A: The variant NC_000021.9:g.43062344_43062345delinsAA in gene CBS is classified as 'Pathogenic' for not_provided|HYPERHOMOCYSTEINEMIA,_THROMBOTIC,_CBS-RELATED. Molecular consequence: SO:0001583: missense_variant. Variant type: Indel. Disease database links: MedGen:C3661900|MedGen:C3150344. Review status: criteria provided, multiple submitters, no conflicts.