Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854460
rs137854460
FBN1
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: rs137854460
rs137854460
FBN1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs137854460
rs137854460
FBN1
0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528

2014
dbSNP: rs137854460
rs137854460
FBN1
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340

2014
dbSNP: rs137854460
rs137854460
FBN1
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs137854460
rs137854460
FBN1
0.800 GeneticVariation UNIPROT Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. 22772377

2013
dbSNP: rs137854460
rs137854460
FBN1
0.800 GeneticVariation UNIPROT Evaluation of the adolescent or adult with some features of Marfan syndrome. 22237449

2012
dbSNP: rs137854460
rs137854460
FBN1
0.800 GeneticVariation UNIPROT The revised Ghent nosology for the Marfan syndrome. 20591885

2010
dbSNP: rs137854460
rs137854460
FBN1
0.800 GeneticVariation UNIPROT Paucity of skeletal manifestations in Hispanic families with FBN1 mutations. 19941982

2010
dbSNP: rs137854460
rs137854460
FBN1
T 0.800 CausalMutation CLINVAR Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites. 19349279

2009
dbSNP: rs137854460
rs137854460
FBN1
0.800 GeneticVariation UNIPROT Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. 19533785

2009
dbSNP: rs137854460
rs137854460
FBN1
T 0.800 CausalMutation CLINVAR Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. 17701892

2007
dbSNP: rs137854460
rs137854460
FBN1
0.800 GeneticVariation UNIPROT Guidelines for the diagnosis and management of Marfan syndrome. 17188935

2007
dbSNP: rs137854460
rs137854460
FBN1
0.800 GeneticVariation UNIPROT The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007
dbSNP: rs137854460
rs137854460
FBN1
T 0.800 CausalMutation CLINVAR Marfan syndrome-causing mutations in fibrillin-1 result in gross morphological alterations and highlight the structural importance of the second hybrid domain. 16905551

2006
dbSNP: rs137854460
rs137854460
FBN1
T 0.800 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
dbSNP: rs137854460
rs137854460
FBN1
0.800 GeneticVariation UNIPROT Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. 16220557

2005
dbSNP: rs137854460
rs137854460
FBN1
0.800 GeneticVariation UNIPROT Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. 16222657

2005
dbSNP: rs137854460
rs137854460
FBN1
0.800 GeneticVariation UNIPROT Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. 15184297

2004
dbSNP: rs137854460
rs137854460
FBN1
0.800 GeneticVariation UNIPROT Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1. 15161917

2004
dbSNP: rs137854460
rs137854460
FBN1
0.800 GeneticVariation UNIPROT Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 11826022

2002
dbSNP: rs137854460
rs137854460
FBN1
0.800 GeneticVariation UNIPROT TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. 12203992

2002
dbSNP: rs137854460
rs137854460
FBN1
0.800 GeneticVariation UNIPROT Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. 11700157

2001
dbSNP: rs137854460
rs137854460
FBN1
0.800 GeneticVariation UNIPROT Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. 10441597

1999
dbSNP: rs137854460
rs137854460
FBN1
0.800 GeneticVariation UNIPROT Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. 10425041

1999