A: The variant NC_000022.11:g.24522029_24522030dup in gene UPB1 is classified as 'Pathogenic' for Deficiency_of_beta-ureidopropionase. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0013164,MedGen:C1291512,OMIM:613161,Orphanet:65287. Review status: no assertion criteria provided.