ARGLU1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3034677	NM_018011.4(ARGLU1):c.822A>G (p.Ter274=)	ARGLU1	Single nucleotide variant (synonymous variant)	ARGLU1-related disorder	GLikely benign
Select item 2599388	NM_018011.4(ARGLU1):c.560A>G (p.Gln187Arg)	ARGLU1 (Q187R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052693	NM_018011.4(ARGLU1):c.556G>A (p.Ala186Thr)	ARGLU1 (A186T)	Single nucleotide variant (missense variant)	ARGLU1-related disorder	GBenign
Select item 2485111	NM_018011.4(ARGLU1):c.464G>A (p.Arg155Gln)	ARGLU1 (R155Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239878	NM_018011.4(ARGLU1):c.213C>G (p.Asp71Glu)	ARGLU1 (D71E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3128453	NM_018011.4(ARGLU1):c.194T>G (p.Val65Gly)	ARGLU1 (V65G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231615	NM_018011.4(ARGLU1):c.187A>C (p.Thr63Pro)	ARGLU1 (T63P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236520	NM_018011.4(ARGLU1):c.172T>G (p.Ser58Ala)	ARGLU1 (S58A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623050	NM_018011.4(ARGLU1):c.99C>G (p.Asp33Glu)	ARGLU1 (D33E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057406	NM_018011.4(ARGLU1):c.48G>A (p.Lys16=)	ARGLU1	Single nucleotide variant (synonymous variant)	ARGLU1-related disorder	GLikely benign