"GeneDx"[submitter] AND "AP3D1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 60069	GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1	ABHD17A, ADAT3 +108 more	Copy number loss	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 1221081	NM_001261826.3(AP3D1):c.3553-243G>C	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272609	NM_001261826.3(AP3D1):c.3553-276C>G	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183770	NM_001261826.3(AP3D1):c.3472+156G>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275030	NM_001261826.3(AP3D1):c.3472+66A>G	AP3D1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1168561	NM_001261826.3(AP3D1):c.3472+14G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166875	NM_001261826.3(AP3D1):c.3400A>G (p.Ile1134Val)	AP3D1 (I1072V +2 more)	Single nucleotide variant (missense variant)	AP3D1-related condition +1 more	GBenign
Select item 1241065	NM_001261826.3(AP3D1):c.3351-274C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287308	NM_001261826.3(AP3D1):c.3350+276A>G	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283947	NM_001261826.3(AP3D1):c.3350+205G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178643	NM_001261826.3(AP3D1):c.3350+60C>G	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224817	NM_001261826.3(AP3D1):c.3350+38C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227933	NM_001261826.3(AP3D1):c.3265-31T>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280940	NM_001261826.3(AP3D1):c.3265-62A>G	AP3D1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1244377	NM_001261826.3(AP3D1):c.3264+27A>G	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 778804	NM_001261826.3(AP3D1):c.3198T>C (p.Tyr1066=)	AP3D1	Single nucleotide variant (synonymous variant)	AP3D1-related condition +1 more	GLikely benign
Select item 1167433	NM_001261826.3(AP3D1):c.3135C>T (p.Ser1045=)	AP3D1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1246128	NM_001261826.3(AP3D1):c.2986-140G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236119	NM_001261826.3(AP3D1):c.2986-143C>G	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221855	NM_001261826.3(AP3D1):c.2986-168A>G	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283995	NM_001261826.3(AP3D1):c.2938-51C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288846	NM_001261826.3(AP3D1):c.2938-66A>G	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274168	NM_001261826.3(AP3D1):c.2937+29A>G	AP3D1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1168562	NM_001261826.3(AP3D1):c.2937+17C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230368	NM_001261826.3(AP3D1):c.2788-47del	AP3D1	Deletion (intron variant)	not provided	GBenign
Select item 1275944	NM_001261826.3(AP3D1):c.2679+62C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234036	NM_001261826.3(AP3D1):c.2679+34G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281075	NM_001261826.3(AP3D1):c.2602-55C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231067	NM_001261826.3(AP3D1):c.2602-106C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243150	NM_001261826.3(AP3D1):c.2602-288G>C	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235011	NM_001261826.3(AP3D1):c.2601+226G>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243893	NM_001261826.3(AP3D1):c.2601+215C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166876	NM_001261826.3(AP3D1):c.2550A>G (p.Lys850=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1281555	NM_001261826.3(AP3D1):c.2424-164G>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269647	NM_001261826.3(AP3D1):c.2423+53C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	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 1249186	NM_001261826.3(AP3D1):c.2349+91C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285666	NM_001261826.3(AP3D1):c.2150-22G>C	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237085	NM_001261826.3(AP3D1):c.2149+58G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241386	NM_001261826.3(AP3D1):c.2149+44T>C	AP3D1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 730352	NM_001261826.3(AP3D1):c.2109C>T (p.Pro703=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1280119	NM_001261826.3(AP3D1):c.2074-56C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287635	NM_001261826.3(AP3D1):c.2074-178A>G	AP3D1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1249717	NM_001261826.3(AP3D1):c.2073+288G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251802	NM_001261826.3(AP3D1):c.2073+118C>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169442	NM_001261826.3(AP3D1):c.2002-4A>G	AP3D1	Single nucleotide variant (intron variant)	not specified +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 provided +1 more	GBenign
Select item 1169443	NM_001261826.3(AP3D1):c.1956T>C (p.Arg652=)	AP3D1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1168563	NM_001261826.3(AP3D1):c.1860-15T>C	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1168564	NM_001261826.3(AP3D1):c.1860-19G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278256	NM_001261826.3(AP3D1):c.1860-88A>G	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245567	NM_001261826.3(AP3D1):c.1859+146C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264400	NM_001261826.3(AP3D1):c.1713+260G>C	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262765	NM_001261826.3(AP3D1):c.1713+70C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166877	NM_001261826.3(AP3D1):c.1621G>A (p.Gly541Arg)	AP3D1 (G541R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1279607	NM_001261826.3(AP3D1):c.1482-182C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166878	NM_001261826.3(AP3D1):c.1102-6G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242386	NM_001261826.3(AP3D1):c.1101+185G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278658	NM_001261826.3(AP3D1):c.1101+184G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225303	NM_001261826.3(AP3D1):c.956-216G>C	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280022	NM_001261826.3(AP3D1):c.956-221G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225674	NM_001261826.3(AP3D1):c.955+29T>C	AP3D1	Single nucleotide variant (intron variant)	not provided	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 provided +1 more	GBenign
Select item 1220739	NM_001261826.3(AP3D1):c.857-50G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287176	NM_001261826.3(AP3D1):c.857-156A>G	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 770457	NM_001261826.3(AP3D1):c.856+10G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	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 1228744	NM_001261826.3(AP3D1):c.807-290del	AP3D1	Deletion (intron variant)	not provided	GBenign
Select item 1316395	NM_001261826.3(AP3D1):c.806+62C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1273635	NM_001261826.3(AP3D1):c.593-18G>C	AP3D1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1317809	NM_001261826.3(AP3D1):c.593-224C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234979	NM_001261826.3(AP3D1):c.593-250T>C	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316187	NM_001261826.3(AP3D1):c.592+229T>C	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707177	NM_001261826.3(AP3D1):c.592+85G>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320580	NM_001261826.3(AP3D1):c.462+108C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1164944	NM_001261826.3(AP3D1):c.354+18G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1167434	NM_001261826.3(AP3D1):c.354+10C>G	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225982	NM_001261826.3(AP3D1):c.274-236dup	AP3D1	Duplication (intron variant)	not provided	GBenign
Select item 1266586	NM_001261826.3(AP3D1):c.273+231T>C	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254728	NM_001261826.3(AP3D1):c.273+31del	AP3D1	Deletion (intron variant)	not provided	GBenign
Select item 1225703	NM_001261826.3(AP3D1):c.193-64G>A	AP3D1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1282959	NM_001261826.3(AP3D1):c.193-79G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282211	NM_001261826.3(AP3D1):c.193-235A>G	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272102	NM_001261826.3(AP3D1):c.192+117C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288131	NM_001261826.3(AP3D1):c.192+111T>C	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1169718	NM_001261826.3(AP3D1):c.156A>C (p.Ile52=)	AP3D1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1287199	NM_001261826.3(AP3D1):c.97-129G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247202	NM_001261826.3(AP3D1):c.97-135G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316811	NM_001261826.3(AP3D1):c.-98G>A	AP3D1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1316661	NM_001261826.3(AP3D1):c.-177C>G	AP3D1, LOC130063028	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1230683	NM_001261826.3(AP3D1):c.-182C>T	AP3D1, LOC130063028	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1706797	NM_001261826.3(AP3D1):c.-194G>T	AP3D1, LOC130063028	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1706726	NM_001261826.3(AP3D1):c.-201C>T	AP3D1, LOC130063028	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1236269	NC_000019.10:g.2151762T>C	AP3D1	Single nucleotide variant	not provided	GBenign

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