A: The variant NC_000021.9:g.43774297G>A in gene CSTB is classified as 'Pathogenic' for Aplasia/Hypoplasia_of_the_corpus_callosum|Progressive_microcephaly|Dyskinesia|Motor_delay|Intellectual_disability,_severe|Severe_global_developmental_delay|Global_brain_atrophy|Dystonic_disorder|Self-limited_epilepsy_with_centrotemporal_spikes|Unverricht-Lundborg_syndrome|Progressive_myoclonic_epilepsy|not_provided. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0007003,Human_Phenotype_Ontology:HP:0007060,Human_Phenotype_Ontology:HP:0007061,Human_Phenotype_Ontology:HP:0007137,Human_Phenotype_Ontology:HP:0007370,MedGen:C1861866|Human_Phenotype_Ontology:HP:0000253,MedGen:C1850456|Human_Phenotype_Ontology:HP:0100660,MedGen:C0013384|Human_Phenotype_Ontology:HP:0001270,Human_Phenotype_Ontology:HP:0001307,Human_Phenotype_Ontology:HP:0002130,Human_Phenotype_Ontology:HP:0006788,Human_Phenotype_Ontology:HP:0006826,Human_Phenotype_Ontology:HP:0006909,Human_Phenotype_Ontology:HP:0006950,Human_Phenotype_Ontology:HP:0006968,Human_Phenotype_Ontology:HP:0007219,Human_Phenotype_Ontology:HP:0007251,MedGen:C1854301|Human_Phenotype_Ontology:HP:0007196,Human_Phenotype_Ontology:HP:0010864,MedGen:C0036857|Human_Phenotype_Ontology:HP:0011344,MedGen:C1837397|Human_Phenotype_Ontology:HP:0002283,Human_Phenotype_Ontology:HP:0002369,Human_Phenotype_Ontology:HP:0002462,MedGen:C0241816|Human_Phenotype_Ontology:HP:0001332,Human_Phenotype_Ontology:HP:0002328,MONDO:MONDO:0003441,MedGen:C0013421|MONDO:MONDO:0007295,MedGen:C0376532,Orphanet:1945|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.