Highlights ■ This is the largest cohort of individuals with NF1 investigated through whole-genome sequencing. ■ Molecular data contributed to the representation of the  Brazilian population in genomic research. ■ Novel variants in the NF1 gene have been described, including c.3372del, c.7299del, and c.7457_7457+2del. ■ The first report of spinocerebellar ataxia type 19 in Brazil is also presented. ABSTRACT Objective: To describe clinical and molecular aspects of a cohort of Brazilian individuals with neurofibromatosis type 1, a neurocutaneous disorder associated […]