Gene: FBN1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR The revised Ghent nosology for the Marfan syndrome. 20591885

2010
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. 20375004

2010
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome. 20375004

2010
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene. 20979188

2010
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR The revised Ghent nosology for the Marfan syndrome. 20591885

2010
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. 21594993

2011
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene. 21594992

2011
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 21683322

2011
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene. 21594993

2011
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene. 21594992

2011
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. 21683322

2011
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. 23133647

2012
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions. 23133647

2012
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype. 23278365

2013
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. 23897642

2013
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype. 24039054

2013
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype. 23278365

2013
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype. 24039054

2013
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome. 23897642

2013
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. 24665001

2014
dbSNP: rs387906623
rs387906623
FBN1
T 0.700 GeneticVariation CLINVAR De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy. 24665001

2014
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events. 25101912

2015
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias. 25979247

2015
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR The revised ghent nosology; reclassifying isolated ectopia lentis. 24635535

2015
dbSNP: rs113001196
rs113001196
FBN1
A 0.700 CausalMutation CLINVAR Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract. 26026792

2015