Gene: PTPN11 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1398859175
rs1398859175
PTPN11
G 0.700 GeneticVariation CLINVAR

dbSNP: rs397507518
rs397507518
PTPN11
A 0.700 CausalMutation CLINVAR

dbSNP: rs397507549
rs397507549
PTPN11
G 0.700 CausalMutation CLINVAR "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""." 16733669

2006
dbSNP: rs121918466
rs121918466
PTPN11
0.730 GeneticVariation BEFREE Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling. 16166557

2005
dbSNP: rs121918462
rs121918462
PTPN11
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
PTPN11
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: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells. 20651068

2010
dbSNP: rs121918455
rs121918455
PTPN11
G 0.710 CausalMutation CLINVAR A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey. 20718194

2010
dbSNP: rs727503381
rs727503381
PTPN11
T 0.700 CausalMutation CLINVAR A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions. 24225993

2014
dbSNP: rs397507549
rs397507549
PTPN11
G 0.700 CausalMutation CLINVAR A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. 15889278

2005
dbSNP: rs397507542
rs397507542
PTPN11
T 0.700 CausalMutation CLINVAR A novel PTPN11 gene mutation in a patient with LEOPARD Syndrome. 17875892

2007
dbSNP: rs121918453
rs121918453
PTPN11
T 0.710 CausalMutation CLINVAR A novel PTPN11 mutation in LEOPARD syndrome. 14961557

2003
dbSNP: rs121918459
rs121918459
PTPN11
0.720 GeneticVariation BEFREE A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population. 16498234

2006
dbSNP: rs1057517917
rs1057517917
PTPN11
0.020 GeneticVariation BEFREE A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population. 16498234

2006
dbSNP: rs121918463
rs121918463
PTPN11
G 0.710 CausalMutation CLINVAR A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. 19120036

2009
dbSNP: rs397507531
rs397507531
PTPN11
C 0.700 CausalMutation CLINVAR A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. 19120036

2009
dbSNP: rs397516810
rs397516810
PTPN11
G 0.700 CausalMutation CLINVAR A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. 19120036

2009
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR A suggested role for mitochondria in Noonan syndrome. 19835954

2010
dbSNP: rs397507517
rs397507517
PTPN11
C 0.700 CausalMutation CLINVAR A suggested role for mitochondria in Noonan syndrome. 19835954

2010
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: rs121918453
rs121918453
PTPN11
T 0.710 CausalMutation CLINVAR Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors. 16631468

2006
dbSNP: rs397507509
rs397507509
PTPN11
C 0.710 CausalMutation CLINVAR Acute lymphoblastic leukaemia in Noonan syndrome. 16643459

2006
dbSNP: rs121918456
rs121918456
PTPN11
G 0.710 CausalMutation CLINVAR Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). 16679933

2006
dbSNP: rs397507501
rs397507501
PTPN11
G 0.710 CausalMutation CLINVAR Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect. 16892325

2006
dbSNP: rs397507504
rs397507504
PTPN11
G 0.700 GeneticVariation CLINVAR ALK2 mutation in a patient with Down's syndrome and a congenital heart defect. 21248739

2011