A: The variant NC_000021.9:g.43062397T>C in gene CBS is classified as 'Likely_pathogenic' for Homocystinuria. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0002156,MONDO:MONDO:0004737,MedGen:C0019880. Review status: criteria provided, single submitter.