A: The variant NC_000019.10:g.54180947_54180957dup in gene MBOAT7 is classified as 'Pathogenic/Likely_pathogenic' for Intellectual_disability,_autosomal_recessive_57. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014962,MedGen:C4310673,OMIM:617188. Review status: criteria provided, multiple submitters, no conflicts.