A: The variant NC_000019.10:g.49599551C>T in gene PRR12 is classified as 'Pathogenic' for not_provided|Neuroocular_syndrome. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0859193,MedGen:C5551362,OMIM:PS619539. Review status: criteria provided, multiple submitters, no conflicts.