Gene: PTPN11 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918466
rs121918466
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs397507520
rs397507520
PTPN11
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918459
rs121918459
PTPN11
G 0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. 12325025

2002
dbSNP: rs397507510
rs397507510
PTPN11
A 0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs397516810
rs397516810
PTPN11
G 0.700 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs121918459
rs121918459
PTPN11
G 0.700 CausalMutation CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218

2003
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
dbSNP: rs397507510
rs397507510
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
dbSNP: rs397507512
rs397507512
PTPN11
C 0.700 GeneticVariation 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
dbSNP: rs397507531
rs397507531
PTPN11
C 0.700 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. 15248152

2004
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. 15248152

2004
dbSNP: rs121918468
rs121918468
PTPN11
A 0.700 CausalMutation CLINVAR Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. 15389709

2004
dbSNP: rs121918470
rs121918470
PTPN11
C 0.700 CausalMutation CLINVAR PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. 15520399

2004
dbSNP: rs397507510
rs397507510
PTPN11
A 0.700 CausalMutation CLINVAR Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997

2004
dbSNP: rs397507510
rs397507510
PTPN11
A 0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945

2004
dbSNP: rs397507510
rs397507510
PTPN11
A 0.700 CausalMutation CLINVAR PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group. 15385933

2004
dbSNP: rs727503380
rs727503380
PTPN11
T 0.700 GeneticVariation CLINVAR Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. 15604238

2004
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome. 15956085

2005
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. 15723289

2005
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells. 15761018

2005
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 15987685

2005
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome. 15985475

2005