A: The variant NC_000021.9:g.43063045C>T in gene CBS is classified as 'Pathogenic/Likely_pathogenic' for Homocystinuria|Classic_homocystinuria|Familial_thoracic_aortic_aneurysm_and_aortic_dissection. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0002156,MONDO:MONDO:0004737,MedGen:C0019880|MONDO:MONDO:0009352,MedGen:C0751202,OMIM:236200,Orphanet:394|MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387. Review status: criteria provided, multiple submitters, no conflicts.