A: The variant NC_000022.11:g.27796799C>A in gene MN1 is classified as 'Likely_pathogenic' for CEBALID_syndrome|MN1_C-terminal_truncation_(MCTT)_syndrome. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0032908,MedGen:C5394044,OMIM:618774|.. Review status: criteria provided, single submitter.