rs1555640521
|
0.790 |
0.320 |
18 |
6942110 |
frameshift variant |
A/-
|
delins
|
|
|
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555643185
|
1.000 |
0.280 |
18 |
6956661 |
frameshift variant |
-/CTTGCTG
|
delins
|
|
|
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555654766
|
1.000 |
0.280 |
18 |
7023202 |
missense variant |
C/A;T
|
snv
|
|
|
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1555656402
|
1.000 |
0.280 |
18 |
7032124 |
missense variant |
C/T
|
snv
|
|
|
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1568019012
|
0.790 |
0.360 |
18 |
6985616 |
stop gained |
G/A
|
snv
|
|
|
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs587777677
|
1.000 |
0.280 |
18 |
7050692 |
splice donor variant |
A/C
|
snv
|
|
|
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs587777678
|
1.000 |
0.280 |
18 |
6956768 |
splice region variant |
GTAGAAACAAGAG/-
|
delins
|
|
|
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs587777679
|
1.000 |
0.280 |
18 |
7016494 |
frameshift variant |
T/-
|
del
|
1.2E-05
|
2.8E-05
|
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs587777680
|
1.000 |
0.280 |
18 |
7016663 |
frameshift variant |
TA/-
|
delins
|
|
|
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs587777681
|
1.000 |
0.280 |
18 |
7050727 |
stop gained |
A/C
|
snv
|
|
|
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs797045182
|
1.000 |
0.280 |
18 |
6973130 |
frameshift variant |
G/-
|
delins
|
|
|
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs797045184
|
1.000 |
0.280 |
18 |
6977724 |
splice region variant |
C/G
|
snv
|
|
|
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |