A: The variant NC_000022.11:g.27799840del in gene MN1 is classified as 'Uncertain_significance' for CEBALID_syndrome. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0032908,MedGen:C5394044,OMIM:618774. Review status: criteria provided, single submitter.