A: The variant NC_000019.10:g.34438643A>G in gene UBA2 is classified as 'Pathogenic' for ACCES_syndrome. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0859262,MedGen:C5677019,OMIM:619959. Review status: criteria provided, single submitter.