"Fulgent Genetics, Fulgent Genetics"[submitter] AND "FTCD"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128815	NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr)	COL6A2, FTCD (A994T)	Single nucleotide variant (missense variant)	not provided +6 more	GBenign/Likely benign
Select item 1678565	NM_206965.2(FTCD):c.1103C>T (p.Ala368Val)	FTCD (A368V)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 632385	NM_206965.2(FTCD):c.763C>T (p.Arg255Ter)	FTCD (R255*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 1516881	NM_206965.2(FTCD):c.593G>A (p.Arg198His)	FTCD (R198H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 962892	NM_206965.2(FTCD):c.530G>A (p.Gly177Glu)	FTCD, FTCD-AS1 (G177E)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 665719	NM_206965.2(FTCD):c.319T>C (p.Cys107Arg)	FTCD (C107R)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency +1 more	GUncertain significance
Select item 195268	NM_206965.2(FTCD):c.236A>C (p.Gln79Pro)	FTCD (Q79P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

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