A: The variant NC_000021.9:g.43072142G>A in gene CBS is classified as 'Benign/Likely_benign' for not_provided|Familial_thoracic_aortic_aneurysm_and_aortic_dissection|HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED|not_specified|Classic_homocystinuria. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|MedGen:C3150344|MedGen:CN169374|MONDO:MONDO:0009352,MedGen:C0751202,OMIM:236200,Orphanet:394. Review status: criteria provided, multiple submitters, no conflicts.