C0268542[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 516756	NM_000531.6(OTC):c.-366A>G	OTC	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 97157	NM_000531.6(OTC):c.29_32del (p.Asn10fs)	OTC (N10fs)	Deletion (frameshift variant)	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 11013	NM_000531.6(OTC):c.118C>T (p.Arg40Cys)	OTC (R40C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 161330	NM_000531.6(OTC):c.385C>T (p.Arg129Cys)	OTC (R129C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 10987	NM_000531.6(OTC):c.422G>A (p.Arg141Gln)	OTC (R141Q)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic
Select item 426470	NM_000531.6(OTC):c.520G>A (p.Ala174Thr)	OTC (A174T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 97260	NM_000531.6(OTC):c.589G>A (p.Gly197Arg)	OTC (G197R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 129867	NM_000531.6(OTC):c.809A>G (p.Gln270Arg)	OTC (Q270R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 368261	NM_000531.6(OTC):c.*105C>T	OTC	Single nucleotide variant (3 prime UTR variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance

ClinVar