A: The variant NC_000021.9:g.43066327_43066336del in gene CBS is classified as 'Likely_pathogenic' for Abnormality_of_metabolism/homeostasis. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: Human_Phenotype_Ontology:HP:0001939,Human_Phenotype_Ontology:HP:0002146,MedGen:C4021768. Review status: criteria provided, single submitter.