"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 97237	NM_000531.6(OTC):c.533C>T (p.Thr178Met)	OTC (T178M)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GPathogenic
Select item 1297045	NM_000531.6(OTC):c.618G>A (p.Met206Ile)	OTC (M206I)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency	GPathogenic