Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864622639
rs864622639
NF1
C 0.700 CausalMutation CLINVAR Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. 25293717

2015
dbSNP: rs864622639
rs864622639
NF1
C 0.700 CausalMutation CLINVAR [Phenotypic and genetic features in neurofibromatosis type 1 in children]. 25541118

2015
dbSNP: rs864622639
rs864622639
NF1
C 0.700 CausalMutation CLINVAR Fifty-four novel mutations in the NF1 gene and integrated analyses of the mutations that modulate splicing. 24789688

2014
dbSNP: rs864622639
rs864622639
NF1
C 0.700 CausalMutation CLINVAR Nature and mRNA effect of 282 different NF1 point mutations: focus on splicing alterations. 18546366

2008
dbSNP: rs864622639
rs864622639
NF1
C 0.700 CausalMutation CLINVAR Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients. 12807981

2003
dbSNP: rs864622639
rs864622639
NF1
C 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
dbSNP: rs864622639
rs864622639
NF1
C 0.700 CausalMutation CLINVAR Two NF1 mutations: frameshift in the GAP-related domain, and loss of two codons toward the 3' end of the gene. 8081387

1994