Gene: FBN1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854461
rs137854461
FBN1
C 0.820 CausalMutation CLINVAR 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
C 0.820 CausalMutation CLINVAR A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module. 8504310

1993
dbSNP: rs137854461
rs137854461
FBN1
C 0.820 CausalMutation CLINVAR The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007
dbSNP: rs137854461
rs137854461
FBN1
C 0.820 CausalMutation CLINVAR Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. 12938084

2003
dbSNP: rs137854461
rs137854461
FBN1
C 0.820 CausalMutation CLINVAR A mutation causing an Asn-2144 --> Ser amino acid change in one of the potential calcium binding residues has been described in a patient with the Marfan syndrome. 7896820

1995
dbSNP: rs137854461
rs137854461
FBN1
C 0.820 GeneticVariation CLINVAR

dbSNP: rs137854461
rs137854461
FBN1
C 0.820 CausalMutation CLINVAR An MFS-causing mutation, N2144S, which removes a calcium ligand in cbEGF32, does not detectably affect fibrillin-1 biosynthesis, rate of secretion, processing, or deposition of reducible fibrillin-1 into the ECM. 11829507

2002
dbSNP: rs137854462
rs137854462
FBN1
A 0.810 CausalMutation CLINVAR

dbSNP: rs137854467
rs137854467
FBN1
A 0.810 CausalMutation CLINVAR

dbSNP: rs137854467
rs137854467
FBN1
A 0.810 GeneticVariation CLINVAR

dbSNP: rs137854468
rs137854468
FBN1
T 0.810 GeneticVariation CLINVAR Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. 12938084

2003
dbSNP: rs137854468
rs137854468
FBN1
T 0.810 GeneticVariation CLINVAR Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains. 19802897

2010
dbSNP: rs137854468
rs137854468
FBN1
T 0.810 GeneticVariation CLINVAR Synergistic activation of adenylate cyclase by guanylyl imidophosphate and epinephrine. 952872

1976
dbSNP: rs137854468
rs137854468
FBN1
T 0.810 GeneticVariation CLINVAR A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection. 7762551

1995
dbSNP: rs137854468
rs137854468
FBN1
T 0.810 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: rs137854478
rs137854478
FBN1
T 0.810 GeneticVariation CLINVAR

dbSNP: rs137854478
rs137854478
FBN1
T 0.810 CausalMutation CLINVAR Cellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1. 17324963

2007
dbSNP: rs137854478
rs137854478
FBN1
T 0.810 CausalMutation CLINVAR Here, we describe as a model system structural and functional consequences of two typical mutations in cbEGF modules of fibrillin-1 (N548I, E1073K), resulting in the Marfan syndrome. 10766875

2000
dbSNP: rs137854478
rs137854478
FBN1
T 0.810 CausalMutation CLINVAR Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function. 21784848

2011
dbSNP: rs111401431
rs111401431
FBN1
A 0.800 GeneticVariation CLINVAR Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy. 14695540

2004
dbSNP: rs111401431
rs111401431
FBN1
A 0.800 CausalMutation CLINVAR Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta. 10930463

2000
dbSNP: rs111401431
rs111401431
FBN1
A 0.800 GeneticVariation CLINVAR Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome. 17663468

2007
dbSNP: rs111401431
rs111401431
FBN1
A 0.800 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: rs111401431
rs111401431
FBN1
A 0.800 CausalMutation CLINVAR Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients. 17679947

2007
dbSNP: rs111401431
rs111401431
FBN1
A 0.800 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