rs1158141270
|
|
0.925 |
|
13 |
101061967 |
splice donor variant
|
C/A
|
snv
|
4.0E-06
|
|
Muscle hypotonia
|
0.700 |
1.000 |
9 |
2013 |
2017 |
rs1555373511
|
|
|
|
13 |
101062119 |
splice acceptor variant
|
C/G
|
snv
|
|
|
Muscle hypotonia
|
0.700 |
1.000 |
9 |
2013 |
2017 |
rs1057516040
|
|
0.851 |
0.200 |
13 |
101292052 |
missense variant
|
T/C
|
snv
|
|
|
Generalized hypotonia
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057516040
|
|
0.851 |
0.200 |
13 |
101292052 |
missense variant
|
T/C
|
snv
|
|
|
Chin with horizontal crease
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057516040
|
|
0.851 |
0.200 |
13 |
101292052 |
missense variant
|
T/C
|
snv
|
|
|
Sleep Apnea, Central
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057516040
|
|
0.851 |
0.200 |
13 |
101292052 |
missense variant
|
T/C
|
snv
|
|
|
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057516040
|
|
0.851 |
0.200 |
13 |
101292052 |
missense variant
|
T/C
|
snv
|
|
|
Overfolded helix
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057516040
|
|
0.851 |
0.200 |
13 |
101292052 |
missense variant
|
T/C
|
snv
|
|
|
Retrognathia
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1057516040
|
|
0.851 |
0.200 |
13 |
101292052 |
missense variant
|
T/C
|
snv
|
|
|
Arthrogryposis-like hand anomaly
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs786201003
|
|
0.925 |
0.080 |
13 |
101083752 |
missense variant
|
C/T
|
snv
|
|
|
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs869312873
|
|
0.925 |
0.200 |
13 |
101089846 |
splice region variant
|
C/T
|
snv
|
|
7.0E-06
|
Cachexia
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs869312873
|
|
0.925 |
0.200 |
13 |
101089846 |
splice region variant
|
C/T
|
snv
|
|
7.0E-06
|
Severe intellectual disability
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs869312873
|
|
0.925 |
0.200 |
13 |
101089846 |
splice region variant
|
C/T
|
snv
|
|
7.0E-06
|
Abnormal pattern of respiration
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs869312873
|
|
0.925 |
0.200 |
13 |
101089846 |
splice region variant
|
C/T
|
snv
|
|
7.0E-06
|
Strabismus
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs869312873
|
|
0.925 |
0.200 |
13 |
101089846 |
splice region variant
|
C/T
|
snv
|
|
7.0E-06
|
Seizures
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs878853129
|
|
1.000 |
|
13 |
101103179 |
missense variant
|
A/G
|
snv
|
|
|
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs878853130
|
|
1.000 |
|
13 |
101103212 |
missense variant
|
A/G
|
snv
|
|
|
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs878853131
|
|
1.000 |
|
13 |
101229481 |
missense variant
|
G/T
|
snv
|
|
|
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs878853132
|
|
1.000 |
|
13 |
101229485 |
missense variant
|
A/C
|
snv
|
|
|
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs878853133
|
|
1.000 |
|
13 |
101292058 |
missense variant
|
C/T
|
snv
|
|
|
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs1057519432
|
|
1.000 |
|
13 |
101192042 |
missense variant
|
T/C
|
snv
|
|
|
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
|
0.700 |
|
0 |
|
|
rs1057519433
|
|
1.000 |
|
13 |
101292072 |
missense variant
|
A/G
|
snv
|
|
|
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
|
0.700 |
|
0 |
|
|
rs1158141270
|
|
0.925 |
|
13 |
101061967 |
splice donor variant
|
C/A
|
snv
|
4.0E-06
|
|
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
|
0.700 |
|
0 |
|
|
rs1158141270
|
|
0.925 |
|
13 |
101061967 |
splice donor variant
|
C/A
|
snv
|
4.0E-06
|
|
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
|
0.700 |
|
0 |
|
|
rs1158771233
|
|
1.000 |
|
13 |
101068789 |
stop gained
|
G/T
|
snv
|
|
7.0E-06
|
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
|
0.700 |
|
0 |
|
|