rs267608327
|
0.763 |
0.200 |
X |
154030631 |
splice acceptor variant |
CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-
|
delins
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2000 |
2011 |
rs28934904
|
0.776 |
0.200 |
X |
154031431 |
missense variant |
G/A;C;T
|
snv
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2000 |
2016 |
rs61748390
|
0.925 |
0.080 |
X |
154031427 |
missense variant |
G/A;C
|
snv
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
11 |
2000 |
2015 |
rs28934906
|
0.716 |
0.320 |
X |
154031355 |
missense variant |
G/A
|
snv
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
10 |
1999 |
2016 |
rs61751362
|
0.790 |
0.160 |
X |
154030948 |
stop gained |
G/A;C
|
snv
|
1.6E-05
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
10 |
2000 |
2016 |
rs28935468
|
0.732 |
0.240 |
X |
154030912 |
missense variant |
G/A
|
snv
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
9 |
2000 |
2016 |
rs267608469
|
0.925 |
0.080 |
X |
154031446 |
stop gained |
G/A;C
|
snv
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
8 |
1999 |
2014 |
rs28934908
|
0.732 |
0.280 |
X |
154031409 |
missense variant |
G/A;T
|
snv
|
5.5E-06
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2000 |
2016 |
rs61748404
|
0.882 |
0.120 |
X |
154031373 |
missense variant |
G/C;T
|
snv
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2000 |
2016 |
rs61750240
|
0.752 |
0.240 |
X |
154031020 |
stop gained |
G/A;C
|
snv
|
5.5E-06
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
8 |
2000 |
2013 |
rs267608387
|
1.000 |
0.080 |
X |
154031448 |
missense variant |
G/A
|
snv
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
2001 |
2012 |
rs61748421
|
0.807 |
0.200 |
X |
154031326 |
stop gained |
G/A;T
|
snv
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1999 |
2014 |
rs61749721
|
0.732 |
0.200 |
X |
154031065 |
stop gained |
G/A
|
snv
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
7 |
1975 |
2015 |
rs1569548307
|
1.000 |
0.080 |
X |
154030638 |
splice acceptor variant |
TCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGG/CATCCCAGGACGCAGGTGGATCCGAGTCTGCTGCATAGACGGCCATTAGGTCCCAGGATGGAGCTGGATTCGAGCCTGCTGTGCTCCAAATGGTTACGGTGGTGAATTCTGTT
|
delins
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2000 |
2011 |
rs61748408
|
0.925 |
0.080 |
X |
154031360 |
missense variant |
G/A;C;T
|
snv
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2001 |
2015 |
rs61750256
|
0.925 |
0.080 |
X |
154030969 |
frameshift variant |
CTTT/-
|
delins
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2004 |
2012 |
rs63749748
|
0.882 |
0.080 |
X |
154030628 |
splice acceptor variant |
TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG/-
|
delins
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
6 |
2000 |
2012 |
rs61748420
|
0.851 |
0.200 |
X |
154031329 |
missense variant |
G/A;T
|
snv
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2001 |
2016 |
rs61752992
|
0.807 |
0.120 |
X |
154030621 |
splice acceptor variant |
TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/-
|
delins
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2007 |
2012 |
rs61753972
|
0.925 |
0.080 |
X |
154030519 |
frameshift variant |
AG/-
|
delins
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
5 |
2000 |
2013 |
rs1557135004
|
1.000 |
0.080 |
X |
154030479 |
frameshift variant |
-/A
|
delins
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2000 |
2013 |
rs1557135793
|
0.925 |
0.080 |
X |
154030691 |
frameshift variant |
G/-;GG
|
delins
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
4 |
2004 |
2011 |
rs61749715
|
0.851 |
0.120 |
X |
154031154 |
missense variant |
G/A;C
|
snv
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
3 |
2000 |
2001 |
rs61750241
|
0.807 |
0.080 |
X |
154031022 |
frameshift variant |
C/-
|
delins
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
3 |
1999 |
2012 |
rs1569548376
|
1.000 |
0.080 |
X |
154030827 |
frameshift variant |
TTCCC/-
|
del
|
|
|
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
0.700 |
1.000 |
2 |
2006 |
2010 |