A: The variant NC_000021.9:g.43071984C>T in gene CBS is classified as 'Pathogenic/Likely_pathogenic' for HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED|CBS-related_disorder|Homocystinuria|Classic_homocystinuria|not_provided. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3150344|.|Human_Phenotype_Ontology:HP:0002156,MONDO:MONDO:0004737,MedGen:C0019880|MONDO:MONDO:0009352,MedGen:C0751202,OMIM:236200,Orphanet:394|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.