A: The variant NC_000019.10:g.34450309_34450310del in gene UBA2 is classified as 'Pathogenic' for Inborn_genetic_diseases|ACCES_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0859262,MedGen:C5677019,OMIM:619959. Review status: criteria provided, single submitter.