rs104893816
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
27854360
2017
rs104893816
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
25356965
2015
rs104893816
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs104893816
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.
22113417
2012
rs104893816
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.
21949523
2011
rs104893816
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.
20358619
2010
rs104893816
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.
20101701
2010
rs104893816
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.
19533785
2009
rs104893816
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.
19883511
2009
rs104893816
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.
16251899
2006
rs104893816
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
15731757
2005
rs104893816
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
16027248
2005
rs104893816
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
Heterozygous TGFBR2 mutations in Marfan syndrome.
15235604
2004
rs104893816
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
A
0.800
CausalMutation
CLINVAR
rs104893816
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Familial thoracic aortic aneurysm and aortic dissection
T
0.700
CausalMutation
CLINVAR
Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment?
21267002
2011
rs104893816
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Familial thoracic aortic aneurysm and aortic dissection
A
0.700
CausalMutation
CLINVAR
Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.
21098638
2010
rs104893816
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Familial thoracic aortic aneurysm and aortic dissection
T
0.700
CausalMutation
CLINVAR
A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2.
17935258
2008
rs104893816
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Familial thoracic aortic aneurysm and aortic dissection
T
0.700
CausalMutation
CLINVAR
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.
16027248
2005
rs104893816
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Congenital aneurysm of ascending aorta
0.010
GeneticVariation
BEFREE
To describe the clinical findings and natural history in 22 carriers of an R460H mutation in the transforming growth factor beta receptor 2 gene (TGFbetaR2) from a five-generation kindred ascertained by familial aortic dissection .
16885183
2006