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 Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970

1968
dbSNP: rs376607329
rs376607329
PTPN11
A 0.700 GeneticVariation CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970

1968
dbSNP: rs397507520
rs397507520
PTPN11
C 0.700 CausalMutation CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970

1968
dbSNP: rs397507529
rs397507529
PTPN11
G 0.700 CausalMutation CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970

1968
dbSNP: rs397507531
rs397507531
PTPN11
C 0.700 GeneticVariation CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970

1968
dbSNP: rs397507541
rs397507541
PTPN11
T 0.700 CausalMutation CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970

1968
dbSNP: rs397507547
rs397507547
PTPN11
G 0.700 CausalMutation CLINVAR Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease. 4386970

1968
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892

1976
dbSNP: rs376607329
rs376607329
PTPN11
A 0.700 GeneticVariation CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892

1976
dbSNP: rs397507520
rs397507520
PTPN11
C 0.700 CausalMutation CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892

1976
dbSNP: rs397507529
rs397507529
PTPN11
G 0.700 CausalMutation CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892

1976
dbSNP: rs397507531
rs397507531
PTPN11
C 0.700 GeneticVariation CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892

1976
dbSNP: rs397507541
rs397507541
PTPN11
T 0.700 CausalMutation CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892

1976
dbSNP: rs397507547
rs397507547
PTPN11
G 0.700 CausalMutation CLINVAR Multiple lentigines syndrome. Case report and review of the literature. 1258892

1976
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Noonan syndrome: the changing phenotype. 4025385

1985
dbSNP: rs376607329
rs376607329
PTPN11
A 0.700 GeneticVariation CLINVAR Noonan syndrome: the changing phenotype. 4025385

1985
dbSNP: rs397507520
rs397507520
PTPN11
C 0.700 CausalMutation CLINVAR Noonan syndrome: the changing phenotype. 4025385

1985
dbSNP: rs397507529
rs397507529
PTPN11
G 0.700 CausalMutation CLINVAR Noonan syndrome: the changing phenotype. 4025385

1985
dbSNP: rs397507531
rs397507531
PTPN11
C 0.700 GeneticVariation CLINVAR Noonan syndrome: the changing phenotype. 4025385

1985
dbSNP: rs397507541
rs397507541
PTPN11
T 0.700 CausalMutation CLINVAR Noonan syndrome: the changing phenotype. 4025385

1985
dbSNP: rs397507547
rs397507547
PTPN11
G 0.700 CausalMutation CLINVAR Noonan syndrome: the changing phenotype. 4025385

1985
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR A clinical study of Noonan syndrome. 1543375

1992
dbSNP: rs376607329
rs376607329
PTPN11
A 0.700 GeneticVariation CLINVAR A clinical study of Noonan syndrome. 1543375

1992
dbSNP: rs397507520
rs397507520
PTPN11
C 0.700 CausalMutation CLINVAR A clinical study of Noonan syndrome. 1543375

1992
dbSNP: rs397507529
rs397507529
PTPN11
G 0.700 CausalMutation CLINVAR A clinical study of Noonan syndrome. 1543375

1992