A: The variant NC_000021.9:g.43774668T>C in gene CSTB is classified as 'Uncertain_significance' for Progressive_myoclonic_epilepsy|Unverricht-Lundborg_syndrome|not_provided|Inborn_genetic_diseases. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261|MONDO:MONDO:0009698,MedGen:C0751785,OMIM:254800,Orphanet:308|MedGen:C3661900|MeSH:D030342,MedGen:C0950123. Review status: criteria provided, multiple submitters, no conflicts.