A: The variant NC_000021.9:g.43065670_43065691del in gene CBS is classified as 'Pathogenic' for HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:C3150344. Review status: criteria provided, single submitter.