rs1556836399
|
1.000 |
|
X |
53195978 |
stop gained |
G/A
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
12 |
2005 |
2016 |
rs1556836399
|
1.000 |
|
X |
53195978 |
stop gained |
G/A
|
snv
|
|
|
Overgrowth
|
|
0.700 |
1.000 |
12 |
2005 |
2016 |
rs1556837420
|
1.000 |
|
X |
53196897 |
stop gained |
G/A
|
snv
|
|
|
Movement Disorders
|
Nervous System Diseases
|
0.700 |
1.000 |
12 |
2005 |
2016 |
rs1556837420
|
1.000 |
|
X |
53196897 |
stop gained |
G/A
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
12 |
2005 |
2016 |
rs1057517955
|
0.925 |
0.080 |
X |
53199128 |
missense variant |
C/T
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
12 |
2005 |
2016 |
rs199422235
|
0.925 |
0.080 |
X |
53211867 |
missense variant |
C/G
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
12 |
2005 |
2016 |
rs1569285562
|
1.000 |
0.080 |
X |
53224889 |
start lost |
T/C
|
snv
|
|
|
Spastic Paraplegia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2012 |
2015 |
rs281860639
|
1.000 |
0.080 |
X |
53199048 |
stop gained |
G/T
|
snv
|
|
|
Intellectual Disability
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.010 |
1.000 |
1 |
2011 |
2011 |
rs1057517955
|
0.925 |
0.080 |
X |
53199128 |
missense variant |
C/T
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057519393
|
1.000 |
0.080 |
X |
53197768 |
splice donor variant |
-/A
|
delins
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057519393
|
1.000 |
0.080 |
X |
53197768 |
splice donor variant |
-/A
|
delins
|
|
|
Poor school performance
|
|
0.700 |
|
0 |
|
|
rs1060499661
|
1.000 |
0.080 |
X |
53216085 |
frameshift variant |
AG/-
|
delins
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1135401800
|
1.000 |
0.080 |
X |
53198524 |
stop gained |
G/A
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556842184
|
1.000 |
0.080 |
X |
53201925 |
missense variant |
G/A
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556852362
|
1.000 |
0.080 |
X |
53217205 |
stop gained |
G/A
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569258293
|
1.000 |
0.080 |
X |
53194604 |
frameshift variant |
CCAC/-
|
delins
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569278313
|
1.000 |
0.080 |
X |
53215951 |
frameshift variant |
G/-
|
delins
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569279367
|
1.000 |
0.080 |
X |
53217207 |
missense variant |
C/T
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569285361
|
1.000 |
0.080 |
X |
53224790 |
frameshift variant |
T/-
|
delins
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs199422234
|
1.000 |
0.080 |
X |
53199029 |
missense variant |
G/A
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs199422235
|
0.925 |
0.080 |
X |
53211867 |
missense variant |
C/G
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs199422236
|
1.000 |
0.080 |
X |
53199140 |
stop gained |
G/A
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs199422237
|
1.000 |
0.080 |
X |
53211545 |
missense variant |
G/A;C
|
snv
|
1.6E-05
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs199422238
|
1.000 |
0.080 |
X |
53198836 |
missense variant |
G/A
|
snv
|
5.4E-06
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs199422239
|
1.000 |
0.080 |
X |
53218398 |
missense variant |
C/T
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|