A: The variant NC_000022.11:g.27751000_27751009dup in gene MN1 is classified as 'Pathogenic/Likely_pathogenic' for CEBALID_syndrome|MN1_C-terminal_truncation_(MCTT)_syndrome. Molecular consequence: SO:0001587: nonsense. Variant type: Duplication. Disease database links: MONDO:MONDO:0032908,MedGen:C5394044,OMIM:618774|.. Review status: no assertion criteria provided.