Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
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
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
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
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		0.800 GeneticVariation UNIPROT Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 22113417 2012
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
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
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
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
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
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
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
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
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
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
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
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
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
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
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
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
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		0.800 GeneticVariation UNIPROT Heterozygous TGFBR2 mutations in Marfan syndrome. 15235604 2004
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Epigenetic control of vascular smooth muscle cells in Marfan and non-Marfan thoracic aortic aneurysms. 20829218 2011
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. 18781618 2008
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. 18827873 2008
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Heterozygous TGFBR2 mutations in Marfan syndrome. 15235604 2004
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C0002940
Disease:
Aneurysm 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs104893809
rs104893809
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 GeneticVariation CLINVAR