DENND4C[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001533, LOC130001534 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	ACER2, ACO1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	STOML2, TAF1L +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	HRCT1, IFNA1 +882 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	DAPK1-IT1, DCAF10 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	INSL4, INSL6 +484 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	LOC130001589, LOC130001590 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001787, LOC130001788 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001685, LOC130001686 +898 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	DMRT2, DMRT3 +581 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	FAM242F, FAM27C +979 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	LOC129929032, LOC130001435 +538 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC130001450, LOC130001451 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC126860590, LOC126860591 +897 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	KANK1, KCNV2 +893 more	Copy number gain	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	ACER2, ADAMTSL1 +461 more	Copy number gain	See cases	GPathogenic
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	ACER2, ADAMTSL1 +412 more	Copy number gain	See cases	GPathogenic
Select item 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	ACER2, ADAMTSL1 +355 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	LOC130001651, LOC130001652 +585 more	Copy number gain	See cases	GPathogenic
Select item 59878	GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3	ACER2, ADAMTSL1 +243 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	LOC130001669, LOC130001670 +690 more	Copy number gain	See cases	GPathogenic
Select item 2239833	NM_001330640.2(DENND4C):c.721A>G (p.Ile241Val)	DENND4C (I5V +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2302519	NM_001330640.2(DENND4C):c.732G>C (p.Trp244Cys)	DENND4C (W244C +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2290932	NM_001330640.2(DENND4C):c.752C>T (p.Pro251Leu)	DENND4C (P15L +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2536355	NM_001330640.2(DENND4C):c.821A>G (p.Gln274Arg)	DENND4C (Q274R +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2606225	NM_001330640.2(DENND4C):c.1121A>T (p.Asp374Val)	DENND4C (D374V +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2494436	NM_001330640.2(DENND4C):c.1216G>T (p.Ala406Ser)	DENND4C (A170S +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 151914	GRCh38/hg38 9p22.1(chr9:19302072-19564275)x3	ACER2, DENND4C +7 more	Copy number gain	See cases	GLikely benign
Select item 2594673	NM_001330640.2(DENND4C):c.1437C>A (p.Asp479Glu)	DENND4C (D127E +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2286223	NM_001330640.2(DENND4C):c.1464C>G (p.Asp488Glu)	DENND4C (D488E +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2221043	NM_001330640.2(DENND4C):c.1483T>C (p.Tyr495His)	DENND4C (Y143H +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2267340	NM_001330640.2(DENND4C):c.1680G>A (p.Met560Ile)	DENND4C (M58I +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2268564	NM_001330640.2(DENND4C):c.1690G>C (p.Glu564Gln)	DENND4C (E170Q +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2401166	NM_001330640.2(DENND4C):c.1691A>G (p.Glu564Gly)	DENND4C (E170G +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2523735	NM_001330640.2(DENND4C):c.1853T>G (p.Leu618Arg)	DENND4C (L224R +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2204426	NM_001330640.2(DENND4C):c.2126A>G (p.Lys709Arg)	DENND4C (K473R +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2221106	NM_001330640.2(DENND4C):c.2165C>T (p.Pro722Leu)	DENND4C (P486L +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2367588	NM_001330640.2(DENND4C):c.2176A>G (p.Lys726Glu)	DENND4C (K374E +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2516089	NM_001330640.2(DENND4C):c.2201C>T (p.Thr734Ile)	DENND4C (T232I +5 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2611688	NM_001330640.2(DENND4C):c.2233A>G (p.Met745Val)	DENND4C (M710V +5 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2362772	NM_001330640.2(DENND4C):c.2264C>G (p.Thr755Arg)	DENND4C (T190R +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2474615	NM_001330640.2(DENND4C):c.2321T>A (p.Leu774Gln)	DENND4C (L272Q +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2600523	NM_001330640.2(DENND4C):c.2390T>G (p.Val797Gly)	DENND4C (V445G +6 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2659105	NM_001330640.2(DENND4C):c.2418A>C (p.Val806=)	DENND4C	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2306848	NM_001330640.2(DENND4C):c.2480T>C (p.Met827Thr)	DENND4C (M591T +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260745	NM_001330640.2(DENND4C):c.2594T>A (p.Val865Asp)	DENND4C (V830D +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2286433	NM_001330640.2(DENND4C):c.2626A>C (p.Ser876Arg)	DENND4C (S876R +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455795	NM_001330640.2(DENND4C):c.2666G>A (p.Arg889His)	DENND4C (R387H +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2280347	NM_001330640.2(DENND4C):c.3046C>A (p.Pro1016Thr)	DENND4C (P451T +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514691	NM_001330640.2(DENND4C):c.3266T>C (p.Phe1089Ser)	DENND4C (F1005S +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2243930	NM_001330640.2(DENND4C):c.3361A>G (p.Met1121Val)	DENND4C (M885V +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2379955	NM_001330640.2(DENND4C):c.3409A>G (p.Lys1137Glu)	DENND4C (K572E +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2598976	NM_001330640.2(DENND4C):c.3443G>A (p.Ser1148Asn)	DENND4C (S1142N +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390539	NM_001330640.2(DENND4C):c.3568C>T (p.Pro1190Ser)	DENND4C (P1141S +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329051	NM_001330640.2(DENND4C):c.3610A>G (p.Thr1204Ala)	DENND4C (T1155A +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2338638	NM_001330640.2(DENND4C):c.3635G>T (p.Ser1212Ile)	DENND4C (S1143I +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540466	NM_001330640.2(DENND4C):c.3652A>G (p.Arg1218Gly)	DENND4C (R1134G +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2354330	NM_001330640.2(DENND4C):c.3658T>A (p.Leu1220Met)	DENND4C (L1171M +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260896	NM_001330640.2(DENND4C):c.3718G>A (p.Val1240Met)	DENND4C (V1191M +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389913	NM_001330640.2(DENND4C):c.3808G>A (p.Asp1270Asn)	DENND4C (D1186N +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266960	NM_001330640.2(DENND4C):c.4043C>T (p.Ala1348Val)	DENND4C (A1112V +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2204287	NM_001330640.2(DENND4C):c.4048T>C (p.Ser1350Pro)	DENND4C (S1266P +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2401338	NM_001330640.2(DENND4C):c.4058A>C (p.Lys1353Thr)	DENND4C (K1269T +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323340	NM_001330640.2(DENND4C):c.4072C>T (p.Arg1358Cys)	DENND4C (R1309C +9 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594833	NM_001330640.2(DENND4C):c.4139G>A (p.Arg1380His)	DENND4C (R1028H +9 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2659106	NM_001330640.2(DENND4C):c.4281A>G (p.Val1427=)	DENND4C	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2359909	NM_001330640.2(DENND4C):c.4410G>C (p.Leu1470Phe)	DENND4C (L1421F +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273919	NM_001330640.2(DENND4C):c.4443T>A (p.Ser1481Arg)	DENND4C (S1397R +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389425	NM_001330640.2(DENND4C):c.4483C>T (p.His1495Tyr)	DENND4C (H1101Y +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250595	NM_001330640.2(DENND4C):c.4507T>C (p.Phe1503Leu)	DENND4C (F1151L +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607012	NM_001330640.2(DENND4C):c.4597G>A (p.Ala1533Thr)	DENND4C (A1139T +11 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2527209	NM_001330640.2(DENND4C):c.4666A>G (p.Ile1556Val)	DENND4C (I1162V +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2299212	NM_001330640.2(DENND4C):c.4681A>T (p.Thr1561Ser)	DENND4C (T1209S +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239884	NM_001330640.2(DENND4C):c.4946G>C (p.Gly1649Ala)	DENND4C (G1084A +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273327	NM_001330640.2(DENND4C):c.5114A>G (p.His1705Arg)	DENND4C (H1656R +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382322	NM_001330640.2(DENND4C):c.5120T>G (p.Ile1707Ser)	DENND4C (I1142S +11 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2921010	NM_001330640.2(DENND4C):c.5160+1G>A	DENND4C	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2490848	NM_001330640.2(DENND4C):c.5216C>T (p.Pro1739Leu)	DENND4C (P1345L +11 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2659107	NM_001330640.2(DENND4C):c.5243C>G (p.Ser1748Cys)	DENND4C (S1183C +11 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2383764	NM_001330640.2(DENND4C):c.5290A>G (p.Ile1764Val)	DENND4C (I1758V +11 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2355453	NM_001330640.2(DENND4C):c.5302C>T (p.Pro1768Ser)	DENND4C (P1638S +11 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2228014	NM_001330640.2(DENND4C):c.5305A>G (p.Ile1769Val)	DENND4C (I1204V +11 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2534856	NM_001330640.2(DENND4C):c.5323G>A (p.Val1775Ile)	DENND4C (V1210I +11 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2623587	NM_001330640.2(DENND4C):c.5461T>C (p.Trp1821Arg)	DENND4C (W1256R +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403605	NM_001330640.2(DENND4C):c.5598G>C (p.Gln1866His)	DENND4C (Q1472H +12 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2233214	NM_001330640.2(DENND4C):c.5791A>G (p.Ile1931Val)	DENND4C (I1366V +12 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2357322	NM_001330640.2(DENND4C):c.5824C>G (p.Pro1942Ala)	DENND4C (P1377A +12 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2240703	NM_001330640.2(DENND4C):c.5825C>T (p.Pro1942Leu)	DENND4C (P1440L +12 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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