A: The variant NC_000021.9:g.43776242G>C in gene CSTB is classified as 'Uncertain_significance' for Inborn_genetic_diseases|Progressive_myoclonic_epilepsy. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261. Review status: criteria provided, multiple submitters, no conflicts.