A: The variant NC_000022.11:g.27799129G>T in gene MN1 is classified as 'Pathogenic' for CEBALID_syndrome|not_provided. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0032908,MedGen:C5394044,OMIM:618774|MedGen:C3661900. Review status: criteria provided, single submitter.