TGFB3 (transforming growth factor beta 3) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: TGFB3 (transforming growth factor beta 3) Homo sapiens
Analyze
Symbol: TGFB3
Name: transforming growth factor beta 3
RGD ID: 735686
HGNC Page HGNC:11769
Description: Enables identical protein binding activity; transforming growth factor beta binding activity; and transforming growth factor beta receptor binding activity. Involved in several processes, including face morphogenesis; positive regulation of cellular component organization; and regulation of gene expression. Located in collagen-containing extracellular matrix and intracellular membrane-bounded organelle. Implicated in Loeys-Dietz syndrome 5; arrhythmogenic right ventricular cardiomyopathy; and arrhythmogenic right ventricular dysplasia 1. Biomarker of colon cancer; colorectal cancer; and pancreatic ductal adenocarcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: arrhythmogenic right ventricular dysplasia 1; ARVD; ARVD1; FLJ16571; LDS5; prepro-transforming growth factor beta-3; RNHF; TGF-beta-3; TGF-beta3; transforming growth factor beta-3; transforming growth factor beta-3 proprotein; transforming growth factor, beta 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381475,958,097 - 75,983,011 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1475,958,097 - 75,983,011 (-)EnsemblGRCh38hg38GRCh38
GRCh371476,424,440 - 76,449,354 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361475,494,195 - 75,517,242 (-)NCBINCBI36Build 36hg18NCBI36
Build 341475,494,194 - 75,517,242NCBI
Celera1456,462,579 - 56,486,236 (-)NCBICelera
Cytogenetic Map14q24.3NCBI
HuRef1456,593,103 - 56,616,766 (-)NCBIHuRef
CHM1_11476,362,235 - 76,385,896 (-)NCBICHM1_1
T2T-CHM13v2.01470,167,287 - 70,192,202 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-noradrenaline  (ISO)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-butoxyethanol  (ISO)
2-methoxyethanol  (ISO)
2-nitrotoluene  (ISO)
3',5'-cyclic AMP  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-nitrophenol  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acrylamide  (ISO)
afimoxifene  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (EXP)
alpha-Zearalanol  (EXP)
AM-251  (EXP)
ammonium chloride  (ISO)
antimycin A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP,ISO)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP,ISO)
bexarotene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
bleomycin A2  (ISO)
Brevetoxin B  (EXP)
bromochloroacetic acid  (ISO)
butyric acid  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (EXP)
cannabidiol  (ISO)
cantharidin  (ISO)
capsaicin  (ISO)
carbon nanotube  (ISO)
chlorthalidone  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
cordycepin  (EXP)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
DDT  (ISO)
decabromodiphenyl ether  (ISO)
deguelin  (EXP)
deoxynivalenol  (ISO)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diazepam  (EXP)
diazinon  (EXP,ISO)
dibutyl phthalate  (ISO)
Didecyldimethylammonium  (ISO)
dieldrin  (ISO)
diethylstilbestrol  (EXP)
dioxygen  (ISO)
diuron  (ISO)
endosulfan  (ISO)
erythromycin estolate  (ISO)
ethanol  (ISO)
ethylparaben  (EXP)
fenamidone  (ISO)
fenbuconazole  (EXP)
fenpyroximate  (EXP)
folic acid  (ISO)
fulvestrant  (EXP)
furan  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glycidol  (ISO)
GW 4064  (EXP)
hexachlorobenzene  (ISO)
hydrogen peroxide  (EXP)
hydroquinone O-beta-D-glucopyranoside  (EXP)
indirubin-3'-monoxime  (ISO)
indole-3-methanol  (ISO)
indometacin  (EXP,ISO)
ketoconazole  (ISO)
L-ascorbic acid  (EXP)
L-methionine  (ISO)
levamisole  (ISO)
linuron  (ISO)
lipopolysaccharide  (EXP,ISO)
m-xylene  (ISO)
maneb  (ISO)
manganese(II) chloride  (ISO)
medroxyprogesterone acetate  (EXP)
microcystin-LR  (ISO)
Muraglitazar  (ISO)
N-acetyl-L-cysteine  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
N-Nitrosopyrrolidine  (EXP)
naproxen  (ISO)
nickel dichloride  (ISO)
nitrofen  (ISO)
Nonylphenol  (EXP)
obeticholic acid  (EXP)
ormeloxifene  (ISO)
ouabain  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
paricalcitol  (EXP)
perfluorooctanoic acid  (ISO)
phenylephrine  (ISO)
phenytoin  (EXP)
phosphorus atom  (EXP)
phosphorus(.)  (EXP)
picoxystrobin  (EXP)
prazosin  (ISO)
progesterone  (EXP)
prostaglandin E2  (ISO)
pyrimidifen  (EXP)
quercetin  (ISO)
raloxifene  (EXP)
Rebamipide  (ISO)
resveratrol  (EXP)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (EXP,ISO)
sulforaphane  (EXP)
sumatriptan  (ISO)
sunitinib  (EXP)
tebufenpyrad  (EXP)
temozolomide  (EXP)
Tesaglitazar  (ISO)
testosterone  (EXP)
tetrachloromethane  (ISO)
thifluzamide  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
tranilast  (ISO)
triphenyl phosphate  (ISO)
troglitazone  (ISO)
urethane  (ISO)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
animal organ morphogenesis  (ISO)
cell population proliferation  (ISO)
cell-cell junction organization  (IDA)
cellular response to growth factor stimulus  (ISO)
detection of hypoxia  (IDA)
digestive tract development  (IEA,ISO)
embryonic neurocranium morphogenesis  (IEA,ISO)
epithelial cell proliferation  (ISO)
face morphogenesis  (IMP)
female pregnancy  (IEA,ISO)
filopodium assembly  (ISO)
frontal suture morphogenesis  (IEA,ISO)
gene expression  (ISO)
in utero embryonic development  (ISO,ISS)
inner ear development  (IEA,ISO)
lung alveolus development  (ISS)
mammary gland development  (ISO,ISS)
negative regulation of cell population proliferation  (IEA,IMP,ISO)
negative regulation of epithelial cell proliferation  (ISO)
negative regulation of macrophage cytokine production  (IDA)
negative regulation of neuron apoptotic process  (ISO,ISS)
negative regulation of transforming growth factor beta receptor signaling pathway  (IEA,ISO)
negative regulation of vascular associated smooth muscle cell proliferation  (IDA)
neuron apoptotic process  (ISO)
odontogenesis  (NAS)
positive regulation of apoptotic process  (IEA,ISO,ISS)
positive regulation of cell division  (IEA)
positive regulation of cell population proliferation  (IMP)
positive regulation of collagen biosynthetic process  (IMP)
positive regulation of DNA-templated transcription  (IDA,ISS)
positive regulation of epithelial to mesenchymal transition  (IDA,ISS)
positive regulation of filopodium assembly  (ISO,ISS)
positive regulation of gene expression  (ISO)
positive regulation of MAPK cascade  (IEA,ISO)
positive regulation of protein secretion  (IDA)
positive regulation of SMAD protein signal transduction  (ISS)
positive regulation of stress fiber assembly  (IDA)
positive regulation of tight junction disassembly  (IDA)
positive regulation of transcription by RNA polymerase II  (ISO,ISS)
regulation of cell population proliferation  (IBA,IEA)
regulation of epithelial to mesenchymal transition involved in endocardial cushion formation  (ISS)
response to estrogen  (IEA,ISO)
response to hypoxia  (IDA,IEA,ISO)
response to laminar fluid shear stress  (IEA,ISO)
response to progesterone  (IDA)
roof of mouth development  (ISO)
salivary gland morphogenesis  (IEP)
secondary palate development  (ISS)
signal transduction  (IEA)
transforming growth factor beta receptor signaling pathway  (IBA,IDA,IEA,ISS)
uterine wall breakdown  (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)
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)
Bifid uvula  (IAGP)
Bilateral coxa valga  (IAGP)
Blue sclerae  (IAGP)
Brachycephaly  (IAGP)
Broad face  (IAGP)
Bruising susceptibility  (IAGP)
Camptodactyly of finger  (IAGP)
Cardiac arrest  (IAGP)
Cardiomegaly  (IAGP)
Cardiomyopathy  (IAGP)
Carotid artery dilatation  (IAGP)
Cervical spine instability  (IAGP)
Chest pain  (IAGP)
Cleft palate  (IAGP)
Cleft soft palate  (IAGP)
Congenital finger flexion contractures  (IAGP)
Coronary artery atherosclerosis  (IAGP)
Craniosynostosis  (IAGP)
Cutis marmorata  (IAGP)
Decreased muscle mass  (IAGP)
Delayed gross motor development  (IAGP)
Descending aortic dissection  (IAGP)
Descending thoracic aorta aneurysm  (IAGP)
Dilatation of the cerebral artery  (IAGP)
Dolichocephaly  (IAGP)
Downslanted palpebral fissures  (IAGP)
Dural ectasia  (IAGP)
Eosinophilic infiltration of the esophagus  (IAGP)
Exertional dyspnea  (IAGP)
Failure to thrive in infancy  (IAGP)
Flexion contracture  (IAGP)
Flexion contracture of toe  (IAGP)
Growth delay  (IAGP)
Hemoptysis  (IAGP)
Hiatus hernia  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypotonia  (IAGP)
Hypovolemia  (IAGP)
Increased arm span  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability, mild  (IAGP)
Ischemic stroke  (IAGP)
Joint dislocation  (IAGP)
Joint hypermobility  (IAGP)
Juvenile onset  (IAGP)
Kyphoscoliosis  (IAGP)
Left ventricular noncompaction  (IAGP)
Long face  (IAGP)
Long palpebral fissure  (IAGP)
Malar flattening  (IAGP)
Micrognathia  (IAGP)
Midface retrusion  (IAGP)
Mitral regurgitation  (IAGP)
Mucoid extracellular matrix accumulation  (IAGP)
Neonatal hypotonia  (IAGP)
Nevus flammeus  (IAGP)
Orofacial cleft  (IAGP)
Osteoarthritis  (IAGP)
Overfolded helix  (IAGP)
Overgrowth  (IAGP)
Overhanging nasal tip  (IAGP)
Paroxysmal dyspnea  (IAGP)
Patent ductus arteriosus  (IAGP)
Patent foramen ovale  (IAGP)
Pectus carinatum  (IAGP)
Pectus excavatum  (IAGP)
Peripheral arterial stenosis  (IAGP)
Pes planus  (IAGP)
Pneumothorax  (IAGP)
Premature ventricular contraction  (IAGP)
Prolonged QT interval  (IAGP)
Prominent nasal bridge  (IAGP)
Proptosis  (IAGP)
Ptosis  (IAGP)
Reduced subcutaneous adipose tissue  (IAGP)
Retrognathia  (IAGP)
Right ventricular cardiomyopathy  (IAGP)
Scapular winging  (IAGP)
Scoliosis  (IAGP)
Short stature  (IAGP)
Smooth philtrum  (IAGP)
Spondylolisthesis  (IAGP)
Striae distensae  (IAGP)
Stroke  (IAGP)
Subarachnoid hemorrhage  (IAGP)
Sudden cardiac death  (IAGP)
Talipes equinovarus  (IAGP)
Tall stature  (IAGP)
Tented upper lip vermilion  (IAGP)
Thin skin  (IAGP)
Transient ischemic attack  (IAGP)
Uterine rupture  (IAGP)
Vascular dilatation  (IAGP)
Ventricular arrhythmia  (IAGP)
Ventricular septal defect  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Transforming growth factor-beta induces cellular injury in experimental diabetic neuropathy. Anjaneyulu M, etal., Exp Neurol. 2008 Jun;211(2):469-79. Epub 2008 Mar 2.
