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 |
|
|
rs1057518918
|
0.882 |
0.160 |
6 |
157184329 |
frameshift variant |
C/-
|
delins
|
|
|
Global developmental delay
|
|
0.700 |
|
0 |
|
|
rs1057518918
|
0.882 |
0.160 |
6 |
157184329 |
frameshift variant |
C/-
|
delins
|
|
|
Delayed speech and language development
|
Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1057518918
|
0.882 |
0.160 |
6 |
157184329 |
frameshift variant |
C/-
|
delins
|
|
|
Bilateral Cryptorchidism
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
0.700 |
|
0 |
|
|
rs1057518918
|
0.882 |
0.160 |
6 |
157184329 |
frameshift variant |
C/-
|
delins
|
|
|
Hypertrichosis
|
Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1057518918
|
0.882 |
0.160 |
6 |
157184329 |
frameshift variant |
C/-
|
delins
|
|
|
Poor school performance
|
|
0.700 |
|
0 |
|
|
rs1057518918
|
0.882 |
0.160 |
6 |
157184329 |
frameshift variant |
C/-
|
delins
|
|
|
Speech Disorders
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057518951
|
0.827 |
0.160 |
6 |
156829296 |
stop gained |
C/T
|
snv
|
|
|
Neonatal Hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057518951
|
0.827 |
0.160 |
6 |
156829296 |
stop gained |
C/T
|
snv
|
|
|
Nail dysplasia
|
Pathological Conditions, Signs and Symptoms
|
0.700 |
|
0 |
|
|
rs1057518951
|
0.827 |
0.160 |
6 |
156829296 |
stop gained |
C/T
|
snv
|
|
|
Global developmental delay
|
|
0.700 |
|
0 |
|
|
rs1057518951
|
0.827 |
0.160 |
6 |
156829296 |
stop gained |
C/T
|
snv
|
|
|
Agenesis of corpus callosum
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057518951
|
0.827 |
0.160 |
6 |
156829296 |
stop gained |
C/T
|
snv
|
|
|
Hypertrichosis
|
Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs1057518984
|
1.000 |
0.280 |
6 |
157203997 |
splice donor variant |
G/A
|
snv
|
|
|
Coffin-Siris 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 |
|
|
rs1057519002
|
1.000 |
|
6 |
157207497 |
frameshift variant |
T/-
|
delins
|
|
|
Mental impairment
|
|
0.700 |
|
0 |
|
|
rs1057519009
|
1.000 |
0.280 |
6 |
157181118 |
frameshift variant |
-/AA
|
delins
|
|
|
Coffin-Siris 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 |
|
|
rs1060499668
|
1.000 |
0.280 |
6 |
156829419 |
stop gained |
C/T
|
snv
|
|
|
Nicolaides Baraitser syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; 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 |
|
|