TGFBR1 (transforming growth factor beta receptor 1) - Rat Genome Database

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Gene: TGFBR1 (transforming growth factor beta receptor 1) Homo sapiens
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Symbol: TGFBR1
Name: transforming growth factor beta receptor 1
RGD ID: 733386
HGNC Page HGNC:11772
Description: Enables several functions, including ATP binding activity; I-SMAD binding activity; and transforming growth factor beta receptor activity, type I. Contributes to transforming growth factor beta binding activity. Involved in several processes, including myofibroblast differentiation; positive regulation of macromolecule biosynthetic process; and regulation of signal transduction. Located in several cellular components, including bicellular tight junction; membrane raft; and transforming growth factor beta ligand-receptor complex. Part of receptor complex. Implicated in Loeys-Dietz syndrome 1; Lynch syndrome; carcinoma (multiple); colorectal cancer; and urinary bladder cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AAT5; activin A receptor type II-like kinase, 53kD; activin A receptor type II-like kinase, 53kDa; activin A receptor type II-like protein kinase of 53kD; activin receptor-like kinase 5; ACVRLK4; ALK-5; ALK5; ESS1; LDS1; LDS1A; LDS2A; MSSE; multiple self-healing squamous epithelioma; mutant transforming growth factor beta receptor I; serine/threonine-protein kinase receptor R4; SKR4; tbetaR-I; TBR-i; TBRI; TGF-beta receptor type I; TGF-beta receptor type-1; TGF-beta type I receptor; TGFR-1; transforming growth factor beta receptor I; transforming growth factor, beta receptor 1; transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD); transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kDa); transforming growth factor-beta receptor type I
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: TGFBR1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38999,103,647 - 99,154,192 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl999,104,038 - 99,154,192 (+)EnsemblGRCh38hg38GRCh38
GRCh379101,867,395 - 101,916,474 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369100,907,233 - 100,956,295 (+)NCBINCBI36Build 36hg18NCBI36
Build 34998,946,966 - 98,991,862NCBI
Celera972,381,280 - 72,430,335 (+)NCBICelera
Cytogenetic Map9q22.33NCBI
HuRef971,464,684 - 71,515,132 (+)NCBIHuRef
CHM1_19102,013,851 - 102,062,916 (+)NCBICHM1_1
T2T-CHM13v2.09111,275,348 - 111,325,904 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute kidney failure  (EXP)
Animal Disease Models  (EXP)
aortic aneurysm  (TAS)
aortic disease  (IAGP)
Carotid Artery Injuries  (ISO)
Charlevoix-Saguenay spastic ataxia  (IAGP)
Chemical and Drug Induced Liver Injury  (EXP)
colorectal cancer  (IAGP)
Colorectal Neoplasms  (EXP)
congenital disorder of glycosylation Ii  (IAGP)
congenital disorder of glycosylation type II  (IAGP)
congenital myasthenic syndrome 14  (IAGP)
connective tissue disease  (IAGP)
craniosynostosis  (IAGP)
Craniosynostosis Syndrome, Autosomal Recessive  (IAGP)
diffuse scleroderma  (EXP)
Disproportionate Tall Stature  (IAGP)
Dissecting Aneurysm  (EXP)
Ehlers-Danlos syndrome  (IAGP)
Ehlers-Danlos syndrome classic type 1  (IAGP)
Experimental Liver Cirrhosis  (IMP,ISO)
Experimental Mammary Neoplasms  (IMP)
Familial Thoracic Aortic Aneurysm 6  (IAGP)
Ferguson-Smith tumor  (EXP,IAGP)
genetic disease  (IAGP)
Hyperalgesia  (ISO)
intellectual disability  (IAGP)
kidney disease  (ISO)
leiomyoma  (ISO)
liver cirrhosis  (EXP)
Loeys-Dietz syndrome  (EXP,IAGP,ISS)
Loeys-Dietz syndrome 1  (IAGP)
Lynch syndrome  (IAGP)
Marfan syndrome  (IAGP)
Marfanoid Hypermobility Syndrome  (IAGP)
myocardial infarction  (ISO)
myoepithelioma  (IAGP)
Neoplasm Metastasis  (IMP)
nephronophthisis  (IAGP)
osteoarthritis  (ISS)
osteochondrodysplasia  (ISO)
pancreatic ductal adenocarcinoma  (IMP)
Pulmonary Arterial Hypertension  (IEP)
pulmonary hypertension  (ISO)
Skin Neoplasms  (EXP)
Spontaneous Abortions  (EXP)
thoracic aortic aneurysm  (IAGP,TAS)
uremia  (EXP)
urinary bladder cancer  (IMP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(S)-nicotine  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-amino-2-deoxy-D-glucopyranose  (EXP)
3,3'-diindolylmethane  (EXP)
3-methyl-3H-imidazo[4,5-f]quinolin-2-amine  (ISO)
4-hydroxynon-2-enal  (ISO)
4-nitrophenol  (ISO)
4-vinylcyclohexene dioxide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
acteoside  (EXP)
aflatoxin B1  (EXP)
aldehydo-D-glucosamine  (EXP)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (ISO)
all-trans-retinol  (EXP)
allyl alcohol  (ISO)
alpha-pinene  (EXP)
AM-251  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
anthocyanin  (ISO)
aristolochic acid A  (EXP,ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
bellidifolin  (ISO)
benazepril  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (EXP)
bisphenol A  (EXP,ISO)
bleomycin A2  (EXP,ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP)
caffeine  (ISO)
calciol  (ISO)
cannabidiol  (EXP)
carbon nanotube  (EXP,ISO)
chlorpyrifos  (ISO)
Cinobufagin  (EXP)
cisatracurium  (EXP)
cisplatin  (EXP,ISO)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
corticosterone  (ISO)
coumestrol  (EXP)
crocin-1  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP,ISO)
D-glucose  (EXP)
dexamethasone  (ISO)
diazepam  (EXP)
dichlorine  (ISO)
dimethylarsinic acid  (ISO)
enalapril  (ISO)
Enterolactone  (EXP)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
flutamide  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
furosemide  (ISO)
galangin  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glucose  (EXP)
glycyrrhizinic acid  (EXP)
glyphosate  (EXP)
hexachlorobenzene  (ISO)
hydrogen cyanide  (ISO)
inulin  (ISO)
iron atom  (EXP)
iron(0)  (EXP)
Isoangustone A  (EXP)
ketamine  (EXP)
ketoconazole  (ISO)
lead(0)  (EXP)
lenalidomide  (EXP)
leupeptin  (ISO)
lignan  (ISO)
lipopolysaccharide  (ISO)
lithocholic acid  (ISO)
LY-2157299  (EXP)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methamphetamine  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
Methylazoxymethanol acetate  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
mifepristone  (ISO)
N-acetyl-L-cysteine  (EXP,ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
nicotine  (ISO)
nitrofen  (ISO)
obeticholic acid  (EXP)
ochratoxin A  (EXP,ISO)
oxalic acid  (EXP)
oxybenzone  (EXP)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
patulin  (ISO)
Pentoxifylline  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phenylephrine  (ISO)
Phyllanthin  (ISO)
piperine  (EXP)
potassium chromate  (EXP)
prostaglandin E2  (ISO)
quartz  (ISO)
quercetin  (EXP)
resveratrol  (EXP)
S-butyl-DL-homocysteine (S,R)-sulfoximine  (ISO)
salvianolic acid B  (ISO)
SB 431542  (EXP,ISO)
silicon dioxide  (ISO)
Sinomenine  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
streptozocin  (ISO)
succimer  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
T-2 toxin  (ISO)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
tetramethylpyrazine  (ISO)
thalidomide  (EXP)
thioacetamide  (ISO)
tolfenamic acid  (EXP)
tranilast  (ISO)
triadimefon  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activin receptor signaling pathway  (IBA,IEA,ISS)
angiogenesis  (IEA,ISO)
angiogenesis involved in coronary vascular morphogenesis  (IEA,ISS)
animal organ regeneration  (ISO)
anterior/posterior pattern specification  (IEA,ISO,ISS)
apoptotic process  (IEA,ISO)
artery morphogenesis  (IEA,ISO,ISS)
blastocyst development  (IEA,ISO)
cardiac epithelial to mesenchymal transition  (ISS)
cell differentiation  (IEA)
cell motility  (IMP)
cell surface receptor protein serine/threonine kinase signaling pathway  (IEA)
cellular response to growth factor stimulus  (IBA,IEA)
cellular response to transforming growth factor beta stimulus  (IDA,IEA)
collagen fibril organization  (IEA,ISO,ISS)
coronary artery morphogenesis  (IEA,ISS)
digestive tract development  (ISO)
embryo implantation  (ISO)
embryonic cranial skeleton morphogenesis  (IEA,ISO,ISS)
endothelial cell activation  (ISS)
endothelial cell migration  (IEA,ISO)
endothelial cell proliferation  (IEA,ISO)
epicardium morphogenesis  (IEA,ISS)
epithelial to mesenchymal transition  (IDA)
extracellular structure organization  (TAS)
filopodium assembly  (IEA,ISO)
germ cell migration  (IEA,ISO,ISS)
heart development  (IBA,IEA,ISO,ISS)
in utero embryonic development  (IEA,ISO,ISS)
intracellular signal transduction  (ISS)
kidney development  (IEA,ISO,ISS)
lens development in camera-type eye  (IEA,ISO)
lung development  (ISO)
male gonad development  (IEA,ISO)
mesenchymal cell differentiation  (ISS,TAS)
myofibroblast differentiation  (IMP)
negative regulation of apoptotic process  (IEA,ISO)
negative regulation of cell migration  (IMP)
negative regulation of chondrocyte differentiation  (IEA,ISS)
negative regulation of endothelial cell differentiation  (ISO)
negative regulation of endothelial cell proliferation  (IEA,ISO)
negative regulation of extrinsic apoptotic signaling pathway  (IMP)
negative regulation of miRNA transcription  (ISO)
nervous system development  (IBA,IEA)
neuron fate commitment  (IEA,ISO,ISS)
parathyroid gland development  (IEA,ISO,ISS)
pharyngeal system development  (IEA,ISO,ISS)
positive regulation of apoptotic process  (IEA)
positive regulation of apoptotic signaling pathway  (IDA)
positive regulation of cell growth  (IDA)
positive regulation of cell migration  (IDA)
positive regulation of cell population proliferation  (IMP)
positive regulation of DNA-templated transcription  (IDA,ISS)
positive regulation of endothelial cell proliferation  (ISS)
positive regulation of epithelial to mesenchymal transition  (IEA,ISS)
positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formation  (IEA,ISS)
positive regulation of extracellular matrix assembly  (IMP)
positive regulation of filopodium assembly  (IEA,ISO)
positive regulation of gene expression  (IMP,ISS)
positive regulation of mesenchymal stem cell proliferation  (IGI)
positive regulation of metabolic process  (IEA)
positive regulation of miRNA transcription  (ISO)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IDA)
positive regulation of SMAD protein signal transduction  (IDA,IGI,IMP)
positive regulation of stress fiber assembly  (IEA,ISS)
positive regulation of tight junction disassembly  (IEA,ISS)
positive regulation of vasculature development  (IMP)
post-embryonic development  (IEA,ISO)
proepicardium development  (ISS)
protein autophosphorylation  (ISO)
protein phosphorylation  (ISO)
regulation of cardiac muscle cell proliferation  (IEA,ISS)
regulation of cell cycle  (TAS)
regulation of DNA-templated transcription  (IDA,IMP)
regulation of epithelial to mesenchymal transition  (ISS)
regulation of gene expression  (IEA,ISO,ISS)
regulation of metabolic process  (IEA)
regulation of multicellular organismal process  (IEA)
regulation of protein ubiquitination  (IDA)
response to cholesterol  (IDA,IEA)
response to electrical stimulus  (ISO)
response to estrogen  (ISO)
response to hypoxia  (ISO)
response to organic cyclic compound  (ISO)
response to prostaglandin E  (ISO)
response to toxic substance  (ISO)
roof of mouth development  (IEA,ISO,ISS)
signal transduction  (IDA)
skeletal system development  (IEA,ISO,ISS)
skeletal system morphogenesis  (IEA,ISO,ISS)
thymus development  (IEA,ISO,ISS)
transforming growth factor beta receptor signaling pathway  (IBA,IC,IDA,IEA,IGI,IMP,ISO,ISS)
transforming growth factor beta receptor superfamily signaling pathway  (IEA)
ventricular compact myocardium morphogenesis  (IEA,ISS)
ventricular septum morphogenesis  (IEA,ISS)
ventricular trabecula myocardium morphogenesis  (IEA,ISS)
wound healing  (TAS)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal aortic aneurysm  (IAGP)
Abnormal bleeding  (IAGP)
Abnormal left ventricular function  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormality iris morphology  (IAGP)
Abnormality of connective tissue  (IAGP)
Adult onset  (IAGP)
Aortic aneurysm  (IAGP)
Aortic dissection  (IAGP)
Aortic regurgitation  (IAGP)
Aortic root aneurysm  (IAGP)
Arachnodactyly  (IAGP)
Arterial dissection  (IAGP)
Arterial tortuosity  (IAGP)
Ascending aortic dissection  (IAGP)
Atrial septal defect  (IAGP)
Atypical scarring of skin  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Bicuspid pulmonary valve  (IAGP)
Bifid uvula  (IAGP)
Blue sclerae  (IAGP)
Bruising susceptibility  (IAGP)
Camptodactyly  (IAGP)
Camptodactyly of finger  (IAGP)
Cardiac arrest  (IAGP)
Cardiomegaly  (IAGP)
Carotid artery dilatation  (IAGP)
Cervical spine instability  (IAGP)
Chest pain  (IAGP)
Chiari malformation  (IAGP)
Cleft palate  (IAGP)
Coronary artery atherosclerosis  (IAGP)
Craniosynostosis  (IAGP)
Cutis marmorata  (IAGP)
Dermal translucency  (IAGP)
Descending aortic dissection  (IAGP)
Descending thoracic aorta aneurysm  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Dilatation of the ductus arteriosus  (IAGP)
Disproportionate tall stature  (IAGP)
Dural ectasia  (IAGP)
Ectopia lentis  (IAGP)
Eosinophilic infiltration of the esophagus  (IAGP)
Exertional dyspnea  (IAGP)
Exotropia  (IAGP)
Global developmental delay  (IAGP)
Hemoptysis  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hydrocephalus  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypovolemia  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Ischemic stroke  (IAGP)
Joint dislocation  (IAGP)
Joint hypermobility  (IAGP)
Juvenile onset  (IAGP)
Malar flattening  (IAGP)
Micrognathia  (IAGP)
Mitral valve prolapse  (IAGP)
Mucoid extracellular matrix accumulation  (IAGP)
Nephronophthisis  (IAGP)
Orofacial cleft  (IAGP)
Paroxysmal dyspnea  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Peripheral arterial stenosis  (IAGP)
Pes planus  (IAGP)
Pneumothorax  (IAGP)
Postaxial hand polydactyly  (IAGP)
Proptosis  (IAGP)
Pulmonary artery aneurysm  (IAGP)
Retrognathia  (IAGP)
Scoliosis  (IAGP)
Soft skin  (IAGP)
Striae distensae  (IAGP)
Stroke  (IAGP)
Subarachnoid hemorrhage  (IAGP)
Talipes equinovarus  (IAGP)
Tall stature  (IAGP)
Thin skin  (IAGP)
Transient ischemic attack  (IAGP)
Typified by incomplete penetrance  (IAGP)
Uterine rupture  (IAGP)
Vascular dilatation  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Molecular mechanisms of TGF beta receptor-triggered signaling cascades rapidly induced by the calcineurin inhibitors cyclosporin A and FK506. Akool el-S, etal., J Immunol. 2008 Aug 15;181(4):2831-45.
2. Impaired Smad7-Smurf-mediated negative regulation of TGF-beta signaling in scleroderma fibroblasts. Asano Y, etal., J Clin Invest. 2004 Jan;113(2):253-64.
3. A transforming growth factor beta type I receptor that signals to activate gene expression. Bassing CH, etal., Science 1994 Jan 7;263(5143):87-9.
4. Down-modulation of lung immune responses by interleukin-10 and transforming growth factor beta (TGF-beta) and analysis of TGF-beta receptors I and II in active tuberculosis. Bonecini-Almeida MG, etal., Infect Immun. 2004 May;72(5):2628-34.
5. Int7G24A variant of transforming growth factor-beta receptor type I is associated with invasive breast cancer. Chen T, etal., Clin Cancer Res. 2006 Jan 15;12(2):392-7.
6. An intronic variant of the TGFBR1 gene is associated with carcinomas of the kidney and bladder. Chen T, etal., Int J Cancer. 2004 Nov 10;112(3):420-5.
7. Matrix contraction by dermal fibroblasts requires transforming growth factor-beta/activin-linked kinase 5, heparan sulfate-containing proteoglycans, and MEK/ERK: insights into pathological scarring in chronic fibrotic disease. Chen Y, etal., Am J Pathol. 2005 Dec;167(6):1699-711.
8. Inhibition of TGF-beta signaling by an ALK5 inhibitor protects rats from dimethylnitrosamine-induced liver fibrosis. de Gouville AC, etal., Br J Pharmacol. 2005 May;145(2):166-77.
9. Inhibition of ALK5 signaling induces physeal dysplasia in rats. Frazier K, etal., Toxicol Pathol. 2007;35(2):284-95.
10. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
11. Role of transforming growth factor-beta superfamily signaling pathways in human disease. Gordon KJ and Blobe GC, Biochim Biophys Acta. 2008 Apr;1782(4):197-228. Epub 2008 Feb 11.
12. Elevation of expression of Smads 2, 3, and 4, decorin and TGF-beta in the chronic phase of myocardial infarct scar healing. Hao J, etal., J Mol Cell Cardiol. 1999 Mar;31(3):667-78.
13. Dynamic expression patterns of transforming growth factor-beta(2) and transforming growth factor-beta receptors in experimental glomerulonephritis. Hartner A, etal., J Mol Med. 2003 Jan;81(1):32-42. Epub 2002 Dec 14.
14. Transforming growth factor beta type I receptor acts as a potent tumor suppressor in rat bladder carcinoma. Hattori K, etal., Carcinogenesis. 1997 Oct;18(10):1867-70.
15. TGFBR1*6A polymorphism in sporadic and familial colorectal Carcinoma: a case-control study and systematic literature review. Ibrahim T, etal., J Gastrointest Cancer. 2014 Dec;45(4):441-7. doi: 10.1007/s12029-014-9625-8.
16. Transforming growth factor-beta 1, 2, 3 and receptor type I and II in diabetic foot ulcers. Jude EB, etal., Diabet Med. 2002 Jun;19(6):440-7.
17. Differential expression of transforming growth factor-beta type I and II receptors by pulmonary cells in bleomycin-induced lung injury: correlation with repair and fibrosis. Khalil N, etal., Exp Lung Res. 2002 Apr-May;28(3):233-50.
18. Tumor-specific efficacy of transforming growth factor-beta RI inhibition in Eker rats. Laping NJ, etal., Clin Cancer Res. 2007 May 15;13(10):3087-99.
19. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Loeys BL, etal., Nat Genet. 2005 Mar;37(3):275-81. Epub 2005 Jan 30.
20. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
21. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
22. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
23. Endothelial-to-mesenchymal transition in pulmonary hypertension. Ranchoux B, etal., Circulation. 2015 Mar 17;131(11):1006-18. doi: 10.1161/CIRCULATIONAHA.114.008750. Epub 2015 Jan 15.
24. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
25. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
26. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
27. Dissecting the role of TGF-beta type I receptor/ALK5 in pancreatic ductal adenocarcinoma: Smad activation is crucial for both the tumor suppressive and prometastatic function. Schniewind B, etal., Oncogene. 2007 Jul 19;26(33):4850-62. doi: 10.1038/sj.onc.1210272. Epub 2007 Feb 12.
28. Mechanisms of TGF-beta signaling from cell membrane to the nucleus. Shi Y and Massague J, Cell. 2003 Jun 13;113(6):685-700.
29. Transforming growth factor beta signaling impairs Neu-induced mammary tumorigenesis while promoting pulmonary metastasis. Siegel PM, etal., Proc Natl Acad Sci U S A 2003 Jul 8;100(14):8430-5. Epub 2003 Jun 13.
30. [Effects of salvianolic acid B on expressions of TGF-beta1 and its receptors in liver of rats with dimethylnitrosamine-induced hepatic fibrosis] Wang XN, etal., Zhong Xi Yi Jie He Xue Bao. 2005 Jul;3(4):286-9.
31. Inhibitory effects of tranilast on expression of transforming growth factor-beta isoforms and receptors in injured arteries. Ward MR, etal., Atherosclerosis. 1998 Apr;137(2):267-75. doi: 10.1016/s0021-9150(97)00275-x.
32. Cell-type-specific activation of PAK2 by transforming growth factor beta independent of Smad2 and Smad3. Wilkes MC, etal., Mol Cell Biol. 2003 Dec;23(23):8878-89.
33. Expression of TGF beta1 genes and their receptor types I, II, and III in low- and high-grade malignancy non-Hodgkin's lymphomas. Woszczyk D, etal., Med Sci Monit. 2004 Jan;10(1):CR33-7.
34. TGF-beta signaling alterations and susceptibility to colorectal cancer. Xu Y and Pasche B, Hum Mol Genet. 2007 Apr 15;16 Spec No 1:R14-20.
35. Role of the TGF-beta/Alk5 signaling pathway in monocrotaline-induced pulmonary hypertension. Zaiman AL, etal., Am J Respir Crit Care Med. 2008 Apr 15;177(8):896-905. Epub 2008 Jan 17.
36. Acute Effects of Transforming Growth Factor-β1 on Neuronal Excitability and Involvement in the Pain of Rats with Chronic Pancreatitis. Zhang X, etal., J Neurogastroenterol Motil. 2016 Apr 30;22(2):333-43. doi: 10.5056/jnm15127.
37. Zhongguo Zhong xi yi jie he za zhi Zhongguo Zhongxiyi jiehe zazhi = Chinese journal of integrated traditional and Western medicine / Zhongguo Zhong xi yi jie he xue hui, Zhongguo Zhong yi yan jiu yuan zhu ban Zhang Y, etal., Zhongguo Zhong Xi Yi Jie He Za Zhi. 2007 Dec;27(12):1094-8.
Additional References at PubMed
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PMID:8530052   PMID:8530343   PMID:8555189   PMID:8576253   PMID:8622651   PMID:8752209   PMID:8774881   PMID:8980228   PMID:9045666   PMID:9136927   PMID:9215638   PMID:9311995  
PMID:9335505   PMID:9335507   PMID:9346894   PMID:9346908   PMID:9389648   PMID:9417915   PMID:9435577   PMID:9436979   PMID:9439661   PMID:9472030   PMID:9525694   PMID:9545258  
PMID:9661882   PMID:9738003   PMID:9748228   PMID:9759503   PMID:9774674   PMID:9856985   PMID:9865696   PMID:9872992   PMID:9892009   PMID:10025408   PMID:10085121   PMID:10716993  
PMID:10757800   PMID:11100470   PMID:11102446   PMID:11157754   PMID:11163210   PMID:11278251   PMID:11278302   PMID:11279102   PMID:11356828   PMID:11387212   PMID:11420127   PMID:11438668  
PMID:11483955   PMID:11583628   PMID:11746979   PMID:11820800   PMID:11850637   PMID:11867510   PMID:12000714   PMID:12015308   PMID:12017275   PMID:12065756   PMID:12082094   PMID:12145287  
PMID:12151385   PMID:12202987   PMID:12358857   PMID:12429842   PMID:12446693   PMID:12477932   PMID:12543979   PMID:12607775   PMID:12857866   PMID:12873459   PMID:12947057   PMID:14517293  
PMID:14580334   PMID:14597484   PMID:14633705   PMID:14657019   PMID:14702039   PMID:14718519   PMID:15009106   PMID:15146427   PMID:15148321   PMID:15155736   PMID:15177479   PMID:15178549  
PMID:15247277   PMID:15305380   PMID:15317461   PMID:15350225   PMID:15356634   PMID:15359284   PMID:15385056   PMID:15459392   PMID:15465036   PMID:15496141   PMID:15498571   PMID:15505640  
PMID:15546867   PMID:15597342   PMID:15599934   PMID:15611116   PMID:15657037   PMID:15661740   PMID:15702480   PMID:15761148   PMID:15761153   PMID:15833881   PMID:15860866   PMID:15863158  
PMID:15938776   PMID:15946939   PMID:15955593   PMID:15961557   PMID:16027725   PMID:16049346   PMID:16170343   PMID:16289162   PMID:16407286   PMID:16528739   PMID:16596670   PMID:16754747  
PMID:16791849   PMID:16806156   PMID:16835936   PMID:16857807   PMID:16928994   PMID:16947635   PMID:16950395   PMID:16980081   PMID:16998703   PMID:17072348   PMID:17087113   PMID:17099224  
PMID:17203972   PMID:17238135   PMID:17314099   PMID:17319955   PMID:17365852   PMID:17507611   PMID:17575241   PMID:17607123   PMID:17649947   PMID:17652900   PMID:17657819   PMID:17703412  
PMID:17705854   PMID:17845732   PMID:17848193   PMID:17848956   PMID:17878231   PMID:17890272   PMID:17936924   PMID:18095342   PMID:18097622   PMID:18174230   PMID:18174246   PMID:18202754  
PMID:18223258   PMID:18243111   PMID:18252868   PMID:18316594   PMID:18333754   PMID:18421475   PMID:18456797   PMID:18469808   PMID:18474728   PMID:18511908   PMID:18541723   PMID:18546940  
PMID:18550062   PMID:18591668   PMID:18625725   PMID:18676680   PMID:18683732   PMID:18703712   PMID:18711258   PMID:18721526   PMID:18758450   PMID:18778720   PMID:18781618   PMID:18922473  
PMID:18925687   PMID:18974388   PMID:18978678   PMID:19004027   PMID:19012493   PMID:19036501   PMID:19116361   PMID:19139564   PMID:19147499   PMID:19170196   PMID:19214138   PMID:19229971  
PMID:19255252   PMID:19258923   PMID:19293232   PMID:19299112   PMID:19299629   PMID:19322201   PMID:19336370   PMID:19375841   PMID:19390964   PMID:19401691   PMID:19426152   PMID:19453261  
PMID:19494318   PMID:19505916   PMID:19506300   PMID:19509225   PMID:19538729   PMID:19542084   PMID:19556242   PMID:19586667   PMID:19592635   PMID:19595713   PMID:19601999   PMID:19608716  
PMID:19625176   PMID:19626999   PMID:19639490   PMID:19639654   PMID:19672284   PMID:19688145   PMID:19690145   PMID:19692168   PMID:19711426   PMID:19732720   PMID:19736306   PMID:19758997  
PMID:19863607   PMID:19882361   PMID:19883511   PMID:19908237   PMID:19913121   PMID:19916025   PMID:19930569   PMID:19936899   PMID:19995547   PMID:19998449   PMID:20052600   PMID:20086175  
PMID:20101143   PMID:20101206   PMID:20207738   PMID:20301299   PMID:20301312   PMID:20354825   PMID:20368424   PMID:20379614   PMID:20403997   PMID:20427239   PMID:20428796   PMID:20429896  
PMID:20437058   PMID:20445748   PMID:20453000   PMID:20458730   PMID:20500843   PMID:20503287   PMID:20538960   PMID:20571025   PMID:20587546   PMID:20599261   PMID:20628086   PMID:20634891  
PMID:20662850   PMID:20663871   PMID:20675371   PMID:20705955   PMID:20734064   PMID:20856203   PMID:20924066   PMID:20959473   PMID:21030067   PMID:21068203   PMID:21127043   PMID:21170488  
PMID:21172820   PMID:21186301   PMID:21224855   PMID:21225232   PMID:21295082   PMID:21304536   PMID:21358634   PMID:21423151   PMID:21429769   PMID:21441952   PMID:21465483   PMID:21478266  
PMID:21539622   PMID:21629263   PMID:21677877   PMID:21751154   PMID:21785915   PMID:21791611   PMID:21815248   PMID:21821041   PMID:21858550   PMID:21873635   PMID:21924348   PMID:21962132  
PMID:21978186   PMID:22006998   PMID:22015652   PMID:22078045   PMID:22087763   PMID:22088447   PMID:22096025   PMID:22100658   PMID:22136666   PMID:22278155   PMID:22290546   PMID:22292045  
PMID:22314103   PMID:22344298   PMID:22414221   PMID:22473997   PMID:22496417   PMID:22532183   PMID:22610405   PMID:22617150   PMID:22624557   PMID:22651914   PMID:22706160   PMID:22714950  
PMID:22739178   PMID:22773947   PMID:22803051   PMID:22848678   PMID:22905183   PMID:22911926   PMID:23027871   PMID:23064961   PMID:23166821   PMID:23349840   PMID:23358096   PMID:23424236  
PMID:23455636   PMID:23548068   PMID:23624079   PMID:23723426   PMID:23734265   PMID:23788249   PMID:23832740   PMID:23868260   PMID:23874384   PMID:23899993   PMID:23973329   PMID:24103590  
PMID:24243761   PMID:24263861   PMID:24279395   PMID:24333532   PMID:24344132   PMID:24344637   PMID:24347165   PMID:24367547   PMID:24399296   PMID:24443023   PMID:24512448   PMID:24551192  
PMID:24558198   PMID:24658140   PMID:24747516   PMID:24771066   PMID:24793577   PMID:24816588   PMID:24850914   PMID:24860093   PMID:24939309   PMID:24954139   PMID:24978044   PMID:24981199  
PMID:25110237   PMID:25125747   PMID:25134534   PMID:25149540   PMID:25169976   PMID:25173755   PMID:25273091   PMID:25502482   PMID:25525159   PMID:25544563   PMID:25622187   PMID:25715477  
PMID:25825445   PMID:25826292   PMID:25872870   PMID:25882708   PMID:25893292   PMID:25998683   PMID:26037400   PMID:26074400   PMID:26150340   PMID:26152726   PMID:26165686   PMID:26169354  
PMID:26187313   PMID:26357964   PMID:26472812   PMID:26496610   PMID:26542979   PMID:26548632   PMID:26583147   PMID:26583432   PMID:26616150   PMID:26620926   PMID:26652004   PMID:26679521  
PMID:26720610   PMID:26766164   PMID:26807171   PMID:26872091   PMID:26919284   PMID:27048361   PMID:27105506   PMID:27112580   PMID:27162619   PMID:27171242   PMID:27234654   PMID:27248167  
PMID:27292796   PMID:27445263   PMID:27508510   PMID:27527810   PMID:27543359   PMID:27693460   PMID:27764818   PMID:27835901   PMID:27879313   PMID:27885255   PMID:28146434   PMID:28251559  
PMID:28277133   PMID:28373289   PMID:28489883   PMID:28518142   PMID:28522256   PMID:28574613   PMID:28625921   PMID:28632033   PMID:28633389   PMID:28815607   PMID:28847661   PMID:28981109  
PMID:29117863   PMID:29183791   PMID:29208458   PMID:29235674   PMID:29274137   PMID:29490279   PMID:29507755   PMID:29531222   PMID:29543232   PMID:29568061   PMID:29572483   PMID:29662646  
PMID:29706644   PMID:29735548   PMID:29742433   PMID:29971498   PMID:30032656   PMID:30115383   PMID:30135214   PMID:30142896   PMID:30184463   PMID:30212788   PMID:30219046   PMID:30232004  
PMID:30335615   PMID:30387848   PMID:30496724   PMID:30513140   PMID:30655341   PMID:30667085   PMID:30710564   PMID:30745168   PMID:30804470   PMID:30836988   PMID:30943320   PMID:30948511  
PMID:30987013   PMID:31027492   PMID:31098894   PMID:31171625   PMID:31182152   PMID:31196201   PMID:31300967   PMID:31339433   PMID:31390053   PMID:31545407   PMID:31545479   PMID:31581360  
PMID:31582001   PMID:31614978   PMID:31651066   PMID:31676070   PMID:31676288   PMID:31746425   PMID:31831099   PMID:31871319   PMID:31878829   PMID:31985874   PMID:31996061   PMID:32062130  
PMID:32062451   PMID:32152251   PMID:32210029   PMID:32281291   PMID:32324847   PMID:32423083   PMID:32499481   PMID:32535034   PMID:32581266   PMID:32635855   PMID:32694731   PMID:32751693  
PMID:32794622   PMID:32920014   PMID:33052230   PMID:33062039   PMID:33144569   PMID:33157202   PMID:33256177   PMID:33342936   PMID:33408307   PMID:33436942   PMID:33508008   PMID:33545359  
PMID:33570811   PMID:33604683   PMID:33684566   PMID:33693090   PMID:33731513   PMID:33762162   PMID:33845483   PMID:33905626   PMID:33955520   PMID:33961781   PMID:33964734   PMID:34220303  
PMID:34311327   PMID:34315543   PMID:34341185   PMID:34346740   PMID:34355836   PMID:34546211   PMID:34709727   PMID:34729648   PMID:34826189   PMID:34884451   PMID:34930205   PMID:34982346  
PMID:35007762   PMID:35017630   PMID:35188624   PMID:35264186   PMID:35271311   PMID:35323108   PMID:35327565   PMID:35384245   PMID:35501461   PMID:35643962   PMID:35696571   PMID:35721120  
PMID:35853811   PMID:35920128   PMID:36566567   PMID:36584339   PMID:36599937   PMID:36610398   PMID:36646950   PMID:36736316   PMID:36791912   PMID:36889311   PMID:36994542   PMID:37327315  
PMID:37743142   PMID:38328944  


Genomics

Comparative Map Data
TGFBR1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38999,103,647 - 99,154,192 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl999,104,038 - 99,154,192 (+)EnsemblGRCh38hg38GRCh38
GRCh379101,867,395 - 101,916,474 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369100,907,233 - 100,956,295 (+)NCBINCBI36Build 36hg18NCBI36
Build 34998,946,966 - 98,991,862NCBI
Celera972,381,280 - 72,430,335 (+)NCBICelera
Cytogenetic Map9q22.33NCBI
HuRef971,464,684 - 71,515,132 (+)NCBIHuRef
CHM1_19102,013,851 - 102,062,916 (+)NCBICHM1_1
T2T-CHM13v2.09111,275,348 - 111,325,904 (+)NCBIT2T-CHM13v2.0
Tgfbr1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39447,353,258 - 47,414,926 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl447,353,222 - 47,414,931 (+)EnsemblGRCm39 Ensembl
GRCm38447,353,222 - 47,414,926 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl447,353,222 - 47,414,931 (+)EnsemblGRCm38mm10GRCm38
MGSCv37447,366,177 - 47,427,796 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36447,374,405 - 47,436,024 (+)NCBIMGSCv36mm8
Celera447,375,763 - 47,437,373 (+)NCBICelera
Cytogenetic Map4B1NCBI
cM Map426.02NCBI
Tgfbr1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8566,449,348 - 66,506,371 (+)NCBIGRCr8
mRatBN7.2561,653,773 - 61,710,777 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl561,653,233 - 61,710,777 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx563,625,637 - 63,682,716 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0565,444,934 - 65,502,017 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0565,414,409 - 65,471,481 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0563,056,071 - 63,119,635 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl563,050,758 - 63,119,635 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0567,575,578 - 67,643,666 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0569,079,391 - 69,097,816 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4563,976,868 - 64,034,058 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1563,981,949 - 64,034,967 (+)NCBI
Celera565,882,184 - 65,907,477 (-)NCBICelera
Cytogenetic Map5q22NCBI
Tgfbr1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541926,490,899 - 26,547,017 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541926,490,899 - 26,546,349 (-)NCBIChiLan1.0ChiLan1.0
TGFBR1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21140,304,045 - 40,352,561 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1940,306,377 - 40,354,930 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0970,195,007 - 70,243,514 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1998,337,417 - 98,362,748 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl998,332,739 - 98,362,748 (+)Ensemblpanpan1.1panPan2
TGFBR1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11156,191,383 - 56,223,042 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1156,161,772 - 56,218,594 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1154,594,299 - 54,654,173 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01157,272,690 - 57,331,474 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1157,272,651 - 57,331,431 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11155,775,923 - 55,835,949 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01155,800,862 - 55,860,799 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01156,499,979 - 56,559,879 (+)NCBIUU_Cfam_GSD_1.0
Tgfbr1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947171,109,141 - 171,133,324 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365247,655,847 - 7,681,097 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365247,656,523 - 7,680,043 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TGFBR1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1240,860,156 - 240,918,528 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11240,842,735 - 240,918,267 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21269,090,577 - 269,149,183 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TGFBR1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11240,272,507 - 40,321,740 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1240,276,916 - 40,297,372 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660352,236,283 - 2,258,310 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tgfbr1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248251,839,178 - 1,899,156 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248251,773,158 - 1,899,120 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TGFBR1
859 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004612.4(TGFBR1):c.154G>C (p.Gly52Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000777702]|Multiple self-healing squamous epithelioma [RCV000022803] Chr9:99128911 [GRCh38]
Chr9:101891193 [GRCh37]
Chr9:9q22.33		 risk factor|uncertain significance
NM_004612.4(TGFBR1):c.806-2A>C single nucleotide variant Multiple self-healing squamous epithelioma [RCV000022804] Chr9:99142534 [GRCh38]
Chr9:101904816 [GRCh37]
Chr9:9q22.33		 risk factor
NM_004612.4(TGFBR1):c.89G>T (p.Gly30Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000525047] Chr9:99105294 [GRCh38]
Chr9:101867576 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.781G>T (p.Gly261Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000551498] Chr9:99138065 [GRCh38]
Chr9:101900347 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.1447C>T (p.Leu483Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000553329] Chr9:99149240 [GRCh38]
Chr9:101911522 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.134A>G (p.Asn45Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000654793]|Isolated thoracic aortic aneurysm [RCV001374784]|Loeys-Dietz syndrome 1 [RCV002477006]|Multiple self-healing squamous epithelioma [RCV000022802]|not provided [RCV000766900]|not specified [RCV000454530] Chr9:99128891 [GRCh38]
Chr9:101891173 [GRCh37]
Chr9:9q22.33		 pathogenic|risk factor|uncertain significance
NM_004612.4(TGFBR1):c.1240C>T (p.Arg414Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000474057]|Multiple self-healing squamous epithelioma [RCV000022805] Chr9:99146594 [GRCh38]
Chr9:101908876 [GRCh37]
Chr9:9q22.33		 pathogenic|risk factor
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) single nucleotide variant Ehlers-Danlos syndrome [RCV002277107]|Familial thoracic aortic aneurysm and aortic dissection [RCV000245145]|Loeys-Dietz syndrome 1 [RCV000305975]|Loeys-Dietz syndrome [RCV000030538]|Multiple self-healing squamous epithelioma [RCV003315523]|not provided [RCV001573786]|not specified [RCV000038235] Chr9:99144883 [GRCh38]
Chr9:101907165 [GRCh37]
Chr9:9q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004612.4(TGFBR1):c.344-74del deletion Loeys-Dietz syndrome [RCV000030539] Chr9:99132434 [GRCh38]
Chr9:101894716 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.599C>T (p.Thr200Ile) single nucleotide variant Loeys-Dietz syndrome 1 [RCV000013347] Chr9:99137883 [GRCh38]
Chr9:101900165 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.1460G>C (p.Arg487Pro) single nucleotide variant Loeys-Dietz syndrome 1 [RCV000013348] Chr9:99149253 [GRCh38]
Chr9:101911535 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) single nucleotide variant Cardiovascular phenotype [RCV000617152]|Familial thoracic aortic aneurysm and aortic dissection [RCV000244262]|Loeys-Dietz syndrome 1 [RCV000013350]|Loeys-Dietz syndrome 1 [RCV000845292]|Loeys-Dietz syndrome 1 [RCV003224094]|Loeys-Dietz syndrome [RCV000030540]|not provided [RCV000442105] Chr9:99138006 [GRCh38]
Chr9:101900288 [GRCh37]
Chr9:9q22.33		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000463090]|Loeys-Dietz syndrome 1 [RCV000013351]|Loeys-Dietz syndrome [RCV000211857]|Loeys-Dietz syndrome [RCV001194075]|not provided [RCV000196834] Chr9:99149253 [GRCh38]
Chr9:101911535 [GRCh37]
Chr9:9q22.33		 pathogenic|likely pathogenic
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000251089]|Loeys-Dietz syndrome 1 [RCV000013352]|Loeys-Dietz syndrome 1 [RCV000763611]|Loeys-Dietz syndrome [RCV000211856]|not provided [RCV000200764] Chr9:99149252 [GRCh38]
Chr9:101911534 [GRCh37]
Chr9:9q22.33		 pathogenic|likely pathogenic
NM_004612.4(TGFBR1):c.521G>T (p.Gly174Val) single nucleotide variant Loeys-Dietz syndrome 1 [RCV000013353] Chr9:99132686 [GRCh38]
Chr9:101894968 [GRCh37]
Chr9:9q22.33		 pathogenic
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000050315] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1		 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
NM_004612.4(TGFBR1):c.1032T>C (p.Asn344=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000246429]|Loeys-Dietz syndrome 1 [RCV000337463]|Loeys-Dietz syndrome [RCV000283461]|not provided [RCV001310668]|not specified [RCV000038234] Chr9:99144790 [GRCh38]
Chr9:101907072 [GRCh37]
Chr9:9q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004612.4(TGFBR1):c.1152C>T (p.Leu384=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000245235]|Multiple self-healing squamous epithelioma [RCV003315557]|not provided [RCV000590186]|not specified [RCV000038236] Chr9:99146506 [GRCh38]
Chr9:101908788 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000249900]|Multiple self-healing squamous epithelioma [RCV003315558]|not provided [RCV001711126]|not specified [RCV000038237] Chr9:99146570 [GRCh38]
Chr9:101908852 [GRCh37]
Chr9:9q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004612.4(TGFBR1):c.1387-4G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001460493]|not provided [RCV003326335]|not specified [RCV000038238] Chr9:99149176 [GRCh38]
Chr9:101911458 [GRCh37]
Chr9:9q22.33		 likely benign|uncertain significance
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000243163]|Loeys-Dietz syndrome 1 [RCV000267898]|Loeys-Dietz syndrome [RCV000303277]|TGFBR1-related condition [RCV003934922]|not provided [RCV000585380]|not specified [RCV000038239] Chr9:99132693 [GRCh38]
Chr9:101894975 [GRCh37]
Chr9:9q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.596G>A (p.Arg199Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001348922]|not specified [RCV000038240] Chr9:99137880 [GRCh38]
Chr9:101900162 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.779T>A (p.Leu260Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002514151]|not specified [RCV000038241] Chr9:99138063 [GRCh38]
Chr9:101900345 [GRCh37]
Chr9:9q22.33		 pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.-2C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313019]|not provided [RCV000586860]|not specified [RCV000173352] Chr9:99105204 [GRCh38]
Chr9:101867486 [GRCh37]
Chr9:9q22.33		 benign|likely benign|uncertain significance
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 9q22.1-32(chr9:88522292-113687796)x3 copy number gain See cases [RCV000053752] Chr9:88522292..113687796 [GRCh38]
Chr9:91137207..116450076 [GRCh37]
Chr9:90327027..115489897 [NCBI36]
Chr9:9q22.1-32		 pathogenic
GRCh38/hg38 9q22.32-31.2(chr9:94184266-106730550)x3 copy number gain See cases [RCV000053774] Chr9:94184266..106730550 [GRCh38]
Chr9:96946548..109492831 [GRCh37]
Chr9:95986369..108532652 [NCBI36]
Chr9:9q22.32-31.2		 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
NM_004612.4(TGFBR1):c.97+14C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000660314] Chr9:99105316 [GRCh38]
Chr9:101867598 [GRCh37]
Chr9:9q22.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.292A>T (p.Thr98Ser) single nucleotide variant Ehlers-Danlos syndrome [RCV002279479]|Familial thoracic aortic aneurysm and aortic dissection [RCV000660315]|not provided [RCV001570240] Chr9:99129049 [GRCh38]
Chr9:101891331 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1303G>C (p.Asp435His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000660318] Chr9:99147701 [GRCh38]
Chr9:101909983 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.1199A>G (p.Asp400Gly) single nucleotide variant Loeys-Dietz syndrome 1 [RCV000013346] Chr9:99146553 [GRCh38]
Chr9:101908835 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.953T>G (p.Met318Arg) single nucleotide variant Loeys-Dietz syndrome 1 [RCV000119102] Chr9:99142683 [GRCh38]
Chr9:101904965 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.248C>T (p.Pro83Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001302782] Chr9:99129005 [GRCh38]
Chr9:101891287 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.935G>T (p.Gly312Val) single nucleotide variant not provided [RCV001812429] Chr9:99142665 [GRCh38]
Chr9:101904947 [GRCh37]
Chr9:9q22.33		 uncertain significance
Single allele deletion Intellectual disability [RCV001293373] Chr9:97834573..107199088 [GRCh37]
Chr9:9q22.32-31.1		 pathogenic
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_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) single nucleotide variant Ehlers-Danlos syndrome [RCV002277294]|Familial thoracic aortic aneurysm and aortic dissection [RCV000229867]|Loeys-Dietz syndrome 1 [RCV000148890]|Loeys-Dietz syndrome 1 [RCV002478418]|TGFBR1-related condition [RCV003975170]|not provided [RCV000726645]|not specified [RCV000199866] Chr9:99149226 [GRCh38]
Chr9:101911508 [GRCh37]
Chr9:9q22.33		 conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1 copy number loss See cases [RCV000134375] Chr9:95061030..108695569 [GRCh38]
Chr9:97823312..111457849 [GRCh37]
Chr9:96863133..110497670 [NCBI36]
Chr9:9q22.32-31.3		 pathogenic
GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3 copy number gain See cases [RCV000136788] Chr9:68420430..106579493 [GRCh38]
Chr9:71130848..109341774 [GRCh37]
Chr9:70225166..108381595 [NCBI36]
Chr9:9q21.11-31.2		 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 9q22.33-31.3(chr9:99024205-109947890)x1 copy number loss See cases [RCV000138281] Chr9:99024205..109947890 [GRCh38]
Chr9:101786487..112710170 [GRCh37]
Chr9:100826308..111749991 [NCBI36]
Chr9:9q22.33-31.3		 pathogenic|likely 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 9q21.12-31.3(chr9:69627642-111454304)x3 copy number gain See cases [RCV000139789] Chr9:69627642..111454304 [GRCh38]
Chr9:72242558..114216584 [GRCh37]
Chr9:71432378..113256405 [NCBI36]
Chr9:9q21.12-31.3		 pathogenic
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_004612.4(TGFBR1):c.415A>G (p.Ile139Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000229273]|Loeys-Dietz syndrome 1 [RCV000328066]|Loeys-Dietz syndrome [RCV000384899]|not provided [RCV000766901]|not specified [RCV000154441] Chr9:99132580 [GRCh38]
Chr9:101894862 [GRCh37]
Chr9:9q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.994_999del (p.Arg332_Asp333del) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV003528143]|not specified [RCV000154542] Chr9:99144750..99144755 [GRCh38]
Chr9:101907032..101907037 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001085490]|Loeys-Dietz syndrome 1 [RCV001166106]|not provided [RCV000861480]|not specified [RCV000154850] Chr9:99128877 [GRCh38]
Chr9:101891159 [GRCh37]
Chr9:9q22.33		 benign|likely benign|uncertain significance
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) single nucleotide variant Ehlers-Danlos syndrome [RCV002277306]|Familial thoracic aortic aneurysm and aortic dissection [RCV000551891]|TGFBR1-related condition [RCV003416008]|not provided [RCV000788208]|not specified [RCV000154851] Chr9:99128971 [GRCh38]
Chr9:101891253 [GRCh37]
Chr9:9q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.203A>G (p.Asn68Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528142]|not specified [RCV000152001] Chr9:99128960 [GRCh38]
Chr9:101891242 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.640G>T (p.Gly214Cys) single nucleotide variant not specified [RCV000152002] Chr9:99137924 [GRCh38]
Chr9:101900206 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.799A>G (p.Asn267Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000654806]|not specified [RCV000152003] Chr9:99138083 [GRCh38]
Chr9:101900365 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) microsatellite Ehlers-Danlos syndrome [RCV002277299]|Familial thoracic aortic aneurysm and aortic dissection [RCV000206714]|Loeys-Dietz syndrome 1 [RCV000263723]|Loeys-Dietz syndrome [RCV000203000]|Thoracic aortic aneurysm [RCV003148659]|not provided [RCV000755402]|not specified [RCV000152000] Chr9:99105256..99105264 [GRCh38]
Chr9:101867538..101867546 [GRCh37]
Chr9:9q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 copy number loss See cases [RCV000148264] Chr9:99138048..115011033 [GRCh38]
Chr9:101900330..117773312 [GRCh37]
Chr9:100940151..116813133 [NCBI36]
Chr9:9q22.33-33.1		 pathogenic
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_004612.4(TGFBR1):c.400G>A (p.Val134Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000157516] Chr9:99132565 [GRCh38]
Chr9:101894847 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002516367]|Loeys-Dietz syndrome [RCV000157517] Chr9:99149237 [GRCh38]
Chr9:101911519 [GRCh37]
Chr9:9q22.33		 pathogenic|likely pathogenic
NM_004612.4(TGFBR1):c.1131-402T>G single nucleotide variant not provided [RCV000190306] Chr9:99146083 [GRCh38]
Chr9:101908365 [GRCh37]
Chr9:9q22.33		 not provided
NM_004612.4(TGFBR1):c.1231A>G (p.Ile411Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001314592] Chr9:99146585 [GRCh38]
Chr9:101908867 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1387-15del deletion not provided [RCV001582691]|not specified [RCV000200300] Chr9:99149155 [GRCh38]
Chr9:101911437 [GRCh37]
Chr9:9q22.33		 benign|likely benign|no classifications from unflagged records
NM_004612.4(TGFBR1):c.724T>C (p.Trp242Arg) single nucleotide variant not provided [RCV000200391] Chr9:99138008 [GRCh38]
Chr9:101900290 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.1013A>C (p.Asn338Thr) single nucleotide variant not provided [RCV000196560] Chr9:99144771 [GRCh38]
Chr9:101907053 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.343+3A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000530331]|not provided [RCV002222332]|not specified [RCV000196672] Chr9:99129103 [GRCh38]
Chr9:101891385 [GRCh37]
Chr9:9q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.575-9dup duplication Ehlers-Danlos syndrome [RCV002277546]|Familial thoracic aortic aneurysm and aortic dissection [RCV000306733]|Loeys-Dietz syndrome 1 [RCV000363637]|Loeys-Dietz syndrome [RCV000271297]|not specified [RCV000200458] Chr9:99137845..99137846 [GRCh38]
Chr9:101900127..101900128 [GRCh37]
Chr9:9q22.33		 benign|likely benign
NM_004612.4(TGFBR1):c.696G>C (p.Lys232Asn) single nucleotide variant not provided [RCV000200533] Chr9:99137980 [GRCh38]
Chr9:101900262 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.1487G>A (p.Ser496Asn) single nucleotide variant not provided [RCV000200620] Chr9:99149280 [GRCh38]
Chr9:101911562 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.3(TGFBR1):c.614T>C (p.Ile205Thr) single nucleotide variant not provided [RCV000200667] Chr9:99137898 [GRCh38]
Chr9:101900180 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.648T>G (p.Phe216Leu) single nucleotide variant not provided [RCV000196750] Chr9:99137932 [GRCh38]
Chr9:101900214 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.20C>T (p.Ala7Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000811870]|not provided [RCV000196930] Chr9:99105225 [GRCh38]
Chr9:101867507 [GRCh37]
Chr9:9q22.33		 likely benign|uncertain significance
NM_004612.4(TGFBR1):c.1387-14dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV001186908]|not specified [RCV000197086] Chr9:99149165..99149166 [GRCh38]
Chr9:101911447..101911448 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.758T>C (p.Met253Thr) single nucleotide variant not provided [RCV000197160] Chr9:99138042 [GRCh38]
Chr9:101900324 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.707C>T (p.Ser236Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002363012]|not provided [RCV000197297]|not specified [RCV000507920] Chr9:99137991 [GRCh38]
Chr9:101900273 [GRCh37]
Chr9:9q22.33		 likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV001380058]|Loeys-Dietz syndrome [RCV000825630]|not provided [RCV000197382] Chr9:99137962..99137964 [GRCh38]
Chr9:101900244..101900246 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.797A>G (p.Asp266Gly) single nucleotide variant Loeys-Dietz syndrome 1 [RCV003147394]|not provided [RCV000197559] Chr9:99138081 [GRCh38]
Chr9:101900363 [GRCh37]
Chr9:9q22.33		 pathogenic|likely pathogenic
NM_004612.4(TGFBR1):c.1306C>G (p.Pro436Ala) single nucleotide variant not provided [RCV000197644] Chr9:99147704 [GRCh38]
Chr9:101909986 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000688891]|Loeys-Dietz syndrome 1 [RCV002503767]|not specified [RCV000197704] Chr9:99142574 [GRCh38]
Chr9:101904856 [GRCh37]
Chr9:9q22.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.965G>A (p.Gly322Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001373794]|TGFBR1-related condition [RCV003982941]|not provided [RCV000197792] Chr9:99142695 [GRCh38]
Chr9:101904977 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.434T>G (p.Val145Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002515369]|not provided [RCV000197880] Chr9:99132599 [GRCh38]
Chr9:101894881 [GRCh37]
Chr9:9q22.33		 likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.428T>A (p.Leu143Ter) single nucleotide variant not provided [RCV000197925] Chr9:99132593 [GRCh38]
Chr9:101894875 [GRCh37]
Chr9:9q22.33		 pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.1052A>C (p.Asp351Ala) single nucleotide variant not provided [RCV000198106] Chr9:99144810 [GRCh38]
Chr9:101907092 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.655G>T (p.Val219Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001041114]|not provided [RCV000198291] Chr9:99137939 [GRCh38]
Chr9:101900221 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.586C>T (p.Leu196Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002515370]|Loeys-Dietz syndrome 1 [RCV002272171]|not provided [RCV000198438] Chr9:99137870 [GRCh38]
Chr9:101900152 [GRCh37]
Chr9:9q22.33		 likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.1420T>C (p.Cys474Arg) single nucleotide variant not provided [RCV000198521] Chr9:99149213 [GRCh38]
Chr9:101911495 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.3(TGFBR1):c.1166A>G (p.Asn389Ser) single nucleotide variant not specified [RCV000198646] Chr9:99146520 [GRCh38]
Chr9:101908802 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1256-13T>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001804932]|not specified [RCV000198776] Chr9:99147641 [GRCh38]
Chr9:101909923 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.709A>G (p.Arg237Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002515371]|not specified [RCV000198846] Chr9:99137993 [GRCh38]
Chr9:101900275 [GRCh37]
Chr9:9q22.33		 likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.1110C>G (p.Asn370Lys) single nucleotide variant not provided [RCV000195433] Chr9:99144868 [GRCh38]
Chr9:101907150 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.702CTC[1] (p.Ser236del) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV001341631] Chr9:99137986..99137988 [GRCh38]
Chr9:101900268..101900270 [GRCh37]
Chr9:9q22.33		 pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.1466A>C (p.Lys489Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002396828] Chr9:99149259 [GRCh38]
Chr9:101911541 [GRCh37]
Chr9:9q22.33		 likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.824A>G (p.Gln275Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528154]|not provided [RCV000195485] Chr9:99142554 [GRCh38]
Chr9:101904836 [GRCh37]
Chr9:9q22.33		 likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.860C>T (p.Ser287Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528155]|not provided [RCV000195572] Chr9:99142590 [GRCh38]
Chr9:101904872 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.23C>T (p.Pro8Leu) single nucleotide variant not specified [RCV000199173] Chr9:99105228 [GRCh38]
Chr9:101867510 [GRCh37]
Chr9:9q22.33		 likely benign|uncertain significance
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) single nucleotide variant Familial aortopathy [RCV003235118]|Familial thoracic aortic aneurysm and aortic dissection [RCV001187849]|Loeys-Dietz syndrome 1 [RCV002255135]|Loeys-Dietz syndrome [RCV000208245]|not provided [RCV000199247] Chr9:99142664 [GRCh38]
Chr9:101904946 [GRCh37]
Chr9:9q22.33		 pathogenic|likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.-50_-49del deletion not specified [RCV000199296] Chr9:99105156..99105157 [GRCh38]
Chr9:101867438..101867439 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.820A>G (p.Thr274Ala) single nucleotide variant not provided [RCV000199389] Chr9:99142550 [GRCh38]
Chr9:101904832 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.52GCG[10] (p.Ala26dup) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV000526310]|TGFBR1-related condition [RCV003937726]|not provided [RCV001579589]|not specified [RCV000195794] Chr9:99105255..99105256 [GRCh38]
Chr9:101867537..101867538 [GRCh37]
Chr9:9q22.33		 pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.50_58del (p.Leu17_Ala20delinsPro) deletion not specified [RCV000195959] Chr9:99105255..99105263 [GRCh38]
