A: The variant NC_000022.11:g.50721698C>T in gene SHANK3 is classified as 'Pathogenic' for Phelan-McDermid_syndrome|not_provided. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011652,MedGen:C1853490,OMIM:606232,Orphanet:48652|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.