A: The variant NC_000021.9:g.43774760C>G in gene CSTB is classified as 'Pathogenic' for Dyskinesia|Chorea|Microcephaly|Encephalopathy|Cerebral_dysmyelination|Inborn_genetic_diseases|Unverricht-Lundborg_syndrome|Progressive_myoclonic_epilepsy|not_provided. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0100660,MedGen:C0013384|Human_Phenotype_Ontology:HP:0002072,Human_Phenotype_Ontology:HP:0002397,MONDO:MONDO:0001595,MedGen:C0008489,Orphanet:1429|Human_Phenotype_Ontology:HP:0000252,Human_Phenotype_Ontology:HP:0001366,Human_Phenotype_Ontology:HP:0005485,Human_Phenotype_Ontology:HP:0005489,Human_Phenotype_Ontology:HP:0005497,MONDO:MONDO:0001149,MedGen:C4551563|Human_Phenotype_Ontology:HP:0001298,MedGen:C0085584|Human_Phenotype_Ontology:HP:0007134,Human_Phenotype_Ontology:HP:0007217,Human_Phenotype_Ontology:HP:0007266,MedGen:C1854885|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009698,MedGen:C0751785,OMIM:254800,Orphanet:308|MONDO:MONDO:0020074,MedGen:C0751778,OMIM:PS254800,Orphanet:308,Orphanet:98261|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.