A: The variant NC_000019.10:g.48806678_48806689del in gene BCAT2 is classified as 'Pathogenic' for Hypervalinemia_and_hyperleucine-isoleucinemia. Molecular consequence: SO:0001627: intron_variant,SO:0001822: inframe_deletion. Variant type: Deletion. Disease database links: MONDO:MONDO:0100058,MedGen:C5394277,OMIM:618850. Review status: no assertion criteria provided.