A: The variant NC_000021.9:g.46145928dup in gene FTCD is classified as 'Pathogenic/Likely_pathogenic' for not_provided|FTCD-related_disorder|Inborn_genetic_diseases|Glutamate_formiminotransferase_deficiency. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MedGen:C3661900|.|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:0009240,MedGen:C0268609,OMIM:229100,Orphanet:51208. Review status: criteria provided, multiple submitters, no conflicts.