A: The variant NC_000022.11:g.20858723C>T in gene PI4KA is classified as 'Uncertain_significance' for Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis|Spastic_paraplegia_84,_autosomal_recessive. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014679,MedGen:C4225295,OMIM:616531|MONDO:MONDO:0030482,MedGen:C5562025,OMIM:619621,Orphanet:631079. Review status: criteria provided, single submitter.