rs1057518074
|
1.000 |
0.240 |
11 |
118478096 |
missense variant |
G/A
|
snv
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2015 |
2017 |
rs797045051
|
1.000 |
0.240 |
11 |
118495830 |
missense variant |
C/A
|
snv
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057519403
|
1.000 |
0.240 |
11 |
118499835 |
missense variant |
G/A
|
snv
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1057519407
|
1.000 |
0.240 |
11 |
118490250 |
splice donor variant |
G/A
|
snv
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1057519408
|
1.000 |
0.240 |
11 |
118499340 |
frameshift variant |
TTGT/-
|
delins
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1131691433
|
1.000 |
0.240 |
11 |
118488648 |
missense variant |
A/G
|
snv
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1131691503
|
1.000 |
0.240 |
11 |
118478105 |
missense variant |
G/A;C
|
snv
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1131692268
|
0.925 |
0.240 |
11 |
118504037 |
frameshift variant |
A/-
|
delins
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1135401764
|
1.000 |
0.240 |
11 |
118476983 |
splice donor variant |
G/A
|
snv
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555035550
|
1.000 |
0.240 |
11 |
118471761 |
frameshift variant |
-/T
|
ins
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555035779
|
1.000 |
0.240 |
11 |
118472197 |
frameshift variant |
A/-
|
del
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555036801
|
1.000 |
0.240 |
11 |
118474055 |
stop gained |
A/T
|
snv
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555038029
|
0.776 |
0.400 |
11 |
118477973 |
stop gained |
C/A
|
snv
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555038111
|
0.701 |
0.480 |
11 |
118478153 |
stop gained |
T/G
|
snv
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555038125
|
1.000 |
0.240 |
11 |
118478198 |
missense variant |
G/A
|
snv
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555043939
|
0.851 |
0.240 |
11 |
118496323 |
frameshift variant |
-/G
|
delins
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555045177
|
1.000 |
0.240 |
11 |
118499919 |
splice region variant |
T/A;C
|
snv
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555046568
|
1.000 |
0.240 |
11 |
118503330 |
stop gained |
C/T
|
snv
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555047266
|
1.000 |
0.240 |
11 |
118504435 |
missense variant |
T/C
|
snv
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1555049702
|
1.000 |
0.240 |
11 |
118510119 |
splice donor variant |
G/A
|
snv
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1565286640
|
1.000 |
0.240 |
11 |
118481820 |
frameshift variant |
CA/-
|
del
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1565304395
|
1.000 |
0.240 |
11 |
118504159 |
frameshift variant |
-/A
|
delins
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1565310297
|
1.000 |
0.240 |
11 |
118510077 |
frameshift variant |
C/-
|
delins
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs387907275
|
1.000 |
0.240 |
11 |
118503036 |
stop gained |
C/T
|
snv
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs398122878
|
1.000 |
0.240 |
11 |
118504691 |
frameshift variant |
GTCT/-
|
delins
|
|
|
Growth Deficiency and Mental Retardation with Facial Dysmorphism
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|