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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
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 |
|
|
rs387907330
|
1.000 |
0.080 |
X |
49075866 |
splice region variant |
C/G
|
snv
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs387907331
|
1.000 |
0.080 |
X |
49076431 |
frameshift variant |
-/T
|
delins
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs387907332
|
1.000 |
0.080 |
X |
49075636 |
stop gained |
G/A
|
snv
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs797046100
|
1.000 |
0.080 |
X |
49074856 |
missense variant |
T/C
|
snv
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs797046103
|
1.000 |
0.080 |
X |
49075361 |
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 |
|
|
rs797046105
|
1.000 |
0.080 |
X |
49075142 |
frameshift variant |
-/A
|
delins
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs869312661
|
0.925 |
0.160 |
X |
49075135 |
splice donor variant |
C/T
|
snv
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs878855326
|
1.000 |
0.080 |
X |
49075659 |
missense variant |
C/T
|
snv
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs886041381
|
1.000 |
0.080 |
X |
49075685 |
frameshift variant |
AT/-
|
delins
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs886041693
|
1.000 |
0.080 |
X |
49075947 |
splice acceptor variant |
T/C;G
|
snv
|
|
|
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
0.700 |
|
0 |
|
|
rs886041382
|
0.925 |
0.080 |
X |
49078077 |
stop gained |
G/A
|
snv
|
|
|
Overgrowth
|
|
0.700 |
1.000 |
10 |
2010 |
2017 |
rs864309661
|
1.000 |
0.080 |
X |
49077715 |
inframe deletion |
CCA/-
|
delins
|
|
|
Poor school performance
|
|
0.700 |
1.000 |
3 |
2012 |
2013 |
rs1057519622
|
1.000 |
0.080 |
X |
49078038 |
splice donor variant |
AC/-
|
delins
|
|
|
Poor school performance
|
|
0.700 |
|
0 |
|
|
rs797046101
|
0.851 |
0.280 |
X |
49076469 |
stop gained |
G/A
|
snv
|
|
|
Salaam Seizures
|
Nervous System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |
rs864309661
|
1.000 |
0.080 |
X |
49077715 |
inframe deletion |
CCA/-
|
delins
|
|
|
Seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2012 |
2013 |
rs797046101
|
0.851 |
0.280 |
X |
49076469 |
stop gained |
G/A
|
snv
|
|
|
Seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2015 |
2015 |