A: The variant NC_000019.10:g.34433390dup in gene UBA2 is classified as 'Pathogenic' for ACCES_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0859262,MedGen:C5677019,OMIM:619959. Review status: criteria provided, single submitter.