A: The variant NC_000022.11:g.20727304A>C in gene PI4KA is classified as 'Pathogenic' for Gastrointestinal_defects_and_immunodeficiency_syndrome_2. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0030669,MedGen:C5676901,OMIM:619708. Review status: no assertion criteria provided.