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

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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 biosynthetic process; and positive regulation of cellular component organization. Located in intracellular membrane-bounded organelle; transforming growth factor beta complex; and transforming growth factor beta ligand-receptor complex. Implicated in Loeys-Dietz syndrome 5; arrhythmogenic right ventricular cardiomyopathy; and arrhythmogenic right ventricular dysplasia 1. Biomarker of colon cancer and colorectal cancer.
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.p13 Ensembl1475,958,097 - 75,983,011 (-)EnsemblGRCh38hg38GRCh38
GRCh371476,424,440 - 76,449,354 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361475,494,195 - 75,517,242 (-)NCBINCBI36hg18NCBI36
Build 341475,494,194 - 75,517,242NCBI
Celera1456,462,579 - 56,486,236 (-)NCBI
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 (-)NCBI
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,ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
cannabidiol  (ISO)
capsaicin  (ISO)
carbon nanotube  (ISO)
chlorthalidone  (ISO)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (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)
dieldrin  (ISO)
diethylstilbestrol  (EXP)
dioxygen  (ISO)
diuron  (ISO)
endosulfan  (ISO)
erythromycin estolate  (ISO)
ethanol  (ISO)
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)
L-ascorbic acid  (EXP)
L-methionine  (ISO)
levamisole  (ISO)
linuron  (ISO)
lipopolysaccharide  (ISO)
LY 364947  (ISO)
m-xylene  (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)
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)
triphenyl phosphate  (ISO)
troglitazone  (ISO)
urethane  (ISO)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aging  (IEA,ISO)
animal organ morphogenesis  (ISO)
BMP signaling pathway  (IBA)
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,ISO)
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)
ossification involved in bone remodeling  (IEP)
positive regulation of apoptotic process  (IEA,ISO,ISS)
positive regulation of bone mineralization  (IEP)
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 pathway-restricted SMAD protein phosphorylation  (IBA,ISS)
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)
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)
SMAD protein signal transduction  (IBA)
transforming growth factor beta receptor signaling pathway  (IBA,IDA)
uterine wall breakdown  (TAS)
wound healing  (IEA,ISO)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal aortic aneurysm  (IAGP)
Abnormal left ventricular function  (IAGP)
Abnormal sternum morphology  (IAGP)
Abnormality iris morphology  (IAGP)
Aortic regurgitation  (IAGP)
Aortic root aneurysm  (IAGP)
Arachnodactyly  (IAGP)
Ascending aortic dissection  (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)
Cardiomegaly  (IAGP)
Cardiomyopathy  (IAGP)
Carotid artery dilatation  (IAGP)
Cervical spine instability  (IAGP)
Chest pain  (IAGP)
Congenital finger flexion contractures  (IAGP)
Coronary artery atherosclerosis  (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)
Hemoptysis  (IAGP)
Heterogeneous  (IAGP)
Hiatus hernia  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypovolemia  (IAGP)
Increased arm span  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability, mild  (IAGP)
Ischemic stroke  (IAGP)
Joint hypermobility  (IAGP)
Kyphoscoliosis  (IAGP)
Left ventricular noncompaction  (IAGP)
Long face  (IAGP)
Long palpebral fissure  (IAGP)
Midface retrusion  (IAGP)
Mitral regurgitation  (IAGP)
Mucoid extracellular matrix accumulation  (IAGP)
Neonatal hypotonia  (IAGP)
Nevus flammeus  (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)
Prenatal maternal abnormality  (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)
Subarachnoid hemorrhage  (IAGP)
Sudden cardiac death  (IAGP)
Talipes equinovarus  (IAGP)
Tall stature  (IAGP)
Tented upper lip vermilion  (IAGP)
Transient ischemic attack  (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. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Zhonghua xin xue guan bing za zhi Hu BC, etal., Zhonghua Xin Xue Guan Bing Za Zhi. 2005 Feb;33(2):127-31.
6. 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.
7. 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.
8. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
9. 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.
10. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
11. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
12. The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. Rampazzo A, etal., Hum Mol Genet. 1994 Jun;3(6):959-62.
13. Transforming growth factor-beta stimulates vascular endothelial growth factor production by folliculostellate pituitary cells. Renner U, etal., Endocrinology 2002 Oct;143(10):3759-65.
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. 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.
18. Mechanisms of TGF-beta signaling from cell membrane to the nucleus. Shi Y and Massague J, Cell. 2003 Jun 13;113(6):685-700.
19. 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.
20. MSX1 and TGFB3 contribute to clefting in South America. Vieira AR, etal., J Dent Res. 2003 Apr;82(4):289-92.
21. 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.
22. 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  


Genomics

Comparative Map Data
TGFB3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381475,958,097 - 75,983,011 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1475,958,097 - 75,983,011 (-)EnsemblGRCh38hg38GRCh38
GRCh371476,424,440 - 76,449,354 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361475,494,195 - 75,517,242 (-)NCBINCBI36hg18NCBI36
Build 341475,494,194 - 75,517,242NCBI
Celera1456,462,579 - 56,486,236 (-)NCBI
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 (-)NCBI
Tgfb3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391286,103,517 - 86,125,815 (-)NCBIGRCm39mm39
GRCm39 Ensembl1286,103,519 - 86,125,815 (-)Ensembl
GRCm381286,056,743 - 86,079,041 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1286,056,745 - 86,079,041 (-)EnsemblGRCm38mm10GRCm38
MGSCv371287,397,693 - 87,419,991 (-)NCBIGRCm37mm9NCBIm37
MGSCv361286,945,847 - 86,967,637 (-)NCBImm8
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 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl6105,704,236 - 105,726,564 (-)Ensembl
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 (-)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.11475,359,505 - 75,382,412 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1475,359,505 - 75,382,412 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01456,516,697 - 56,542,097 (-)NCBIMhudiblu_PPA_v0panPan3
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 (-)NCBI
ROS_Cfam_1.0849,145,129 - 49,170,643 (-)NCBI
ROS_Cfam_1.0 Ensembl849,147,212 - 49,170,366 (-)Ensembl
UMICH_Zoey_3.1848,817,670 - 48,843,148 (-)NCBI
UNSW_CanFamBas_1.0848,839,598 - 48,865,116 (-)NCBI
UU_Cfam_GSD_1.0849,235,714 - 49,261,227 (-)NCBI
Tgfb3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864027,060,257 - 27,083,429 (+)NCBI
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 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2453,203,301 - 53,227,325 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605341,419,765 - 41,443,760 (-)NCBIVero_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_1.0hetGla2
HetGla 1.0NW_00462473425,717,011 - 25,739,942 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D14S42  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q24UniSTS
HuRef1457,299,290 - 57,299,412UniSTS
Marshfield Genetic Map1489.19UniSTS
Marshfield Genetic Map1489.19RGD
deCODE Assembly Map1476.18UniSTS
Stanford-G3 RH Map142871.0UniSTS
Whitehead-YAC Contig Map14 UniSTS
NCBI RH Map14854.2UniSTS
SHGC-30624  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371476,424,473 - 76,424,597UniSTSGRCh37
Build 361475,494,226 - 75,494,350RGDNCBI36
Celera1456,462,610 - 56,462,734RGD
Cytogenetic Map14q24UniSTS
HuRef1456,593,134 - 56,593,258UniSTS
TNG Radiation Hybrid Map1427936.0UniSTS
GeneMap99-GB4 RH Map14202.62UniSTS
Whitehead-RH Map14268.5UniSTS
GeneMap99-G3 RH Map142882.0UniSTS
hstgf37  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371476,425,021 - 76,425,261UniSTSGRCh37
Build 361475,494,774 - 75,495,014RGDNCBI36
Celera1456,463,158 - 56,463,398RGD
Cytogenetic Map14q24UniSTS
HuRef1456,593,682 - 56,593,922UniSTS
RH79157  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371476,424,596 - 76,424,719UniSTSGRCh37
Build 361475,494,349 - 75,494,472RGDNCBI36
Celera1456,462,733 - 56,462,856RGD
Cytogenetic Map14q24UniSTS
HuRef1456,593,257 - 56,593,380UniSTS
GeneMap99-GB4 RH Map14202.48UniSTS
NCBI RH Map14847.9UniSTS
RH70130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371476,427,104 - 76,427,224UniSTSGRCh37
Build 361475,496,857 - 75,496,977RGDNCBI36
Celera1456,465,241 - 56,465,361RGD
Cytogenetic Map14q24UniSTS
HuRef1456,595,766 - 56,595,886UniSTS
GeneMap99-GB4 RH Map14203.66UniSTS
NCBI RH Map14885.0UniSTS
SHGC-11931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371476,425,213 - 76,425,327UniSTSGRCh37
Build 361475,494,966 - 75,495,080RGDNCBI36
Celera1456,463,350 - 56,463,464RGD
Cytogenetic Map14q24UniSTS
HuRef1456,593,874 - 56,593,988UniSTS
TNG Radiation Hybrid Map1427948.0UniSTS
GeneMap99-G3 RH Map142891.0UniSTS
GDB:386107  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371476,448,222 - 76,448,515UniSTSGRCh37
Build 361475,517,975 - 75,518,268RGDNCBI36
Celera1456,486,366 - 56,486,659RGD
Cytogenetic Map14q24UniSTS
HuRef1456,616,896 - 56,617,189UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2155
Count of miRNA genes:975
Interacting mature miRNAs:1188
Transcripts:ENST00000238682, ENST00000554980, ENST00000555193, ENST00000556285, ENST00000556507, ENST00000556674, ENST00000557493
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.


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 1447 1874 1188 220 162 117 2293 1399 1913 128 911 1192 104 934 1734 2
Low 967 784 532 402 1381 346 2036 794 1796 286 526 413 67 1 270 1054 1
Below cutoff 20 329 3 1 399 2 27 1 8 4 21 6 3 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA778162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF107885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH013314 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY140241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY208161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM804677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ448273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX417403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN417712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS566146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA196236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF560714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M58524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X14891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000238682   ⟹   ENSP00000238682
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1475,958,097 - 75,981,995 (-)Ensembl
RefSeq Acc Id: ENST00000554980
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1475,958,099 - 75,966,722 (-)Ensembl
RefSeq Acc Id: ENST00000555193
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1475,980,576 - 75,982,836 (-)Ensembl
RefSeq Acc Id: ENST00000556285   ⟹   ENSP00000451110
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1475,963,062 - 75,980,993 (-)Ensembl
RefSeq Acc Id: ENST00000556507
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1475,959,289 - 75,960,957 (-)Ensembl
RefSeq Acc Id: ENST00000556674
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1475,958,116 - 75,983,011 (-)Ensembl
RefSeq Acc Id: ENST00000557493
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1475,960,861 - 75,970,790 (-)Ensembl
RefSeq Acc Id: NM_001329938   ⟹   NP_001316867
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381475,963,061 - 75,981,995 (-)NCBI
T2T-CHM13v2.01470,172,253 - 70,191,186 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001329939   ⟹   NP_001316868
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381475,958,097 - 75,983,011 (-)NCBI
T2T-CHM13v2.01470,167,287 - 70,192,202 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003239   ⟹   NP_003230
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381475,958,097 - 75,981,995 (-)NCBI
GRCh371476,424,440 - 76,449,334 (-)NCBI
Build 361475,494,195 - 75,517,242 (-)NCBI Archive
HuRef1456,593,103 - 56,616,766 (-)ENTREZGENE
CHM1_11476,362,233 - 76,386,169 (-)NCBI
T2T-CHM13v2.01470,167,287 - 70,191,186 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003230   ⟸   NM_003239
- Peptide Label: isoform 1 preproprotein
- UniProtKB: P10600 (UniProtKB/Swiss-Prot),   A5YM40 (UniProtKB/TrEMBL),   B3KVH9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316868   ⟸   NM_001329939
- Peptide Label: isoform 1 preproprotein
- UniProtKB: P10600 (UniProtKB/Swiss-Prot),   A5YM40 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316867   ⟸   NM_001329938
- Peptide Label: isoform 2 precursor
- UniProtKB: P10600 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000451110   ⟸   ENST00000556285
RefSeq Acc Id: ENSP00000238682   ⟸   ENST00000238682
Protein Domains
TGF_BETA_2   TGFb_propeptide

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P10600-F1-model_v2 AlphaFold P10600 1-412 view protein structure

Promoters
RGD ID:6791947
Promoter ID:HG_KWN:19829
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:NM_003239,   UC001XSD.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361475,517,676 - 75,518,642 (-)MPROMDB
RGD ID:7228205
Promoter ID:EPDNEW_H19849
Type:initiation region
Name:TGFB3_1
Description:transforming growth factor beta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19850  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381475,981,007 - 75,981,067EPDNEW
RGD ID:7228209
Promoter ID:EPDNEW_H19850
Type:initiation region
Name:TGFB3_2
Description:transforming growth factor beta 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19849  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381475,981,160 - 75,981,220EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003239.5(TGFB3):c.989G>A (p.Trp330Ter) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000528556] Chr14:75961014 [GRCh38]
Chr14:76427357 [GRCh37]
Chr14:14q24.3
pathogenic
NM_003239.5(TGFB3):c.389A>G (p.Lys130Arg) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000530954] Chr14:75971682 [GRCh38]
Chr14:76438025 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.221A>G (p.Asn74Ser) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000527997] 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]|Loeys-Dietz syndrome 4 [RCV000553481] 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]|Loeys-Dietz syndrome 4 [RCV001851820] Chr14:75958692 [GRCh38]
Chr14:76425035 [GRCh37]
Chr14:14q24.3
pathogenic|uncertain significance
NM_003239.5(TGFB3):c.806A>G (p.Lys269Arg) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000543725] Chr14:75963436 [GRCh38]
Chr14:76429779 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs) duplication Cardiovascular phenotype [RCV000617261]|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 Loeys-Dietz syndrome 4 [RCV000227468]|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 Loeys-Dietz syndrome 4 [RCV001303646] 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]|Loeys-Dietz syndrome 4 [RCV000654898]|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 Loeys-Dietz syndrome 4 [RCV000654899]|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]|Cardiovascular phenotype [RCV000243234]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171232]|Hypertrophic cardiomyopathy [RCV000852702]|Left ventricular noncompaction [RCV000624174]|Loeys-Dietz syndrome 4 [RCV001080393]|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 Cardiovascular phenotype [RCV000621083]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171230]|Loeys-Dietz syndrome 4 [RCV000525772]|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 Cardiovascular phenotype [RCV000620252]|Loeys-Dietz syndrome 4 [RCV000547312]|not provided [RCV000611099] 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]|Loeys-Dietz syndrome 4 [RCV000232112]|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 Cardiovascular phenotype [RCV000618587]|Loeys-Dietz syndrome 4 [RCV001402725]|not provided [RCV000229412] Chr14:75971651 [GRCh38]
Chr14:76437994 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.34C>T (p.Leu12=) single nucleotide variant Cardiovascular phenotype [RCV000620314]|Loeys-Dietz syndrome 4 [RCV000228321]|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 Loeys-Dietz syndrome 4 [RCV000229793]|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 Cardiovascular phenotype [RCV000247638]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171228]|Loeys-Dietz syndrome 4 [RCV000231878]|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 Cardiovascular phenotype [RCV000618845]|Loeys-Dietz syndrome 4 [RCV000232643]|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 Loeys-Dietz syndrome 4 [RCV000232295]|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 Loeys-Dietz syndrome 4 [RCV000234590]|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 Cardiovascular phenotype [RCV000245718]|Loeys-Dietz syndrome 4 [RCV000225954]|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 Cardiovascular phenotype [RCV000618312]|Familial thoracic aortic aneurysm and aortic dissection [RCV001171231]|Loeys-Dietz syndrome 4 [RCV000226558]|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 Loeys-Dietz syndrome 4 [RCV000824473]|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 Loeys-Dietz syndrome 4 [RCV000524842]|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 Loeys-Dietz syndrome 4 [RCV001246283]|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 Cardiovascular phenotype [RCV000619884]|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 Cardiovascular phenotype [RCV000621669] Chr14:75980571 [GRCh38]
Chr14:76446914 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.516+4A>T single nucleotide variant Loeys-Dietz syndrome 4 [RCV000545861] Chr14:75971551 [GRCh38]
Chr14:76437894 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.353-1G>C single nucleotide variant Loeys-Dietz syndrome 4 [RCV000552268] Chr14:75971719 [GRCh38]
Chr14:76438062 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.698A>T (p.Gln233Leu) single nucleotide variant Cardiovascular phenotype [RCV000244609] 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 Cardiovascular phenotype [RCV000621308]|Loeys-Dietz syndrome 4 [RCV000867435]|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 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] Chr14:75981429 [GRCh38]
Chr14:76447772 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1081-14A>G single nucleotide variant Loeys-Dietz syndrome 4 [RCV002056423]|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] 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 Loeys-Dietz syndrome 4 [RCV000696680] 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 Loeys-Dietz syndrome 4 [RCV000549862] 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 Cardiovascular phenotype [RCV000620015]|Loeys-Dietz syndrome 4 [RCV001037435]|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 Loeys-Dietz syndrome 4 [RCV000550507]|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 Loeys-Dietz syndrome 4 [RCV000528920] 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_003239.4(TGFB3):c.498G>A (p.Gln166=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000407528] Chr14:75971573 [GRCh38]
Chr14:76437916 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.339G>A (p.Gly113=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000531907] 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] Chr14:75981439..75981440 [GRCh38]
Chr14:76447782..76447783 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.4(TGFB3):c.*505G>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000353916] 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 Cardiovascular phenotype [RCV000621515] 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 Cardiovascular phenotype [RCV000617523]|Loeys-Dietz syndrome 4 [RCV000654900] Chr14:75971566 [GRCh38]
Chr14:76437909 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.289G>A (p.Glu97Lys) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001860133]|not provided [RCV000587920] Chr14:75980605 [GRCh38]
Chr14:76446948 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.934GAG[1] (p.Glu313del) microsatellite Loeys-Dietz syndrome 4 [RCV000551236] 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 Cardiovascular phenotype [RCV000620738]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770646]|Loeys-Dietz syndrome 4 [RCV000554958]|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 Loeys-Dietz syndrome 4 [RCV000529740] 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 Loeys-Dietz syndrome 4 [RCV001317729]|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 Loeys-Dietz syndrome 4 [RCV000539505] Chr14:75959240 [GRCh38]
Chr14:76425583 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1149G>A (p.Leu383=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000535876] 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]|Loeys-Dietz syndrome 4 [RCV001295633]|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 Loeys-Dietz syndrome 4 [RCV001851098]|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 Cardiovascular phenotype [RCV000622245]|Loeys-Dietz syndrome 4 [RCV000470741]|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 Loeys-Dietz syndrome 4 [RCV000704957]|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 Cardiovascular phenotype [RCV000618428]|Loeys-Dietz syndrome 4 [RCV001208066]|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 Loeys-Dietz syndrome 4 [RCV002059764]|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 Loeys-Dietz syndrome 4 [RCV001308697]|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 Loeys-Dietz syndrome 4 [RCV001470508]|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 Loeys-Dietz syndrome 4 [RCV002063599]|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 Cardiovascular phenotype [RCV000617852]|Loeys-Dietz syndrome 4 [RCV000817993]|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 Cardiovascular phenotype [RCV000621423]|Loeys-Dietz syndrome 4 [RCV000541925]|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 Loeys-Dietz syndrome 4 [RCV000466466]|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 Loeys-Dietz syndrome 4 [RCV000466645] 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 Loeys-Dietz syndrome 4 [RCV000465880]|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]|not provided [RCV000459647] Chr14:75980549 [GRCh38]
Chr14:76446892 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.193G>A (p.Val65Ile) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000474711]|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 Loeys-Dietz syndrome 4 [RCV000471168]|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 Loeys-Dietz syndrome 4 [RCV000456396]|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 Cardiovascular phenotype [RCV000620142]|Loeys-Dietz syndrome 4 [RCV000456464]|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 Loeys-Dietz syndrome 4 [RCV000460341] 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]|Loeys-Dietz syndrome 4 [RCV000464759] Chr14:75961038 [GRCh38]
Chr14:76427381 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000472175]|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 Loeys-Dietz syndrome 4 [RCV000473364]|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 Cardiovascular phenotype [RCV000619146]|Loeys-Dietz syndrome 4 [RCV000457494]|not provided [RCV001815332] Chr14:75980797 [GRCh38]
Chr14:76447140 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.39C>T (p.Ala13=) single nucleotide variant Cardiovascular phenotype [RCV000619071]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770649]|Loeys-Dietz syndrome 4 [RCV000472461]|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]|Cardiovascular phenotype [RCV000618120]|Familial thoracic aortic aneurysm and aortic dissection [RCV000770648]|Loeys-Dietz syndrome 4 [RCV000465981]|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 Loeys-Dietz syndrome 4 [RCV000462294] 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
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
NM_003239.5(TGFB3):c.1143G>T (p.Gln381His) single nucleotide variant 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]|Loeys-Dietz syndrome 4 [RCV000698133]|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 Cardiovascular phenotype [RCV000618833]|Loeys-Dietz syndrome 4 [RCV001868131] 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 Loeys-Dietz syndrome 4 [RCV000537920]|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 Loeys-Dietz syndrome 4 [RCV000538292] 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 Cardiovascular phenotype [RCV000619795]|Loeys-Dietz syndrome 4 [RCV001473619]|not provided [RCV000539699]|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 Cardiovascular phenotype [RCV000621268]|Loeys-Dietz syndrome 4 [RCV000654895]|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 Loeys-Dietz syndrome 4 [RCV000559753]|not provided [RCV002225665] Chr14:75963492 [GRCh38]
Chr14:76429835 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.754+5C>T single nucleotide variant Cardiovascular phenotype [RCV000619325]|Loeys-Dietz syndrome 4 [RCV000544947]|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 Cardiovascular phenotype [RCV000617232] 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]|Loeys-Dietz syndrome 4 [RCV001060458]|Rienhoff syndrome [RCV000576406] Chr14:75961077 [GRCh38]
Chr14:76427420 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.10C>T (p.His4Tyr) single nucleotide variant Cardiovascular phenotype [RCV000620302] Chr14:75980884 [GRCh38]
Chr14:76447227 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.471C>G (p.Pro157=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001437638]|not provided [RCV000877127] Chr14:75971600 [GRCh38]
Chr14:76437943 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs) deletion Cardiovascular phenotype [RCV000617331] Chr14:75959321..75959324 [GRCh38]
Chr14:76425664..76425667 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.732G>A (p.Glu244=) single nucleotide variant Cardiovascular phenotype [RCV000617340] Chr14:75965610 [GRCh38]
Chr14:76431953 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.1108C>G (p.Pro370Ala) single nucleotide variant Cardiovascular phenotype [RCV000617733] Chr14:75959318 [GRCh38]
Chr14:76425661 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.387C>T (p.Ser129=) single nucleotide variant Cardiovascular phenotype [RCV000617820]|Loeys-Dietz syndrome 4 [RCV000868249] Chr14:75971684 [GRCh38]
Chr14:76438027 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_003239.5(TGFB3):c.1185C>T (p.Thr395=) single nucleotide variant Cardiovascular phenotype [RCV000618007]|Loeys-Dietz syndrome 4 [RCV001416546] Chr14:75959241 [GRCh38]
Chr14:76425584 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.192C>T (p.His64=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000887819]|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 Loeys-Dietz syndrome 4 [RCV001499161]|not provided [RCV000560383] Chr14:75971253 [GRCh38]
Chr14:76437596 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.830_832del (p.His277del) deletion Cardiovascular phenotype [RCV000619213]|Loeys-Dietz syndrome 4 [RCV001860407] 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 Cardiovascular phenotype [RCV000619148]|Loeys-Dietz syndrome 4 [RCV001069261]|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 Cardiovascular phenotype [RCV000619276]|Loeys-Dietz syndrome 4 [RCV000654906] Chr14:75963402 [GRCh38]
Chr14:76429745 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.927-20A>G single nucleotide variant Loeys-Dietz syndrome 4 [RCV002063322]|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 Loeys-Dietz syndrome 4 [RCV001423743]|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 Loeys-Dietz syndrome 4 [RCV001510690]|not specified [RCV000616925] Chr14:75963321 [GRCh38]
Chr14:76429664 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_003239.5(TGFB3):c.916del (p.Tyr306fs) deletion Loeys-Dietz syndrome 4 [RCV000654896] Chr14:75963326 [GRCh38]
Chr14:76429669 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.604T>G (p.Phe202Val) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000654897]|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 Loeys-Dietz syndrome 4 [RCV000654901] Chr14:75963351 [GRCh38]
Chr14:76429694 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.454C>T (p.Arg152Trp) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000654902] Chr14:75971617 [GRCh38]
Chr14:76437960 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.463C>T (p.Arg155Trp) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000654903]|not provided [RCV001766426] Chr14:75971608 [GRCh38]
Chr14:76437951 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1054C>T (p.Arg352Cys) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000654904] Chr14:75960949 [GRCh38]
Chr14:76427292 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.213C>T (p.Ala71=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000654905] Chr14:75980681 [GRCh38]
Chr14:76447024 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.534G>A (p.Glu178=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001501813]|not provided [RCV000654907] Chr14:75971238 [GRCh38]
Chr14:76437581 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.99C>T (p.Gly33=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000654908] Chr14:75980795 [GRCh38]
Chr14:76447138 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.755-20A>C single nucleotide variant Loeys-Dietz syndrome 4 [RCV002064164]|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 Loeys-Dietz syndrome 4 [RCV000558791]|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 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 Cardiovascular phenotype [RCV000619584] 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 Cardiovascular phenotype [RCV000618623] Chr14:75961008 [GRCh38]
Chr14:76427351 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.480C>T (p.Ser160=) single nucleotide variant Cardiovascular phenotype [RCV000618694]|Loeys-Dietz syndrome 4 [RCV001451465] Chr14:75971591 [GRCh38]
Chr14:76437934 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.1080G>C (p.Thr360=) single nucleotide variant Cardiovascular phenotype [RCV000620362] Chr14:75960923 [GRCh38]
Chr14:76427266 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.612C>T (p.Val204=) single nucleotide variant Cardiovascular phenotype [RCV000619084]|Loeys-Dietz syndrome 4 [RCV001496198]|not provided [RCV000875009] Chr14:75971160 [GRCh38]
Chr14:76437503 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser) single nucleotide variant Cardiovascular phenotype [RCV000620927]|Loeys-Dietz syndrome 4 [RCV001368342]|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 Cardiovascular phenotype [RCV000619960] Chr14:75961039 [GRCh38]
Chr14:76427382 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.757G>A (p.Val253Met) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000686447]|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 Loeys-Dietz syndrome 4 [RCV000702478] Chr14:75959243 [GRCh38]
Chr14:76425586 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1001A>G (p.His334Arg) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000690344] Chr14:75961002 [GRCh38]
Chr14:76427345 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.101A>G (p.His34Arg) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000703320]|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 Loeys-Dietz syndrome 4 [RCV000705953]|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 Loeys-Dietz syndrome 4 [RCV000702294]|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 Loeys-Dietz syndrome 4 [RCV000695501] 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]|Loeys-Dietz syndrome 4 [RCV000688751]|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 Loeys-Dietz syndrome 4 [RCV000703125] Chr14:75980659 [GRCh38]
Chr14:76447002 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.352+2dup duplication Loeys-Dietz syndrome 4 [RCV000705724] 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 Loeys-Dietz syndrome 4 [RCV000696898] Chr14:75971643 [GRCh38]
Chr14:76437986 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.517-1G>C single nucleotide variant Loeys-Dietz syndrome 4 [RCV000689554] 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 Loeys-Dietz syndrome 4 [RCV001481717]|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 Loeys-Dietz syndrome 4 [RCV001486636]|not provided [RCV000950355] 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 Loeys-Dietz syndrome 4 [RCV001397449]|not provided [RCV000869197] 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]|not provided [RCV000869206] Chr14:75965613 [GRCh38]
Chr14:76431956 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.591C>T (p.Ala197=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000865798] Chr14:75971181 [GRCh38]
Chr14:76437524 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.109A>T (p.Lys37Ter) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001069206] Chr14:75980785 [GRCh38]
Chr14:76447128 [GRCh37]
Chr14:14q24.3
pathogenic
NM_003239.5(TGFB3):c.850C>T (p.Pro284Ser) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001055023] Chr14:75963392 [GRCh38]
Chr14:76429735 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.622G>A (p.Val208Met) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001058307] 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 Loeys-Dietz syndrome 4 [RCV001858810]|not provided [RCV000995213] Chr14:75963486 [GRCh38]
Chr14:76429829 [GRCh37]
Chr14:14q24.3
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 Loeys-Dietz syndrome 4 [RCV001053367] Chr14:75980664 [GRCh38]
Chr14:76447007 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.551G>A (p.Arg184His) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001035828]|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]|Loeys-Dietz syndrome 4 [RCV001486740]|not provided [RCV000978118] Chr14:75980570 [GRCh38]
Chr14:76446913 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_003239.5(TGFB3):c.57G>C (p.Thr19=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000981591] Chr14:75980837 [GRCh38]
Chr14:76447180 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.693C>T (p.Thr231=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001444478]|not provided [RCV000940411] 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 Loeys-Dietz syndrome 4 [RCV000797351] 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 Loeys-Dietz syndrome 4 [RCV000817977] Chr14:75971673 [GRCh38]
Chr14:76438016 [GRCh37]
Chr14:14q24.3
uncertain significance
NC_000014.9:g.(?_75958692)_(75971728_?)del deletion Loeys-Dietz syndrome 4 [RCV000821296] 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 Loeys-Dietz syndrome 4 [RCV000820099] 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 Loeys-Dietz syndrome 4 [RCV000792140] 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 Loeys-Dietz syndrome 4 [RCV000796162] 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 Loeys-Dietz syndrome 4 [RCV002067463]|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 Loeys-Dietz syndrome 4 [RCV000797349]|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 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 Loeys-Dietz syndrome 4 [RCV000793914]|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]|Loeys-Dietz syndrome 4 [RCV000824390] Chr14:75980569 [GRCh38]
Chr14:76446912 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.16C>G (p.Gln6Glu) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000802883] 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 Loeys-Dietz syndrome 4 [RCV000814510] 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 Loeys-Dietz syndrome 4 [RCV001866031]|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 not provided [RCV000995215] Chr14:75971628 [GRCh38]
Chr14:76437971 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.409_417del (p.Ser137_Val139del) deletion Loeys-Dietz syndrome 4 [RCV001215610] 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 Loeys-Dietz syndrome 4 [RCV001221101]|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 Loeys-Dietz syndrome 4 [RCV001207101]|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 Loeys-Dietz syndrome 4 [RCV001224076] Chr14:75971258 [GRCh38]
Chr14:76437601 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.416T>C (p.Val139Ala) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001222266] 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 Loeys-Dietz syndrome 4 [RCV001346240]|Primary dilated cardiomyopathy [RCV000852701] 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.223A>G (p.Ser75Gly) single nucleotide variant 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 Loeys-Dietz syndrome 4 [RCV002072259]|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]|not provided [RCV000925045] 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]|not provided [RCV000939190] Chr14:75963307 [GRCh38]
Chr14:76429650 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.1083G>T (p.Val361=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001439098]|not provided [RCV000941909] Chr14:75959343 [GRCh38]
Chr14:76425686 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.1134C>T (p.Cys378=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV000862717] Chr14:75959292 [GRCh38]
Chr14:76425635 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.135A>T (p.Gly45=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001223000] Chr14:75980759 [GRCh38]
Chr14:76447102 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1127C>T (p.Pro376Leu) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001236987] 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]|not provided [RCV000935597] 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 Loeys-Dietz syndrome 4 [RCV001048158]|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 Flexion contracture [RCV001007841]|not specified [RCV002249624] Chr14:75980723 [GRCh38]
Chr14:76447066 [GRCh37]
Chr14:14q24.3
pathogenic|uncertain significance
NM_003239.5(TGFB3):c.*482del deletion not provided [RCV001684017] Chr14:75958705 [GRCh38]
Chr14:76425048 [GRCh37]
Chr14:14q24.3
benign
NM_003239.5(TGFB3):c.352+115G>C single nucleotide variant not provided [RCV001585027] Chr14:75980427 [GRCh38]
Chr14:76446770 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.352+236T>C single nucleotide variant not provided [RCV001616293] Chr14:75980306 [GRCh38]
Chr14:76446649 [GRCh37]
Chr14:14q24.3
benign
NM_003239.5(TGFB3):c.647-98A>G single nucleotide variant not provided [RCV001609880] Chr14:75965793 [GRCh38]
Chr14:76432136 [GRCh37]
Chr14:14q24.3
benign
NM_003239.5(TGFB3):c.625C>T (p.Arg209Cys) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001060854] Chr14:75971147 [GRCh38]
Chr14:76437490 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1064A>G (p.Asp355Gly) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001042692] Chr14:75960939 [GRCh38]
Chr14:76427282 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.517-2A>G single nucleotide variant Loeys-Dietz syndrome 4 [RCV001069359] Chr14:75971257 [GRCh38]
Chr14:76437600 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.440T>C (p.Phe147Ser) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001236333] Chr14:75971631 [GRCh38]
Chr14:76437974 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.926+1G>A single nucleotide variant Loeys-Dietz syndrome 4 [RCV001064836] Chr14:75963315 [GRCh38]
Chr14:76429658 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.1124C>T (p.Ser375Leu) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001037847] Chr14:75959302 [GRCh38]
Chr14:76425645 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1219A>T (p.Lys407Ter) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001063158] Chr14:75959207 [GRCh38]
Chr14:76425550 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.83C>T (p.Thr28Ile) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001039400] Chr14:75980811 [GRCh38]
Chr14:76447154 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.935A>G (p.Glu312Gly) single nucleotide variant not provided [RCV001311366] Chr14:75961068 [GRCh38]
Chr14:76427411 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.769G>T (p.Asp257Tyr) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001304500] Chr14:75963473 [GRCh38]
Chr14:76429816 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.929A>C (p.Asn310Thr) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001327213] Chr14:75961074 [GRCh38]
Chr14:76427417 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.985G>T (p.Gly329Cys) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001342609] Chr14:75961018 [GRCh38]
Chr14:76427361 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.706G>A (p.Gly236Arg) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001299453] Chr14:75965636 [GRCh38]
Chr14:76431979 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.155G>C (p.Arg52Thr) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001303247] Chr14:75980739 [GRCh38]
Chr14:76447082 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.411del (p.Ser138fs) deletion Arrhythmogenic right ventricular dysplasia 1 [RCV001333115] Chr14:75971660 [GRCh38]
Chr14:76438003 [GRCh37]
Chr14:14q24.3
pathogenic
NM_003239.5(TGFB3):c.1081-3C>T single nucleotide variant not provided [RCV001311365] Chr14:75959348 [GRCh38]
Chr14:76425691 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.428G>A (p.Arg143Lys) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001340635] Chr14:75971643 [GRCh38]
Chr14:76437986 [GRCh37]
Chr14:14q24.3
uncertain significance
NC_000014.8:g.(?_76437449)_(76438081_?)del deletion Loeys-Dietz syndrome 4 [RCV001304613] Chr14:76437449..76438081 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.335A>G (p.Gln112Arg) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001298468]|Rienhoff syndrome [RCV001535561] Chr14:75980559 [GRCh38]
Chr14:76446902 [GRCh37]
Chr14:14q24.3
uncertain significance|not provided
NM_003239.5(TGFB3):c.186G>A (p.Met62Ile) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001362350] Chr14:75980708 [GRCh38]
Chr14:76447051 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.742A>G (p.Ile248Val) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001324855] Chr14:75965600 [GRCh38]
Chr14:76431943 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.529G>A (p.Asp177Asn) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001372468] Chr14:75971243 [GRCh38]
Chr14:76437586 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.446C>A (p.Ala149Glu) single nucleotide variant TGFB3-related connective tissue disorders [RCV001270824] Chr14:75971625 [GRCh38]
Chr14:76437968 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.1236C>T (p.Ser412=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001395493] Chr14:75959190 [GRCh38]
Chr14:76425533 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.952C>T (p.Arg318Cys) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001362141]|not provided [RCV001570942] Chr14:75961051 [GRCh38]
Chr14:76427394 [GRCh37]
Chr14:14q24.3
likely pathogenic|uncertain significance
NM_003239.5(TGFB3):c.901G>A (p.Ala301Thr) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001326284] Chr14:75963341 [GRCh38]
Chr14:76429684 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.892A>C (p.Lys298Gln) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001323957]|not provided [RCV001773646] Chr14:75963350 [GRCh38]
Chr14:76429693 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.516+5C>T single nucleotide variant Loeys-Dietz syndrome 4 [RCV001297006] Chr14:75971550 [GRCh38]
Chr14:76437893 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1214T>C (p.Val405Ala) single nucleotide variant not specified [RCV001290574] Chr14:75959212 [GRCh38]
Chr14:76425555 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.830A>G (p.His277Arg) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001344409] Chr14:75963412 [GRCh38]
Chr14:76429755 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.139A>T (p.Ile47Phe) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001359725] Chr14:75980755 [GRCh38]
Chr14:76447098 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.605T>C (p.Phe202Ser) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001319546] Chr14:75971167 [GRCh38]
Chr14:76437510 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.538A>C (p.Ile180Leu) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001344455]|not provided [RCV001751672] Chr14:75971234 [GRCh38]
Chr14:76437577 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.907G>C (p.Asp303His) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001344543] Chr14:75963335 [GRCh38]
Chr14:76429678 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1063_1064del (p.Asp355fs) deletion Loeys-Dietz syndrome 4 [RCV001321334] Chr14:75960939..75960940 [GRCh38]
Chr14:76427282..76427283 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.56C>T (p.Thr19Met) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001301249] Chr14:75980838 [GRCh38]
Chr14:76447181 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1175T>C (p.Val392Ala) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001366411] Chr14:75959251 [GRCh38]
Chr14:76425594 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1175T>A (p.Val392Asp) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001318571] Chr14:75959251 [GRCh38]
Chr14:76425594 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.107AGA[2] (p.Lys38del) microsatellite Loeys-Dietz syndrome 4 [RCV001366948] Chr14:75980779..75980781 [GRCh38]
Chr14:76447122..76447124 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1135G>A (p.Val379Met) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001298447]|not provided [RCV002224048] Chr14:75959291 [GRCh38]
Chr14:76425634 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.488G>T (p.Arg163Leu) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001338012] Chr14:75971583 [GRCh38]
Chr14:76437926 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.926+8_926+9del deletion Loeys-Dietz syndrome 4 [RCV001479263] Chr14:75963307..75963308 [GRCh38]
Chr14:76429650..76429651 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.435C>T (p.Asn145=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001502471] Chr14:75971636 [GRCh38]
Chr14:76437979 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.75C>T (p.Ser25=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001402623] Chr14:75980819 [GRCh38]
Chr14:76447162 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.153C>T (p.Leu51=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001467627] Chr14:75980741 [GRCh38]
Chr14:76447084 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.516+9T>C single nucleotide variant Loeys-Dietz syndrome 4 [RCV001417925] Chr14:75971546 [GRCh38]
Chr14:76437889 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.150G>A (p.Lys50=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001474365] Chr14:75980744 [GRCh38]
Chr14:76447087 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.405T>C (p.Asn135=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001491940] Chr14:75971666 [GRCh38]
Chr14:76438009 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.1194G>A (p.Val398=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001488533] Chr14:75959232 [GRCh38]
Chr14:76425575 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.170dup (p.Pro57_Glu58insTer) duplication Loeys-Dietz syndrome 4 [RCV001389207] Chr14:75980723..75980724 [GRCh38]
Chr14:76447066..76447067 [GRCh37]
Chr14:14q24.3
pathogenic
NM_003239.5(TGFB3):c.832C>T (p.Leu278=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001434203] Chr14:75963410 [GRCh38]
Chr14:76429753 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.684A>G (p.Pro228=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001444044] Chr14:75965658 [GRCh38]
Chr14:76432001 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.795G>A (p.Gly265=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001436011] Chr14:75963447 [GRCh38]
Chr14:76429790 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.926+1G>T single nucleotide variant Loeys-Dietz syndrome 4 [RCV001378332] Chr14:75963315 [GRCh38]
Chr14:76429658 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.438A>G (p.Leu146=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001447319] Chr14:75971633 [GRCh38]
Chr14:76437976 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.708A>G (p.Gly236=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001431548] Chr14:75965634 [GRCh38]
Chr14:76431977 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.927-7G>A single nucleotide variant Loeys-Dietz syndrome 4 [RCV001442491] Chr14:75961083 [GRCh38]
Chr14:76427426 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.144G>A (p.Leu48=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001406219] Chr14:75980750 [GRCh38]
Chr14:76447093 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.210G>C (p.Leu70=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001448581] Chr14:75980684 [GRCh38]
Chr14:76447027 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.237G>A (p.Leu79=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001457636] Chr14:75980657 [GRCh38]
Chr14:76447000 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.621del (p.Val208fs) deletion Loeys-Dietz syndrome 4 [RCV001866178]|not provided [RCV001593503] Chr14:75971151 [GRCh38]
Chr14:76437494 [GRCh37]
Chr14:14q24.3
pathogenic
NM_003239.5(TGFB3):c.1050C>T (p.Tyr350=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001480018] Chr14:75960953 [GRCh38]
Chr14:76427296 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.900G>C (p.Arg300=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001452559] Chr14:75963342 [GRCh38]
Chr14:76429685 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.180G>A (p.Thr60=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001459929] Chr14:75980714 [GRCh38]
Chr14:76447057 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.750C>T (p.Phe250=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001463308] Chr14:75965592 [GRCh38]
Chr14:76431935 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.471C>T (p.Pro157=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001481201] Chr14:75971600 [GRCh38]
Chr14:76437943 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.369C>T (p.Cys123=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001502866] Chr14:75971702 [GRCh38]
Chr14:76438045 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.171T>C (p.Pro57=) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001498058] Chr14:75980723 [GRCh38]
Chr14:76447066 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.353-14_353-10del deletion Loeys-Dietz syndrome 4 [RCV001478064] Chr14:75971728..75971732 [GRCh38]
Chr14:76438071..76438075 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.516+8C>A single nucleotide variant Loeys-Dietz syndrome 4 [RCV001486761] Chr14:75971547 [GRCh38]
Chr14:76437890 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.927-13dup duplication Loeys-Dietz syndrome 4 [RCV001523670] Chr14:75961083..75961084 [GRCh38]
Chr14:76427426..76427427 [GRCh37]
Chr14:14q24.3
benign
NM_003239.5(TGFB3):c.927-4G>A single nucleotide variant Loeys-Dietz syndrome 4 [RCV001398067] Chr14:75961080 [GRCh38]
Chr14:76427423 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.353-5C>T single nucleotide variant Loeys-Dietz syndrome 4 [RCV001424347] Chr14:75971723 [GRCh38]
Chr14:76438066 [GRCh37]
Chr14:14q24.3
likely benign
NM_003239.5(TGFB3):c.990G>A (p.Trp330Ter) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001384799] Chr14:75961013 [GRCh38]
Chr14:76427356 [GRCh37]
Chr14:14q24.3
pathogenic
NM_003239.5(TGFB3):c.796C>T (p.Arg266Cys) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV002260467] Chr14:75963446 [GRCh38]
Chr14:76429789 [GRCh37]
uncertain significance
NM_003239.5(TGFB3):c.996G>T (p.Trp332Cys) single nucleotide variant not provided [RCV001726920] Chr14:75961007 [GRCh38]
Chr14:76427350 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.905T>C (p.Leu302Ser) single nucleotide variant not provided [RCV001756768] Chr14:75963337 [GRCh38]
Chr14:76429680 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.901G>T (p.Ala301Ser) single nucleotide variant not provided [RCV001763474] Chr14:75963341 [GRCh38]
Chr14:76429684 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1222T>C (p.Ser408Pro) single nucleotide variant not provided [RCV001760991] Chr14:75959204 [GRCh38]
Chr14:76425547 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1066A>G (p.Thr356Ala) single nucleotide variant not provided [RCV001767109] Chr14:75960937 [GRCh38]
Chr14:76427280 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.260G>T (p.Arg87Met) single nucleotide variant not provided [RCV001754430] Chr14:75980634 [GRCh38]
Chr14:76446977 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.752A>G (p.Lys251Arg) single nucleotide variant not provided [RCV001773843] Chr14:75965590 [GRCh38]
Chr14:76431933 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.827C>T (p.Pro276Leu) single nucleotide variant not provided [RCV001774236] Chr14:75963415 [GRCh38]
Chr14:76429758 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.878A>C (p.Gln293Pro) single nucleotide variant not provided [RCV001756718] Chr14:75963364 [GRCh38]
Chr14:76429707 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.130A>T (p.Arg44Trp) single nucleotide variant not provided [RCV001752601] Chr14:75980764 [GRCh38]
Chr14:76447107 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.301T>A (p.Tyr101Asn) single nucleotide variant not provided [RCV001770619] Chr14:75980593 [GRCh38]
Chr14:76446936 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.662T>C (p.Leu221Pro) single nucleotide variant not provided [RCV001768943] Chr14:75965680 [GRCh38]
Chr14:76432023 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.979G>T (p.Asp327Tyr) single nucleotide variant Familial thoracic aortic aneurysm and aortic dissection [RCV001799298] Chr14:75961024 [GRCh38]
Chr14:76427367 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.275C>T (p.Thr92Ile) single nucleotide variant not provided [RCV001779845] Chr14:75980619 [GRCh38]
Chr14:76446962 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.227C>T (p.Thr76Ile) single nucleotide variant not provided [RCV001811859] Chr14:75980667 [GRCh38]
Chr14:76447010 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.680G>A (p.Cys227Tyr) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001870823] Chr14:75965662 [GRCh38]
Chr14:76432005 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.723del (p.Asn241fs) deletion Loeys-Dietz syndrome 4 [RCV001896056] Chr14:75965619 [GRCh38]
Chr14:76431962 [GRCh37]
Chr14:14q24.3
pathogenic
NM_003239.5(TGFB3):c.927-10T>G single nucleotide variant Loeys-Dietz syndrome 4 [RCV002043098] Chr14:75961086 [GRCh38]
Chr14:76427429 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.646G>A (p.Glu216Lys) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001950171] Chr14:75971126 [GRCh38]
Chr14:76437469 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.128T>C (p.Ile43Thr) single nucleotide variant not provided [RCV001837646] Chr14:75980766 [GRCh38]
Chr14:76447109 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.355del (p.Glu119fs) deletion Loeys-Dietz syndrome 4 [RCV002007473] Chr14:75971716 [GRCh38]
Chr14:76438059 [GRCh37]
Chr14:14q24.3
pathogenic
NM_003239.5(TGFB3):c.842T>C (p.Met281Thr) single nucleotide variant Loeys-Dietz syndrome 4 [RCV002006566] Chr14:75963400 [GRCh38]
Chr14:76429743 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.914A>C (p.Asn305Thr) single nucleotide variant Loeys-Dietz syndrome 4 [RCV002022493] Chr14:75963328 [GRCh38]
Chr14:76429671 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.996G>A (p.Trp332Ter) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001894916] Chr14:75961007 [GRCh38]
Chr14:76427350 [GRCh37]
Chr14:14q24.3
pathogenic
NM_003239.5(TGFB3):c.94T>A (p.Phe32Ile) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001871096] Chr14:75980800 [GRCh38]
Chr14:76447143 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.974G>T (p.Arg325Leu) single nucleotide variant not provided [RCV001843606] Chr14:75961029 [GRCh38]
Chr14:76427372 [GRCh37]
Chr14:14q24.3
uncertain significance
NC_000014.8:g.(?_76425530)_(76432058_?)del deletion Loeys-Dietz syndrome 4 [RCV002040572] Chr14:76425530..76432058 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_003239.5(TGFB3):c.1183A>G (p.Thr395Ala) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001998716] Chr14:75959243 [GRCh38]
Chr14:76425586 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.653A>T (p.Asn218Ile) single nucleotide variant Loeys-Dietz syndrome 4 [RCV002020210] Chr14:75965689 [GRCh38]
Chr14:76432032 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.727C>A (p.His243Asn) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001888706] Chr14:75965615 [GRCh38]
Chr14:76431958 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.812A>G (p.Lys271Arg) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001974014] Chr14:75963430 [GRCh38]
Chr14:76429773 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.914A>G (p.Asn305Ser) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001934326] Chr14:75963328 [GRCh38]
Chr14:76429671 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.41T>C (p.Leu14Pro) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001994140] Chr14:75980853 [GRCh38]
Chr14:76447196 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.524G>A (p.Arg175Gln) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001881384] Chr14:75971248 [GRCh38]
Chr14:76437591 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.469C>G (p.Pro157Ala) single nucleotide variant Loeys-Dietz syndrome 4 [RCV002011946] Chr14:75971602 [GRCh38]
Chr14:76437945 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.436del (p.Leu146fs) deletion Loeys-Dietz syndrome 4 [RCV001960518] Chr14:75971635 [GRCh38]
Chr14:76437978 [GRCh37]
Chr14:14q24.3
pathogenic
NM_003239.5(TGFB3):c.230G>A (p.Arg77Gln) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001898611] Chr14:75980664 [GRCh38]
Chr14:76447007 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.1150G>A (p.Glu384Lys) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001918648] Chr14:75959276 [GRCh38]
Chr14:76425619 [GRCh37]
Chr14:14q24.3
uncertain significance
NC_000014.8:g.(?_76425530)_(76447236_?)del deletion Loeys-Dietz syndrome 4 [RCV001958940] Chr14:76425530..76447236 [GRCh37]
Chr14:14q24.3
pathogenic
NM_003239.5(TGFB3):c.1076G>C (p.Ser359Thr) single nucleotide variant Loeys-Dietz syndrome 4 [RCV001982297] Chr14:75960927 [GRCh38]
Chr14:76427270 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003239.5(TGFB3):c.779G>A (p.Gly260Asp) single nucleotide variant Loeys-Dietz syndrome 4 [