A: The variant NC_000019.10:g.43526520dup in gene ETHE1 is classified as 'Pathogenic' for not_provided|Ethylmalonic_encephalopathy. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001587: nonsense,SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Duplication. Disease database links: MedGen:C3661900|MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:51188. Review status: criteria provided, multiple submitters, no conflicts.