"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ARG1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 355316	NM_000045.4(ARG1):c.-21A>C	ARG1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2395	NM_000045.4(ARG1):c.57+1G>A	ARG1	Single nucleotide variant (splice donor variant)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 2397	NM_000045.4(ARG1):c.61C>T (p.Arg21Ter)	ARG1, MED23 (R21*)	Single nucleotide variant (nonsense +1 more)	Arginase deficiency +2 more	GPathogenic
Select item 553898	NM_000045.4(ARG1):c.372dup (p.Ala125fs)	ARG1, MED23 (A125fs +1 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 632472	NM_000045.4(ARG1):c.383A>G (p.Asp128Gly)	ARG1, MED23 (D128G +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 697430	NM_000045.4(ARG1):c.474T>C (p.Asp158=)	ARG1, MED23	Single nucleotide variant (synonymous variant +2 more)	Arginase deficiency	GLikely benign
Select item 1523618	NM_000045.4(ARG1):c.665+2T>C	ARG1, MED23	Single nucleotide variant (splice donor variant +1 more)	Arginase deficiency	GLikely pathogenic

ClinVar