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 |
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
|
|
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 |
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 |
|
|
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 |
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 |
|
|
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 |
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 |
|
|
rs1555274344
|
1.000 |
0.120 |
13 |
77000605 |
frameshift variant |
CCTTTAAC/-
|
del
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1555274365
|
1.000 |
0.120 |
13 |
77000729 |
frameshift variant |
GGAA/-
|
delins
|
|
|
CEROID LIPOFUSCINOSIS, NEURONAL, 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|