A: The variant NC_000022.11:g.20734538C>T in gene PI4KA is classified as 'Uncertain_significance' 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: criteria provided, single submitter.