu195fs) insertion Cardiovascular phenotype [RCV002353153]|Hereditary hemorrhagic telangiectasia [RCV005096848] Chr9:127825801..127825802 [GRCh38]
Chr9:130588080..130588081 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.858C>T (p.Asn286=) single nucleotide variant Cardiovascular phenotype [RCV002447921] Chr9:127824933 [GRCh38]
Chr9:130587212 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.121G>T (p.Glu41Ter) single nucleotide variant Cardiovascular phenotype [RCV002353988] Chr9:127843192 [GRCh38]
Chr9:130605471 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.502A>T (p.Ile168Phe) single nucleotide variant Cardiovascular phenotype [RCV002335610] Chr9:127826531 [GRCh38]
Chr9:130588810 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.906G>A (p.Glu302=) single nucleotide variant Cardiovascular phenotype [RCV002378551] Chr9:127824885 [GRCh38]
Chr9:130587164 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1890T>G (p.Ala630=) single nucleotide variant Cardiovascular phenotype [RCV002408027] Chr9:127815769 [GRCh38]
Chr9:130578048 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1494G>A (p.Gly498=) single nucleotide variant Cardiovascular phenotype [RCV002389771] Chr9:127818312 [GRCh38]
Chr9:130580591 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.828del (p.Glu276fs) deletion Cardiovascular phenotype [RCV002430271]|Hereditary hemorrhagic telangiectasia [RCV003759648] Chr9:127824963 [GRCh38]
Chr9:130587242 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1613_1614del (p.Thr538fs) microsatellite Cardiovascular phenotype [RCV002400933] Chr9:127818192..127818193 [GRCh38]
Chr9:130580471..130580472 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.1:c.1687delG deletion Cardiovascular phenotype [RCV002406108]   pathogenic
NM_001114753.3(ENG):c.1465_1466del (p.Gln489fs) deletion Cardiovascular phenotype [RCV002396801] Chr9:127818340..127818341 [GRCh38]
Chr9:130580619..130580620 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1003C>T (p.Gln335Ter) single nucleotide variant Cardiovascular phenotype [RCV002405361]|Hereditary hemorrhagic telangiectasia [RCV003096932] Chr9:127824435 [GRCh38]
Chr9:130586714 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.681C>T (p.His227=) single nucleotide variant Cardiovascular phenotype [RCV002369586] Chr9:127825703 [GRCh38]
Chr9:130587982 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1109T>C (p.Leu370Pro) single nucleotide variant Cardiovascular phenotype [RCV002428851] Chr9:127824329 [GRCh38]
Chr9:130586608 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1290G>C (p.Leu430=) single nucleotide variant Cardiovascular phenotype [RCV002380536] Chr9:127819643 [GRCh38]
Chr9:130581922 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1134+1G>T single nucleotide variant Cardiovascular phenotype [RCV002324714] Chr9:127824303 [GRCh38]
Chr9:130586582 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1214_1219del (p.Leu405_Ser407delinsCys) deletion Cardiovascular phenotype [RCV002358031] Chr9:127819953..127819958 [GRCh38]
Chr9:130582232..130582237 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.35T>G (p.Leu12Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002300118] Chr9:127854321 [GRCh38]
Chr9:130616600 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.950T>C (p.Leu317Pro) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002296235] Chr9:127824841 [GRCh38]
Chr9:130587120 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.701_705dup (p.Val236Ter) duplication Cardiovascular phenotype [RCV002364834] Chr9:127825341..127825342 [GRCh38]
Chr9:130587620..130587621 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1643_1653delinsCCGCAGCT (p.Ser548_Val551delinsThrAlaAla) indel Cardiovascular phenotype [RCV002403581] Chr9:127818153..127818163 [GRCh38]
Chr9:130580432..130580442 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.878del (p.Pro293fs) deletion Cardiovascular phenotype [RCV002373667] Chr9:127824913 [GRCh38]
Chr9:130587192 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.752T>A (p.Leu251His) single nucleotide variant Cardiovascular phenotype [RCV002393877]|Hereditary hemorrhagic telangiectasia [RCV003099670] Chr9:127825295 [GRCh38]
Chr9:130587574 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.503TCC[2] (p.Leu170del) microsatellite Cardiovascular phenotype [RCV002335931] Chr9:127826522..127826524 [GRCh38]
Chr9:130588801..130588803 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.707T>C (p.Val236Ala) single nucleotide variant Cardiovascular phenotype [RCV002365132] Chr9:127825340 [GRCh38]
Chr9:130587619 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.523+5G>C single nucleotide variant Cardiovascular phenotype [RCV002340857] Chr9:127826505 [GRCh38]
Chr9:130588784 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.919_920del (p.Asn307fs) deletion Cardiovascular phenotype [RCV002378931] Chr9:127824871..127824872 [GRCh38]
Chr9:130587150..130587151 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.457_458dup (p.Pro155fs) microsatellite Cardiovascular phenotype [RCV002342133] Chr9:127826574..127826575 [GRCh38]
Chr9:130588853..130588854 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1120A>G (p.Lys374Glu) single nucleotide variant Cardiovascular phenotype [RCV002439860] Chr9:127824318 [GRCh38]
Chr9:130586597 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1656C>T (p.Ala552=) single nucleotide variant Cardiovascular phenotype [RCV002403736] Chr9:127818150 [GRCh38]
Chr9:130580429 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1383C>T (p.Leu461=) single nucleotide variant Cardiovascular phenotype [RCV002381213] Chr9:127818761 [GRCh38]
Chr9:130581040 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.457dup (p.Arg153fs) duplication Cardiovascular phenotype [RCV002342195] Chr9:127826575..127826576 [GRCh38]
Chr9:130588854..130588855 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1488_1498delinsATTGGGCCTT (p.Asp496fs) indel Cardiovascular phenotype [RCV002389616] Chr9:127818308..127818318 [GRCh38]
Chr9:130580587..130580597 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.619del (p.Cys207fs) deletion Cardiovascular phenotype [RCV002353842] Chr9:127825765 [GRCh38]
Chr9:130588044 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1662T>C (p.Arg554=) single nucleotide variant Cardiovascular phenotype [RCV002403854] Chr9:127818144 [GRCh38]
Chr9:130580423 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.291G>T (p.Leu97=) single nucleotide variant Cardiovascular phenotype [RCV002439949] Chr9:127829756 [GRCh38]
Chr9:130592035 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.956T>G (p.Leu319Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002299696] Chr9:127824835 [GRCh38]
Chr9:130587114 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1170G>A (p.Trp390Ter) single nucleotide variant Cardiovascular phenotype [RCV002331870]|Hereditary hemorrhagic telangiectasia [RCV003775864]|not provided [RCV004721049] Chr9:127820002 [GRCh38]
Chr9:130582281 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.447G>A (p.Trp149Ter) single nucleotide variant Cardiovascular phenotype [RCV002328550] Chr9:127826586 [GRCh38]
Chr9:130588865 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1900T>G (p.Ser634Ala) single nucleotide variant Cardiovascular phenotype [RCV002408265] Chr9:127815759 [GRCh38]
Chr9:130578038 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.439_440insAAGC (p.Leu147fs) insertion Cardiovascular phenotype [RCV002333647] Chr9:127826593..127826594 [GRCh38]
Chr9:130588872..130588873 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1509_1510insCCAC (p.Val504fs) insertion Cardiovascular phenotype [RCV002390043] Chr9:127818296..127818297 [GRCh38]
Chr9:130580575..130580576 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1088G>A (p.Cys363Tyr) single nucleotide variant Cardiovascular phenotype [RCV002428362]|ENG-related disorder [RCV003984260] Chr9:127824350 [GRCh38]
Chr9:130586629 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1904C>T (p.Ser635Leu) single nucleotide variant Cardiovascular phenotype [RCV002408314]|ENG-related disorder [RCV003418519] Chr9:127815755 [GRCh38]
Chr9:130578034 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.523G>A (p.Ala175Thr) single nucleotide variant Cardiovascular phenotype [RCV002344335]|Hereditary hemorrhagic telangiectasia [RCV003994427] Chr9:127826510 [GRCh38]
Chr9:130588789 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.523G>C (p.Ala175Pro) single nucleotide variant Cardiovascular phenotype [RCV002344336]|Hereditary hemorrhagic telangiectasia [RCV005096756] Chr9:127826510 [GRCh38]
Chr9:130588789 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.524-1G>T single nucleotide variant Cardiovascular phenotype [RCV002344338] Chr9:127825861 [GRCh38]
Chr9:130588140 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.391_392dup (p.Gly132fs) duplication Cardiovascular phenotype [RCV002373135] Chr9:127826640..127826641 [GRCh38]
Chr9:130588919..130588920 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.832T>C (p.Ser278Pro) single nucleotide variant Cardiovascular phenotype [RCV002412580]|Hereditary hemorrhagic telangiectasia [RCV003594243] Chr9:127824959 [GRCh38]
Chr9:130587238 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.822del (p.Gly275fs) deletion Cardiovascular phenotype [RCV002412523] Chr9:127824969 [GRCh38]
Chr9:130587248 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1205_1208dup (p.Phe403fs) duplication Cardiovascular phenotype [RCV002344834] Chr9:127819963..127819964 [GRCh38]
Chr9:130582242..130582243 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.595dup (p.Arg199fs) duplication Cardiovascular phenotype [RCV002355990]|Hereditary hemorrhagic telangiectasia [RCV003594224] Chr9:127825788..127825789 [GRCh38]
Chr9:130588067..130588068 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.591G>A (p.Arg197=) single nucleotide variant Cardiovascular phenotype [RCV002355804]|Hereditary hemorrhagic telangiectasia [RCV003098058] Chr9:127825793 [GRCh38]
Chr9:130588072 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.699G>A (p.Thr233=) single nucleotide variant Cardiovascular phenotype [RCV002364718]|Hereditary hemorrhagic telangiectasia [RCV003098443] Chr9:127825348 [GRCh38]
Chr9:130587627 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.1920C>G (p.Thr640=) single nucleotide variant Cardiovascular phenotype [RCV002410700] Chr9:127815739 [GRCh38]
Chr9:130578018 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1064T>C (p.Leu355Pro) single nucleotide variant Cardiovascular phenotype [RCV002413013]|Hereditary hemorrhagic telangiectasia [RCV003594274] Chr9:127824374 [GRCh38]
Chr9:130586653 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1146C>A (p.Cys382Ter) single nucleotide variant Cardiovascular phenotype [RCV002337620] Chr9:127820026 [GRCh38]
Chr9:130582305 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1923C>T (p.Asn641=) single nucleotide variant Cardiovascular phenotype [RCV002410759] Chr9:127815736 [GRCh38]
Chr9:130578015 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.157T>C (p.Cys53Arg) single nucleotide variant Cardiovascular phenotype [RCV002405785]|Hereditary hemorrhagic telangiectasia [RCV003759685] Chr9:127843156 [GRCh38]
Chr9:130605435 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1429-5T>G single nucleotide variant Cardiovascular phenotype [RCV002391999] Chr9:127818382 [GRCh38]
Chr9:130580661 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1176del (p.Ser393fs) deletion Cardiovascular phenotype [RCV002328449]|Hereditary hemorrhagic telangiectasia [RCV003094714] Chr9:127819996 [GRCh38]
Chr9:130582275 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.674dup (p.His227fs) duplication Cardiovascular phenotype [RCV002377958] Chr9:127825709..127825710 [GRCh38]
Chr9:130587988..130587989 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.171C>T (p.Ala57=) single nucleotide variant Cardiovascular phenotype [RCV002399031]|Hereditary hemorrhagic telangiectasia [RCV003097165] Chr9:127843142 [GRCh38]
Chr9:130605421 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1682_1686+15del deletion Cardiovascular phenotype [RCV002414544] Chr9:127818105..127818124 [GRCh38]
Chr9:130580384..130580403 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.614G>C (p.Arg205Pro) single nucleotide variant Cardiovascular phenotype [RCV002360429]|Hereditary hemorrhagic telangiectasia [RCV003759144] Chr9:127825770 [GRCh38]
Chr9:130588049 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.841del (p.Ile281fs) deletion Cardiovascular phenotype [RCV002445882] Chr9:127824950 [GRCh38]
Chr9:130587229 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.258del (p.Lys86fs) deletion Cardiovascular phenotype [RCV002426133] Chr9:127829789 [GRCh38]
Chr9:130592068 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1181dup (p.Cys394fs) duplication Cardiovascular phenotype [RCV002335160] Chr9:127819990..127819991 [GRCh38]
Chr9:130582269..130582270 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.991+1G>C single nucleotide variant Cardiovascular phenotype [RCV002382809] Chr9:127824799 [GRCh38]
Chr9:130587078 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1935G>A (p.Gly645=) single nucleotide variant Cardiovascular phenotype [RCV002410986] Chr9:127815724 [GRCh38]
Chr9:130578003 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.564G>A (p.Gln188=) single nucleotide variant Cardiovascular phenotype [RCV002345183] Chr9:127825820 [GRCh38]
Chr9:130588099 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.766_767delinsA (p.Pro256fs) indel Cardiovascular phenotype [RCV002396451] Chr9:127825280..127825281 [GRCh38]
Chr9:130587559..130587560 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1733_1737del (p.Asp578fs) deletion Cardiovascular phenotype [RCV002399206]|Hereditary hemorrhagic telangiectasia [RCV003594270] Chr9:127817153..127817157 [GRCh38]
Chr9:130579432..130579436 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1251_1260delinsTTAC (p.Ala418_Met420delinsTyr) indel Cardiovascular phenotype [RCV002409926] Chr9:127819912..127819921 [GRCh38]
Chr9:130582191..130582200 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1517T>C (p.Leu506Pro) single nucleotide variant Cardiovascular phenotype [RCV002392350]|Hereditary hemorrhagic telangiectasia [RCV005097565] Chr9:127818289 [GRCh38]
Chr9:130580568 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.581_582del (p.Leu194fs) deletion Cardiovascular phenotype [RCV002353112] Chr9:127825802..127825803 [GRCh38]
Chr9:130588081..130588082 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1639_1645dup (p.Cys549fs) duplication Cardiovascular phenotype [RCV002403501] Chr9:127818160..127818161 [GRCh38]
Chr9:130580439..130580440 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.582_584del (p.Glu195del) deletion Cardiovascular phenotype [RCV002353154] Chr9:127825800..127825802 [GRCh38]
Chr9:130588079..130588081 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.63del (p.Thr22fs) deletion Cardiovascular phenotype [RCV002361563]|Hereditary hemorrhagic telangiectasia [RCV003098234] Chr9:127854293 [GRCh38]
Chr9:130616572 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1821T>C (p.Thr607=) single nucleotide variant Cardiovascular phenotype [RCV002410368] Chr9:127815974 [GRCh38]
