Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918456
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.710 1.000 15 2002 2011
dbSNP: rs121918456
rs121918456
PTPN11
0.752 0.280 12 112473023 missense variant A/C;G snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.800 1.000 15 2002 2019
dbSNP: rs397507520
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.710 1.000 15 2002 2013
dbSNP: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.700 1.000 14 2003 2009
dbSNP: rs397507509
rs397507509
PTPN11
0.807 0.240 12 112450359 missense variant G/C;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.710 1.000 14 2002 2014
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.720 0.923 13 2001 2013
dbSNP: rs28933386
rs28933386
PTPN11
0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.720 1.000 13 2001 2019
dbSNP: rs397507540
rs397507540
PTPN11
0.851 0.160 12 112489048 missense variant C/A;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 13 2004 2014
dbSNP: rs121918458
rs121918458
PTPN11
0.807 0.320 12 112489080 missense variant T/A;G snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.700 1.000 12 2002 2013
dbSNP: rs121918458
rs121918458
PTPN11
0.807 0.320 12 112489080 missense variant T/A;G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 12 2002 2013
dbSNP: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.700 1.000 11 2003 2016
dbSNP: rs121918465
rs121918465
PTPN11
0.827 0.200 12 112450407 missense variant A/C;G;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.800 1.000 11 2003 2016
dbSNP: rs121918466
rs121918466
PTPN11
0.752 0.280 12 112450416 missense variant A/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.730 1.000 11 2001 2009
dbSNP: rs397507545
rs397507545
PTPN11
0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.800 1.000 11 2003 2017
dbSNP: rs397507545
rs397507545
PTPN11
0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.710 1.000 11 2003 2019
dbSNP: rs397507512
rs397507512
PTPN11
0.925 0.160 12 112450391 missense variant T/C;G snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.700 1.000 10 2003 2016
dbSNP: rs397507549
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 10 2005 2012
dbSNP: rs397507549
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.740 1.000 10 2005 2017
dbSNP: rs397507514
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.710 1.000 9 2001 2011
dbSNP: rs397507517
rs397507517
PTPN11
0.827 0.160 12 112450497 missense variant A/C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 9 2002 2011
dbSNP: rs397507529
rs397507529
PTPN11
0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.710 1.000 9 2001 2011
dbSNP: rs397507529
rs397507529
PTPN11
0.851 0.160 12 112473031 missense variant A/G snv 7.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 9 2001 2011
dbSNP: rs397507548
rs397507548
PTPN11
0.851 0.160 12 112489093 missense variant A/C snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.720 1.000 9 2003 2019
dbSNP: rs397507549
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.700 1.000 9 2006 2015
dbSNP: rs121918455
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.710 1.000 8 2002 2017