rs797046035
|
1.000 |
0.200 |
18 |
55228275 |
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 |
|
|
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 |
|
|
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 |
|
|
rs797046034
|
1.000 |
0.200 |
18 |
55228855 |
missense variant |
T/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 |
|
|
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 |
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 |
rs587784462
|
1.000 |
0.200 |
18 |
55228886 |
missense variant |
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 |
|
|
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 |
|
|
rs587784460
|
1.000 |
0.200 |
18 |
55228985 |
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 |
|
0 |
|
|
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 |
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 |
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 |
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
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 |
|
|
rs1568331766
|
1.000 |
0.200 |
18 |
55232631 |
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 |
|
|
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 |
|
|
rs587784459
|
1.000 |
0.200 |
18 |
55232660 |
stop gained |
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 |
|
0 |
|
|