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: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.800 1.000 0 2001 2017
dbSNP: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.800 1.000 0 2003 2016
dbSNP: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.710 1.000 7 2001 2014
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: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.700 1.000 1 2016 2016
dbSNP: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
NEUROBLASTOMA, SUSCEPTIBILITY TO 		0.700 1.000 1 2016 2016
dbSNP: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.700 1.000 1 2016 2016
dbSNP: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C1853638
Disease: Broad neck
Broad neck 		0.700 0
dbSNP: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.700 0
dbSNP: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis 		0.700 0
dbSNP: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 0
dbSNP: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		0.700 0
dbSNP: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs121918454
rs121918454
PTPN11
0.742 0.280 12 112450395 missense variant C/A;G;T snv
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.700 0