Chr9:130578253 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1725C>T (p.Ile575=) single nucleotide variant Cardiovascular phenotype [RCV002399112] Chr9:127817165 [GRCh38]
Chr9:130579444 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.910del (p.Arg304fs) deletion Cardiovascular phenotype [RCV002378665] Chr9:127824881 [GRCh38]
Chr9:130587160 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.613dup (p.Arg205fs) duplication Hereditary hemorrhagic telangiectasia [RCV003032989] Chr9:127825770..127825771 [GRCh38]
Chr9:130588049..130588050 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1273-14C>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002972204] Chr9:127819674 [GRCh38]
Chr9:130581953 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1741+8C>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003016071] Chr9:127817141 [GRCh38]
Chr9:130579420 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.651G>A (p.Glu217=) single nucleotide variant Cardiovascular phenotype [RCV004617173]|Hereditary hemorrhagic telangiectasia [RCV003074187] Chr9:127825733 [GRCh38]
Chr9:130588012 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.283G>T (p.Val95Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002903793] Chr9:127829764 [GRCh38]
Chr9:130592043 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1369dup (p.Ser457fs) duplication Hereditary hemorrhagic telangiectasia [RCV002863386] Chr9:127818774..127818775 [GRCh38]
Chr9:130581053..130581054 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.549G>A (p.Met183Ile) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002775870] Chr9:127825835 [GRCh38]
Chr9:130588114 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.581_605del (p.Leu194fs) deletion Hereditary hemorrhagic telangiectasia [RCV002861791] Chr9:127825779..127825803 [GRCh38]
Chr9:130588058..130588082 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1099G>A (p.Ala367Thr) single nucleotide variant Cardiovascular phenotype [RCV004109057]|Hereditary hemorrhagic telangiectasia [RCV005099626]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV005045405] Chr9:127824339 [GRCh38]
Chr9:130586618 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.-12C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003074671] Chr9:127854367 [GRCh38]
Chr9:130616646 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.992-8C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002775793] Chr9:127824454 [GRCh38]
Chr9:130586733 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1301C>T (p.Ser434Leu) single nucleotide variant Cardiovascular phenotype [RCV004100277] Chr9:127819632 [GRCh38]
Chr9:130581911 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.198C>T (p.Val66=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003077115] Chr9:127843115 [GRCh38]
Chr9:130605394 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1209T>C (p.Phe403=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003097597] Chr9:127819963 [GRCh38]
Chr9:130582242 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.327C>G (p.Leu109=) single nucleotide variant Cardiovascular phenotype [RCV004990925]|Hereditary hemorrhagic telangiectasia [RCV002947987] Chr9:127829720 [GRCh38]
Chr9:130591999 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.-94C>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003074812] Chr9:127854449 [GRCh38]
Chr9:130616728 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.973dup (p.Leu325fs) duplication Hereditary hemorrhagic telangiectasia [RCV003013178] Chr9:127824817..127824818 [GRCh38]
Chr9:130587096..130587097 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1402G>A (p.Glu468Lys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002903712] Chr9:127818742 [GRCh38]
Chr9:130581021 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.1429-16C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002968031] Chr9:127818393 [GRCh38]
Chr9:130580672 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.278del (p.Arg93fs) deletion Hereditary hemorrhagic telangiectasia [RCV003013250] Chr9:127829769 [GRCh38]
Chr9:130592048 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1317G>C (p.Lys439Asn) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002842373] Chr9:127818827 [GRCh38]
Chr9:130581106 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.192C>T (p.Val64=) single nucleotide variant Cardiovascular phenotype [RCV004990974]|Hereditary hemorrhagic telangiectasia [RCV003033961] Chr9:127843121 [GRCh38]
Chr9:130605400 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.816+11C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002755225] Chr9:127825220 [GRCh38]
Chr9:130587499 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1312-19C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003074290] Chr9:127818851 [GRCh38]
Chr9:130581130 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.-117C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002730443] Chr9:127854472 [GRCh38]
Chr9:130616751 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1852+3G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002904841] Chr9:127815940 [GRCh38]
Chr9:130578219 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1868G>A (p.Arg623Gln) single nucleotide variant Cardiovascular phenotype [RCV004126002] Chr9:127815791 [GRCh38]
Chr9:130578070 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-112C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002972121] Chr9:127854467 [GRCh38]
Chr9:130616746 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.974T>A (p.Leu325His) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002794866] Chr9:127824817 [GRCh38]
Chr9:130587096 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.924_927dup (p.Ile310fs) duplication Hereditary hemorrhagic telangiectasia [RCV002972348] Chr9:127824863..127824864 [GRCh38]
Chr9:130587142..130587143 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.660C>T (p.Ile220=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003073982] Chr9:127825724 [GRCh38]
Chr9:130588003 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1655C>A (p.Ala552Asp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002908534] Chr9:127818151 [GRCh38]
Chr9:130580430 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.497A>G (p.Gln166Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002913192] Chr9:127826536 [GRCh38]
Chr9:130588815 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1532C>A (p.Ala511Glu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002885538] Chr9:127818274 [GRCh38]
Chr9:130580553 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1515del (p.Glu505fs) deletion Hereditary hemorrhagic telangiectasia [RCV002867200] Chr9:127818291 [GRCh38]
Chr9:130580570 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1270dup (p.Glu424fs) duplication Hereditary hemorrhagic telangiectasia [RCV002866688] Chr9:127819901..127819902 [GRCh38]
Chr9:130582180..130582181 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.68-2A>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003055698] Chr9:127843247 [GRCh38]
Chr9:130605526 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.370C>G (p.Leu124Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002706720] Chr9:127826663 [GRCh38]
Chr9:130588942 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1089T>C (p.Cys363=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002979397] Chr9:127824349 [GRCh38]
Chr9:130586628 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1934G>C (p.Gly645Ala) single nucleotide variant Cardiovascular phenotype [RCV004239071] Chr9:127815725 [GRCh38]
Chr9:130578004 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1826C>T (p.Ala609Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003079095] Chr9:127815969 [GRCh38]
Chr9:130578248 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1278G>A (p.Val426=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002928076] Chr9:127819655 [GRCh38]
Chr9:130581934 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1130T>C (p.Val377Ala) single nucleotide variant Cardiovascular phenotype [RCV004124977] Chr9:127824308 [GRCh38]
Chr9:130586587 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.991+7A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002662875] Chr9:127824793 [GRCh38]
Chr9:130587072 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.933G>T (p.Val311=) single nucleotide variant Cardiovascular phenotype [RCV003162005]|Hereditary hemorrhagic telangiectasia [RCV002620837] Chr9:127824858 [GRCh38]
Chr9:130587137 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.1573G>A (p.Glu525Lys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003077314] Chr9:127818233 [GRCh38]
Chr9:130580512 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1711C>A (p.Arg571Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003077763] Chr9:127817179 [GRCh38]
Chr9:130579458 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.435G>C (p.Gln145His) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002910127] Chr9:127826598 [GRCh38]
Chr9:130588877 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1661G>A (p.Arg554His) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002949111] Chr9:127818145 [GRCh38]
Chr9:130580424 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.524-10G>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002886001] Chr9:127825870 [GRCh38]
Chr9:130588149 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.176A>G (p.Asn59Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002659721] Chr9:127843137 [GRCh38]
Chr9:130605416 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.218_219insTCCA (p.Gly74fs) insertion Hereditary hemorrhagic telangiectasia [RCV002884971] Chr9:127843094..127843095 [GRCh38]
Chr9:130605373..130605374 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1152C>T (p.Ile384=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002912925] Chr9:127820020 [GRCh38]
Chr9:130582299 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.220-12T>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003020994] Chr9:127829839 [GRCh38]
Chr9:130592118 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.944_945del (p.Val315fs) deletion Hereditary hemorrhagic telangiectasia [RCV002979308] Chr9:127824846..127824847 [GRCh38]
Chr9:130587125..130587126 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.146T>A (p.Val49Asp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002820784]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV005045002] Chr9:127843167 [GRCh38]
Chr9:130605446 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.689+16C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003002237] Chr9:127825679 [GRCh38]
Chr9:130587958 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1272+13G>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002795878] Chr9:127819887 [GRCh38]
Chr9:130582166 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.836T>G (p.Phe279Cys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002824994] Chr9:127824955 [GRCh38]
Chr9:130587234 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.885_886del (p.Pro296fs) microsatellite Hereditary hemorrhagic telangiectasia [RCV002619236]|not provided [RCV003481397] Chr9:127824905..127824906 [GRCh38]
Chr9:130587184..130587185 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.639C>T (p.Ala213=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003078173] Chr9:127825745 [GRCh38]
Chr9:130588024 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1664C>A (p.Pro555His) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003080782] Chr9:127818142 [GRCh38]
Chr9:130580421 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1428+20C>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003080608] Chr9:127818696 [GRCh38]
Chr9:130580975 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.410A>G (p.Glu137Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003054916] Chr9:127826623 [GRCh38]
Chr9:130588902 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1429-8C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003078409]|not specified [RCV003994495] Chr9:127818385 [GRCh38]
Chr9:130580664 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.417A>G (p.Pro139=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002795698] Chr9:127826616 [GRCh38]
Chr9:130588895 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.513A>C (p.Arg171=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002979636] Chr9:127826520 [GRCh38]
Chr9:130588799 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.989G>T (p.Cys330Phe) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002760341] Chr9:127824802 [GRCh38]
Chr9:130587081 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.111C>G (p.Pro37=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002576423] Chr9:127843202 [GRCh38]
Chr9:130605481 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1214T>C (p.Leu405Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003059185] Chr9:127819958 [GRCh38]
Chr9:130582237 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.1672G>C (p.Gly558Arg) single nucleotide variant Cardiovascular phenotype [RCV004098219] Chr9:127818134 [GRCh38]
Chr9:130580413 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-78G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003084120] Chr9:127854433 [GRCh38]
Chr9:130616712 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.992-49_1046del deletion Hereditary hemorrhagic telangiectasia [RCV003059747] Chr9:127824392..127824495 [GRCh38]
Chr9:130586671..130586774 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.400A>G (p.Asn134Asp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003026123] Chr9:127826633 [GRCh38]
Chr9:130588912 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.775G>A (p.Val259Met) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002791099] Chr9:127825272 [GRCh38]
Chr9:130587551 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.463_486del (p.Pro155_Leu162del) deletion Hereditary hemorrhagic telangiectasia [RCV003043180] Chr9:127826547..127826570 [GRCh38]
Chr9:130588826..130588849 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1618_1627del (p.Pro540fs) deletion Hereditary hemorrhagic telangiectasia [RCV002876820] Chr9:127818179..127818188 [GRCh38]
Chr9:130580458..130580467 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.412C>T (p.Leu138=) single nucleotide variant Cardiovascular phenotype [RCV004992533]|Hereditary hemorrhagic telangiectasia [RCV002623787] Chr9:127826621 [GRCh38]
Chr9:130588900 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.638C>A (p.Ala213Asp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002933264] Chr9:127825746 [GRCh38]
Chr9:130588025 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.523+16A>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003081898] Chr9:127826494 [GRCh38]
Chr9:130588773 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1478G>T (p.Cys493Phe) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002828202] Chr9:127818328 [GRCh38]
Chr9:130580607 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.697_699del (p.Thr233del) deletion Hereditary hemorrhagic telangiectasia [RCV002871995] Chr9:127825348..127825350 [GRCh38]
Chr9:130587627..130587629 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.716A>G (p.Glu239Gly) single nucleotide variant Cardiovascular phenotype [RCV004148550] Chr9:127825331 [GRCh38]
