rs1057516447
|
1.000 |
0.120 |
1 |
40092080 |
stop gained |
G/T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516575
|
1.000 |
0.120 |
1 |
40074160 |
frameshift variant |
-/A
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs1057516889
|
1.000 |
0.120 |
1 |
40078632 |
frameshift variant |
-/T
|
delins
|
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517049
|
1.000 |
0.120 |
1 |
40092109 |
frameshift variant |
-/AAGT
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517112
|
1.000 |
0.120 |
1 |
40097185 |
frameshift variant |
TCCATGG/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517192
|
1.000 |
0.120 |
1 |
40092448 |
frameshift variant |
T/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517368
|
1.000 |
0.120 |
1 |
40097113 |
splice donor variant |
A/T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517401
|
1.000 |
0.120 |
1 |
40092044 |
splice donor variant |
C/T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1085307087
|
1.000 |
0.120 |
1 |
40097238 |
start lost |
T/C
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1998 |
1998 |
rs1265044710
|
1.000 |
0.120 |
1 |
40080396 |
splice donor variant |
C/A
|
snv
|
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs1349528345
|
1.000 |
0.120 |
1 |
40076863 |
frameshift variant |
-/T
|
delins
|
|
7.0E-06
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2000 |
2013 |
rs137852695
|
0.925 |
0.120 |
1 |
40091398 |
missense variant |
T/A
|
snv
|
7.0E-04
|
6.0E-04
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
9 |
1995 |
2016 |
rs137852695
|
0.925 |
0.120 |
1 |
40091398 |
missense variant |
T/A
|
snv
|
7.0E-04
|
6.0E-04
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137852695
|
0.925 |
0.120 |
1 |
40091398 |
missense variant |
T/A
|
snv
|
7.0E-04
|
6.0E-04
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137852695
|
0.925 |
0.120 |
1 |
40091398 |
missense variant |
T/A
|
snv
|
7.0E-04
|
6.0E-04
|
Movement Disorders
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137852696
|
0.882 |
0.120 |
1 |
40092409 |
missense variant |
T/G
|
snv
|
1.6E-05
|
5.6E-05
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
9 |
1995 |
2013 |
rs137852696
|
0.882 |
0.120 |
1 |
40092409 |
missense variant |
T/G
|
snv
|
1.6E-05
|
5.6E-05
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs137852696
|
0.882 |
0.120 |
1 |
40092409 |
missense variant |
T/G
|
snv
|
1.6E-05
|
5.6E-05
|
Infantile neuronal ceroid lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |
rs137852697
|
1.000 |
0.120 |
1 |
40092171 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
rs137852698
|
0.925 |
0.120 |
1 |
40078630 |
missense variant |
A/T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1995 |
2012 |
rs137852698
|
0.925 |
0.120 |
1 |
40078630 |
missense variant |
A/T
|
snv
|
|
|
Infantile neuronal ceroid lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |
rs137852699
|
1.000 |
0.120 |
1 |
40097210 |
stop gained |
A/T
|
snv
|
8.0E-05
|
4.2E-05
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
9 |
1998 |
2014 |
rs137852700
|
0.851 |
0.120 |
1 |
40089495 |
stop gained |
G/A;C
|
snv
|
2.4E-04;
1.2E-05
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
4 |
1998 |
2013 |
rs137852700
|
0.851 |
0.120 |
1 |
40089495 |
stop gained |
G/A;C
|
snv
|
2.4E-04;
1.2E-05
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.710 |
1.000 |
4 |
1998 |
2014 |
rs137852700
|
0.851 |
0.120 |
1 |
40089495 |
stop gained |
G/A;C
|
snv
|
2.4E-04;
1.2E-05
|
|
Infantile neuronal ceroid lipofuscinosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.020 |
1.000 |
2 |
2009 |
2015 |