A: The variant NC_000022.11:g.50529613dup in gene TYMP is classified as 'Pathogenic' for Mitochondrial_DNA_depletion_syndrome_1. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0011283,MedGen:C4551995,OMIM:603041,Orphanet:298. Review status: no assertion criteria provided.