rs1060499653
|
1.000 |
0.120 |
X |
103785752 |
stop gained |
G/T
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060500909
|
0.925 |
0.120 |
X |
103785717 |
missense variant |
T/C
|
snv
|
|
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1060500909
|
0.925 |
0.120 |
X |
103785717 |
missense variant |
T/C
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1064794255
|
1.000 |
0.120 |
X |
103785675 |
missense variant |
G/A
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1135401759
|
0.925 |
0.080 |
X |
103786638 |
missense variant |
A/G
|
snv
|
|
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1135401759
|
0.925 |
0.080 |
X |
103786638 |
missense variant |
A/G
|
snv
|
|
|
Generalized limb muscle atrophy
|
|
0.700 |
|
0 |
|
|
rs1135401759
|
0.925 |
0.080 |
X |
103786638 |
missense variant |
A/G
|
snv
|
|
|
Spastic gait
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs11543022
|
1.000 |
0.120 |
X |
103785621 |
missense variant |
C/T
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs132630278
|
1.000 |
0.120 |
X |
103788460 |
missense variant |
C/T
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1989 |
2000 |
rs132630279
|
1.000 |
0.120 |
X |
103787831 |
missense variant |
T/C
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1989 |
2000 |
rs132630280
|
1.000 |
0.120 |
X |
103787811 |
missense variant |
C/G;T
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1989 |
2000 |
rs132630281
|
1.000 |
0.120 |
X |
103788469 |
missense variant |
G/T
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1989 |
2000 |
rs132630282
|
1.000 |
0.120 |
X |
103787888 |
missense variant |
A/C
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1989 |
2000 |
rs132630283
|
1.000 |
0.120 |
X |
103788485 |
missense variant |
T/C
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1989 |
2000 |
rs132630284
|
1.000 |
0.120 |
X |
103787951 |
missense variant |
G/A;C
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1989 |
2000 |
rs132630285
|
1.000 |
0.120 |
X |
103786493 |
missense variant |
G/A
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1989 |
2000 |
rs132630286
|
0.925 |
0.120 |
X |
103788475 |
missense variant |
G/T
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
1.000 |
20 |
1989 |
2000 |
rs132630286
|
0.925 |
0.120 |
X |
103788475 |
missense variant |
G/T
|
snv
|
|
|
PELIZAEUS-MERZBACHER DISEASE, CONNATAL
|
|
0.700 |
|
0 |
|
|
rs132630287
|
1.000 |
0.080 |
X |
103786691 |
missense variant |
C/T
|
snv
|
|
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
10 |
1994 |
2014 |
rs132630288
|
1.000 |
0.080 |
X |
103787904 |
missense variant |
T/C
|
snv
|
|
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
10 |
1994 |
2014 |
rs132630289
|
1.000 |
0.120 |
X |
103785705 |
missense variant |
C/T
|
snv
|
|
|
Pelizaeus-Merzbacher Disease
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.800 |
1.000 |
20 |
1989 |
2000 |
rs132630290
|
1.000 |
|
X |
103776998 |
start lost |
G/A
|
snv
|
|
|
PELIZAEUS-MERZBACHER DISEASE, MILD
|
|
0.700 |
|
0 |
|
|
rs132630291
|
1.000 |
0.080 |
X |
103789346 |
missense variant |
T/C
|
snv
|
|
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs132630292
|
0.925 |
0.120 |
X |
103786707 |
stop gained |
G/A
|
snv
|
|
|
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
1997 |
1997 |
rs132630292
|
0.925 |
0.120 |
X |
103786707 |
stop gained |
G/A
|
snv
|
|
|
Pelizaeus-Merzbacher Disease, Atypical
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|