rs1557043622
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs779027563
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
|
27668699 |
2017 |
rs786200952
|
|
CT |
0.700 |
CausalMutation |
CLINVAR |
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
|
25728777 |
2015 |
rs1064796738
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.
|
25124931 |
2014 |
rs1064796738
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.
|
25115524 |
2014 |
rs121918459
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
|
22711529 |
2012 |
rs137852813
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
|
21387466 |
2011 |
rs137852813
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
|
19953625 |
2010 |
rs137852813
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
|
20683980 |
2010 |
rs1064795945
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.
|
19770472 |
2009 |
rs137852813
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
|
19020799 |
2008 |
rs137852813
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
|
17586837 |
2007 |
rs1064795945
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
ASPM is a major determinant of cerebral cortical size.
|
12355089 |
2002 |
rs121918459
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.
|
12161469 |
2002 |
rs121918459
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.
|
11992261 |
2002 |
rs121918459
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
|
11704759 |
2001 |
rs1043679457
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057516030
|
|
TA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1163944538
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121918494
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1352010373
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1553621496
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1553655558
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554208945
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1560755661
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|