Gene: FBN1 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. 8281141

1993
dbSNP: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. 19533785

2009
dbSNP: rs137854461
rs137854461
FBN1
0.820 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: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT Guidelines for the diagnosis and management of Marfan syndrome. 17188935

2007
dbSNP: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular defects in patients with thoracic aortic aneurysms and dissections. 22772377

2013
dbSNP: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1. 15161917

2004
dbSNP: rs137854461
rs137854461
FBN1
0.820 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: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT A new missense mutation of fibrillin in a patient with Marfan syndrome. 8071963

1994
dbSNP: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT Identification of 9 novel FBN1 mutations in German patients with Marfan syndrome. 10425041

1999
dbSNP: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT A novel de novo mutation in exon 14 of the fibrillin-1 gene associated with delayed secretion of fibrillin in a patient with a mild Marfan phenotype. 9254848

1997
dbSNP: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly. 7870075

1994
dbSNP: rs137854461
rs137854461
FBN1
0.820 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: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 11826022

2002
dbSNP: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. 15184297

2004
dbSNP: rs137854461
rs137854461
FBN1
C 0.820 GeneticVariation CLINVAR

dbSNP: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. 8406497

1993
dbSNP: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients. 8004112

1994
dbSNP: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT The revised Ghent nosology for the Marfan syndrome. 20591885

2010
dbSNP: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. 10441597

1999
dbSNP: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome. 7738200

1995
dbSNP: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT Evaluation of the adolescent or adult with some features of Marfan syndrome. 22237449

2012
dbSNP: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT Paucity of skeletal manifestations in Hispanic families with FBN1 mutations. 19941982

2010
dbSNP: rs137854461
rs137854461
FBN1
0.820 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