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 |
|
|
rs1569291627
|
1.000 |
0.080 |
X |
53234811 |
frameshift variant |
G/-
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2010 |
2017 |
rs1569305431
|
1.000 |
0.040 |
X |
53254702 |
frameshift variant |
G/-
|
delins
|
|
|
Autism Spectrum Disorders
|
Mental Disorders
|
0.700 |
1.000 |
1 |
2019 |
2019 |
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 |
rs886041481
|
1.000 |
0.080 |
X |
53255995 |
frameshift variant |
G/-
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs1064795512
|
1.000 |
0.080 |
X |
53234646 |
frameshift variant |
-/C
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556858912
|
1.000 |
0.080 |
X |
53234247 |
frameshift variant |
-/GGCCT
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556863340
|
1.000 |
0.080 |
X |
53250900 |
frameshift variant |
G/-
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556863398
|
1.000 |
0.080 |
X |
53250926 |
frameshift variant |
-/G
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1556863435
|
1.000 |
0.080 |
X |
53250946 |
frameshift variant |
GCCGG/-
|
delins
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
|
|
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 |
|
|
rs1556861311
|
1.000 |
0.080 |
X |
53243331 |
splice donor variant |
C/T
|
snv
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2010 |
2016 |
rs267607186
|
1.000 |
0.080 |
X |
53247131 |
missense variant |
G/A
|
snv
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2010 |
2015 |
rs267607187
|
1.000 |
0.080 |
X |
53248778 |
missense variant |
T/G
|
snv
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2010 |
2015 |
rs267607188
|
1.000 |
0.080 |
X |
53254856 |
missense variant |
G/A
|
snv
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2010 |
2015 |
rs267607189
|
1.000 |
0.080 |
X |
53250303 |
missense variant |
C/T
|
snv
|
|
|
Mental Retardation, X-Linked 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
2 |
2010 |
2015 |