A: The variant NC_000020.11:g.10673515_10673544del in gene JAG1 is classified as 'Pathogenic' for not_provided. Molecular consequence: SO:0001582: initiator_codon_variant,SO:0001822: inframe_deletion. Variant type: Deletion. Disease database links: MedGen:CN517202. Review status: criteria provided, single submitter.