A: The variant NC_000021.9:g.43065250del in gene CBS is classified as 'Pathogenic/Likely_pathogenic' for not_provided|HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED|Classic_homocystinuria|Homocystinuria. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:C3661900|MedGen:C3150344|MONDO:MONDO:0009352,MedGen:C0751202,OMIM:236200,Orphanet:394|Human_Phenotype_Ontology:HP:0002156,MONDO:MONDO:0004737,MedGen:C0019880. Review status: criteria provided, multiple submitters, no conflicts.