A: The variant NC_000021.9:g.43053824_43053826del in gene CBS is classified as 'Uncertain_significance' for Homocystinuria. Molecular consequence: SO:0001624: 3_prime_UTR_variant,SO:0001627: intron_variant. Variant type: Deletion. Disease database links: Human_Phenotype_Ontology:HP:0002156,MONDO:MONDO:0004737,MedGen:C0019880. Review status: criteria provided, single submitter.