rs121434615
|
|
1.000 |
0.080 |
X |
120539349 |
missense variant
|
G/A
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.800 |
|
0 |
|
|
rs1260356990
|
|
1.000 |
|
X |
120543779 |
missense variant
|
G/A;C
|
snv
|
|
|
Dysmorphic features
|
0.700 |
1.000 |
10 |
2000 |
2017 |
rs1556200443
|
|
1.000 |
|
X |
120538659 |
splice donor variant
|
C/-
|
delins
|
|
|
Dysmorphic features
|
0.700 |
1.000 |
10 |
2000 |
2017 |
rs1556200443
|
|
1.000 |
|
X |
120538659 |
splice donor variant
|
C/-
|
delins
|
|
|
Muscle hypotonia
|
0.700 |
1.000 |
10 |
2000 |
2017 |
rs1556213001
|
|
|
|
X |
120544122 |
stop gained
|
C/A
|
snv
|
|
|
Movement Disorders
|
0.700 |
1.000 |
10 |
2000 |
2017 |
rs1556220623
|
|
1.000 |
|
X |
120547191 |
stop gained
|
G/A
|
snv
|
|
|
Dysmorphic features
|
0.700 |
1.000 |
10 |
2000 |
2017 |
rs1556220623
|
|
1.000 |
|
X |
120547191 |
stop gained
|
G/A
|
snv
|
|
|
Overgrowth
|
0.700 |
1.000 |
10 |
2000 |
2017 |
rs1057519396
|
|
1.000 |
0.080 |
X |
120539326 |
frameshift variant
|
GT/-
|
delins
|
|
|
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.700 |
|
0 |
|
|
rs1085307760
|
|
1.000 |
0.080 |
X |
120544607 |
frameshift variant
|
AATAT/-
|
delins
|
|
|
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.700 |
|
0 |
|
|
rs121434616
|
|
0.925 |
0.080 |
X |
120544179 |
stop gained
|
G/A
|
snv
|
|
|
Short stature
|
0.700 |
|
0 |
|
|
rs121434616
|
|
0.925 |
0.080 |
X |
120544179 |
stop gained
|
G/A
|
snv
|
|
|
Dysmorphic facies
|
0.700 |
|
0 |
|
|
rs121434616
|
|
0.925 |
0.080 |
X |
120544179 |
stop gained
|
G/A
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.700 |
|
0 |
|
|
rs121434616
|
|
0.925 |
0.080 |
X |
120544179 |
stop gained
|
G/A
|
snv
|
|
|
Global developmental delay
|
0.700 |
|
0 |
|
|
rs121434616
|
|
0.925 |
0.080 |
X |
120544179 |
stop gained
|
G/A
|
snv
|
|
|
Seizures
|
0.700 |
|
0 |
|
|
rs121434616
|
|
0.925 |
0.080 |
X |
120544179 |
stop gained
|
G/A
|
snv
|
|
|
Poor school performance
|
0.700 |
|
0 |
|
|
rs1556173896
|
|
1.000 |
0.120 |
X |
120526816 |
missense variant
|
C/T
|
snv
|
|
|
DANDY-WALKER MALFORMATION WITH MENTAL RETARDATION, BASAL GANGLIA DISEASE, AND SEIZURES
|
0.700 |
|
0 |
|
|
rs1556206910
|
|
1.000 |
0.080 |
X |
120541640 |
frameshift variant
|
TC/-
|
delins
|
|
|
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.700 |
|
0 |
|
|
rs1569389364
|
|
1.000 |
0.080 |
X |
120539261 |
splice donor variant
|
TTAC/-
|
delins
|
|
|
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.700 |
|
0 |
|
|
rs786200913
|
|
1.000 |
0.080 |
X |
120545519 |
splice acceptor variant
|
T/C
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.700 |
|
0 |
|
|
rs797044862
|
|
1.000 |
0.080 |
X |
120538659 |
splice donor variant
|
C/A;T
|
snv
|
|
|
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.700 |
|
0 |
|
|
rs869320682
|
|
1.000 |
0.080 |
X |
120560544 |
missense variant
|
G/A
|
snv
|
|
9.5E-06
|
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT
|
0.700 |
|
0 |
|
|
rs878853152
|
|
1.000 |
0.200 |
X |
120547154 |
frameshift variant
|
TG/-
|
delins
|
|
|
Mental Retardation
|
0.700 |
|
0 |
|
|