rs62653623
|
0.851 |
0.240 |
X |
18575383 |
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
|
0.710 |
1.000 |
1 |
2019 |
2019 |
rs267606715
|
0.925 |
0.160 |
X |
18584332 |
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 |
1.000 |
9 |
2005 |
2018 |
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 |
rs267608511
|
0.925 |
0.160 |
X |
18588058 |
missense variant |
T/C
|
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 |
3 |
2008 |
2012 |
rs1569215629
|
1.000 |
0.160 |
X |
18588037 |
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 |
1.000 |
2 |
2013 |
2016 |
rs1555949011
|
1.000 |
0.160 |
X |
18575405 |
frameshift variant |
TC/-
|
delins
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1555955290
|
1.000 |
0.160 |
X |
18628701 |
frameshift variant |
GA/-
|
delins
|
|
|
Cyclin-dependent kinase-like 5 deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1569213054
|
1.000 |
0.160 |
X |
18575491 |
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 |
1.000 |
1 |
2013 |
2013 |
rs1569215594
|
1.000 |
0.160 |
X |
18587982 |
missense variant |
T/G
|
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 |
1 |
2011 |
2011 |
rs267608395
|
0.925 |
0.200 |
X |
18604599 |
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 |
1.000 |
1 |
2009 |
2009 |
rs62643614
|
0.925 |
0.200 |
X |
18619932 |
frameshift 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 |
1.000 |
1 |
2005 |
2005 |
rs863225289
|
1.000 |
0.160 |
X |
18628590 |
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 |
1.000 |
1 |
2006 |
2006 |
rs863225290
|
1.000 |
0.160 |
X |
18579918 |
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 |
1.000 |
1 |
2013 |
2013 |
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|