A: The variant NC_000021.9:g.46145837_46145850del in gene FTCD is classified as 'Likely_pathogenic' for Glutamate_formiminotransferase_deficiency. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0009240,MedGen:C0268609,OMIM:229100,Orphanet:51208. Review status: criteria provided, single submitter.