A: The variant NC_000021.9:g.43065212G>A in gene CBS is classified as 'Pathogenic' for HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED|Classic_homocystinuria. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3150344|MONDO:MONDO:0009352,MedGen:C0751202,OMIM:236200,Orphanet:394. Review status: criteria provided, multiple submitters, no conflicts.