A: The variant NC_000022.11:g.27796989G>T in gene MN1 is classified as 'Pathogenic' for CEBALID_syndrome. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0032908,MedGen:C5394044,OMIM:618774. Review status: no assertion criteria provided.