A: The variant NC_000022.11:g.50722208G>A in gene SHANK3 is classified as 'Conflicting_classifications_of_pathogenicity' for not_provided|Phelan-McDermid_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0011652,MedGen:C1853490,OMIM:606232,Orphanet:48652. Review status: criteria provided, conflicting classifications.