Gene: PTPN11 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397507541
rs397507541
PTPN11
T 0.700 CausalMutation CLINVAR Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. 26249544

2015
dbSNP: rs397507547
rs397507547
PTPN11
G 0.700 CausalMutation CLINVAR Chronic pain in Noonan Syndrome: A previously unreported but common symptom. 26297936

2015
dbSNP: rs397507547
rs397507547
PTPN11
G 0.700 CausalMutation CLINVAR Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. 26249544

2015
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. 21500339

2011
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. 21533187

2011
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Noonan syndrome and clinically related disorders. 21396583

2011
dbSNP: rs376607329
rs376607329
PTPN11
A 0.700 GeneticVariation CLINVAR Noonan syndrome and clinically related disorders. 21396583

2011
dbSNP: rs376607329
rs376607329
PTPN11
A 0.700 GeneticVariation CLINVAR Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. 21500339

2011
dbSNP: rs376607329
rs376607329
PTPN11
A 0.700 GeneticVariation CLINVAR Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. 21533187

2011
dbSNP: rs397507520
rs397507520
PTPN11
C 0.700 CausalMutation CLINVAR Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. 21533187

2011
dbSNP: rs397507520
rs397507520
PTPN11
C 0.700 CausalMutation CLINVAR Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. 21500339

2011
dbSNP: rs397507520
rs397507520
PTPN11
C 0.700 CausalMutation CLINVAR Noonan syndrome and clinically related disorders. 21396583

2011
dbSNP: rs397507529
rs397507529
PTPN11
G 0.700 CausalMutation CLINVAR Noonan syndrome and clinically related disorders. 21396583

2011
dbSNP: rs397507529
rs397507529
PTPN11
G 0.700 CausalMutation CLINVAR Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. 21533187

2011
dbSNP: rs397507529
rs397507529
PTPN11
G 0.700 CausalMutation CLINVAR Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. 21500339

2011
dbSNP: rs397507531
rs397507531
PTPN11
C 0.700 GeneticVariation CLINVAR Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. 21500339

2011
dbSNP: rs397507531
rs397507531
PTPN11
C 0.700 GeneticVariation CLINVAR Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. 21533187

2011
dbSNP: rs397507531
rs397507531
PTPN11
C 0.700 GeneticVariation CLINVAR Noonan syndrome and clinically related disorders. 21396583

2011
dbSNP: rs397507541
rs397507541
PTPN11
T 0.700 CausalMutation CLINVAR Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. 21500339

2011
dbSNP: rs397507541
rs397507541
PTPN11
T 0.700 CausalMutation CLINVAR Noonan syndrome and clinically related disorders. 21396583

2011
dbSNP: rs397507541
rs397507541
PTPN11
T 0.700 CausalMutation CLINVAR Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. 21533187

2011
dbSNP: rs397507547
rs397507547
PTPN11
G 0.700 CausalMutation CLINVAR Noonan syndrome and clinically related disorders. 21396583

2011
dbSNP: rs397507547
rs397507547
PTPN11
G 0.700 CausalMutation CLINVAR Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. 21533187

2011
dbSNP: rs397507547
rs397507547
PTPN11
G 0.700 CausalMutation CLINVAR Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. 21500339

2011
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. 19467855

2009