rs1057518663
|
1.000 |
0.280 |
16 |
89283420 |
stop gained |
G/T
|
snv
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1057519399
|
1.000 |
0.280 |
16 |
89281038 |
frameshift variant |
A/-
|
del
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1064793539
|
1.000 |
0.280 |
16 |
89283458 |
stop gained |
G/T
|
snv
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1064794330
|
1.000 |
0.280 |
16 |
89283315 |
frameshift variant |
CTTT/-
|
delins
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1135401804
|
1.000 |
0.280 |
16 |
89283895 |
stop gained |
C/A
|
snv
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1135401815
|
1.000 |
0.280 |
16 |
89279755 |
frameshift variant |
-/T
|
ins
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1221781038
|
0.925 |
0.280 |
16 |
89279695 |
stop gained |
G/A;T
|
snv
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1381957912
|
1.000 |
0.280 |
16 |
89279872 |
stop gained |
C/A;T
|
snv
|
5.5E-06
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555521799
|
1.000 |
0.280 |
16 |
89270872 |
missense variant |
G/T
|
snv
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555525115
|
0.851 |
0.360 |
16 |
89279567 |
frameshift variant |
GGCTTCGG/-
|
delins
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555525977
|
1.000 |
0.280 |
16 |
89280344 |
stop gained |
GA/TT
|
mnv
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555527341
|
1.000 |
0.280 |
16 |
89281489 |
frameshift variant |
T/-
|
del
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555527929
|
1.000 |
0.280 |
16 |
89282254 |
stop gained |
T/A
|
snv
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555528356
|
0.790 |
0.360 |
16 |
89282836 |
stop gained |
G/A
|
snv
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555528400
|
1.000 |
0.280 |
16 |
89282909 |
frameshift variant |
TT/-
|
delins
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555529181
|
1.000 |
0.280 |
16 |
89284135 |
frameshift variant |
GAGT/-
|
delins
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555529551
|
1.000 |
0.280 |
16 |
89284863 |
stop gained |
G/C
|
snv
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555529645
|
0.925 |
0.280 |
16 |
89285079 |
frameshift variant |
CT/-
|
delins
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555529979
|
1.000 |
0.280 |
16 |
89285565 |
frameshift variant |
C/-
|
delins
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1567566026
|
1.000 |
0.280 |
16 |
89281477 |
frameshift variant |
G/-
|
delins
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1567571990
|
1.000 |
0.280 |
16 |
89282769 |
frameshift variant |
CTTT/-
|
delins
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1567572265
|
1.000 |
0.280 |
16 |
89282833 |
frameshift variant |
CT/-
|
delins
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1567574291
|
1.000 |
0.280 |
16 |
89283343 |
frameshift variant |
AT/-
|
delins
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1567579092
|
1.000 |
0.280 |
16 |
89284494 |
frameshift variant |
TT/-
|
del
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1567579525
|
1.000 |
0.280 |
16 |
89284594 |
stop gained |
G/A
|
snv
|
|
|
KBG syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|