A: The variant NC_000021.9:g.43073307dup in gene CBS is classified as 'Uncertain_significance' for Homocystinuria. Molecular consequence: SO:0001623: 5_prime_UTR_variant. Variant type: Duplication. Disease database links: Human_Phenotype_Ontology:HP:0002156,MONDO:MONDO:0004737,MedGen:C0019880. Review status: criteria provided, single submitter.