rs1057516039
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
rs1057516047
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
rs1057518868
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1057518914
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1114167294
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs113331868
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
rs1163944538
|
|
GA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121908557
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.
|
15596759 |
2004 |
rs121908557
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
[The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis].
|
19065518 |
2008 |
rs121918455
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1294950721
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1334099693
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.
|
30661772 |
2019 |
rs1352010373
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs137852813
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.
|
21387466 |
2011 |
rs137852813
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.
|
20683980 |
2010 |
rs137852813
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.
|
19953625 |
2010 |
rs137852813
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.
|
19020799 |
2008 |
rs137852813
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.
|
17586837 |
2007 |
rs142239530
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs143044921
|
|
A |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs1554643168
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1554643168
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555038029
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555223259
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.
|
29555671 |
2018 |
rs1555226315
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|