A: The variant NC_000022.11:g.18936250dup in gene PRODH is classified as 'Pathogenic' for Proline_dehydrogenase_deficiency. Molecular consequence: SO:0001589: frameshift_variant,SO:0001623: 5_prime_UTR_variant,SO:0001627: intron_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0009400,MedGen:C0268529,OMIM:239500,Orphanet:419. Review status: criteria provided, single submitter.