A: The variant NC_000021.9:g.43059248CCT[2] in gene CBS is classified as 'Uncertain_significance' for Familial_thoracic_aortic_aneurysm_and_aortic_dissection|Homocystinuria. Molecular consequence: SO:0001822: inframe_deletion. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0019625,MedGen:C4707243,OMIM:PS607086,Orphanet:91387|Human_Phenotype_Ontology:HP:0002156,MONDO:MONDO:0004737,MedGen:C0019880. Review status: criteria provided, multiple submitters, no conflicts.