A: The variant NC_000020.11:g.3214674_3216579del in gene ITPA is classified as 'Pathogenic' for Developmental_and_epileptic_encephalopathy,_35. Molecular consequence: SO:0001574: splice_acceptor_variant,SO:0001575: splice_donor_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014719,MedGen:C4225256,OMIM:616647,Orphanet:457375. Review status: no assertion criteria provided.