A: The variant NC_000020.11:g.3213378C>T in gene ITPA is classified as 'Uncertain_significance' for Inborn_genetic_diseases|Inosine_triphosphatase_deficiency. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013461,MedGen:C0342800,OMIM:613850. Review status: criteria provided, multiple submitters, no conflicts.