A: The variant NC_000019.10:g.49599552_49599571del in gene PRR12 is classified as 'Likely_pathogenic' for Neuroocular_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0859193,MedGen:C5551362,OMIM:PS619539. Review status: criteria provided, single submitter.