"Ambry Genetics"[submitter] AND "ARG1"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2483911	NM_000045.4(ARG1):c.119T>C (p.Leu40Pro)	ARG1, MED23 (L40P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2146015	NM_000045.4(ARG1):c.237G>C (p.Gln79His)	ARG1, MED23 (Q79H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1035150	NM_000045.4(ARG1):c.266A>C (p.Lys89Thr)	ARG1, MED23 (K97T +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency +2 more	GUncertain significance
Select item 2277988	NM_000045.4(ARG1):c.270C>A (p.Asn90Lys)	ARG1, MED23 (N90K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 579897	NM_000045.4(ARG1):c.308T>C (p.Leu103Ser)	ARG1, MED23 (L103S +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency +1 more	GUncertain significance
Select item 1443427	NM_000045.4(ARG1):c.322A>G (p.Ile108Val)	ARG1, MED23 (I108V +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency +1 more	GUncertain significance
Select item 3128433	NM_000045.4(ARG1):c.520A>G (p.Ile174Val)	ARG1, MED23 (I174V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1023425	NM_000045.4(ARG1):c.862G>A (p.Glu288Lys)	ARG1, MED23 (E203K +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3310531	NM_000045.4(ARG1):c.889G>A (p.Val297Ile)	ARG1, MED23 (V305I +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1047072	NM_000045.4(ARG1):c.926A>G (p.Glu309Gly)	ARG1, MED23 (E224G +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency +2 more	GUncertain significance
Select item 1438236	NM_000045.4(ARG1):c.943A>G (p.Ile315Val)	ARG1, MED23 (I230V +2 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency +1 more	GUncertain significance