2. Growth associated proteins in tumor cells and stroma related to disease progression of colon cancer accounting for tumor tissue PGE2 content. Cahlin C, etal., Int J Oncol. 2008 Apr;32(4):909-18.
3. Involvement of protein kinase C-dependent mitogen-activated protein kinase p44/42 signaling pathway for cross-talk between estradiol and transforming growth factor-beta3 in increasing basic fibroblast growth factor in folliculostellate cells. Chaturvedi K and Sarkar DK, Endocrinology. 2004 Feb;145(2):706-15. Epub 2003 Nov 6.
4. Enhanced expression of transforming growth factor beta isoforms in pancreatic cancer correlates with decreased survival. Friess H, etal., Gastroenterology. 1993 Dec;105(6):1846-56. doi: 10.1016/0016-5085(93)91084-u.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Zhonghua xin xue guan bing za zhi Hu BC, etal., Zhonghua Xin Xue Guan Bing Za Zhi. 2005 Feb;33(2):127-31.
7. 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.
8. Both high intratumoral microvessel density determined using CD105 antibody and elevated plasma levels of CD105 in colorectal cancer patients correlate with poor prognosis. Li C, etal., Br J Cancer. 2003 May 6;88(9):1424-31.
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. Transforming growth factor-beta 2 and TGF-beta 3 regulate fetal rat cranial suture morphogenesis by regulating rates of cell proliferation and apoptosis. Opperman LA, etal., Dev Dyn. 2000 Oct;219(2):237-47.
11. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
12. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
13. The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. Rampazzo A, etal., Hum Mol Genet. 1994 Jun;3(6):959-62.
14. Transforming growth factor-beta stimulates vascular endothelial growth factor production by folliculostellate pituitary cells. Renner U, etal., Endocrinology 2002 Oct;143(10):3759-65.
15. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
16. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
17. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
18. Temporal and spatial expression of Pax9 and Sonic hedgehog during development of normal mouse palates and cleft palates in TGF-beta3 null embryos. Sasaki Y, etal., Arch Oral Biol. 2007 Mar;52(3):260-7. Epub 2006 Nov 13.
19. Mechanisms of TGF-beta signaling from cell membrane to the nucleus. Shi Y and Massague J, Cell. 2003 Jun 13;113(6):685-700.
20. Genetic association studies of cleft lip and/or palate with hypodontia outside the cleft region. Slayton RL, etal., Cleft Palate Craniofac J. 2003 May;40(3):274-9.
21. MSX1 and TGFB3 contribute to clefting in South America. Vieira AR, etal., J Dent Res. 2003 Apr;82(4):289-92.
22. Differential cytokine activity and morphology during wound healing in the neonatal and adult rat skin. Wagner W and Wehrmann M, J Cell Mol Med. 2007 Nov-Dec;11(6):1342-51.
23. 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.
24. 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.
Additional References at PubMed
PMID:1326540   PMID:1333888   PMID:1875922   PMID:3164476   PMID:3208746   PMID:3226728   PMID:3457014   PMID:7493022   PMID:7796607   PMID:7852346   PMID:7962292   PMID:8093006  
PMID:8106553   PMID:8167376   PMID:8819159   PMID:8886879   PMID:9140123   PMID:9250163   PMID:9683588   PMID:9872992   PMID:10187774   PMID:10457363   PMID:10930463   PMID:11157754  
PMID:11158066   PMID:11166150   PMID:11199370   PMID:11341298   PMID:11374028   PMID:11382746   PMID:11384957   PMID:11488419   PMID:11754469   PMID:11776328   PMID:11821050   PMID:11850637  
PMID:11969342   PMID:12021923   PMID:12062452   PMID:12168782   PMID:12171249   PMID:12221089   PMID:12358597   PMID:12410804   PMID:12432546   PMID:12477932   PMID:12489185   PMID:12508121  
PMID:12607775   PMID:12652527   PMID:12729750   PMID:12772773   PMID:12911534   PMID:14659070   PMID:14679171   PMID:14702039   PMID:15017149   PMID:15146197   PMID:15155569   PMID:15247411  
PMID:15639475   PMID:15896309   PMID:16043141   PMID:16210002   PMID:16247549   PMID:16344560   PMID:16549496   PMID:16778279   PMID:16781676   PMID:16930538   PMID:17225872   PMID:17272867  
PMID:17401695   PMID:17671384   PMID:17673689   PMID:17827158   PMID:18039789   PMID:18049952   PMID:18078367   PMID:18080134   PMID:18156205   PMID:18174230   PMID:18243111   PMID:18293167  
PMID:18480962   PMID:18498721   PMID:18505915   PMID:18698632   PMID:18718461   PMID:18799618   PMID:18950289   PMID:18976975   PMID:19062040   PMID:19073914   PMID:19107876   PMID:19161338  
PMID:19212830   PMID:19231643   PMID:19322201   PMID:19328471   PMID:19336475   PMID:19396528   PMID:19432813   PMID:19453261   PMID:19628198   PMID:19651533   PMID:19656717   PMID:19700613  
PMID:19787410   PMID:19897194   PMID:19937272   PMID:20082468   PMID:20083094   PMID:20142847   PMID:20170386   PMID:20237132   PMID:20237496   PMID:20301299   PMID:20301310   PMID:20301312  
PMID:20407224   PMID:20408761   PMID:20485444   PMID:20497023   PMID:20572854   PMID:20587546   PMID:20613589   PMID:20628624   PMID:20634891   PMID:20672350   PMID:20734064   PMID:20736064  
PMID:20875417   PMID:20945347   PMID:21041550   PMID:21084396   PMID:21177256   PMID:21305699   PMID:21352603   PMID:21411746   PMID:21423151   PMID:21611961   PMID:21666950   PMID:21823016  
PMID:21873635   PMID:21988832   PMID:22143699   PMID:22191848   PMID:22266274   PMID:22369552   PMID:22409215   PMID:22464821   PMID:22674391   PMID:22706080   PMID:22795539   PMID:22796605  
PMID:22880017   PMID:23023602   PMID:23122986   PMID:23824657   PMID:23968981   PMID:24053560   PMID:24056369   PMID:24306208   PMID:24402195   PMID:24438909   PMID:24551192   PMID:24635173  
PMID:24825427   PMID:24907658   PMID:25257729   PMID:25307808   PMID:25383667   PMID:25418724   PMID:25431043   PMID:25633651   PMID:25690385   PMID:25695838   PMID:25742744   PMID:25743244  
PMID:25753754   PMID:25835445   PMID:25858630   PMID:26151095   PMID:26184463   PMID:26298390   PMID:26315405   PMID:26555637   PMID:26612435   PMID:26653761   PMID:26857387   PMID:26866713  
PMID:27058373   PMID:27149081   PMID:27356075   PMID:27743697   PMID:27878265   PMID:28288584   PMID:28364787   PMID:29061379   PMID:29065449   PMID:29161966   PMID:29320969   PMID:29456027  
PMID:29474521   PMID:29738289   PMID:29795291   PMID:29856065   PMID:30021884   PMID:30053437   PMID:30071700   PMID:30145984   PMID:30167815   PMID:30345304   PMID:30367890   PMID:30431382  
PMID:30642980   PMID:30672442   PMID:30983140   PMID:30991228   PMID:31058363   PMID:31211692   PMID:31328883   PMID:31436806   PMID:31470122   PMID:31837543   PMID:31843095   PMID:31898322  
PMID:32022420   PMID:32281291   PMID:32293494   PMID:32552203   PMID:32620316   PMID:32782154   PMID:32854680   PMID:33287755   PMID:33565061   PMID:33728344   PMID:34057989   PMID:34838812  
PMID:35910794   PMID:36006052   PMID:36139071   PMID:36210718   PMID:36293524   PMID:36370078   PMID:37246056   PMID:37371094  


Genomics

Comparative Map Data
TGFB3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381475,958,097 - 75,983,011 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1475,958,097 - 75,983,011 (-)EnsemblGRCh38hg38GRCh38
GRCh371476,424,440 - 76,449,354 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361475,494,195 - 75,517,242 (-)NCBINCBI36Build 36hg18NCBI36
Build 341475,494,194 - 75,517,242NCBI
Celera1456,462,579 - 56,486,236 (-)NCBICelera
Cytogenetic Map14q24.3NCBI
HuRef1456,593,103 - 56,616,766 (-)NCBIHuRef
CHM1_11476,362,235 - 76,385,896 (-)NCBICHM1_1
T2T-CHM13v2.01470,167,287 - 70,192,202 (-)NCBIT2T-CHM13v2.0
Tgfb3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391286,103,517 - 86,125,815 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1286,103,519 - 86,125,815 (-)EnsemblGRCm39 Ensembl
GRCm381286,056,743 - 86,079,041 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1286,056,745 - 86,079,041 (-)EnsemblGRCm38mm10GRCm38
MGSCv371287,397,693 - 87,419,991 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361286,945,847 - 86,967,637 (-)NCBIMGSCv36mm8
Celera1287,516,891 - 87,539,154 (-)NCBICelera
Cytogenetic Map12D2NCBI
cM Map1240.09NCBI
Tgfb3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.26105,704,058 - 105,726,661 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6105,704,236 - 105,726,564 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6105,874,132 - 105,895,952 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06106,173,012 - 106,194,830 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06105,542,654 - 105,564,473 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06109,913,757 - 109,936,217 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6109,913,757 - 109,935,533 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06119,222,052 - 119,244,512 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46110,173,443 - 110,195,215 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.16110,176,974 - 110,198,746 (-)NCBI
Celera6103,530,785 - 103,552,563 (-)NCBICelera
RH 3.4 Map6742.1RGD
Cytogenetic Map6q31NCBI
Tgfb3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543829,415 - 55,180 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543833,129 - 55,180 (-)NCBIChiLan1.0ChiLan1.0
TGFB3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan11476,263,873 - 76,289,264 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01456,516,697 - 56,542,097 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11475,359,505 - 75,382,412 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1475,359,505 - 75,382,412 (-)Ensemblpanpan1.1panPan2
