rs28940280
|
0.925 |
0.120 |
13 |
77000580 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.810 |
1.000 |
10 |
1998 |
2015 |
rs104894386
|
0.925 |
0.120 |
13 |
76995077 |
missense variant |
G/A;C
|
snv
|
8.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
10 |
1998 |
2015 |
rs148862100
|
1.000 |
0.120 |
13 |
77000866 |
missense variant |
A/G
|
snv
|
1.3E-05
|
7.0E-06
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
10 |
1998 |
2015 |
rs386833975
|
0.925 |
0.120 |
13 |
76995990 |
missense variant |
A/G
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
10 |
1998 |
2015 |
rs386833976
|
1.000 |
0.120 |
13 |
76996008 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
10 |
1998 |
2015 |
rs386833977
|
1.000 |
0.120 |
13 |
76996028 |
missense variant |
C/T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
10 |
1998 |
2015 |
rs386833978
|
1.000 |
0.120 |
13 |
76996035 |
missense variant |
G/C
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
10 |
1998 |
2015 |
rs386833981
|
0.925 |
0.120 |
13 |
77000517 |
missense variant |
T/G
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
10 |
1998 |
2015 |
rs386833968
|
1.000 |
0.120 |
13 |
77000882 |
stop gained |
G/A;T
|
snv
|
4.3E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
10 |
1998 |
2015 |
rs386833966
|
0.925 |
0.120 |
13 |
77000824 |
frameshift variant |
T/-
|
delins
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1998 |
2013 |
rs386833969
|
0.925 |
0.120 |
13 |
77000918 |
frameshift variant |
AT/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
6 |
1998 |
2013 |
rs386833969
|
0.925 |
0.120 |
13 |
77000918 |
frameshift variant |
AT/-
|
delins
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2002 |
2013 |
rs386833980
|
0.925 |
0.120 |
13 |
76996086 |
stop gained |
G/A
|
snv
|
1.6E-05
|
3.5E-05
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2010 |
2015 |
rs1555274387
|
1.000 |
0.120 |
13 |
77000883 |
frameshift variant |
T/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2002 |
2013 |
rs386833967
|
0.925 |
0.120 |
13 |
77000845 |
frameshift variant |
AACA/-
|
delins
|
|
2.8E-05
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2008 |
2012 |
rs386833979
|
0.925 |
0.120 |
13 |
76996083 |
frameshift variant |
-/C
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2000 |
2012 |
rs386833980
|
0.925 |
0.120 |
13 |
76996086 |
stop gained |
G/A
|
snv
|
1.6E-05
|
3.5E-05
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2009 |
2015 |
rs104894385
|
0.925 |
0.120 |
13 |
76992176 |
stop gained |
G/A;T
|
snv
|
2.7E-05;
3.1E-05
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2000 |
2002 |
rs121908292
|
1.000 |
0.120 |
13 |
77000799 |
stop gained |
G/T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2008 |
2013 |
rs587780315
|
1.000 |
0.120 |
13 |
76996086 |
frameshift variant |
G/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2010 |
2013 |
rs786204644
|
0.925 |
0.120 |
13 |
77000667 |
frameshift variant |
AT/-
|
delins
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
1998 |
2012 |
rs869312751
|
1.000 |
0.120 |
13 |
76996109 |
stop gained |
C/T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2012 |
2015 |
rs1555274373
|
1.000 |
0.120 |
13 |
77000808 |
frameshift variant |
T/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs386833971
|
1.000 |
0.120 |
13 |
76995175 |
stop gained |
C/T
|
snv
|
2.4E-05
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs386833972
|
1.000 |
0.120 |
13 |
76995939 |
stop gained |
T/G
|
snv
|
4.0E-06;
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |