A: The variant NC_000021.9:g.43774690G>A in gene CSTB is classified as 'Pathogenic/Likely_pathogenic' for Unverricht-Lundborg_syndrome|Progressive_myoclonic_epilepsy|not_provided|Inborn_genetic_diseases. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009698,MedGen:C0751785,OMIM:254800,Orphanet:308|MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261|MedGen:C3661900|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, multiple submitters, no conflicts.