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: C1867873
Disease: Failure to thrive in infancy
Failure to thrive in infancy 		0.700 0
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C4014656
Disease: CARDIOMYOPATHY, DILATED, 1NN
CARDIOMYOPATHY, DILATED, 1NN 		0.700 0
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		0.700 0
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.700 0
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0038379
Disease: Strabismus
Strabismus 		0.700 0
dbSNP: rs80338798
rs80338798
RAF1
0.925 0.160 3 12585761 missense variant C/T snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.700 0
dbSNP: rs80338799
rs80338799
RAF1
0.882 0.160 3 12585745 missense variant G/A;C snv
CUI: C0175704
Disease: LEOPARD Syndrome
LEOPARD Syndrome 		0.700 0
dbSNP: rs886039607
rs886039607
RAF1
0.925 0.160 3 12608842 missense variant C/G snv
CUI: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2 		0.700 0
dbSNP: rs886039607
rs886039607
RAF1
0.925 0.160 3 12608842 missense variant C/G snv
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.700 0
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: 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: 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: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		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: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		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: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		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: C0028738
Disease: Nystagmus
Nystagmus 		0.700 1.000 2 2007 2007