Gene: NF1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131691066
rs1131691066
NF1
A 0.700 GeneticVariation CLINVAR Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. 18546366

2008
dbSNP: rs1131691066
rs1131691066
NF1
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
dbSNP: rs1131691077
rs1131691077
NF1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1131691079
rs1131691079
NF1
A 0.700 GeneticVariation 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
dbSNP: rs1131691079
rs1131691079
NF1
G 0.700 GeneticVariation 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
dbSNP: rs1131691101
rs1131691101
NF1 ; MIR4733 ; LOC105371722
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1131691105
rs1131691105
NF1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1131691112
rs1131691112
NF1
C 0.700 GeneticVariation CLINVAR Constitutional NF1 mutations in neurofibromatosis 1 patients with malignant peripheral nerve sheath tumors. 14517963

2003
dbSNP: rs1131691112
rs1131691112
NF1
C 0.700 GeneticVariation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665

2014
dbSNP: rs1131691118
rs1131691118
NF1
A 0.700 GeneticVariation CLINVAR An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. 16825284

2006
dbSNP: rs1131691118
rs1131691118
NF1
A 0.700 GeneticVariation CLINVAR Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. 18546366

2008
dbSNP: rs1131691118
rs1131691118
NF1
A 0.700 GeneticVariation CLINVAR Listening to silence and understanding nonsense: exonic mutations that affect splicing. 11967553

2002
dbSNP: rs1131691118
rs1131691118
NF1
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
dbSNP: rs1131691123
rs1131691123
NF1
T 0.700 GeneticVariation CLINVAR 126 novel mutations in Italian patients with neurofibromatosis type 1. 26740943

2015
dbSNP: rs1131691123
rs1131691123
NF1
T 0.700 GeneticVariation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
dbSNP: rs1131691123
rs1131691123
NF1
T 0.700 GeneticVariation CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349

2014
dbSNP: rs1131691131
rs1131691131
NF1
T 0.700 GeneticVariation CLINVAR A targeted next-generation sequencing assay detects a high frequency of therapeutically targetable alterations in primary and metastatic breast cancers: implications for clinical practice. 24710307

2014
dbSNP: rs1135402857
rs1135402857
NF1
A 0.700 GeneticVariation CLINVAR Structural analysis of the GAP-related domain from neurofibromin and its implications. 9687500

1998
dbSNP: rs1135402857
rs1135402857
NF1
A 0.700 GeneticVariation CLINVAR No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients. 26969325

2016
dbSNP: rs1135402857
rs1135402857
NF1
A 0.700 GeneticVariation CLINVAR Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. 23047742

2013
dbSNP: rs1135402857
rs1135402857
NF1
A 0.700 GeneticVariation CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349

2014
dbSNP: rs1135402857
rs1135402857
NF1
A 0.700 GeneticVariation CLINVAR The Ras-RasGAP complex: structural basis for GTPase activation and its loss in oncogenic Ras mutants. 9219684

1997
dbSNP: rs1135402857
rs1135402857
NF1
A 0.700 GeneticVariation CLINVAR Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours. 19142971

2009
dbSNP: rs1135402857
rs1135402857
NF1
A 0.700 GeneticVariation CLINVAR Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis. 22155606

2011
dbSNP: rs1135402857
rs1135402857
NF1
A 0.700 GeneticVariation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013