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 |
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 |
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 |
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 |
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 |
|
|
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 |
|
|
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 |
|
|
rs1555710726
|
1.000 |
0.200 |
18 |
55229000 |
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 |
|
|
rs1555717982
|
1.000 |
0.200 |
18 |
55232601 |
frameshift variant |
A/-
|
del
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555718063
|
1.000 |
0.200 |
18 |
55232606 |
stop gained |
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 |
|
0 |
|
|
rs1555718354
|
1.000 |
0.200 |
18 |
55232645 |
stop gained |
-/GACTACTG
|
delins
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555718426
|
1.000 |
0.200 |
18 |
55232654 |
frameshift variant |
G/-
|
del
|
|
|
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 |
|
|
rs1555722023
|
1.000 |
0.200 |
18 |
55234565 |
missense variant |
G/C
|
snv
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555764839
|
1.000 |
0.200 |
18 |
55254678 |
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 |
|
0 |
|
|