A: The variant NC_000020.11:g.763932G>C in gene SLC52A3 is classified as 'Pathogenic' for Brown-Vialetto-van_Laere_syndrome_1|Inborn_genetic_diseases|Progressive_bulbar_palsy_of_childhood|not_provided. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0024537,MedGen:C0796274,OMIM:211530,Orphanet:572543,Orphanet:97229|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0100428,MedGen:C0015708,OMIM:211500|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.