Chr9:130587610 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.966dup (p.Val323fs) duplication Hereditary hemorrhagic telangiectasia [RCV003055996] Chr9:127824824..127824825 [GRCh38]
Chr9:130587103..130587104 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.574C>T (p.Arg192Cys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002623554] Chr9:127825810 [GRCh38]
Chr9:130588089 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.844T>G (p.Phe282Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003058775] Chr9:127824947 [GRCh38]
Chr9:130587226 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.965T>C (p.Ile322Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003005305] Chr9:127824826 [GRCh38]
Chr9:130587105 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.219+4_219+7del deletion Hereditary hemorrhagic telangiectasia [RCV003025084] Chr9:127843087..127843090 [GRCh38]
Chr9:130605366..130605369 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.153G>C (p.Lys51Asn) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002575209] Chr9:127843160 [GRCh38]
Chr9:130605439 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.706G>A (p.Val236Met) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002625890] Chr9:127825341 [GRCh38]
Chr9:130587620 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.-59C>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003041669] Chr9:127854414 [GRCh38]
Chr9:130616693 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1583dup (p.Arg529fs) duplication Hereditary hemorrhagic telangiectasia [RCV003058234] Chr9:127818222..127818223 [GRCh38]
Chr9:130580501..130580502 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1218C>T (p.Arg406=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002967167] Chr9:127819954 [GRCh38]
Chr9:130582233 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1358del (p.Gly453fs) deletion Hereditary hemorrhagic telangiectasia [RCV002899929] Chr9:127818786 [GRCh38]
Chr9:130581065 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.-111G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003063866] Chr9:127854466 [GRCh38]
Chr9:130616745 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-69G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003065306]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV005045229] Chr9:127854424 [GRCh38]
Chr9:130616703 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-58G>A single nucleotide variant Cardiovascular phenotype [RCV004066292]|Hereditary hemorrhagic telangiectasia [RCV002922032] Chr9:127854413 [GRCh38]
Chr9:130616692 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.932T>G (p.Val311Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003062235] Chr9:127824859 [GRCh38]
Chr9:130587138 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1497T>C (p.Pro499=) single nucleotide variant Cardiovascular phenotype [RCV003167943]|Hereditary hemorrhagic telangiectasia [RCV002937145] Chr9:127818309 [GRCh38]
Chr9:130580588 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.816+8G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002962639] Chr9:127825223 [GRCh38]
Chr9:130587502 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.360+2T>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002835067] Chr9:127829685 [GRCh38]
Chr9:130591964 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1311+1G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003061568]|not provided [RCV005001348] Chr9:127819621 [GRCh38]
Chr9:130581900 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.10G>A (p.Gly4Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002579379] Chr9:127854346 [GRCh38]
Chr9:130616625 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.966T>G (p.Ile322Met) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002647045] Chr9:127824825 [GRCh38]
Chr9:130587104 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1532C>T (p.Ala511Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002770821] Chr9:127818274 [GRCh38]
Chr9:130580553 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.816+13C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003087117] Chr9:127825218 [GRCh38]
Chr9:130587497 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1336G>T (p.Asp446Tyr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002580532] Chr9:127818808 [GRCh38]
Chr9:130581087 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1381_1384del (p.Leu461fs) deletion Hereditary hemorrhagic telangiectasia [RCV002806751] Chr9:127818760..127818763 [GRCh38]
Chr9:130581039..130581042 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.-154C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002806269] Chr9:127854509 [GRCh38]
Chr9:130616788 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.690-19C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002937223] Chr9:127825376 [GRCh38]
Chr9:130587655 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.689+3A>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002675768] Chr9:127825692 [GRCh38]
Chr9:130587971 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1273-21_1273-20delinsAT indel Hereditary hemorrhagic telangiectasia [RCV002895556] Chr9:127819680..127819681 [GRCh38]
Chr9:130581959..130581960 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.437del (p.Ile146fs) deletion Hereditary hemorrhagic telangiectasia [RCV002938213] Chr9:127826596 [GRCh38]
Chr9:130588875 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.809A>G (p.Gln270Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003087897] Chr9:127825238 [GRCh38]
Chr9:130587517 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.613C>A (p.Arg205=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002715745] Chr9:127825771 [GRCh38]
Chr9:130588050 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.119_133del (p.Gly40_Thr45delinsAla) deletion Hereditary hemorrhagic telangiectasia [RCV002811456] Chr9:127843180..127843194 [GRCh38]
Chr9:130605459..130605473 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.45C>T (p.Ala15=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002770949] Chr9:127854311 [GRCh38]
Chr9:130616590 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.524-11T>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002671735] Chr9:127825871 [GRCh38]
Chr9:130588150 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.872_874delinsT (p.Lys291fs) indel Hereditary hemorrhagic telangiectasia [RCV003010274] Chr9:127824917..127824919 [GRCh38]
Chr9:130587196..130587198 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.392dup (p.Val133fs) duplication ENG-related disorder [RCV004753584]|Hereditary hemorrhagic telangiectasia [RCV002877287]|not provided [RCV003481341] Chr9:127826640..127826641 [GRCh38]
Chr9:130588919..130588920 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.441T>C (p.Leu147=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002833894] Chr9:127826592 [GRCh38]
Chr9:130588871 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1414C>T (p.Gln472Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003062233] Chr9:127818730 [GRCh38]
Chr9:130581009 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1311+2T>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003062234]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV004594664] Chr9:127819620 [GRCh38]
Chr9:130581899 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.219+12A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002715724] Chr9:127843082 [GRCh38]
Chr9:130605361 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1273-14C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003088258] Chr9:127819674 [GRCh38]
Chr9:130581953 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1290G>A (p.Leu430=) single nucleotide variant Cardiovascular phenotype [RCV003161948]|Hereditary hemorrhagic telangiectasia [RCV002599925] Chr9:127819643 [GRCh38]
Chr9:130581922 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.269C>T (p.Thr90Ile) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002633530] Chr9:127829778 [GRCh38]
Chr9:130592057 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.568A>G (p.Met190Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003092575] Chr9:127825816 [GRCh38]
Chr9:130588095 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1300T>A (p.Ser434Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002943181] Chr9:127819633 [GRCh38]
Chr9:130581912 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.26C>G (p.Ala9Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003051535] Chr9:127854330 [GRCh38]
Chr9:130616609 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-115G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002603057] Chr9:127854470 [GRCh38]
Chr9:130616749 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.673C>A (p.Pro225Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003093665] Chr9:127825711 [GRCh38]
Chr9:130587990 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1311+15C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003066954] Chr9:127819607 [GRCh38]
Chr9:130581886 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1742-16C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003070381] Chr9:127816069 [GRCh38]
Chr9:130578348 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.1453G>A (p.Glu485Lys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003071591] Chr9:127818353 [GRCh38]
Chr9:130580632 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.482A>C (p.Glu161Ala) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002609678] Chr9:127826551 [GRCh38]
Chr9:130588830 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-133C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003072996] Chr9:127854488 [GRCh38]
Chr9:130616767 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-24C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002606921] Chr9:127854379 [GRCh38]
Chr9:130616658 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1134+16C>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002607256] Chr9:127824288 [GRCh38]
Chr9:130586567 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.689+20C>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003092448] Chr9:127825675 [GRCh38]
Chr9:130587954 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.854A>G (p.Lys285Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002611022] Chr9:127824937 [GRCh38]
Chr9:130587216 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.830A>G (p.Tyr277Cys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002586698] Chr9:127824961 [GRCh38]
Chr9:130587240 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1100C>G (p.Ala367Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003069953] Chr9:127824338 [GRCh38]
Chr9:130586617 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-21A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002634090] Chr9:127854376 [GRCh38]
Chr9:130616655 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1673G>A (p.Gly558Glu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003072643] Chr9:127818133 [GRCh38]
Chr9:130580412 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.189A>G (p.Glu63=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002612139] Chr9:127843124 [GRCh38]
Chr9:130605403 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1365C>T (p.Tyr455=) single nucleotide variant Cardiovascular phenotype [RCV004992552]|Hereditary hemorrhagic telangiectasia [RCV002654958] Chr9:127818779 [GRCh38]
Chr9:130581058 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.1742-19T>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002590095] Chr9:127816072 [GRCh38]
Chr9:130578351 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1108C>G (p.Leu370Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV002612613] Chr9:127824330 [GRCh38]
Chr9:130586609 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1669A>G (p.Thr557Ala) single nucleotide variant not provided [RCV004795145] Chr9:127818137 [GRCh38]
Chr9:130580416 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1833G>A (p.Trp611Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005105113]|not provided [RCV004792212] Chr9:127815962 [GRCh38]
Chr9:130578241 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1101dup (p.Met368fs) duplication not provided [RCV004792213] Chr9:127824336..127824337 [GRCh38]
Chr9:130586615..130586616 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1530G>T (p.Arg510=) single nucleotide variant Cardiovascular phenotype [RCV003278246] Chr9:127818276 [GRCh38]
Chr9:130580555 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1853-8_1853-3del microsatellite Cardiovascular phenotype [RCV004285593]|ENG-related disorder [RCV003900987]|not provided [RCV003223314] Chr9:127815809..127815814 [GRCh38]
Chr9:130578088..130578093 [GRCh37]
Chr9:9q34.11		 benign|likely benign
NM_001114753.3(ENG):c.1099_1102del (p.Asp366_Ala367insTer) deletion Cardiovascular phenotype [RCV003177425] Chr9:127824336..127824339 [GRCh38]
Chr9:130586615..130586618 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1905G>A (p.Ser635=) single nucleotide variant Cardiovascular phenotype [RCV003177426] Chr9:127815754 [GRCh38]
Chr9:130578033 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1686G>C (p.Gln562His) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003759778]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV003147051] Chr9:127818120 [GRCh38]
Chr9:130580399 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1928G>A (p.Ser643Asn) single nucleotide variant Moyamoya disease 2 [RCV003128518] Chr9:127815731 [GRCh38]
Chr9:130578010 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.205del (p.Leu69fs) deletion Cardiovascular phenotype [RCV003306807] Chr9:127843108 [GRCh38]
Chr9:130605387 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.720G>C (p.Leu240=) single nucleotide variant Cardiovascular phenotype [RCV003306810] Chr9:127825327 [GRCh38]
Chr9:130587606 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.411G>T (p.Glu137Asp) single nucleotide variant not provided [RCV003329660] Chr9:127826622 [GRCh38]
Chr9:130588901 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.506T>C (p.Leu169Pro) single nucleotide variant Cardiovascular phenotype [RCV003358447] Chr9:127826527 [GRCh38]
Chr9:130588806 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.516G>A (p.Leu172=) single nucleotide variant Cardiovascular phenotype [RCV003358446] Chr9:127826517 [GRCh38]
Chr9:130588796 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.89G>A (p.Cys30Tyr) single nucleotide variant Cardiovascular phenotype [RCV003360710]|Hereditary hemorrhagic telangiectasia [RCV003594654] Chr9:127843224 [GRCh38]
Chr9:130605503 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.1076T>G (p.Ile359Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005100294]|not provided [RCV003481933] Chr9:127824362 [GRCh38]
Chr9:130586641 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1273-18C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003873641] Chr9:127819678 [GRCh38]
Chr9:130581957 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.954_955delinsACGAAGACAA (p.Leu319fs) indel not provided [RCV003480479] Chr9:127824836..127824837 [GRCh38]
Chr9:130587115..130587116 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.492C>A (p.Asp164Glu) single nucleotide variant not specified [RCV003480008] Chr9:127826541 [GRCh38]
