A: The variant NC_000020.11:g.51788997del in gene SALL4 is classified as 'Pathogenic' for Oculootoradial_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0007836,MedGen:C1327918,OMIM:147750,Orphanet:2307. Review status: no assertion criteria provided.