A: The variant NC_000021.9:g.43065691G>C in gene CBS is classified as 'Pathogenic' for HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED|Homocystinuria. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3150344|Human_Phenotype_Ontology:HP:0002156,MONDO:MONDO:0004737,MedGen:C0019880. Review status: criteria provided, multiple submitters, no conflicts.