rs104894060
|
0.882 |
0.120 |
8 |
1780316 |
missense variant |
C/T
|
snv
|
3.2E-05
|
7.0E-06
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2004 |
2016 |
rs746645358
|
1.000 |
0.120 |
8 |
1780415 |
missense variant |
G/A
|
snv
|
2.0E-05
|
7.0E-06
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
8 |
2004 |
2016 |
rs137852883
|
1.000 |
0.120 |
8 |
1771142 |
missense variant |
G/A;C;T
|
snv
|
4.0E-06;
2.4E-05
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2004 |
2016 |
rs139003032
|
1.000 |
0.120 |
8 |
1780512 |
missense variant |
A/G;T
|
snv
|
2.0E-05;
3.3E-04
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2004 |
2016 |
rs28940569
|
1.000 |
0.120 |
8 |
1780495 |
missense variant |
G/C
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2004 |
2016 |
rs386834124
|
0.925 |
0.120 |
8 |
1771263 |
missense variant |
G/A
|
snv
|
2.8E-05
|
1.4E-05
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2004 |
2016 |
rs386834125
|
1.000 |
0.120 |
8 |
1771281 |
missense variant |
A/G
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2004 |
2016 |
rs386834126
|
1.000 |
0.120 |
8 |
1771374 |
missense variant |
T/G
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2004 |
2016 |
rs386834127
|
1.000 |
0.120 |
8 |
1771469 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2004 |
2016 |
rs386834130
|
1.000 |
0.120 |
8 |
1771527 |
missense variant |
A/G
|
snv
|
8.0E-06
|
7.0E-06
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2004 |
2016 |
rs386834133
|
1.000 |
0.120 |
8 |
1780287 |
missense variant |
A/G
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
2004 |
2016 |
rs104894064
|
0.882 |
0.120 |
8 |
1771124 |
missense variant |
C/G;T
|
snv
|
1.0E-04;
2.4E-05
|
|
Northern epilepsy syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
2 |
1999 |
2012 |
rs386834129
|
1.000 |
0.120 |
8 |
1771100 |
missense variant |
C/A;G;T
|
snv
|
2.0E-05;
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2004 |
2016 |
rs386834134
|
1.000 |
0.120 |
8 |
1780317 |
missense variant |
G/A;T
|
snv
|
8.0E-06;
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2004 |
2016 |
rs386834136
|
1.000 |
0.120 |
8 |
1780367 |
missense variant |
G/A
|
snv
|
4.4E-05
|
3.5E-05
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2004 |
2016 |
rs781166361
|
1.000 |
0.120 |
8 |
1780326 |
missense variant |
T/G
|
snv
|
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2004 |
2016 |
rs104894060
|
0.882 |
0.120 |
8 |
1780316 |
missense variant |
C/T
|
snv
|
3.2E-05
|
7.0E-06
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2004 |
2014 |
rs1366421988
|
1.000 |
|
8 |
1771146 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
3 |
2015 |
2017 |
rs1366421988
|
1.000 |
|
8 |
1771146 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2015 |
2017 |
rs386834124
|
0.925 |
0.120 |
8 |
1771263 |
missense variant |
G/A
|
snv
|
2.8E-05
|
1.4E-05
|
Movement Disorders
|
Nervous System Diseases
|
0.700 |
1.000 |
3 |
2015 |
2017 |
rs386834124
|
0.925 |
0.120 |
8 |
1771263 |
missense variant |
G/A
|
snv
|
2.8E-05
|
1.4E-05
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2015 |
2017 |
rs386834124
|
0.925 |
0.120 |
8 |
1771263 |
missense variant |
G/A
|
snv
|
2.8E-05
|
1.4E-05
|
Dysmorphic features
|
|
0.700 |
1.000 |
3 |
2015 |
2017 |
rs386834132
|
1.000 |
0.120 |
8 |
1780265 |
frameshift variant |
CT/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 8
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2000 |
2012 |
rs761621368
|
1.000 |
|
8 |
1780408 |
frameshift variant |
C/-
|
delins
|
4.0E-06
|
3.5E-05
|
Dysmorphic features
|
|
0.700 |
1.000 |
3 |
2015 |
2017 |
rs761621368
|
1.000 |
|
8 |
1780408 |
frameshift variant |
C/-
|
delins
|
4.0E-06
|
3.5E-05
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2015 |
2017 |