A: The variant NC_000019.10:g.54180903G>A in gene MBOAT7 is classified as 'Pathogenic' for Intellectual_disability,_autosomal_recessive_57. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014962,MedGen:C4310673,OMIM:617188. Review status: no assertion criteria provided.