A: The variant NC_000022.11:g.50698763C>A in gene SHANK3 is classified as 'Likely_pathogenic' for Intellectual_disability|Abnormal_cerebral_white_matter_morphology|Hyperammonemia|Neurodegeneration. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0000730,Human_Phenotype_Ontology:HP:0001249,Human_Phenotype_Ontology:HP:0001267,Human_Phenotype_Ontology:HP:0001286,Human_Phenotype_Ontology:HP:0002122,Human_Phenotype_Ontology:HP:0002192,Human_Phenotype_Ontology:HP:0002316,Human_Phenotype_Ontology:HP:0002382,Human_Phenotype_Ontology:HP:0002386,Human_Phenotype_Ontology:HP:0002402,Human_Phenotype_Ontology:HP:0002458,Human_Phenotype_Ontology:HP:0002482,Human_Phenotype_Ontology:HP:0002499,Human_Phenotype_Ontology:HP:0002543,Human_Phenotype_Ontology:HP:0003767,Human_Phenotype_Ontology:HP:0006833,Human_Phenotype_Ontology:HP:0007154,Human_Phenotype_Ontology:HP:0007176,Human_Phenotype_Ontology:HP:0007180,MONDO:MONDO:0001071,MeSH:D008607,MedGen:C3714756|Human_Phenotype_Ontology:HP:0002500,Human_Phenotype_Ontology:HP:0200100,MedGen:C0948163|Human_Phenotype_Ontology:HP:0001987,Human_Phenotype_Ontology:HP:0008308,Human_Phenotype_Ontology:HP:0008334,MedGen:C5574662|Human_Phenotype_Ontology:HP:0002180,MONDO:MONDO:0005559,MedGen:C0027746. Review status: no assertion criteria provided.