Chr9:130588820 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1402G>T (p.Glu468Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003594704]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV003484561] Chr9:127818742 [GRCh38]
Chr9:130581021 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.997_1001del (p.Arg333fs) deletion Hereditary hemorrhagic telangiectasia [RCV003594703]|not provided [RCV003480478] Chr9:127824437..127824441 [GRCh38]
Chr9:130586716..130586720 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1076T>C (p.Ile359Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003759887]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV003484562] Chr9:127824362 [GRCh38]
Chr9:130586641 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1078C>T (p.Gln360Ter) single nucleotide variant not provided [RCV003480477] Chr9:127824360 [GRCh38]
Chr9:130586639 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.219+2T>A single nucleotide variant ENG-related disorder [RCV003391423] Chr9:127843092 [GRCh38]
Chr9:130605371 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1429-127A>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV003467909] Chr9:127818504 [GRCh38]
Chr9:130580783 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1852+21_1852+22del microsatellite not provided [RCV003443791] Chr9:127815921..127815922 [GRCh38]
Chr9:130578200..130578201 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1664_1676del (p.Pro555fs) deletion ENG-related disorder [RCV003412503] Chr9:127818130..127818142 [GRCh38]
Chr9:130580409..130580421 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1522C>T (p.Gln508Ter) single nucleotide variant ENG-related disorder [RCV003394405] Chr9:127818284 [GRCh38]
Chr9:130580563 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.319C>T (p.Leu107=) single nucleotide variant not provided [RCV003430257] Chr9:127829728 [GRCh38]
Chr9:130592007 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1230C>T (p.Ser410=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003849039] Chr9:127819942 [GRCh38]
Chr9:130582221 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.523+18C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003824666] Chr9:127826492 [GRCh38]
Chr9:130588771 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.585G>C (p.Glu195Asp) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003827334] Chr9:127825799 [GRCh38]
Chr9:130588078 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.1748C>T (p.Thr583Ile) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003879538] Chr9:127816047 [GRCh38]
Chr9:130578326 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1709T>C (p.Met570Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003877324] Chr9:127817181 [GRCh38]
Chr9:130579460 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1583C>G (p.Pro528Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003877114] Chr9:127818223 [GRCh38]
Chr9:130580502 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.998G>A (p.Arg333Lys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003877132] Chr9:127824440 [GRCh38]
Chr9:130586719 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1720A>G (p.Ile574Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593700] Chr9:127817170 [GRCh38]
Chr9:130579449 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1660C>T (p.Arg554Cys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593721] Chr9:127818146 [GRCh38]
Chr9:130580425 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.718C>T (p.Leu240=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593745] Chr9:127825329 [GRCh38]
Chr9:130587608 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1738T>A (p.Ser580Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593778] Chr9:127817152 [GRCh38]
Chr9:130579431 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-62G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003595220] Chr9:127854417 [GRCh38]
Chr9:130616696 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1734C>T (p.Asp578=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003595214] Chr9:127817156 [GRCh38]
Chr9:130579435 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.79A>G (p.Thr27Ala) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003595300] Chr9:127843234 [GRCh38]
Chr9:130605513 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1135-20G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003595312] Chr9:127820057 [GRCh38]
Chr9:130582336 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1429-6A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003595169] Chr9:127818383 [GRCh38]
Chr9:130580662 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.674C>G (p.Pro225Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003595359] Chr9:127825710 [GRCh38]
Chr9:130587989 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.-61C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005062675] Chr9:127854416 [GRCh38]
Chr9:130616695 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.933G>A (p.Val311=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003595504] Chr9:127824858 [GRCh38]
Chr9:130587137 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.-2G>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003594398] Chr9:127854357 [GRCh38]
Chr9:130616636 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1273G>A (p.Ala425Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003594424] Chr9:127819660 [GRCh38]
Chr9:130581939 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1603_1608del (p.His535_Phe536del) deletion Hereditary hemorrhagic telangiectasia [RCV003594385] Chr9:127818198..127818203 [GRCh38]
Chr9:130580477..130580482 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.982T>A (p.Ser328Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003594568] Chr9:127824809 [GRCh38]
Chr9:130587088 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.716A>T (p.Glu239Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003761047] Chr9:127825331 [GRCh38]
Chr9:130587610 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.943G>T (p.Val315Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003761030] Chr9:127824848 [GRCh38]
Chr9:130587127 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1312-16T>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003761116] Chr9:127818848 [GRCh38]
Chr9:130581127 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.320T>G (p.Leu107Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593377] Chr9:127829727 [GRCh38]
Chr9:130592006 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1852C>G (p.Arg618Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003852038] Chr9:127815943 [GRCh38]
Chr9:130578222 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1648A>C (p.Thr550Pro) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593570] Chr9:127818158 [GRCh38]
Chr9:130580437 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1852+25G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593417] Chr9:127815918 [GRCh38]
Chr9:130578197 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.219+2T>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593582] Chr9:127843092 [GRCh38]
Chr9:130605371 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1685A>C (p.Gln562Pro) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003595134] Chr9:127818121 [GRCh38]
Chr9:130580400 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.965_966del (p.Ile322fs) deletion Cardiovascular phenotype [RCV004371729]|Hereditary hemorrhagic telangiectasia [RCV003761099] Chr9:127824825..127824826 [GRCh38]
Chr9:130587104..130587105 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.223C>A (p.Pro75Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003595209] Chr9:127829824 [GRCh38]
Chr9:130592103 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1309C>G (p.Arg437Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593374] Chr9:127819624 [GRCh38]
Chr9:130581903 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.816+2T>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593375] Chr9:127825229 [GRCh38]
Chr9:130587508 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.689+14C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003595372] Chr9:127825681 [GRCh38]
Chr9:130587960 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1272+2dup duplication Hereditary hemorrhagic telangiectasia [RCV003595376] Chr9:127819897..127819898 [GRCh38]
Chr9:130582176..130582177 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1338C>T (p.Asp446=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003856324] Chr9:127818806 [GRCh38]
Chr9:130581085 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.501C>T (p.Ser167=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593468] Chr9:127826532 [GRCh38]
Chr9:130588811 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1310G>A (p.Arg437Gln) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003594863]|not provided [RCV004701086] Chr9:127819623 [GRCh38]
Chr9:130581902 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.575_577dup (p.Arg192_Thr193insSer) duplication Hereditary hemorrhagic telangiectasia [RCV003593548] Chr9:127825806..127825807 [GRCh38]
Chr9:130588085..130588086 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.277C>G (p.Arg93Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003595547] Chr9:127829770 [GRCh38]
Chr9:130592049 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.233dup (p.Glu79fs) duplication Hereditary hemorrhagic telangiectasia [RCV003594367] Chr9:127829813..127829814 [GRCh38]
Chr9:130592092..130592093 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.478dup (p.Ala160fs) duplication Hereditary hemorrhagic telangiectasia [RCV003594956] Chr9:127826554..127826555 [GRCh38]
Chr9:130588833..130588834 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.-141G>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003594926] Chr9:127854496 [GRCh38]
Chr9:130616775 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.903_904dup (p.Glu302fs) duplication Hereditary hemorrhagic telangiectasia [RCV003994764] Chr9:127824886..127824887 [GRCh38]
Chr9:130587165..130587166 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.361-4_361-3delinsAG indel Hereditary hemorrhagic telangiectasia [RCV003994724] Chr9:127826675..127826676 [GRCh38]
Chr9:130588954..130588955 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.679_689+7del deletion Hereditary hemorrhagic telangiectasia [RCV003595077] Chr9:127825688..127825705 [GRCh38]
Chr9:130587967..130587984 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.773_776delinsGCAGGGTC (p.Tyr258fs) indel Hereditary hemorrhagic telangiectasia [RCV003594501] Chr9:127825271..127825274 [GRCh38]
Chr9:130587550..130587553 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1022T>C (p.Ile341Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003813973] Chr9:127824416 [GRCh38]
Chr9:130586695 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.689+11C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003816921] Chr9:127825684 [GRCh38]
Chr9:130587963 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1686+15G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003761157] Chr9:127818105 [GRCh38]
Chr9:130580384 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.689+15C>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003761173] Chr9:127825680 [GRCh38]
Chr9:130587959 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.387_388delinsAT (p.Pro130Ser) indel Hereditary hemorrhagic telangiectasia [RCV003593522] Chr9:127826645..127826646 [GRCh38]
Chr9:130588924..130588925 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.170C>G (p.Ala57Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593583] Chr9:127843143 [GRCh38]
Chr9:130605422 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.219+13T>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593490] Chr9:127843081 [GRCh38]
Chr9:130605360 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.536T>C (p.Leu179Pro) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003839703] Chr9:127825848 [GRCh38]
Chr9:130588127 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.10G>C (p.Gly4Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593747] Chr9:127854346 [GRCh38]
Chr9:130616625 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.576C>G (p.Arg192=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593775] Chr9:127825808 [GRCh38]
Chr9:130588087 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1180T>C (p.Cys394Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593809] Chr9:127819992 [GRCh38]
Chr9:130582271 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1687-15C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593674] Chr9:127817218 [GRCh38]
Chr9:130579497 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1852+20A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003594503] Chr9:127815923 [GRCh38]
Chr9:130578202 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.1748C>G (p.Thr583Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593746] Chr9:127816047 [GRCh38]
Chr9:130578326 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.950T>A (p.Leu317Gln) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003595181]|not provided [RCV004790578] Chr9:127824841 [GRCh38]
Chr9:130587120 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.361-11T>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593376] Chr9:127826683 [GRCh38]
Chr9:130588962 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1612A>G (p.Thr538Ala) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003595390] Chr9:127818194 [GRCh38]
Chr9:130580473 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.952C>A (p.Pro318Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593505] Chr9:127824839 [GRCh38]
Chr9:130587118 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1414C>G (p.Gln472Glu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003595106] Chr9:127818730 [GRCh38]
Chr9:130581009 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1272+20del deletion Hereditary hemorrhagic telangiectasia [RCV003593703] Chr9:127819880 [GRCh38]
Chr9:130582159 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.32C>T (p.Ala11Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003835778] Chr9:127854324 [GRCh38]
Chr9:130616603 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1311+13G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003838385] Chr9:127819609 [GRCh38]
Chr9:130581888 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1600C>T (p.Leu534Phe) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003761170] Chr9:127818206 [GRCh38]
Chr9:130580485 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.728C>T (p.Ala243Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003595365] Chr9:127825319 [GRCh38]
Chr9:130587598 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.41_51dup (p.Ser18fs) duplication Hereditary hemorrhagic telangiectasia [RCV003593378] Chr9:127854304..127854305 [GRCh38]
Chr9:130616583..130616584 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.3G>A (p.Met1Ile) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593379] Chr9:127854353 [GRCh38]
Chr9:130616632 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.37C>A (p.Leu13Met) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593460] Chr9:127854319 [GRCh38]
Chr9:130616598 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.397G>T (p.Val133Phe) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003593461] Chr9:127826636 [GRCh38]
Chr9:130588915 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1361T>C (p.Leu454Pro) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003594871] Chr9:127818783 [GRCh38]
Chr9:130581062 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.67+5G>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003595506] Chr9:127854284 [GRCh38]
Chr9:130616563 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.747C>G (p.Ala249=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003595574] Chr9:127825300 [GRCh38]
Chr9:130587579 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.690-16G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003594992] Chr9:127825373 [GRCh38]
Chr9:130587652 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.-123G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760594] Chr9:127854478 [GRCh38]
Chr9:130616757 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1092C>G (p.Ala364=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003758540] Chr9:127824346 [GRCh38]
Chr9:130586625 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1175_1176del (p.Pro392fs) deletion Hereditary hemorrhagic telangiectasia [RCV003760943] Chr9:127819996..127819997 [GRCh38]
Chr9:130582275..130582276 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1687-19CT[3] microsatellite Hereditary hemorrhagic telangiectasia [RCV003760187] Chr9:127817215..127817216 [GRCh38]
Chr9:130579494..130579495 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1135-4C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003848512] Chr9:127820041 [GRCh38]
Chr9:130582320 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1643G>A (p.Ser548Asn) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV003641377] Chr9:127818163 [GRCh38]
Chr9:130580442 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.331G>A (p.Ala111Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003758553] Chr9:127829716 [GRCh38]
Chr9:130591995 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.428A>C (p.Lys143Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003759610] Chr9:127826605 [GRCh38]
Chr9:130588884 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1509C>T (p.Thr503=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760372] Chr9:127818297 [GRCh38]
Chr9:130580576 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.817-3T>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760590] Chr9:127824977 [GRCh38]
Chr9:130587256 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.266G>C (p.Gly89Ala) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003759380] Chr9:127829781 [GRCh38]
Chr9:130592060 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.67+20G>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003759387] Chr9:127854269 [GRCh38]
Chr9:130616548 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.441T>A (p.Leu147=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760879] Chr9:127826592 [GRCh38]
Chr9:130588871 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1134+12C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760751] Chr9:127824292 [GRCh38]
Chr9:130586571 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.816+20C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760261] Chr9:127825211 [GRCh38]
Chr9:130587490 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.720G>A (p.Leu240=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760355] Chr9:127825327 [GRCh38]
Chr9:130587606 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.689+21_689+22del deletion Hereditary hemorrhagic telangiectasia [RCV003760306] Chr9:127825673..127825674 [GRCh38]
Chr9:130587952..130587953 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.825A>G (p.Gly275=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003759292] Chr9:127824966 [GRCh38]
Chr9:130587245 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1215G>A (p.Leu405=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003842909] Chr9:127819957 [GRCh38]
Chr9:130582236 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1695T>G (p.His565Gln) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760514] Chr9:127817195 [GRCh38]
Chr9:130579474 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.512G>T (p.Arg171Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003758604] Chr9:127826521 [GRCh38]
Chr9:130588800 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1271A>T (p.Glu424Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760528] Chr9:127819901 [GRCh38]
Chr9:130582180 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1256G>C (p.Ser419Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003759527] Chr9:127819916 [GRCh38]
Chr9:130582195 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1242G>C (p.Met414Ile) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003758513] Chr9:127819930 [GRCh38]
Chr9:130582209 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1135-10del deletion Hereditary hemorrhagic telangiectasia [RCV003758533] Chr9:127820047 [GRCh38]
Chr9:130582326 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1852+21C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760340] Chr9:127815922 [GRCh38]
Chr9:130578201 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.67A>C (p.Ser23Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003758579] Chr9:127854289 [GRCh38]
Chr9:130616568 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.561C>A (p.Ser187Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003758556] Chr9:127825823 [GRCh38]
Chr9:130588102 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.712G>T (p.Val238Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003847247] Chr9:127825335 [GRCh38]
Chr9:130587614 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.636G>A (p.Val212=) single nucleotide variant Cardiovascular phenotype [RCV004992728]|Hereditary hemorrhagic telangiectasia [RCV003759173] Chr9:127825748 [GRCh38]
Chr9:130588027 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.220-11G>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003871458] Chr9:127829838 [GRCh38]
Chr9:130592117 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1429-3C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003759216] Chr9:127818380 [GRCh38]
Chr9:130580659 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1711C>G (p.Arg571Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003869761] Chr9:127817179 [GRCh38]
Chr9:130579458 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1223C>T (p.Ala408Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003818776] Chr9:127819949 [GRCh38]
Chr9:130582228 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.991+1del deletion Hereditary hemorrhagic telangiectasia [RCV003759954] Chr9:127824799 [GRCh38]
Chr9:130587078 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.524-14G>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760182] Chr9:127825874 [GRCh38]
Chr9:130588153 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.65_67+19del deletion Hereditary hemorrhagic telangiectasia [RCV003758350] Chr9:127854270..127854291 [GRCh38]
Chr9:130616549..130616570 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.955_956insGAAGACAA (p.Leu319fs) insertion Hereditary hemorrhagic telangiectasia [RCV003759201]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV004796837] Chr9:127824835..127824836 [GRCh38]
Chr9:130587114..130587115 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.1773C>T (p.Ala591=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003823207]|not specified [RCV004587567] Chr9:127816022 [GRCh38]
Chr9:130578301 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.16C>T (p.Leu6Phe) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003759483] Chr9:127854340 [GRCh38]
Chr9:130616619 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.674C>A (p.Pro225Gln) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003759913] Chr9:127825710 [GRCh38]
Chr9:130587989 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.96T>C (p.Leu32=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760197] Chr9:127843217 [GRCh38]
Chr9:130605496 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.895C>G (p.Leu299Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003758298] Chr9:127824896 [GRCh38]
Chr9:130587175 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1350C>T (p.Phe450=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003758316] Chr9:127818794 [GRCh38]
Chr9:130581073 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.15G>A (p.Thr5=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760046] Chr9:127854341 [GRCh38]
Chr9:130616620 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.1852+23G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760061]|not provided [RCV004810027] Chr9:127815920 [GRCh38]
Chr9:130578199 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.219+20G>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003758496] Chr9:127843074 [GRCh38]
Chr9:130605353 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1114C>T (p.Leu372=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003758679] Chr9:127824324 [GRCh38]
Chr9:130586603 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.754_756del (p.Ile252del) deletion Hereditary hemorrhagic telangiectasia [RCV003758349] Chr9:127825291..127825293 [GRCh38]
Chr9:130587570..130587572 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.789C>T (p.Ile263=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760210] Chr9:127825258 [GRCh38]
Chr9:130587537 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.457A>G (p.Arg153Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760302] Chr9:127826576 [GRCh38]
Chr9:130588855 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1135-15del deletion Hereditary hemorrhagic telangiectasia [RCV003758660] Chr9:127820052 [GRCh38]
Chr9:130582331 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.690-5C>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760142] Chr9:127825362 [GRCh38]
Chr9:130587641 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.268_274del (p.Thr90fs) deletion Hereditary hemorrhagic telangiectasia [RCV003847856] Chr9:127829773..127829779 [GRCh38]
Chr9:130592052..130592058 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1161G>C (p.Leu387=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003841928] Chr9:127820011 [GRCh38]
Chr9:130582290 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1429-23_1429-1del deletion Hereditary hemorrhagic telangiectasia [RCV003758412] Chr9:127818378..127818400 [GRCh38]
Chr9:130580657..130580679 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1401C>T (p.Ile467=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760410] Chr9:127818743 [GRCh38]
Chr9:130581022 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1272+10G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760375] Chr9:127819890 [GRCh38]
Chr9:130582169 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.389C>T (p.Pro130Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760846] Chr9:127826644 [GRCh38]
Chr9:130588923 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1311+18G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003759471] Chr9:127819604 [GRCh38]
Chr9:130581883 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.41del (p.Leu14fs) deletion Hereditary hemorrhagic telangiectasia [RCV003760992] Chr9:127854315 [GRCh38]
Chr9:130616594 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.690-18G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003759372] Chr9:127825375 [GRCh38]
Chr9:130587654 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1051_1052del (p.Ser351fs) deletion Hereditary hemorrhagic telangiectasia [RCV003759256] Chr9:127824386..127824387 [GRCh38]
Chr9:130586665..130586666 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1278G>C (p.Val426=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003759568] Chr9:127819655 [GRCh38]
Chr9:130581934 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.221G>C (p.Gly74Ala) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV003641376] Chr9:127829826 [GRCh38]
Chr9:130592105 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1273-19C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003759929] Chr9:127819679 [GRCh38]
Chr9:130581958 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1428+11T>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003759493] Chr9:127818705 [GRCh38]
Chr9:130580984 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1429-13C>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005101438]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV003641379] Chr9:127818390 [GRCh38]
Chr9:130580669 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1050T>C (p.Cys350=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003760029] Chr9:127824388 [GRCh38]
Chr9:130586667 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1280T>G (p.Val427Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV003994637] Chr9:127819653 [GRCh38]
Chr9:130581932 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1852+37C>A single nucleotide variant ENG-related disorder [RCV003894522] Chr9:127815906 [GRCh38]
Chr9:130578185 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1087T>G (p.Cys363Gly) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005103167]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV003988969] Chr9:127824351 [GRCh38]
Chr9:130586630 [GRCh37]
Chr9:9q34.11		 pathogenic|likely pathogenic
NM_001114753.3(ENG):c.816+3G>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV003989274] Chr9:127825228 [GRCh38]
Chr9:130587507 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.774del (p.Pro257_Tyr258insTer) deletion Hereditary hemorrhagic telangiectasia [RCV003994736] Chr9:127825273 [GRCh38]
Chr9:130587552 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.891A>G (p.Gln297=) single nucleotide variant Cardiovascular phenotype [RCV004369766]|ENG-related disorder [RCV003904313] Chr9:127824900 [GRCh38]
Chr9:130587179 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1499_1512del (p.Glu500fs) deletion ENG-related disorder [RCV003947301] Chr9:127818294..127818307 [GRCh38]
Chr9:130580573..130580586 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1309C>A (p.Arg437=) single nucleotide variant Cardiovascular phenotype [RCV004523342] Chr9:127819624 [GRCh38]
Chr9:130581903 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1500G>A (p.Glu500=) single nucleotide variant Cardiovascular phenotype [RCV004523343]|Hereditary hemorrhagic telangiectasia [RCV005059508] Chr9:127818306 [GRCh38]
Chr9:130580585 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1539G>A (p.Lys513=) single nucleotide variant Cardiovascular phenotype [RCV004523344] Chr9:127818267 [GRCh38]
Chr9:130580546 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1647C>T (p.Cys549=) single nucleotide variant Cardiovascular phenotype [RCV004523345] Chr9:127818159 [GRCh38]
Chr9:130580438 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1689del (p.Val564fs) deletion Cardiovascular phenotype [RCV004523346] Chr9:127817201 [GRCh38]
Chr9:130579480 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1782C>G (p.Gly594=) single nucleotide variant Cardiovascular phenotype [RCV004523347] Chr9:127816013 [GRCh38]
