rs104894779
|
0.925 |
0.120 |
X |
111410215 |
missense variant |
C/T
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1998 |
2016 |
rs104894780
|
0.882 |
0.120 |
X |
111401121 |
missense variant |
G/A
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1998 |
2016 |
rs104894781
|
0.925 |
0.120 |
X |
111401322 |
missense variant |
A/G
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1998 |
2016 |
rs104894782
|
0.882 |
0.120 |
X |
111401087 |
missense variant |
G/C;T
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1998 |
2016 |
rs104894783
|
0.925 |
0.120 |
X |
111410260 |
missense variant |
T/G
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1998 |
2016 |
rs122457137
|
0.882 |
0.120 |
X |
111410223 |
missense variant |
C/A;T
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
15 |
1998 |
2016 |
rs104894784
|
0.925 |
0.080 |
X |
111410166 |
missense variant |
C/A;T
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
8 |
1998 |
2002 |
rs104894785
|
0.925 |
0.080 |
X |
111410134 |
stop gained |
G/A;C
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
8 |
1998 |
2002 |
rs104894786
|
0.925 |
0.120 |
X |
111410188 |
missense variant |
C/A
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1998 |
2016 |
rs56030372
|
0.882 |
0.120 |
X |
111401108 |
missense variant |
C/A;T
|
snv
|
|
9.5E-06
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1998 |
2016 |
rs398124557
|
1.000 |
0.080 |
X |
111333074 |
missense variant |
T/C
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
15 |
1998 |
2016 |
rs587783523
|
0.925 |
0.080 |
X |
111410249 |
missense variant |
C/A
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
8 |
1998 |
2002 |
rs587783537
|
0.925 |
0.080 |
X |
111410109 |
missense variant |
A/C
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
8 |
1998 |
2002 |
rs587783558
|
0.925 |
0.080 |
X |
111401163 |
missense variant |
G/A;C
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
8 |
1998 |
2002 |
rs587783559
|
0.925 |
0.080 |
X |
111401162 |
missense variant |
C/A
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
8 |
1998 |
2002 |
rs587783562
|
0.882 |
0.080 |
X |
111401139 |
missense variant |
G/A
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
8 |
1998 |
2002 |
rs587783566
|
0.925 |
0.080 |
X |
111401123 |
missense variant |
G/C
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
8 |
1998 |
2002 |
rs587783570
|
0.925 |
0.080 |
X |
111401088 |
missense variant |
T/C
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
8 |
1998 |
2002 |
rs587783574
|
0.925 |
0.080 |
X |
111401054 |
missense variant |
A/G
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
8 |
1998 |
2002 |
rs587783585
|
0.925 |
0.080 |
X |
111333108 |
missense variant |
C/A
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
8 |
1998 |
2002 |
rs587783521
|
0.925 |
0.080 |
X |
111410271 |
missense variant |
A/G
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1998 |
2016 |
rs1556405129
|
0.925 |
0.080 |
X |
111410209 |
missense variant |
A/T
|
snv
|
|
|
Lissencephaly, X-Linked, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1556405129
|
0.925 |
0.080 |
X |
111410209 |
missense variant |
A/T
|
snv
|
|
|
Malformations of Cortical Development, Group II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs104894779
|
0.925 |
0.120 |
X |
111410215 |
missense variant |
C/T
|
snv
|
|
|
Lissencephaly and agenesis of corpus callosum
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104894780
|
0.882 |
0.120 |
X |
111401121 |
missense variant |
G/A
|
snv
|
|
|
Lissencephaly and agenesis of corpus callosum
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|