A: The variant NC_000020.11:g.3214047del in gene ITPA is classified as 'Pathogenic' for Inosine_triphosphatase_deficiency. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0013461,MedGen:C0342800,OMIM:613850. Review status: criteria provided, single submitter.