C0268543[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1209610	NM_153006.3(NAGS):c.696T>A (p.His232Gln)	NAGS (H232Q)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GUncertain significance
Select item 1184696	NM_153006.3(NAGS):c.916-57T>C	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III +1 more	GBenign
Select item 203863	NM_153006.3(NAGS):c.1086T>C (p.Phe362=)	NAGS	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 262687	NM_153006.3(NAGS):c.1096+20C>G	NAGS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 323450	NM_153006.3(NAGS):c.1302C>T (p.Pro434=)	NAGS	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 262688	NM_153006.3(NAGS):c.1451+9T>C	NAGS	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 262686	NM_153006.3(NAGS):c.*3C>T	NAGS	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign

ClinVar