A: The variant NC_000020.11:g.3213167A>G in gene ITPA is classified as 'Likely_pathogenic' for Inosine_triphosphatase_deficiency. Molecular consequence: SO:0001574: splice_acceptor_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0013461,MedGen:C0342800,OMIM:613850. Review status: criteria provided, single submitter.