A: The variant NC_000019.10:g.18162974G>A in gene PIK3R2 is classified as 'Pathogenic' for Inborn_genetic_diseases|PIK3R2-related_disorder|Overgrowth_syndrome_and/or_cerebral_malformations_due_to_abnormalities_in_MTOR_pathway_genes|Intellectual_disability|Seizure|not_provided|Megalencephaly-capillary_malformation-polymicrogyria_syndrome|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_1. Molecular consequence: SO:0001583: missense_variant,SO:0001619: non-coding_transcript_variant. Variant type: single_nucleotide_variant. Disease database links: MeSH:D030342,MedGen:C0950123|.|MONDO:MONDO:0100283,MedGen:CN300503|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:0001250,Human_Phenotype_Ontology:HP:0001275,Human_Phenotype_Ontology:HP:0001303,Human_Phenotype_Ontology:HP:0002125,Human_Phenotype_Ontology:HP:0002182,Human_Phenotype_Ontology:HP:0002279,Human_Phenotype_Ontology:HP:0002306,Human_Phenotype_Ontology:HP:0002348,Human_Phenotype_Ontology:HP:0002391,Human_Phenotype_Ontology:HP:0002417,Human_Phenotype_Ontology:HP:0002430,Human_Phenotype_Ontology:HP:0002431,Human_Phenotype_Ontology:HP:0002432,Human_Phenotype_Ontology:HP:0002434,Human_Phenotype_Ontology:HP:0002437,Human_Phenotype_Ontology:HP:0002466,Human_Phenotype_Ontology:HP:0002479,Human_Phenotype_Ontology:HP:0002794,Human_Phenotype_Ontology:HP:0006997,Human_Phenotype_Ontology:HP:0010520,MedGen:C0036572|MedGen:C3661900|MONDO:MONDO:0011240,MedGen:C1865285,OMIM:602501,Orphanet:60040|MONDO:MONDO:0011313,MedGen:C4012727,OMIM:603387,Orphanet:83473. Review status: reviewed by expert panel.