A: The variant NC_000020.11:g.3218624del in gene ITPA is classified as 'Pathogenic/Likely_pathogenic' for Inosine_triphosphatase_deficiency|Inborn_genetic_diseases. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0013461,MedGen:C0342800,OMIM:613850|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, multiple submitters, no conflicts.