rs766773277
|
1.000 |
0.120 |
X |
74524723 |
stop gained |
C/A;T
|
snv
|
1.6E-05
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs373279555
|
1.000 |
0.120 |
X |
74521007 |
missense variant |
G/A
|
snv
|
5.5E-06
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2004 |
2017 |
rs587784384
|
0.925 |
0.120 |
X |
74525834 |
missense variant |
C/T
|
snv
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
11 |
2004 |
2017 |
rs104894931
|
1.000 |
0.120 |
X |
74529355 |
missense variant |
T/C
|
snv
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
9 |
2004 |
2017 |
rs104894936
|
1.000 |
0.120 |
X |
74521008 |
missense variant |
C/A;T
|
snv
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
9 |
2004 |
2017 |
rs104894938
|
1.000 |
0.120 |
X |
74531414 |
missense variant |
T/C;G
|
snv
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
9 |
2004 |
2017 |
rs104894939
|
1.000 |
0.120 |
X |
74525802 |
missense variant |
T/G
|
snv
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
9 |
2004 |
2017 |
rs122455132
|
0.925 |
0.200 |
X |
74529232 |
missense variant |
T/C
|
snv
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
9 |
2004 |
2017 |
rs398124232
|
1.000 |
0.120 |
X |
74524430 |
missense variant |
C/T
|
snv
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2004 |
2017 |
rs794727799
|
1.000 |
0.120 |
X |
74531401 |
missense variant |
G/A
|
snv
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2004 |
2017 |
rs104894940
|
1.000 |
0.120 |
X |
74525844 |
stop gained |
C/A
|
snv
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs113994162
|
1.000 |
0.120 |
X |
74421996 |
missense variant |
C/T
|
snv
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs113994164
|
1.000 |
0.120 |
X |
74529317 |
inframe deletion |
TTC/-
|
delins
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs113994166
|
1.000 |
0.120 |
X |
74531545 |
frameshift variant |
C/-
|
delins
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1363308293
|
1.000 |
0.120 |
X |
74529432 |
missense variant |
C/T
|
snv
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555989364
|
1.000 |
0.120 |
X |
74520993 |
stop gained |
G/A
|
snv
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555989375
|
1.000 |
0.120 |
X |
74521087 |
frameshift variant |
G/-
|
delins
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555989729
|
1.000 |
0.120 |
X |
74524810 |
splice donor variant |
G/T
|
snv
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555989846
|
1.000 |
0.120 |
X |
74525894 |
splice region variant |
AGTG/-
|
delins
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs367543059
|
1.000 |
0.120 |
X |
74529295 |
missense variant |
T/C
|
snv
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs387906501
|
1.000 |
0.120 |
X |
74521020 |
inframe deletion |
TCT/-
|
delins
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587784382
|
1.000 |
0.120 |
X |
74524699 |
stop gained |
C/T
|
snv
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587784383
|
1.000 |
0.120 |
X |
74524762 |
missense variant |
G/A
|
snv
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs587784386
|
1.000 |
0.120 |
X |
74421914 |
stop gained |
C/T
|
snv
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs727504155
|
1.000 |
0.120 |
X |
74524373 |
missense variant |
G/A
|
snv
|
|
|
Allan-Herndon-Dudley syndrome (AHDS)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|