Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606606
rs267606606
NF1
C 0.700 CausalMutation CLINVAR A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. 23656349

2014
dbSNP: rs267606606
rs267606606
NF1
C 0.700 CausalMutation CLINVAR Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation. 23047742

2013
dbSNP: rs267606606
rs267606606
NF1
C 0.700 CausalMutation CLINVAR Neurofibromatosis without Neurofibromas: Confirmation of a Genotype-Phenotype Correlation and Implications for Genetic Testing. 21532985

2011
dbSNP: rs267606606
rs267606606
NF1
C 0.700 CausalMutation CLINVAR NF1 exon 22 analysis of individuals with the clinical diagnosis of neurofibromatosis type 1. 20602485

2010
dbSNP: rs267606606
rs267606606
NF1
C 0.700 CausalMutation CLINVAR An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. 17160901

2007
dbSNP: rs267606606
rs267606606
NF1
C 0.700 CausalMutation CLINVAR Neurofibromatosis type 1 (NF1): the search for mutations by PCR-heteroduplex analysis on Hydrolink gels. 7904209

1993