A: The variant NC_000019.10:g.43511481del in gene ETHE1 is classified as 'Likely_pathogenic' for Ethylmalonic_encephalopathy. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0011229,MedGen:C1865349,OMIM:602473,Orphanet:51188. Review status: criteria provided, single submitter.