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: rs869025574
rs869025574
PTPN11
1.000 0.160 12 112450360 inframe deletion GAT/- delins
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.700 0
dbSNP: rs80338836
rs80338836
PTPN11
1.000 0.160 12 112450357 inframe deletion GTG/- delins
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.700 0
dbSNP: rs727503381
rs727503381
PTPN11
1.000 0.160 12 112454636 missense variant A/T snv 7.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 1 2014 2014
dbSNP: rs727503380
rs727503380
PTPN11
0.925 0.160 12 112450386 missense variant A/T snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.700 1.000 6 2004 2013
dbSNP: rs727503380
rs727503380
PTPN11
0.925 0.160 12 112450386 missense variant A/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 6 2004 2017
dbSNP: rs398122862
rs398122862
PTPN11
1.000 0.120 12 112482073 splice acceptor variant G/T snv
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.700 0
dbSNP: rs398122861
rs398122861
PTPN11
1.000 0.120 12 112455948 splice acceptor variant A/C snv
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.700 0
dbSNP: rs398122860
rs398122860
PTPN11
1.000 0.120 12 112486564 frameshift variant C/- delins
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.700 0
dbSNP: rs398122859
rs398122859
PTPN11
1.000 0.120 12 112453210 frameshift variant CT/- delins
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.700 0
dbSNP: rs398122858
rs398122858
PTPN11
1.000 0.120 12 112453320 frameshift variant CTGGTG/AAGAACACAGGGGAGAGCA delins
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.700 0
dbSNP: rs398122857
rs398122857
PTPN11
1.000 0.120 12 112453271 frameshift variant GTACG/- del
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.700 0
dbSNP: rs397516810
rs397516810
PTPN11
0.925 0.160 12 112477652 missense variant T/G snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.700 1.000 7 2002 2014
dbSNP: rs397516810
rs397516810
PTPN11
0.925 0.160 12 112477652 missense variant T/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 5 2002 2009
dbSNP: rs397516809
rs397516809
PTPN11
1.000 0.160 12 112472961 missense variant G/A;T snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 1 2011 2011
dbSNP: rs397516807
rs397516807
PTPN11
1.000 0.120 12 112455968 frameshift variant A/- del
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.700 1.000 2 2010 2011
dbSNP: rs397516803
rs397516803
PTPN11
1.000 0.160 12 112450415 missense variant C/A snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 3 2003 2012
dbSNP: rs397516802
rs397516802
PTPN11
1.000 0.160 12 112450397 missense variant AC/CT mnv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 5 2003 2012
dbSNP: rs397516801
rs397516801
PTPN11
0.925 0.160 12 112450389 missense variant A/G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 1 2017 2017
dbSNP: rs397516801
rs397516801
PTPN11
0.925 0.160 12 112450389 missense variant A/G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.700 0
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: 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: rs397507549
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.800 1.000 5 2001 2017
dbSNP: rs397507549
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv
CUI: C1866206
Disease: Dysplastic pulmonary valve
Dysplastic pulmonary valve 		0.700 1.000 2 2005 2006
dbSNP: rs397507549
rs397507549
PTPN11
0.742 0.240 12 112489104 missense variant C/A;G snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 1.000 2 2005 2006