rs1057519622
|
1.000 |
0.080 |
X |
49078038 |
splice donor variant |
AC/-
|
delins
|
|
|
Poor school performance
|
|
0.700 |
|
0 |
|
|
rs1057519622
|
1.000 |
0.080 |
X |
49078038 |
splice donor variant |
AC/-
|
delins
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1557083830
|
1.000 |
0.080 |
X |
49074913 |
splice acceptor variant |
C/T
|
snv
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1557083878
|
1.000 |
0.080 |
X |
49075157 |
frameshift variant |
-/GG
|
delins
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1557083958
|
1.000 |
0.080 |
X |
49075363 |
splice donor variant |
C/G;T
|
snv
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
5 |
2012 |
2017 |
rs1557084113
|
1.000 |
0.080 |
X |
49075863 |
splice region variant |
CAC/-
|
delins
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1557084120
|
1.000 |
|
X |
49075874 |
stop gained |
G/A
|
snv
|
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
10 |
2010 |
2017 |
rs1557084120
|
1.000 |
|
X |
49075874 |
stop gained |
G/A
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
10 |
2010 |
2017 |
rs1557084239
|
1.000 |
0.080 |
X |
49076457 |
frameshift variant |
-/A
|
delins
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1557084491
|
1.000 |
0.080 |
X |
49077749 |
splice acceptor variant |
T/C
|
snv
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
3 |
2012 |
2015 |
rs1557084549
|
|
|
X |
49078050 |
stop gained |
G/A
|
snv
|
|
|
Movement Disorders
|
Nervous System Diseases
|
0.700 |
1.000 |
10 |
2010 |
2017 |
rs1569523468
|
1.000 |
0.080 |
X |
49075612 |
frameshift variant |
AG/-
|
delins
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1569523502
|
1.000 |
0.080 |
X |
49076450 |
inframe deletion |
TCAAAC/-
|
delins
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1569523537
|
1.000 |
0.080 |
X |
49077664 |
stop gained |
-/ACTA
|
delins
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs1569523544
|
1.000 |
0.240 |
X |
49077733 |
splice acceptor variant |
CCTGCTCGTGGTCTGGACAGGGACCA/-
|
delins
|
|
|
X-linked cerebral, cerebellar, coloboma syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1569523565
|
1.000 |
0.080 |
X |
49078094 |
start lost |
A/T
|
snv
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs387907328
|
1.000 |
0.080 |
X |
49074881 |
frameshift variant |
AT/-
|
delins
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs387907329
|
0.827 |
0.200 |
X |
49075573 |
stop gained |
G/A;T
|
snv
|
5.5E-06
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
10 |
2010 |
2017 |
rs387907329
|
0.827 |
0.200 |
X |
49075573 |
stop gained |
G/A;T
|
snv
|
5.5E-06
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
10 |
2010 |
2017 |
rs387907329
|
0.827 |
0.200 |
X |
49075573 |
stop gained |
G/A;T
|
snv
|
5.5E-06
|
|
Multiple congenital anomalies
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
0.700 |
1.000 |
10 |
2010 |
2017 |
rs387907329
|
0.827 |
0.200 |
X |
49075573 |
stop gained |
G/A;T
|
snv
|
5.5E-06
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
1.000 |
5 |
2012 |
2019 |
rs387907329
|
0.827 |
0.200 |
X |
49075573 |
stop gained |
G/A;T
|
snv
|
5.5E-06
|
|
Delayed speech and language development
|
Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs387907329
|
0.827 |
0.200 |
X |
49075573 |
stop gained |
G/A;T
|
snv
|
5.5E-06
|
|
Gross motor development delay
|
Mental Disorders
|
0.700 |
|
0 |
|
|
rs387907329
|
0.827 |
0.200 |
X |
49075573 |
stop gained |
G/A;T
|
snv
|
5.5E-06
|
|
Global developmental delay
|
|
0.700 |
|
0 |
|
|
rs387907329
|
0.827 |
0.200 |
X |
49075573 |
stop gained |
G/A;T
|
snv
|
5.5E-06
|
|
Hypoplasia of corpus callosum
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|