Chr9:130578292 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.426C>G (p.Pro142=) single nucleotide variant Cardiovascular phenotype [RCV004523348] Chr9:127826607 [GRCh38]
Chr9:130588886 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.642C>G (p.Gly214=) single nucleotide variant ENG-related disorder [RCV003901712] Chr9:127825742 [GRCh38]
Chr9:130588021 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.683C>T (p.Ser228Leu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV004577216] Chr9:127825701 [GRCh38]
Chr9:130587980 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1287C>A (p.Ile429=) single nucleotide variant not provided [RCV004599094] Chr9:127819646 [GRCh38]
Chr9:130581925 [GRCh37]
Chr9:9q34.11		 likely benign
NC_000009.11:g.(?_130216807)_(133557056_?)dup duplication Dystonic disorder [RCV004581825] Chr9:130216807..133557056 [GRCh37]
Chr9:9q33.3-34.12		 uncertain significance
NC_000009.11:g.(?_130587966)_(130588153_?)del deletion Hereditary hemorrhagic telangiectasia [RCV004581846] Chr9:130587966..130588153 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130605363)_(130616761_?)del deletion Hereditary hemorrhagic telangiectasia [RCV004581847] Chr9:130605363..130616761 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130586573)_(130616761_?)del deletion Hereditary hemorrhagic telangiectasia [RCV004581848] Chr9:130586573..130616761 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130586573)_(130605542_?)del deletion Hereditary hemorrhagic telangiectasia [RCV004581850] Chr9:130586573..130605542 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130581890)_(130592750_?)del deletion Hereditary hemorrhagic telangiectasia [RCV004581851] Chr9:130581890..130592750 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130587100)_(130591583_?)del deletion Hereditary hemorrhagic telangiectasia [RCV004581854] Chr9:130587100..130591583 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130579560)_(130582216_?)del deletion Hereditary hemorrhagic telangiectasia [RCV004581855] Chr9:130579560..130582216 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_130374683)_(131329276_?)del deletion Developmental and epileptic encephalopathy, 31A [RCV004581887]|Early infantile epileptic encephalopathy with suppression bursts [RCV004581888] Chr9:130374683..131329276 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1298C>G (p.Ser433Ter) single nucleotide variant not provided [RCV004697375] Chr9:127819635 [GRCh38]
Chr9:130581914 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.987C>G (p.Ser329Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV004765083] Chr9:127824804 [GRCh38]
Chr9:130587083 [GRCh37]
Chr9:9q34.11		 likely pathogenic|uncertain significance
NM_001114753.3(ENG):c.485T>G (p.Leu162Arg) single nucleotide variant not provided [RCV004697377] Chr9:127826548 [GRCh38]
Chr9:130588827 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1531_1534dup (p.Ala512fs) duplication not provided [RCV004697368] Chr9:127818271..127818272 [GRCh38]
Chr9:130580550..130580551 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1583C>T (p.Pro528Leu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005102072]|not provided [RCV004598599] Chr9:127818223 [GRCh38]
Chr9:130580502 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.-142A>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV004794701] Chr9:127854497 [GRCh38]
Chr9:130616776 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.653dup (p.His219fs) duplication not provided [RCV004721859] Chr9:127825730..127825731 [GRCh38]
Chr9:130588009..130588010 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.67+2del deletion not provided [RCV004792216] Chr9:127854287 [GRCh38]
Chr9:130616566 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.732_739dup (p.Leu247fs) duplication not provided [RCV004792215] Chr9:127825307..127825308 [GRCh38]
Chr9:130587586..130587587 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.765_773delinsGG (p.Pro256fs) indel not provided [RCV004792214] Chr9:127825274..127825282 [GRCh38]
Chr9:130587553..130587561 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1687-1G>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV004720670] Chr9:127817204 [GRCh38]
Chr9:130579483 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.654_657dup (p.Ile220fs) duplication not provided [RCV004726047] Chr9:127825726..127825727 [GRCh38]
Chr9:130588005..130588006 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1134+1G>C single nucleotide variant ENG-related disorder [RCV004731993]|Hereditary hemorrhagic telangiectasia [RCV005103633] Chr9:127824303 [GRCh38]
Chr9:130586582 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.923_931del (p.Ala308_Ile310del) deletion ENG-related disorder [RCV004731356] Chr9:127824860..127824868 [GRCh38]
Chr9:130587139..130587147 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1523_1528dup (p.Gly509_Arg510insGlnGly) duplication not provided [RCV004775922] Chr9:127818277..127818278 [GRCh38]
Chr9:130580556..130580557 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1895C>T (p.Pro632Leu) single nucleotide variant not specified [RCV004700170] Chr9:127815764 [GRCh38]
Chr9:130578043 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1388C>T (p.Ala463Val) single nucleotide variant ENG-related disorder [RCV004754103] Chr9:127818756 [GRCh38]
Chr9:130581035 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1047_1048dup (p.Cys350fs) duplication Cardiovascular phenotype [RCV004996761] Chr9:127824389..127824390 [GRCh38]
Chr9:130586668..130586669 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1527C>T (p.Gly509=) single nucleotide variant Cardiovascular phenotype [RCV004996762]|Hereditary hemorrhagic telangiectasia [RCV005110220] Chr9:127818279 [GRCh38]
Chr9:130580558 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1941C>A (p.Thr647=) single nucleotide variant Cardiovascular phenotype [RCV004996763] Chr9:127815718 [GRCh38]
Chr9:130577997 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1728C>T (p.Ser576=) single nucleotide variant Cardiovascular phenotype [RCV004996764] Chr9:127817162 [GRCh38]
Chr9:130579441 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1146C>T (p.Cys382=) single nucleotide variant Cardiovascular phenotype [RCV004996765] Chr9:127820026 [GRCh38]
Chr9:130582305 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1914C>T (p.Ser638=) single nucleotide variant Cardiovascular phenotype [RCV004996766] Chr9:127815745 [GRCh38]
Chr9:130578024 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.342C>T (p.Ile114=) single nucleotide variant Cardiovascular phenotype [RCV004996767] Chr9:127829705 [GRCh38]
Chr9:130591984 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1107C>G (p.Thr369=) single nucleotide variant Cardiovascular phenotype [RCV004996768] Chr9:127824331 [GRCh38]
Chr9:130586610 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.393G>C (p.Pro131=) single nucleotide variant Cardiovascular phenotype [RCV004996769] Chr9:127826640 [GRCh38]
Chr9:130588919 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.759G>A (p.Leu253=) single nucleotide variant Cardiovascular phenotype [RCV004996771] Chr9:127825288 [GRCh38]
Chr9:130587567 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.918C>T (p.Leu306=) single nucleotide variant Cardiovascular phenotype [RCV004996770] Chr9:127824873 [GRCh38]
Chr9:130587152 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.510C>G (p.Leu170=) single nucleotide variant Cardiovascular phenotype [RCV004996772] Chr9:127826523 [GRCh38]
Chr9:130588802 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1194C>T (p.Asp398=) single nucleotide variant Cardiovascular phenotype [RCV004996775]|Hereditary hemorrhagic telangiectasia [RCV005110221] Chr9:127819978 [GRCh38]
Chr9:130582257 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1896G>A (p.Pro632=) single nucleotide variant Cardiovascular phenotype [RCV004996760] Chr9:127815763 [GRCh38]
Chr9:130578042 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.771C>T (p.Pro257=) single nucleotide variant Cardiovascular phenotype [RCV004996774] Chr9:127825276 [GRCh38]
Chr9:130587555 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1950C>G (p.Thr650=) single nucleotide variant Cardiovascular phenotype [RCV004996773] Chr9:127815709 [GRCh38]
Chr9:130577988 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1137T>C (p.His379=) single nucleotide variant Cardiovascular phenotype [RCV004996776] Chr9:127820035 [GRCh38]
Chr9:130582314 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1176C>T (p.Pro392=) single nucleotide variant Cardiovascular phenotype [RCV004996777] Chr9:127819996 [GRCh38]
Chr9:130582275 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1969A>C (p.Met657Leu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV005052258] Chr9:127815690 [GRCh38]
Chr9:130577969 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.524-12del deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV005043840] Chr9:127825872 [GRCh38]
Chr9:130588151 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.61C>T (p.Pro21Ser) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV005043842] Chr9:127854295 [GRCh38]
Chr9:130616574 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1621A>G (p.Ile541Val) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV005043837] Chr9:127818185 [GRCh38]
Chr9:130580464 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.583_601del (p.Glu195fs) deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV005002114] Chr9:127825783..127825801 [GRCh38]
Chr9:130588062..130588080 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1852+16C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV005043836] Chr9:127815927 [GRCh38]
Chr9:130578206 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1127T>C (p.Leu376Pro) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV005043839] Chr9:127824311 [GRCh38]
Chr9:130586590 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1433G>T (p.Arg478Ile) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005063332]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV005043838] Chr9:127818373 [GRCh38]
Chr9:130580652 [GRCh37]
Chr9:9q34.11		 likely benign|uncertain significance
NM_001114753.3(ENG):c.727_760del (p.Ala243fs) deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV005002115] Chr9:127825287..127825320 [GRCh38]
Chr9:130587566..130587599 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.144_145dup (p.Val49fs) duplication Hereditary hemorrhagic telangiectasia [RCV005195188] Chr9:127843167..127843168 [GRCh38]
Chr9:130605446..130605447 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.808C>A (p.Gln270Lys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005088220] Chr9:127825239 [GRCh38]
Chr9:130587518 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.971C>A (p.Ser324Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005195810] Chr9:127824820 [GRCh38]
Chr9:130587099 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.105G>A (p.Val35=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005170328] Chr9:127843208 [GRCh38]
Chr9:130605487 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.462C>A (p.Gly154=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005087074] Chr9:127826571 [GRCh38]
Chr9:130588850 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.-56A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005062535] Chr9:127854411 [GRCh38]
Chr9:130616690 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1742-12G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005067130] Chr9:127816065 [GRCh38]
Chr9:130578344 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.763G>C (p.Gly255Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005133904] Chr9:127825284 [GRCh38]
Chr9:130587563 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.1312-3dup duplication Hereditary hemorrhagic telangiectasia [RCV005079117] Chr9:127818834..127818835 [GRCh38]
Chr9:130581113..130581114 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.1134+17C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005135652] Chr9:127824287 [GRCh38]
Chr9:130586566 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1479_1485del (p.Cys493fs) deletion Hereditary hemorrhagic telangiectasia [RCV005126567] Chr9:127818321..127818327 [GRCh38]
Chr9:130580600..130580606 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1428+10A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005154585] Chr9:127818706 [GRCh38]
Chr9:130580985 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1395C>T (p.Asn465=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005153136] Chr9:127818749 [GRCh38]
Chr9:130581028 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.-200C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005181671] Chr9:127854555 [GRCh38]
Chr9:130616834 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.816+19C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005204034] Chr9:127825212 [GRCh38]
Chr9:130587491 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1134+6G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005137405] Chr9:127824298 [GRCh38]
Chr9:130586577 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1570C>T (p.Pro524Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005176821] Chr9:127818236 [GRCh38]
Chr9:130580515 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1761C>A (p.Leu587=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005183555] Chr9:127816034 [GRCh38]
Chr9:130578313 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.-174A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005148639] Chr9:127854529 [GRCh38]
Chr9:130616808 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-170C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005181492] Chr9:127854525 [GRCh38]
Chr9:130616804 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.235del (p.Glu79fs) deletion Hereditary hemorrhagic telangiectasia [RCV005121300] Chr9:127829812 [GRCh38]
Chr9:130592091 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1143G>A (p.Lys381=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005078524] Chr9:127820029 [GRCh38]
Chr9:130582308 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.577_580dup (p.Leu194fs) duplication Hereditary hemorrhagic telangiectasia [RCV005200779] Chr9:127825803..127825804 [GRCh38]
Chr9:130588082..130588083 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1473C>G (p.Asp491Glu) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005187846] Chr9:127818333 [GRCh38]
Chr9:130580612 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1273-19C>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005120065] Chr9:127819679 [GRCh38]
Chr9:130581958 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1024C>A (p.Gln342Lys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005147991] Chr9:127824414 [GRCh38]
Chr9:130586693 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.669C>T (p.Val223=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005153753] Chr9:127825715 [GRCh38]
Chr9:130587994 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1312-7C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005192862] Chr9:127818839 [GRCh38]
Chr9:130581118 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.915G>A (p.Met305Ile) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005076618] Chr9:127824876 [GRCh38]
