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 |
rs76163360
|
1.000 |
0.080 |
5 |
70951942 |
missense variant |
G/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 |
rs104893922
|
0.925 |
0.080 |
5 |
70946157 |
missense variant |
A/G
|
snv
|
|
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
8 |
1995 |
2011 |
rs104893930
|
1.000 |
0.080 |
5 |
70938845 |
missense variant |
G/A
|
snv
|
|
|
Muscular Atrophy, Spinal, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1997 |
2012 |
rs104893935
|
0.882 |
0.080 |
5 |
70942416 |
missense variant |
C/G
|
snv
|
|
|
Muscular Atrophy, Spinal, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
7 |
1997 |
2012 |
rs104893927
|
1.000 |
0.080 |
5 |
70942367 |
missense variant |
G/C
|
snv
|
|
|
Juvenile Spinal Muscular Atrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
5 |
1997 |
2007 |
rs104893931
|
1.000 |
0.080 |
5 |
70938888 |
missense variant |
A/T
|
snv
|
|
|
Juvenile Spinal Muscular Atrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
5 |
1997 |
2007 |
rs104893932
|
1.000 |
0.080 |
5 |
70946126 |
missense variant |
A/G
|
snv
|
|
|
Juvenile Spinal Muscular Atrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.800 |
1.000 |
5 |
1997 |
2007 |
rs77969175
|
0.925 |
0.080 |
5 |
70951941 |
missense variant |
G/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Muscular Atrophy, Spinal, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
1997 |
2011 |
rs77969175
|
0.925 |
0.080 |
5 |
70951941 |
missense variant |
G/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Juvenile Spinal Muscular Atrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
4 |
1997 |
2004 |
rs141760116
|
0.925 |
0.080 |
5 |
70951939 |
splice acceptor variant |
A/C;G;T
|
snv
|
4.0E-06
|
|
Spinal Muscular Atrophy
|
Nervous System Diseases
|
0.700 |
1.000 |
3 |
2008 |
2015 |
rs1561503058
|
1.000 |
0.040 |
5 |
70951920 |
splice acceptor variant |
CTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT/-
|
del
|
|
|
Spinal Muscular Atrophy
|
Nervous System Diseases
|
0.700 |
1.000 |
3 |
2000 |
2008 |
rs1217001154
|
1.000 |
0.040 |
5 |
70951940 |
splice acceptor variant |
G/A
|
snv
|
4.0E-06
|
|
Spinal Muscular Atrophy
|
Nervous System Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs1554066397
|
0.925 |
0.080 |
5 |
70925108 |
missense variant |
C/G;T
|
snv
|
|
|
Juvenile Spinal Muscular Atrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
1998 |
1998 |
rs1554066397
|
0.925 |
0.080 |
5 |
70925108 |
missense variant |
C/G;T
|
snv
|
|
|
Proximal muscle weakness
|
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
1 |
1998 |
1998 |
rs1554066397
|
0.925 |
0.080 |
5 |
70925108 |
missense variant |
C/G;T
|
snv
|
|
|
Atrophic
|
Pathological Conditions, Signs and Symptoms
|
0.700 |
1.000 |
1 |
1998 |
1998 |
rs1554066659
|
1.000 |
0.080 |
5 |
70946127 |
missense variant |
G/T
|
snv
|
|
|
Juvenile Spinal Muscular Atrophy
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
1997 |
1997 |
rs1561498701
|
1.000 |
0.080 |
5 |
70925150 |
frameshift variant |
-/GGATTCCG
|
delins
|
|
|
Absent reflex
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1561498701
|
1.000 |
0.080 |
5 |
70925150 |
frameshift variant |
-/GGATTCCG
|
delins
|
|
|
Severe muscular hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1561498701
|
1.000 |
0.080 |
5 |
70925150 |
frameshift variant |
-/GGATTCCG
|
delins
|
|
|
Generalized hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1561498701
|
1.000 |
0.080 |
5 |
70925150 |
frameshift variant |
-/GGATTCCG
|
delins
|
|
|
Fasciculation, Tongue
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1561498701
|
1.000 |
0.080 |
5 |
70925150 |
frameshift variant |
-/GGATTCCG
|
delins
|
|
|
Muscular Atrophy, Spinal, Type II
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs1561500847
|
1.000 |
0.080 |
5 |
70946109 |
frameshift variant |
-/CTGATGCTTTG
|
delins
|
|
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
1 |
1996 |
1996 |
rs1561500885
|
1.000 |
0.040 |
5 |
70946138 |
missense variant |
T/C
|
snv
|
|
|
Generalized hypotonia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |