|
rs1566860640
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1566863801
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs766836061
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs780625551
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121913105
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Protein-losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation.
|
27214123 |
2016 |
|
rs121913105
|
|
|
0.020 |
GeneticVariation |
BEFREE |
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.
|
25119967 |
2015 |
|
rs78311289
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
|
18000903 |
2007 |
|
rs78311289
|
|
|
0.020 |
GeneticVariation |
BEFREE |
One tumour contained K652Q which has recently been identified in less severe cases of skeletal dysplasia.
|
11314002 |
2001 |
|
rs774568856
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Through exome sequencing, we identified a novel homozygous mutation (c.1135T>C; p.Phe379Leu) in PGM3 in two siblings with bone marrow failure, severe combined immunodeficiency, renal and intestinal malformations, and a skeletal dysplasia resembling Desbuquois dysplasia.
|
28543917 |
2017 |
|
rs886044555
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.
|
28738883 |
2017 |
|
rs587777512
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Whole exome sequencing from two cousins affected with dominant coloboma with microcornea, cataracts, and skeletal dysplasia identified a novel heterozygous allele in MAB21L2, c.151 C>G, p.(Arg51Gly); the mutation was present in all five family members with the disease and appeared de novo in the first affected generation of the three-generational pedigree.
|
25719200 |
2015 |
|
rs121913482
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this communication, we report the identification of a mosaic R248C missense mutation in the IgII-III linker region of the gene encoding the fibroblast growth factor receptor-3 (FGFR3), in an individual who manifests a skeletal dysplasia and epidermal hyperplasia.
|
12833394 |
2003 |
|
rs28933068
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Other mutations within the FGFR3 tyrosine kinase domain (e.g., C1620A or C1620G [both resulting in Asn540Lys]) are known to cause hypochondroplasia, a relatively common but milder skeletal dysplasia.
|
11055896 |
2000 |
|
rs74315304
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Molecular analysis of a patient affected by the autosomal recessive skeletal dysplasia, pycnodysostosis (cathepsin K deficiency; MIM 265800), revealed homozygosity for a novel missense mutation (A277V).
|
9529353 |
1998 |