A: The variant NC_000019.10:g.41422258dup in gene BCKDHA is classified as 'Pathogenic' for not_provided|Maple_syrup_urine_disease. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MedGen:C3661900|MONDO:MONDO:0009563,MeSH:D008375,MedGen:C0024776,OMIM:PS248600,Orphanet:511. Review status: criteria provided, multiple submitters, no conflicts.