Chr9:130587155 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1432A>C (p.Arg478=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005122868] Chr9:127818374 [GRCh38]
Chr9:130580653 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.475G>C (p.Ala159Pro) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005141046] Chr9:127826558 [GRCh38]
Chr9:130588837 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-46C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005148705] Chr9:127854401 [GRCh38]
Chr9:130616680 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.112G>T (p.Glu38Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005125526] Chr9:127843201 [GRCh38]
Chr9:130605480 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1547G>C (p.Cys516Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005190546] Chr9:127818259 [GRCh38]
Chr9:130580538 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.946G>A (p.Glu316Lys) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005118691] Chr9:127824845 [GRCh38]
Chr9:130587124 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1428G>A (p.Gln476=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005200777] Chr9:127818716 [GRCh38]
Chr9:130580995 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1103T>C (p.Met368Thr) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005200778] Chr9:127824335 [GRCh38]
Chr9:130586614 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1526G>C (p.Gly509Ala) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005143979] Chr9:127818280 [GRCh38]
Chr9:130580559 [GRCh37]
Chr9:9q34.11		 benign
NM_001114753.3(ENG):c.1471G>C (p.Asp491His) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005141963] Chr9:127818335 [GRCh38]
Chr9:130580614 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.409G>C (p.Glu137Gln) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005141967] Chr9:127826624 [GRCh38]
Chr9:130588903 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.115del (p.Arg39fs) deletion Hereditary hemorrhagic telangiectasia [RCV005200781] Chr9:127843198 [GRCh38]
Chr9:130605477 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.-83C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005136933] Chr9:127854438 [GRCh38]
Chr9:130616717 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.475G>T (p.Ala159Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005168968] Chr9:127826558 [GRCh38]
Chr9:130588837 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.361-8C>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005205394] Chr9:127826680 [GRCh38]
Chr9:130588959 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.892G>C (p.Gly298Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005134654] Chr9:127824899 [GRCh38]
Chr9:130587178 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1012C>T (p.Pro338Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005191762] Chr9:127824426 [GRCh38]
Chr9:130586705 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.686_689del (p.Ala229fs) deletion Hereditary hemorrhagic telangiectasia [RCV005142606] Chr9:127825695..127825698 [GRCh38]
Chr9:130587974..130587977 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.360C>G (p.Tyr120Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005131245] Chr9:127829687 [GRCh38]
Chr9:130591966 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1267A>C (p.Asn423His) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005117475] Chr9:127819905 [GRCh38]
Chr9:130582184 [GRCh37]
Chr9:9q34.11		 likely pathogenic
NM_001114753.3(ENG):c.201_206del (p.Phe68_Leu69del) deletion Hereditary hemorrhagic telangiectasia [RCV005201894] Chr9:127843107..127843112 [GRCh38]
Chr9:130605386..130605391 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1134+2dup duplication Hereditary hemorrhagic telangiectasia [RCV005135407] Chr9:127824301..127824302 [GRCh38]
Chr9:130586580..130586581 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.-35A>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005131867] Chr9:127854390 [GRCh38]
Chr9:130616669 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.520C>T (p.Gln174Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005188577] Chr9:127826513 [GRCh38]
Chr9:130588792 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1135-3C>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005199821] Chr9:127820040 [GRCh38]
Chr9:130582319 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.361-19C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005139710] Chr9:127826691 [GRCh38]
Chr9:130588970 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.992-9A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005136790] Chr9:127824455 [GRCh38]
Chr9:130586734 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1681G>C (p.Asp561His) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005139862] Chr9:127818125 [GRCh38]
Chr9:130580404 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.361-3C>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005207898] Chr9:127826675 [GRCh38]
Chr9:130588954 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1157del (p.Gly386fs) deletion Hereditary hemorrhagic telangiectasia [RCV005132949] Chr9:127820015 [GRCh38]
Chr9:130582294 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.22_23del (p.Leu8fs) microsatellite Hereditary hemorrhagic telangiectasia [RCV005161173] Chr9:127854333..127854334 [GRCh38]
Chr9:130616612..130616613 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1727_1734delinsAG (p.Ser576_Asp578delinsLys) indel Hereditary hemorrhagic telangiectasia [RCV005191344] Chr9:127817156..127817163 [GRCh38]
Chr9:130579435..130579442 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1427dup (p.Val477fs) duplication Hereditary hemorrhagic telangiectasia [RCV005118002] Chr9:127818716..127818717 [GRCh38]
Chr9:130580995..130580996 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.162G>A (p.Val54=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005133033] Chr9:127843151 [GRCh38]
Chr9:130605430 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1540G>A (p.Gly514Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005078365] Chr9:127818266 [GRCh38]
Chr9:130580545 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1096del (p.Asp366fs) deletion Hereditary hemorrhagic telangiectasia [RCV005142454] Chr9:127824342 [GRCh38]
Chr9:130586621 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1821_1836dup (p.Ile613fs) duplication Hereditary hemorrhagic telangiectasia [RCV005079582] Chr9:127815958..127815959 [GRCh38]
Chr9:130578237..130578238 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1240A>G (p.Met414Val) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005139342] Chr9:127819932 [GRCh38]
Chr9:130582211 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.730C>T (p.Pro244Ser) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005191640] Chr9:127825317 [GRCh38]
Chr9:130587596 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.496C>T (p.Gln166Ter) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005206191] Chr9:127826537 [GRCh38]
Chr9:130588816 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1312-13C>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005129272] Chr9:127818845 [GRCh38]
Chr9:130581124 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.361-20G>A single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005191726] Chr9:127826692 [GRCh38]
Chr9:130588971 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1428+13C>T single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005188191] Chr9:127818703 [GRCh38]
Chr9:130580982 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1665_1671dup (p.Gly558fs) duplication Hereditary hemorrhagic telangiectasia [RCV005128243] Chr9:127818134..127818135 [GRCh38]
Chr9:130580413..130580414 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1429-4G>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005122869] Chr9:127818381 [GRCh38]
Chr9:130580660 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1513del (p.Glu505fs) deletion Hereditary hemorrhagic telangiectasia [RCV005205368] Chr9:127818293 [GRCh38]
Chr9:130580572 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.579G>C (p.Thr193=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005153841] Chr9:127825805 [GRCh38]
Chr9:130588084 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.546C>T (p.Cys182=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005199733] Chr9:127825838 [GRCh38]
Chr9:130588117 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1344C>G (p.Leu448=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005153952] Chr9:127818800 [GRCh38]
Chr9:130581079 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1605C>A (p.His535Gln) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005148808] Chr9:127818201 [GRCh38]
Chr9:130580480 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.1228del (p.Ser410fs) deletion Hereditary hemorrhagic telangiectasia [RCV005126197] Chr9:127819944 [GRCh38]
Chr9:130582223 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1429-7dup duplication Hereditary hemorrhagic telangiectasia [RCV005122870] Chr9:127818383..127818384 [GRCh38]
Chr9:130580662..130580663 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.1230del (p.Ser411fs) deletion Hereditary hemorrhagic telangiectasia [RCV005126203] Chr9:127819942 [GRCh38]
Chr9:130582221 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.67+3A>G single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005200092] Chr9:127854286 [GRCh38]
Chr9:130616565 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.523+2T>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005128783] Chr9:127826508 [GRCh38]
Chr9:130588787 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1134+2T>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005201334] Chr9:127824302 [GRCh38]
Chr9:130586581 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.185T>G (p.Leu62Arg) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005183957] Chr9:127843128 [GRCh38]
Chr9:130605407 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001114753.3(ENG):c.174del (p.Asn59fs) deletion Hereditary hemorrhagic telangiectasia [RCV005204972] Chr9:127843139 [GRCh38]
Chr9:130605418 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001114753.3(ENG):c.1272+10G>C single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005182092] Chr9:127819890 [GRCh38]
Chr9:130582169 [GRCh37]
Chr9:9q34.11		 likely benign
NM_001114753.3(ENG):c.702G>C (p.Val234=) single nucleotide variant Hereditary hemorrhagic telangiectasia [RCV005198439] Chr9:127825345 [GRCh38]
Chr9:130587624 [GRCh37]
Chr9:9q34.11		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2294
Count of miRNA genes:789
Interacting mature miRNAs:945
Transcripts:ENST00000344849, ENST00000373203, ENST00000462196, ENST00000480266, ENST00000486329
Prediction methods:Microtar, Miranda, 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
597263113GWAS1359187_Hamino acid measurement QTL GWAS1359187 (human)0.000008amino acid measurement9127845079127845080Human
597089765GWAS1185839_Hmonocyte count QTL GWAS1185839 (human)6e-09monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)9127845080127845081Human
597265693GWAS1361767_Hendoglin measurement QTL GWAS1361767 (human)4e-29endoglin measurement9127824342127824343Human
597055507GWAS1151581_Hmetabolic syndrome QTL GWAS1151581 (human)3e-08metabolic syndrome9127849626127849627Human
597101122GWAS1197196_Hvesicoureteral reflux QTL GWAS1197196 (human)0.0000009vesicoureteral reflux9127850386127850387Human
597133346GWAS1229420_Hdiastolic blood pressure QTL GWAS1229420 (human)1e-10diastolic blood pressurediastolic blood pressure (CMO:0000005)9127852626127852627Human
597182446GWAS1278520_Hendoglin measurement QTL GWAS1278520 (human)2e-13endoglin measurement9127838998127838999Human
596961555GWAS1081074_Hmetabolic syndrome QTL GWAS1081074 (human)3e-08metabolic syndrome9127849626127849627Human
597195728GWAS1291802_Herythrocyte count QTL GWAS1291802 (human)3e-11erythrocyte countred blood cell count (CMO:0000025)9127822752127822753Human
597139641GWAS1235715_Hhemoglobin measurement QTL GWAS1235715 (human)5e-08hemoglobin measurementhemoglobin measurement (CMO:0000508)9127843106127843107Human
597140184GWAS1236258_Herythrocyte count QTL GWAS1236258 (human)5e-10erythrocyte countred blood cell count (CMO:0000025)9127822752127822753Human

Markers in Region
STS-AA035463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,577,299 - 130,577,540UniSTSGRCh37
Build 369129,617,120 - 129,617,361RGDNCBI36
Celera9101,228,141 - 101,228,382RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,194,119 - 100,194,360UniSTS
GeneMap99-GB4 RH Map9387.43UniSTS
RH79931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,577,918 - 130,578,156UniSTSGRCh37
Build 369129,617,739 - 129,617,977RGDNCBI36
Celera9101,228,760 - 101,228,998RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,194,738 - 100,194,976UniSTS
RH80829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,577,703 - 130,577,938UniSTSGRCh37
Build 369129,617,524 - 129,617,759RGDNCBI36
Celera9101,228,545 - 101,228,780RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,194,523 - 100,194,758UniSTS
GeneMap99-GB4 RH Map9384.82UniSTS
GDB:553289  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,605,320 - 130,605,568UniSTSGRCh37
Build 369129,645,141 - 129,645,389RGDNCBI36
Celera9101,256,162 - 101,256,410RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,222,270 - 100,222,518UniSTS
GDB:553293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,588,739 - 130,589,015UniSTSGRCh37
Build 369129,628,560 - 129,628,836RGDNCBI36
Celera9101,239,584 - 101,239,860RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,205,655 - 100,205,931UniSTS
GDB:553296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,587,937 - 130,588,174UniSTSGRCh37
Build 369129,627,758 - 129,627,995RGDNCBI36
Celera9101,238,782 - 101,239,019RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,204,853 - 100,205,090UniSTS
GDB:553300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,587,478 - 130,587,680UniSTSGRCh37
Build 369129,627,299 - 129,627,501RGDNCBI36
Celera9101,238,322 - 101,238,524RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,204,393 - 100,204,595UniSTS
GDB:553303  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,587,029 - 130,587,284UniSTSGRCh37
Build 369129,626,850 - 129,627,105RGDNCBI36
Celera9101,237,873 - 101,238,128RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,203,944 - 100,204,199UniSTS
GDB:553311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,580,933 - 130,581,143UniSTSGRCh37
Build 369129,620,754 - 129,620,964RGDNCBI36
Celera9101,231,775 - 101,231,985RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,197,753 - 100,197,963UniSTS
GDB:553315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,580,350 - 130,580,708UniSTSGRCh37
Build 369129,620,171 - 129,620,529RGDNCBI36
Celera9101,231,192 - 101,231,550RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,197,170 - 100,197,528UniSTS
GDB:553319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,579,389 - 130,579,542UniSTSGRCh37
Build 369129,619,210 - 129,619,363RGDNCBI36
Celera9101,230,231 - 101,230,384RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,196,209 - 100,196,362UniSTS
