A: The variant NC_000021.9:g.46154176G>A in gene FTCD is classified as 'Pathogenic/Likely_pathogenic' for FTCD-related_disorder|not_provided|Glutamate_formiminotransferase_deficiency. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: .|MedGen:C3661900|MONDO:MONDO:0009240,MedGen:C0268609,OMIM:229100,Orphanet:51208. Review status: criteria provided, multiple submitters, no conflicts.