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: C1969056
Disease: LEOPARD SYNDROME 2
LEOPARD SYNDROME 2 		0.800 1.000 0 2007 2007
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C1969057
Disease: Noonan Syndrome 5
Noonan Syndrome 5 		0.800 1.000 0 2007 2010
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: 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: 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: 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: 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: 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: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		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: 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: C0028738
Disease: Nystagmus
Nystagmus 		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: 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: 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: 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: C0020224
Disease: Polyhydramnios
Polyhydramnios 		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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs80338796
rs80338796
RAF1
0.667 0.480 3 12604200 missense variant G/A;C snv 4.0E-06
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
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