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 |
|
|
rs1555775233
|
1.000 |
0.200 |
18 |
55259950 |
frameshift variant |
-/GA
|
delins
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
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 |
|
|
rs1555796785
|
1.000 |
0.200 |
18 |
55275649 |
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 |
|
|
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 |
|
|
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 |
|
|
rs1568471940
|
1.000 |
0.200 |
18 |
55254555 |
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 |
|
|
rs1568509890
|
1.000 |
0.200 |
18 |
55259984 |
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 |
|
|
rs1568523662
|
1.000 |
0.200 |
18 |
55261515 |
frameshift variant |
CCCGC/-
|
delins
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1568620706
|
1.000 |
0.200 |
18 |
55275665 |
frameshift variant |
AT/-
|
delins
|
|
|
PITT-HOPKINS SYNDROME
|
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|