Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918462
rs121918462
0.740 GeneticVariation BEFREE Here, we report a Japanese female infant with NS carrying the PTPN11 T73I mutation with NS/MPD, complete atrio-ventricular septal defect, and rapidly progressive HCM. 26286251

2015

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. 24718990

2014

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206

2014

dbSNP: rs121918462
rs121918462
0.740 GeneticVariation BEFREE A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome. 23446178

2013

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR Relapsed childhood high hyperdiploid acute lymphoblastic leukemia: presence of preleukemic ancestral clones and the secondary nature of microdeletions and RTK-RAS mutations. 20237506

2010

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR We report a patient with classical cardinal features of NS, including short stature, mild ptosis, hypertelorism, down-slating palpebral fissures, low-set and posteriorly angulated ears, short neck, pectus excavatum, widely spaced nipples and cryptochidism, which were associated with bilateral central giant cell lesions in the mandible and germ-line mutation (C218T, Thr73Ile) in the exon 3 of the PTPN11 gene. 20383758

2010

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR Characterization of acute myeloid leukemia with PTPN11 mutation: the mutation is closely associated with NPM1 mutation but inversely related to FLT3/ITD. 17972951

2008

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia. 17910045

2008

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients. 18331608

2008

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470

2006

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR Somatic PTPN11 mutations in childhood acute myeloid leukaemia. 15842656

2005

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 15987685

2005

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia. 16115145

2005

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR Eight of 19 patients with NS/MPD carried the Thr73Ile substitution. 15928039

2005

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR In one patient with NS and mild juvenile myelomonocytic leukemia (JMML) the mutation 218C --> T (Thr73Ile) was found. 15723289

2005

dbSNP: rs121918462
rs121918462
0.740 GeneticVariation BEFREE In one patient with NS and mild juvenile myelomonocytic leukemia (JMML) the mutation 218C --> T (Thr73Ile) was found. 15723289

2005

dbSNP: rs121918462
rs121918462
0.740 GeneticVariation BEFREE A 218C-->T mutation was found in exon 3 in one patient with Noonan syndrome and mild juvenile myelomonocytic leukaemia. 15539800

2004

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997

2004

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group. 15385933

2004

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome. 15240615

2004

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR Mutations in PTPN11 are uncommon in adult myelodysplastic syndromes and acute myeloid leukaemia. 15009076

2004

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002

dbSNP: rs121918462
rs121918462
T 0.740 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469

2002