"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "AP3D1"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1448525	NM_001261826.3(AP3D1):c.3640A>G (p.Lys1214Glu)	AP3D1 (K1202E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1920218	NM_001261826.3(AP3D1):c.3278C>T (p.Ala1093Val)	AP3D1 (A1031V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739784	NM_001261826.3(AP3D1):c.2812A>C (p.Lys938Gln)	AP3D1 (K876Q +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1449820	NM_001261826.3(AP3D1):c.2711C>T (p.Pro904Leu)	AP3D1 (P904L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1368938	NM_001261826.3(AP3D1):c.2645CCCCCG[3] (p.882AP[3])	AP3D1	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1387843	NM_001261826.3(AP3D1):c.2647C>T (p.Pro883Ser)	AP3D1 (P883S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2967302	NM_001261826.3(AP3D1):c.2606A>T (p.Glu869Val)	AP3D1 (E869V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2180875	NM_001261826.3(AP3D1):c.2601G>A (p.Lys867=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1477461	NM_001261826.3(AP3D1):c.2524A>G (p.Lys842Glu)	AP3D1 (K842E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1364011	NM_001261826.3(AP3D1):c.2276C>T (p.Ser759Leu)	AP3D1 (S759L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2184784	NM_001261826.3(AP3D1):c.2237G>A (p.Arg746Lys)	AP3D1 (R746K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380553	NM_001261826.3(AP3D1):c.2002C>T (p.Arg668Cys)	AP3D1 (R668C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438455	NM_001261826.3(AP3D1):c.2000G>A (p.Arg667Gln)	AP3D1 (R667Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1381010	NM_001261826.3(AP3D1):c.1917G>T (p.Glu639Asp)	AP3D1 (E639D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380554	NM_001261826.3(AP3D1):c.1738A>G (p.Lys580Glu)	AP3D1 (K580E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380555	NM_001261826.3(AP3D1):c.1712G>A (p.Arg571Gln)	AP3D1 (R571Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380556	NM_001261826.3(AP3D1):c.1702G>A (p.Val568Met)	AP3D1 (V568M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983565	NM_001261826.3(AP3D1):c.1483C>G (p.His495Asp)	AP3D1 (H495D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899139	NM_001261826.3(AP3D1):c.1330G>A (p.Val444Met)	AP3D1 (V444M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1502461	NM_001261826.3(AP3D1):c.1280G>A (p.Arg427Gln)	AP3D1 (R427Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380557	NM_001261826.3(AP3D1):c.894C>G (p.Ser298Arg)	AP3D1 (S298R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406604	NM_001261826.3(AP3D1):c.588C>A (p.Asp196Glu)	AP3D1 (D196E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2466237	NM_001261826.3(AP3D1):c.583C>T (p.Pro195Ser)	AP3D1 (P195S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1425057	NM_001261826.3(AP3D1):c.106A>G (p.Ile36Val)	AP3D1 (I36V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 24