A: The variant NC_000020.11:g.765704C>T in gene SLC52A3 is classified as 'Pathogenic' for not_provided|Progressive_bulbar_palsy_of_childhood. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500. Review status: criteria provided, single submitter.