Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507545
rs397507545
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.710 CausalMutation CLINVAR Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100

2017
dbSNP: rs397507545
rs397507545
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.710 CausalMutation CLINVAR We report the case of a 18 month-old boy, evaluated in a multidisciplinary way, with clinic and molecular diagnosis of Noonan syndrome, with the missense mutation in PTPN11 gene, G503R (c.1507 G>A). 23513489

2012
dbSNP: rs397507545
rs397507545
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.710 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: rs397507545
rs397507545
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.710 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: rs397507545
rs397507545
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.710 CausalMutation CLINVAR Clinical and molecular characterization of 40 patients with Noonan syndrome. 18678287

2009
dbSNP: rs397507545
rs397507545
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.710 CausalMutation CLINVAR The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. 18470943

2008
dbSNP: rs397507545
rs397507545
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.710 CausalMutation CLINVAR We describe the previously unreported condition of Hodgkin's lymphoma in a patient with Noonan syndrome caused by germ-line mutations (1507G > C, Gly503Arg) in exon 13 of the PTPN11 gene. 18758896

2008
dbSNP: rs397507545
rs397507545
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.710 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs397507545
rs397507545
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.710 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs397507545
rs397507545
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.710 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005
dbSNP: rs397507545
rs397507545
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.710 CausalMutation CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945

2004
dbSNP: rs397507545
rs397507545
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.710 CausalMutation CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218

2003
dbSNP: rs397507545
rs397507545
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.710 CausalMutation CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218

2003
dbSNP: rs397507545
rs397507545
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		A 0.710 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs397507545
rs397507545
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		C 0.710 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003