rs1556863492
|
1.000 |
0.080 |
X |
53251018 |
frameshift variant |
TAGAGGGG/-
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556865060
|
1.000 |
0.080 |
X |
53255936 |
frameshift variant |
A/-
|
del
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556880284
|
1.000 |
0.080 |
X |
53320973 |
frameshift variant |
GCTGGCCCTCCAGCTCCTCGATGCGCCGCCGCTGGGTTTCCAGCAGCTGCTGCTGGCTCTCGATGATGTTGTTCAGCTCCAGCAGGTACTCCACGGC/AT
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569290954
|
1.000 |
0.080 |
X |
53234267 |
frameshift variant |
G/-;GG
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs782460038
|
1.000 |
0.080 |
X |
53255945 |
frameshift variant |
G/-
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs782660318
|
1.000 |
0.080 |
X |
53255951 |
frameshift variant |
C/-
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1569306667
|
1.000 |
0.080 |
X |
53256062 |
splice acceptor variant |
C/T
|
snv
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs797045140
|
0.827 |
0.200 |
X |
53238308 |
splice region variant |
TG/-
|
delins
|
|
|
Learning Disabilities
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs797045140
|
0.827 |
0.200 |
X |
53238308 |
splice region variant |
TG/-
|
delins
|
|
|
Delayed speech and language development
|
Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs797045140
|
0.827 |
0.200 |
X |
53238308 |
splice region variant |
TG/-
|
delins
|
|
|
Mild Mental Retardation
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs797045140
|
0.827 |
0.200 |
X |
53238308 |
splice region variant |
TG/-
|
delins
|
|
|
Moderate intellectual disability
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs797045140
|
0.827 |
0.200 |
X |
53238308 |
splice region variant |
TG/-
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs797045140
|
0.827 |
0.200 |
X |
53238308 |
splice region variant |
TG/-
|
delins
|
|
|
Severe intellectual disability
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2016 |
2016 |