A: The variant NC_000020.11:g.48976075C>T in gene ARFGEF2 is classified as 'Uncertain_significance' for Periventricular_heterotopia_with_microcephaly,_autosomal_recessive. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0011966,MedGen:C1842563,OMIM:608097,Orphanet:2149. Review status: criteria provided, single submitter.