A: The variant NC_000021.9:g.32657766C>T in gene SYNJ1 is classified as 'Pathogenic' for Developmental_and_epileptic_encephalopathy,_53. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0033362,MedGen:C4479313,OMIM:617389. Review status: no assertion criteria provided.