Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474747
rs199474747
NF1
G 0.800 CausalMutation CLINVAR Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848. 29290338

2018
dbSNP: rs199474747
rs199474747
NF1
G 0.800 CausalMutation CLINVAR Hybridization Capture-Based Next-Generation Sequencing to Evaluate Coding Sequence and Deep Intronic Mutations in the NF1 Gene. 27999334

2016
dbSNP: rs199474747
rs199474747
NF1
G 0.800 CausalMutation CLINVAR A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1. 26478990

2015
dbSNP: rs199474747
rs199474747
NF1
G 0.800 CausalMutation CLINVAR The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE. 24413922

2014
dbSNP: rs199474747
rs199474747
NF1
C 0.800 CausalMutation CLINVAR The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE. 24413922

2014
dbSNP: rs199474747
rs199474747
NF1
0.800 GeneticVariation UNIPROT The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE. 24413922

2014
dbSNP: rs199474747
rs199474747
NF1
G 0.800 CausalMutation CLINVAR The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study. 25325900

2014
dbSNP: rs199474747
rs199474747
NF1
0.800 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014
dbSNP: rs199474747
rs199474747
NF1
G 0.800 CausalMutation CLINVAR Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. 23668869

2013
dbSNP: rs199474747
rs199474747
NF1
0.800 GeneticVariation UNIPROT Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients. 23758643

2013
dbSNP: rs199474747
rs199474747
NF1
C 0.800 CausalMutation CLINVAR Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. 23668869

2013
dbSNP: rs199474747
rs199474747
NF1
0.800 GeneticVariation UNIPROT Clinico-pathological and biomolecular findings in Italian patients with multiple cutaneous neurofibromas. 21838856

2011
dbSNP: rs199474747
rs199474747
NF1
0.800 GeneticVariation UNIPROT American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 20065170

2010
dbSNP: rs199474747
rs199474747
NF1
0.800 GeneticVariation UNIPROT Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors. 17636453

2007
dbSNP: rs199474747
rs199474747
NF1
C 0.800 CausalMutation CLINVAR Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras. 16513807

2006
dbSNP: rs199474747
rs199474747
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: rs199474747
rs199474747
NF1
0.800 GeneticVariation UNIPROT Neurofibromatous neuropathy in neurofibromatosis 1 (NF1). 15520408

2004
dbSNP: rs199474747
rs199474747
NF1
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs199474747
rs199474747
NF1
C 0.800 CausalMutation CLINVAR Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 15146469

2004
dbSNP: rs199474747
rs199474747
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: rs199474747
rs199474747
NF1
G 0.800 CausalMutation CLINVAR Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 15146469

2004
dbSNP: rs199474747
rs199474747
NF1
0.800 GeneticVariation UNIPROT Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 15146469

2004
dbSNP: rs199474747
rs199474747
NF1
0.800 GeneticVariation UNIPROT NF1 mutations and clinical spectrum in patients with spinal neurofibromas. 12746402

2003
dbSNP: rs199474747
rs199474747
NF1
0.800 GeneticVariation UNIPROT NF1 gene analysis based on DHPLC. 12552569

2003
dbSNP: rs199474747
rs199474747
NF1
C 0.800 CausalMutation CLINVAR NF1 gene analysis based on DHPLC. 12552569

2003