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 In this study we have used three proteases to probe structural changes caused by an N2144S MFS calcium binding mutation in a TB6-cbEGF32 and a cbEGF32-33 domain pair, and an N2183S mutation in the cbEGF32-33 pair. 10942427

2000
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 Recommendations for physical activity and recreational sports participation for young patients with genetic cardiovascular diseases. 15184297

2004
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
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 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 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
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 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 Paucity of skeletal manifestations in Hispanic families with FBN1 mutations. 19941982

2010
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 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 Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 11826022

2002
dbSNP: rs137854462
rs137854462
FBN1
0.810 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: 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: rs137854462
rs137854462
FBN1
0.810 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: 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 Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions. 11826022

2002
dbSNP: rs137854462
rs137854462
FBN1
0.810 GeneticVariation UNIPROT Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation. 10441597

1999
dbSNP: rs137854462
rs137854462
FBN1
0.810 GeneticVariation UNIPROT Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. 8281141

1993
dbSNP: rs137854462
rs137854462
FBN1
0.810 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528

2014
dbSNP: rs137854462
rs137854462
FBN1
0.810 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: rs137854462
rs137854462
FBN1
0.810 GeneticVariation UNIPROT Paucity of skeletal manifestations in Hispanic families with FBN1 mutations. 19941982

2010
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