A: The variant NC_000020.11:g.48951384G>A in gene ARFGEF2 is classified as 'Uncertain_significance' for not_provided|Microcephaly|Periventricular_heterotopia_with_microcephaly,_autosomal_recessive. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|MONDO:MONDO:0011966,MedGen:C1842563,OMIM:608097,Orphanet:2149. Review status: criteria provided, multiple submitters, no conflicts.