Chr9:101867537..101867545 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.613A>G (p.Ile205Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000696683]|Loeys-Dietz syndrome 1 [RCV000623797]|Loeys-Dietz syndrome 1 [RCV000766034]|not provided [RCV000199482] Chr9:99137897 [GRCh38]
Chr9:101900179 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.207C>T (p.Ser69=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000231583]|TGFBR1-related condition [RCV003947627]|not provided [RCV000199569] Chr9:99128964 [GRCh38]
Chr9:101891246 [GRCh37]
Chr9:9q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.1093A>G (p.Ile365Val) single nucleotide variant not provided [RCV000199651] Chr9:99144851 [GRCh38]
Chr9:101907133 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.973+1G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001170914]|not provided [RCV000196022] Chr9:99142704 [GRCh38]
Chr9:101904986 [GRCh37]
Chr9:9q22.33		 pathogenic|likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.52GCG[8] (p.Ala26del) microsatellite Ehlers-Danlos syndrome [RCV002277547]|Familial thoracic aortic aneurysm and aortic dissection [RCV000246233]|not provided [RCV001722085]|not specified [RCV000199722] Chr9:99105256..99105258 [GRCh38]
Chr9:101867538..101867540 [GRCh37]
Chr9:9q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004612.4(TGFBR1):c.978G>C (p.Lys326Asn) single nucleotide variant not provided [RCV000199785] Chr9:99144736 [GRCh38]
Chr9:101907018 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.192A>G (p.Lys64=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000250211]|Multiple self-healing squamous epithelioma [RCV003316090]|not specified [RCV000199885] Chr9:99128949 [GRCh38]
Chr9:101891231 [GRCh37]
Chr9:9q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004612.3(TGFBR1):c.557C>T (p.Thr186Met) single nucleotide variant not specified [RCV000196230] Chr9:99132722 [GRCh38]
Chr9:101895004 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1255G>A (p.Gly419Arg) single nucleotide variant not provided [RCV000196313] Chr9:99146609 [GRCh38]
Chr9:101908891 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.409G>A (p.Val137Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002321793]|not provided [RCV000762567] Chr9:99132574 [GRCh38]
Chr9:101894856 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1144G>A (p.Glu382Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001857726]|not provided [RCV000196433] Chr9:99146498 [GRCh38]
Chr9:101908780 [GRCh37]
Chr9:9q22.33		 likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.977A>G (p.Lys326Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000459749]|not provided [RCV000200025] Chr9:99144735 [GRCh38]
Chr9:101907017 [GRCh37]
Chr9:9q22.33		 likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) single nucleotide variant Ehlers-Danlos syndrome [RCV002277548]|Familial thoracic aortic aneurysm and aortic dissection [RCV000251582]|Loeys-Dietz syndrome 1 [RCV000349783]|Loeys-Dietz syndrome 1 [RCV003227711]|Loeys-Dietz syndrome [RCV000292925]|not provided [RCV001580027]|not specified [RCV000200131] Chr9:99132622 [GRCh38]
Chr9:101894904 [GRCh37]
Chr9:9q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.935G>A (p.Gly312Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000458811]|Familial thoracic aortic aneurysm and aortic dissection [RCV001837763]|not provided [RCV000519713] Chr9:99142665 [GRCh38]
Chr9:101904947 [GRCh37]
Chr9:9q22.33		 likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.640G>A (p.Gly214Ser) single nucleotide variant Loeys-Dietz syndrome 1 [RCV000578271] Chr9:99137924 [GRCh38]
Chr9:101900206 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.222A>C (p.Glu74Asp) single nucleotide variant Craniosynostosis syndrome [RCV000985274]|Familial thoracic aortic aneurysm and aortic dissection [RCV000207996] Chr9:99128979 [GRCh38]
Chr9:101891261 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.80_85del (p.Leu27_Leu28del) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001870700]|not specified [RCV002236183] Chr9:99105284..99105289 [GRCh38]
Chr9:101867566..101867571 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.49C>T (p.Leu17=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001083934]|Loeys-Dietz syndrome 1 [RCV001169013]|TGFBR1-related condition [RCV003897552]|not provided [RCV000487891]|not specified [RCV003226263] Chr9:99105254 [GRCh38]
Chr9:101867536 [GRCh37]
Chr9:9q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.368C>T (p.Pro123Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000226439]|not provided [RCV000493898] Chr9:99132533 [GRCh38]
Chr9:101894815 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1125A>G (p.Thr375=) single nucleotide variant Ehlers-Danlos syndrome [RCV002277590]|Familial thoracic aortic aneurysm and aortic dissection [RCV001429074] Chr9:99144883 [GRCh38]
Chr9:101907165 [GRCh37]
Chr9:9q22.33		 likely benign|uncertain significance
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179697]|Loeys-Dietz syndrome 1 [RCV002500976]|not provided [RCV000756777]|not specified [RCV000780773] Chr9:99128956 [GRCh38]
Chr9:101891238 [GRCh37]
Chr9:9q22.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.46G>A (p.Val16Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000545217]|not provided [RCV001540217]|not specified [RCV003323614] Chr9:99105251 [GRCh38]
Chr9:101867533 [GRCh37]
Chr9:9q22.33		 likely benign|conflicting interpretations of pathogenicity|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_004612.4(TGFBR1):c.752_806-1129del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV000547887] Chr9:99138036..99141407 [GRCh38]
Chr9:101900318..101903689 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.2:c.76_78delCGC deletion Familial thoracic aortic aneurysm and aortic dissection [RCV000249803] Chr9:9q22.33 benign
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001042584]|Loeys-Dietz syndrome [RCV000582499]|Marfan syndrome [RCV002288945] Chr9:99138041 [GRCh38]
Chr9:101900323 [GRCh37]
Chr9:9q22.33		 pathogenic|likely pathogenic
NM_004612.4(TGFBR1):c.835G>C (p.Val279Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000654795] Chr9:99142565 [GRCh38]
Chr9:101904847 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.611C>T (p.Thr204Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000246351]|not provided [RCV001582900] Chr9:99137895 [GRCh38]
Chr9:101900177 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.805+39A>G single nucleotide variant Multiple self-healing squamous epithelioma [RCV003316412]|not provided [RCV001636783]|not specified [RCV000246634] Chr9:99138128 [GRCh38]
Chr9:101900410 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.52GCG[7] (p.Ala25_Ala26del) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV000865938]|TGFBR1-related condition [RCV003955401]|not provided [RCV001705391] Chr9:99105256..99105261 [GRCh38]
Chr9:101867538..101867543 [GRCh37]
Chr9:9q22.33		 benign|likely benign
NM_004612.4(TGFBR1):c.1136T>C (p.Met379Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001046474]|not provided [RCV001764237] Chr9:99146490 [GRCh38]
Chr9:101908772 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1497A>G (p.Glu499=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000531762]|not provided [RCV001579460]|not specified [RCV000242124] Chr9:99149290 [GRCh38]
Chr9:101911572 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1255+24G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001514616]|Loeys-Dietz syndrome 1 [RCV001838577]|Multiple self-healing squamous epithelioma [RCV003316411]|not provided [RCV001651185]|not specified [RCV000252000] Chr9:99146633 [GRCh38]
Chr9:101908915 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.1457T>G (p.Leu486Trp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311195] Chr9:99149250 [GRCh38]
Chr9:101911532 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.587T>G (p.Leu196Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310941] Chr9:99137871 [GRCh38]
Chr9:101900153 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1301C>G (p.Ser434Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525148]|not provided [RCV002223832] Chr9:99147699 [GRCh38]
Chr9:101909981 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.3(TGFBR1):c.51_59delGGCGGCGGC (p.Ala24_Ala26del) deletion Thoracic aortic aneurysm and aortic dissection [RCV000242976] Chr9:99105256..99105264 [GRCh38]
Chr9:101867538..101867546 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.1301C>T (p.Ser434Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000527549] Chr9:99147699 [GRCh38]
Chr9:101909981 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.71_75del (p.Ala24fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002310832] Chr9:99105275..99105279 [GRCh38]
Chr9:101867557..101867561 [GRCh37]
Chr9:9q22.33		 pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.1302_1303dup (p.Asp435fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002310869] Chr9:99147699..99147700 [GRCh38]
Chr9:101909981..101909982 [GRCh37]
Chr9:9q22.33		 pathogenic|uncertain significance
NM_004612.2:c.76_78dupCG duplication Familial thoracic aortic aneurysm and aortic dissection [RCV000244301] Chr9:9q22.33 benign
NM_004612.4(TGFBR1):c.32G>C (p.Arg11Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001039839] Chr9:99105237 [GRCh38]
Chr9:101867519 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.282T>C (p.Ser94=) single nucleotide variant Cardiovascular phenotype [RCV000253236] Chr9:99129039 [GRCh38]
Chr9:101891321 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1041C>G (p.Cys347Trp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001059804] Chr9:99144799 [GRCh38]
Chr9:101907081 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*884A>G single nucleotide variant Ehlers-Danlos syndrome [RCV002278627]|Familial thoracic aortic aneurysm and aortic dissection [RCV000325466]|Loeys-Dietz syndrome 1 [RCV000382288]|Loeys-Dietz syndrome [RCV000267995] Chr9:99150189 [GRCh38]
Chr9:101912471 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.*1269T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000405391]|Loeys-Dietz syndrome 1 [RCV000301181]|Loeys-Dietz syndrome [RCV000339759] Chr9:99150574 [GRCh38]
Chr9:101912856 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*3286G>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000341985]|Loeys-Dietz syndrome 1 [RCV000301868]|Loeys-Dietz syndrome [RCV000392864] Chr9:99152591 [GRCh38]
Chr9:101914873 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.*2799C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000321311]|Loeys-Dietz syndrome 1 [RCV000268496]|Loeys-Dietz syndrome [RCV000377888] Chr9:99152104 [GRCh38]
Chr9:101914386 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*3482C>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000377063]|Loeys-Dietz syndrome 1 [RCV000285031]|Loeys-Dietz syndrome [RCV000337232] Chr9:99152787 [GRCh38]
Chr9:101915069 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*360A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000377036]|Loeys-Dietz syndrome 1 [RCV000284927]|Loeys-Dietz syndrome [RCV000323275] Chr9:99149665 [GRCh38]
Chr9:101911947 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*2791G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000327193]|Loeys-Dietz syndrome 1 [RCV000269533]|Loeys-Dietz syndrome [RCV000379471] Chr9:99152096 [GRCh38]
Chr9:101914378 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2179del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV000392889]|Loeys-Dietz syndrome 1 [RCV000343689]|Loeys-Dietz syndrome [RCV000303984] Chr9:99151484 [GRCh38]
Chr9:101913766 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*3790C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000270102]|Loeys-Dietz syndrome 1 [RCV000322789]|Loeys-Dietz syndrome [RCV000379586] Chr9:99153095 [GRCh38]
Chr9:101915377 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*4809A>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000365004]|Loeys-Dietz syndrome 1 [RCV000306790]|Loeys-Dietz syndrome [RCV000270331] Chr9:99154114 [GRCh38]
Chr9:101916396 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*4489T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000339851]|Loeys-Dietz syndrome 1 [RCV000304946]|Loeys-Dietz syndrome [RCV000393552]|not provided [RCV001653743] Chr9:99153794 [GRCh38]
Chr9:101916076 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.*2086T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000362960]|Loeys-Dietz syndrome 1 [RCV000271775]|Loeys-Dietz syndrome [RCV000326810] Chr9:99151391 [GRCh38]
Chr9:101913673 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*2645A>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000343232]|Loeys-Dietz syndrome 1 [RCV000288215]|Loeys-Dietz syndrome [RCV000382630]|not provided [RCV001786386] Chr9:99151950 [GRCh38]
Chr9:101914232 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*1804A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000383067]|Loeys-Dietz syndrome 1 [RCV000343619]|Loeys-Dietz syndrome [RCV000288617] Chr9:99151109 [GRCh38]
Chr9:101913391 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*2106G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000347265]|Loeys-Dietz syndrome 1 [RCV000383146]|Loeys-Dietz syndrome [RCV000288689]|not provided [RCV002263659] Chr9:99151411 [GRCh38]
Chr9:101913693 [GRCh37]
Chr9:9q22.33		 benign|likely benign|uncertain significance
NM_004612.4(TGFBR1):c.*4356A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000333175]|Loeys-Dietz syndrome 1 [RCV000387703]|Loeys-Dietz syndrome [RCV000288759] Chr9:99153661 [GRCh38]
Chr9:101915943 [GRCh37]
Chr9:9q22.33		 likely benign|uncertain significance
NM_004612.4(TGFBR1):c.*3262C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000347660]|Loeys-Dietz syndrome 1 [RCV000400815]|Loeys-Dietz syndrome [RCV000289297] Chr9:99152567 [GRCh38]
Chr9:101914849 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*3382T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000273421]|Loeys-Dietz syndrome 1 [RCV000370243]|Loeys-Dietz syndrome [RCV000330892] Chr9:99152687 [GRCh38]
Chr9:101914969 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*1183G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000328728]|Loeys-Dietz syndrome 1 [RCV000290299]|Loeys-Dietz syndrome [RCV000385585] Chr9:99150488 [GRCh38]
Chr9:101912770 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*3261T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000385762]|Loeys-Dietz syndrome 1 [RCV000290422]|Loeys-Dietz syndrome [RCV000333569] Chr9:99152566 [GRCh38]
Chr9:101914848 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*1659T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000349340]|Loeys-Dietz syndrome 1 [RCV000290706]|Loeys-Dietz syndrome [RCV000385048] Chr9:99150964 [GRCh38]
Chr9:101913246 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*4578T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000381609]|Loeys-Dietz syndrome 1 [RCV000327431]|Loeys-Dietz syndrome [RCV000291169]|not provided [RCV001613218] Chr9:99153883 [GRCh38]
Chr9:101916165 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.*4499G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000275564]|Loeys-Dietz syndrome 1 [RCV000355825]|Loeys-Dietz syndrome [RCV000330631]|not provided [RCV001785603] Chr9:99153804 [GRCh38]
Chr9:101916086 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*566T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000408144]|Loeys-Dietz syndrome 1 [RCV000348976]|Loeys-Dietz syndrome [RCV000291814] Chr9:99149871 [GRCh38]
Chr9:101912153 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*4300C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000386672]|Loeys-Dietz syndrome 1 [RCV000292160]|Loeys-Dietz syndrome [RCV000318195]|not provided [RCV001785602] Chr9:99153605 [GRCh38]
Chr9:101915887 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*3317C>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000331965]|Loeys-Dietz syndrome 1 [RCV000260584]|Loeys-Dietz syndrome [RCV000353043] Chr9:99152622 [GRCh38]
Chr9:101914904 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2410C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000355745]|Loeys-Dietz syndrome 1 [RCV000260921]|Loeys-Dietz syndrome [RCV000297360] Chr9:99151715 [GRCh38]
Chr9:101913997 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*4565T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000371218]|Loeys-Dietz syndrome 1 [RCV000276674]|Loeys-Dietz syndrome [RCV000326934] Chr9:99153870 [GRCh38]
Chr9:101916152 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*1772A>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000353713]|Loeys-Dietz syndrome 1 [RCV000277166]|Loeys-Dietz syndrome [RCV000332270] Chr9:99151077 [GRCh38]
Chr9:101913359 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2081G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000311488]|Loeys-Dietz syndrome 1 [RCV000405483]|Loeys-Dietz syndrome [RCV000366208] Chr9:99151386 [GRCh38]
Chr9:101913668 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*69A>G single nucleotide variant Ehlers-Danlos syndrome [RCV002278626]|Familial thoracic aortic aneurysm and aortic dissection [RCV000312076]|Loeys-Dietz syndrome 1 [RCV000406058]|Loeys-Dietz syndrome [RCV000366670]|not provided [RCV000860787]|not specified [RCV003488572] Chr9:99149374 [GRCh38]
Chr9:101911656 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.*1515G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000294445]|Loeys-Dietz syndrome 1 [RCV000334227]|Loeys-Dietz syndrome [RCV000388762] Chr9:99150820 [GRCh38]
Chr9:101913102 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*3225G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000373136]|Loeys-Dietz syndrome 1 [RCV000295059]|Loeys-Dietz syndrome [RCV000315920] Chr9:99152530 [GRCh38]
Chr9:101914812 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.*1710G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000357205]|Loeys-Dietz syndrome 1 [RCV000298860]|Loeys-Dietz syndrome [RCV000262309]|not provided [RCV002292544] Chr9:99151015 [GRCh38]
Chr9:101913297 [GRCh37]
Chr9:9q22.33		 benign|likely benign
NM_004612.4(TGFBR1):c.*311G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000262495]|Loeys-Dietz syndrome 1 [RCV000319949]|Loeys-Dietz syndrome [RCV000355114] Chr9:99149616 [GRCh38]
Chr9:101911898 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*4202A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000353126]|Loeys-Dietz syndrome 1 [RCV000262889]|Loeys-Dietz syndrome [RCV000317121] Chr9:99153507 [GRCh38]
Chr9:101915789 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*2095T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000279344]|Loeys-Dietz syndrome 1 [RCV000334282]|Loeys-Dietz syndrome [RCV000392296] Chr9:99151400 [GRCh38]
Chr9:101913682 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2100T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000295576]|Loeys-Dietz syndrome 1 [RCV000392302]|Loeys-Dietz syndrome [RCV000350446]|not provided [RCV003422363] Chr9:99151405 [GRCh38]
Chr9:101913687 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.479A>G (p.Asn160Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000296046]|Loeys-Dietz syndrome 1 [RCV000391342]|Loeys-Dietz syndrome [RCV000334642]|not provided [RCV000788783] Chr9:99132644 [GRCh38]
Chr9:101894926 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*4793A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000314913]|Loeys-Dietz syndrome 1 [RCV000369563]|Loeys-Dietz syndrome [RCV000407273] Chr9:99154098 [GRCh38]
Chr9:101916380 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*3192T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000355677]|Loeys-Dietz syndrome 1 [RCV000263073]|Loeys-Dietz syndrome [RCV000321844] Chr9:99152497 [GRCh38]
Chr9:101914779 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*2103_*2104insG insertion Familial thoracic aortic aneurysm and aortic dissection [RCV000263409]|Loeys-Dietz syndrome 1 [RCV000358115]|Loeys-Dietz syndrome [RCV000322124] Chr9:99151408..99151409 [GRCh38]
Chr9:101913690..101913691 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.*3798G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000321508]|Loeys-Dietz syndrome 1 [RCV000263967]|Loeys-Dietz syndrome [RCV000373868] Chr9:99153103 [GRCh38]
Chr9:101915385 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*789G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000359833]|Loeys-Dietz syndrome 1 [RCV000321467]|Loeys-Dietz syndrome [RCV000263999] Chr9:99150094 [GRCh38]
Chr9:101912376 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*4728G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000279422]|Loeys-Dietz syndrome 1 [RCV000334424]|Loeys-Dietz syndrome [RCV000400353] Chr9:99154033 [GRCh38]
Chr9:101916315 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*2833G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000351345]|Loeys-Dietz syndrome 1 [RCV000279964]|Loeys-Dietz syndrome [RCV000398689] Chr9:99152138 [GRCh38]
Chr9:101914420 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2005T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000297289]|Loeys-Dietz syndrome 1 [RCV000407913]|Loeys-Dietz syndrome [RCV000369806] Chr9:99151310 [GRCh38]
Chr9:101913592 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*3704A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000407065]|Loeys-Dietz syndrome 1 [RCV000315362]|Loeys-Dietz syndrome [RCV000367680] Chr9:99153009 [GRCh38]
Chr9:101915291 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*1428G>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000264036]|Loeys-Dietz syndrome 1 [RCV000308389]|Loeys-Dietz syndrome [RCV000365386] Chr9:99150733 [GRCh38]
Chr9:101913015 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*2800G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000280999]|Loeys-Dietz syndrome 1 [RCV000372077]|Loeys-Dietz syndrome [RCV000319749]|not provided [RCV001709638] Chr9:99152105 [GRCh38]
Chr9:101914387 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.*3830T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000334660]|Loeys-Dietz syndrome 1 [RCV000372897]|Loeys-Dietz syndrome [RCV000281999] Chr9:99153135 [GRCh38]
Chr9:101915417 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*756C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000403738]|Loeys-Dietz syndrome 1 [RCV000356807]|Loeys-Dietz syndrome [RCV000299592] Chr9:99150061 [GRCh38]
Chr9:101912343 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*4147G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000361305]|Loeys-Dietz syndrome 1 [RCV000266585]|Loeys-Dietz syndrome [RCV000301944] Chr9:99153452 [GRCh38]
Chr9:101915734 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2103T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000361934]|Loeys-Dietz syndrome 1 [RCV000266960]|Loeys-Dietz syndrome [RCV000307304] Chr9:99151408 [GRCh38]
Chr9:101913690 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2092G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000282925]|Loeys-Dietz syndrome 1 [RCV000319205]|Loeys-Dietz syndrome [RCV000373851] Chr9:99151397 [GRCh38]
Chr9:101913679 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2685T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000379196]|Loeys-Dietz syndrome 1 [RCV000340297]|Loeys-Dietz syndrome [RCV000282997]|not provided [RCV003311794] Chr9:99151990 [GRCh38]
Chr9:101914272 [GRCh37]
Chr9:9q22.33		 likely benign|uncertain significance
NM_004612.4(TGFBR1):c.*4623G>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000283006]|Loeys-Dietz syndrome 1 [RCV000342405]|Loeys-Dietz syndrome [RCV000377485]|not provided [RCV002512098] Chr9:99153928 [GRCh38]
Chr9:101916210 [GRCh37]
Chr9:9q22.33		 likely benign|uncertain significance
NM_004612.4(TGFBR1):c.*2703G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000300564]|Loeys-Dietz syndrome 1 [RCV000334342]|Loeys-Dietz syndrome [RCV000407193]|not provided [RCV001840497] Chr9:99152008 [GRCh38]
Chr9:101914290 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*3314A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000300627]|Loeys-Dietz syndrome 1 [RCV000392866]|Loeys-Dietz syndrome [RCV000358984] Chr9:99152619 [GRCh38]
Chr9:101914901 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*4493G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000300966]|Loeys-Dietz syndrome 1 [RCV000355192]|Loeys-Dietz syndrome [RCV000393557] Chr9:99153798 [GRCh38]
Chr9:101916080 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*1959G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000407908]|Loeys-Dietz syndrome 1 [RCV000336931]|Loeys-Dietz syndrome [RCV000281865] Chr9:99151264 [GRCh38]
Chr9:101913546 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*1431G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000260412]|Loeys-Dietz syndrome 1 [RCV000319166]|Loeys-Dietz syndrome [RCV000373793] Chr9:99150736 [GRCh38]
Chr9:101913018 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*3430del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV000384031]|Loeys-Dietz syndrome 1 [RCV000325836]|Loeys-Dietz syndrome [RCV000273134] Chr9:99152734 [GRCh38]
Chr9:101915016 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*2634TCT[1] microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV000385990]|Loeys-Dietz syndrome 1 [RCV000272864]|Loeys-Dietz syndrome [RCV000327948] Chr9:99151939..99151941 [GRCh38]
Chr9:101914221..101914223 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*1787T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000328530]|Loeys-Dietz syndrome 1 [RCV000273507]|Loeys-Dietz syndrome [RCV000386832] Chr9:99151092 [GRCh38]
Chr9:101913374 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*3056C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000303907]|Loeys-Dietz syndrome 1 [RCV000361063]|Loeys-Dietz syndrome [RCV000264037] Chr9:99152361 [GRCh38]
Chr9:101914643 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*3716T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000309968]|Loeys-Dietz syndrome 1 [RCV000362378]|Loeys-Dietz syndrome [RCV000275410] Chr9:99153021 [GRCh38]
Chr9:101915303 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2768T>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000366717]|Loeys-Dietz syndrome 1 [RCV000309630]|Loeys-Dietz syndrome [RCV000275518] Chr9:99152073 [GRCh38]
Chr9:101914355 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.191A>G (p.Lys64Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002411148]|Loeys-Dietz syndrome 1 [RCV001166107]|not provided [RCV000320806] Chr9:99128948 [GRCh38]
Chr9:101891230 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2547A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000331431]|Loeys-Dietz syndrome 1 [RCV000276155]|Loeys-Dietz syndrome [RCV000370703] Chr9:99151852 [GRCh38]
Chr9:101914134 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*4088G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000306872]|Loeys-Dietz syndrome 1 [RCV000363908]|Loeys-Dietz syndrome [RCV000265582] Chr9:99153393 [GRCh38]
Chr9:101915675 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.666A>G (p.Gly222=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000328817]|Loeys-Dietz syndrome 1 [RCV000385654]|Loeys-Dietz syndrome [RCV000276413] Chr9:99137950 [GRCh38]
Chr9:101900232 [GRCh37]
Chr9:9q22.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.*309C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000316659]|Loeys-Dietz syndrome 1 [RCV000278000]|Loeys-Dietz syndrome [RCV000370231] Chr9:99149614 [GRCh38]
Chr9:101911896 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.97+15GGCG[4] microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV000324593]|Loeys-Dietz syndrome 1 [RCV000381524]|Loeys-Dietz syndrome [RCV000267060]|not provided [RCV002512097] Chr9:99105316..99105317 [GRCh38]
Chr9:101867598..101867599 [GRCh37]
Chr9:9q22.33		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.*2104_*2105insGT insertion Familial thoracic aortic aneurysm and aortic dissection [RCV000318717]|Loeys-Dietz syndrome 1 [RCV000373315]|Loeys-Dietz syndrome [RCV000278866] Chr9:99151408..99151409 [GRCh38]
Chr9:101913690..101913691 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*1250G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000392291]|Loeys-Dietz syndrome 1 [RCV000336062]|Loeys-Dietz syndrome [RCV000278686] Chr9:99150555 [GRCh38]
Chr9:101912837 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.828C>G (p.Leu276=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000279811]|Loeys-Dietz syndrome 1 [RCV000372228]|Loeys-Dietz syndrome [RCV000333888] Chr9:99142558 [GRCh38]
Chr9:101904840 [GRCh37]
Chr9:9q22.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.*2105dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV000378164]|Loeys-Dietz syndrome 1 [RCV000323483]|Loeys-Dietz syndrome [RCV000268288] Chr9:99151397..99151398 [GRCh38]
Chr9:101913679..101913680 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*1368C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000304716]|Loeys-Dietz syndrome 1 [RCV000269568]|Loeys-Dietz syndrome [RCV000361866] Chr9:99150673 [GRCh38]
Chr9:101912955 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1425G>T (p.Trp475Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001188451]|not provided [RCV000490239] Chr9:99149218 [GRCh38]
Chr9:101911500 [GRCh37]
Chr9:9q22.33		 likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.1387-23T>G single nucleotide variant Multiple self-healing squamous epithelioma [RCV003316911] Chr9:99149157 [GRCh38]
Chr9:101911439 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.-43C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000405336]|Loeys-Dietz syndrome 1 [RCV000314350]|Loeys-Dietz syndrome [RCV000371283] Chr9:99105163 [GRCh38]
Chr9:101867445 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*709C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000353199]|Loeys-Dietz syndrome 1 [RCV000314732]|Loeys-Dietz syndrome [RCV000408141] Chr9:99150014 [GRCh38]
Chr9:101912296 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2106GTT[2] microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV000292369]|Loeys-Dietz syndrome 1 [RCV000333924]|Loeys-Dietz syndrome [RCV000386748]|not provided [RCV003430954] Chr9:99151409..99151411 [GRCh38]
Chr9:101913691..101913693 [GRCh37]
Chr9:9q22.33		 likely benign|uncertain significance
NM_004612.4(TGFBR1):c.*2880C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000349670]|Loeys-Dietz syndrome 1 [RCV000392262]|Loeys-Dietz syndrome [RCV000293013] Chr9:99152185 [GRCh38]
Chr9:101914467 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*1223A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000293706]|Loeys-Dietz syndrome 1 [RCV000392309]|Loeys-Dietz syndrome [RCV000350975] Chr9:99150528 [GRCh38]
Chr9:101912810 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*1687A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000345707]|Loeys-Dietz syndrome 1 [RCV000391605]|Loeys-Dietz syndrome [RCV000305767] Chr9:99150992 [GRCh38]
Chr9:101913274 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*3881G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000294830]|Loeys-Dietz syndrome 1 [RCV000399642]|Loeys-Dietz syndrome [RCV000352243] Chr9:99153186 [GRCh38]
Chr9:101915468 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*4467C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000348088]|Loeys-Dietz syndrome 1 [RCV000284811]|Loeys-Dietz syndrome [RCV000401399] Chr9:99153772 [GRCh38]
Chr9:101916054 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*1924G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000340626]|Loeys-Dietz syndrome 1 [RCV000285558]|Loeys-Dietz syndrome [RCV000380056] Chr9:99151229 [GRCh38]
Chr9:101913511 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*3432G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000382736]|Loeys-Dietz syndrome 1 [RCV000286220]|Loeys-Dietz syndrome [RCV000343533] Chr9:99152737 [GRCh38]
Chr9:101915019 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1255+1G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000605493] Chr9:99146610 [GRCh38]
Chr9:101908892 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.*3567G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000400688]|Loeys-Dietz syndrome 1 [RCV000297519]|Loeys-Dietz syndrome [RCV000336133] Chr9:99152872 [GRCh38]
Chr9:101915154 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1443T>A (p.Ala481=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000309594]|Loeys-Dietz syndrome 1 [RCV000402490]|Loeys-Dietz syndrome [RCV000344559] Chr9:99149236 [GRCh38]
Chr9:101911518 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.734A>C (p.Glu245Ala) single nucleotide variant Loeys-Dietz syndrome 1 [RCV000624840] Chr9:99138018 [GRCh38]
Chr9:101900300 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2980G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000309899]|Loeys-Dietz syndrome 1 [RCV000362308]|Loeys-Dietz syndrome [RCV000392244] Chr9:99152285 [GRCh38]
Chr9:101914567 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*512_*516del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV000345326]|Loeys-Dietz syndrome 1 [RCV000380283]|Loeys-Dietz syndrome [RCV000288063] Chr9:99149813..99149817 [GRCh38]
Chr9:101912095..101912099 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.-13T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000356175]|Loeys-Dietz syndrome 1 [RCV000298980]|Loeys-Dietz syndrome 1 [RCV002481248]|Loeys-Dietz syndrome [RCV000403385]|not provided [RCV000589811] Chr9:99105193 [GRCh38]
Chr9:101867475 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2101_*2102insGT insertion Familial thoracic aortic aneurysm and aortic dissection [RCV000310868]|Loeys-Dietz syndrome 1 [RCV000403615]|Loeys-Dietz syndrome [RCV000365303] Chr9:99151405..99151406 [GRCh38]
Chr9:101913687..101913688 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1135A>G (p.Met379Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000553671] Chr9:99146489 [GRCh38]
Chr9:101908771 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.230T>G (p.Leu77Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315262] Chr9:99128987 [GRCh38]
Chr9:101891269 [GRCh37]
