rs387907144
|
0.716 |
0.600 |
6 |
157181056 |
stop gained |
C/A;T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
2 |
2012 |
2015 |
rs1028186690
|
1.000 |
0.280 |
6 |
157206971 |
stop gained |
C/G;T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1057518648
|
1.000 |
0.280 |
6 |
156777946 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1057518691
|
1.000 |
0.280 |
6 |
157189781 |
splice donor variant |
G/C
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1131692263
|
1.000 |
0.280 |
6 |
157174077 |
frameshift variant |
CAAAG/-
|
delins
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1404726383
|
1.000 |
0.280 |
6 |
157181180 |
splice donor variant |
T/C;G
|
snv
|
|
1.4E-05
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1451259945
|
1.000 |
0.280 |
6 |
157206623 |
stop gained |
G/A;T
|
snv
|
4.0E-06
|
4.2E-05
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1554231836
|
1.000 |
0.280 |
6 |
157184315 |
stop gained |
C/T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1554231845
|
1.000 |
0.280 |
6 |
157184333 |
frameshift variant |
T/-
|
delins
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1554232959
|
1.000 |
0.280 |
6 |
157189721 |
frameshift variant |
-/A
|
delins
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1554234341
|
1.000 |
0.280 |
6 |
157196200 |
stop gained |
C/T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1554235834
|
1.000 |
0.280 |
6 |
157201130 |
stop gained |
G/A
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1554236040
|
0.882 |
0.320 |
6 |
157201464 |
stop gained |
C/T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1554237269
|
1.000 |
0.280 |
6 |
157206531 |
frameshift variant |
TGTT/-
|
delins
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1554237658
|
0.925 |
0.280 |
6 |
157206917 |
stop gained |
C/T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1554237992
|
1.000 |
0.280 |
6 |
157207393 |
stop gained |
-/CCCTCTGTAAACTCAGTATCCAGGACAA
|
delins
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1554238072
|
1.000 |
0.280 |
6 |
157207523 |
stop gained |
C/T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1554248236
|
1.000 |
0.280 |
6 |
156779412 |
stop gained |
C/T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1554256703
|
0.925 |
0.280 |
6 |
156829302 |
stop gained |
C/T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1554265271
|
1.000 |
0.280 |
6 |
156901427 |
stop gained |
C/T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1554265275
|
1.000 |
0.280 |
6 |
156901439 |
stop gained |
-/A
|
delins
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1554265319
|
1.000 |
0.280 |
6 |
156901497 |
frameshift variant |
-/G
|
delins
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1554270809
|
1.000 |
0.280 |
6 |
156935499 |
stop gained |
C/T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1554294593
|
1.000 |
0.280 |
6 |
157084701 |
stop gained |
G/T
|
snv
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|
rs1554294698
|
1.000 |
0.280 |
6 |
157084879 |
frameshift variant |
-/C
|
delins
|
|
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
|
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 |
|
|