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: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.800 1.000 0 2001 2017
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 20 1968 2016
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 20 1968 2016
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.700 1.000 8 2003 2009
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 5 2002 2009
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 0
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		0.700 0
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C0423798
Disease: Increased tendency to bruise
Increased tendency to bruise 		0.700 0
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0.700 0
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C0410530
Disease: Metachondromatosis
Metachondromatosis 		0.700 0
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia 		0.700 0
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.700 0
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C0575897
Disease: Thumb deformity
Thumb deformity 		0.700 0
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		0.700 0
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.700 0
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.700 0
dbSNP: rs397507531
rs397507531
PTPN11
0.752 0.320 12 112473040 missense variant T/C;G snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0