A: The variant NC_000022.11:g.20799245G>A in gene PI4KA is classified as 'Likely_pathogenic' for Phenylketonuria|Spastic_paraplegia_84,_autosomal_recessive|PI4KA-related_disorder|Polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis|Gastrointestinal_defects_and_immunodeficiency_syndrome_2. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009861,MedGen:C0031485,OMIM:261600,Orphanet:716|MONDO:MONDO:0030482,MedGen:C5562025,OMIM:619621,Orphanet:631079|MONDO:MONDO:1040012,MedGen:CN378147|MONDO:MONDO:0014679,MedGen:C4225295,OMIM:616531|MONDO:MONDO:0030669,MedGen:C5676901,OMIM:619708. Review status: criteria provided, multiple submitters, no conflicts.