|
rs894292181
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas.
|
11857752 |
2002 |
|
rs886041347
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.
|
26969325 |
2016 |
|
rs886041347
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.
|
15146469 |
2004 |
|
rs886041347
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.
|
23668869 |
2013 |
|
rs886041347
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Double inactivation of NF1 in tibial pseudarthrosis.
|
16773574 |
2006 |
|
rs886041347
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A highly sensitive genetic protocol to detect NF1 mutations.
|
21354044 |
2011 |
|
rs878853922
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations.
|
18546366 |
2008 |
|
rs878853922
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Two independent mutations in a family with neurofibromatosis type 1 (NF1).
|
10076878 |
1999 |
|
rs878853922
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing.
|
24789688 |
2014 |
|
rs878853922
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1).
|
21280148 |
2011 |
|
rs878853922
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
rs878853883
|
|
Neoplastic Syndromes, Hereditary
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs878853865
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.
|
16479075 |
2006 |
|
rs878853865
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.
|
16835897 |
2006 |
|
rs878853865
|
|
Neoplastic Syndromes, Hereditary
|
T |
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 |
|
rs878853865
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Molecular diagnosis of neurofibromatosis type 1: 2 years experience.
|
16944272 |
2007 |
|
rs878853865
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
|
10862084 |
2000 |
|
rs878853865
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.
|
23668869 |
2013 |
|
rs876660931
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs876660931
|
|
Neoplastic Syndromes, Hereditary
|
GA |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs876660826
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.
|
16835897 |
2006 |
|
rs876660826
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Novel mutation of neurofibromatosis type 1 in a patient with cerebral vasculopathy and fatal ischemic stroke.
|
16414076 |
2006 |
|
rs876660782
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
rs876660696
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.
|
22155606 |
2011 |
|
rs876660696
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Immunohistochemical NF1 analysis does not predict NF1 gene mutation status in pheochromocytoma.
|
25403449 |
2015 |