rs786204973
|
1.000 |
0.160 |
X |
18506933 |
splice acceptor variant |
A/G
|
snv
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs267608415
|
1.000 |
0.160 |
X |
18507133 |
frameshift variant |
T/-
|
delins
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs267608418
|
1.000 |
0.160 |
X |
18507154 |
missense variant |
G/C
|
snv
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs587783406
|
1.000 |
0.160 |
X |
18507158 |
missense variant |
A/G
|
snv
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs267608419
|
1.000 |
0.160 |
X |
18507162 |
splice donor variant |
T/-
|
del
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs267608420
|
1.000 |
0.160 |
X |
18510818 |
splice region variant |
-/G
|
delins
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555940536
|
1.000 |
0.160 |
X |
18510844 |
missense variant |
G/A
|
snv
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs786204991
|
1.000 |
0.160 |
X |
18510846 |
missense variant |
A/G
|
snv
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs267608421
|
0.925 |
0.160 |
X |
18510855 |
splice donor variant |
G/T
|
snv
|
|
|
West Syndrome
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs267608421
|
0.925 |
0.160 |
X |
18510855 |
splice donor variant |
G/T
|
snv
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs587783131
|
1.000 |
0.160 |
X |
18510859 |
splice region variant |
G/A
|
snv
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs267608423
|
1.000 |
0.160 |
X |
18564475 |
splice acceptor variant |
A/G
|
snv
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs122460159
|
0.807 |
0.200 |
X |
18564496 |
missense variant |
C/T
|
snv
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
6 |
2008 |
2017 |
rs122460159
|
0.807 |
0.200 |
X |
18564496 |
missense variant |
C/T
|
snv
|
|
|
Drug Resistant Epilepsy
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs122460159
|
0.807 |
0.200 |
X |
18564496 |
missense variant |
C/T
|
snv
|
|
|
Epilepsy
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs122460159
|
0.807 |
0.200 |
X |
18564496 |
missense variant |
C/T
|
snv
|
|
|
X-linked infantile spasms
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs122460159
|
0.807 |
0.200 |
X |
18564496 |
missense variant |
C/T
|
snv
|
|
|
Rett Syndrome, Atypical
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs122460159
|
0.807 |
0.200 |
X |
18564496 |
missense variant |
C/T
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs267608429
|
1.000 |
0.160 |
X |
18564502 |
missense variant |
A/G
|
snv
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs267608430
|
1.000 |
0.080 |
X |
18564524 |
splice donor variant |
T/C
|
snv
|
2.0E-04
|
|
Rett Syndrome, Atypical
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587783399
|
1.000 |
0.160 |
X |
18575353 |
splice acceptor variant |
G/A
|
snv
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs267608433
|
0.925 |
0.200 |
X |
18575368 |
frameshift variant |
GAAA/-
|
delins
|
|
|
Rett Syndrome, Atypical
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs267608433
|
0.925 |
0.200 |
X |
18575368 |
frameshift variant |
GAAA/-
|
delins
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs875989950
|
1.000 |
0.160 |
X |
18575381 |
stop gained |
T/A
|
snv
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs62653623
|
0.851 |
0.240 |
X |
18575383 |
stop gained |
C/T
|
snv
|
|
|
Craniodiaphyseal dysplasia
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
0.010 |
1.000 |
1 |
2019 |
2019 |