rs104893815
×
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
rs104893815
×
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
rs104893815
×
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
rs104893815
×
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
rs104893815
×
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
rs104893815
×
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
rs104893815
×
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
rs104893815
×
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
rs104893815
×
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
rs104893815
×
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
rs104893815
×
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
rs104893815
×
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
rs104893815
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
0.800
GeneticVariation
UNIPROT
Heterozygous TGFBR2 mutations in Marfan syndrome.
15235604
2004
rs104893815
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Aortic aneurysm, familial thoracic 3
A
0.800
CausalMutation
CLINVAR
rs104893815
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Familial thoracic aortic aneurysm and aortic dissection
A
0.700
CausalMutation
CLINVAR
Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection.
25116393
2014
rs104893815
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Familial thoracic aortic aneurysm and aortic dissection
A
0.700
CausalMutation
CLINVAR
Loeys-Dietz syndrome presenting as respiratory distress due to pulmonary artery dilation.
22488992
2012
rs104893815
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Familial thoracic aortic aneurysm and aortic dissection
A
0.700
CausalMutation
CLINVAR
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
23103230
2012
rs104893815
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Familial thoracic aortic aneurysm and aortic dissection
A
0.700
CausalMutation
CLINVAR
Multiple facial milia in patients with Loeys-Dietz syndrome.
20956634
2011
rs104893815
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Familial thoracic aortic aneurysm and aortic dissection
A
0.700
CausalMutation
CLINVAR
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders.
19996017
2009
rs104893815
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
A
0.700
CausalMutation
CLINVAR
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
16928994
2006
rs104893815
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Familial thoracic aortic aneurysm and aortic dissection
A
0.700
CausalMutation
CLINVAR
Aneurysm syndromes caused by mutations in the TGF-beta receptor.
16928994
2006
rs104893815
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Loeys-Dietz Syndrome
A
0.700
CausalMutation
CLINVAR
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
15731757
2005
rs104893815
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
Familial thoracic aortic aneurysm and aortic dissection
A
0.700
CausalMutation
CLINVAR
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.
15731757
2005
rs104893815
×
Entrez Id:
7048
Gene Symbol:
TGFBR2
TGFBR2
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6
A
0.700
CausalMutation
CLINVAR