A: The variant NC_000019.10:g.49596400_49596406dup in gene PRR12 is classified as 'Likely_pathogenic' for Neuroocular_syndrome_1. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0971007,MedGen:C5925133,OMIM:619539,Orphanet:659904. Review status: criteria provided, single submitter.