A: The variant NC_000019.10:g.41397243del in gene EXOSC5 is classified as 'Pathogenic' for Cerebellar_ataxia,_brain_abnormalities,_and_cardiac_conduction_defects. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0859200,MedGen:C5562005,OMIM:619576,Orphanet:641361. Review status: no assertion criteria provided.