A: The variant NC_000021.9:g.43774763G>C in gene CSTB is classified as 'Conflicting_classifications_of_pathogenicity' for Progressive_myoclonic_epilepsy|not_provided. Molecular consequence: SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261|MedGen:C3661900. Review status: criteria provided, conflicting classifications.