Gene: PTPN11 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507509
rs397507509
PTPN11
C 0.710 CausalMutation CLINVAR [Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation]. 17546245

2007
dbSNP: rs397507540
rs397507540
PTPN11
A 0.700 CausalMutation CLINVAR [Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation]. 17546245

2007
dbSNP: rs121918456
rs121918456
PTPN11
G 0.710 CausalMutation CLINVAR [Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome]. 14634749

2003
dbSNP: rs121918453
rs121918453
PTPN11
T 0.710 CausalMutation CLINVAR Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007
dbSNP: rs397507514
rs397507514
PTPN11
T 0.710 CausalMutation CLINVAR Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007
dbSNP: rs121918453
rs121918453
PTPN11
0.710 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007
dbSNP: rs397507514
rs397507514
PTPN11
0.710 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007
dbSNP: rs121918454
rs121918454
PTPN11
0.710 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007
dbSNP: rs121918464
rs121918464
PTPN11
0.010 GeneticVariation BEFREE Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays. 17177198

2007
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR We showed previously that knock-in mice bearing the NS mutant Ptpn11(D61G) on a mixed 129S4/SvJae X C57BL6/J background exhibit all major NS features, including a variety of cardiac defects, with variable penetrance. 19251646

2009
dbSNP: rs397507545
rs397507545
PTPN11
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: rs121918461
rs121918461
PTPN11
0.720 GeneticVariation BEFREE We report on a fetus with Noonan syndrome and a missense mutation c.182A > C (p.Asp61Ala) of PTPN11 who responded poorly to antenatal pleurodesis by OK-432. 19927903

2009
dbSNP: rs121918461
rs121918461
PTPN11
C 0.720 GeneticVariation CLINVAR We report on a fetus with Noonan syndrome and a missense mutation c.182A > C (p.Asp61Ala) of PTPN11 who responded poorly to antenatal pleurodesis by OK-432. 19927903

2009
dbSNP: rs397507548
rs397507548
PTPN11
0.010 GeneticVariation BEFREE We report on a 26-year-old female with features of Noonan syndrome-Multiple Lentigines and a heterozygous mutation: c.1517A > C-p.Gln506Pro in the PTPN11 gene. 22528600

2012
dbSNP: rs397509345
rs397509345
PTPN11
0.010 GeneticVariation BEFREE We report on a 26-year-old female with features of Noonan syndrome-Multiple Lentigines and a heterozygous mutation: c.1517A > C-p.Gln506Pro in the PTPN11 gene. 22528600

2012
dbSNP: rs121918461
rs121918461
PTPN11
G 0.720 CausalMutation CLINVAR We report here that early postnatal growth delay is associated with low levels of insulin-like growth factor 1 (IGF-1) in a mouse model of NS expressing the D61G mutant of SHP2. 22371576

2012
dbSNP: rs121918462
rs121918462
PTPN11
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: rs121918456
rs121918456
PTPN11
G 0.710 CausalMutation CLINVAR We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the Noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or café au lait spots. 12161596

2002
dbSNP: rs121918456
rs121918456
PTPN11
0.710 GeneticVariation BEFREE We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the Noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or café au lait spots. 12161596

2002
dbSNP: rs121918459
rs121918459
PTPN11
G 0.720 CausalMutation CLINVAR We herein report a large family demonstrating NS caused by one of the common PTPN11 mutations, c.188 A > G (Y63C). 16498234

2006
dbSNP: rs397507545
rs397507545
PTPN11
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: rs121918466
rs121918466
PTPN11
G 0.730 CausalMutation CLINVAR We created a NS mouse model with selective overexpression of mutant Shp2 (Q79R-Shp2) in the developing endocardial cushions. 19017799

2008
dbSNP: rs121918466
rs121918466
PTPN11
0.730 GeneticVariation BEFREE We created a NS mouse model with selective overexpression of mutant Shp2 (Q79R-Shp2) in the developing endocardial cushions. 19017799

2008
dbSNP: rs121918453
rs121918453
PTPN11
T 0.710 CausalMutation CLINVAR Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. 16399795

2006
dbSNP: rs397507501
rs397507501
PTPN11
0.710 GeneticVariation BEFREE This mutation affected the phosphotyrosine-binding region in the N-terminal src homology 2 domain and was close to a Noonan syndrome mutation (p.T42A). 15940693

2005