A: The variant NC_000022.11:g.27750925G>T in gene MN1 is classified as 'Likely_pathogenic' for CEBALID_syndrome. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0032908,MedGen:C5394044,OMIM:618774. Review status: criteria provided, single submitter.