rs104893935
|
0.882 |
0.080 |
5 |
70942416 |
missense variant |
C/G
|
snv
|
|
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1170466474
|
1.000 |
0.040 |
5 |
70925180 |
missense variant |
G/A
|
snv
|
8.2E-05
|
|
Spinal Muscular Atrophy
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1170466474
|
1.000 |
0.040 |
5 |
70925180 |
missense variant |
G/A
|
snv
|
8.2E-05
|
|
Fasciculation, Tongue
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1170466474
|
1.000 |
0.040 |
5 |
70925180 |
missense variant |
G/A
|
snv
|
8.2E-05
|
|
Generalized muscle weakness
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs141760116
|
0.925 |
0.080 |
5 |
70951939 |
splice acceptor variant |
A/C;G;T
|
snv
|
4.0E-06
|
|
Muscle hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs141760116
|
0.925 |
0.080 |
5 |
70951939 |
splice acceptor variant |
A/C;G;T
|
snv
|
4.0E-06
|
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554066397
|
0.925 |
0.080 |
5 |
70925108 |
missense variant |
C/G;T
|
snv
|
|
|
Polyminimyoclonus
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554066397
|
0.925 |
0.080 |
5 |
70925108 |
missense variant |
C/G;T
|
snv
|
|
|
Muscular Atrophy, Spinal, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554066397
|
0.925 |
0.080 |
5 |
70925108 |
missense variant |
C/G;T
|
snv
|
|
|
Absent reflex
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554066397
|
0.925 |
0.080 |
5 |
70925108 |
missense variant |
C/G;T
|
snv
|
|
|
Proximal weakness
|
|
0.700 |
|
0 |
|
|
rs1554066666
|
0.925 |
0.080 |
5 |
70946163 |
missense variant |
C/T
|
snv
|
|
|
Juvenile Spinal Muscular Atrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554066666
|
0.925 |
0.080 |
5 |
70946163 |
missense variant |
C/T
|
snv
|
|
|
Muscular Atrophy, Spinal, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554082110
|
0.851 |
0.080 |
5 |
70946065 |
splice acceptor variant |
ATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATATG/-
|
delins
|
|
|
Juvenile Spinal Muscular Atrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554082110
|
0.851 |
0.080 |
5 |
70946065 |
splice acceptor variant |
ATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATATG/-
|
delins
|
|
|
Muscular Atrophy, Spinal, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554082110
|
0.851 |
0.080 |
5 |
70946065 |
splice acceptor variant |
ATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATATG/-
|
delins
|
|
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554082110
|
0.851 |
0.080 |
5 |
70946065 |
splice acceptor variant |
ATAATTCCCCCACCACCTCCCATATGTCCAGATTCTCTTGATGATGCTGATGCTTTGGGAAGTATGTTAATTTCATGGTACATGAGTGGCTATCATACTGGCTATTATATG/-
|
delins
|
|
|
SPINAL MUSCULAR ATROPHY, TYPE IV
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1554082383
|
1.000 |
0.040 |
5 |
70951956 |
frameshift variant |
-/A
|
delins
|
|
|
Spinal Muscular Atrophy
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs1561500842
|
1.000 |
0.080 |
5 |
70946064 |
splice acceptor variant |
A/G
|
snv
|
|
|
Juvenile Spinal Muscular Atrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397514517
|
1.000 |
0.080 |
5 |
70942473 |
missense variant |
A/G
|
snv
|
|
|
Juvenile Spinal Muscular Atrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs397514518
|
1.000 |
0.080 |
5 |
70942472 |
missense variant |
T/C
|
snv
|
|
|
Juvenile Spinal Muscular Atrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs77301881
|
1.000 |
0.080 |
5 |
70946165 |
missense variant |
G/A
|
snv
|
|
|
Juvenile Spinal Muscular Atrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs77804083
|
0.882 |
0.080 |
5 |
70942389 |
stop gained |
G/A
|
snv
|
|
|
Juvenile Spinal Muscular Atrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs77804083
|
0.882 |
0.080 |
5 |
70942389 |
stop gained |
G/A
|
snv
|
|
|
Muscular Atrophy, Spinal, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs104893933
|
1.000 |
0.080 |
5 |
70942430 |
missense variant |
A/T
|
snv
|
|
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
11 |
1995 |
2016 |
rs104893934
|
1.000 |
0.080 |
5 |
70942490 |
missense variant |
C/G
|
snv
|
|
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
11 |
1995 |
2016 |