rs1555933851
|
1.000 |
|
X |
64919152 |
frameshift variant |
-/G
|
delins
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
2 |
2013 |
2015 |
rs1555933851
|
1.000 |
|
X |
64919152 |
frameshift variant |
-/G
|
delins
|
|
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
2 |
2013 |
2015 |
rs797044863
|
1.000 |
|
X |
64921894 |
stop gained |
G/A
|
snv
|
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2013 |
2015 |
rs797044863
|
1.000 |
|
X |
64921894 |
stop gained |
G/A
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
2 |
2013 |
2015 |
rs797044863
|
1.000 |
|
X |
64921894 |
stop gained |
G/A
|
snv
|
|
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
2 |
2013 |
2015 |
rs1057520297
|
1.000 |
0.240 |
X |
64921845 |
missense variant |
A/T
|
snv
|
|
|
Wieacker-Wolff syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2013 |
2015 |
rs1057520299
|
1.000 |
0.240 |
X |
64976325 |
missense variant |
C/T
|
snv
|
|
9.5E-06
|
Wieacker-Wolff syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2013 |
2015 |
rs398122938
|
1.000 |
0.240 |
X |
64921855 |
missense variant |
C/G
|
snv
|
|
|
Wieacker-Wolff syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2013 |
2015 |
rs398122939
|
1.000 |
0.240 |
X |
64917857 |
missense variant |
G/A
|
snv
|
|
|
Wieacker-Wolff syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2013 |
2015 |
rs879255235
|
1.000 |
0.240 |
X |
64917865 |
missense variant |
C/T
|
snv
|
|
|
Wieacker-Wolff syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2013 |
2015 |
rs879255236
|
1.000 |
0.240 |
X |
64917821 |
missense variant |
G/A
|
snv
|
|
|
Wieacker-Wolff syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2013 |
2015 |
rs1057520298
|
1.000 |
0.240 |
X |
64921812 |
splice region variant |
C/G;T
|
snv
|
|
|
Wieacker-Wolff syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1131691616
|
1.000 |
0.240 |
X |
64921843 |
stop gained |
G/A
|
snv
|
|
|
Wieacker-Wolff syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1260869746
|
1.000 |
0.240 |
X |
64919176 |
stop gained |
G/A;T
|
snv
|
|
1.9E-05
|
Wieacker-Wolff syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555945816
|
1.000 |
0.240 |
X |
64976355 |
frameshift variant |
AT/-
|
del
|
|
|
Wieacker-Wolff syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs750367160
|
1.000 |
0.240 |
X |
64920099 |
inframe deletion |
TTC/-
|
delins
|
5.6E-06
|
|
Wieacker-Wolff syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|