rs397517076
|
0.925 |
0.160 |
11 |
119278165 |
splice acceptor variant |
G/C;T
|
snv
|
|
|
Dysmorphic features
|
|
0.700 |
1.000 |
7 |
2010 |
2017 |
rs11217191
|
|
|
11 |
119223937 |
intron variant |
G/A;T
|
snv
|
|
|
Platelet Count measurement
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs267606706
|
0.807 |
0.240 |
11 |
119278181 |
missense variant |
T/A;C
|
snv
|
8.0E-06
|
|
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
|
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs36109901
|
|
|
11 |
119212608 |
intron variant |
A/C
|
snv
|
|
0.27
|
Platelet Count measurement
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs4938642
|
1.000 |
0.040 |
11 |
119229196 |
intron variant |
G/C
|
snv
|
|
6.0E-02
|
Platelet Count measurement
|
|
0.800 |
1.000 |
1 |
2011 |
2011 |
rs68034047
|
|
|
11 |
119260224 |
intron variant |
TT/-;T;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTTT
|
delins
|
|
|
Reticulocyte count (procedure)
|
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs7108857
|
|
|
11 |
119206293 |
upstream gene variant |
C/G;T
|
snv
|
|
|
Platelet Count measurement
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs757874631
|
0.882 |
0.120 |
11 |
119278211 |
missense variant |
T/A;C
|
snv
|
|
|
Adult Acute Lymphocytic Leukemia
|
|
0.010 |
1.000 |
1 |
2012 |
2012 |
rs267606704
|
1.000 |
|
11 |
119278170 |
missense variant |
A/C;G
|
snv
|
|
|
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
|
|
0.800 |
|
0 |
|
|
rs267606705
|
0.925 |
0.040 |
11 |
119278214 |
missense variant |
A/G
|
snv
|
|
|
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
|
|
0.800 |
|
0 |
|
|
rs267606706
|
0.807 |
0.240 |
11 |
119278181 |
missense variant |
T/A;C
|
snv
|
8.0E-06
|
|
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
|
|
0.700 |
|
0 |
|
|
rs267606706
|
0.807 |
0.240 |
11 |
119278181 |
missense variant |
T/A;C
|
snv
|
8.0E-06
|
|
Short stature
|
|
0.700 |
|
0 |
|
|
rs267606707
|
1.000 |
|
11 |
119278238 |
missense variant |
G/T
|
snv
|
|
|
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
|
|
0.800 |
|
0 |
|
|
rs267606708
|
0.925 |
0.040 |
11 |
119278541 |
missense variant |
G/A
|
snv
|
4.0E-06
|
2.1E-05
|
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
|
|
0.800 |
|
0 |
|
|
rs387906664
|
1.000 |
|
11 |
119278220 |
missense variant |
T/C;G
|
snv
|
|
|
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
|
|
0.700 |
|
0 |
|
|
rs387906665
|
1.000 |
|
11 |
119278256 |
missense variant |
T/A;C
|
snv
|
|
|
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
|
|
0.700 |
|
0 |
|
|
rs387906666
|
0.827 |
0.080 |
11 |
119278182 |
missense variant |
A/C;G
|
snv
|
|
|
NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
|
|
0.700 |
|
0 |
|
|
rs387906666
|
0.827 |
0.080 |
11 |
119278182 |
missense variant |
A/C;G
|
snv
|
|
|
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
|
|
0.700 |
|
0 |
|
|
rs397507489
|
1.000 |
|
11 |
119232558 |
stop gained |
T/C;G
|
snv
|
4.0E-06
|
|
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
|
|
0.700 |
|
0 |
|
|
rs397517077
|
0.851 |
0.320 |
11 |
119278162 |
splice acceptor variant |
AAAG/-
|
del
|
|
|
High, narrow palate
|
|
0.700 |
|
0 |
|
|
rs397517077
|
0.851 |
0.320 |
11 |
119278162 |
splice acceptor variant |
AAAG/-
|
del
|
|
|
Broad thumbs
|
|
0.700 |
|
0 |
|
|
rs397517077
|
0.851 |
0.320 |
11 |
119278162 |
splice acceptor variant |
AAAG/-
|
del
|
|
|
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
|
|
0.700 |
|
0 |
|
|
rs397517077
|
0.851 |
0.320 |
11 |
119278162 |
splice acceptor variant |
AAAG/-
|
del
|
|
|
Posteriorly rotated ear
|
|
0.700 |
|
0 |
|
|
rs397517077
|
0.851 |
0.320 |
11 |
119278162 |
splice acceptor variant |
AAAG/-
|
del
|
|
|
High forehead
|
|
0.700 |
|
0 |
|
|
rs727504640
|
1.000 |
|
11 |
119285379 |
missense variant |
G/A;T
|
snv
|
1.2E-05;
8.0E-06
|
|
NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
|
|
0.700 |
|
0 |
|
|