Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893813
rs104893813
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: rs104893813
rs104893813
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015

dbSNP: rs104893813
rs104893813
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013

dbSNP: rs104893813
rs104893813
0.800 GeneticVariation UNIPROT Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome. 22113417

2012

dbSNP: rs104893813
rs104893813
0.800 GeneticVariation UNIPROT A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene. 21949523

2011

dbSNP: rs104893813
rs104893813
0.800 GeneticVariation UNIPROT Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B. 20101701

2010

dbSNP: rs104893813
rs104893813
0.800 GeneticVariation UNIPROT Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome. 20358619

2010

dbSNP: rs104893813
rs104893813
0.800 GeneticVariation UNIPROT Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. 19883511

2009

dbSNP: rs104893813
rs104893813
0.800 GeneticVariation UNIPROT Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. 19533785

2009

dbSNP: rs104893813
rs104893813
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: rs104893813
rs104893813
0.800 GeneticVariation UNIPROT Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. 16027248

2005

dbSNP: rs104893813
rs104893813
0.800 GeneticVariation UNIPROT A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 15731757

2005

dbSNP: rs104893813
rs104893813
0.800 GeneticVariation UNIPROT Heterozygous TGFBR2 mutations in Marfan syndrome. 15235604

2004

dbSNP: rs104893813
rs104893813
C 0.800 CausalMutation CLINVAR