TGFB3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1848,920,874 - 48,946,037 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl848,923,423 - 48,945,816 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha848,603,511 - 48,629,028 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0849,145,129 - 49,170,643 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl849,147,212 - 49,170,366 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1848,817,670 - 48,843,148 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0848,839,598 - 48,865,116 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0849,235,714 - 49,261,227 (-)NCBIUU_Cfam_GSD_1.0
Tgfb3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864027,060,257 - 27,083,429 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364884,986,748 - 5,008,496 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364884,986,712 - 5,008,728 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TGFB3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl799,133,879 - 99,162,232 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1799,133,873 - 99,162,239 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27105,178,639 - 105,208,968 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TGFB3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12453,203,593 - 53,227,483 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2453,203,301 - 53,227,325 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605341,419,765 - 41,443,760 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tgfb3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473425,716,972 - 25,739,199 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473425,717,011 - 25,739,942 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TGFB3
473 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003239.5(TGFB3):c.989G>A (p.Trp330Ter) single nucleotide variant Rienhoff syndrome [RCV002527951] Chr14:75961014 [GRCh38]
Chr14:76427357 [GRCh37]
Chr14:14q24.3
pathogenic
NM_003239.5(TGFB3):c.389A>G (p.Lys130Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002367963]|Rienhoff syndrome [RCV002527945]|not provided [RCV002279362] Chr14:75971682 [GRCh38]
Chr14:76438025 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.221A>G (p.Asn74Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003302889]|Rienhoff syndrome [RCV002526751] Chr14:75980673 [GRCh38]
Chr14:76447016 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.-30G>A single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV000013292]|Arrhythmogenic right ventricular dysplasia 1 [RCV002504779]|Rienhoff syndrome [RCV002513008]|not provided [RCV002464063] Chr14:75980923 [GRCh38]
Chr14:76447266 [GRCh37]
Chr14:14q24.3
pathogenic|uncertain significance
NM_003239.5(TGFB3):c.*495C>T single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV000013293]|Rienhoff syndrome [RCV002513009] Chr14:75958692 [GRCh38]
Chr14:76425035 [GRCh37]
Chr14:14q24.3
pathogenic|uncertain significance
NM_003239.5(TGFB3):c.806A>G (p.Lys269Arg) single nucleotide variant Rienhoff syndrome [RCV002526756] Chr14:75963436 [GRCh38]
Chr14:76429779 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs) duplication Familial thoracic aortic aneurysm and aortic dissection [RCV002314910]|not provided [RCV000521380] Chr14:75963348..75963349 [GRCh38]
Chr14:76429691..76429692 [GRCh37]
Chr14:14q24.3
likely pathogenic|uncertain significance
NM_003239.5(TGFB3):c.1226G>A (p.Cys409Tyr) single nucleotide variant Rienhoff syndrome [RCV000077765] Chr14:75959200 [GRCh38]
Chr14:76425543 [GRCh37]
Chr14:14q24.3
pathogenic
GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1 copy number loss See cases [RCV000051548] Chr14:73877072..78042422 [GRCh38]
Chr14:74343775..78508765 [GRCh37]
Chr14:73413528..77578518 [NCBI36]
Chr14:14q24.3
pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1 copy number loss See cases [RCV000051549] Chr14:75489052..79610332 [GRCh38]
Chr14:75955395..80076675 [GRCh37]
Chr14:75025148..79146428 [NCBI36]
Chr14:14q24.3-31.1
pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2
pathogenic
GRCh38/hg38 14q24.3(chr14:75489052-75967965)x3 copy number gain See cases [RCV000052084] Chr14:75489052..75967965 [GRCh38]
Chr14:75955395..76434308 [GRCh37]
Chr14:75025148..75504061 [NCBI36]
Chr14:14q24.3
uncertain significance
NM_003239.3(TGFB3):c.376G>A (p.Gly126Arg) single nucleotide variant Malignant melanoma [RCV000062792] Chr14:75971695 [GRCh38]
Chr14:76438038 [GRCh37]
Chr14:75507791 [NCBI36]
Chr14:14q24.3
not provided
GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582) deletion Intellectual disability, mild [RCV000190520] Chr14:73152115..77698582 [GRCh37]
Chr14:14q24.2-24.3
pathogenic|likely pathogenic
NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln) single nucleotide variant Rienhoff syndrome [RCV000133467]|not provided [RCV000417684] Chr14:75963343 [GRCh38]
Chr14:76429686 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic
NM_003239.5(TGFB3):c.946T>C (p.Cys316Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002447302]|Rienhoff syndrome [RCV002544645] Chr14:75961057 [GRCh38]
Chr14:76427400 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.559G>A (p.Gly187Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV001262531]|Familial thoracic aortic aneurysm and aortic dissection [RCV002345587]|Rienhoff syndrome [RCV002515260]|not provided [RCV000172111] Chr14:75971213 [GRCh38]
Chr14:76437556 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.487C>T (p.Arg163Trp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002478553]|Familial thoracic aortic aneurysm and aortic dissection [RCV002336410]|Rienhoff syndrome [RCV002517659]|not provided [RCV000172112]|not specified [RCV000412926] Chr14:75971584 [GRCh38]
Chr14:76437927 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000590908]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171232]|Hypertrophic cardiomyopathy [RCV000852702]|Left ventricular noncompaction [RCV000624174]|Long QT syndrome [RCV003318362]|Rienhoff syndrome [RCV002516570]|not provided [RCV000172592]|not specified [RCV001844066] Chr14:75980601 [GRCh38]
Chr14:76446944 [GRCh37]
Chr14:14q24.3
benign|likely benign|uncertain significance
GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1 copy number loss See cases [RCV000134154] Chr14:69562099..81975384 [GRCh38]
Chr14:70028816..82441728 [GRCh37]
Chr14:69098569..81511481 [NCBI36]
Chr14:14q24.1-31.1
pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q24.3(chr14:74986195-76399258)x1 copy number loss See cases [RCV000137114] Chr14:74986195..76399258 [GRCh38]
Chr14:75452898..76865601 [GRCh37]
Chr14:74522651..75935354 [NCBI36]
Chr14:14q24.3
uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1 copy number loss See cases [RCV000143265] Chr14:73343213..78835059 [GRCh38]
Chr14:73809921..79301402 [GRCh37]
Chr14:72879674..78371155 [NCBI36]
Chr14:14q24.3-31.1
pathogenic|likely pathogenic
NM_003239.5(TGFB3):c.*513A>G single nucleotide variant Premature ventricular contraction [RCV000157515] Chr14:75958674 [GRCh38]
Chr14:76425017 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.754+2T>C single nucleotide variant Rienhoff syndrome [RCV000185629] Chr14:75965586 [GRCh38]
Chr14:76431929 [GRCh37]
Chr14:14q24.3
pathogenic
NM_003239.5(TGFB3):c.704del (p.Asn235fs) deletion Rienhoff syndrome [RCV000185631] Chr14:75965638 [GRCh38]
Chr14:76431981 [GRCh37]
Chr14:14q24.3
pathogenic
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001171230]|Rienhoff syndrome [RCV000185630]|not provided [RCV000332014] Chr14:75963344 [GRCh38]
Chr14:76429687 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic
NM_003239.5(TGFB3):c.787G>C (p.Asp263His) single nucleotide variant Hypertrophic cardiomyopathy [RCV000498355]|Rienhoff syndrome [RCV000185632] Chr14:75963455 [GRCh38]
Chr14:76429798 [GRCh37]
Chr14:14q24.3
pathogenic|uncertain significance
NM_003239.5(TGFB3):c.88T>C (p.Leu30=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315040]|Rienhoff syndrome [RCV002526757]|not provided [RCV000611099]|not specified [RCV003317281] Chr14:75980806 [GRCh38]
Chr14:76447149 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_003239.5(TGFB3):c.521T>A (p.Leu174His) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000208388]|Rienhoff syndrome [RCV002517407]|not provided [RCV002223817] Chr14:75971251 [GRCh38]
Chr14:76437594 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.106A>T (p.Lys36Ter) single nucleotide variant not provided [RCV000579262] Chr14:75980788 [GRCh38]
Chr14:76447131 [GRCh37]
Chr14:14q24.3
pathogenic
NM_003239.5(TGFB3):c.420G>A (p.Glu140=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315701]|Loeys-Dietz syndrome 4 [RCV001402725] Chr14:75971651 [GRCh38]
Chr14:76437994 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.34C>T (p.Leu12=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311068]|Rienhoff syndrome [RCV002516318]|not provided [RCV001697231] Chr14:75980860 [GRCh38]
Chr14:76447203 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_003239.5(TGFB3):c.82A>C (p.Thr28Pro) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002500780]|Familial thoracic aortic aneurysm and aortic dissection [RCV002429111]|Rienhoff syndrome [RCV002518335]|not provided [RCV001582773] Chr14:75980812 [GRCh38]
Chr14:76447155 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1122C>G (p.Ala374=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001171228]|Rienhoff syndrome [RCV002516316]|not provided [RCV001812644]|not specified [RCV000430297] Chr14:75959304 [GRCh38]
Chr14:76425647 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_003239.5(TGFB3):c.873G>A (p.Pro291=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311347]|Rienhoff syndrome [RCV002518336]|not provided [RCV001579502]|not specified [RCV000435962] Chr14:75963369 [GRCh38]
