A: The variant NC_000021.9:g.32666564del in gene SYNJ1 is classified as 'Pathogenic' for Developmental_and_epileptic_encephalopathy,_53|Inborn_genetic_diseases. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, single submitter.