rs869025188
|
|
1.000 |
|
13 |
101229530 |
frameshift variant
|
A/-
|
del
|
|
|
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
|
0.700 |
|
0 |
|
|
rs786203985
|
|
1.000 |
|
13 |
101292228 |
missense variant
|
A/C
|
snv
|
|
|
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
|
0.800 |
1.000 |
1 |
2015 |
2015 |
rs878853127
|
|
1.000 |
|
13 |
101068026 |
missense variant
|
A/C
|
snv
|
|
|
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
|
0.800 |
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 |
rs786203987
|
|
1.000 |
|
13 |
101229493 |
missense variant
|
A/G
|
snv
|
|
|
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
|
0.800 |
1.000 |
1 |
2015 |
2015 |
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 |
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
|
|
Muscle hypotonia
|
0.700 |
1.000 |
9 |
2013 |
2017 |
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 |
|
|
rs587777068
|
|
1.000 |
|
13 |
101081552 |
missense variant
|
C/A
|
snv
|
|
|
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
|
0.800 |
1.000 |
0 |
2013 |
2013 |
rs1555373511
|
|
|
|
13 |
101062119 |
splice acceptor variant
|
C/G
|
snv
|
|
|
Muscle hypotonia
|
0.700 |
1.000 |
9 |
2013 |
2017 |
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 |
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 |
rs1555379886
|
|
1.000 |
|
13 |
101095574 |
stop gained
|
C/T
|
snv
|
|
|
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
|
0.700 |
|
0 |
|
|
rs1566460907
|
|
1.000 |
|
13 |
101229448 |
missense variant
|
C/T
|
snv
|
|
|
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
|
0.700 |
|
0 |
|
|
rs786203986
|
|
0.925 |
|
13 |
101176371 |
missense variant
|
G/A;C
|
snv
|
4.3E-06
|
|
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
|
0.810 |
1.000 |
1 |
2015 |
2016 |
rs587777038
|
|
1.000 |
|
13 |
101144812 |
stop gained
|
G/A;C
|
snv
|
|
|
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1
|
0.700 |
|
0 |
|
|
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 |