Chr14:76429712 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_003239.5(TGFB3):c.357A>G (p.Glu119=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002450689]|not provided [RCV000869295] Chr14:75971714 [GRCh38]
Chr14:76438057 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.179C>T (p.Thr60Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002500779]|Familial thoracic aortic aneurysm and aortic dissection [RCV002399823]|not provided [RCV000867812] Chr14:75980715 [GRCh38]
Chr14:76447058 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.744C>A (p.Ile248=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310823]|Rienhoff syndrome [RCV002518334]|not provided [RCV001579942]|not specified [RCV000435872] Chr14:75965598 [GRCh38]
Chr14:76431941 [GRCh37]
Chr14:14q24.3
benign|likely benign|uncertain significance
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001171231]|Rienhoff syndrome [RCV000660313]|not provided [RCV000489572]|not specified [RCV001193759] Chr14:75971659 [GRCh38]
Chr14:76438002 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_003239.5(TGFB3):c.859C>T (p.Arg287Trp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002485958]|Familial thoracic aortic aneurysm and aortic dissection [RCV002442564]|Rienhoff syndrome [RCV002533797]|not provided [RCV000756774]|not specified [RCV001269175] Chr14:75963383 [GRCh38]
Chr14:76429726 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.948T>C (p.Cys316=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003159944]|Rienhoff syndrome [RCV002527949]|not provided [RCV000995211] Chr14:75961055 [GRCh38]
Chr14:76427398 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002490907]|Arrhythmogenic right ventricular dysplasia 1 [RCV003227776]|Familial thoracic aortic aneurysm and aortic dissection [RCV002329237]|Rienhoff syndrome [RCV002525148]|not provided [RCV000520235] Chr14:75959257 [GRCh38]
Chr14:76425600 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.782G>C (p.Arg261Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001798926] Chr14:75963460 [GRCh38]
Chr14:76429803 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.323T>C (p.Phe108Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315245] Chr14:75980571 [GRCh38]
Chr14:76446914 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.516+4A>T single nucleotide variant Rienhoff syndrome [RCV002527946] Chr14:75971551 [GRCh38]
Chr14:76437894 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.353-1G>C single nucleotide variant Rienhoff syndrome [RCV002527944] Chr14:75971719 [GRCh38]
Chr14:76438062 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.698A>T (p.Gln233Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002310948] Chr14:75965644 [GRCh38]
Chr14:76431987 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.4(TGFB3):c.*830G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000302684] Chr14:75958357 [GRCh38]
Chr14:76424700 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.*696T>C single nucleotide variant not provided [RCV001691014] Chr14:75958491 [GRCh38]
Chr14:76424834 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_003239.5(TGFB3):c.294G>A (p.Ser98=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002502230]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311416]|Rienhoff syndrome [RCV002520926]|not provided [RCV001311367] Chr14:75980600 [GRCh38]
Chr14:76446943 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_003239.5(TGFB3):c.*185C>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000274594] Chr14:75959002 [GRCh38]
Chr14:76425345 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.646+13T>C single nucleotide variant Rienhoff syndrome [RCV002522335]|not provided [RCV000788271]|not specified [RCV000606710] Chr14:75971113 [GRCh38]
Chr14:76437456 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_003239.5(TGFB3):c.*496G>A single nucleotide variant not provided [RCV001553357] Chr14:75958691 [GRCh38]
Chr14:76425034 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.*255C>T single nucleotide variant not provided [RCV001559087] Chr14:75958932 [GRCh38]
Chr14:76425275 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.-536del deletion Arrhythmogenic right ventricular cardiomyopathy [RCV000270390]|Arrhythmogenic right ventricular dysplasia 1 [RCV002487390] Chr14:75981429 [GRCh38]
Chr14:76447772 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1081-14A>G single nucleotide variant Rienhoff syndrome [RCV002520925]|not specified [RCV000616165] Chr14:75959359 [GRCh38]
Chr14:76425702 [GRCh37]
Chr14:14q24.3
benign|likely benign|uncertain significance
NM_003239.5(TGFB3):c.*666A>G single nucleotide variant not provided [RCV001639960] Chr14:75958521 [GRCh38]
Chr14:76424864 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_003239.5(TGFB3):c.-536dup duplication Arrhythmogenic right ventricular cardiomyopathy [RCV000364961] Chr14:75981428..75981429 [GRCh38]
Chr14:76447771..76447772 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.-440CTT[2] microsatellite Arrhythmogenic right ventricular cardiomyopathy [RCV000310259]|Arrhythmogenic right ventricular dysplasia 1 [RCV002502231] Chr14:75981325..75981327 [GRCh38]
Chr14:76447668..76447670 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.*824T>C single nucleotide variant not provided [RCV001593961] Chr14:75958363 [GRCh38]
Chr14:76424706 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.4(TGFB3):c.-756T>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000385419] Chr14:75981649 [GRCh38]
Chr14:76447992 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.517-6C>G single nucleotide variant Rienhoff syndrome [RCV002522336] Chr14:75971261 [GRCh38]
Chr14:76437604 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_003239.5(TGFB3):c.1230A>G (p.Lys410=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002365368]|Rienhoff syndrome [RCV002520924] Chr14:75959196 [GRCh38]
Chr14:76425539 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_003239.5(TGFB3):c.730G>A (p.Glu244Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002314844]|Rienhoff syndrome [RCV002526029]|not provided [RCV000490126] Chr14:75965612 [GRCh38]
Chr14:76431955 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.4(TGFB3):c.-707C>G single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000330856] Chr14:75981600 [GRCh38]
Chr14:76447943 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.4(TGFB3):c.*120C>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000332121] Chr14:75959067 [GRCh38]
Chr14:76425410 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.-543T>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000325439]|Cranioectodermal dysplasia [RCV000378353] Chr14:75981436 [GRCh38]
Chr14:76447779 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.1151A>G (p.Glu384Gly) single nucleotide variant Rienhoff syndrome [RCV002526748]|not provided [RCV001764630] Chr14:75959275 [GRCh38]
Chr14:76425618 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.4(TGFB3):c.-214G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000403639] Chr14:75981107 [GRCh38]
Chr14:76447450 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.4(TGFB3):c.*312C>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000319202] Chr14:75958875 [GRCh38]
Chr14:76425218 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1179G>A (p.Gly393=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002341485]|Rienhoff syndrome [RCV002526749] Chr14:75959247 [GRCh38]
Chr14:76425590 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.4(TGFB3):c.353-14G>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000334973] Chr14:75971732 [GRCh38]
Chr14:76438075 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.498G>A (p.Gln166=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002342941] Chr14:75971573 [GRCh38]
Chr14:76437916 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_003239.5(TGFB3):c.339G>A (p.Gly113=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002450872]|Rienhoff syndrome [RCV002522337] Chr14:75980555 [GRCh38]
Chr14:76446898 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_003239.5(TGFB3):c.-547dup duplication Arrhythmogenic right ventricular cardiomyopathy [RCV000370729]|Arrhythmogenic right ventricular dysplasia 1 [RCV002494986] Chr14:75981439..75981440 [GRCh38]
Chr14:76447782..76447783 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.*505G>A single nucleotide variant not provided [RCV002286101] Chr14:75958682 [GRCh38]
Chr14:76425025 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.-614C>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000276178]|Cranioectodermal dysplasia [RCV000267554]|not provided [RCV000827670] Chr14:75981507 [GRCh38]
Chr14:76447850 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_003239.4(TGFB3):c.*1065C>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000392104] Chr14:75958122 [GRCh38]
Chr14:76424465 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1195G>T (p.Glu399Ter) single nucleotide variant Rienhoff syndrome [RCV001809469]|not provided [RCV000522931] Chr14:75959231 [GRCh38]
Chr14:76425574 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.581G>C (p.Arg194Pro) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315256] Chr14:75971191 [GRCh38]
Chr14:76437534 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.4(TGFB3):c.-178C>T single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000359138] Chr14:75981071 [GRCh38]
Chr14:76447414 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.-10C>G single nucleotide variant not specified [RCV000600873] Chr14:75980903 [GRCh38]
Chr14:76447246 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.505G>A (p.Glu169Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315252]|Rienhoff syndrome [RCV002531856]|not provided [RCV003317299] Chr14:75971566 [GRCh38]
Chr14:76437909 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.289G>A (p.Glu97Lys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003343929]|Rienhoff syndrome [RCV002530928]|not provided [RCV000587920] Chr14:75980605 [GRCh38]
Chr14:76446948 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.934GAG[1] (p.Glu313del) microsatellite Rienhoff syndrome [RCV002526758] Chr14:75961064..75961066 [GRCh38]
Chr14:76427407..76427409 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.973C>T (p.Arg325Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770646]|Rienhoff syndrome [RCV002527950]|not provided [RCV001008666] Chr14:75961030 [GRCh38]
Chr14:76427373 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic|uncertain significance
NM_003239.5(TGFB3):c.611T>C (p.Val204Ala) single nucleotide variant Rienhoff syndrome [RCV002527947] Chr14:75971161 [GRCh38]
Chr14:76437504 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.-31C>T single nucleotide variant not provided [RCV000599592] Chr14:75980924 [GRCh38]
Chr14:76447267 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.781C>T (p.Arg261Cys) single nucleotide variant Rienhoff syndrome [RCV002524645]|not specified [RCV000414511] Chr14:75963461 [GRCh38]
Chr14:76429804 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1186C>T (p.Pro396Ser) single nucleotide variant Rienhoff syndrome [RCV002526750] Chr14:75959240 [GRCh38]
Chr14:76425583 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1149G>A (p.Leu383=) single nucleotide variant Rienhoff syndrome [RCV002527943] Chr14:75959277 [GRCh38]
Chr14:76425620 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.974G>A (p.Arg325Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001171229]|Rienhoff syndrome [RCV002524644]|not provided [RCV000761886]|not specified [RCV000414018] Chr14:75961029 [GRCh38]
Chr14:76427372 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_003239.5(TGFB3):c.926G>A (p.Arg309His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002374728]|Rienhoff syndrome [RCV002525520]|not provided [RCV000431104] Chr14:75963316 [GRCh38]
Chr14:76429659 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.*9G>A single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770645]|not specified [RCV000421010] Chr14:75959178 [GRCh38]
Chr14:76425521 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_003239.5(TGFB3):c.797G>A (p.Arg266His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313148]|Rienhoff syndrome [RCV002522694]|not specified [RCV000424450] Chr14:75963445 [GRCh38]
Chr14:76429788 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.77C>G (p.Thr26Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002502587]|Rienhoff syndrome [RCV002522667]|not provided [RCV000428232] Chr14:75980817 [GRCh38]
Chr14:76447160 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.11A>G (p.His4Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313147]|Rienhoff syndrome [RCV002525482]|not provided [RCV000428373]|not specified [RCV001358706] Chr14:75980883 [GRCh38]
Chr14:76447226 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.647-12C>G single nucleotide variant Rienhoff syndrome [RCV002522364]|not provided [RCV001810937]|not specified [RCV000432099] Chr14:75965707 [GRCh38]
Chr14:76432050 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_003239.5(TGFB3):c.826C>T (p.Pro276Ser) single nucleotide variant not provided [RCV000425131] Chr14:75963416 [GRCh38]
Chr14:76429759 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.1079C>T (p.Thr360Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002418341]|Rienhoff syndrome [RCV002522714]|not provided [RCV000432914] Chr14:75960924 [GRCh38]
Chr14:76427267 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.558C>T (p.Ile186=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002348234]|Rienhoff syndrome [RCV002522559]|not provided [RCV000458072] Chr14:75971214 [GRCh38]
Chr14:76437557 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.754G>A (p.Gly252Ser) single nucleotide variant not provided [RCV000420017] Chr14:75965588 [GRCh38]
Chr14:76431931 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.517-16T>C single nucleotide variant Rienhoff syndrome [RCV002522632]|not provided [RCV001810941]|not specified [RCV000426208] Chr14:75971271 [GRCh38]
Chr14:76437614 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_003239.5(TGFB3):c.442C>T (p.Arg148Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313125]|Rienhoff syndrome [RCV002522557]|not provided [RCV000436458] Chr14:75971629 [GRCh38]
Chr14:76437972 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic|uncertain significance
NM_003239.5(TGFB3):c.351C>T (p.His117=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313136]|Rienhoff syndrome [RCV002525470]|not specified [RCV000426809] Chr14:75980543 [GRCh38]
Chr14:76446886 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
NM_003239.5(TGFB3):c.504C>T (p.Ile168=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002341110]|Rienhoff syndrome [RCV002526485]|not provided [RCV001584190] Chr14:75971567 [GRCh38]
Chr14:76437910 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.580C>T (p.Arg194Trp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002481451]|Familial thoracic aortic aneurysm and aortic dissection [RCV002356688]|Rienhoff syndrome [RCV002523322]|not provided [RCV003229834] Chr14:75971192 [GRCh38]
Chr14:76437535 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.926+8dup duplication not specified [RCV000483454] Chr14:75963307..75963308 [GRCh38]
Chr14:76429650..76429651 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.488G>A (p.Arg163Gln) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002466510]|Familial thoracic aortic aneurysm and aortic dissection [RCV002339173]|Rienhoff syndrome [RCV002523323]|TGFB3-related condition [RCV003409634]|not provided [RCV000520464] Chr14:75971583 [GRCh38]
Chr14:76437926 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.345G>A (p.Ala115=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001461232] Chr14:75980549 [GRCh38]
Chr14:76446892 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.193G>A (p.Val65Ile) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002411557]|Rienhoff syndrome [RCV002525681]|not provided [RCV001574486] Chr14:75980701 [GRCh38]
Chr14:76447044 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.288C>T (p.Thr96=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002436505]|Rienhoff syndrome [RCV002525677]|not provided [RCV001579657] Chr14:75980606 [GRCh38]
Chr14:76446949 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_003239.5(TGFB3):c.557T>G (p.Ile186Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002348323]|Rienhoff syndrome [RCV003103780]|not provided [RCV000788807] Chr14:75971215 [GRCh38]
Chr14:76437558 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.354C>T (p.Asn118=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002313229]|Rienhoff syndrome [RCV002526484]|not provided [RCV001662444] Chr14:75971717 [GRCh38]
Chr14:76438060 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.1130G>A (p.Cys377Tyr) single nucleotide variant Rienhoff syndrome [RCV002523324] Chr14:75959296 [GRCh38]
Chr14:76425639 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.965T>C (p.Ile322Thr) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV000763946]|Familial thoracic aortic aneurysm and aortic dissection [RCV002374793]|Rienhoff syndrome [RCV002526428]|not provided [RCV003227758] Chr14:75961038 [GRCh38]
Chr14:76427381 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002481450]|Developmental disorder [RCV003126747]|Familial thoracic aortic aneurysm and aortic dissection [RCV002393139]|Rienhoff syndrome [RCV002523321]|not provided [RCV000482373] Chr14:75960969 [GRCh38]
Chr14:76427312 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic
NM_003239.5(TGFB3):c.872C>T (p.Pro291Leu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002496780]|Familial thoracic aortic aneurysm and aortic dissection [RCV002374792]|Rienhoff syndrome [RCV002526427]|not provided [RCV000482159] Chr14:75963370 [GRCh38]
Chr14:76429713 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.97G>A (p.Gly33Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002489064]|Familial thoracic aortic aneurysm and aortic dissection [RCV002311772]|Rienhoff syndrome [RCV002526426]|not provided [RCV002298602] Chr14:75980797 [GRCh38]
Chr14:76447140 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.39C>T (p.Ala13=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770649]|Rienhoff syndrome [RCV002525679]|not provided [RCV001810966]|not specified [RCV000608238] Chr14:75980855 [GRCh38]
Chr14:76447198 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn) single nucleotide variant Cardiomyopathy [RCV000852703]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770648]|Rienhoff syndrome [RCV002525678]|not provided [RCV001696857]|not specified [RCV000497619] Chr14:75980730 [GRCh38]
Chr14:76447073 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003239.5(TGFB3):c.883_884del (p.Gly295fs) deletion Rienhoff syndrome [RCV002526425] Chr14:75963358..75963359 [GRCh38]
Chr14:76429701..76429702 [GRCh37]
Chr14:14q24.3
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_003239.5(TGFB3):c.1020T>A (p.Tyr340Ter) single nucleotide variant not provided [RCV000497766] Chr14:75960983 [GRCh38]
Chr14:76427326 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic
NM_003239.5(TGFB3):c.321dup (p.Phe108fs) duplication Rienhoff syndrome [RCV000509830]|not provided [RCV001269635] Chr14:75980572..75980573 [GRCh38]
Chr14:76446915..76446916 [GRCh37]
Chr14:14q24.3
pathogenic|no classifications from unflagged records
NM_003239.5(TGFB3):c.1143G>T (p.Gln381His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003150243]|not provided [RCV000498453] Chr14:75959283 [GRCh38]
Chr14:76425626 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q24.3(chr14:76082940-78372356)x1 copy number loss See cases [RCV000511668] Chr14:76082940..78372356 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.464G>A (p.Arg155Gln) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV001027806]|Rienhoff syndrome [RCV002533512]|not provided [RCV001568251] Chr14:75971607 [GRCh38]
Chr14:76437950 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1055G>A (p.Arg352His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315246]|Rienhoff syndrome [RCV002532816] Chr14:75960948 [GRCh38]
Chr14:76427291 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q24.3(chr14:76339283-77061858)x4 copy number gain See cases [RCV000510767] Chr14:76339283..77061858 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.797G>T (p.Arg266Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002420540]|Rienhoff syndrome [RCV002526755]|not provided [RCV001731785] Chr14:75963445 [GRCh38]
Chr14:76429788 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.2T>A (p.Met1Lys) single nucleotide variant Rienhoff syndrome [RCV002526752] Chr14:75980892 [GRCh38]
Chr14:76447235 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.916T>C (p.Tyr306His) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000622564]|not provided [RCV001756017] Chr14:75963326 [GRCh38]
Chr14:76429669 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.96C>T (p.Phe32=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311896]|Loeys-Dietz syndrome 4 [RCV001473619]|not specified [RCV000781907] Chr14:75980798 [GRCh38]
Chr14:76447141 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_003239.5(TGFB3):c.504C>G (p.Ile168Met) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315254]|Rienhoff syndrome [RCV002531857]|not provided [RCV000786406] Chr14:75971567 [GRCh38]
Chr14:76437910 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.927-6T>A single nucleotide variant Loeys-Dietz syndrome 4 [RCV000536345] Chr14:75961082 [GRCh38]
Chr14:76427425 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.755-5T>C single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003159943]|Rienhoff syndrome [RCV002527948]|not provided [RCV002225665] Chr14:75963492 [GRCh38]
Chr14:76429835 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_003239.5(TGFB3):c.754+5C>T single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311895]|Rienhoff syndrome [RCV002526754]|not provided [RCV001591303] Chr14:75965583 [GRCh38]
Chr14:76431926 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_003239.5(TGFB3):c.338G>A (p.Gly113Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311968] Chr14:75980556 [GRCh38]
Chr14:76446899 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.927-1G>C single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002060544]|Rienhoff syndrome [RCV000576406] Chr14:75961077 [GRCh38]
Chr14:76427420 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.1203C>G (p.Leu401=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003306640] Chr14:75959223 [GRCh38]
Chr14:76425566 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.10C>T (p.His4Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315243] Chr14:75980884 [GRCh38]
Chr14:76447227 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.471C>G (p.Pro157=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002333984]|Rienhoff syndrome [RCV002529706]|not provided [RCV000877127] Chr14:75971600 [GRCh38]
Chr14:76437943 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs) deletion Arrhythmogenic right ventricular dysplasia 1 [RCV002499009]|Familial thoracic aortic aneurysm and aortic dissection [RCV002315247]|Rienhoff syndrome [RCV002531853] Chr14:75959321..75959324 [GRCh38]
Chr14:76425664..76425667 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic
NM_003239.5(TGFB3):c.732G>A (p.Glu244=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311969] Chr14:75965610 [GRCh38]
Chr14:76431953 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.1108C>G (p.Pro370Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311976] Chr14:75959318 [GRCh38]
Chr14:76425661 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.387C>T (p.Ser129=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311965]|Rienhoff syndrome [RCV002531746] Chr14:75971684 [GRCh38]
Chr14:76438027 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_003239.5(TGFB3):c.1185C>T (p.Thr395=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315244]|Rienhoff syndrome [RCV002532815] Chr14:75959241 [GRCh38]
Chr14:76425584 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.192C>T (p.His64=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002413711]|Rienhoff syndrome [RCV002529490]|not provided [RCV001697554] Chr14:75980702 [GRCh38]
Chr14:76447045 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.519C>T (p.Ile173=) single nucleotide variant Rienhoff syndrome [RCV002526753]|not provided [RCV000560383] Chr14:75971253 [GRCh38]
Chr14:76437596 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.830_832del (p.His277del) deletion Familial thoracic aortic aneurysm and aortic dissection [RCV002315255]|Rienhoff syndrome [RCV002531858] Chr14:75963410..75963412 [GRCh38]
Chr14:76429753..76429755 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.626G>A (p.Arg209His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311975]|Rienhoff syndrome [RCV002531778]|not provided [RCV001555807] Chr14:75971146 [GRCh38]
Chr14:76437489 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.840C>T (p.Leu280=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315253]|Rienhoff syndrome [RCV002532817] Chr14:75963402 [GRCh38]
Chr14:76429745 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.927-20A>G single nucleotide variant Rienhoff syndrome [RCV002529580]|not specified [RCV000607884] Chr14:75961096 [GRCh38]
Chr14:76427439 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_003239.5(TGFB3):c.957C>T (p.Pro319=) single nucleotide variant Rienhoff syndrome [RCV002529578]|not specified [RCV000608146] Chr14:75961046 [GRCh38]
Chr14:76427389 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.921C>T (p.Cys307=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002377275]|Rienhoff syndrome [RCV002529678]|not specified [RCV000616925] Chr14:75963321 [GRCh38]
Chr14:76429664 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_003239.5(TGFB3):c.916del (p.Tyr306fs) deletion Rienhoff syndrome [RCV002534215] Chr14:75963326 [GRCh38]
Chr14:76429669 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.604T>G (p.Phe202Val) single nucleotide variant Rienhoff syndrome [RCV002536304]|not provided [RCV001811431] Chr14:75971168 [GRCh38]
Chr14:76437511 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.891G>T (p.Arg297Ser) single nucleotide variant Rienhoff syndrome [RCV002534216] Chr14:75963351 [GRCh38]
Chr14:76429694 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.454C>T (p.Arg152Trp) single nucleotide variant Rienhoff syndrome [RCV002534217] Chr14:75971617 [GRCh38]
Chr14:76437960 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002477464]|Familial thoracic aortic aneurysm and aortic dissection [RCV002334211]|Rienhoff syndrome [RCV002534218]|not provided [RCV001766426] Chr14:75971608 [GRCh38]
Chr14:76437951 [GRCh37]
Chr14:14q24.3
likely pathogenic|uncertain significance
NM_003239.5(TGFB3):c.1054C>T (p.Arg352Cys) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002406489]|Rienhoff syndrome [RCV002534219] Chr14:75960949 [GRCh38]
Chr14:76427292 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.213C>T (p.Ala71=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002424551]|Rienhoff syndrome [RCV002534220] Chr14:75980681 [GRCh38]
Chr14:76447024 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.534G>A (p.Glu178=) single nucleotide variant Rienhoff syndrome [RCV002534221] Chr14:75971238 [GRCh38]
Chr14:76437581 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.99C>T (p.Gly33=) single nucleotide variant Rienhoff syndrome [RCV002536305] Chr14:75980795 [GRCh38]
Chr14:76447138 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.755-20A>C single nucleotide variant Rienhoff syndrome [RCV002531594]|not specified [RCV000611795] Chr14:75963507 [GRCh38]
Chr14:76429850 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.813G>C (p.Lys271Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002420541]|Rienhoff syndrome [RCV003103811]|not provided [RCV000995212] Chr14:75963429 [GRCh38]
Chr14:76429772 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.352+16C>G single nucleotide variant not specified [RCV000609322] Chr14:75980526 [GRCh38]
Chr14:76446869 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.258G>A (p.Glu86=) single nucleotide variant Rienhoff syndrome [RCV002531599]|not specified [RCV000614765] Chr14:75980636 [GRCh38]
Chr14:76446979 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.395T>C (p.Phe132Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315250] Chr14:75971676 [GRCh38]
Chr14:76438019 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33
pathogenic
NM_003239.5(TGFB3):c.995G>T (p.Trp332Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311973] Chr14:75961008 [GRCh38]
Chr14:76427351 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.480C>T (p.Ser160=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315248]|Rienhoff syndrome [RCV002531854] Chr14:75971591 [GRCh38]
Chr14:76437934 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.1080G>C (p.Thr360=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315249] Chr14:75960923 [GRCh38]
Chr14:76427266 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.612C>T (p.Val204=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311972]|Rienhoff syndrome [RCV002531770] Chr14:75971160 [GRCh38]
Chr14:76437503 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002315251]|Rienhoff syndrome [RCV002531855]|not provided [RCV001702694] Chr14:75959288 [GRCh38]
Chr14:76425631 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.964A>G (p.Ile322Val) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002311974] Chr14:75961039 [GRCh38]
Chr14:76427382 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.757G>A (p.Val253Met) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002485600]|Familial thoracic aortic aneurysm and aortic dissection [RCV002388198]|Rienhoff syndrome [RCV003103825]|not provided [RCV001592863] Chr14:75963485 [GRCh38]
Chr14:76429828 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1183A>C (p.Thr395Pro) single nucleotide variant Rienhoff syndrome [RCV002533655] Chr14:75959243 [GRCh38]
Chr14:76425586 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1001A>G (p.His334Arg) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002369854]|Rienhoff syndrome [RCV002544872]|TGFB3-related condition [RCV003403600] Chr14:75961002 [GRCh38]
Chr14:76427345 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.101A>G (p.His34Arg) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002485743]|Familial thoracic aortic aneurysm and aortic dissection [RCV002360810]|Rienhoff syndrome [RCV002534411]|not provided [RCV001585651] Chr14:75980793 [GRCh38]
Chr14:76447136 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_003239.5(TGFB3):c.301T>C (p.Tyr101His) single nucleotide variant Rienhoff syndrome [RCV002533742]|not provided [RCV002223927] Chr14:75980593 [GRCh38]
Chr14:76446936 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1A>G (p.Met1Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002485730]|Rienhoff syndrome [RCV002534394]|not provided [RCV001771992] Chr14:75980893 [GRCh38]
Chr14:76447236 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.908A>C (p.Asp303Ala) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002493200]|Rienhoff syndrome [RCV002532307] Chr14:75963334 [GRCh38]
Chr14:76429677 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1080G>A (p.Thr360=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001798959]|Rienhoff syndrome [RCV002544825]|not provided [RCV001766474] Chr14:75960923 [GRCh38]
Chr14:76427266 [GRCh37]
Chr14:14q24.3
likely pathogenic|uncertain significance
NM_003239.5(TGFB3):c.235C>G (p.Leu79Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002493233]|Familial thoracic aortic aneurysm and aortic dissection [RCV002442517]|Rienhoff syndrome [RCV002533678] Chr14:75980659 [GRCh38]
Chr14:76447002 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.352+2dup duplication Rienhoff syndrome [RCV002536401] Chr14:75980539..75980540 [GRCh38]
Chr14:76446882..76446883 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.428G>T (p.Arg143Ile) single nucleotide variant Rienhoff syndrome [RCV002533468] Chr14:75971643 [GRCh38]
Chr14:76437986 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.517-1G>C single nucleotide variant Rienhoff syndrome [RCV002544847] Chr14:75971256 [GRCh38]
Chr14:76437599 [GRCh37]
Chr14:14q24.3
likely pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_003239.5(TGFB3):c.926+2T>A single nucleotide variant not provided [RCV001531813] Chr14:75963314 [GRCh38]
Chr14:76429657 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.755-1G>C single nucleotide variant not provided [RCV000761887] Chr14:75963488 [GRCh38]
Chr14:76429831 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.711T>C (p.Asp237=) single nucleotide variant Rienhoff syndrome [RCV002533888]|not provided [RCV000761888] Chr14:75965631 [GRCh38]
Chr14:76431974 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.*8C>T single nucleotide variant not provided [RCV001574618] Chr14:75959179 [GRCh38]
Chr14:76425522 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.646+9A>G single nucleotide variant Rienhoff syndrome [RCV002547205] Chr14:75971117 [GRCh38]
Chr14:76437460 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.661C>T (p.Leu221=) single nucleotide variant not provided [RCV000877455] Chr14:75965681 [GRCh38]
Chr14:76432024 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.755-7T>G single nucleotide variant Rienhoff syndrome [RCV002539030] Chr14:75963494 [GRCh38]
Chr14:76429837 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.729C>T (p.His243=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001423737] Chr14:75965613 [GRCh38]
Chr14:76431956 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.591C>T (p.Ala197=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002495253]|Familial thoracic aortic aneurysm and aortic dissection [RCV002352531]|Rienhoff syndrome [RCV002538960]|not provided [RCV003392643] Chr14:75971181 [GRCh38]
Chr14:76437524 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.109A>T (p.Lys37Ter) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002429734]|Rienhoff syndrome [RCV002554568] Chr14:75980785 [GRCh38]
Chr14:76447128 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic
NM_003239.5(TGFB3):c.850C>T (p.Pro284Ser) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002489641]|Rienhoff syndrome [RCV002553786] Chr14:75963392 [GRCh38]
Chr14:76429735 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.622G>A (p.Val208Met) single nucleotide variant Rienhoff syndrome [RCV002553843] Chr14:75971150 [GRCh38]
Chr14:76437493 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1146C>T (p.Asp382=) single nucleotide variant not provided [RCV000995210] Chr14:75959280 [GRCh38]
Chr14:76425623 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.756C>T (p.Gly252=) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002481771]|Familial thoracic aortic aneurysm and aortic dissection [RCV002391055]|Rienhoff syndrome [RCV002549900] Chr14:75963486 [GRCh38]
Chr14:76429829 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_003239.5(TGFB3):c.516G>A (p.Gln172=) single nucleotide variant not provided [RCV000995214] Chr14:75971555 [GRCh38]
Chr14:76437898 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.69T>C (p.Ser23=) single nucleotide variant not provided [RCV000995217] Chr14:75980825 [GRCh38]
Chr14:76447168 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.230G>C (p.Arg77Pro) single nucleotide variant Rienhoff syndrome [RCV002553756] Chr14:75980664 [GRCh38]
Chr14:76447007 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.551G>A (p.Arg184His) single nucleotide variant Rienhoff syndrome [RCV002551340]|not provided [RCV001772211] Chr14:75971221 [GRCh38]
Chr14:76437564 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.324C>T (p.Phe108=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV000770647]|Rienhoff syndrome [RCV002533968]|not provided [RCV000978118] Chr14:75980570 [GRCh38]
Chr14:76446913 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003239.5(TGFB3):c.57G>C (p.Thr19=) single nucleotide variant Rienhoff syndrome [RCV002550562] Chr14:75980837 [GRCh38]
Chr14:76447180 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.693C>T (p.Thr231=) single nucleotide variant Rienhoff syndrome [RCV002544570] Chr14:75965649 [GRCh38]
Chr14:76431992 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.600G>T (p.Leu200=) single nucleotide variant not provided [RCV000968917] Chr14:75971172 [GRCh38]
Chr14:76437515 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.550C>T (p.Arg184Cys) single nucleotide variant Rienhoff syndrome [RCV002537044]|not provided [RCV002305540] Chr14:75971222 [GRCh38]
Chr14:76437565 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.755-38T>C single nucleotide variant not provided [RCV000834114] Chr14:75963525 [GRCh38]
Chr14:76429868 [GRCh37]
Chr14:14q24.3
benign
NC_000014.9:g.(?_75958692)_(75965705_?)del deletion Loeys-Dietz syndrome 4 [RCV000823956] Chr14:75958692..75965705 [GRCh38]
Chr14:76425035..76432048 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.398G>A (p.Arg133His) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003344075]|Rienhoff syndrome [RCV002535459] Chr14:75971673 [GRCh38]
Chr14:76438016 [GRCh37]
Chr14:14q24.3
uncertain significance
NC_000014.9:g.(?_75958692)_(75971728_?)del deletion Rienhoff syndrome [RCV003103846] Chr14:75958692..75971728 [GRCh38]
Chr14:76425035..76438071 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.956C>T (p.Pro319Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002372337]|Rienhoff syndrome [RCV002537458] Chr14:75961047 [GRCh38]
Chr14:76427390 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.926+188G>A single nucleotide variant not provided [RCV000838712] Chr14:75963128 [GRCh38]
Chr14:76429471 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.754+257A>G single nucleotide variant not provided [RCV000844176] Chr14:75965331 [GRCh38]
Chr14:76431674 [GRCh37]
Chr14:14q24.3
benign
NM_003239.5(TGFB3):c.926+290G>T single nucleotide variant not provided [RCV000844178] Chr14:75963026 [GRCh38]
Chr14:76429369 [GRCh37]
Chr14:14q24.3
benign
NM_003239.5(TGFB3):c.1048T>A (p.Tyr350Asn) single nucleotide variant Rienhoff syndrome [RCV002535864] Chr14:75960955 [GRCh38]
Chr14:76427298 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.926+147_926+148del microsatellite not provided [RCV000834787] Chr14:75963168..75963169 [GRCh38]
Chr14:76429511..76429512 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.986G>C (p.Gly329Ala) single nucleotide variant Rienhoff syndrome [RCV002537018] Chr14:75961017 [GRCh38]
Chr14:76427360 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.647-80del deletion not provided [RCV000834113] Chr14:75965775 [GRCh38]
Chr14:76432118 [GRCh37]
Chr14:14q24.3
benign
NM_003239.5(TGFB3):c.441C>T (p.Phe147=) single nucleotide variant Rienhoff syndrome [RCV002538264]|not provided [RCV000827635] Chr14:75971630 [GRCh38]
Chr14:76437973 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.1080+13C>T single nucleotide variant not provided [RCV000841754] Chr14:75960910 [GRCh38]
Chr14:76427253 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.514C>T (p.Gln172Ter) single nucleotide variant not provided [RCV000788172] Chr14:75971557 [GRCh38]
Chr14:76437900 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.188C>A (p.Thr63Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002406750]|Rienhoff syndrome [RCV002534617]|not provided [RCV001567935] Chr14:75980706 [GRCh38]
Chr14:76447049 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.516+135T>C single nucleotide variant not provided [RCV000835839] Chr14:75971420 [GRCh38]
Chr14:76437763 [GRCh37]
Chr14:14q24.3
benign
NM_003239.5(TGFB3):c.927-19T>C single nucleotide variant Rienhoff syndrome [RCV002536147]|not provided [RCV000842174] Chr14:75961095 [GRCh38]
Chr14:76427438 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.1219A>G (p.Lys407Glu) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV002477803]|Familial thoracic aortic aneurysm and aortic dissection [RCV003307429]|Rienhoff syndrome [RCV002535898]|not provided [RCV001811485] Chr14:75959207 [GRCh38]
Chr14:76425550 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.754+293T>A single nucleotide variant not provided [RCV000830519] Chr14:75965295 [GRCh38]
Chr14:76431638 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.325G>A (p.Asp109Asn) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV001329670]|Familial thoracic aortic aneurysm and aortic dissection [RCV002319930]|Rienhoff syndrome [RCV002536021] Chr14:75980569 [GRCh38]
Chr14:76446912 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.16C>G (p.Gln6Glu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002406782]|Rienhoff syndrome [RCV002534729]|not provided [RCV003238816] Chr14:75980878 [GRCh38]
Chr14:76447221 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.785G>T (p.Gly262Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV000789033] Chr14:75963457 [GRCh38]
Chr14:76429800 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1080+163T>C single nucleotide variant not provided [RCV000839321] Chr14:75960760 [GRCh38]
Chr14:76427103 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.1081-146G>A single nucleotide variant not provided [RCV000839330] Chr14:75959491 [GRCh38]
Chr14:76425834 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.431C>A (p.Thr144Asn) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003166335]|Rienhoff syndrome [RCV002534841] Chr14:75971640 [GRCh38]
Chr14:76437983 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q24.3(chr14:76057971-76576494)x3 copy number gain not provided [RCV000846916] Chr14:76057971..76576494 [GRCh37]
Chr14:14q24.3
uncertain significance
NC_000014.9:g.(?_75958692)_(75980923_?)del deletion Loeys-Dietz syndrome 4 [RCV001032791] Chr14:76425035..76447266 [GRCh37]
Chr14:14q24.3
pathogenic
NM_003239.5(TGFB3):c.754+6_754+10del deletion Rienhoff syndrome [RCV002573214]|not provided [RCV001571533] Chr14:75965578..75965582 [GRCh38]
Chr14:76431921..76431925 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_003239.5(TGFB3):c.443G>A (p.Arg148Gln) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002466932] Chr14:75971628 [GRCh38]
Chr14:76437971 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.409_417del (p.Ser137_Val139del) deletion Rienhoff syndrome [RCV002561870] Chr14:75971654..75971662 [GRCh38]
Chr14:76437997..76438005 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.229C>T (p.Arg77Trp) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV003380897]|Rienhoff syndrome [RCV002563013]|not provided [RCV001732077] Chr14:75980665 [GRCh38]
Chr14:76447008 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.440T>G (p.Phe147Cys) single nucleotide variant Rienhoff syndrome [RCV002562333]|not provided [RCV001773464] Chr14:75971631 [GRCh38]
Chr14:76437974 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.517-3T>C single nucleotide variant Rienhoff syndrome [RCV002562590] Chr14:75971258 [GRCh38]
Chr14:76437601 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.416T>C (p.Val139Ala) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002327525]|Rienhoff syndrome [RCV002563028] Chr14:75971655 [GRCh38]
Chr14:76437998 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.919T>C (p.Cys307Arg) single nucleotide variant Rienhoff syndrome [RCV001197792] Chr14:75963323 [GRCh38]
Chr14:76429666 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.782G>A (p.Arg261His) single nucleotide variant Brugada syndrome [RCV000852458] Chr14:75963460 [GRCh38]
Chr14:76429803 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.883G>C (p.Gly295Arg) single nucleotide variant Inborn genetic diseases [RCV002538869]|Primary dilated cardiomyopathy [RCV000852701]|Rienhoff syndrome [RCV002536193] Chr14:75963359 [GRCh38]
Chr14:76429702 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_003239.5(TGFB3):c.1190A>G (p.Lys397Arg) single nucleotide variant Rienhoff syndrome [RCV001198137] Chr14:75959236 [GRCh38]
Chr14:76425579 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.896A>C (p.Lys299Thr) single nucleotide variant not provided [RCV003127079] Chr14:75963346 [GRCh38]
Chr14:76429689 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.223A>G (p.Ser75Gly) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002424991]|not provided [RCV001568466] Chr14:75980671 [GRCh38]
Chr14:76447014 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.*13G>A single nucleotide variant not provided [RCV001550631] Chr14:75959174 [GRCh38]
Chr14:76425517 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.516+37G>A single nucleotide variant not provided [RCV001569277] Chr14:75971518 [GRCh38]
Chr14:76437861 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.*682G>A single nucleotide variant not provided [RCV001567838] Chr14:75958505 [GRCh38]
Chr14:76424848 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.352+331G>A single nucleotide variant not provided [RCV001586367] Chr14:75980211 [GRCh38]
Chr14:76446554 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.798C>T (p.Arg266=) single nucleotide variant Rienhoff syndrome [RCV002568484]|not provided [RCV001575482] Chr14:75963444 [GRCh38]
Chr14:76429787 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_003239.5(TGFB3):c.810G>A (p.Gln270=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001491859] Chr14:75963432 [GRCh38]
Chr14:76429775 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.926+9G>A single nucleotide variant Loeys-Dietz syndrome 4 [RCV001464949] Chr14:75963307 [GRCh38]
Chr14:76429650 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.1083G>T (p.Val361=) single nucleotide variant Rienhoff syndrome [RCV002544581] Chr14:75959343 [GRCh38]
Chr14:76425686 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.1134C>T (p.Cys378=) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002319959]|Rienhoff syndrome [RCV002536237] Chr14:75959292 [GRCh38]
Chr14:76425635 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.135A>T (p.Gly45=) single nucleotide variant Rienhoff syndrome [RCV002562573] Chr14:75980759 [GRCh38]
Chr14:76447102 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1127C>T (p.Pro376Leu) single nucleotide variant Rienhoff syndrome [RCV002563877] Chr14:75959299 [GRCh38]
Chr14:76425642 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.777T>C (p.His259=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001497174] Chr14:75963465 [GRCh38]
Chr14:76429808 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.*820G>A single nucleotide variant not provided [RCV001569562] Chr14:75958367 [GRCh38]
Chr14:76424710 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.792G>A (p.Leu264=) single nucleotide variant not provided [RCV001586812] Chr14:75963450 [GRCh38]
Chr14:76429793 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.755-307A>C single nucleotide variant not provided [RCV001546707] Chr14:75963794 [GRCh38]
Chr14:76430137 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.176C>T (p.Pro59Leu) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV002400167]|Rienhoff syndrome [RCV002549901]|not provided [RCV000995216] Chr14:75980718 [GRCh38]
Chr14:76447061 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.-1048GGAGAG[2] microsatellite not provided [RCV001596413] Chr14:75981924..75981929 [GRCh38]
Chr14:76448267..76448272 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.754+139A>G single nucleotide variant not provided [RCV001651364] Chr14:75965449 [GRCh38]
Chr14:76431792 [GRCh37]
Chr14:14q24.3
benign
NM_003239.5(TGFB3):c.926+104G>A single nucleotide variant not provided [RCV001638515] Chr14:75963212 [GRCh38]
Chr14:76429555 [GRCh37]
Chr14:14q24.3
benign
NM_003239.5(TGFB3):c.171del (p.Glu58fs) deletion</