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: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 15 2006 2016
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 15 2006 2016
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 15 2006 2016
dbSNP: rs80338797
rs80338797
RAF1
0.827 0.160 3 12584624 missense variant G/C;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 15 2006 2016
dbSNP: rs80338797
rs80338797
RAF1
0.827 0.160 3 12584624 missense variant G/C;T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 15 2006 2016
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 10 1992 2018
dbSNP: rs80338797
rs80338797
RAF1
0.827 0.160 3 12584624 missense variant G/C;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.710 1.000 7 2007 2018
dbSNP: rs121434594
rs121434594
RAF1
0.827 0.160 3 12604189 missense variant G/A;C;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 6 2007 2013
dbSNP: rs3730271
rs3730271
RAF1
1.000 0.160 3 12604195 missense variant A/C;G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 6 2003 2014
dbSNP: rs397516828
rs397516828
RAF1
0.925 0.160 3 12604188 missense variant G/A;C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 5 2007 2015
dbSNP: rs80338797
rs80338797
RAF1
0.827 0.160 3 12584624 missense variant G/C;T snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.700 1.000 5 2007 2010
dbSNP: rs727505017
rs727505017
RAF1
0.882 0.200 3 12604201 missense variant A/G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 3 2002 2007
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.700 1.000 3 2007 2015
dbSNP: rs80338799
rs80338799
RAF1
0.882 0.160 3 12585745 missense variant G/A;C snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 3 2007 2007
dbSNP: rs121434594
rs121434594
RAF1
0.827 0.160 3 12604189 missense variant G/A;C;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 1.000 2 2007 2007
dbSNP: rs397516827
rs397516827
RAF1
0.882 0.160 3 12604194 missense variant G/A;C;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 2 2007 2007
dbSNP: rs397516829
rs397516829
RAF1
1.000 0.160 3 12604184 missense variant A/T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 2 2002 2010
dbSNP: rs397516830
rs397516830
RAF1
0.827 0.160 3 12604182 missense variant A/C;G;T snv
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.700 1.000 2 2007 2007
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.700 1.000 2 2007 2007
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0348872
Disease: Disorders of both mitral and tricuspid valves
Disorders of both mitral and tricuspid valves 		0.700 1.000 2 2007 2007
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 2 2007 2007
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C1383860
Disease: Cardiac Hypertrophy
Cardiac Hypertrophy 		0.700 1.000 2 2007 2007
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 2 2007 2007
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.710 1.000 2 2007 2016
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.700 1.000 2 2007 2007