A: The variant NC_000020.11:g.18142283C>T in gene KAT14 is classified as 'Likely_pathogenic' for Mitochondrial_complex_4_deficiency,_nuclear_type_19. Molecular consequence: SO:0001587: nonsense,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0033654,MedGen:C5436723,OMIM:619063. Review status: criteria provided, single submitter.