Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs866445127
rs866445127
NF1
T 0.710 CausalMutation CLINVAR Neurofibromatosis type 1: a single center's experience in Korea. 25324867

2014
dbSNP: rs866445127
rs866445127
NF1
T 0.710 CausalMutation CLINVAR Neurofibromatosis-1 gene deletions and mutations in de novo adult acute myeloid leukemia. 23460398

2013
dbSNP: rs866445127
rs866445127
NF1
0.710 GeneticVariation BEFREE We report the case of a 14-year-old boy with neurofibromatosis type 1 with Noonan-like features, who complained of headache with triventricular hydrocephaly and a heterozygous NF1 point mutation c.7549C>T in exon 51. 22965773

2012
dbSNP: rs866445127
rs866445127
NF1
T 0.710 CausalMutation CLINVAR A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype. 22965773

2012
dbSNP: rs866445127
rs866445127
NF1
T 0.710 CausalMutation CLINVAR Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1. 16835897

2006
dbSNP: rs866445127
rs866445127
NF1
T 0.710 CausalMutation 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: rs866445127
rs866445127
NF1
T 0.710 CausalMutation CLINVAR Nf1 and Gmcsf interact in myeloid leukemogenesis. 10678181

2000
dbSNP: rs866445127
rs866445127
NF1
T 0.710 CausalMutation CLINVAR Characterisation of inherited and sporadic mutations in neurofibromatosis type-1. 7981679

1994