A: The variant NC_000022.11:g.50731100C>T in gene SHANK3 is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Phelan-McDermid_syndrome|Autistic_behavior. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0011652,MedGen:C1853490,OMIM:606232,Orphanet:48652|Human_Phenotype_Ontology:HP:0000729,MedGen:C0856975. Review status: criteria provided, multiple submitters, no conflicts.