rs776587763
|
|
|
0.710 |
GeneticVariation |
BEFREE |
C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients.
|
28849010 |
2017 |
rs121913105
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.
|
25809207 |
2016 |
rs121913105
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Effective treatment by glycolic acid peeling for cutaneous manifestation of familial generalized acanthosis nigricans caused by FGFR3 mutation.
|
26818779 |
2016 |
rs121913105
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?
|
18583390 |
2008 |
rs121913105
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Familial acanthosis nigricans due to K650T FGFR3 mutation.
|
17875876 |
2007 |
rs121913105
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
|
11055896 |
2000 |
rs121913105
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis.
|
10377013 |
1999 |
rs121918487
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs776587763
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs121913485
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.
|
28249712 |
2017 |
rs121913113
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome.
|
27139183 |
2016 |
rs121913483
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization.
|
25606676 |
2015 |
rs28931614
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?
|
25691418 |
2015 |
rs28931614
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?
|
25691418 |
2015 |
rs786200952
|
|
CT |
0.700 |
CausalMutation |
CLINVAR |
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
|
25728777 |
2015 |
rs121913485
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
|
24476948 |
2014 |
rs28931614
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
|
25614871 |
2014 |
rs28931614
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
|
25614871 |
2014 |
rs28933068
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
|
25614871 |
2014 |
rs28933068
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
|
25614871 |
2014 |
rs28931615
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Multiple consequences of a single amino acid pathogenic RTK mutation: the A391E mutation in FGFR3.
|
23437153 |
2013 |
rs28931614
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.
|
22045636 |
2012 |
rs28931614
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.
|
22045636 |
2012 |
rs28933068
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.
|
23165795 |
2012 |
rs28933068
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.
|
23165795 |
2012 |