Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474743
rs199474743
NF1
G 0.800 CausalMutation CLINVAR Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform. 27838393

2017
dbSNP: rs199474743
rs199474743
NF1
G 0.800 CausalMutation CLINVAR Development of a practical NF1 genetic testing method through the pilot analysis of five Japanese families with neurofibromatosis type 1. 25480383

2015
dbSNP: rs199474743
rs199474743
NF1
G 0.800 CausalMutation CLINVAR Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population. 26056819

2015
dbSNP: rs199474743
rs199474743
NF1
0.800 GeneticVariation UNIPROT The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE. 24413922

2014
dbSNP: rs199474743
rs199474743
NF1
0.800 GeneticVariation UNIPROT Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients. 23758643

2013
dbSNP: rs199474743
rs199474743
NF1
G 0.800 CausalMutation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
dbSNP: rs199474743
rs199474743
NF1
0.800 GeneticVariation UNIPROT Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas. 21838856

2011
dbSNP: rs199474743
rs199474743
NF1
G 0.800 CausalMutation CLINVAR Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. 15060124

2004
dbSNP: rs199474743
rs199474743
NF1
0.800 GeneticVariation UNIPROT Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 15146469

2004
dbSNP: rs199474743
rs199474743
NF1
0.800 GeneticVariation UNIPROT Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. 15060124

2004
dbSNP: rs199474743
rs199474743
NF1
0.800 GeneticVariation UNIPROT Disruption of exonic splicing enhancer elements is the principal cause of exon skipping associated with seven nonsense or missense alleles of NF1. 15523642

2004
dbSNP: rs199474743
rs199474743
NF1
0.800 GeneticVariation UNIPROT Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). 15520408

2004
dbSNP: rs199474743
rs199474743
NF1
0.800 GeneticVariation UNIPROT NF1 gene analysis based on DHPLC. 12552569

2003
dbSNP: rs199474743
rs199474743
NF1
0.800 GeneticVariation UNIPROT NF1 mutations and clinical spectrum in patients with spinal neurofibromas. 12746402

2003
dbSNP: rs199474743
rs199474743
NF1
0.800 GeneticVariation UNIPROT Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1. 10607834

2000
dbSNP: rs199474743
rs199474743
NF1
0.800 GeneticVariation UNIPROT Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1. 9668168

1998
dbSNP: rs199474743
rs199474743
NF1
0.800 GeneticVariation UNIPROT Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene. 9150739

1997
dbSNP: rs199474743
rs199474743
NF1
0.800 GeneticVariation UNIPROT Novel and recurrent mutations in the neurofibromatosis type 1 (NF1) gene. 9101300

1997
dbSNP: rs199474743
rs199474743
NF1
0.800 GeneticVariation UNIPROT Six novel mutations in the neurofibromatosis type 1 (NF1) gene. 9298829

1997
dbSNP: rs199474743
rs199474743
NF1
G 0.800 CausalMutation CLINVAR Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. 9003501

1997
dbSNP: rs199474743
rs199474743
NF1
0.800 GeneticVariation UNIPROT Mutational and functional analysis of the neurofibromatosis type 1 (NF1) gene. 9003501

1997
dbSNP: rs199474743
rs199474743
NF1
0.800 GeneticVariation UNIPROT Scanning the first part of the neurofibromatosis type 1 gene by RNA-SSCP: identification of three novel mutations and of two new polymorphisms. 8834249

1996
dbSNP: rs199474743
rs199474743
NF1
0.800 GeneticVariation UNIPROT Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene. 8081387

1994
dbSNP: rs199474743
rs199474743
NF1
0.800 GeneticVariation UNIPROT Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. 7981679

1994
dbSNP: rs199474743
rs199474743
NF1
0.800 GeneticVariation UNIPROT Analysis of mutations at the neurofibromatosis 1 (NF1) locus. 1302608

1992