A: The variant NC_000021.9:g.43062311C>T in gene CBS is classified as 'Pathogenic/Likely_pathogenic' for HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED|Homocystinuria|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Classic_homocystinuria|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3150344|Human_Phenotype_Ontology:HP:0002156,MONDO:MONDO:0004737,MedGen:C0019880|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MONDO:MONDO:0009352,MedGen:C0751202,OMIM:236200,Orphanet:394|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.