Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507520
rs397507520
C 0.700 CausalMutation CLINVAR Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. 18372317

2008

dbSNP: rs28933386
rs28933386
G 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006

dbSNP: rs397507520
rs397507520
C 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006

dbSNP: rs397507545
rs397507545
C 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006

dbSNP: rs397507545
rs397507545
C 0.700 CausalMutation CLINVAR The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease. 15928039

2005

dbSNP: rs397507545
rs397507545
C 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945

2004

dbSNP: rs397507545
rs397507545
C 0.700 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003

dbSNP: rs397507520
rs397507520
C 0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002

dbSNP: rs28933386
rs28933386
G 0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001

dbSNP: rs121918454
rs121918454
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918457
rs121918457
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918458
rs121918458
A 0.700 CausalMutation CLINVAR

dbSNP: rs121918459
rs121918459
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918460
rs121918460
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918461
rs121918461
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918466
rs121918466
G 0.700 CausalMutation CLINVAR

dbSNP: rs397507514
rs397507514
C 0.700 CausalMutation CLINVAR

dbSNP: rs397507517
rs397507517
C 0.700 CausalMutation CLINVAR

dbSNP: rs397507531
rs397507531
C 0.700 CausalMutation CLINVAR

dbSNP: rs397507540
rs397507540
T 0.700 CausalMutation CLINVAR

dbSNP: rs397507545
rs397507545
A 0.700 CausalMutation CLINVAR