GDB:553324  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,578,146 - 130,578,400UniSTSGRCh37
Build 369129,617,967 - 129,618,221RGDNCBI36
Celera9101,228,988 - 101,229,242RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,194,966 - 100,195,220UniSTS
GDB:553329  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,577,929 - 130,578,126UniSTSGRCh37
Build 369129,617,750 - 129,617,947RGDNCBI36
Celera9101,228,771 - 101,228,968RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,194,749 - 100,194,946UniSTS
SHGC-110028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,598,614 - 130,598,733UniSTSGRCh37
Build 369129,638,435 - 129,638,554RGDNCBI36
Celera9101,249,459 - 101,249,578RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,215,567 - 100,215,686UniSTS
TNG Radiation Hybrid Map949337.0UniSTS
ENG_443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,577,125 - 130,577,938UniSTSGRCh37
Build 369129,616,946 - 129,617,759RGDNCBI36
Celera9101,227,967 - 101,228,780RGD
HuRef9100,193,945 - 100,194,758UniSTS
RH70059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,588,823 - 130,588,918UniSTSGRCh37
Build 369129,628,644 - 129,628,739RGDNCBI36
Celera9101,239,668 - 101,239,763RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,205,739 - 100,205,834UniSTS
GeneMap99-GB4 RH Map9389.89UniSTS
STS-J05481  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,577,491 - 130,577,703UniSTSGRCh37
Build 369129,617,312 - 129,617,524RGDNCBI36
Celera9101,228,333 - 101,228,545RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,194,311 - 100,194,523UniSTS
GeneMap99-GB4 RH Map9385.71UniSTS
RH68386  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,577,418 - 130,577,681UniSTSGRCh37
Build 369129,617,239 - 129,617,502RGDNCBI36
Celera9101,228,260 - 101,228,523RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,194,238 - 100,194,501UniSTS
GeneMap99-GB4 RH Map9386.82UniSTS
NCBI RH Map91165.7UniSTS
SHGC-30551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,579,933 - 130,580,032UniSTSGRCh37
Build 369129,619,754 - 129,619,853RGDNCBI36
Celera9101,230,775 - 101,230,874RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,196,753 - 100,196,852UniSTS
GeneMap99-GB4 RH Map9389.89UniSTS
Whitehead-RH Map9466.1UniSTS


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
visual system
1204 2423 2788 2253 4961 1726 2336 6 623 1939 465 2268 7281 6460 53 3722 851 1743 1602 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001114753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001278138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001406715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF035753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ011764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290389 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302455 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL157935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA943458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB079257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ866809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J05481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN542540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X72012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y11653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000344849   ⟹   ENSP00000341917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,015 - 127,854,773 (-)Ensembl
Ensembl Acc Id: ENST00000373203   ⟹   ENSP00000362299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,016 - 127,854,658 (-)Ensembl
Ensembl Acc Id: ENST00000462196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,016 - 127,854,719 (-)Ensembl
Ensembl Acc Id: ENST00000480266   ⟹   ENSP00000479015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,012 - 127,847,171 (-)Ensembl
Ensembl Acc Id: ENST00000486329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,819,238 - 127,824,405 (-)Ensembl
Ensembl Acc Id: ENST00000713956   ⟹   ENSP00000519249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,016 - 127,847,136 (-)Ensembl
Ensembl Acc Id: ENST00000713957   ⟹   ENSP00000519250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,016 - 127,847,139 (-)Ensembl
Ensembl Acc Id: ENST00000713995   ⟹   ENSP00000519285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,814,997 - 127,825,594 (-)Ensembl
Ensembl Acc Id: ENST00000713996   ⟹   ENSP00000519286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,016 - 127,854,658 (-)Ensembl
Ensembl Acc Id: ENST00000713997   ⟹   ENSP00000519287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,016 - 127,854,658 (-)Ensembl
Ensembl Acc Id: ENST00000714046   ⟹   ENSP00000519337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,019 - 127,854,400 (-)Ensembl
Ensembl Acc Id: ENST00000714047   ⟹   ENSP00000519338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,069 - 127,854,658 (-)Ensembl
Ensembl Acc Id: ENST00000714076   ⟹   ENSP00000519367
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,811,130 - 127,854,658 (-)Ensembl
Ensembl Acc Id: ENST00000714077   ⟹   ENSP00000519368
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,811,130 - 127,854,658 (-)Ensembl
Ensembl Acc Id: ENST00000714078   ⟹   ENSP00000519369
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,014 - 127,825,579 (-)Ensembl
Ensembl Acc Id: ENST00000714079   ⟹   ENSP00000519370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,016 - 127,825,449 (-)Ensembl
Ensembl Acc Id: ENST00000714080   ⟹   ENSP00000519371
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,016 - 127,825,586 (-)Ensembl
Ensembl Acc Id: ENST00000714081   ⟹   ENSP00000519372
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,016 - 127,854,687 (-)Ensembl
Ensembl Acc Id: ENST00000714082   ⟹   ENSP00000519373
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,016 - 127,854,701 (-)Ensembl
Ensembl Acc Id: ENST00000714083   ⟹   ENSP00000519374
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,016 - 127,854,711 (-)Ensembl
Ensembl Acc Id: ENST00000714084   ⟹   ENSP00000519375
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,019 - 127,854,658 (-)Ensembl
Ensembl Acc Id: ENST00000714102   ⟹   ENSP00000519394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,016 - 127,854,658 (-)Ensembl
Ensembl Acc Id: ENST00000714103   ⟹   ENSP00000519395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,017 - 127,825,450 (-)Ensembl
Ensembl Acc Id: ENST00000714126   ⟹   ENSP00000519416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,018 - 127,825,446 (-)Ensembl
Ensembl Acc Id: ENST00000714127   ⟹   ENSP00000519417
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9127,815,019 - 127,825,576 (-)Ensembl
RefSeq Acc Id: NM_000118   ⟹   NP_000109
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,815,016 - 127,854,658 (-)NCBI
GRCh379130,577,291 - 130,617,052 (-)NCBI
Build 369129,617,115 - 129,656,805 (-)NCBI Archive
HuRef9100,194,111 - 100,234,515 (-)NCBI
CHM1_19130,728,823 - 130,768,983 (-)NCBI
T2T-CHM13v2.09140,022,435 - 140,062,072 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001114753   ⟹   NP_001108225
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,815,016 - 127,854,658 (-)NCBI
HuRef9100,194,111 - 100,234,515 (-)NCBI
CHM1_19130,728,823 - 130,768,983 (-)NCBI
T2T-CHM13v2.09140,022,435 - 140,062,072 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001278138   ⟹   NP_001265067
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,815,016 - 127,847,135 (-)NCBI
GRCh379130,577,291 - 130,617,052 (-)NCBI
HuRef9100,194,111 - 100,234,515 (-)NCBI
CHM1_19130,728,823 - 130,761,377 (-)NCBI
T2T-CHM13v2.09140,022,435 - 140,054,549 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001406715   ⟹   NP_001393644
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,824,107 - 127,854,658 (-)NCBI
T2T-CHM13v2.09140,031,524 - 140,062,072 (-)NCBI
Protein Sequences
Protein RefSeqs NP_000109 (Get FASTA)   NCBI Sequence Viewer  
  NP_001108225 (Get FASTA)   NCBI Sequence Viewer  
  NP_001265067 (Get FASTA)   NCBI Sequence Viewer  
  NP_001393644 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35800 (Get FASTA)   NCBI Sequence Viewer  
  AAC32802 (Get FASTA)   NCBI Sequence Viewer  
  AAC63386 (Get FASTA)   NCBI Sequence Viewer  
  AAH14271 (Get FASTA)   NCBI Sequence Viewer  
  AAP35518 (Get FASTA)   NCBI Sequence Viewer  
  ABI75346 (Get FASTA)   NCBI Sequence Viewer  
  AEX08665 (Get FASTA)   NCBI Sequence Viewer  
  BAD96764 (Get FASTA)   NCBI Sequence Viewer  
  BAF83078 (Get FASTA)   NCBI Sequence Viewer  
  BAG61940 (Get FASTA)   NCBI Sequence Viewer  
  BAG63750 (Get FASTA)   NCBI Sequence Viewer  
  BAH13421 (Get FASTA)   NCBI Sequence Viewer  
  CAA50891 (Get FASTA)   NCBI Sequence Viewer  
  EAW87702 (Get FASTA)   NCBI Sequence Viewer  
  EAW87703 (Get FASTA)   NCBI Sequence Viewer  
  EAW87704 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000341917
  ENSP00000341917.3
  ENSP00000362299
  ENSP00000362299.4
  ENSP00000479015
  ENSP00000479015.1
  ENSP00000519249.1
  ENSP00000519250.1
  ENSP00000519251.1
  ENSP00000519285.1
  ENSP00000519286
  ENSP00000519286.1
  ENSP00000519287.1
  ENSP00000519337.1
  ENSP00000519338.1
  ENSP00000519367.1
  ENSP00000519368.1
  ENSP00000519369.1
  ENSP00000519370.1
  ENSP00000519371.1
  ENSP00000519372.1
  ENSP00000519373.1
  ENSP00000519374.1
  ENSP00000519375.1
  ENSP00000519394.1
  ENSP00000519395.1
  ENSP00000519416.1
  ENSP00000519417.1
GenBank Protein P17813 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001108225   ⟸   NM_001114753
- Peptide Label: isoform 1 precursor
- UniProtKB: Q14926 (UniProtKB/Swiss-Prot),   Q14248 (UniProtKB/Swiss-Prot),   Q5T9C0 (UniProtKB/Swiss-Prot),   P17813 (UniProtKB/Swiss-Prot),   Q96CG0 (UniProtKB/TrEMBL),   A8K2X4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_000109   ⟸   NM_000118
- Peptide Label: isoform 2 precursor
- UniProtKB: Q5T9B9 (UniProtKB/TrEMBL),   A0AAQ5BHC0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001265067   ⟸   NM_001278138
- Peptide Label: isoform 3
- UniProtKB: B7Z6Y5 (UniProtKB/TrEMBL),   F5GX88 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000362299   ⟸   ENST00000373203
Ensembl Acc Id: ENSP00000479015   ⟸   ENST00000480266
Ensembl Acc Id: ENSP00000341917   ⟸   ENST00000344849
RefSeq Acc Id: NP_001393644   ⟸   NM_001406715
- Peptide Label: isoform 4 precursor
Ensembl Acc Id: ENSP00000519375   ⟸   ENST00000714084
Ensembl Acc Id: ENSP00000519337   ⟸   ENST00000714046
Ensembl Acc Id: ENSP00000519338   ⟸   ENST00000714047
Ensembl Acc Id: ENSP00000519374   ⟸   ENST00000714083
Ensembl Acc Id: ENSP00000519371   ⟸   ENST00000714080
Ensembl Acc Id: ENSP00000519287   ⟸   ENST00000713997
Ensembl Acc Id: ENSP00000519370   ⟸   ENST00000714079
Ensembl Acc Id: ENSP00000519369   ⟸   ENST00000714078
Ensembl Acc Id: ENSP00000519285   ⟸   ENST00000713995
Ensembl Acc Id: ENSP00000519250   ⟸   ENST00000713957
Ensembl Acc Id: ENSP00000519416   ⟸   ENST00000714126
Ensembl Acc Id: ENSP00000519395   ⟸   ENST00000714103
Ensembl Acc Id: ENSP00000519373   ⟸   ENST00000714082
Ensembl Acc Id: ENSP00000519249   ⟸   ENST00000713956
Ensembl Acc Id: ENSP00000519286   ⟸   ENST00000713996
Ensembl Acc Id: ENSP00000519368   ⟸   ENST00000714077
Ensembl Acc Id: ENSP00000519372   ⟸   ENST00000714081
Ensembl Acc Id: ENSP00000519367   ⟸   ENST00000714076
Ensembl Acc Id: ENSP00000519417   ⟸   ENST00000714127
Ensembl Acc Id: ENSP00000519394   ⟸   ENST00000714102
Protein Domains
ZP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P17813-F1-model_v2 AlphaFold P17813 1-658 view protein structure

Promoters
RGD ID:7216211
Promoter ID:EPDNEW_H13852
Type:initiation region
Name:ENG_1
Description:endoglin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389127,854,658 - 127,854,718EPDNEW
RGD ID:6807469
Promoter ID:HG_KWN:65057
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000054316
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,626,401 - 129,627,477 (-)MPROMDB
RGD ID:6807468
Promoter ID:HG_KWN:65058
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000054315
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,627,871 - 129,628,371 (-)MPROMDB
RGD ID:6807467
Promoter ID:HG_KWN:65059
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000054314
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,631,701 - 129,632,201 (-)MPROMDB
RGD ID:6807466
Promoter ID:HG_KWN:65063
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:NM_000118,   NM_001114753
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,656,489 - 129,656,989 (-)MPROMDB
RGD ID:6850780
Promoter ID:EP73184
Type:initiation region
Name:HS_ENG
Description:Endoglin (Osler-Rendu-Weber syndrome 1).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,656,758 - 129,656,818EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3349 AgrOrtholog
COSMIC ENG COSMIC
Ensembl Genes ENSG00000106991 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000344849 ENTREZGENE
  ENST00000344849.5 UniProtKB/Swiss-Prot
  ENST00000373203 ENTREZGENE
  ENST00000373203.9 UniProtKB/Swiss-Prot
  ENST00000462196.2 UniProtKB/TrEMBL
  ENST00000480266 ENTREZGENE
  ENST00000480266.7 UniProtKB/TrEMBL
  ENST00000713956.1 UniProtKB/TrEMBL
  ENST00000713957.1 UniProtKB/TrEMBL
  ENST00000713995.1 UniProtKB/TrEMBL
  ENST00000713996 ENTREZGENE
  ENST00000713996.1 UniProtKB/TrEMBL
  ENST00000713997.1 UniProtKB/TrEMBL
  ENST00000714046.1 UniProtKB/TrEMBL
  ENST00000714047.1 UniProtKB/TrEMBL
  ENST00000714076.1 UniProtKB/TrEMBL
  ENST00000714077.1 UniProtKB/TrEMBL
  ENST00000714078.1 UniProtKB/TrEMBL
  ENST00000714079.1 UniProtKB/TrEMBL
  ENST00000714080.1 UniProtKB/TrEMBL
  ENST00000714081.1 UniProtKB/TrEMBL
  ENST00000714082.1 UniProtKB/TrEMBL
  ENST00000714083.1 UniProtKB/TrEMBL
  ENST00000714084.1 UniProtKB/TrEMBL
  ENST00000714102.1 UniProtKB/TrEMBL
  ENST00000714103.1 UniProtKB/TrEMBL
  ENST00000714126.1 UniProtKB/TrEMBL
  ENST00000714127.1 UniProtKB/TrEMBL
GTEx ENSG00000106991 GTEx
HGNC ID HGNC:3349 ENTREZGENE
Human Proteome Map ENG Human Proteome Map
InterPro ZP_dom UniProtKB/TrEMBL
KEGG Report hsa:2022 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2022 ENTREZGENE
OMIM 131195 OMIM
PANTHER ENDOGLIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENDOGLIN/TGF-BETA RECEPTOR TYPE III UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Zona_pellucida UniProtKB/TrEMBL
PharmGKB PA27785 PharmGKB
PROSITE PROKAR_LIPOPROTEIN UniProtKB/TrEMBL
UniProt A0AAQ5BH38_HUMAN UniProtKB/TrEMBL
  A0AAQ5BHA3_HUMAN UniProtKB/TrEMBL
  A0AAQ5BHA9_HUMAN UniProtKB/TrEMBL
  A0AAQ5BHC0 ENTREZGENE, UniProtKB/TrEMBL
  A0AAQ5BHC4_HUMAN UniProtKB/TrEMBL
  A0AAQ5BHE8_HUMAN UniProtKB/TrEMBL
  A0AAQ5BHF3_HUMAN UniProtKB/TrEMBL
  A0AAQ5BHF5_HUMAN UniProtKB/TrEMBL
  A0AAQ5BHF7_HUMAN UniProtKB/TrEMBL
  A0AAQ5BHG1_HUMAN UniProtKB/TrEMBL
  A0AAQ5BHG4_HUMAN UniProtKB/TrEMBL
  A0AAQ5BHG5_HUMAN UniProtKB/TrEMBL
  A0AAQ5BHG8_HUMAN UniProtKB/TrEMBL
  A0AAQ5BHH6_HUMAN UniProtKB/TrEMBL
  A0AAQ5BHI3_HUMAN UniProtKB/TrEMBL
  A0AAQ5BHI8_HUMAN UniProtKB/TrEMBL
  A0AAQ5BHM6_HUMAN UniProtKB/TrEMBL
  A8K2X4 ENTREZGENE, UniProtKB/TrEMBL
  B7Z6Y5 ENTREZGENE, UniProtKB/TrEMBL
  EGLN_HUMAN UniProtKB/Swiss-Prot
  F5GX88 ENTREZGENE, UniProtKB/TrEMBL
  P17813 ENTREZGENE
  Q14248 ENTREZGENE
  Q14926 ENTREZGENE
  Q5T9B9 ENTREZGENE, UniProtKB/TrEMBL
  Q5T9C0 ENTREZGENE
  Q96CG0 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q14248 UniProtKB/Swiss-Prot
  Q14926 UniProtKB/Swiss-Prot
  Q5T9C0 UniProtKB/Swiss-Prot