A: The variant NC_000020.11:g.3223396del in gene ITPA is classified as 'Uncertain_significance' for Inosine_triphosphatase_deficiency|not_specified|ITPA-related_disorder. Molecular consequence: SO:0001589: frameshift_variant,SO:0001619: non-coding_transcript_variant,SO:0001627: intron_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0013461,MedGen:C0342800,OMIM:613850|MedGen:CN169374|.. Review status: criteria provided, multiple submitters, no conflicts.