Gene: FBN1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854461
rs137854461
FBN1
0.820 GeneticVariation BEFREE We have also investigated the effect of defective calcium binding to cbEGF32 on fibrillin-1 produced by N2144S MFS fibroblasts. 9887276

1999
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 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 Health supervision for children with Marfan syndrome. American Academy of Pediatrics Committee on Genetics. 8909500

1996
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
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
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 A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly. 7870075

1994
dbSNP: rs137854461
rs137854461
FBN1
0.820 GeneticVariation UNIPROT Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred. 7951214

1994
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 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
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
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
C 0.820 GeneticVariation CLINVAR

dbSNP: rs137854462
rs137854462
FBN1
0.810 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: rs137854467
rs137854467
FBN1
0.810 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: rs137854478
rs137854478
FBN1
0.810 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: rs137854462
rs137854462
FBN1
0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs137854467
rs137854467
FBN1
0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs137854478
rs137854478
FBN1
0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs137854462
rs137854462
FBN1
0.810 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: rs137854462
rs137854462
FBN1
0.810 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528

2014
dbSNP: rs137854467
rs137854467
FBN1
0.810 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: rs137854467
rs137854467
FBN1
0.810 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528

2014
dbSNP: rs137854478
rs137854478
FBN1
0.810 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