Chr9:9q22.33		 pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.*4804dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV000401205]|Loeys-Dietz syndrome 1 [RCV000299616]|Loeys-Dietz syndrome [RCV000368214]|not provided [RCV002225607] Chr9:99154098..99154099 [GRCh38]
Chr9:101916380..101916381 [GRCh37]
Chr9:9q22.33		 likely benign|uncertain significance
NM_004612.4(TGFBR1):c.490C>T (p.Pro164Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000338312]|Loeys-Dietz syndrome 1 [RCV000405232]|Loeys-Dietz syndrome [RCV000299669] Chr9:99132655 [GRCh38]
Chr9:101894937 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1219G>T (p.Val407Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315259] Chr9:99146573 [GRCh38]
Chr9:101908855 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2279T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000392880]|Loeys-Dietz syndrome 1 [RCV000340553]|Loeys-Dietz syndrome [RCV000300892] Chr9:99151584 [GRCh38]
Chr9:101913866 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*4055G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000407909]|Loeys-Dietz syndrome 1 [RCV000346397]|Loeys-Dietz syndrome [RCV000312638] Chr9:99153360 [GRCh38]
Chr9:101915642 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2713G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000407210]|Loeys-Dietz syndrome 1 [RCV000313361]|Loeys-Dietz syndrome [RCV000370320] Chr9:99152018 [GRCh38]
Chr9:101914300 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*1704G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000302169]|Loeys-Dietz syndrome 1 [RCV000341918]|Loeys-Dietz syndrome [RCV000406312] Chr9:99151009 [GRCh38]
Chr9:101913291 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.809A>G (p.Asn270Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001860408]|not provided [RCV003231541] Chr9:99142539 [GRCh38]
Chr9:101904821 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.897G>A (p.Val299=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000772501]|not provided [RCV000592197] Chr9:99142627 [GRCh38]
Chr9:101904909 [GRCh37]
Chr9:9q22.33		 likely benign|uncertain significance
NM_004612.4(TGFBR1):c.927G>A (p.Thr309=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001189421]|not specified [RCV000601656] Chr9:99142657 [GRCh38]
Chr9:101904939 [GRCh37]
Chr9:9q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_004612.4(TGFBR1):c.1058G>T (p.Gly353Val) single nucleotide variant Loeys-Dietz syndrome [RCV000584165] Chr9:99144816 [GRCh38]
Chr9:101907098 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.1117G>A (p.Val373Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000654812]|not provided [RCV000588447] Chr9:99144875 [GRCh38]
Chr9:101907157 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.873_876del (p.Asp290_Tyr291insTer) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001058970]|not provided [RCV000599086] Chr9:99142600..99142603 [GRCh38]
Chr9:101904882..101904885 [GRCh37]
Chr9:9q22.33		 pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.52GCG[4] (p.Ala22_Ala26del) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV002358649]|not provided [RCV000588865] Chr9:99105256..99105270 [GRCh38]
Chr9:101867538..101867552 [GRCh37]
Chr9:9q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.973+19C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002061982]|not provided [RCV000587431] Chr9:99142722 [GRCh38]
Chr9:101905004 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.930G>A (p.Ala310=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001189483]|not specified [RCV000590293] Chr9:99142660 [GRCh38]
Chr9:101904942 [GRCh37]
Chr9:9q22.33		 likely benign|uncertain significance
NM_004612.4(TGFBR1):c.974-2A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000614164] Chr9:99144730 [GRCh38]
Chr9:101907012 [GRCh37]
Chr9:9q22.33		 pathogenic|likely pathogenic
NM_004612.4(TGFBR1):c.52GCG[11] (p.Ala25_Ala26dup) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV000704697]|not provided [RCV000590468] Chr9:99105255..99105256 [GRCh38]
Chr9:101867537..101867538 [GRCh37]
Chr9:9q22.33		 conflicting interpretations of pathogenicity|uncertain significance
Single allele duplication not specified [RCV000591236] Chr9:101867563..101867565 [GRCh37]
Chr9:9q22.33		 likely benign
NM_001130916.2(TGFBR1):c.51_59delGGCGGCGGC (p.Ala24_Ala26del) deletion Loeys-Dietz syndrome 1 [RCV000415726] Chr9:99105256..99105264 [GRCh38]
Chr9:101867538..101867546 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.502C>T (p.Arg168Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001865304]|not provided [RCV000415841] Chr9:99132667 [GRCh38]
Chr9:101894949 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.704C>T (p.Ser235Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000559671] Chr9:99137988 [GRCh38]
Chr9:101900270 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.345A>G (p.Val115=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002521473]|not provided [RCV000416155] Chr9:99132510 [GRCh38]
Chr9:101894792 [GRCh37]
Chr9:9q22.33		 likely benign|uncertain significance
NM_004612.4(TGFBR1):c.733G>T (p.Glu245Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000538139] Chr9:99138017 [GRCh38]
Chr9:101900299 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.1415G>A (p.Arg472Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000542426] Chr9:99149208 [GRCh38]
Chr9:101911490 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.575G>A (p.Gly192Asp) single nucleotide variant Ehlers-Danlos syndrome, classic type [RCV000766263]|not provided [RCV002473128] Chr9:99137859 [GRCh38]
Chr9:101900141 [GRCh37]
Chr9:9q22.33		 likely pathogenic|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
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
NM_004612.4(TGFBR1):c.35T>C (p.Leu12Pro) single nucleotide variant not provided [RCV000418150] Chr9:99105240 [GRCh38]
Chr9:101867522 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.32G>A (p.Arg11Gln) single nucleotide variant not provided [RCV000418390]|not specified [RCV003987535] Chr9:99105237 [GRCh38]
Chr9:101867519 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.-49C>G single nucleotide variant not provided [RCV001720053] Chr9:99105157 [GRCh38]
Chr9:101867439 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1460G>T (p.Arg487Leu) single nucleotide variant not provided [RCV000417662] Chr9:99149253 [GRCh38]
Chr9:101911535 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.249G>A (p.Pro83=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001176884]|not specified [RCV000424775] Chr9:99129006 [GRCh38]
Chr9:101891288 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.618G>T (p.Val206=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182762]|not specified [RCV000428603] Chr9:99137902 [GRCh38]
Chr9:101900184 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.558G>A (p.Thr186=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001177686]|not specified [RCV000432321] Chr9:99132723 [GRCh38]
Chr9:101895005 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.733G>A (p.Glu245Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000804845]|not provided [RCV000436157] Chr9:99138017 [GRCh38]
Chr9:101900299 [GRCh37]
Chr9:9q22.33		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.419C>T (p.Ser140Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001865390]|not provided [RCV000419910] Chr9:99132584 [GRCh38]
Chr9:101894866 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.135T>C (p.Asn45=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524788]|not specified [RCV000430012] Chr9:99128892 [GRCh38]
Chr9:101891174 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.574+18C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002061542]|not specified [RCV000444121] Chr9:99132757 [GRCh38]
Chr9:101895039 [GRCh37]
Chr9:9q22.33		 benign|likely benign
NM_004612.4(TGFBR1):c.-4G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313044]|not provided [RCV000756776] Chr9:99105202 [GRCh38]
Chr9:101867484 [GRCh37]
Chr9:9q22.33		 likely benign|uncertain significance
NM_004612.4(TGFBR1):c.582A>G (p.Pro194=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000654828]|Loeys-Dietz syndrome 1 [RCV001166595]|not specified [RCV000426790] Chr9:99137866 [GRCh38]
Chr9:101900148 [GRCh37]
Chr9:9q22.33		 likely benign|uncertain significance
NM_004612.4(TGFBR1):c.723G>A (p.Ser241=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182757]|not specified [RCV000426857] Chr9:99138007 [GRCh38]
Chr9:101900289 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.204C>T (p.Asn68=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001396057]|not specified [RCV000444795] Chr9:99128961 [GRCh38]
Chr9:101891243 [GRCh37]
Chr9:9q22.33		 likely 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
NM_004612.4(TGFBR1):c.820A>C (p.Thr274Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000466576] Chr9:99142550 [GRCh38]
Chr9:101904832 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1104T>G (p.Ala368=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000470488] Chr9:99144862 [GRCh38]
Chr9:101907144 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.679G>A (p.Glu227Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000471274]|not provided [RCV000786408] Chr9:99137963 [GRCh38]
Chr9:101900245 [GRCh37]
Chr9:9q22.33		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.796G>A (p.Asp266Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000456585] Chr9:99138080 [GRCh38]
Chr9:101900362 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.680A>T (p.Glu227Val) single nucleotide variant not provided [RCV000483348] Chr9:99137964 [GRCh38]
Chr9:101900246 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.848A>C (p.His283Pro) single nucleotide variant not provided [RCV000485221] Chr9:99142578 [GRCh38]
Chr9:101904860 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.944A>G (p.His315Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000464356] Chr9:99142674 [GRCh38]
Chr9:101904956 [GRCh37]
Chr9:9q22.33		 pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.52GCG[12] (p.Ala24_Ala26dup) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV000465262]|not provided [RCV001704558] Chr9:99105255..99105256 [GRCh38]
Chr9:101867537..101867538 [GRCh37]
Chr9:9q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.24del (p.Arg9fs) deletion not specified [RCV000455214] Chr9:99105229 [GRCh38]
Chr9:101867511 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.469C>T (p.Arg157Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000461373]|Multiple self-healing squamous epithelioma [RCV002470860] Chr9:99132634 [GRCh38]
Chr9:101894916 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.1278G>T (p.Leu426=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000472509]|not specified [RCV000601105] Chr9:99147676 [GRCh38]
Chr9:101909958 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1058_1059insCAATA (p.Leu354fs) insertion not specified [RCV000455855] Chr9:99144816..99144817 [GRCh38]
Chr9:101907098..101907099 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.810T>C (p.Asn270=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000462278]|TGFBR1-related condition [RCV003942542]|not provided [RCV001562912]|not specified [RCV003235235] Chr9:99142540 [GRCh38]
Chr9:101904822 [GRCh37]
Chr9:9q22.33		 benign|likely benign
NM_004612.4(TGFBR1):c.500A>C (p.Asp167Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000469878] Chr9:99132665 [GRCh38]
Chr9:101894947 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.700T>C (p.Phe234Leu) single nucleotide variant Familial aortopathy [RCV001174650]|Familial thoracic aortic aneurysm and aortic dissection [RCV000473430] Chr9:99137984 [GRCh38]
Chr9:101900266 [GRCh37]
Chr9:9q22.33		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 9q22.33(chr9:100625192-102129138)x1 copy number loss See cases [RCV000510500] Chr9:100625192..102129138 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.706T>G (p.Ser236Ala) single nucleotide variant not provided [RCV000497624] Chr9:99137990 [GRCh38]
Chr9:101900272 [GRCh37]
Chr9:9q22.33		 uncertain significance
GRCh37/hg19 9q22.32-31.1(chr9:97553176-102919383)x3 copy number gain See cases [RCV000510672] Chr9:97553176..102919383 [GRCh37]
Chr9:9q22.32-31.1		 likely pathogenic
NM_004612.3(TGFBR1):c.51_59delGGCGGCGGC (p.Ala24_Ala26del) deletion not specified [RCV000508513] Chr9:99105256..99105264 [GRCh38]
Chr9:101867538..101867546 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.1307C>T (p.Pro436Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001061635]|not provided [RCV000492978] Chr9:99147705 [GRCh38]
Chr9:101909987 [GRCh37]
Chr9:9q22.33		 likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.424A>G (p.Met142Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315942] Chr9:99132589 [GRCh38]
Chr9:101894871 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.741G>A (p.Glu247=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524891]|not specified [RCV000603926] Chr9:99138025 [GRCh38]
Chr9:101900307 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.290C>A (p.Thr97Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315944] Chr9:99129047 [GRCh38]
Chr9:101891329 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.848A>G (p.His283Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000540821]|Loeys-Dietz syndrome 1 [RCV000680124] Chr9:99142578 [GRCh38]
Chr9:101904860 [GRCh37]
Chr9:9q22.33		 pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.1059A>G (p.Gly353=) single nucleotide variant not specified [RCV000603221] Chr9:99144817 [GRCh38]
Chr9:101907099 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.367C>T (p.Pro123Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315261] Chr9:99132532 [GRCh38]
Chr9:101894814 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1387-16T>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002063316]|not specified [RCV000601719] Chr9:99149164 [GRCh38]
Chr9:101911446 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.889G>A (p.Val297Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000555698]|Loeys-Dietz syndrome 1 [RCV002483508] Chr9:99142619 [GRCh38]
Chr9:101904901 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.767A>G (p.His256Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000536616] Chr9:99138051 [GRCh38]
Chr9:101900333 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.633_635dup (p.Gly212dup) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002315260] Chr9:99137916..99137917 [GRCh38]
Chr9:101900198..101900199 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.1216T>A (p.Leu406Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000660316] Chr9:99146570 [GRCh38]
Chr9:101908852 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.98C>T (p.Ala33Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315945] Chr9:99128855 [GRCh38]
Chr9:101891137 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.582A>T (p.Pro194=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000534488] Chr9:99137866 [GRCh38]
Chr9:101900148 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1121G>A (p.Gly374Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000538755]|not provided [RCV001578258] Chr9:99144879 [GRCh38]
Chr9:101907161 [GRCh37]
Chr9:9q22.33		 pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.52GCG[5] (p.Ala23_Ala26del) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV001069917]|TGFBR1-related condition [RCV003392452]|not provided [RCV001719118] Chr9:99105256..99105267 [GRCh38]
Chr9:101867538..101867549 [GRCh37]
Chr9:9q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.99G>A (p.Ala33=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000539367] Chr9:99128856 [GRCh38]
Chr9:101891138 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1141C>T (p.Pro381Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000654791]|not specified [RCV000780772] Chr9:99146495 [GRCh38]
Chr9:101908777 [GRCh37]
Chr9:9q22.33		 likely benign|uncertain significance
NM_004612.4(TGFBR1):c.52GCG[13] (p.Ala23_Ala26dup) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV000654792]|Loeys-Dietz syndrome 1 [RCV002485481] Chr9:99105255..99105256 [GRCh38]
Chr9:101867537..101867538 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1322T>G (p.Met441Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000654798] Chr9:99147720 [GRCh38]
Chr9:101910002 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.304A>G (p.Asn102Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000654800] Chr9:99129061 [GRCh38]
Chr9:101891343 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1465A>G (p.Lys489Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000654803]|not specified [RCV003330870] Chr9:99149258 [GRCh38]
Chr9:101911540 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.220G>A (p.Glu74Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000654807]|not provided [RCV000999188] Chr9:99128977 [GRCh38]
Chr9:101891259 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.87G>C (p.Pro29=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000654825] Chr9:99105292 [GRCh38]
Chr9:101867574 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1311A>T (p.Ser437=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000654826] Chr9:99147709 [GRCh38]
Chr9:101909991 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1485C>T (p.Leu495=) single nucleotide variant not specified [RCV000614446] Chr9:99149278 [GRCh38]
Chr9:101911560 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro) single nucleotide variant Loeys-Dietz syndrome 1 [RCV000623721] Chr9:99144819 [GRCh38]
Chr9:101907101 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.563G>T (p.Gly188Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315943] Chr9:99132728 [GRCh38]
Chr9:101895010 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.959T>C (p.Ile320Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315258] Chr9:99142689 [GRCh38]
Chr9:101904971 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1009A>G (p.Lys337Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315257] Chr9:99144767 [GRCh38]
Chr9:101907049 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1033G>A (p.Gly345Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001526112]|not provided [RCV002223232] Chr9:99144791 [GRCh38]
Chr9:101907073 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.929C>T (p.Ala310Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770354]|Loeys-Dietz syndrome 1 [RCV002491331]|TGFBR1-related condition [RCV003411466] Chr9:99142659 [GRCh38]
Chr9:101904941 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.62C>T (p.Ala21Val) single nucleotide variant Cardiovascular phenotype [RCV000618570]|not provided [RCV000513181] Chr9:99105267 [GRCh38]
Chr9:101867549 [GRCh37]
Chr9:9q22.33		 uncertain significance
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
NM_004612.4(TGFBR1):c.766dup (p.His256fs) duplication not provided [RCV000627481] Chr9:99138049..99138050 [GRCh38]
Chr9:101900331..101900332 [GRCh37]
Chr9:9q22.33		 uncertain significance
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_004612.4(TGFBR1):c.1277T>G (p.Leu426Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000660317] Chr9:99147675 [GRCh38]
Chr9:101909957 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1338_1339del (p.Cys446_Glu447delinsTer) microsatellite not provided [RCV000658471] Chr9:99147734..99147735 [GRCh38]
Chr9:101910016..101910017 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.98-4C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003150326]|not provided [RCV000659117] Chr9:99128851 [GRCh38]
Chr9:101891133 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000766264] Chr9:99149250 [GRCh38]
Chr9:101911532 [GRCh37]
Chr9:9q22.33		 pathogenic|likely pathogenic
NM_004612.4(TGFBR1):c.860C>A (p.Ser287Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000698286] Chr9:99142590 [GRCh38]
Chr9:101904872 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.328G>A (p.Glu110Lys) single nucleotide variant Connective tissue disorder [RCV000680611] Chr9:99129085 [GRCh38]
Chr9:101891367 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.725G>T (p.Trp242Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000701356] Chr9:99138009 [GRCh38]
Chr9:101900291 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.923C>T (p.Ser308Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000694696] Chr9:99142653 [GRCh38]
Chr9:101904935 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1346A>G (p.Lys449Arg) single nucleotide variant Aortic aneurysm, familial thoracic 6 [RCV000845496]|Familial thoracic aortic aneurysm and aortic dissection [RCV000702735] Chr9:99147744 [GRCh38]
Chr9:101910026 [GRCh37]
Chr9:9q22.33		 uncertain significance
NC_000009.12:g.(?_99105186)_(99221914_?)del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV000708065] Chr9:99105186..99221914 [GRCh38]
Chr9:101867468..101984196 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.187G>A (p.Asp63Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000685163] Chr9:99128944 [GRCh38]
Chr9:101891226 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1438G>C (p.Ala480Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000706529] Chr9:99149231 [GRCh38]
Chr9:101911513 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.731G>C (p.Arg244Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000694802] Chr9:99138015 [GRCh38]
Chr9:101900297 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.805G>A (p.Asp269Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000704015] Chr9:99138089 [GRCh38]
Chr9:101900371 [GRCh37]
Chr9:9q22.33		 uncertain significance
NC_000009.12:g.(?_99137839)_(99138109_?)del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV000707956] Chr9:99137839..99138109 [GRCh38]
Chr9:101900121..101900391 [GRCh37]
Chr9:9q22.33		 likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.575-5T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000706000] Chr9:99137854 [GRCh38]
Chr9:101900136 [GRCh37]
Chr9:9q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.344-275A>G single nucleotide variant not provided [RCV001567779] Chr9:99132234 [GRCh38]
Chr9:101894516 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1131-232C>G single nucleotide variant not provided [RCV001572324] Chr9:99146253 [GRCh38]
Chr9:101908535 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.344-71G>A single nucleotide variant not provided [RCV001567878] Chr9:99132438 [GRCh38]
Chr9:101894720 [GRCh37]
Chr9:9q22.33		 benign|likely benign
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
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 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
NM_004612.4(TGFBR1):c.344-31G>A single nucleotide variant not provided [RCV001812953] Chr9:99132478 [GRCh38]
Chr9:101894760 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.98-157A>G single nucleotide variant not provided [RCV001693260] Chr9:99128698 [GRCh38]
Chr9:101890980 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.8C>T (p.Ala3Val) single nucleotide variant Marfan syndrome [RCV000761570] Chr9:99105213 [GRCh38]
Chr9:101867495 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1285T>C (p.Tyr429His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000802300]|Loeys-Dietz syndrome 1 [RCV002470973]|TGFBR1-related condition [RCV003928265]|not provided [RCV000762568] Chr9:99147683 [GRCh38]
Chr9:101909965 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1130+52C>T single nucleotide variant not provided [RCV001570322] Chr9:99144940 [GRCh38]
Chr9:101907222 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1130+1G>A single nucleotide variant not provided [RCV000788986] Chr9:99144889 [GRCh38]
Chr9:101907171 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.163T>C (p.Phe55Leu) single nucleotide variant not provided [RCV000999187] Chr9:99128920 [GRCh38]
Chr9:101891202 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1139C>G (p.Ala380Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002321044] Chr9:99146493 [GRCh38]
Chr9:101908775 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*4295C>T single nucleotide variant Loeys-Dietz syndrome 1 [RCV001166336] Chr9:99153600 [GRCh38]
Chr9:101915882 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.822T>G (p.Thr274=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001471086] Chr9:99142552 [GRCh38]
Chr9:101904834 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.408C>T (p.Phe136=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180695] Chr9:99132573 [GRCh38]
Chr9:101894855 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1218A>G (p.Leu406=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001491486] Chr9:99146572 [GRCh38]
Chr9:101908854 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.959T>A (p.Ile320Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001068851] Chr9:99142689 [GRCh38]
Chr9:101904971 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.710G>A (p.Arg237Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001064841] Chr9:99137994 [GRCh38]
Chr9:101900276 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.805+5G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001071395] Chr9:99138094 [GRCh38]
Chr9:101900376 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.503G>A (p.Arg168His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001873189]|not provided [RCV003328628]|not specified [RCV000780771] Chr9:99132668 [GRCh38]
Chr9:101894950 [GRCh37]
Chr9:9q22.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.1205A>G (p.Tyr402Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000774482]|not provided [RCV001579350] Chr9:99146559 [GRCh38]
Chr9:101908841 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.449A>G (p.Asn150Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000774495] Chr9:99132614 [GRCh38]
Chr9:101894896 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.-10C>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770350] Chr9:99105196 [GRCh38]
Chr9:101867478 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.933C>T (p.Ser311=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770355] Chr9:99142663 [GRCh38]
Chr9:101904945 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.718C>T (p.Arg240Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001869205]|not provided [RCV000788400] Chr9:99138002 [GRCh38]
Chr9:101900284 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.847_849del (p.His283del) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002442609]|Loeys-Dietz syndrome 1 [RCV001256790]|not provided [RCV000788819] Chr9:99142575..99142577 [GRCh38]
Chr9:101904857..101904859 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1256-8T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000774526] Chr9:99147646 [GRCh38]
Chr9:101909928 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.-3A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770351]|not provided [RCV001585695] Chr9:99105203 [GRCh38]
Chr9:101867485 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.423C>G (p.Leu141=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770352] Chr9:99132588 [GRCh38]
Chr9:101894870 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.678A>G (p.Gly226=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770353] Chr9:99137962 [GRCh38]
Chr9:101900244 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.1065A>C (p.Ala355=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770356]|Loeys-Dietz syndrome 1 [RCV001166596] Chr9:99144823 [GRCh38]
Chr9:101907105 [GRCh37]
Chr9:9q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.1180G>A (p.Glu394Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770357] Chr9:99146534 [GRCh38]
Chr9:101908816 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.705C>G (p.Ser235=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001410420]|not specified [RCV003396546] Chr9:99137989 [GRCh38]
Chr9:101900271 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.603T>C (p.Ile201=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001404684] Chr9:99137887 [GRCh38]
Chr9:101900169 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.735G>C (p.Glu245Asp) single nucleotide variant Loeys-Dietz syndrome 1 [RCV000984475] Chr9:99138019 [GRCh38]
Chr9:101900301 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.606G>A (p.Ala202=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001443504]|TGFBR1-related condition [RCV003938404]|not provided [RCV000878852] Chr9:99137890 [GRCh38]
Chr9:101900172 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.98-5T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000920240] Chr9:99128850 [GRCh38]
Chr9:101891132 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1322T>A (p.Met441Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770358] Chr9:99147720 [GRCh38]
Chr9:101910002 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.94A>G (p.Thr32Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000822583] Chr9:99105299 [GRCh38]
Chr9:101867581 [GRCh37]
Chr9:9q22.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.805+10A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001445361] Chr9:99138099 [GRCh38]
Chr9:101900381 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.466C>T (p.His156Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000801102] Chr9:99132631 [GRCh38]
Chr9:101894913 [GRCh37]
Chr9:9q22.33		 likely benign|uncertain significance
NM_004612.4(TGFBR1):c.574+50C>T single nucleotide variant not provided [RCV000833320] Chr9:99132789 [GRCh38]
Chr9:101895071 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1256-253A>G single nucleotide variant not provided [RCV000832242] Chr9:99147401 [GRCh38]
Chr9:101909683 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.149C>G (p.Thr50Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000803482] Chr9:99128906 [GRCh38]
Chr9:101891188 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.451C>T (p.Arg151Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000816693]|Loeys-Dietz syndrome 1 [RCV002478902]|not provided [RCV001171875] Chr9:99132616 [GRCh38]
Chr9:101894898 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000798557]|Isolated thoracic aortic aneurysm [RCV001374785]|Loeys-Dietz syndrome 1 [RCV001528128]|not provided [RCV000786409] Chr9:99137889 [GRCh38]
Chr9:101900171 [GRCh37]
Chr9:9q22.33		 pathogenic|likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.952A>T (p.Met318Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000822014] Chr9:99142682 [GRCh38]
Chr9:101904964 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1130+254G>A single nucleotide variant not provided [RCV000844179] Chr9:99145142 [GRCh38]
Chr9:101907424 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.1256-279A>G single nucleotide variant not provided [RCV000844185] Chr9:99147375 [GRCh38]
Chr9:101909657 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.1387-325A>G single nucleotide variant not provided [RCV000831035] Chr9:99148855 [GRCh38]
Chr9:101911137 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.574+197_574+202del microsatellite not provided [RCV000833888] Chr9:99132930..99132935 [GRCh38]
Chr9:101895212..101895217 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.973+142T>C single nucleotide variant not provided [RCV000833945] Chr9:99142845 [GRCh38]
Chr9:101905127 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.342T>A (p.Thr114=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003106064]|not provided [RCV000788270] Chr9:99129099 [GRCh38]
Chr9:101891381 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.623A>C (p.Gln208Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000803531] Chr9:99137907 [GRCh38]
Chr9:101900189 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.854A>G (p.His285Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001182313]|not provided [RCV000788801] Chr9:99142584 [GRCh38]
Chr9:101904866 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1446G>T (p.Arg482Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000807802]|Loeys-Dietz syndrome 1 [RCV001336712] Chr9:99149239 [GRCh38]
Chr9:101911521 [GRCh37]
Chr9:9q22.33		 likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.974-2A>C single nucleotide variant not provided [RCV000786407] Chr9:99144730 [GRCh38]
Chr9:101907012 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.97+27_97+41dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002067435]|not provided [RCV000827162] Chr9:99105325..99105326 [GRCh38]
Chr9:101867607..101867608 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*339G>T single nucleotide variant Loeys-Dietz syndrome 1 [RCV001169083] Chr9:99149644 [GRCh38]
Chr9:101911926 [GRCh37]
Chr9:9q22.33		 uncertain significance
NC_000009.12:g.(?_99105186)_(99105322_?)del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV000792156] Chr9:99105186..99105322 [GRCh38]
Chr9:101867468..101867604 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.*247T>C single nucleotide variant Loeys-Dietz syndrome 1 [RCV001168339] Chr9:99149552 [GRCh38]
Chr9:101911834 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*1159T>G single nucleotide variant Loeys-Dietz syndrome 1 [RCV001166663] Chr9:99150464 [GRCh38]
Chr9:101912746 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*408C>T single nucleotide variant Loeys-Dietz syndrome 1 [RCV001169085] Chr9:99149713 [GRCh38]
Chr9:101911995 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2943A>G single nucleotide variant Loeys-Dietz syndrome 1 [RCV001166278] Chr9:99152248 [GRCh38]
Chr9:101914530 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*1910A>G single nucleotide variant Loeys-Dietz syndrome 1 [RCV001169155] Chr9:99151215 [GRCh38]
Chr9:101913497 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.71C>T (p.Ala24Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000794608]|not provided [RCV001805861] Chr9:99105276 [GRCh38]
Chr9:101867558 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2112G>T single nucleotide variant Loeys-Dietz syndrome 1 [RCV001166738] Chr9:99151417 [GRCh38]
Chr9:101913699 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1392G>A (p.Leu464=) single nucleotide variant not provided [RCV000876863] Chr9:99149185 [GRCh38]
Chr9:101911467 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1459C>G (p.Arg487Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000819567] Chr9:99149252 [GRCh38]
Chr9:101911534 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1387-261C>T single nucleotide variant not provided [RCV000832579] Chr9:99148919 [GRCh38]
Chr9:101911201 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*4278C>T single nucleotide variant Loeys-Dietz syndrome 1 [RCV001166334] Chr9:99153583 [GRCh38]
Chr9:101915865 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*1240G>A single nucleotide variant Loeys-Dietz syndrome 1 [RCV001166664] Chr9:99150545 [GRCh38]
Chr9:101912827 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2101T>G single nucleotide variant Loeys-Dietz syndrome 1 [RCV001166737] Chr9:99151406 [GRCh38]
Chr9:101913688 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*3779C>T single nucleotide variant Loeys-Dietz syndrome 1 [RCV001168515] Chr9:99153084 [GRCh38]
Chr9:101915366 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.888A>G (p.Thr296=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179738] Chr9:99142618 [GRCh38]
Chr9:101904900 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.88G>C (p.Gly30Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001203193]|Loeys-Dietz syndrome 1 [RCV003142128] Chr9:99105293 [GRCh38]
Chr9:101867575 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1008A>G (p.Ser336=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001183118]|TGFBR1-related condition [RCV003908432] Chr9:99144766 [GRCh38]
Chr9:101907048 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1040G>T (p.Cys347Phe) single nucleotide variant not provided [RCV001171876] Chr9:99144798 [GRCh38]
Chr9:101907080 [GRCh37]
Chr9:9q22.33		 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_004612.4(TGFBR1):c.813T>C (p.Gly271=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001177130]|TGFBR1-related condition [RCV003963114]|not provided [RCV001555752] Chr9:99142543 [GRCh38]
Chr9:101904825 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.20C>G (p.Ala7Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001235373] Chr9:99105225 [GRCh38]
Chr9:101867507 [GRCh37]
Chr9:9q22.33		 benign|uncertain significance
NM_004612.4(TGFBR1):c.926C>T (p.Thr309Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001210233]|Loeys-Dietz syndrome 1 [RCV002484139] Chr9:99142656 [GRCh38]
Chr9:101904938 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1048G>T (p.Ala350Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001204337] Chr9:99144806 [GRCh38]
Chr9:101907088 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.508T>G (p.Phe170Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001242395] Chr9:99132673 [GRCh38]
Chr9:101894955 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys) single nucleotide variant Loeys-Dietz syndrome 1 [RCV000853281] Chr9:99138047 [GRCh38]
Chr9:101900329 [GRCh37]
Chr9:9q22.33		 likely pathogenic|conflicting interpretations of pathogenicity
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_004612.4(TGFBR1):c.720T>C (p.Arg240=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001185339]|not provided [RCV000999189] Chr9:99138004 [GRCh38]
Chr9:101900286 [GRCh37]
Chr9:9q22.33		 likely benign
GRCh37/hg19 9q22.33(chr9:101878960-101949121)x1 copy number loss not provided [RCV000845676] Chr9:101878960..101949121 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.1256-2A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001183683] Chr9:99147652 [GRCh38]
Chr9:101909934 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.702C>T (p.Phe234=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001176999] Chr9:99137986 [GRCh38]
Chr9:101900268 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*1343T>C single nucleotide variant Loeys-Dietz syndrome 1 [RCV001168399] Chr9:99150648 [GRCh38]
Chr9:101912930 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1131-8T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184913] Chr9:99146477 [GRCh38]
Chr9:101908759 [GRCh37]
Chr9:9q22.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.*2554A>T single nucleotide variant Loeys-Dietz syndrome 1 [RCV001168460] Chr9:99151859 [GRCh38]
Chr9:101914141 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.-31G>A single nucleotide variant Loeys-Dietz syndrome 1 [RCV001169012] Chr9:99105175 [GRCh38]
Chr9:101867457 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.341C>T (p.Thr114Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001185635] Chr9:99129098 [GRCh38]
Chr9:101891380 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*372T>C single nucleotide variant Loeys-Dietz syndrome 1 [RCV001169084] Chr9:99149677 [GRCh38]
Chr9:101911959 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*456G>T single nucleotide variant Loeys-Dietz syndrome 1 [RCV001169087] Chr9:99149761 [GRCh38]
Chr9:101912043 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*3839A>C single nucleotide variant Loeys-Dietz syndrome 1 [RCV001169258] Chr9:99153144 [GRCh38]
Chr9:101915426 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1142dup (p.Pro381_Glu382insTer) duplication not provided [RCV003234247] Chr9:99146492..99146493 [GRCh38]
Chr9:101908774..101908775 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1130+314T>G single nucleotide variant not provided [RCV001550600] Chr9:99145202 [GRCh38]
Chr9:101907484 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.574+251C>T single nucleotide variant not provided [RCV001547854] Chr9:99132990 [GRCh38]
Chr9:101895272 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1131-202C>T single nucleotide variant not provided [RCV001562469] Chr9:99146283 [GRCh38]
Chr9:101908565 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.-33C>T single nucleotide variant not provided [RCV001595682] Chr9:99105173 [GRCh38]
Chr9:101867455 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.*4804del deletion not provided [RCV001653129] Chr9:99154099 [GRCh38]
Chr9:101916381 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.12G>A (p.Ala4=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002568216]|not specified [RCV001532900] Chr9:99105217 [GRCh38]
Chr9:101867499 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.572C>T (p.Ser191Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003293651] Chr9:99132737 [GRCh38]
Chr9:101895019 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1256-9C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001485238] Chr9:99147645 [GRCh38]
Chr9:101909927 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.98-6T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000896547] Chr9:99128849 [GRCh38]
Chr9:101891131 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1284T>C (p.Tyr428=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001192219]|not specified [RCV003479288] Chr9:99147682 [GRCh38]
Chr9:101909964 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1456T>C (p.Leu486=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180164] Chr9:99149249 [GRCh38]
Chr9:101911531 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.495A>G (p.Ser165=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001176222] Chr9:99132660 [GRCh38]
Chr9:101894942 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1190A>G (p.Lys397Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001187533] Chr9:99146544 [GRCh38]
Chr9:101908826 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.779T>C (p.Leu260Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001226824] Chr9:99138063 [GRCh38]
Chr9:101900345 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.346A>G (p.Lys116Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001188497] Chr9:99132511 [GRCh38]
Chr9:101894793 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1430C>T (p.Ala477Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001188753] Chr9:99149223 [GRCh38]
Chr9:101911505 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1237C>T (p.Arg413Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001189260]|not provided [RCV002259383] Chr9:99146591 [GRCh38]
Chr9:101908873 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.561A>G (p.Ser187=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001176914] Chr9:99132726 [GRCh38]
Chr9:101895008 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1040G>C (p.Cys347Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001177119]|Loeys-Dietz syndrome 1 [RCV002483962]|not provided [RCV003314668] Chr9:99144798 [GRCh38]
Chr9:101907080 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*913C>T single nucleotide variant Loeys-Dietz syndrome 1 [RCV001166169] Chr9:99150218 [GRCh38]
Chr9:101912500 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.527C>T (p.Thr176Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001060276]|not provided [RCV001593237] Chr9:99132692 [GRCh38]
Chr9:101894974 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.714A>C (p.Glu238Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180958] Chr9:99137998 [GRCh38]
Chr9:101900280 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.529T>C (p.Leu177=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001178033]|Loeys-Dietz syndrome 1 [RCV002497622] Chr9:99132694 [GRCh38]
Chr9:101894976 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*3059A>G single nucleotide variant Loeys-Dietz syndrome 1 [RCV001166279] Chr9:99152364 [GRCh38]
Chr9:101914646 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1355C>G (p.Pro452Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001062908]|not provided [RCV002223981] Chr9:99147753 [GRCh38]
Chr9:101910035 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.503G>T (p.Arg168Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190294] Chr9:99132668 [GRCh38]
Chr9:101894950 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1435G>A (p.Gly479Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190544]|not specified [RCV002509624] Chr9:99149228 [GRCh38]
Chr9:101911510 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2290T>C single nucleotide variant Loeys-Dietz syndrome 1 [RCV001166739] Chr9:99151595 [GRCh38]
Chr9:101913877 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.294A>G (p.Thr98=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001175764] Chr9:99129051 [GRCh38]
Chr9:101891333 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.854A>T (p.His285Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001183537] Chr9:99142584 [GRCh38]
Chr9:101904866 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1342dup (p.Gln448fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV001209677] Chr9:99147739..99147740 [GRCh38]
Chr9:101910021..101910022 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.341C>G (p.Thr114Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001191024]|not provided [RCV001773443] Chr9:99129098 [GRCh38]
Chr9:101891380 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.193G>A (p.Val65Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001191049] Chr9:99128950 [GRCh38]
Chr9:101891232 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1211T>C (p.Met404Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184133]|not provided [RCV001773432] Chr9:99146565 [GRCh38]
Chr9:101908847 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.470G>A (p.Arg157Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179096]|not provided [RCV001815506] Chr9:99132635 [GRCh38]
Chr9:101894917 [GRCh37]
Chr9:9q22.33		 uncertain significance
NC_000009.12:g.(?_99142526)_(99150189_?)del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001031242] Chr9:101904808..101912471 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.833dup (p.Leu278fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV001227976] Chr9:99142561..99142562 [GRCh38]
Chr9:101904843..101904844 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.805+7_805+17del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001179490] Chr9:99138095..99138105 [GRCh38]
Chr9:101900377..101900387 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1275A>G (p.Gln425=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001185197] Chr9:99147673 [GRCh38]
Chr9:101909955 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.737C>G (p.Ala246Gly) single nucleotide variant not provided [RCV000999190] Chr9:99138021 [GRCh38]
Chr9:101900303 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1442C>T (p.Ala481Val) single nucleotide variant Loeys-Dietz syndrome 1 [RCV002470561] Chr9:99149235 [GRCh38]
Chr9:101911517 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1387-334_1387-332del deletion not provided [RCV001719569] Chr9:99148844..99148846 [GRCh38]
Chr9:101911126..101911128 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.-91C>T single nucleotide variant not specified [RCV003231002] Chr9:99105115 [GRCh38]
Chr9:101867397 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.1448T>G (p.Leu483Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001865972]|not provided [RCV001560421] Chr9:99149241 [GRCh38]
Chr9:101911523 [GRCh37]
Chr9:9q22.33		 likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.464A>G (p.His155Arg) single nucleotide variant not provided [RCV002469897] Chr9:99132629 [GRCh38]
Chr9:101894911 [GRCh37]
Chr9:9q22.33		 uncertain significance
GRCh37/hg19 9q22.33(chr9:100953443-102003384)x3 copy number gain not provided [RCV001006249] Chr9:100953443..102003384 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.344-142G>A single nucleotide variant not provided [RCV001589451] Chr9:99132367 [GRCh38]
Chr9:101894649 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1386+90_1386+94del deletion not provided [RCV001717423]|not specified [RCV003487763] Chr9:99147870..99147874 [GRCh38]
Chr9:101910152..101910156 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.831_841del (p.Trp277_Asp281delinsTer) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001176113] Chr9:99142560..99142570 [GRCh38]
Chr9:101904842..101904852 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.617T>C (p.Val206Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184910] Chr9:99137901 [GRCh38]
Chr9:101900183 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.98C>G (p.Ala33Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001177769] Chr9:99128855 [GRCh38]
Chr9:101891137 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1157A>G (p.Asp386Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001185196] Chr9:99146511 [GRCh38]
Chr9:101908793 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.883T>A (p.Tyr295Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001188372] Chr9:99142613 [GRCh38]
Chr9:101904895 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1236T>G (p.Ala412=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001185423] Chr9:99146590 [GRCh38]
Chr9:101908872 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1512A>G (p.Ter504=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001185443] Chr9:99149305 [GRCh38]
Chr9:101911587 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.59C>T (p.Ala20Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001305257]|not specified [RCV001194076] Chr9:99105264 [GRCh38]
Chr9:101867546 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*250T>A single nucleotide variant Loeys-Dietz syndrome 1 [RCV001168340] Chr9:99149555 [GRCh38]
Chr9:101911837 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.735G>A (p.Glu245=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001178779] Chr9:99138019 [GRCh38]
Chr9:101900301 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.376C>G (p.Leu126Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001189735] Chr9:99132541 [GRCh38]
Chr9:101894823 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2411G>C single nucleotide variant Loeys-Dietz syndrome 1 [RCV001168459] Chr9:99151716 [GRCh38]
Chr9:101913998 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.842A>C (p.Asp281Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001178836] Chr9:99142572 [GRCh38]
Chr9:101904854 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.157C>T (p.Leu53Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001178843] Chr9:99128914 [GRCh38]
Chr9:101891196 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.398C>T (p.Pro133Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001185383] Chr9:99132563 [GRCh38]
Chr9:101894845 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1439_1440insT (p.Ala481fs) insertion Familial thoracic aortic aneurysm and aortic dissection [RCV001170915]|not provided [RCV003328654] Chr9:99149232..99149233 [GRCh38]
Chr9:101911514..101911515 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1428T>C (p.Tyr476=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001178969] Chr9:99149221 [GRCh38]
Chr9:101911503 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.283G>A (p.Val95Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001178976] Chr9:99129040 [GRCh38]
Chr9:101891322 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1479G>A (p.Ser493=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179020]|not provided [RCV001664735]|not specified [RCV003331063] Chr9:99149272 [GRCh38]
Chr9:101911554 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1091C>G (p.Thr364Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190415]|Loeys-Dietz syndrome 1 [RCV002504207]|not provided [RCV001566721] Chr9:99144849 [GRCh38]
Chr9:101907131 [GRCh37]
Chr9:9q22.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.*441C>T single nucleotide variant Loeys-Dietz syndrome 1 [RCV001169086]|not provided [RCV003222243] Chr9:99149746 [GRCh38]
Chr9:101912028 [GRCh37]
Chr9:9q22.33		 likely benign|uncertain significance
NM_004612.4(TGFBR1):c.*1792C>A single nucleotide variant Loeys-Dietz syndrome 1 [RCV001169154] Chr9:99151097 [GRCh38]
Chr9:101913379 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.651A>G (p.Gly217=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001190964] Chr9:99137935 [GRCh38]
Chr9:101900217 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.929C>A (p.Ala310Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184634] Chr9:99142659 [GRCh38]
Chr9:101904941 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1022T>C (p.Val341Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001179362] Chr9:99144780 [GRCh38]
Chr9:101907062 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1360A>G (p.Ile454Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001191456] Chr9:99147758 [GRCh38]
Chr9:101910040 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1196C>G (p.Ala399Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001191478] Chr9:99146550 [GRCh38]
Chr9:101908832 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.403T>G (p.Cys135Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001187260] Chr9:99132568 [GRCh38]
Chr9:101894850 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1065A>G (p.Ala355=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001192293]|Loeys-Dietz syndrome 1 [RCV002504217]|not provided [RCV001760150] Chr9:99144823 [GRCh38]
Chr9:101907105 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.225T>A (p.Ile75=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001176963] Chr9:99128982 [GRCh38]
Chr9:101891264 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1131-10T>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001183019] Chr9:99146475 [GRCh38]
Chr9:101908757 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.*2T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001177271] Chr9:99149307 [GRCh38]
Chr9:101911589 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1387-14A>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001184615] Chr9:99149166 [GRCh38]
Chr9:101911448 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.276T>C (p.Thr92=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180171] Chr9:99129033 [GRCh38]
Chr9:101891315 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1031A>G (p.Asn344Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180195] Chr9:99144789 [GRCh38]
Chr9:101907071 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.487del (p.Asp163fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001187461]|Loeys-Dietz syndrome 1 [RCV003485685] Chr9:99132651 [GRCh38]
Chr9:101894933 [GRCh37]
Chr9:9q22.33		 likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.65C>T (p.Ala22Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001170708] Chr9:99105270 [GRCh38]
Chr9:101867552 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.623A>T (p.Gln208Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001180260] Chr9:99137907 [GRCh38]
Chr9:101900189 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.470G>C (p.Arg157Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001187586]|not provided [RCV003320809]|not specified [RCV001806036] Chr9:99132635 [GRCh38]
Chr9:101894917 [GRCh37]
Chr9:9q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.1229A>G (p.Glu410Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001035481]|not provided [RCV001759722] Chr9:99146583 [GRCh38]
Chr9:101908865 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.927G>C (p.Thr309=) single nucleotide variant not provided [RCV001702271] Chr9:99142657 [GRCh38]
Chr9:101904939 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.430A>G (p.Met144Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001046399] Chr9:99132595 [GRCh38]
Chr9:101894877 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.787A>G (p.Ile263Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001050179] Chr9:99138071 [GRCh38]
Chr9:101900353 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.974-22T>A single nucleotide variant not provided [RCV001566269] Chr9:99144710 [GRCh38]
Chr9:101906992 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.676G>A (p.Gly226Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001218450] Chr9:99137960 [GRCh38]
Chr9:101900242 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.11C>T (p.Ala4Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001044288]|not provided [RCV001811627] Chr9:99105216 [GRCh38]
Chr9:101867498 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2409A>G single nucleotide variant Loeys-Dietz syndrome 1 [RCV001168458] Chr9:99151714 [GRCh38]
Chr9:101913996 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*469T>C single nucleotide variant Loeys-Dietz syndrome 1 [RCV001169088] Chr9:99149774 [GRCh38]
Chr9:101912056 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.673C>T (p.Arg225Trp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001220396]|Loeys-Dietz syndrome 1 [RCV001806057] Chr9:99137957 [GRCh38]
Chr9:101900239 [GRCh37]
Chr9:9q22.33		 likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.-56G>A single nucleotide variant Loeys-Dietz syndrome 1 [RCV001169011] Chr9:99105150 [GRCh38]
Chr9:101867432 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*1759C>A single nucleotide variant Loeys-Dietz syndrome 1 [RCV001169153] Chr9:99151064 [GRCh38]
Chr9:101913346 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2846A>G single nucleotide variant Loeys-Dietz syndrome 1 [RCV001169194] Chr9:99152151 [GRCh38]
Chr9:101914433 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*4040T>A single nucleotide variant Loeys-Dietz syndrome 1 [RCV001169259] Chr9:99153345 [GRCh38]
Chr9:101915627 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1453_1473del (p.Ala485_Thr491del) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001065118] Chr9:99149243..99149263 [GRCh38]
Chr9:101911525..101911545 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.*1080A>C single nucleotide variant Loeys-Dietz syndrome 1 [RCV001166170] Chr9:99150385 [GRCh38]
Chr9:101912667 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.505C>G (p.Pro169Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001181926] Chr9:99132670 [GRCh38]
Chr9:101894952 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1325G>A (p.Arg442Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001183606] Chr9:99147723 [GRCh38]
Chr9:101910005 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.359G>A (p.Gly120Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001060707] Chr9:99132524 [GRCh38]
Chr9:101894806 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*4219G>A single nucleotide variant Loeys-Dietz syndrome 1 [RCV001169260] Chr9:99153524 [GRCh38]
Chr9:101915806 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1421G>A (p.Cys474Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001067795]|Loeys-Dietz syndrome 1 [RCV002290582] Chr9:99149214 [GRCh38]
Chr9:101911496 [GRCh37]
Chr9:9q22.33		 likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.296A>G (p.Tyr99Cys) single nucleotide variant Ehlers-Danlos syndrome [RCV002276650]|Loeys-Dietz syndrome 1 [RCV001166108] Chr9:99129053 [GRCh38]
Chr9:101891335 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*502T>G single nucleotide variant Loeys-Dietz syndrome 1 [RCV001166168] Chr9:99149807 [GRCh38]
Chr9:101912089 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*3095A>G single nucleotide variant Loeys-Dietz syndrome 1 [RCV001166280] Chr9:99152400 [GRCh38]
Chr9:101914682 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*3150C>T single nucleotide variant Loeys-Dietz syndrome 1 [RCV001166281] Chr9:99152455 [GRCh38]
Chr9:101914737 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*4293A>G single nucleotide variant Loeys-Dietz syndrome 1 [RCV001166335] Chr9:99153598 [GRCh38]
Chr9:101915880 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*4366A>G single nucleotide variant Loeys-Dietz syndrome 1 [RCV001166337] Chr9:99153671 [GRCh38]
Chr9:101915953 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*4445C>G single nucleotide variant Loeys-Dietz syndrome 1 [RCV001166338] Chr9:99153750 [GRCh38]
Chr9:101916032 [GRCh37]
Chr9:9q22.33		 uncertain significance
GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1 copy number loss See cases [RCV001194520] Chr9:96126075..108535272 [GRCh37]
Chr9:9q22.31-31.2		 pathogenic
NM_004612.4(TGFBR1):c.-36GGGCC[4] microsatellite not provided [RCV001641543] Chr9:99105165..99105166 [GRCh38]
Chr9:101867447..101867448 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.1268A>G (p.Asp423Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002001925] Chr9:99147666 [GRCh38]
Chr9:101909948 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.671G>T (p.Trp224Leu) single nucleotide variant not provided [RCV001268148] Chr9:99137955 [GRCh38]
Chr9:101900237 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.1124C>G (p.Thr375Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002436985]|Inborn genetic diseases [RCV001266451] Chr9:99144882 [GRCh38]
Chr9:101907164 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.52GCG[14] (p.Ala22_Ala26dup) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV001326875] Chr9:99105255..99105256 [GRCh38]
Chr9:101867537..101867538 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1307C>A (p.Pro436Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001300417] Chr9:99147705 [GRCh38]
Chr9:101909987 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.516A>G (p.Ser172=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001397196]|Loeys-Dietz syndrome 1 [RCV002070257]|TGFBR1-related condition [RCV003928883] Chr9:99132681 [GRCh38]
Chr9:101894963 [GRCh37]
Chr9:9q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.827T>C (p.Leu276Pro) single nucleotide variant Loeys-Dietz syndrome 1 [RCV001280800] Chr9:99142557 [GRCh38]
Chr9:101904839 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.829T>A (p.Trp277Arg) single nucleotide variant Loeys-Dietz syndrome 1 [RCV001336713] Chr9:99142559 [GRCh38]
Chr9:101904841 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.1445G>C (p.Arg482Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001799317] Chr9:99149238 [GRCh38]
Chr9:101911520 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.951C>T (p.His317=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001414616] Chr9:99142681 [GRCh38]
Chr9:101904963 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.644G>A (p.Arg215Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001359265]|TGFBR1-related condition [RCV003983878] Chr9:99137928 [GRCh38]
Chr9:101900210 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.414C>T (p.Cys138=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001433347] Chr9:99132579 [GRCh38]
Chr9:101894861 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1138G>T (p.Ala380Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001369673] Chr9:99146492 [GRCh38]
Chr9:101908774 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.791CAG[1] (p.Ala265del) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV001322257] Chr9:99138073..99138075 [GRCh38]
Chr9:101900355..101900357 [GRCh37]
Chr9:9q22.33		 likely pathogenic|uncertain significance
NC_000009.11:g.(?_101900318)_(101903694_?)del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001295825] Chr9:101900318..101903694 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.806-15_806-7del deletion not specified [RCV001420898] Chr9:99142517..99142525 [GRCh38]
Chr9:101904799..101904807 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1385A>G (p.Glu462Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001371950] Chr9:99147783 [GRCh38]
Chr9:101910065 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.992A>T (p.His331Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001350602] Chr9:99144750 [GRCh38]
Chr9:101907032 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.238C>T (p.Arg80Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003529479] Chr9:99128995 [GRCh38]
Chr9:101891277 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.318C>T (p.Cys106=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001495270]|TGFBR1-related condition [RCV003931013] Chr9:99129075 [GRCh38]
Chr9:101891357 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1256-3C>A single nucleotide variant not provided [RCV001508632] Chr9:99147651 [GRCh38]
Chr9:101909933 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1210A>G (p.Met404Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524833] Chr9:99146564 [GRCh38]
Chr9:101908846 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.583T>C (p.Leu195=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524980] Chr9:99137867 [GRCh38]
Chr9:101900149 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.921G>A (p.Leu307=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001496833] Chr9:99142651 [GRCh38]
Chr9:101904933 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1134C>T (p.Tyr378=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524680] Chr9:99146488 [GRCh38]
Chr9:101908770 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1394G>A (p.Arg465Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001526269] Chr9:99149187 [GRCh38]
Chr9:101911469 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*5A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001523973] Chr9:99149310 [GRCh38]
Chr9:101911592 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1005A>T (p.Lys335Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001380154] Chr9:99144763 [GRCh38]
Chr9:101907045 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.369T>G (p.Pro123=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001411441] Chr9:99132534 [GRCh38]
Chr9:101894816 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.816T>C (p.Thr272=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001499728]|not provided [RCV003222328] Chr9:99142546 [GRCh38]
Chr9:101904828 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1256-183A>T single nucleotide variant not provided [RCV001716177] Chr9:99147471 [GRCh38]
Chr9:101909753 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.15C>T (p.Val5=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528316]|not provided [RCV001579982] Chr9:99105220 [GRCh38]
Chr9:101867502 [GRCh37]
Chr9:9q22.33		 benign|likely benign
NM_004612.4(TGFBR1):c.973+9dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV001428430] Chr9:99142711..99142712 [GRCh38]
Chr9:101904993..101904994 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1386+6T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525274] Chr9:99147790 [GRCh38]
Chr9:101910072 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.974-3del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001525543] Chr9:99144727 [GRCh38]
Chr9:101907009 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1389C>T (p.Ala463=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001525848] Chr9:99149182 [GRCh38]
Chr9:101911464 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1350A>G (p.Leu450=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001523954] Chr9:99147748 [GRCh38]
Chr9:101910030 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1133A>G (p.Tyr378Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524224] Chr9:99146487 [GRCh38]
Chr9:101908769 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.943C>T (p.His315Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001379085] Chr9:99142673 [GRCh38]
Chr9:101904955 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.1289A>T (p.Asp430Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524486] Chr9:99147687 [GRCh38]
Chr9:101909969 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.239G>A (p.Arg80Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524737] Chr9:99128996 [GRCh38]
Chr9:101891278 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.337A>G (p.Thr113Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001524771] Chr9:99129094 [GRCh38]
Chr9:101891376 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.28C>T (p.Pro10Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003293652] Chr9:99105233 [GRCh38]
Chr9:101867515 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.655G>A (p.Val219Ile) single nucleotide variant not provided [RCV003127104] Chr9:99137939 [GRCh38]
Chr9:101900221 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.-5G>A single nucleotide variant Ehlers-Danlos syndrome [RCV002277102]|not provided [RCV002273366] Chr9:99105201 [GRCh38]
Chr9:101867483 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.873C>G (p.Tyr291Ter) single nucleotide variant not provided [RCV001770728] Chr9:99142603 [GRCh38]
Chr9:101904885 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.640G>C (p.Gly214Arg) single nucleotide variant Loeys-Dietz syndrome 1 [RCV001775443] Chr9:99137924 [GRCh38]
