A: The variant NC_000021.9:g.43071979_43071988del in gene CBS is classified as 'Likely_pathogenic' for HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED. Molecular consequence: SO:0001575: splice_donor_variant. Variant type: Deletion. Disease database links: MedGen:C3150344. Review status: criteria provided, single submitter.