Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557043622
rs1557043622
A 0.700 GeneticVariation CLINVAR SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. 30817854

2019

dbSNP: rs779027563
rs779027563
C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017

dbSNP: rs786200952
rs786200952
CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777

2015

dbSNP: rs1064796738
rs1064796738
T 0.700 CausalMutation CLINVAR Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. 25124931

2014

dbSNP: rs1064796738
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

dbSNP: rs121918459
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

dbSNP: rs137852813
rs137852813
G 0.700 CausalMutation CLINVAR SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. 21387466

2011

dbSNP: rs137852813
rs137852813
G 0.700 CausalMutation CLINVAR Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. 19953625

2010

dbSNP: rs137852813
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

dbSNP: rs1064795945
rs1064795945
T 0.700 GeneticVariation CLINVAR Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations. 19770472

2009

dbSNP: rs137852813
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

dbSNP: rs137852813
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

dbSNP: rs1064795945
rs1064795945
T 0.700 GeneticVariation CLINVAR ASPM is a major determinant of cerebral cortical size. 12355089

2002

dbSNP: rs121918459
rs121918459
G 0.700 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469

2002

dbSNP: rs121918459
rs121918459
G 0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002

dbSNP: rs121918459
rs121918459
G 0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001

dbSNP: rs1043679457
rs1043679457
G 0.700 CausalMutation CLINVAR

dbSNP: rs1057516030
rs1057516030
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1163944538
rs1163944538
GA 0.700 CausalMutation CLINVAR

dbSNP: rs121918494
rs121918494
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1352010373
rs1352010373
C 0.700 CausalMutation CLINVAR

dbSNP: rs1553621496
rs1553621496
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1553655558
rs1553655558
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554208945
rs1554208945
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1560755661
rs1560755661
A 0.700 CausalMutation CLINVAR