A: The variant NC_000020.11:g.49017495G>A in gene ARFGEF2 is classified as 'Likely_pathogenic' for Periventricular_laminar_heterotopia. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0032389,MedGen:C2678104. Review status: no assertion criteria provided.