"Ambry Genetics"[submitter] AND "ATP6V0D1-DT"[gene] - ClinVar

	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)	Inborn genetic diseases	GUncertain significance
Select item 2357224	NM_001138.2(AGRP):c.377T>A (p.Met126Lys)	ATP6V0D1-DT, AGRP (M126K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404398	NM_001138.2(AGRP):c.358C>T (p.Arg120Cys)	ATP6V0D1-DT, AGRP (R120C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2339750	NM_001138.2(AGRP):c.295G>A (p.Val99Met)	ATP6V0D1-DT, AGRP (V99M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2324907	NM_001138.2(AGRP):c.180A>C (p.Glu60Asp)	ATP6V0D1-DT, AGRP (E60D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532887	NM_001138.2(AGRP):c.142C>T (p.Arg48Trp)	AGRP, ATP6V0D1-DT (R48W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476779	NM_001138.2(AGRP):c.69G>A (p.Met23Ile)	AGRP, ATP6V0D1-DT (M23I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar