Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893810
rs104893810
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: rs104893810
rs104893810
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: rs104893810
rs104893810
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: rs104893810
rs104893810
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: rs104893810
rs104893810
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: rs104893810
rs104893810
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: rs104893810
rs104893810
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: rs104893810
rs104893810
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: rs104893810
rs104893810
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: rs104893810
rs104893810
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: rs104893810
rs104893810
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: rs104893810
rs104893810
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: rs104893810
rs104893810
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: rs104893810
rs104893810
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2674574
Disease:
Aortic aneurysm, familial thoracic 3
T 0.800 CausalMutation CLINVAR
dbSNP: rs104893810
rs104893810
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome
T 0.710 CausalMutation CLINVAR TGFβ receptor mutations impose a strong predisposition for human allergic disease. 23884466 2013
dbSNP: rs104893810
rs104893810
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome
T 0.710 CausalMutation CLINVAR Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. 21098638 2010
dbSNP: rs104893810
rs104893810
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome
0.710 GeneticVariation BEFREE A new sporadic case of early-onset Loeys-Dietz syndrome due to the recurrent mutation p.R528C in the TGFBR2 gene substantiates interindividual clinical variability. 19875893 2009
dbSNP: rs104893810
rs104893810
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome
T 0.710 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: rs104893810
rs104893810
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome
T 0.710 CausalMutation CLINVAR Severe aortic and arterial aneurysms associated with a TGFBR2 mutation. 17330129 2007
dbSNP: rs104893810
rs104893810
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2697932
Disease:
Loeys-Dietz Syndrome
T 0.710 CausalMutation CLINVAR A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757 2005
dbSNP: rs104893810
rs104893810
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection
T 0.700 CausalMutation CLINVAR In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. 23103230 2012
dbSNP: rs104893810
rs104893810
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection
T 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
dbSNP: rs104893810
rs104893810
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: rs104893810
rs104893810
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection
T 0.700 CausalMutation CLINVAR A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757 2005
dbSNP: rs104893810
rs104893810
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2
CUI: C2981150
Disease:
Uranostaphyloschisis
0.010 GeneticVariation BEFREE Comparison of the phenotypes of our patient and these 5 individuals with c.1582C>T showed that only the hallmark triad of the syndrome - consisting of hypertelorism, aortic root dilatation/aneurysm, and cleft palate or bifid uvula - was present in all 6 cases. 19875893 2009