rs386833979
|
0.925 |
0.120 |
13 |
76996083 |
frameshift variant |
-/C
|
delins
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
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 |
rs587780315
|
1.000 |
0.120 |
13 |
76996086 |
frameshift variant |
G/-
|
delins
|
|
|
Seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs786204644
|
0.925 |
0.120 |
13 |
77000667 |
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 |
1 |
2012 |
2012 |
rs9565309
|
|
|
13 |
77002892 |
3 prime UTR variant |
T/C
|
snv
|
|
3.6E-02
|
Circadian Rhythms
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
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 |
|
|
rs104894386
|
0.925 |
0.120 |
13 |
76995077 |
missense variant |
G/A;C
|
snv
|
8.0E-06
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516390
|
1.000 |
0.120 |
13 |
76995901 |
splice acceptor variant |
G/-
|
del
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057516814
|
1.000 |
0.120 |
13 |
76992171 |
frameshift variant |
TC/G
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1057517134
|
1.000 |
0.120 |
13 |
76992250 |
frameshift variant |
ACTGGCCGGTGCC/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs147065248
|
1.000 |
0.120 |
13 |
76996034 |
missense variant |
T/C
|
snv
|
1.2E-05
|
7.0E-06
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555273567
|
1.000 |
0.120 |
13 |
76992116 |
frameshift variant |
C/-
|
del
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555273604
|
1.000 |
0.120 |
13 |
76992207 |
frameshift variant |
-/ATCCGGGCTGG
|
delins
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555273609
|
1.000 |
0.120 |
13 |
76992215 |
frameshift variant |
G/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555273881
|
1.000 |
0.120 |
13 |
76995075 |
frameshift variant |
C/-
|
delins
|
|
|
Neuronal Ceroid-Lipofuscinoses
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555273882
|
1.000 |
0.120 |
13 |
76995079 |
frameshift variant |
C/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555273992
|
1.000 |
0.120 |
13 |
76995998 |
frameshift variant |
T/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555274005
|
1.000 |
0.120 |
13 |
76996071 |
frameshift variant |
-/TGATG
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555274014
|
1.000 |
0.120 |
13 |
76996128 |
splice donor variant |
G/A
|
snv
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555274312
|
1.000 |
0.120 |
13 |
77000416 |
splice acceptor variant |
GCTTTGTTCACTAGGTGACTTTGTTTTGTTTTTTTAAACTAGGAAACATGTTCAACCAAATGGCAAAGTGGGTGAAACAGGACAATGAAACAGGAATTTATTATGAGACATGGAATGTAAAAGCCAGCCCAGAAAAGGGGGCAGAGACATGGTTTGATTCCTACGACTGTTCCAAATTTGTGTTAAGGACCTTTAACAAGTTGGCTGAATTTGGAGCAGAGTTCAAGAACATAGAAACCAACTATACAAGAATATTTCTTTACAGTGGAGAACCTACTTATCTGGGAAATGAAACATCTGTTTTTGGGCCAACAGGAAACAAGACTCTTGGTTTAGCCATAAAAAGATTTTATTACCCCTTCAAACCACATTTGCCAACTAAAGAATTTCTGTTGAGTCTCTTGCAAATTTTTGATGCAGTGATTGTGCACAAACAGTTCTATTTGTTTTATAATTTTGAATATTGGTTTTTACCTATGAAATTCCCTTTTATTAAAATAACATATGAAGAAATCCCTTTACCTATCAGAAACAAAACACTCTCTGGTTTATAAAACACCTTAATTCTACTGCTCTTTTTTCTCCAATCACCAGCATCTG/-
|
del
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555274337
|
1.000 |
0.120 |
13 |
77000556 |
frameshift variant |
-/CAGAGACA
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
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 |
|
|
rs1555274343
|
1.000 |
0.120 |
13 |
77000594 |
frameshift variant |
GT/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|