A: The variant NC_000020.11:g.3215287G>A in gene ITPA is classified as 'Pathogenic/Likely_pathogenic' for Infantile_epileptic_dyskinetic_encephalopathy|Inosine_triphosphatase_deficiency. Molecular consequence: SO:0001587: nonsense,SO:0001619: non-coding_transcript_variant,SO:0001623: 5_prime_UTR_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0018226,MedGen:C4552072,Orphanet:364063|MONDO:MONDO:0013461,MedGen:C0342800,OMIM:613850. Review status: criteria provided, multiple submitters, no conflicts.