C0268543[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2044573	NM_153006.3(NAGS):c.386C>G (p.Thr129Ser)	NAGS (T129S)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 2432040	NM_153006.3(NAGS):c.458del (p.Gly153fs)	NAGS (G153fs)	Deletion (frameshift variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 2432032	NM_153006.3(NAGS):c.702-1G>C	NAGS	Single nucleotide variant (splice acceptor variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 2432020	NM_153006.3(NAGS):c.872T>A (p.Ile291Asn)	NAGS (I291N)	Single nucleotide variant (missense variant)	Hyperammonemia, type III +1 more	GConflicting classifications of pathogenicity
Select item 623195	NM_153006.3(NAGS):c.1268+2T>C	NAGS	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 957890	NM_153006.3(NAGS):c.1292C>T (p.Thr431Ile)	NAGS (T431I)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GPathogenic/Likely pathogenic
Select item 2138048	NM_153006.3(NAGS):c.1552G>A (p.Ala518Thr)	NAGS (A518T)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GConflicting classifications of pathogenicity
Select item 1420702	NM_153006.3(NAGS):c.1593C>G (p.Asp531Glu)	NAGS (D531E)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance

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