Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918464
rs121918464
PTPN11
0.870 GeneticVariation BEFREE Somatic mutation (E76Q) in the interface of SH2-PTP domain is the most commonly identified mutation found in up to 35% of patients with JMML. 31244092

2019
dbSNP: rs121918464
rs121918464
PTPN11
0.870 GeneticVariation BEFREE We established mutated and non-mutated induced pluripotent stem cell (iPSC) clones from a patient with PTPN11 (c.226G>A)-mutated juvenile myelomonocytic leukaemia (JMML). 31222725

2019
dbSNP: rs121918464
rs121918464
PTPN11
0.870 GeneticVariation BEFREE Somatic mutation E76K in SHP2 is the most commonly identified mutation found in up to 35% of patients with JMML. 30129165

2018
dbSNP: rs121918464
rs121918464
PTPN11
0.870 GeneticVariation BEFREE Activating mutations, such as E76K and D61Y, in PTPN11 (SHP2), a protein tyrosine phosphatase implicated in multiple cell signaling processes, are associated with 35% of patients with juvenile myelomonocytic leukemia (JMML), an aggressive childhood myeloproliferative neoplasm (MPN). 27840422

2017
dbSNP: rs121918464
rs121918464
PTPN11
0.870 GeneticVariation UNIPROT Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling. 26742426

2016
dbSNP: rs121918464
rs121918464
PTPN11
0.870 GeneticVariation BEFREE This report describes a juvenile myelomonocytic leukemia (JMML) case with a typical PTPN11 mutation (p.E76K) at different allele frequencies in the bone marrow mononuclear cells, buccal smear cells, and fingernails at diagnosis, which was suggestive of PTPN11 somatic mosaicism; however, the PTPN11 mutation in the buccal smear cells and fingernails was lost after unrelated cord blood transplantation. 26440969

2015
dbSNP: rs121918464
rs121918464
PTPN11
0.870 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014
dbSNP: rs121918464
rs121918464
PTPN11
0.870 GeneticVariation BEFREE Ptpn11(E76K) mutation is the most common and most active Ptpn11 mutation found in JMML and acute leukemias. 21930766

2011
dbSNP: rs121918464
rs121918464
PTPN11
0.870 GeneticVariation BEFREE Glu76 was the most commonly affected residue in JMML (n = 45), with the Glu76Lys alteration (n = 29) being most frequent. 15928039

2005
dbSNP: rs121918464
rs121918464
PTPN11
0.870 GeneticVariation UNIPROT Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs121918464
rs121918464
PTPN11
A 0.870 CausalMutation CLINVAR