"GeneDx"[submitter] AND "CUL3"[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 2497884	NM_003590.5(CUL3):c.2267G>A (p.Arg756Gln)	CUL3 (R690Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501546	NM_003590.5(CUL3):c.2266C>T (p.Arg756Ter)	CUL3 (R690* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1307854	NM_003590.5(CUL3):c.2242del (p.Ile749fs)	CUL3 (I683fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1279984	NM_003590.5(CUL3):c.2176-99_2176-98insTTACT	CUL3	Insertion (intron variant)	not provided	GBenign
Select item 1227795	NM_003590.5(CUL3):c.2175+320T>A	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1801172	NM_003590.5(CUL3):c.2175+2_2175+3dup	CUL3	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2442445	NM_003590.5(CUL3):c.2120T>C (p.Ile707Thr)	CUL3 (I641T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579396	NM_003590.5(CUL3):c.2044G>A (p.Gly682Ser)	CUL3 (G616S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1279408	NM_003590.5(CUL3):c.2030-146C>T	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266889	NM_003590.5(CUL3):c.2030-155_2030-154insTAAA	CUL3	Insertion (intron variant)	not provided	GBenign
Select item 1234882	NM_003590.5(CUL3):c.2029+232T>C	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259092	NM_003590.5(CUL3):c.1992A>G (p.Gln664=)	CUL3	Single nucleotide variant (synonymous variant)	Pseudohypoaldosteronism type 2E +3 more	GBenign
Select item 2502629	NM_003590.5(CUL3):c.1880T>A (p.Leu627His)	CUL3 (L561H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304080	NM_003590.5(CUL3):c.1843-3C>A	CUL3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1242780	NM_003590.5(CUL3):c.1843-248A>T	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264018	NM_003590.5(CUL3):c.1708-292A>G	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178770	NM_003590.5(CUL3):c.1708-297A>G	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272057	NM_003590.5(CUL3):c.1708-302A>G	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259091	NM_003590.5(CUL3):c.1699G>A (p.Val567Ile)	CUL3 (V567I +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 2580714	NM_003590.5(CUL3):c.1643T>C (p.Leu548Pro)	CUL3 (L482P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1214982	NM_003590.5(CUL3):c.1636C>T (p.Arg546Ter)	CUL3 (R480* +2 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without autism or seizures +2 more	GConflicting classifications of pathogenicity
Select item 1278844	NM_003590.5(CUL3):c.1611-107CA[11]	CUL3	Microsatellite (intron variant)	not provided	GBenign
Select item 1282944	NM_003590.5(CUL3):c.1611-232T>C	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238235	NM_003590.5(CUL3):c.1610+143A>G	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274363	NM_003590.5(CUL3):c.1610+24T>C	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1312020	NM_003590.5(CUL3):c.1559C>T (p.Pro520Leu)	CUL3 (P454L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1261725	NM_003590.5(CUL3):c.1486-157dup	CUL3	Duplication (intron variant)	not provided	GBenign
Select item 1297847	NM_003590.5(CUL3):c.1486-141del	CUL3	Deletion (intron variant)	not provided	GBenign
Select item 259090	NM_003590.5(CUL3):c.1485+13G>A	CUL3	Single nucleotide variant (intron variant)	Autosomal dominant pseudohypoaldosteronism type 1 +3 more	GBenign
Select item 1314190	NM_003590.5(CUL3):c.1388G>A (p.Gly463Glu)	CUL3 (G397E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1259943	NM_003590.5(CUL3):c.1378-206G>A	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183204	NM_003590.5(CUL3):c.1378-207G>C	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259652	NM_003590.5(CUL3):c.1377+275C>A	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288580	NM_003590.5(CUL3):c.1377+48T>C	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1722387	NM_003590.5(CUL3):c.1377+1G>A	CUL3	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2578292	NM_003590.5(CUL3):c.1314_1341delinsTCTCACA (p.Arg438_Ser447delinsSerLeuThr)	CUL3	Indel (inframe_indel)	not provided	GUncertain significance
