rs1555533842
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
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
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
GC
0.700
CausalMutation
CLINVAR
Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.
16542390
2006
rs1555533842
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
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
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
GC
0.700
CausalMutation
CLINVAR
Pulmonary stenosis, café-au-lait spots, and dull intelligence.
6025371
1967
rs1555533842
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
GC
0.700
CausalMutation
CLINVAR
Watson syndrome: is it a subtype of type 1 neurofibromatosis?
1770531
1991
rs1555533842
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
GC
0.700
CausalMutation
CLINVAR
Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.
22429592
2012
rs1555533842
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
GC
0.700
CausalMutation
CLINVAR
Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.
15221447
2004
rs1555533842
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
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
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
GC
0.700
CausalMutation
CLINVAR
Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.
18172006
2008
rs1555533842
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
GC
0.700
CausalMutation
CLINVAR
Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1.
24219125
2014
rs1555533842
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
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
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
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
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
GC
0.700
CausalMutation
CLINVAR
A prospective study of neurofibromatosis type 1 cancer incidence in the UK.
16786042
2006
rs1555533842
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
GC
0.700
CausalMutation
CLINVAR
The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.
25325900
2014
rs1555533842
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
GC
0.700
CausalMutation
CLINVAR
Emerging genotype-phenotype relationships in patients with large NF1 deletions.
28213670
2017
rs1555533842
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
GC
0.700
CausalMutation
CLINVAR
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.
17105749
2007
rs1555533842
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
GC
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
rs1555533842
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
GC
0.700
CausalMutation
CLINVAR
Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1.
25951773
2016
rs1555533842
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
GC
0.700
CausalMutation
CLINVAR
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
19920235
2009
rs1555533842
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
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
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
GC
0.700
CausalMutation
CLINVAR
A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.
23656349
2014
rs1555533842
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
GC
0.700
CausalMutation
CLINVAR
Do NF1 gene deletions result in a characteristic phenotype?
9375928
1997
rs1555533842
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
GC
0.700
CausalMutation
CLINVAR
Increased risk of breast cancer in women with NF1.
23165953
2012
rs1555533842
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
GC
0.700
CausalMutation
CLINVAR
Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1.
20142468
2010
rs1555533842
×
Entrez Id:
4763
Gene Symbol:
NF1
NF1
Dysmorphic features
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