A: The variant NC_000022.11:g.50526365dup in gene TYMP is classified as 'Pathogenic' for Mitochondrial_neurogastrointestinal_encephalomyopathy|not_provided. Molecular consequence: SO:0001589: frameshift_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0017575,MedGen:C0872218,Orphanet:298|MedGen:C3661900. Review status: criteria provided, single submitter.