A: The variant NC_000022.11:g.41517636G>C in gene ACO2 is classified as 'Pathogenic' for Infantile_cerebellar-retinal_degeneration. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013802,MedGen:C3281192,OMIM:614559,Orphanet:313850. Review status: no assertion criteria provided.