C0268543[trait identifier] AND "Caldovic Lab, Children's National Heal - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184141	NC_000017.11:g.44001566C>T	NAGS, PYY	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1177297	NC_000017.11:g.44001599A>T	NAGS, PYY	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely pathogenic
Select item 1177298	NM_153006.3(NAGS):c.427-222G>A	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III +1 more	GConflicting classifications of pathogenicity
Select item 1177299	NM_153006.3(NAGS):c.427-218A>G	NAGS	Single nucleotide variant (intron variant)	Hyperammonemia, type III	GLikely pathogenic

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