rs1057517967
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
|
25074460 |
2015 |
rs1057518792
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
rs1057518792
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Evaluation of the protein truncation test and mutation detection in the NF1 gene: mutational analysis of 15 known and 40 unknown mutations.
|
10543400 |
1999 |
rs1057518904
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
GABA deficit in the visual cortex of patients with neurofibromatosis type 1: genotype-phenotype correlations and functional impact.
|
23404336 |
2013 |
rs1057518904
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
|
18546366 |
2008 |
rs1057518904
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Molecular diagnosis of neurofibromatosis type 1: 2 years experience.
|
16944272 |
2007 |
rs1057518904
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
|
16380919 |
2005 |
rs1057518904
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1.
|
10607834 |
2000 |
rs1057518904
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
|
10712197 |
2000 |
rs1057518904
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Characterisation of inherited and sporadic mutations in neurofibromatosis type-1.
|
7981679 |
1994 |
rs1060500242
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Preimplantation genetic diagnosis for hereditary cancer syndrome: local experience.
|
27305697 |
2016 |
rs1060500242
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Neurofibromatosis type 1 molecular diagnosis: what can NGS do for you when you have a large gene with loss of function mutations?
|
25074460 |
2015 |
rs1060500296
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
An histologically atypical NF-type 1 patient with a new pathogenic mutation.
|
22222937 |
2012 |
rs1060500296
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
|
15146469 |
2004 |
rs1060500376
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas.
|
23583981 |
2013 |
rs1060500376
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.
|
16380919 |
2005 |
rs1060500376
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
|
15146469 |
2004 |
rs1060500387
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1085307459
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders.
|
9180088 |
1997 |
rs1085307461
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1131691066
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
|
18546366 |
2008 |
rs1131691066
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.
|
10712197 |
2000 |
rs1131691067
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience.
|
23913538 |
2013 |
rs1131691067
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
A highly sensitive genetic protocol to detect NF1 mutations.
|
21354044 |
2011 |
rs1131691067
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations.
|
11115850 |
2000 |