Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854461
rs137854461
0.820 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation UNIPROT Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes. 19533785

2009

dbSNP: rs137854461
rs137854461
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
0.820 GeneticVariation UNIPROT Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. 16220557

2006

dbSNP: rs137854461
rs137854461
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

2006

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

2003

dbSNP: rs137854461
rs137854461
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
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
0.820 CausalMutation CLINVAR The calcium binding properties and molecular organization of epidermal growth factor-like domains in human fibrillin-1. 7896820

1995

dbSNP: rs137854461
rs137854461
0.820 GeneticVariation UNIPROT 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
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
0.820 GeneticVariation CLINVAR

dbSNP: rs137854467
rs137854467
0.810 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs137854478
rs137854478
0.810 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

dbSNP: rs137854467
rs137854467
0.810 GeneticVariation BEFREE Correlation of the recurrent FBN1 mutation (c.364C>T) with a unique phenotype in a Chinese patient with Marfan syndrome. 19089573

2009

dbSNP: rs137854467
rs137854467
0.810 GeneticVariation UNIPROT The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations. 17657824

2007

dbSNP: rs137854467
rs137854467
0.810 CausalMutation CLINVAR Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. 12446365

2003

dbSNP: rs137854467
rs137854467
0.810 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: rs137854467
rs137854467
0.810 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: rs137854462
rs137854462
0.810 GeneticVariation BEFREE 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: rs137854462
rs137854462
0.810 CausalMutation CLINVAR Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome. 10766875

2000

dbSNP: rs137854478
rs137854478
0.810 GeneticVariation BEFREE 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: rs137854467
rs137854467
0.810 GeneticVariation UNIPROT Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype. 9452085

1999

dbSNP: rs137854478
rs137854478
0.810 GeneticVariation UNIPROT Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. 8882780

1996

dbSNP: rs137854478
rs137854478
0.810 GeneticVariation UNIPROT Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. 7611299

1995