Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507506
rs397507506
PTPN11
A 0.700 CausalMutation CLINVAR Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing. 25914815

2015
dbSNP: rs397507506
rs397507506
PTPN11
A 0.700 CausalMutation CLINVAR Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. 23321623

2013
dbSNP: rs397507506
rs397507506
PTPN11
A 0.700 CausalMutation CLINVAR Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. 22465605

2012
dbSNP: rs397507506
rs397507506
PTPN11
A 0.700 CausalMutation CLINVAR RASopathies: Clinical Diagnosis in the First Year of Life. 22190897

2011
dbSNP: rs397507506
rs397507506
PTPN11
A 0.700 CausalMutation CLINVAR Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. 20954246

2010
dbSNP: rs397507506
rs397507506
PTPN11
A 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs397507506
rs397507506
PTPN11
A 0.700 CausalMutation CLINVAR Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. 12634870

2003