A: The variant NC_000021.9:g.46132472G>A in gene FTCD is classified as 'Benign/Likely_benign' for Glutamate_formiminotransferase_deficiency|Myosclerosis|Bethlem_myopathy_1A|Ullrich_congenital_muscular_dystrophy_1A|not_specified|Collagen_6-related_myopathy|not_provided. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0009240,MedGen:C0268609,OMIM:229100,Orphanet:51208|MONDO:MONDO:0009714,MedGen:C1850671,OMIM:255600,Orphanet:289380|MONDO:MONDO:0024530,MedGen:CN029274,OMIM:158810,Orphanet:610|MONDO:MONDO:0009681,MedGen:C0410179,OMIM:254090,Orphanet:75840|MedGen:CN169374|MONDO:MONDO:0100225,MedGen:CN117976|MedGen:C3661900. Review status: criteria provided, multiple submitters, no conflicts.