C0268542[trait identifier] AND "Caldovic Lab, Children's National Heal - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 487480	NM_000531.5(OTC):c.-157T>G	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 487342	NC_000023.11:g.38352555G>A	OTC	Single nucleotide variant (intron variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 487341	NM_000531.5(OTC):c.-139A>G	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 487343	NM_000531.5(OTC):c.-116C>T	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 487344	NM_000531.5(OTC):c.-115C>T	OTC	Single nucleotide variant (genic upstream transcript variant)	Ornithine carbamoyltransferase deficiency	GLikely pathogenic
Select item 487338	NC_000023.11:g.38352591C>A	OTC	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic

ClinVar