A: The variant NC_000019.10:g.48955721dup in gene BAX is classified as 'Uncertain_significance' for Inborn_genetic_diseases|Carcinoma_of_colon. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001627: intron_variant. Variant type: Duplication. Disease database links: MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0002032,MedGen:C0699790. Review status: criteria provided, single submitter.