A: The variant NC_000019.10:g.34428477GGCCGGG[1] in gene UBA2 is classified as 'Likely_pathogenic' for Inborn_genetic_diseases. Molecular consequence: SO:0001589: frameshift_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Microsatellite. Disease database links: MeSH:D030342,MedGen:C0950123. Review status: criteria provided, single submitter.