Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199474738
rs199474738
NF1
A 0.700 CausalMutation CLINVAR Neurofibromatosis type 1: a single center's experience in Korea. 25324867

2014
dbSNP: rs199474738
rs199474738
NF1
A 0.700 CausalMutation CLINVAR NF1 molecular characterization and neurofibromatosis type I genotype-phenotype correlation: the French experience. 23913538

2013
dbSNP: rs199474738
rs199474738
NF1
A 0.700 CausalMutation CLINVAR Integrative genomics reveals frequent somatic NF1 mutations in sporadic pheochromocytomas. 23010473

2012
dbSNP: rs199474738
rs199474738
NF1
A 0.700 CausalMutation CLINVAR Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. 18546366

2008
dbSNP: rs199474738
rs199474738
NF1
A 0.700 CausalMutation CLINVAR Pitfalls of automated comparative sequence analysis as a single platform for routine clinical testing for NF1. 15863657

2005
dbSNP: rs199474738
rs199474738
NF1
A 0.700 CausalMutation CLINVAR Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. 15146469

2004
dbSNP: rs199474738
rs199474738
NF1
A 0.700 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: rs199474738
rs199474738
NF1
A 0.700 CausalMutation CLINVAR Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. 12807981

2003