rs1555533842
|
|
Muscle hypotonia
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract.
|
27170677 |
2017 |
rs1555533842
|
|
Muscle hypotonia
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
Emerging genotype-phenotype relationships in patients with large NF1 deletions.
|
28213670 |
2017 |
rs1555533842
|
|
Muscle hypotonia
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1.
|
25951773 |
2016 |
rs1555533842
|
|
Muscle hypotonia
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.
|
26758488 |
2016 |
rs1555533842
|
|
Muscle hypotonia
|
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
|
|
Muscle hypotonia
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency.
|
25324428 |
2015 |
rs1555533842
|
|
Muscle hypotonia
|
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
|
|
Muscle hypotonia
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.
|
23656349 |
2014 |
rs1555533842
|
|
Muscle hypotonia
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.
|
25325900 |
2014 |
rs1555533842
|
|
Muscle hypotonia
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1.
|
24219125 |
2014 |
rs1555533842
|
|
Muscle hypotonia
|
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
|
|
Muscle hypotonia
|
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
|
|
Muscle hypotonia
|
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
|
|
Muscle hypotonia
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
|
22604720 |
2012 |
rs1555533842
|
|
Muscle hypotonia
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.
|
22429592 |
2012 |
rs1555533842
|
|
Muscle hypotonia
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
Increased risk of breast cancer in women with NF1.
|
23165953 |
2012 |
rs1555533842
|
|
Muscle hypotonia
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
|
23244495 |
2012 |
rs1555533842
|
|
Muscle hypotonia
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
Legius syndrome in fourteen families.
|
21089071 |
2011 |
rs1555533842
|
|
Muscle hypotonia
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.
|
22041710 |
2011 |
rs1555533842
|
|
Muscle hypotonia
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1.
|
20142468 |
2010 |
rs1555533842
|
|
Muscle hypotonia
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
|
19920235 |
2009 |
rs1555533842
|
|
Muscle hypotonia
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
Neurofibromatosis type 1 revisited.
|
19117870 |
2009 |
rs1555533842
|
|
Muscle hypotonia
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
Neurofibromatosis type 1.
|
19539839 |
2009 |
rs1555533842
|
|
Muscle hypotonia
|
GC |
0.700 |
CausalMutation
|
CLINVAR |
Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.
|
18172006 |
2008 |
rs1555533842
|
|
Muscle hypotonia
|
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 |