A: The variant NC_000020.11:g.48969149_48969154del in gene ARFGEF2 is classified as 'Uncertain_significance' for not_specified|not_provided|Periventricular_heterotopia_with_microcephaly,_autosomal_recessive. Variant type: Deletion. Disease database links: MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0011966,MedGen:C1842563,OMIM:608097,Orphanet:2149. Review status: criteria provided, multiple submitters, no conflicts.