rs1057518848
|
0.827 |
0.240 |
18 |
55229003 |
frameshift variant |
-/ATTG
|
delins
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1568303086
|
0.882 |
0.320 |
18 |
55228877 |
missense variant |
C/A
|
snv
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2011 |
2014 |
rs1555789019
|
0.882 |
0.320 |
18 |
55269829 |
splice donor variant |
ACCCAT/GGGAC
|
delins
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs878853149
|
0.925 |
0.240 |
18 |
55350388 |
stop gained |
G/A
|
snv
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
3 |
2012 |
2017 |
rs1057521070
|
0.925 |
0.200 |
18 |
55228999 |
missense variant |
C/T
|
snv
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555721921
|
0.925 |
0.200 |
18 |
55234546 |
splice donor variant |
A/C;G
|
snv
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1568305976
|
0.925 |
0.280 |
18 |
55229021 |
missense variant |
G/A
|
snv
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1568622225
|
0.925 |
0.280 |
18 |
55275712 |
frameshift variant |
C/-
|
delins
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs398123561
|
0.925 |
0.240 |
18 |
55350391 |
frameshift variant |
CTTT/-
|
delins
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs121909120
|
1.000 |
0.200 |
18 |
55228988 |
missense variant |
G/A;T
|
snv
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.810 |
1.000 |
9 |
2007 |
2018 |
rs121909121
|
1.000 |
0.200 |
18 |
55228987 |
missense variant |
C/T
|
snv
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
8 |
2007 |
2014 |
rs121909123
|
1.000 |
0.200 |
18 |
55228993 |
missense variant |
C/G;T
|
snv
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
8 |
2007 |
2014 |
rs1568303352
|
1.000 |
0.200 |
18 |
55228885 |
missense variant |
G/A
|
snv
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
4 |
2009 |
2012 |
rs1057519592
|
1.000 |
0.200 |
18 |
55257324 |
frameshift variant |
-/A
|
delins
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs1555782724
|
1.000 |
0.200 |
18 |
55585279 |
splice donor variant |
C/T
|
snv
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1568490874
|
1.000 |
0.200 |
18 |
55257312 |
splice region variant |
T/C
|
snv
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs727505396
|
1.000 |
0.200 |
18 |
55234596 |
stop gained |
G/A
|
snv
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs796053418
|
1.000 |
0.200 |
18 |
55232588 |
stop gained |
G/A
|
snv
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs797045072
|
1.000 |
0.200 |
18 |
55259948 |
splice donor variant |
C/A;T
|
snv
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1131691735
|
1.000 |
0.200 |
18 |
55228850 |
stop gained |
G/A
|
snv
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1135401807
|
1.000 |
0.200 |
18 |
55228283 |
frameshift variant |
AG/-
|
delins
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs121909122
|
1.000 |
0.200 |
18 |
55254694 |
stop gained |
G/A
|
snv
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555710069
|
1.000 |
0.200 |
18 |
55228892 |
frameshift variant |
G/-
|
delins
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555710127
|
1.000 |
0.200 |
18 |
55228898 |
inframe deletion |
AGGAGCTTGGTC/-
|
delins
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555710523
|
1.000 |
0.200 |
18 |
55228966 |
missense variant |
G/A
|
snv
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|