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 |
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 |
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 |
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 |
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 |
rs546989392
|
0.925 |
0.120 |
13 |
76996010 |
stop gained |
C/T
|
snv
|
2.0E-05
|
7.7E-05
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs546989392
|
0.925 |
0.120 |
13 |
76996010 |
stop gained |
C/T
|
snv
|
2.0E-05
|
7.7E-05
|
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 |
rs104894385
|
0.925 |
0.120 |
13 |
76992176 |
stop gained |
G/A;T
|
snv
|
2.7E-05;
3.1E-05
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555274338
|
1.000 |
0.120 |
13 |
77000567 |
stop gained |
G/A;C
|
snv
|
|
|
Poor school performance
|
|
0.700 |
|
0 |
|
|
rs1555274338
|
1.000 |
0.120 |
13 |
77000567 |
stop gained |
G/A;C
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs200348035
|
1.000 |
0.120 |
13 |
76992182 |
stop gained |
G/A;T
|
snv
|
4.5E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs374431043
|
|
|
13 |
77018626 |
stop gained |
G/A;C;T
|
snv
|
4.2E-06
|
|
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Wounds and Injuries
|
0.700 |
|
0 |
|
|
rs386833963
|
1.000 |
0.120 |
13 |
77000771 |
stop gained |
C/A
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833974
|
1.000 |
0.120 |
13 |
76995980 |
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 |
|
0 |
|
|
rs750935331
|
1.000 |
0.120 |
13 |
77000850 |
stop gained |
C/G;T
|
snv
|
4.1E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs764495616
|
1.000 |
0.120 |
13 |
77000685 |
stop gained |
G/C;T
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs764790770
|
1.000 |
0.120 |
13 |
76992175 |
stop gained |
G/A;C
|
snv
|
2.2E-04
|
2.8E-05
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
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 |
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 |