A: The variant NC_000021.9:g.43066320_43066323dup in gene CBS is classified as 'Pathogenic/Likely_pathogenic' for HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED|Homocystinuria|Classic_homocystinuria. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MedGen:C3150344|Human_Phenotype_Ontology:HP:0002156,MONDO:MONDO:0004737,MedGen:C0019880|MONDO:MONDO:0009352,MedGen:C0751202,OMIM:236200,Orphanet:394. Review status: criteria provided, multiple submitters, no conflicts.