A: The variant NC_000021.9:g.43060495_43060503dup in gene CBS is classified as 'Uncertain_significance' for HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED. Molecular consequence: SO:0001821: inframe_insertion. Variant type: Duplication. Disease database links: MedGen:C3150344. Review status: criteria provided, single submitter.