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

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2394581	NM_001138.2(AGRP):c.391C>T (p.Arg131Cys)	AGRP, ATP6V0D1-DT (R131C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357224	NM_001138.2(AGRP):c.377T>A (p.Met126Lys)	AGRP, ATP6V0D1-DT (M126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404398	NM_001138.2(AGRP):c.358C>T (p.Arg120Cys)	AGRP, ATP6V0D1-DT (R120C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339750	NM_001138.2(AGRP):c.295G>A (p.Val99Met)	AGRP, ATP6V0D1-DT (V99M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097179	NM_001138.2(AGRP):c.286G>A (p.Gly96Arg)	AGRP, ATP6V0D1-DT (G96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324907	NM_001138.2(AGRP):c.180A>C (p.Glu60Asp)	AGRP, ATP6V0D1-DT (E60D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532887	NM_001138.2(AGRP):c.142C>T (p.Arg48Trp)	AGRP, ATP6V0D1-DT (R48W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276573	NM_001138.2(AGRP):c.113T>G (p.Leu38Arg)	AGRP, ATP6V0D1-DT (L38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476779	NM_001138.2(AGRP):c.69G>A (p.Met23Ile)	AGRP, ATP6V0D1-DT (M23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097174	NM_001138.2(AGRP):c.14C>T (p.Ala5Val)	AGRP, ATP6V0D1-DT (A5V)	Single nucleotide variant (missense variant)	not specified	GLikely benign