rs80338796
|
0.667 |
0.480 |
3 |
12604200 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
15 |
2006 |
2016 |
rs80338796
|
0.667 |
0.480 |
3 |
12604200 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
15 |
2006 |
2016 |
rs80338796
|
0.667 |
0.480 |
3 |
12604200 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
15 |
2006 |
2016 |
rs80338797
|
0.827 |
0.160 |
3 |
12584624 |
missense variant |
G/C;T
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
15 |
2006 |
2016 |
rs80338797
|
0.827 |
0.160 |
3 |
12584624 |
missense variant |
G/C;T
|
snv
|
|
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
15 |
2006 |
2016 |
rs80338796
|
0.667 |
0.480 |
3 |
12604200 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
10 |
1992 |
2018 |
rs80338797
|
0.827 |
0.160 |
3 |
12584624 |
missense variant |
G/C;T
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.710 |
1.000 |
8 |
2007 |
2018 |
rs121434594
|
0.827 |
0.160 |
3 |
12604189 |
missense variant |
G/A;C;T
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
6 |
2007 |
2013 |
rs3730271
|
1.000 |
0.160 |
3 |
12604195 |
missense variant |
A/C;G;T
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
6 |
2003 |
2014 |
rs397516828
|
0.925 |
0.160 |
3 |
12604188 |
missense variant |
G/A;C
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
2007 |
2015 |
rs80338797
|
0.827 |
0.160 |
3 |
12584624 |
missense variant |
G/C;T
|
snv
|
|
|
LEOPARD Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
5 |
2007 |
2010 |
rs121434594
|
0.827 |
0.160 |
3 |
12604189 |
missense variant |
G/A;C;T
|
snv
|
|
|
Noonan Syndrome 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
4 |
2007 |
2010 |
rs397516827
|
0.882 |
0.160 |
3 |
12604194 |
missense variant |
G/A;C;T
|
snv
|
|
|
Noonan Syndrome 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
4 |
2007 |
2010 |
rs397516828
|
0.925 |
0.160 |
3 |
12604188 |
missense variant |
G/A;C
|
snv
|
|
|
Noonan Syndrome 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
4 |
2007 |
2010 |
rs397516830
|
0.827 |
0.160 |
3 |
12604182 |
missense variant |
A/C;G;T
|
snv
|
|
|
Noonan Syndrome 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
4 |
2007 |
2010 |
rs80338797
|
0.827 |
0.160 |
3 |
12584624 |
missense variant |
G/C;T
|
snv
|
|
|
Noonan Syndrome 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
4 |
2007 |
2010 |
rs1448392469
|
1.000 |
0.160 |
3 |
12584627 |
missense variant |
A/T
|
snv
|
|
|
Noonan Syndrome 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2007 |
2010 |
rs397516815
|
0.925 |
0.160 |
3 |
12585760 |
missense variant |
T/C
|
snv
|
|
|
Noonan Syndrome 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2007 |
2010 |
rs397516826
|
0.925 |
0.160 |
3 |
12604202 |
missense variant |
C/A;G
|
snv
|
|
|
Noonan Syndrome 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2007 |
2010 |
rs727505017
|
0.882 |
0.200 |
3 |
12604201 |
missense variant |
A/G;T
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2002 |
2007 |
rs80338796
|
0.667 |
0.480 |
3 |
12604200 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Hypertrophic Cardiomyopathy
|
Cardiovascular Diseases
|
0.710 |
1.000 |
3 |
2007 |
2016 |
rs80338796
|
0.667 |
0.480 |
3 |
12604200 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
LEOPARD Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2007 |
2015 |
rs80338796
|
0.667 |
0.480 |
3 |
12604200 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Noonan Syndrome 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.800 |
1.000 |
3 |
2007 |
2010 |
rs80338798
|
0.925 |
0.160 |
3 |
12585761 |
missense variant |
C/T
|
snv
|
|
|
Noonan Syndrome 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2007 |
2010 |
rs80338799
|
0.882 |
0.160 |
3 |
12585745 |
missense variant |
G/A;C
|
snv
|
|
|
Noonan Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
0.700 |
1.000 |
3 |
2007 |
2007 |