A: The variant NC_000019.10:g.49597608del in gene PRR12 is classified as 'Pathogenic' for Neuroocular_syndrome_1|not_provided|Neuroocular_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0971007,MedGen:C5925133,OMIM:619539,Orphanet:659904|MedGen:C3661900|MONDO:MONDO:0859193,MedGen:C5551362,OMIM:PS619539. Review status: criteria provided, multiple submitters, no conflicts.