Gene: FBN1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111401431
rs111401431
FBN1
A 0.800 CausalMutation CLINVAR Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy. 17253931

2006
dbSNP: rs111401431
rs111401431
FBN1
A 0.800 CausalMutation CLINVAR Ectopia lentis phenotypes and the FBN1 gene. 15054843

2004
dbSNP: rs111401431
rs111401431
FBN1
A 0.800 CausalMutation 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 CausalMutation CLINVAR The molecular genetics of Marfan syndrome and related disorders. 16571647

2006
dbSNP: rs111401431
rs111401431
FBN1
A 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: rs111401431
rs111401431
FBN1
A 0.800 CausalMutation 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 FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. 27437668

2016
dbSNP: rs111401431
rs111401431
FBN1
A 0.800 CausalMutation CLINVAR Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory. 17627385

2007
dbSNP: rs111401431
rs111401431
FBN1
A 0.800 CausalMutation CLINVAR Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation. 19863550

2010
dbSNP: rs111401431
rs111401431
FBN1
A 0.800 GeneticVariation CLINVAR Paucity of skeletal manifestations in Hispanic families with FBN1 mutations. 19941982

2010
dbSNP: rs111401431
rs111401431
FBN1
A 0.800 CausalMutation CLINVAR Paucity of skeletal manifestations in Hispanic families with FBN1 mutations. 19941982

2010
dbSNP: rs111401431
rs111401431
FBN1
A 0.800 GeneticVariation CLINVAR Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients. 17679947

2007
dbSNP: rs111588631
rs111588631
FBN1
G 0.800 GeneticVariation CLINVAR

dbSNP: rs111929350
rs111929350
FBN1
T 0.800 GeneticVariation CLINVAR Molecular analysis of eight mutations in FBN1. 10647894

1999
dbSNP: rs111929350
rs111929350
FBN1
A 0.800 GeneticVariation CLINVAR

dbSNP: rs111929350
rs111929350
FBN1
G 0.800 GeneticVariation CLINVAR

dbSNP: rs111929350
rs111929350
FBN1
T 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: rs111984349
rs111984349
FBN1
T 0.800 CausalMutation CLINVAR Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene, FBN1. 10533071

1999
dbSNP: rs111984349
rs111984349
FBN1
T 0.800 CausalMutation CLINVAR Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. 10464652

1999
dbSNP: rs111984349
rs111984349
FBN1
T 0.800 CausalMutation CLINVAR The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007
dbSNP: rs111984349
rs111984349
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: rs111984349
rs111984349
FBN1
T 0.800 CausalMutation CLINVAR Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes. 21542060

2011
dbSNP: rs111984349
rs111984349
FBN1
T 0.800 CausalMutation CLINVAR Identification of sixty-two novel and twelve known FBN1 mutations in eighty-one unrelated probands with Marfan syndrome and other fibrillinopathies. 16222657

2005
dbSNP: rs111984349
rs111984349
FBN1
T 0.800 GeneticVariation CLINVAR

dbSNP: rs111984349
rs111984349
FBN1
T 0.800 CausalMutation CLINVAR Relation between genotype and left-ventricular dilatation in patients with Marfan syndrome. 24161884

2014