Gene: FBN1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. 3536967

1986
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils. 3536967

1986
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. 8941093

1996
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. 8563763

1996
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome. 8563763

1996
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms. 8941093

1996
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR 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: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR 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: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. 12651868

2003
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. 14598350

2003
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders. 12651868

2003
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. 14598350

2003
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. 15241795

2004
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome. 15241795

2004
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Genetic basis of thoracic aortic aneurysms and aortic dissections. 16273536

2005
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR Genetic basis of thoracic aortic aneurysms and aortic dissections. 16273536

2005
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Molecular pathology of Shprintzen-Goldberg syndrome. 16333834

2006
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy. 17253931

2006
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR Molecular pathology of Shprintzen-Goldberg syndrome. 16333834

2006
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy. 17253931

2006
dbSNP: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 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: rs869025411
rs869025411
FBN1
G 0.700 GeneticVariation 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: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. 20375004

2010