"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1275030	NM_001261826.3(AP3D1):c.3472+66A>G	AP3D1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1280940	NM_001261826.3(AP3D1):c.3265-62A>G	AP3D1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1167433	NM_001261826.3(AP3D1):c.3135C>T (p.Ser1045=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1274168	NM_001261826.3(AP3D1):c.2937+29A>G	AP3D1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1221041	NM_001261826.3(AP3D1):c.2349+182A>G	AP3D1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1241386	NM_001261826.3(AP3D1):c.2149+44T>C	AP3D1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1287635	NM_001261826.3(AP3D1):c.2074-178A>G	AP3D1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1169442	NM_001261826.3(AP3D1):c.2002-4A>G	AP3D1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1278158	NM_001261826.3(AP3D1):c.2002-123G>A	AP3D1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1278367	NM_001261826.3(AP3D1):c.2001+138C>G	AP3D1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1169443	NM_001261826.3(AP3D1):c.1956T>C (p.Arg652=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1271123	NM_001261826.3(AP3D1):c.907-111T>C	AP3D1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1248398	NM_001261826.3(AP3D1):c.906+117C>G	AP3D1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1283118	NM_001261826.3(AP3D1):c.807-72T>C	AP3D1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2628282	NM_001261826.3(AP3D1):c.806+60G>T	AP3D1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1230027	NM_001261826.3(AP3D1):c.806+22T>C	AP3D1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1235966	NM_001261826.3(AP3D1):c.593-17A>G	AP3D1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1083071	NM_001261826.3(AP3D1):c.593-18_593-17delinsCG	AP3D1	Indel (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1273635	NM_001261826.3(AP3D1):c.593-18G>C	AP3D1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1225703	NM_001261826.3(AP3D1):c.193-64G>A	AP3D1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1169718	NM_001261826.3(AP3D1):c.156A>C (p.Ile52=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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Items: 21