A: The variant NC_000022.11:g.50721881dup in gene SHANK3 is classified as 'Pathogenic' for Phelan-McDermid_syndrome|Schizophrenia_15. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0011652,MedGen:C1853490,OMIM:606232,Orphanet:48652|MONDO:MONDO:0013498,MedGen:C3151380,OMIM:613950. Review status: criteria provided, single submitter.