Gene: PTPN11 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Audiological findings in Noonan syndrome. 27619028

2016
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173

2016
dbSNP: rs397507520
rs397507520
PTPN11
C 0.700 CausalMutation CLINVAR Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173

2016
dbSNP: rs397507520
rs397507520
PTPN11
C 0.700 CausalMutation CLINVAR Audiological findings in Noonan syndrome. 27619028

2016
dbSNP: rs397507529
rs397507529
PTPN11
G 0.700 CausalMutation CLINVAR Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173

2016
dbSNP: rs397507529
rs397507529
PTPN11
G 0.700 CausalMutation CLINVAR Audiological findings in Noonan syndrome. 27619028

2016
dbSNP: rs397507531
rs397507531
PTPN11
C 0.700 GeneticVariation CLINVAR Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173

2016
dbSNP: rs397507531
rs397507531
PTPN11
C 0.700 GeneticVariation CLINVAR Audiological findings in Noonan syndrome. 27619028

2016
dbSNP: rs28933386
rs28933386
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 Chronic pain in Noonan Syndrome: A previously unreported but common symptom. 26297936

2015
dbSNP: rs397507520
rs397507520
PTPN11
C 0.700 CausalMutation CLINVAR Chronic pain in Noonan Syndrome: A previously unreported but common symptom. 26297936

2015
dbSNP: rs397507520
rs397507520
PTPN11
C 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: rs397507529
rs397507529
PTPN11
G 0.700 CausalMutation CLINVAR Chronic pain in Noonan Syndrome: A previously unreported but common symptom. 26297936

2015
dbSNP: rs397507529
rs397507529
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: rs397507531
rs397507531
PTPN11
C 0.700 GeneticVariation CLINVAR Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. 26249544

2015
dbSNP: rs397507531
rs397507531
PTPN11
C 0.700 GeneticVariation CLINVAR Chronic pain in Noonan Syndrome: A previously unreported but common symptom. 26297936

2015
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Noonan syndrome and clinically related disorders. 21396583

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

2011