Select item 1700528	NM_003590.5(CUL3):c.1294T>G (p.Tyr432Asp)	CUL3 (Y366D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309503	NM_003590.5(CUL3):c.1248G>A (p.Met416Ile)	CUL3 (M350I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290065	NM_003590.5(CUL3):c.1206+119G>T	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2663085	NM_003590.5(CUL3):c.966G>T (p.Arg322Ser)	CUL3 (R256S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311569	NM_003590.5(CUL3):c.964dup (p.Arg322fs)	CUL3 (R256fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2430414	NM_003590.5(CUL3):c.908T>G (p.Phe303Cys)	CUL3 (F237C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1280154	NM_003590.5(CUL3):c.883+177C>T	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270151	NM_003590.5(CUL3):c.883+39C>G	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243412	NM_003590.5(CUL3):c.883+37C>T	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 523862	NM_003590.5(CUL3):c.739C>T (p.Arg247Ter)	CUL3 (R247* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2582088	NM_003590.5(CUL3):c.706_709del (p.Lys235_Lys236insTer)	CUL3	Microsatellite (nonsense)	not provided	GLikely pathogenic
Select item 1312211	NM_003590.5(CUL3):c.655-2A>G	CUL3	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1270478	NM_003590.5(CUL3):c.540-31_540-28del	CUL3	Deletion (intron variant)	not provided	GBenign
Select item 1248823	NM_003590.5(CUL3):c.540-147del	CUL3	Deletion (intron variant)	not provided	GBenign
Select item 503870	NM_003590.5(CUL3):c.493_494del (p.Leu165fs)	CUL3 (L165fs +2 more)	Microsatellite (frameshift variant)	Neurodevelopmental disorder with or without autism or seizures +3 more	GPathogenic/Likely pathogenic
Select item 2505585	NM_003590.5(CUL3):c.485G>C (p.Arg162Pro)	CUL3 (R162P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446358	NM_003590.5(CUL3):c.475G>A (p.Asp159Asn)	CUL3 (D159N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1190331	NM_003590.5(CUL3):c.433_436del (p.Ile145fs)	CUL3 (I145fs +2 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2571915	NM_003590.5(CUL3):c.428G>A (p.Gly143Glu)	CUL3 (G143E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504728	NM_003590.5(CUL3):c.391G>A (p.Val131Ile)	CUL3 (V131I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254497	NM_003590.5(CUL3):c.383G>A (p.Arg128His)	CUL3 (R128H +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without autism or seizures +1 more	GConflicting classifications of pathogenicity
Select item 2430748	NM_003590.5(CUL3):c.382C>T (p.Arg128Cys)	CUL3 (R128C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1272822	NM_003590.5(CUL3):c.379-244A>G	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269307	NM_003590.5(CUL3):c.378+54_378+59del	CUL3	Microsatellite (intron variant)	not provided	GBenign
Select item 1810435	NM_003590.5(CUL3):c.268C>T (p.Arg90Ter)	CUL3 (R90* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1291932	NM_003590.5(CUL3):c.265-157A>T	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279610	NM_003590.5(CUL3):c.264+295del	CUL3	Deletion (intron variant)	not provided	GBenign
Select item 1233003	NM_003590.5(CUL3):c.264+136del	CUL3	Deletion (intron variant)	not provided	GBenign
Select item 2430606	NM_003590.5(CUL3):c.185A>G (p.Tyr62Cys)	CUL3 (Y62C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 559557	NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys)	CUL3 (Y58C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 452962	NM_003590.5(CUL3):c.116dup (p.Asn39fs)	CUL3 (N39fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1343916	NM_003590.5(CUL3):c.74T>C (p.Met25Thr)	CUL3 (M25T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1244839	NM_003590.5(CUL3):c.67-11683G>C	CUL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 504910	NM_003590.5(CUL3):c.67-11872T>C	CUL3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1803416	NM_003590.5(CUL3):c.17A>G (p.Lys6Arg)	CUL3, LOC129935709 (K6R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290057	NC_000002.12:g.224585444G>C	CUL3, LOC129935710	Single nucleotide variant	not provided	GBenign
Select item 1237273	NC_000002.12:g.224585651G>C	CUL3, LOC129935710	Single nucleotide variant	not provided	GBenign
Select item 1251406	NC_000002.12:g.224585652G>T	CUL3, LOC129935710	Single nucleotide variant	not provided	GBenign

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Items: 75