A: The variant NC_000022.11:g.41511874_41511875inv in gene ACO2 is classified as 'Pathogenic' for Infantile_cerebellar-retinal_degeneration. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: Inversion. Disease database links: MONDO:MONDO:0013802,MedGen:C3281192,OMIM:614559,Orphanet:313850. Review status: no assertion criteria provided.