rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.
|
23047742 |
2013 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
|
22604720 |
2012 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.
|
18172006 |
2008 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.
|
27322474 |
2016 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
|
26178382 |
2015 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.
|
23656349 |
2014 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Pulmonary stenosis, café-au-lait spots, and dull intelligence.
|
6025371 |
1967 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract.
|
27170677 |
2017 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.
|
23354915 |
2013 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Emerging genotype-phenotype relationships in patients with large NF1 deletions.
|
28213670 |
2017 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.
|
22429592 |
2012 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening.
|
17369502 |
2007 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1.
|
25951773 |
2016 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.
|
16835897 |
2006 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Legius syndrome in fourteen families.
|
21089071 |
2011 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
|
19920235 |
2009 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.
|
15221447 |
2004 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.
|
25325900 |
2014 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.
|
22041710 |
2011 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
A prospective study of neurofibromatosis type 1 cancer incidence in the UK.
|
16786042 |
2006 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.
|
16542390 |
2006 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Neurofibromatosis type 1.
|
19539839 |
2009 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.
|
23812910 |
2013 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Do NF1 gene deletions result in a characteristic phenotype?
|
9375928 |
1997 |
rs1555533842
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.
|
17105749 |
2007 |