"Genome-Nilou Lab"[submitter] AND "OAT"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 157	NM_000274.4(OAT):c.1250C>T (p.Pro417Leu)	OAT (P417L +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GPathogenic
Select item 683257	NM_000274.4(OAT):c.1160-59C>T	OAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 161	NM_000274.4(OAT):c.1134C>T (p.Asn378=)	OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency +1 more	GBenign
Select item 672118	NM_000274.4(OAT):c.901-22T>C	OAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1210446	NM_000274.4(OAT):c.799A>G (p.Thr267Ala)	OAT (T129A +3 more)	Single nucleotide variant (missense variant)	Ornithine aminotransferase deficiency	GUncertain significance
Select item 167396	NM_000274.4(OAT):c.648+14A>G	OAT	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1169204	NM_000274.4(OAT):c.199+19C>T	OAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

ClinVar