A: The variant NC_000021.9:g.43774280GA[2] in gene CSTB is classified as 'Pathogenic/Likely_pathogenic' for not_provided|Inborn_genetic_diseases|Progressive_myoclonic_epilepsy|Unverricht-Lundborg_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MedGen:C3661900|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261|MONDO:MONDO:0009698,MedGen:C0751785,OMIM:254800,Orphanet:308. Review status: criteria provided, multiple submitters, no conflicts.