A: The variant NC_000022.11:g.20712773C>T in gene PI4KA is classified as 'Uncertain_significance' for not_provided|Spastic_paraplegia_84,_autosomal_recessive|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis|Gastrointestinal_defects_and_immunodeficiency_syndrome_2. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0030482,MedGen:C5562025,OMIM:619621,Orphanet:631079|MONDO:MONDO:0014679,MedGen:C4225295,OMIM:616531|MONDO:MONDO:0030669,MedGen:C5676901,OMIM:619708. Review status: criteria provided, multiple submitters, no conflicts.