rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.
|
22041710 |
2011 |
rs1555534380
|
|
Dysmorphic features
|
A |
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 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.
|
16542390 |
2006 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.
|
10726756 |
2000 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.
|
18172006 |
2008 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Emerging genotype-phenotype relationships in patients with large NF1 deletions.
|
28213670 |
2017 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract.
|
27170677 |
2017 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A prospective study of neurofibromatosis type 1 cancer incidence in the UK.
|
16786042 |
2006 |
rs1555534380
|
|
Dysmorphic features
|
A |
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 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Neurofibromatosis type 1.
|
19539839 |
2009 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency.
|
25324428 |
2015 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.
|
15221447 |
2004 |
rs1555534380
|
|
Dysmorphic features
|
A |
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 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1.
|
20142468 |
2010 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
|
22604720 |
2012 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Watson syndrome: is it a subtype of type 1 neurofibromatosis?
|
1770531 |
1991 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.
|
23656349 |
2014 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Pulmonary stenosis, café-au-lait spots, and dull intelligence.
|
6025371 |
1967 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Legius syndrome in fourteen families.
|
21089071 |
2011 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1.
|
25951773 |
2016 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Neurofibromatosis type 1 revisited.
|
19117870 |
2009 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Do NF1 gene deletions result in a characteristic phenotype?
|
9375928 |
1997 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1.
|
24219125 |
2014 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Increased risk of breast cancer in women with NF1.
|
23165953 |
2012 |
rs1555534380
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.
|
22429592 |
2012 |