rs113001196
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genotype impacts survival in Marfan syndrome.
|
26787436 |
2016 |
rs869025411
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Genotype impacts survival in Marfan syndrome.
|
26787436 |
2016 |
rs113001196
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The revised ghent nosology; reclassifying isolated ectopia lentis.
|
24635535 |
2015 |
rs113001196
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.
|
25101912 |
2015 |
rs113001196
|
|
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 |
rs113001196
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
FBN1 contributing to familial congenital diaphragmatic hernia.
|
25736269 |
2015 |
rs113001196
|
|
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 |
rs869025411
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.
|
25979247 |
2015 |
rs869025411
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
The revised ghent nosology; reclassifying isolated ectopia lentis.
|
24635535 |
2015 |
rs869025411
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
FBN1 contributing to familial congenital diaphragmatic hernia.
|
25736269 |
2015 |
rs869025411
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
|
26026792 |
2015 |
rs869025411
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.
|
25101912 |
2015 |
rs113001196
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.
|
24665001 |
2014 |
rs869025411
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.
|
24665001 |
2014 |
rs113001196
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.
|
23278365 |
2013 |
rs113001196
|
|
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 |
rs113001196
|
|
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 |
rs869025411
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.
|
24039054 |
2013 |
rs869025411
|
|
G |
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 |
rs869025411
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.
|
23278365 |
2013 |
rs113001196
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.
|
23133647 |
2012 |
rs869025411
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.
|
23133647 |
2012 |
rs113001196
|
|
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 |
rs113001196
|
|
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 |
rs113001196
|
|
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 |