Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918453
rs121918453
PTPN11
T 0.700 CausalMutation CLINVAR

dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918456
rs121918456
PTPN11
0.800 GeneticVariation UNIPROT "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""." 16733669

2006
dbSNP: rs121918456
rs121918456
PTPN11
0.800 GeneticVariation UNIPROT A novel PTPN11 mutation in LEOPARD syndrome. 14961557

2003
dbSNP: rs121918456
rs121918456
PTPN11
0.800 GeneticVariation UNIPROT Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. 15121796

2004
dbSNP: rs121918456
rs121918456
PTPN11
0.800 GeneticVariation UNIPROT Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. 15690106

2005
dbSNP: rs121918456
rs121918456
PTPN11
0.800 GeneticVariation UNIPROT Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). 16679933

2006
dbSNP: rs121918456
rs121918456
PTPN11
0.800 GeneticVariation UNIPROT Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. 15389709

2004
dbSNP: rs121918456
rs121918456
PTPN11
0.800 GeneticVariation UNIPROT PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. 15520399

2004
dbSNP: rs121918456
rs121918456
PTPN11
0.800 GeneticVariation UNIPROT Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348

2002
dbSNP: rs121918456
rs121918456
PTPN11
0.800 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: rs121918456
rs121918456
PTPN11
0.800 GeneticVariation UNIPROT A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. 24891296

2014
dbSNP: rs121918456
rs121918456
PTPN11
G 0.800 CausalMutation CLINVAR

dbSNP: rs121918457
rs121918457
PTPN11
0.800 GeneticVariation UNIPROT Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. 15389709

2004
dbSNP: rs121918457
rs121918457
PTPN11
0.800 GeneticVariation UNIPROT Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). 16679933

2006
dbSNP: rs121918457
rs121918457
PTPN11
0.800 GeneticVariation UNIPROT Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348

2002
dbSNP: rs121918457
rs121918457
PTPN11
0.800 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: rs121918457
rs121918457
PTPN11
0.800 GeneticVariation UNIPROT A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. 24891296

2014
dbSNP: rs121918457
rs121918457
PTPN11
0.800 GeneticVariation UNIPROT A novel PTPN11 mutation in LEOPARD syndrome. 14961557

2003
dbSNP: rs121918457
rs121918457
PTPN11
0.800 GeneticVariation UNIPROT PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. 15520399

2004
dbSNP: rs121918457
rs121918457
PTPN11
0.800 GeneticVariation UNIPROT Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. 15690106

2005
dbSNP: rs121918457
rs121918457
PTPN11
0.800 GeneticVariation UNIPROT "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""." 16733669

2006
dbSNP: rs121918457
rs121918457
PTPN11
T 0.800 CausalMutation CLINVAR

dbSNP: rs121918457
rs121918457
PTPN11
0.800 GeneticVariation UNIPROT Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. 15121796

2004