Chr9:101900206 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.1059_1062delinsCAATAA (p.Leu354fs) indel Multiple self-healing squamous epithelioma [RCV001788938] Chr9:99144817..99144820 [GRCh38]
Chr9:101907099..101907102 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.976A>G (p.Lys326Glu) single nucleotide variant not provided [RCV001771467] Chr9:99144734 [GRCh38]
Chr9:101907016 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.958A>T (p.Ile320Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002540547]|not provided [RCV001771479] Chr9:99142688 [GRCh38]
Chr9:101904970 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1087G>A (p.Asp363Asn) single nucleotide variant not provided [RCV001767843] Chr9:99144845 [GRCh38]
Chr9:101907127 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.716A>G (p.Glu239Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002370284]|not provided [RCV001772580] Chr9:99138000 [GRCh38]
Chr9:101900282 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.730C>T (p.Arg244Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528322]|not provided [RCV001768454] Chr9:99138014 [GRCh38]
Chr9:101900296 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.620T>C (p.Leu207Ser) single nucleotide variant not provided [RCV001767283] Chr9:99137904 [GRCh38]
Chr9:101900186 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1126A>G (p.Lys376Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002540399]|not provided [RCV001767609] Chr9:99144884 [GRCh38]
Chr9:101907166 [GRCh37]
Chr9:9q22.33		 pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.630C>G (p.Ser210Arg) single nucleotide variant not provided [RCV001752157] Chr9:99137914 [GRCh38]
Chr9:101900196 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1310C>T (p.Ser437Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528329]|Inborn genetic diseases [RCV002540522]|not provided [RCV001771175] Chr9:99147708 [GRCh38]
Chr9:101909990 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1129A>G (p.Arg377Gly) single nucleotide variant not provided [RCV001758818] Chr9:99144887 [GRCh38]
Chr9:101907169 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.488A>G (p.Asp163Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001805265] Chr9:99132653 [GRCh38]
Chr9:101894935 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.974-1G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002034646]|not provided [RCV001794752] Chr9:99144731 [GRCh38]
Chr9:101907013 [GRCh37]
Chr9:9q22.33		 likely pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.606G>C (p.Ala202=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001799318] Chr9:99137890 [GRCh38]
Chr9:101900172 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.952A>G (p.Met318Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001799319] Chr9:99142682 [GRCh38]
Chr9:101904964 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.844T>G (p.Tyr282Asp) single nucleotide variant not provided [RCV001797434] Chr9:99142574 [GRCh38]
Chr9:101904856 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.805+5_805+6del deletion not provided [RCV001816509] Chr9:99138093..99138094 [GRCh38]
Chr9:101900375..101900376 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.607A>G (p.Arg203Gly) single nucleotide variant not provided [RCV001758533] Chr9:99137891 [GRCh38]
Chr9:101900173 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.994A>G (p.Arg332Gly) single nucleotide variant Loeys-Dietz syndrome 1 [RCV001808160] Chr9:99144752 [GRCh38]
Chr9:101907034 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.344-13G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001804664] Chr9:99132496 [GRCh38]
Chr9:101894778 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1198G>A (p.Asp400Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002542416]|Loeys-Dietz syndrome 1 [RCV001806343] Chr9:99146552 [GRCh38]
Chr9:101908834 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.256T>C (p.Cys86Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001804314] Chr9:99129013 [GRCh38]
Chr9:101891295 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.538T>C (p.Leu180=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001804485] Chr9:99132703 [GRCh38]
Chr9:101894985 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.297T>C (p.Tyr99=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001805584] Chr9:99129054 [GRCh38]
Chr9:101891336 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1107A>G (p.Pro369=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001805651] Chr9:99144865 [GRCh38]
Chr9:101907147 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.180G>C (p.Glu60Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002406892]|TGFBR1-related condition [RCV003416462]|not provided [RCV001811918] Chr9:99128937 [GRCh38]
Chr9:101891219 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.805+5del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001804523] Chr9:99138094 [GRCh38]
Chr9:101900376 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.895G>T (p.Val299Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001871451] Chr9:99142625 [GRCh38]
Chr9:101904907 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.13G>A (p.Val5Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001912428] Chr9:99105218 [GRCh38]
Chr9:101867500 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.424A>T (p.Met142Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001945534] Chr9:99132589 [GRCh38]
Chr9:101894871 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.601A>G (p.Ile201Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001895367] Chr9:99137885 [GRCh38]
Chr9:101900167 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.712GAA[1] (p.Glu239del) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV002025652] Chr9:99137995..99137997 [GRCh38]
Chr9:101900277..101900279 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1357A>G (p.Asn453Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001872517] Chr9:99147755 [GRCh38]
Chr9:101910037 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.569G>A (p.Gly190Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001982760] Chr9:99132734 [GRCh38]
Chr9:101895016 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.961G>T (p.Val321Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001912468] Chr9:99142691 [GRCh38]
Chr9:101904973 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.102dup (p.Gln35fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV001985305] Chr9:99128858..99128859 [GRCh38]
Chr9:101891140..101891141 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.52G>A (p.Ala18Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001891544]|not provided [RCV003481173] Chr9:99105257 [GRCh38]
Chr9:101867539 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.363_364insTCA (p.Leu121_Gly122insSer) insertion Loeys-Dietz syndrome 1 [RCV002053873] Chr9:99132528..99132529 [GRCh38]
Chr9:101894810..101894811 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1138G>C (p.Ala380Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001966953]|Inborn genetic diseases [RCV003170266] Chr9:99146492 [GRCh38]
Chr9:101908774 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.52GCG[3] (p.Ala21_Ala26del) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV001926829]|Loeys-Dietz syndrome 1 [RCV002484588] Chr9:99105256..99105273 [GRCh38]
Chr9:101867538..101867555 [GRCh37]
Chr9:9q22.33		 uncertain significance
GRCh37/hg19 9q22.33(chr9:101699038-102202662)x3 copy number gain not provided [RCV001827894] Chr9:101699038..102202662 [GRCh37]
Chr9:9q22.33		 likely benign
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
GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410) copy number gain not specified [RCV002053853] Chr9:71349994..122603410 [GRCh37]
Chr9:9q21.11-33.2		 likely pathogenic
NM_004612.4(TGFBR1):c.575-18A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001949249] Chr9:99137841 [GRCh38]
Chr9:101900123 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.257G>A (p.Cys86Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002024202] Chr9:99129014 [GRCh38]
Chr9:101891296 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.899A>G (p.Glu300Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001890712] Chr9:99142629 [GRCh38]
Chr9:101904911 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.56C>T (p.Ala19Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001947878] Chr9:99105261 [GRCh38]
Chr9:101867543 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.940G>T (p.Ala314Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002023258] Chr9:99142670 [GRCh38]
Chr9:101904952 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1286A>G (p.Tyr429Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001892805] Chr9:99147684 [GRCh38]
Chr9:101909966 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1294G>C (p.Val432Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001942856] Chr9:99147692 [GRCh38]
Chr9:101909974 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1222T>A (p.Phe408Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001997756] Chr9:99146576 [GRCh38]
Chr9:101908858 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1131-3T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001979830] Chr9:99146482 [GRCh38]
Chr9:101908764 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.344-16C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001989681] Chr9:99132493 [GRCh38]
Chr9:101894775 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.343+5G>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001995615] Chr9:99129105 [GRCh38]
Chr9:101891387 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.41T>C (p.Leu14Pro) single nucleotide variant Ehlers-Danlos syndrome [RCV002276912]|Familial thoracic aortic aneurysm and aortic dissection [RCV001867301]|Loeys-Dietz syndrome 1 [RCV002506892] Chr9:99105246 [GRCh38]
Chr9:101867528 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.-12_14del (p.Met1fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001937153] Chr9:99105188..99105213 [GRCh38]
Chr9:101867470..101867495 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1474T>A (p.Leu492Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002033069] Chr9:99149267 [GRCh38]
Chr9:101911549 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.575-1G>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001977635] Chr9:99137858 [GRCh38]
Chr9:101900140 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.1386dup (p.Ala463fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002027689] Chr9:99147782..99147783 [GRCh38]
Chr9:101910064..101910065 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.516dup (p.Glu173fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV001993206] Chr9:99132680..99132681 [GRCh38]
Chr9:101894962..101894963 [GRCh37]
Chr9:9q22.33		 pathogenic
NC_000009.11:g.(?_101867478)_(101895031_?)dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV001920535] Chr9:101867478..101895031 [GRCh37]
Chr9:9q22.33		 uncertain significance
NC_000009.11:g.(?_100190748)_(103062956_?)del deletion Nephronophthisis [RCV001959180] Chr9:100190748..103062956 [GRCh37]
Chr9:9q22.33-31.1		 pathogenic
NM_004612.4(TGFBR1):c.742A>T (p.Ile248Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001961611]|TGFBR1-related condition [RCV003401988] Chr9:99138026 [GRCh38]
Chr9:101900308 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.814A>C (p.Thr272Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001864872] Chr9:99142544 [GRCh38]
Chr9:101904826 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1256-3C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002016985]|TGFBR1-related condition [RCV003978460] Chr9:99147651 [GRCh38]
Chr9:101909933 [GRCh37]
Chr9:9q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.1351A>G (p.Arg451Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001883859] Chr9:99147749 [GRCh38]
Chr9:101910031 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.307C>G (p.Gln103Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001906785] Chr9:99129064 [GRCh38]
Chr9:101891346 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1091C>T (p.Thr364Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002011418] Chr9:99144849 [GRCh38]
Chr9:101907131 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1311_1313del (p.Val438del) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001993470] Chr9:99147709..99147711 [GRCh38]
Chr9:101909991..101909993 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.331C>G (p.Leu111Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001977369] Chr9:99129088 [GRCh38]
Chr9:101891370 [GRCh37]
Chr9:9q22.33		 uncertain significance
NC_000009.11:g.(?_101900131)_(101900381_?)dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV001955777] Chr9:101900131..101900381 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.73_81del (p.Ala25_Leu27del) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV001953219] Chr9:99105277..99105285 [GRCh38]
Chr9:101867559..101867567 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1446G>A (p.Arg482=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002185639] Chr9:99149239 [GRCh38]
Chr9:101911521 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.97+17C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002149364] Chr9:99105319 [GRCh38]
Chr9:101867601 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1255+11C>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002207347] Chr9:99146620 [GRCh38]
Chr9:101908902 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1071A>G (p.Arg357=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002090736] Chr9:99144829 [GRCh38]
Chr9:101907111 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1443T>C (p.Ala481=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002111008] Chr9:99149236 [GRCh38]
Chr9:101911518 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1387-15T>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002084934] Chr9:99149165 [GRCh38]
Chr9:101911447 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.805+11T>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002206777] Chr9:99138100 [GRCh38]
Chr9:101900382 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.351A>G (p.Ser117=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002126402] Chr9:99132516 [GRCh38]
Chr9:101894798 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.300C>T (p.Cys100=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002170045] Chr9:99129057 [GRCh38]
Chr9:101891339 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.782G>A (p.Gly261Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002409623]|not provided [RCV002224487] Chr9:99138066 [GRCh38]
Chr9:101900348 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1404T>C (p.Ala468=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002074599] Chr9:99149197 [GRCh38]
Chr9:101911479 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.343+21_343+22del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002210386] Chr9:99129116..99129117 [GRCh38]
Chr9:101891398..101891399 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.1130+7T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002192276] Chr9:99144895 [GRCh38]
Chr9:101907177 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1386+8T>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002173755] Chr9:99147792 [GRCh38]
Chr9:101910074 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.42C>T (p.Leu14=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002113337] Chr9:99105247 [GRCh38]
Chr9:101867529 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.120C>G (p.Leu40=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002097009] Chr9:99128877 [GRCh38]
Chr9:101891159 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1107A>C (p.Pro369=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002151115] Chr9:99144865 [GRCh38]
Chr9:101907147 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.745T>G (p.Tyr249Asp) single nucleotide variant not provided [RCV002224366] Chr9:99138029 [GRCh38]
Chr9:101900311 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.126A>G (p.Thr42=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002109173] Chr9:99128883 [GRCh38]
Chr9:101891165 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.795A>C (p.Ala265=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002133060] Chr9:99138079 [GRCh38]
Chr9:101900361 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1256-17T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002214667] Chr9:99147637 [GRCh38]
Chr9:101909919 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1387-8T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002093390] Chr9:99149172 [GRCh38]
Chr9:101911454 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.102A>G (p.Leu34=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002108617] Chr9:99128859 [GRCh38]
Chr9:101891141 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1131-8T>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002213711] Chr9:99146477 [GRCh38]
Chr9:101908759 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.471A>T (p.Arg157=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002094516] Chr9:99132636 [GRCh38]
Chr9:101894918 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.344-16C>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002123348] Chr9:99132493 [GRCh38]
Chr9:101894775 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1386+9T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002081473] Chr9:99147793 [GRCh38]
Chr9:101910075 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1130+16A>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002098192] Chr9:99144904 [GRCh38]
Chr9:101907186 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.720T>A (p.Arg240=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002202451] Chr9:99138004 [GRCh38]
Chr9:101900286 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1038T>G (p.Thr346=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002178451] Chr9:99144796 [GRCh38]
Chr9:101907078 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.575-6C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002142691] Chr9:99137853 [GRCh38]
Chr9:101900135 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1287T>C (p.Tyr429=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003642984]|See cases [RCV002252851] Chr9:99147685 [GRCh38]
Chr9:101909967 [GRCh37]
Chr9:9q22.33		 likely benign|uncertain significance
NM_004612.4(TGFBR1):c.36G>A (p.Leu12=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002175241] Chr9:99105241 [GRCh38]
Chr9:101867523 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.969C>T (p.Thr323=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002100459] Chr9:99142699 [GRCh38]
Chr9:101904981 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1311A>C (p.Ser437=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002143405] Chr9:99147709 [GRCh38]
Chr9:101909991 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.480T>C (p.Asn160=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002143576] Chr9:99132645 [GRCh38]
Chr9:101894927 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.973+9A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002178688] Chr9:99142712 [GRCh38]
Chr9:101904994 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.525T>A (p.Thr175=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002123606] Chr9:99132690 [GRCh38]
Chr9:101894972 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.641G>A (p.Gly214Asp) single nucleotide variant not provided [RCV003109943] Chr9:99137925 [GRCh38]
Chr9:101900207 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NC_000009.11:g.(?_100190748)_(103062956_?)dup duplication ALG2-congenital disorder of glycosylation [RCV003113550]|Familial thoracic aortic aneurysm and aortic dissection [RCV003113551] Chr9:100190748..103062956 [GRCh37]
Chr9:9q22.33-31.1		 uncertain significance
NC_000009.11:g.(?_101867488)_(101867604_?)del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV003113552] Chr9:101867488..101867604 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.75G>T (p.Ala25=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003111504] Chr9:99105280 [GRCh38]
Chr9:101867562 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1387-7C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003115102] Chr9:99149173 [GRCh38]
Chr9:101911455 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.589G>T (p.Val197Phe) single nucleotide variant not provided [RCV003120350] Chr9:99137873 [GRCh38]
Chr9:101900155 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.991C>T (p.His331Tyr) single nucleotide variant See cases [RCV002253046] Chr9:99144749 [GRCh38]
Chr9:101907031 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.50T>A (p.Leu17Gln) single nucleotide variant Ehlers-Danlos syndrome [RCV002278080] Chr9:99105255 [GRCh38]
Chr9:101867537 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.949C>T (p.His317Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002373076]|not provided [RCV002281239] Chr9:99142679 [GRCh38]
Chr9:101904961 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1140C>T (p.Ala380=) single nucleotide variant Ehlers-Danlos syndrome [RCV002278078]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528362] Chr9:99146494 [GRCh38]
Chr9:101908776 [GRCh37]
Chr9:9q22.33		 likely benign|uncertain significance
NM_004612.4(TGFBR1):c.463C>G (p.His155Asp) single nucleotide variant Ehlers-Danlos syndrome [RCV002278079]|Familial thoracic aortic aneurysm and aortic dissection [RCV003528363] Chr9:99132628 [GRCh38]
Chr9:101894910 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1488T>A (p.Ser496Arg) single nucleotide variant Loeys-Dietz syndrome 1 [RCV002289455] Chr9:99149281 [GRCh38]
Chr9:101911563 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.569G>T (p.Gly190Val) single nucleotide variant Loeys-Dietz syndrome 1 [RCV002273119] Chr9:99132734 [GRCh38]
Chr9:101895016 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.957G>T (p.Glu319Asp) single nucleotide variant Loeys-Dietz syndrome 1 [RCV002496209]|not provided [RCV002269683] Chr9:99142687 [GRCh38]
Chr9:101904969 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1071A>C (p.Arg357Ser) single nucleotide variant Ehlers-Danlos syndrome [RCV002278077] Chr9:99144829 [GRCh38]
Chr9:101907111 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.52G>T (p.Ala18Ser) single nucleotide variant Ehlers-Danlos syndrome [RCV002278081] Chr9:99105257 [GRCh38]
Chr9:101867539 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.-69C>A single nucleotide variant not specified [RCV003236537] Chr9:99105137 [GRCh38]
Chr9:101867419 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*1687_*1688del deletion not provided [RCV002293203] Chr9:99150991..99150992 [GRCh38]
Chr9:101913273..101913274 [GRCh37]
Chr9:9q22.33		 benign|likely benign
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_004612.4(TGFBR1):c.1203C>G (p.Ile401Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002351758] Chr9:99146557 [GRCh38]
Chr9:101908839 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.166G>A (p.Val56Ile) single nucleotide variant not provided [RCV002260758] Chr9:99128923 [GRCh38]
Chr9:101891205 [GRCh37]
Chr9:9q22.33		 uncertain significance
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1		 uncertain significance
NM_004612.4(TGFBR1):c.1238G>A (p.Arg413Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002367571] Chr9:99146592 [GRCh38]
Chr9:101908874 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1026GAA[1] (p.Lys343del) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV002387558] Chr9:99144782..99144784 [GRCh38]
Chr9:101907064..101907066 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.66G>A (p.Ala22=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002367145] Chr9:99105271 [GRCh38]
Chr9:101867553 [GRCh37]
Chr9:9q22.33		 likely benign
GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1 copy number loss Gorlin syndrome [RCV002279743] Chr9:93864974..106661581 [GRCh37]
Chr9:9q22.2-31.1		 pathogenic
NM_004612.4(TGFBR1):c.575G>T (p.Gly192Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002349970] Chr9:99137859 [GRCh38]
Chr9:101900141 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.460A>G (p.Ile154Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002342433] Chr9:99132625 [GRCh38]
Chr9:101894907 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.790G>A (p.Ala264Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002416687] Chr9:99138074 [GRCh38]
Chr9:101900356 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.791C>T (p.Ala264Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002416724] Chr9:99138075 [GRCh38]
Chr9:101900357 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1468A>G (p.Lys490Glu) single nucleotide variant Loeys-Dietz syndrome 1 [RCV002471487] Chr9:99149261 [GRCh38]
Chr9:101911543 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.98-1G>A single nucleotide variant Loeys-Dietz syndrome 1 [RCV002470263] Chr9:99128854 [GRCh38]
Chr9:101891136 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1060C>A (p.Leu354Met) single nucleotide variant Loeys-Dietz syndrome 1 [RCV002470369] Chr9:99144818 [GRCh38]
Chr9:101907100 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.1064C>A (p.Ala355Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002412931] Chr9:99144822 [GRCh38]
Chr9:101907104 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.98-866A>G single nucleotide variant Myoepithelial tumor [RCV002463921] Chr9:99127989 [GRCh38]
Chr9:101890271 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.634G>A (p.Gly212Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002304042] Chr9:99137918 [GRCh38]
Chr9:101900200 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1395_1396dup (p.Val466fs) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV002389083] Chr9:99149184..99149185 [GRCh38]
Chr9:101911466..101911467 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.1063G>A (p.Ala355Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002304883] Chr9:99144821 [GRCh38]
Chr9:101907103 [GRCh37]
Chr9:9q22.33		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.1452A>T (p.Thr484=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002394632] Chr9:99149245 [GRCh38]
Chr9:101911527 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1459C>A (p.Arg487=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002394758] Chr9:99149252 [GRCh38]
Chr9:101911534 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.725G>C (p.Trp242Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002305113] Chr9:99138009 [GRCh38]
Chr9:101900291 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.768T>C (p.His256=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002400526] Chr9:99138052 [GRCh38]
Chr9:101900334 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.760T>C (p.Leu254=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002396212] Chr9:99138044 [GRCh38]
Chr9:101900326 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.993T>C (p.His331=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002382897] Chr9:99144751 [GRCh38]
Chr9:101907033 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1249A>G (p.Ile417Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002400536] Chr9:99146603 [GRCh38]
Chr9:101908885 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1387-4G>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002396559] Chr9:99149176 [GRCh38]
Chr9:101911458 [GRCh37]
Chr9:9q22.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_004612.4(TGFBR1):c.1250T>C (p.Ile417Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002409902] Chr9:99146604 [GRCh38]
Chr9:101908886 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.887C>G (p.Thr296Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002449856] Chr9:99142617 [GRCh38]
Chr9:101904899 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.896T>C (p.Val299Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002449912] Chr9:99142626 [GRCh38]
Chr9:101904908 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1054T>C (p.Leu352=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002406238] Chr9:99144812 [GRCh38]
Chr9:101907094 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1355del (p.Pro452fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002383344] Chr9:99147752 [GRCh38]
Chr9:101910034 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.320A>G (p.Asn107Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002294843] Chr9:99129077 [GRCh38]
Chr9:101891359 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.658T>G (p.Trp220Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002375805] Chr9:99137942 [GRCh38]
Chr9:101900224 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1203C>A (p.Ile401=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003098024]|not specified [RCV002302518] Chr9:99146557 [GRCh38]
Chr9:101908839 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.615T>G (p.Ile205Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002353663] Chr9:99137899 [GRCh38]
Chr9:101900181 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1427A>G (p.Tyr476Cys) single nucleotide variant not provided [RCV002302635] Chr9:99149220 [GRCh38]
Chr9:101911502 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.886A>G (p.Thr296Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002375963]|Marfan syndrome [RCV003128456] Chr9:99142616 [GRCh38]
Chr9:101904898 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.759G>A (p.Met253Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002394203] Chr9:99138043 [GRCh38]
Chr9:101900325 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.45C>T (p.Leu15=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002342359] Chr9:99105250 [GRCh38]
Chr9:101867532 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.656T>G (p.Val219Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002364452] Chr9:99137940 [GRCh38]
Chr9:101900222 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.980C>T (p.Pro327Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002376806] Chr9:99144738 [GRCh38]
Chr9:101907020 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.1138_1139delinsTT (p.Ala380Phe) indel Familial thoracic aortic aneurysm and aortic dissection [RCV002326388] Chr9:99146492..99146493 [GRCh38]
Chr9:101908774..101908775 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1183T>C (p.Ser395Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002337652] Chr9:99146537 [GRCh38]
Chr9:101908819 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1424G>C (p.Trp475Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002391900] Chr9:99149217 [GRCh38]
Chr9:101911499 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1278G>A (p.Leu426=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002374085] Chr9:99147676 [GRCh38]
Chr9:101909958 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.953T>C (p.Met318Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002374271] Chr9:99142683 [GRCh38]
Chr9:101904965 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1389C>G (p.Ala463=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002396606] Chr9:99149182 [GRCh38]
Chr9:101911464 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.882A>G (p.Arg294=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002615297] Chr9:99142612 [GRCh38]
Chr9:101904894 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*1697C>T single nucleotide variant not provided [RCV002512384] Chr9:99151002 [GRCh38]
Chr9:101913284 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.376C>T (p.Leu126=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002838522] Chr9:99132541 [GRCh38]
Chr9:101894823 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.903A>G (p.Gly301=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002866018] Chr9:99142633 [GRCh38]
Chr9:101904915 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.97+2_97+35dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002843449] Chr9:99105300..99105301 [GRCh38]
Chr9:101867582..101867583 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1208C>G (p.Ala403Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002771212] Chr9:99146562 [GRCh38]
Chr9:101908844 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.674G>A (p.Arg225Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002730737] Chr9:99137958 [GRCh38]
Chr9:101900240 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.685G>C (p.Val229Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002904749] Chr9:99137969 [GRCh38]
Chr9:101900251 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.445C>G (p.His149Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002995765] Chr9:99132610 [GRCh38]
Chr9:101894892 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.604G>A (p.Ala202Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002881631] Chr9:99137888 [GRCh38]
Chr9:101900170 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.97+15GGCG[2] microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV003034453] Chr9:99105317..99105320 [GRCh38]
Chr9:101867599..101867602 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.806-14A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002756441] Chr9:99142522 [GRCh38]
Chr9:101904804 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.97+6C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003074765] Chr9:99105308 [GRCh38]
Chr9:101867590 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.973G>C (p.Gly325Arg) single nucleotide variant not provided [RCV002461647] Chr9:99142703 [GRCh38]
Chr9:101904985 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.426G>A (p.Met142Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003038427] Chr9:99132591 [GRCh38]
Chr9:101894873 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1131-11A>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002824353] Chr9:99146474 [GRCh38]
Chr9:101908756 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.962T>G (p.Val321Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003003113] Chr9:99142692 [GRCh38]
