rs397514670
|
1.000 |
0.160 |
6 |
33440737 |
missense variant |
C/T
|
snv
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
6 |
2009 |
2016 |
rs1554121189
|
1.000 |
0.160 |
6 |
33437760 |
frameshift variant |
-/TGGATGAC
|
delins
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2013 |
2013 |
rs397514741
|
1.000 |
0.160 |
6 |
33432724 |
stop gained |
C/T
|
snv
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2013 |
2016 |
rs869312674
|
0.925 |
0.200 |
6 |
33446569 |
splice region variant |
G/A;C
|
snv
|
4.0E-06
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2014 |
2017 |
rs869312955
|
1.000 |
0.160 |
6 |
33446710 |
stop gained |
C/T
|
snv
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2015 |
2016 |
rs1131691979
|
1.000 |
0.160 |
6 |
33432198 |
frameshift variant |
A/-
|
del
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs397515320
|
1.000 |
0.160 |
6 |
33442990 |
frameshift variant |
T/-
|
del
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs797045012
|
1.000 |
0.160 |
6 |
33432683 |
splice acceptor variant |
A/C;G
|
snv
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1057518352
|
1.000 |
0.160 |
6 |
33432787 |
stop gained |
C/T
|
snv
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1057519400
|
1.000 |
0.160 |
6 |
33440958 |
frameshift variant |
TT/-
|
delins
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1057519405
|
1.000 |
0.160 |
6 |
33440735 |
frameshift variant |
C/-
|
delins
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1057519546
|
1.000 |
0.160 |
6 |
33432806 |
missense variant |
G/A
|
snv
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1060503378
|
1.000 |
0.160 |
6 |
33438072 |
frameshift variant |
AG/-
|
del
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1060503383
|
0.882 |
0.200 |
6 |
33441318 |
stop gained |
C/T
|
snv
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1060503384
|
1.000 |
0.160 |
6 |
33441612 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1060503386
|
0.925 |
0.200 |
6 |
33440913 |
stop gained |
C/T
|
snv
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1064792984
|
1.000 |
0.160 |
6 |
33441360 |
splice donor variant |
CAGCTCAGCAAGGTCAGCAGATCCCC/-
|
delins
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1064795331
|
1.000 |
0.160 |
6 |
33440769 |
missense variant |
C/T
|
snv
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1135401805
|
1.000 |
0.160 |
6 |
33443742 |
stop gained |
C/T
|
snv
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs121918315
|
1.000 |
0.160 |
6 |
33432709 |
stop gained |
A/T
|
snv
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs121918316
|
1.000 |
0.160 |
6 |
33440787 |
stop gained |
C/G;T
|
snv
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1480178032
|
1.000 |
0.160 |
6 |
33438874 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1485749468
|
1.000 |
0.160 |
6 |
33441184 |
missense variant |
A/C;G
|
snv
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1554119814
|
1.000 |
0.160 |
6 |
33425803 |
frameshift variant |
C/-
|
delins
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1554120498
|
1.000 |
0.160 |
6 |
33432246 |
frameshift variant |
-/C
|
delins
|
|
|
Mental Retardation, Autosomal Dominant 5
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|