rs1555985372
|
1.000 |
|
X |
100407591 |
frameshift variant |
-/C
|
delins
|
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
16 |
2008 |
2017 |
rs1555985372
|
1.000 |
|
X |
100407591 |
frameshift variant |
-/C
|
delins
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
16 |
2008 |
2017 |
rs191333060
|
1.000 |
0.040 |
X |
100296405 |
missense variant |
G/A;C
|
snv
|
1.3E-03
|
|
Epilepsy, Rolandic
|
Nervous System Diseases
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs1569315842
|
1.000 |
0.080 |
X |
100408107 |
frameshift variant |
-/G
|
delins
|
|
|
Tonic - clonic seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs796052839
|
0.882 |
0.200 |
X |
100407579 |
missense variant |
T/C;G
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
17 |
1990 |
2017 |
rs587784299
|
1.000 |
0.200 |
X |
100407903 |
missense variant |
T/A;C
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
15 |
2008 |
2017 |
rs1555985448
|
1.000 |
0.200 |
X |
100407813 |
missense variant |
G/T
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
12 |
2008 |
2016 |
rs1555985475
|
1.000 |
0.200 |
X |
100407897 |
missense variant |
T/C
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
12 |
2008 |
2016 |
rs201989363
|
1.000 |
0.200 |
X |
100406898 |
missense variant |
G/A;C;T
|
snv
|
4.4E-05
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
12 |
2008 |
2016 |
rs267606933
|
1.000 |
0.200 |
X |
100406927 |
missense variant |
G/A;C
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
12 |
2008 |
2016 |
rs753757730
|
1.000 |
0.200 |
X |
100408027 |
missense variant |
C/G;T
|
snv
|
5.6E-06;
5.6E-06
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
12 |
2008 |
2016 |
rs1131691646
|
1.000 |
0.200 |
X |
100407077 |
frameshift variant |
G/-;GG
|
delins
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
2 |
2010 |
2012 |
rs1278838206
|
0.925 |
0.200 |
X |
100296654 |
missense variant |
C/T
|
snv
|
1.1E-05
|
|
Intellectual Disability
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1278838206
|
0.925 |
0.200 |
X |
100296654 |
missense variant |
C/T
|
snv
|
1.1E-05
|
|
Mental Retardation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1278838206
|
0.925 |
0.200 |
X |
100296654 |
missense variant |
C/T
|
snv
|
1.1E-05
|
|
Epilepsy
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1555984453
|
1.000 |
0.200 |
X |
100402687 |
frameshift variant |
T/-
|
del
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs1569315231
|
1.000 |
0.200 |
X |
100407680 |
stop gained |
G/C
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs769967221
|
1.000 |
0.200 |
X |
100407415 |
stop gained |
G/A;T
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs779136255
|
1.000 |
0.200 |
X |
100403522 |
coding sequence variant |
-/CTCTTTCCCCTTAGGCTCACTTTCTCC
|
delins
|
5.8E-06
|
1.9E-05
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs796052839
|
0.882 |
0.200 |
X |
100407579 |
missense variant |
T/C;G
|
snv
|
|
|
Infantile Severe Myoclonic Epilepsy
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs796052839
|
0.882 |
0.200 |
X |
100407579 |
missense variant |
T/C;G
|
snv
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs1057521256
|
1.000 |
0.200 |
X |
100406783 |
stop gained |
G/A;C
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1060502175
|
1.000 |
0.200 |
X |
100402799 |
frameshift variant |
T/-
|
delins
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1060502176
|
1.000 |
0.200 |
X |
100407891 |
missense variant |
G/A;C
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs132630323
|
1.000 |
0.200 |
X |
100407276 |
missense variant |
A/T
|
snv
|
|
|
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION (disorder)
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
|
0 |
|
|