rs121913663
|
1.000 |
0.080 |
8 |
24956098 |
stop gained |
C/A;T
|
snv
|
4.2E-06;
4.2E-06
|
|
Charcot-Marie-Tooth disease, demyelinating, Type 1F
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1411999109
|
1.000 |
0.080 |
8 |
24955720 |
missense variant |
C/T
|
snv
|
4.0E-06
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs191346286
|
1.000 |
0.080 |
8 |
24953704 |
stop gained |
G/A;T
|
snv
|
4.4E-05
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs199422214
|
1.000 |
0.080 |
8 |
24955888 |
stop gained |
C/A;G
|
snv
|
1.7E-05
|
|
Charcot-Marie-Tooth disease, demyelinating, Type 1F
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs281865140
|
0.925 |
0.080 |
8 |
24955515 |
missense variant |
T/C;G
|
snv
|
|
|
Hereditary Motor and Sensory Neuropathy Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs28928910
|
0.827 |
0.200 |
8 |
24956452 |
missense variant |
G/A;T
|
snv
|
|
|
Peripheral Neuropathy
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs28928910
|
0.827 |
0.200 |
8 |
24956452 |
missense variant |
G/A;T
|
snv
|
|
|
Hereditary Motor and Sensory Neuropathy Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs28928910
|
0.827 |
0.200 |
8 |
24956452 |
missense variant |
G/A;T
|
snv
|
|
|
Distal lower limb muscle weakness
|
|
0.700 |
|
0 |
|
|
rs28928910
|
0.827 |
0.200 |
8 |
24956452 |
missense variant |
G/A;T
|
snv
|
|
|
Decreased nerve conduction velocity
|
|
0.700 |
|
0 |
|
|
rs28928910
|
0.827 |
0.200 |
8 |
24956452 |
missense variant |
G/A;T
|
snv
|
|
|
Peripheral demyelination
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs28928910
|
0.827 |
0.200 |
8 |
24956452 |
missense variant |
G/A;T
|
snv
|
|
|
Distal muscle weakness
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs28928910
|
0.827 |
0.200 |
8 |
24956452 |
missense variant |
G/A;T
|
snv
|
|
|
Hand muscle atrophy
|
|
0.700 |
|
0 |
|
|
rs28928910
|
0.827 |
0.200 |
8 |
24956452 |
missense variant |
G/A;T
|
snv
|
|
|
Congenital pes cavus
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
0.700 |
|
0 |
|
|
rs28928910
|
0.827 |
0.200 |
8 |
24956452 |
missense variant |
G/A;T
|
snv
|
|
|
Charcot-Marie-Tooth disease, Type 1C
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs58332872
|
0.882 |
0.080 |
8 |
24956248 |
missense variant |
C/T
|
snv
|
|
|
Charcot-Marie-Tooth disease, demyelinating, Type 1F
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs58640772
|
1.000 |
0.080 |
8 |
24956455 |
frameshift variant |
-/TCCACGTAGCGCC
|
delins
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs58982919
|
0.790 |
0.080 |
8 |
24956223 |
missense variant |
T/C
|
snv
|
|
|
Hereditary Motor and Sensory Neuropathy Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs59101996
|
0.925 |
0.080 |
8 |
24956070 |
missense variant |
G/A
|
snv
|
|
|
Hereditary Motor and Sensory Neuropathy Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs60261494
|
0.882 |
0.080 |
8 |
24956493 |
missense variant |
GG/CT
|
mnv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs60261494
|
0.882 |
0.080 |
8 |
24956493 |
missense variant |
GG/CT
|
mnv
|
|
|
Charcot-Marie-Tooth disease, demyelinating, Type 1F
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
|
0 |
|
|
rs60261494
|
0.882 |
0.080 |
8 |
24956493 |
missense variant |
GG/CT
|
mnv
|
|
|
Charcot-Marie-Tooth disease, Type 2B1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs61491953
|
0.925 |
0.080 |
8 |
24956493 |
missense variant |
G/A;C;T
|
snv
|
|
|
Hereditary Motor and Sensory Neuropathy Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs62636505
|
0.925 |
0.080 |
8 |
24956235 |
missense variant |
A/G
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs757417962
|
1.000 |
0.080 |
8 |
24954233 |
stop gained |
G/A;C
|
snv
|
2.0E-05
|
7.0E-06
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs876661155
|
1.000 |
0.080 |
8 |
24956029 |
stop gained |
C/A;G
|
snv
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|