rs386833624
|
1.000 |
0.120 |
1 |
40073532 |
3 prime UTR variant |
TGAT/-
|
del
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833671
|
1.000 |
0.120 |
1 |
40074068 |
missense variant |
A/C;G
|
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 |
rs386833670
|
1.000 |
0.120 |
1 |
40074094 |
stop gained |
C/T
|
snv
|
4.0E-06
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833669
|
1.000 |
0.120 |
1 |
40074096 |
missense variant |
A/G
|
snv
|
|
7.0E-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 |
rs386833668
|
1.000 |
0.120 |
1 |
40074111 |
stop gained |
G/A
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553166135
|
1.000 |
0.120 |
1 |
40074147 |
stop gained |
G/A
|
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 |
rs1553166147
|
1.000 |
0.120 |
1 |
40074185 |
splice acceptor variant |
T/C
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1553166337
|
1.000 |
0.120 |
1 |
40076840 |
splice donor variant |
A/G
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs878853929
|
1.000 |
0.120 |
1 |
40076841 |
splice donor variant |
C/A
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
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 |
rs386833667
|
1.000 |
0.120 |
1 |
40076865 |
stop gained |
-/T
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs386833666
|
1.000 |
0.120 |
1 |
40076891 |
missense variant |
C/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 |
rs386833665
|
1.000 |
0.120 |
1 |
40076901 |
missense variant |
A/G
|
snv
|
8.0E-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 |
rs386833664
|
1.000 |
0.120 |
1 |
40076915 |
splice acceptor variant |
T/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 |
|
0 |
|
|
rs1553166499
|
1.000 |
0.120 |
1 |
40078565 |
frameshift variant |
A/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs878853322
|
0.925 |
0.160 |
1 |
40078573 |
missense variant |
G/A
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs878853322
|
0.925 |
0.160 |
1 |
40078573 |
missense variant |
G/A
|
snv
|
|
|
Seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs878853322
|
0.925 |
0.160 |
1 |
40078573 |
missense variant |
G/A
|
snv
|
|
|
Cerebral atrophy
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs878853322
|
0.925 |
0.160 |
1 |
40078573 |
missense variant |
G/A
|
snv
|
|
|
Reduced visual acuity
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs878853324
|
0.882 |
0.160 |
1 |
40078579 |
missense variant |
A/T
|
snv
|
|
|
Seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs878853324
|
0.882 |
0.160 |
1 |
40078579 |
missense variant |
A/T
|
snv
|
|
|
Cerebral atrophy
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs878853324
|
0.882 |
0.160 |
1 |
40078579 |
missense 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 |
|
|
rs878853324
|
0.882 |
0.160 |
1 |
40078579 |
missense variant |
A/T
|
snv
|
|
|
Reduced visual acuity
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs878853324
|
0.882 |
0.160 |
1 |
40078579 |
missense variant |
A/T
|
snv
|
|
|
Cerebellar cortical atrophy
|
|
0.700 |
|
0 |
|
|