Chr9:101904974 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.331C>T (p.Leu111Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003019495] Chr9:99129088 [GRCh38]
Chr9:101891370 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1455A>G (p.Ala485=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002871600] Chr9:99149248 [GRCh38]
Chr9:101911530 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.574+1G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003019221] Chr9:99132740 [GRCh38]
Chr9:101895022 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.396A>G (p.Gly132=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002736257] Chr9:99132561 [GRCh38]
Chr9:101894843 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.97+26_97+44dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV003079402] Chr9:99105321..99105322 [GRCh38]
Chr9:101867603..101867604 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.916G>C (p.Ala306Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003078650] Chr9:99142646 [GRCh38]
Chr9:101904928 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.715G>A (p.Glu239Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002975956] Chr9:99137999 [GRCh38]
Chr9:101900281 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.1169T>C (p.Met390Thr) single nucleotide variant Inborn genetic diseases [RCV002758682] Chr9:99146523 [GRCh38]
Chr9:101908805 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.654A>G (p.Glu218=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002760942] Chr9:99137938 [GRCh38]
Chr9:101900220 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.156G>A (p.Gly52=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002622479] Chr9:99128913 [GRCh38]
Chr9:101891195 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1387G>A (p.Ala463Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002620888] Chr9:99149180 [GRCh38]
Chr9:101911462 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1449dup (p.Thr484fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002871104] Chr9:99149240..99149241 [GRCh38]
Chr9:101911522..101911523 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.39C>G (p.Leu13=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002638281] Chr9:99105244 [GRCh38]
Chr9:101867526 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.706T>C (p.Ser236Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003020424] Chr9:99137990 [GRCh38]
Chr9:101900272 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.862C>G (p.Leu288Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002913043] Chr9:99142592 [GRCh38]
Chr9:101904874 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1131-3dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV003037276] Chr9:99146474..99146475 [GRCh38]
Chr9:101908756..101908757 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.836T>C (p.Val279Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003042890] Chr9:99142566 [GRCh38]
Chr9:101904848 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.97+7G>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002596876] Chr9:99105309 [GRCh38]
Chr9:101867591 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.98-19A>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002852600] Chr9:99128836 [GRCh38]
Chr9:101891118 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.37CTC[4] (p.Leu15_Val16insLeu) microsatellite Familial thoracic aortic aneurysm and aortic dissection [RCV002919234] Chr9:99105241..99105242 [GRCh38]
Chr9:101867523..101867524 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.51G>C (p.Leu17=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002643787] Chr9:99105256 [GRCh38]
Chr9:101867538 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1408A>G (p.Ile470Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002852363] Chr9:99149201 [GRCh38]
Chr9:101911483 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.650G>T (p.Gly217Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002625696] Chr9:99137934 [GRCh38]
Chr9:101900216 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1386+17G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002890004] Chr9:99147801 [GRCh38]
Chr9:101910083 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.43C>T (p.Leu15Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002933051] Chr9:99105248 [GRCh38]
Chr9:101867530 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.14T>G (p.Val5Gly) single nucleotide variant Inborn genetic diseases [RCV002713299] Chr9:99105219 [GRCh38]
Chr9:101867501 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.91G>T (p.Ala31Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003007966] Chr9:99105296 [GRCh38]
Chr9:101867578 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1131-12A>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002740998] Chr9:99146473 [GRCh38]
Chr9:101908755 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.973+17T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002852835] Chr9:99142720 [GRCh38]
Chr9:101905002 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1256-12A>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003082080] Chr9:99147642 [GRCh38]
Chr9:101909924 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.304A>C (p.Asn102His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002829786] Chr9:99129061 [GRCh38]
Chr9:101891343 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.392C>G (p.Ala131Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003007669] Chr9:99132557 [GRCh38]
Chr9:101894839 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1348_1352del (p.Leu450fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV003003352] Chr9:99147743..99147747 [GRCh38]
Chr9:101910025..101910029 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.839C>G (p.Ser280Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002872687]|not provided [RCV003314745] Chr9:99142569 [GRCh38]
Chr9:101904851 [GRCh37]
Chr9:9q22.33		 pathogenic|uncertain significance
NM_004612.4(TGFBR1):c.305A>G (p.Asn102Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003090735] Chr9:99129062 [GRCh38]
Chr9:101891344 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.694A>T (p.Lys232Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002746247] Chr9:99137978 [GRCh38]
Chr9:101900260 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.765T>A (p.Arg255=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002676588] Chr9:99138049 [GRCh38]
Chr9:101900331 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1173A>G (p.Lys391=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002833246] Chr9:99146527 [GRCh38]
Chr9:101908809 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.343+22dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV003064914] Chr9:99129115..99129116 [GRCh38]
Chr9:101891397..101891398 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.1063G>C (p.Ala355Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003011202] Chr9:99144821 [GRCh38]
Chr9:101907103 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.378G>A (p.Leu126=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003046153] Chr9:99132543 [GRCh38]
Chr9:101894825 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1057G>A (p.Gly353Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002835053] Chr9:99144815 [GRCh38]
Chr9:101907097 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1104T>C (p.Ala368=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002899296] Chr9:99144862 [GRCh38]
Chr9:101907144 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.816T>A (p.Thr272=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002791872] Chr9:99142546 [GRCh38]
Chr9:101904828 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.176C>T (p.Thr59Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003087754] Chr9:99128933 [GRCh38]
Chr9:101891215 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.555A>G (p.Thr185=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002922355] Chr9:99132720 [GRCh38]
Chr9:101895002 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1255+22dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV003029852] Chr9:99146626..99146627 [GRCh38]
Chr9:101908908..101908909 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.12G>C (p.Ala4=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002671975] Chr9:99105217 [GRCh38]
Chr9:101867499 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.974-4T>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003047215] Chr9:99144728 [GRCh38]
Chr9:101907010 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1488T>G (p.Ser496Arg) single nucleotide variant Inborn genetic diseases [RCV002792654] Chr9:99149281 [GRCh38]
Chr9:101911563 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.7G>A (p.Ala3Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003087926] Chr9:99105212 [GRCh38]
Chr9:101867494 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.665G>A (p.Gly222Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003047227] Chr9:99137949 [GRCh38]
Chr9:101900231 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.240A>G (p.Arg80=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003086093] Chr9:99128997 [GRCh38]
Chr9:101891279 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.452G>A (p.Arg151His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002632244] Chr9:99132617 [GRCh38]
Chr9:101894899 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.574+12G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002605202] Chr9:99132751 [GRCh38]
Chr9:101895033 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1092C>T (p.Thr364=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003050239] Chr9:99144850 [GRCh38]
Chr9:101907132 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.723G>C (p.Ser241=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003050264] Chr9:99138007 [GRCh38]
Chr9:101900289 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.699A>T (p.Ile233=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002814707] Chr9:99137983 [GRCh38]
Chr9:101900265 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.344-9C>T single nucleotide variant not specified [RCV003155845] Chr9:99132500 [GRCh38]
Chr9:101894782 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.355C>T (p.Pro119Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003187686] Chr9:99132520 [GRCh38]
Chr9:101894802 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1478C>T (p.Ser493Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003187687] Chr9:99149271 [GRCh38]
Chr9:101911553 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.775A>G (p.Ile259Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003187688] Chr9:99138059 [GRCh38]
Chr9:101900341 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1040dup (p.Cys347fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV003150768] Chr9:99144797..99144798 [GRCh38]
Chr9:101907079..101907080 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.1410T>G (p.Ile470Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003164870]|not provided [RCV003149515] Chr9:99149203 [GRCh38]
Chr9:101911485 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.581C>T (p.Pro194Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003150766] Chr9:99137865 [GRCh38]
Chr9:101900147 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1387-11T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003150769] Chr9:99149169 [GRCh38]
Chr9:101911451 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1438G>A (p.Ala480Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003187685] Chr9:99149231 [GRCh38]
Chr9:101911513 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.692T>G (p.Val231Gly) single nucleotide variant not provided [RCV003225464] Chr9:99137976 [GRCh38]
Chr9:101900258 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.50T>C (p.Leu17Pro) single nucleotide variant not provided [RCV003128935] Chr9:99105255 [GRCh38]
Chr9:101867537 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.50_52dup (p.Leu17_Ala18insVal) duplication not provided [RCV003321184] Chr9:99105254..99105255 [GRCh38]
Chr9:101867536..101867537 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.174C>G (p.Val58=) single nucleotide variant not provided [RCV003327215] Chr9:99128931 [GRCh38]
Chr9:101891213 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.14T>C (p.Val5Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003360630] Chr9:99105219 [GRCh38]
Chr9:101867501 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.691G>C (p.Val231Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643066]|not provided [RCV003332775] Chr9:99137975 [GRCh38]
Chr9:101900257 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.805+1G>T single nucleotide variant Multiple self-healing squamous epithelioma [RCV003333386] Chr9:99138090 [GRCh38]
Chr9:101900372 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.115C>T (p.His39Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003642502] Chr9:99128872 [GRCh38]
Chr9:101891154 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1143T>C (p.Pro381=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003874721] Chr9:99146497 [GRCh38]
Chr9:101908779 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.243T>C (p.Asp81=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003875171] Chr9:99129000 [GRCh38]
Chr9:101891282 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.10G>A (p.Ala4Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003642445] Chr9:99105215 [GRCh38]
Chr9:101867497 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.847C>T (p.His283Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003642469] Chr9:99142577 [GRCh38]
Chr9:101904859 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.97+18G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003642485] Chr9:99105320 [GRCh38]
Chr9:101867602 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1237C>G (p.Arg413Gly) single nucleotide variant not provided [RCV003481922] Chr9:99146591 [GRCh38]
Chr9:101908873 [GRCh37]
Chr9:9q22.33		 uncertain significance
Single allele deletion not provided [RCV003448676] Chr9:92679543..109378847 [GRCh37]
Chr9:9q22.2-31.2		 pathogenic
NM_004612.4(TGFBR1):c.1105C>G (p.Pro369Ala) single nucleotide variant TGFBR1-related condition [RCV003429114] Chr9:99144863 [GRCh38]
Chr9:101907145 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1025A>G (p.Lys342Arg) single nucleotide variant not provided [RCV003430158] Chr9:99144783 [GRCh38]
Chr9:101907065 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.*2096T>G single nucleotide variant not provided [RCV003430159] Chr9:99151401 [GRCh38]
Chr9:101913683 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.660G>T (p.Trp220Cys) single nucleotide variant TGFBR1-related condition [RCV003392737] Chr9:99137944 [GRCh38]
Chr9:101900226 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.117C>A (p.His39Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003529263] Chr9:99128874 [GRCh38]
Chr9:101891156 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.18T>A (p.Ala6=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003529313] Chr9:99105223 [GRCh38]
Chr9:101867505 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.255A>G (p.Val85=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643254] Chr9:99129012 [GRCh38]
Chr9:101891294 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.27T>C (p.Arg9=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003527870] Chr9:99105232 [GRCh38]
Chr9:101867514 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.638A>T (p.Lys213Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528810] Chr9:99137922 [GRCh38]
Chr9:101900204 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.907A>T (p.Ile303Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528906] Chr9:99142637 [GRCh38]
Chr9:101904919 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1321A>C (p.Met441Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528947] Chr9:99147719 [GRCh38]
Chr9:101910001 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1414A>C (p.Arg472=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003642718] Chr9:99149207 [GRCh38]
Chr9:101911489 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1165A>G (p.Asn389Asp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528846] Chr9:99146519 [GRCh38]
Chr9:101908801 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.237T>C (p.Pro79=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003644350] Chr9:99128994 [GRCh38]
Chr9:101891276 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.98-17T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003644484] Chr9:99128838 [GRCh38]
Chr9:101891120 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.159C>T (p.Leu53=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528688] Chr9:99128916 [GRCh38]
Chr9:101891198 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1402G>A (p.Ala468Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528991] Chr9:99149195 [GRCh38]
Chr9:101911477 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1131-19T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003642829] Chr9:99146466 [GRCh38]
Chr9:101908748 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.973+7C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643726] Chr9:99142710 [GRCh38]
Chr9:101904992 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.2T>C (p.Met1Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643737] Chr9:99105207 [GRCh38]
Chr9:101867489 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.98-18A>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528554] Chr9:99128837 [GRCh38]
Chr9:101891119 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.97+4_97+22dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV003643806] Chr9:99105304..99105305 [GRCh38]
Chr9:101867586..101867587 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.400G>C (p.Val134Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003527772] Chr9:99132565 [GRCh38]
Chr9:101894847 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.343+12A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643863] Chr9:99129112 [GRCh38]
Chr9:101891394 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.97+16G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643920] Chr9:99105318 [GRCh38]
Chr9:101867600 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.359G>T (p.Gly120Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528689] Chr9:99132524 [GRCh38]
Chr9:101894806 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.930G>T (p.Ala310=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528693] Chr9:99142660 [GRCh38]
Chr9:101904942 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1317A>G (p.Glu439=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528694] Chr9:99147715 [GRCh38]
Chr9:101909997 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.574+13T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003527861] Chr9:99132752 [GRCh38]
Chr9:101895034 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1255+16C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003529440] Chr9:99146625 [GRCh38]
Chr9:101908907 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.973+19C>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643263] Chr9:99142722 [GRCh38]
Chr9:101905004 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.97+3G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003644039] Chr9:99105305 [GRCh38]
Chr9:101867587 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.236_237insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGAATGATCACCTGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATTGACTTAATTCC (p.Pro79_Arg80insAlaGlyArgGlyGlySerArgLeuTer) insertion Familial thoracic aortic aneurysm and aortic dissection [RCV003644045] Chr9:99128976..99128977 [GRCh38]
Chr9:101891258..101891259 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.1255+19C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003880459] Chr9:99146628 [GRCh38]
Chr9:101908910 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1280C>G (p.Pro427Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528489] Chr9:99147678 [GRCh38]
Chr9:101909960 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.170C>G (p.Ser57Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643223] Chr9:99128927 [GRCh38]
Chr9:101891209 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.588T>G (p.Leu196=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003644138] Chr9:99137872 [GRCh38]
Chr9:101900154 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1083del (p.Thr362fs) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV003528871] Chr9:99144840 [GRCh38]
Chr9:101907122 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.744T>C (p.Ile248=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528889] Chr9:99138028 [GRCh38]
Chr9:101900310 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.973+1G>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003529113] Chr9:99142704 [GRCh38]
Chr9:101904986 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.806A>G (p.Asp269Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003644280] Chr9:99142536 [GRCh38]
Chr9:101904818 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.973+17T>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003642719] Chr9:99142720 [GRCh38]
Chr9:101905002 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.580C>T (p.Pro194Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003644327] Chr9:99137864 [GRCh38]
Chr9:101900146 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.778C>A (p.Leu260Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003644392] Chr9:99138062 [GRCh38]
Chr9:101900344 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.843_851del (p.Asp281_His283del) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV003644400] Chr9:99142571..99142579 [GRCh38]
Chr9:101904853..101904861 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.3_27dup (p.Pro10fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV003529731] Chr9:99105206..99105207 [GRCh38]
Chr9:101867488..101867489 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.1130+20T>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003644147] Chr9:99144908 [GRCh38]
Chr9:101907190 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.162C>T (p.Cys54=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003644159] Chr9:99128919 [GRCh38]
Chr9:101891201 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.132C>T (p.Asp44=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528919] Chr9:99128889 [GRCh38]
Chr9:101891171 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.435C>G (p.Val145=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003642715] Chr9:99132600 [GRCh38]
Chr9:101894882 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.574+6A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643416] Chr9:99132745 [GRCh38]
Chr9:101895027 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1398A>G (p.Val466=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528492] Chr9:99149191 [GRCh38]
Chr9:101911473 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1298C>T (p.Pro433Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003527787] Chr9:99147696 [GRCh38]
Chr9:101909978 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.643C>T (p.Arg215Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643539] Chr9:99137927 [GRCh38]
Chr9:101900209 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.686T>C (p.Val229Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003644382] Chr9:99137970 [GRCh38]
Chr9:101900252 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.410T>C (p.Val137Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003644384] Chr9:99132575 [GRCh38]
Chr9:101894857 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.387C>G (p.Val129=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643624] Chr9:99132552 [GRCh38]
Chr9:101894834 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1228_1255+1dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV003644398] Chr9:99146578..99146579 [GRCh38]
Chr9:101908860..101908861 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.868G>T (p.Asp290Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003529480] Chr9:99142598 [GRCh38]
Chr9:101904880 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.85C>T (p.Pro29Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643128] Chr9:99105290 [GRCh38]
Chr9:101867572 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.344-2A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003529350] Chr9:99132507 [GRCh38]
Chr9:101894789 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.343+15A>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003529099] Chr9:99129115 [GRCh38]
Chr9:101891397 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.343+16T>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643345] Chr9:99129116 [GRCh38]
Chr9:101891398 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1130+19A>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643385] Chr9:99144907 [GRCh38]
Chr9:101907189 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.974-6C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003529139] Chr9:99144726 [GRCh38]
Chr9:101907008 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1189A>T (p.Lys397Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643483] Chr9:99146543 [GRCh38]
Chr9:101908825 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.1391dup (p.Leu464fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV003643813] Chr9:99149182..99149183 [GRCh38]
Chr9:101911464..101911465 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.453C>T (p.Arg151=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528690] Chr9:99132618 [GRCh38]
Chr9:101894900 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.691G>A (p.Val231Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528692] Chr9:99137975 [GRCh38]
Chr9:101900257 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1479G>C (p.Ser493=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003528695] Chr9:99149272 [GRCh38]
Chr9:101911554 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1446G>C (p.Arg482Ser) single nucleotide variant Loeys-Dietz syndrome [RCV003533864] Chr9:99149239 [GRCh38]
Chr9:101911521 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.1193G>A (p.Arg398His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003642596] Chr9:99146547 [GRCh38]
Chr9:101908829 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1476A>G (p.Leu492=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003642634] Chr9:99149269 [GRCh38]
Chr9:101911551 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.574+7_574+8del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV003528691] Chr9:99132745..99132746 [GRCh38]
Chr9:101895027..101895028 [GRCh37]
Chr9:9q22.33		 conflicting interpretations of pathogenicity
NM_004612.4(TGFBR1):c.281C>G (p.Ser94Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643918] Chr9:99129038 [GRCh38]
Chr9:101891320 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.635G>T (p.Gly212Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003529661] Chr9:99137919 [GRCh38]
Chr9:101900201 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.97+12C>G single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643390] Chr9:99105314 [GRCh38]
Chr9:101867596 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1131-3del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV003643428] Chr9:99146475 [GRCh38]
Chr9:101908757 [GRCh37]
Chr9:9q22.33		 benign
NM_004612.4(TGFBR1):c.1152C>G (p.Leu384=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643541] Chr9:99146506 [GRCh38]
Chr9:101908788 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.867T>C (p.Phe289=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643183] Chr9:99142597 [GRCh38]
Chr9:101904879 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1130+9T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643583] Chr9:99144897 [GRCh38]
Chr9:101907179 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1131-8T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643593] Chr9:99146477 [GRCh38]
Chr9:101908759 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.777C>T (p.Ile259=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643545] Chr9:99138061 [GRCh38]
Chr9:101900343 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.602T>C (p.Ile201Thr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643791] Chr9:99137886 [GRCh38]
Chr9:101900168 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.156G>C (p.Gly52=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643794] Chr9:99128913 [GRCh38]
Chr9:101891195 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.992A>C (p.His331Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003644059] Chr9:99144750 [GRCh38]
Chr9:101907032 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.852G>A (p.Glu284=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643818] Chr9:99142582 [GRCh38]
Chr9:101904864 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1194T>C (p.Arg398=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643889] Chr9:99146548 [GRCh38]
Chr9:101908830 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1483C>T (p.Leu495Phe) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003642682] Chr9:99149276 [GRCh38]
Chr9:101911558 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.343+14A>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003642581] Chr9:99129114 [GRCh38]
Chr9:101891396 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.756A>C (p.Val252=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003644034] Chr9:99138040 [GRCh38]
Chr9:101900322 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.483A>G (p.Glu161=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003644365] Chr9:99132648 [GRCh38]
Chr9:101894930 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1080A>C (p.Ser360=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003644413] Chr9:99144838 [GRCh38]
Chr9:101907120 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.97+7G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003878924] Chr9:99105309 [GRCh38]
Chr9:101867591 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1130+14C>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003642676] Chr9:99144902 [GRCh38]
Chr9:101907184 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.797A>T (p.Asp266Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003643136] Chr9:99138081 [GRCh38]
Chr9:101900363 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1416A>G (p.Arg472=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003835082] Chr9:99149209 [GRCh38]
Chr9:101911491 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1256-9C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003812025] Chr9:99147645 [GRCh38]
Chr9:101909927 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1475_1477del (p.Leu492del) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV003849638] Chr9:99149266..99149268 [GRCh38]
Chr9:101911548..101911550 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.690T>C (p.Ala230=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003856199] Chr9:99137974 [GRCh38]
Chr9:101900256 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1043G>A (p.Cys348Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003837750] Chr9:99144801 [GRCh38]
Chr9:101907083 [GRCh37]
Chr9:9q22.33		 pathogenic
NM_004612.4(TGFBR1):c.343+1G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003818769] Chr9:99129101 [GRCh38]
Chr9:101891383 [GRCh37]
Chr9:9q22.33		 likely pathogenic
NM_004612.4(TGFBR1):c.84C>T (p.Leu28=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003860154] Chr9:99105289 [GRCh38]
Chr9:101867571 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.70_97+13dup duplication Familial thoracic aortic aneurysm and aortic dissection [RCV003823575] Chr9:99105265..99105266 [GRCh38]
Chr9:101867547..101867548 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1230A>G (p.Glu410=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003824125] Chr9:99146584 [GRCh38]
Chr9:101908866 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1153G>A (p.Asp385Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003871393] Chr9:99146507 [GRCh38]
Chr9:101908789 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.895G>A (p.Val299Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003871948] Chr9:99142625 [GRCh38]
Chr9:101904907 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1386+6del deletion Familial thoracic aortic aneurysm and aortic dissection [RCV003872158] Chr9:99147790 [GRCh38]
Chr9:101910072 [GRCh37]
Chr9:9q22.33		 uncertain significance
NM_004612.4(TGFBR1):c.1131-16T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003864764] Chr9:99146469 [GRCh38]
Chr9:101908751 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.945T>C (p.His315=) single nucleotide variant TGFBR1-related condition [RCV003927257] Chr9:99142675 [GRCh38]
Chr9:101904957 [GRCh37]
Chr9:9q22.33		 likely benign
NM_004612.4(TGFBR1):c.1278G>C (p.Leu426=) single nucleotide variant not provided [RCV003887208] Chr9:99147676 [GRCh38]
Chr9:101909958 [GRCh37]
Chr9:9q22.33		 likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR128-1hsa-miR-128-3pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI20054641
MIR128-1hsa-miR-128-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248
MIR128-1hsa-miR-128-3pOncomiRDBexternal_infoNANA20054641
MIR140hsa-miR-140-5pOncomiRDBexternal_infoNANA23401231
MIRLET7Chsa-let-7c-5pMirtarbaseexternal_infoqRT-PCR//Luciferase reporter assay//Western blotFunctional MTI19841744
MIRLET7Chsa-let-7c-3pMirecordsexternal_info{changed}NA19841744
MIR204hsa-miR-204-5pMirtarbaseexternal_infoLuciferase reporter assayNon-Functional MTI20056717

Predicted Target Of
Summary Value
Count of predictions:5853
Count of miRNA genes:1055
Interacting mature miRNAs:1310
Transcripts:ENST00000374990, ENST00000374994, ENST00000546584, ENST00000547314, ENST00000548365, ENST00000549021, ENST00000549766, ENST00000550253, ENST00000552516, ENST00000552573
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.

Markers in Region
SHGC-12551  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379101,911,916 - 101,912,218UniSTSGRCh37
GRCh379101,911,607 - 101,911,935UniSTSGRCh37
Build 369100,951,737 - 100,952,039RGDNCBI36
Celera972,425,468 - 72,425,796UniSTS
Celera972,425,777 - 72,426,079RGD
Cytogenetic Map9q22UniSTS
HuRef971,510,265 - 71,510,593UniSTS
HuRef971,510,574 - 71,510,876UniSTS
Stanford-G3 RH Map93439.0UniSTS
GeneMap99-GB4 RH Map9323.03UniSTS
Whitehead-RH Map9364.0UniSTS
NCBI RH Map9838.6UniSTS
GeneMap99-G3 RH Map93337.0UniSTS
RH69005  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379101,911,902 - 101,912,034UniSTSGRCh37
Build 369100,951,723 - 100,951,855RGDNCBI36
Celera972,425,763 - 72,425,895RGD
Cytogenetic Map9q22UniSTS
HuRef971,510,560 - 71,510,692UniSTS
GeneMap99-GB4 RH Map9323.03UniSTS
SHGC-34660  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379101,915,782 - 101,915,911UniSTSGRCh37
Build 369100,955,603 - 100,955,732RGDNCBI36
Celera972,429,643 - 72,429,772RGD
Cytogenetic Map9q22UniSTS
HuRef971,514,440 - 71,514,569UniSTS
TNG Radiation Hybrid Map938429.0UniSTS
Stanford-G3 RH Map93433.0UniSTS
GeneMap99-GB4 RH Map9322.43UniSTS
Whitehead-RH Map9367.5UniSTS
NCBI RH Map9837.7UniSTS
GeneMap99-G3 RH Map93331.0UniSTS
SHGC-78743  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379101,906,763 - 101,907,041UniSTSGRCh37
Build 369100,946,584 - 100,946,862RGDNCBI36
Celera972,420,627 - 72,420,905RGD
Cytogenetic Map9q22UniSTS
HuRef971,505,424 - 71,505,702UniSTS
TNG Radiation Hybrid Map938433.0UniSTS
RH121979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379101,915,889 - 101,916,074UniSTSGRCh37
Build 369100,955,710 - 100,955,895RGDNCBI36
Celera972,429,750 - 72,429,935RGD
Cytogenetic Map9q22UniSTS
HuRef971,514,547 - 71,514,732UniSTS
TNG Radiation Hybrid Map938425.0UniSTS
SHGC-147856  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379101,908,256 - 101,908,565UniSTSGRCh37
Build 369100,948,077 - 100,948,386RGDNCBI36
Celera972,422,120 - 72,422,429RGD
Cytogenetic Map9q22UniSTS
HuRef971,506,917 - 71,507,226UniSTS
TNG Radiation Hybrid Map938433.0UniSTS
TGFBR1_1095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379101,911,573 - 101,912,467UniSTSGRCh37
Build 369100,951,394 - 100,952,288RGDNCBI36
Celera972,425,434 - 72,426,328RGD
HuRef971,510,231 - 71,511,125UniSTS
RH35823  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379101,915,769 - 101,915,940UniSTSGRCh37
Build 369100,955,590 - 100,955,761RGDNCBI36
Celera972,429,630 - 72,429,801RGD
Cytogenetic Map9q22UniSTS
HuRef971,514,427 - 71,514,598UniSTS
GeneMap99-GB4 RH Map9323.13UniSTS
NCBI RH Map9850.6UniSTS
UniSTS:496000  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379101,908,772 - 101,908,875UniSTSGRCh37
Build 369100,948,593 - 100,948,696RGDNCBI36
Celera972,422,636 - 72,422,739RGD
HuRef971,507,433 - 71,507,536UniSTS
SHGC-57485  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379101,871,377 - 101,871,471UniSTSGRCh37
Build 369100,911,198 - 100,911,292RGDNCBI36
Celera972,385,245 - 72,385,339RGD
Cytogenetic Map9q22UniSTS
HuRef971,470,039 - 71,470,133UniSTS
TNG Radiation Hybrid Map938408.0UniSTS
RH45434  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379101,890,536 - 101,890,728UniSTSGRCh37
Build 369100,930,357 - 100,930,549RGDNCBI36
Celera972,404,400 - 72,404,592RGD
Cytogenetic Map9q22UniSTS
HuRef971,489,194 - 71,489,386UniSTS
GeneMap99-GB4 RH Map9323.13UniSTS
NCBI RH Map9850.6UniSTS
RH45113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379101,893,631 - 101,893,761UniSTSGRCh37
Build 369100,933,452 - 100,933,582RGDNCBI36
Celera972,407,495 - 72,407,625RGD
Cytogenetic Map9q22UniSTS
HuRef971,492,285 - 71,492,415UniSTS
GeneMap99-GB4 RH Map9324.95UniSTS
NCBI RH Map9858.6UniSTS
RH45880  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379101,916,135 - 101,916,257UniSTSGRCh37
Build 369100,955,956 - 100,956,078RGDNCBI36
Celera972,429,996 - 72,430,118RGD
Cytogenetic Map9q22UniSTS
HuRef971,514,793 - 71,514,915UniSTS
GeneMap99-GB4 RH Map9323.13UniSTS
NCBI RH Map9850.6UniSTS
D9S2089  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379101,878,289 - 101,878,433UniSTSGRCh37
Build 369100,918,110 - 100,918,254RGDNCBI36
Celera972,392,155 - 72,392,299RGD
Cytogenetic Map9q22UniSTS
HuRef971,476,949 - 71,477,093UniSTS
GDB:437164  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q22UniSTS
SHGC-12551  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q22UniSTS
GeneMap99-GB4 RH Map9323.03UniSTS
Whitehead-RH Map9364.0UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1994 1881 979 229 1477 119 2575 965 1595 317 1335 1473 126 1 1059 1530 5 1
Low 445 1110 747 395 474 346 1781 1232 2139 102 124 140 49 145 1258 1 1
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001130916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001306210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001407438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_176363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011518950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017015063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AH006005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH015633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ420419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ619019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ619020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY497473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF142853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF142854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU143401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB448229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L11695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U51139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000374990   ⟹   ENSP00000364129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl999,105,111 - 99,153,649 (+)Ensembl
RefSeq Acc Id: ENST00000374994   ⟹   ENSP00000364133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl999,105,113 - 99,154,192 (+)Ensembl
RefSeq Acc Id: ENST00000546584   ⟹   ENSP00000447707
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl999,127,934 - 99,132,739 (+)Ensembl
RefSeq Acc Id: ENST00000547314   ⟹   ENSP00000449934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl999,104,038 - 99,154,192 (+)Ensembl
RefSeq Acc Id: ENST00000548365   ⟹   ENSP00000448518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl999,127,874 - 99,149,448 (+)Ensembl
RefSeq Acc Id: ENST00000549021   ⟹   ENSP00000449028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl999,127,775 - 99,149,448 (+)Ensembl
RefSeq Acc Id: ENST00000549766   ⟹   ENSP00000446685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl999,105,150 - 99,149,528 (+)Ensembl
RefSeq Acc Id: ENST00000550253   ⟹   ENSP00000450052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl999,127,916 - 99,149,341 (+)Ensembl
RefSeq Acc Id: ENST00000552516   ⟹   ENSP00000447297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl999,105,150 - 99,153,658 (+)Ensembl
RefSeq Acc Id: ENST00000552573   ⟹   ENSP00000447182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl999,104,070 - 99,154,192 (+)Ensembl
RefSeq Acc Id: ENST00000698941   ⟹   ENSP00000514048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl999,105,037 - 99,151,351 (+)Ensembl
RefSeq Acc Id: ENST00000698942   ⟹   ENSP00000514049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl999,128,906 - 99,149,580 (+)Ensembl
RefSeq Acc Id: ENST00000698943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl999,146,832 - 99,151,361 (+)Ensembl
RefSeq Acc Id: NM_001130916   ⟹   NP_001124388
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,113 - 99,154,192 (+)NCBI
GRCh379101,867,412 - 101,916,474 (+)ENTREZGENE
HuRef971,464,684 - 71,515,132 (+)ENTREZGENE
CHM1_19102,013,810 - 102,062,916 (+)NCBI
T2T-CHM13v2.09111,276,814 - 111,325,904 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001306210   ⟹   NP_001293139
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,113 - 99,154,192 (+)NCBI
CHM1_19102,013,810 - 102,062,916 (+)NCBI
T2T-CHM13v2.09111,276,814 - 111,325,904 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001407416   ⟹   NP_001394345
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,113 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,276,814 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_001407417   ⟹   NP_001394346
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,113 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,276,814 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_001407418   ⟹   NP_001394347
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,103,647 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,275,348 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_001407419   ⟹   NP_001394348
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,083 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,276,784 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_001407420   ⟹   NP_001394349
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,113 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,276,814 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_001407422   ⟹   NP_001394351
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,113 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,276,814 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_001407423   ⟹   NP_001394352
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,103,647 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,275,348 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_001407424   ⟹   NP_001394353
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,104,052 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,275,753 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_001407425   ⟹   NP_001394354
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,104,449 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,276,150 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_001407426   ⟹   NP_001394355
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,113 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,276,814 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_001407427   ⟹   NP_001394356
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,814 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,277,515 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_001407428   ⟹   NP_001394357
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,113 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,276,814 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_001407429   ⟹   NP_001394358
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,113 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,276,814 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_001407430   ⟹   NP_001394359
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,575 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,277,276 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_001407432   ⟹   NP_001394361
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,083 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,276,784 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_001407433   ⟹   NP_001394362
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,083 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,276,784 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_001407434   ⟹   NP_001394363
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,104,692 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,276,393 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_001407435   ⟹   NP_001394364
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,113 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,276,814 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_001407436   ⟹   NP_001394365
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,113 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,276,814 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_001407437   ⟹   NP_001394366
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,113 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,276,814 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_001407438   ⟹   NP_001394367
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,113 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,276,814 - 111,325,904 (+)NCBI
RefSeq Acc Id: NM_004612   ⟹   NP_004603
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,113 - 99,154,192 (+)NCBI
GRCh379101,867,412 - 101,916,474 (+)ENTREZGENE
Build 369100,907,233 - 100,956,295 (+)NCBI Archive
HuRef971,464,684 - 71,515,132 (+)ENTREZGENE
CHM1_19102,013,810 - 102,062,916 (+)NCBI
T2T-CHM13v2.09111,276,814 - 111,325,904 (+)NCBI
Sequence:
RefSeq Acc Id: NR_176360
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,113 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,276,814 - 111,325,904 (+)NCBI
RefSeq Acc Id: NR_176361
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,113 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,276,814 - 111,325,904 (+)NCBI
RefSeq Acc Id: NR_176362
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,113 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,276,814 - 111,325,904 (+)NCBI
RefSeq Acc Id: NR_176363
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,113 - 99,154,192 (+)NCBI
T2T-CHM13v2.09111,276,814 - 111,325,904 (+)NCBI
RefSeq Acc Id: XM_011518948   ⟹   XP_011517250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,111,327 - 99,154,192 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054363656   ⟹   XP_054219631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.09111,282,617 - 111,325,904 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001124388 (Get FASTA)   NCBI Sequence Viewer  
  NP_001293139 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394345 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394346 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394347 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394348 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394349 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394351 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394352 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394353 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394354 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394355 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394356 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394357 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394358 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394359 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394361 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394362 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394363 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394364 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394365 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394366 (Get FASTA)   NCBI Sequence Viewer  
  NP_001394367 (Get FASTA)   NCBI Sequence Viewer  
  NP_004603 (Get FASTA)   NCBI Sequence Viewer  
  XP_011517250 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219631 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA16073 (Get FASTA)   NCBI Sequence Viewer  
  AAC08998 (Get FASTA)   NCBI Sequence Viewer  
  AAD02042 (Get FASTA)   NCBI Sequence Viewer  
  AAH71181 (Get FASTA)   NCBI Sequence Viewer  
  AAR32097 (Get FASTA)   NCBI Sequence Viewer  
  ABD46753 (Get FASTA)   NCBI Sequence Viewer  
  ABO93068 (Get FASTA)   NCBI Sequence Viewer  
  ABO93069 (Get FASTA)   NCBI Sequence Viewer  
  ACZ58375 (Get FASTA)   NCBI Sequence Viewer  
  BAG63449 (Get FASTA)   NCBI Sequence Viewer  
  BAG63588 (Get FASTA)   NCBI Sequence Viewer  
  CAF02096 (Get FASTA)   NCBI Sequence Viewer  
  CAF02097 (Get FASTA)   NCBI Sequence Viewer  
  CAZ91468 (Get FASTA)   NCBI Sequence Viewer  
  EAW58905 (Get FASTA)   NCBI Sequence Viewer  
  EAW58906 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000364129
  ENSP00000364129.2
  ENSP00000364133
  ENSP00000364133.4
  ENSP00000446685.1
  ENSP00000447182.3
  ENSP00000447297
  ENSP00000447297.1
  ENSP00000447707.2
  ENSP00000448518.2
  ENSP00000449028.2
  ENSP00000449934
  ENSP00000449934.2
  ENSP00000450052
  ENSP00000450052.1
  ENSP00000514048
  ENSP00000514048.1
  ENSP00000514049.1
GenBank Protein P36897 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_004603   ⟸   NM_004612
- Peptide Label: isoform 1 precursor
- UniProtKB: Q706C0 (UniProtKB/Swiss-Prot),   Q6IR47 (UniProtKB/Swiss-Prot),   Q706C1 (UniProtKB/Swiss-Prot),   P36897 (UniProtKB/Swiss-Prot),   Q5T7S2 (UniProtKB/TrEMBL),   B4DXN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001124388   ⟸   NM_001130916
- Peptide Label: isoform 2 precursor
- UniProtKB: F8VXZ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011517250   ⟸   XM_011518948
- Peptide Label: isoform X1
- UniProtKB: F8W0K6 (UniProtKB/TrEMBL),   A0A8V8TMH4 (UniProtKB/TrEMBL),   F8VXZ5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001293139   ⟸   NM_001306210
- Peptide Label: isoform 3 precursor
- UniProtKB: B4DXN7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000364129   ⟸   ENST00000374990
RefSeq Acc Id: ENSP00000364133   ⟸   ENST00000374994
RefSeq Acc Id: ENSP00000447707   ⟸   ENST00000546584
RefSeq Acc Id: ENSP00000449934   ⟸   ENST00000547314
RefSeq Acc Id: ENSP00000448518   ⟸   ENST00000548365
RefSeq Acc Id: ENSP00000449028   ⟸   ENST00000549021
RefSeq Acc Id: ENSP00000446685   ⟸   ENST00000549766
RefSeq Acc Id: ENSP00000450052   ⟸   ENST00000550253
RefSeq Acc Id: ENSP00000447297   ⟸   ENST00000552516
RefSeq Acc Id: ENSP00000447182   ⟸   ENST00000552573
RefSeq Acc Id: ENSP00000514049   ⟸   ENST00000698942
RefSeq Acc Id: ENSP00000514048   ⟸   ENST00000698941
RefSeq Acc Id: NP_001394347   ⟸   NM_001407418
- Peptide Label: isoform 6
- UniProtKB: F8W0K6 (UniProtKB/TrEMBL),   A0A8V8TMH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001394352   ⟸   NM_001407423
- Peptide Label: isoform 7
- UniProtKB: F8VVC4 (UniProtKB/TrEMBL),   B4DY26 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001394353   ⟸   NM_001407424
- Peptide Label: isoform 7
- UniProtKB: F8VVC4 (UniProtKB/TrEMBL),   B4DY26 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001394354   ⟸   NM_001407425
- Peptide Label: isoform 7
- UniProtKB: F8VVC4 (UniProtKB/TrEMBL),   B4DY26 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001394363   ⟸   NM_001407434
- Peptide Label: isoform 7
- UniProtKB: F8VVC4 (UniProtKB/TrEMBL),   B4DY26 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001394361   ⟸   NM_001407432
- Peptide Label: isoform 7
- UniProtKB: F8VVC4 (UniProtKB/TrEMBL),   B4DY26 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001394348   ⟸   NM_001407419
- Peptide Label: isoform 6
- UniProtKB: F8W0K6 (UniProtKB/TrEMBL),   A0A8V8TMH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001394362   ⟸   NM_001407433
- Peptide Label: isoform 7
- UniProtKB: F8VVC4 (UniProtKB/TrEMBL),   B4DY26 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001394351   ⟸   NM_001407422
- Peptide Label: isoform 6
- UniProtKB: F8W0K6 (UniProtKB/TrEMBL),   A0A8V8TMH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001394355   ⟸   NM_001407426
- Peptide Label: isoform 7
- UniProtKB: F8VVC4 (UniProtKB/TrEMBL),   B4DY26 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001394357   ⟸   NM_001407428
- Peptide Label: isoform 7
- UniProtKB: F8VVC4 (UniProtKB/TrEMBL),   B4DY26 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001394349   ⟸   NM_001407420
- Peptide Label: isoform 6
- UniProtKB: F8W0K6 (UniProtKB/TrEMBL),   A0A8V8TMH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001394358   ⟸   NM_001407429
- Peptide Label: isoform 7
- UniProtKB: F8VVC4 (UniProtKB/TrEMBL),   B4DY26 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001394345   ⟸   NM_001407416
- Peptide Label: isoform 4 precursor
RefSeq Acc Id: NP_001394346   ⟸   NM_001407417
- Peptide Label: isoform 5 precursor
RefSeq Acc Id: NP_001394364   ⟸   NM_001407435
- Peptide Label: isoform 8 precursor
RefSeq Acc Id: NP_001394365   ⟸   NM_001407436
- Peptide Label: isoform 9 precursor
RefSeq Acc Id: NP_001394367   ⟸   NM_001407438
- Peptide Label: isoform 10 precursor
RefSeq Acc Id: NP_001394366   ⟸   NM_001407437
- Peptide Label: isoform 11 precursor
RefSeq Acc Id: NP_001394359   ⟸   NM_001407430
- Peptide Label: isoform 7
- UniProtKB: F8VVC4 (UniProtKB/TrEMBL),   B4DY26 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001394356   ⟸   NM_001407427
- Peptide Label: isoform 7
- UniProtKB: F8VVC4 (UniProtKB/TrEMBL),   B4DY26 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054219631   ⟸   XM_054363656
- Peptide Label: isoform X1
- UniProtKB: F8W0K6 (UniProtKB/TrEMBL),   A0A8V8TMH4 (UniProtKB/TrEMBL)
Protein Domains
Activin types I and II receptor   GS   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P36897-F1-model_v2 AlphaFold P36897 1-503 view protein structure

Promoters
RGD ID:7215651
Promoter ID:EPDNEW_H13572
Type:initiation region
Name:TGFBR1_1
Description:transforming growth factor beta receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13573  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,116 - 99,105,176EPDNEW
RGD ID:7215653
Promoter ID:EPDNEW_H13573
Type:initiation region
Name:TGFBR1_2
Description:transforming growth factor beta receptor 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13572  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38999,105,242 - 99,105,302EPDNEW
RGD ID:6813745
Promoter ID:HG_ACW:81680
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:TGFBR1.FAPR07,   TGFBR1.GAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 369100,905,506 - 100,906,006 (+)MPROMDB
RGD ID:6808298
Promoter ID:HG_KWN:64306
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000374990,   OTTHUMT00000053390
Position:
Human AssemblyChrPosition (strand)Source
Build 369100,906,601 - 100,907,322 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11772 AgrOrtholog
COSMIC TGFBR1 COSMIC
Ensembl Genes ENSG00000106799 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000374990 ENTREZGENE
  ENST00000374990.6 UniProtKB/Swiss-Prot
  ENST00000374994 ENTREZGENE
  ENST00000374994.9 UniProtKB/Swiss-Prot
  ENST00000546584.1 UniProtKB/TrEMBL
  ENST00000547314 ENTREZGENE
  ENST00000547314.6 UniProtKB/TrEMBL
  ENST00000548365.6 UniProtKB/TrEMBL
  ENST00000549021.6 UniProtKB/TrEMBL
  ENST00000549766.5 UniProtKB/TrEMBL
  ENST00000550253 ENTREZGENE
  ENST00000550253.1 UniProtKB/TrEMBL
  ENST00000552516 ENTREZGENE
  ENST00000552516.5 UniProtKB/Swiss-Prot
  ENST00000552573.7 UniProtKB/TrEMBL
  ENST00000698941 ENTREZGENE
  ENST00000698941.1 UniProtKB/TrEMBL
  ENST00000698942.1 UniProtKB/TrEMBL
Gene3D-CATH 2.10.60.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000106799 GTEx
HGNC ID HGNC:11772 ENTREZGENE
Human Proteome Map TGFBR1 Human Proteome Map
InterPro Activin_recp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kinase-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/TrEMBL
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Snake_toxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGFB_receptor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7046 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7046 ENTREZGENE
OMIM 190181 OMIM
PANTHER PTHR23255 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TGF-BETA RECEPTOR TYPE-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Activin_recp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Pkinase_Tyr UniProtKB/TrEMBL
  TGF_beta_GS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36485 PharmGKB
PIRSF Integrin-linked_kinase UniProtKB/TrEMBL
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS51256 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART S_TKc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00467 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57302 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A8V8TMH4 ENTREZGENE
  A0A8V8TMI6_HUMAN UniProtKB/TrEMBL
  A6MIV6_HUMAN UniProtKB/TrEMBL
  A6MIV7_HUMAN UniProtKB/TrEMBL
  B4DXN7 ENTREZGENE, UniProtKB/TrEMBL
  B4DY26 ENTREZGENE, UniProtKB/TrEMBL
  F8VRH6_HUMAN UniProtKB/TrEMBL
  F8VVC4 ENTREZGENE
  F8VXZ5 ENTREZGENE, UniProtKB/TrEMBL
  F8W0K6 ENTREZGENE, UniProtKB/TrEMBL
  F8W1R9_HUMAN UniProtKB/TrEMBL
  H0YHS4_HUMAN UniProtKB/TrEMBL
  P36897 ENTREZGENE
  Q5T7S2 ENTREZGENE, UniProtKB/TrEMBL
  Q6IR47 ENTREZGENE
  Q706C0 ENTREZGENE
  Q706C1 ENTREZGENE
  TGFR1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0A8V8TMH4 UniProtKB/TrEMBL
  F8VVC4 UniProtKB/TrEMBL
  Q6IR47 UniProtKB/Swiss-Prot
  Q706C0 UniProtKB/Swiss-Prot
  Q706C1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-03 TGFBR1  transforming growth factor beta receptor 1  TGFBR1  transforming growth factor beta receptor I  Symbol and/or name change 5135510 APPROVED
2016-04-05 TGFBR1  transforming growth factor beta receptor I  MSSE  multiple self-healing squamous epithelioma  Data merged from RGD:1350588 737654 PROVISIONAL
2016-01-05 TGFBR1  transforming growth factor beta receptor I  TGFBR1  transforming growth factor, beta receptor 1  Symbol and/or name change 5135510 APPROVED