"Fulgent Genetics, Fulgent Genetics"[submitter] AND "NAGS"[gene] - ClinVar

Format

Sort by

Choose Destination

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 156438	NM_153006.3(NAGS):c.505A>T (p.Met169Leu)	NAGS (M169L)	Single nucleotide variant (missense variant)	Hyperammonemia, type III	GLikely benign
Select item 1069900	NM_153006.3(NAGS):c.739C>T (p.Gln247Ter)	NAGS (Q247*)	Single nucleotide variant (nonsense)	Hyperammonemia, type III	GPathogenic/Likely pathogenic
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

Format

Sort by

Choose Destination

ClinVar