To further elucidate the relationship between KIF1A genotype and phenotype, we evaluated the locations of the ALS-related RDVs discovered in our study and pathogenetic variants related with other phenotypes (SPG30, HSAN2, and MRD9) that have been reported in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) (Fig. 1). Here, KIF1A is linked to amyotrophic lateral sclerosis.