rs104894930
|
0.882 |
0.040 |
X |
18642071 |
missense variant |
G/A
|
snv
|
|
|
Retinoschisis
|
Eye Diseases
|
0.700 |
|
0 |
|
|
rs1057517433
|
1.000 |
|
X |
18642006 |
stop lost |
A/G
|
snv
|
|
|
RETINOSCHISIS 1, X-LINKED, JUVENILE
|
|
0.700 |
|
0 |
|
|
rs1057518203
|
1.000 |
0.160 |
X |
18603930 |
stop gained |
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 |
|
0 |
|
|
rs1057518759
|
1.000 |
0.040 |
X |
18604394 |
frameshift variant |
-/GC
|
delins
|
|
|
Epileptic encephalopathy
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057518759
|
1.000 |
0.040 |
X |
18604394 |
frameshift variant |
-/GC
|
delins
|
|
|
Developmental delay (disorder)
|
Mental Disorders
|
0.700 |
|
0 |
|
|
rs1057519541
|
1.000 |
0.040 |
X |
18628515 |
stop gained |
C/T
|
snv
|
|
|
Epilepsies, Partial
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057519542
|
1.000 |
0.040 |
X |
18604372 |
frameshift variant |
-/GACC
|
delins
|
|
|
Epileptic encephalopathy
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060501859
|
1.000 |
0.160 |
X |
18598460 |
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 |
|
|
rs1060501860
|
1.000 |
0.160 |
X |
18608887 |
frameshift variant |
C/-
|
delins
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs122460157
|
0.882 |
0.200 |
X |
18581942 |
missense variant |
G/A;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 |
|
|
rs122460157
|
0.882 |
0.200 |
X |
18581942 |
missense variant |
G/A;T
|
snv
|
|
|
Rett Syndrome, Atypical
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs122460157
|
0.882 |
0.200 |
X |
18581942 |
missense variant |
G/A;T
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs122460158
|
0.925 |
0.200 |
X |
18628374 |
stop gained |
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 |
|
0 |
|
|
rs122460158
|
0.925 |
0.200 |
X |
18628374 |
stop gained |
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
|
|
|
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 |
|
|
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 |
|
|
rs1555949009
|
1.000 |
0.160 |
X |
18575384 |
missense variant |
G/A;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 |
|
|
rs1555949041
|
1.000 |
0.160 |
X |
18575452 |
frameshift variant |
A/-
|
del
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555949763
|
1.000 |
0.160 |
X |
18581940 |
frameshift variant |
G/-
|
del
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555950066
|
1.000 |
0.160 |
X |
18584307 |
stop gained |
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 |
|
|
rs1555950083
|
1.000 |
0.160 |
X |
18584354 |
splice donor 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 |
|
|
rs1555950465
|
1.000 |
0.160 |
X |
18588011 |
frameshift variant |
-/GCGA
|
delins
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555950468
|
1.000 |
0.160 |
X |
18588015 |
missense 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 |
|
|
rs1555950494
|
1.000 |
0.160 |
X |
18588123 |
frameshift variant |
C/-
|
delins
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|