DENND1C[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	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 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 150491	GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3	ACER1, ACSBG2 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2458826	NM_024898.4(DENND1C):c.2402G>A (p.Gly801Asp)	DENND1C (G757D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209562	NM_024898.4(DENND1C):c.2366G>A (p.Arg789Gln)	DENND1C (R789Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2538824	NM_024898.4(DENND1C):c.2365C>T (p.Arg789Trp)	DENND1C (R789W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081474	NM_024898.4(DENND1C):c.2333C>A (p.Thr778Asn)	DENND1C (T778N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389118	NM_024898.4(DENND1C):c.2293C>T (p.Arg765Trp)	DENND1C (R765W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600656	NM_024898.4(DENND1C):c.2255C>A (p.Pro752His)	DENND1C (P752H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262202	NM_024898.4(DENND1C):c.2248C>T (p.Arg750Trp)	DENND1C (R750W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081472	NM_024898.4(DENND1C):c.2119C>A (p.Pro707Thr)	DENND1C (P663T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552707	NM_024898.4(DENND1C):c.2101C>A (p.Pro701Thr)	DENND1C (P657T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590065	NM_024898.4(DENND1C):c.2098A>G (p.Thr700Ala)	DENND1C (T656A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547460	NM_024898.4(DENND1C):c.1917G>C (p.Arg639Ser)	DENND1C (R639S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264714	NM_024898.4(DENND1C):c.1856C>G (p.Ser619Cys)	DENND1C (S619C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514095	NM_024898.4(DENND1C):c.1776C>G (p.Asp592Glu)	DENND1C (D548E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465034	NM_024898.4(DENND1C):c.1720G>A (p.Ala574Thr)	DENND1C (A530T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3081469	NM_024898.4(DENND1C):c.1621T>G (p.Trp541Gly)	DENND1C (W497G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294113	NM_024898.4(DENND1C):c.1543C>T (p.Arg515Cys)	DENND1C (R471C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590067	NM_024898.4(DENND1C):c.1475G>A (p.Arg492His)	DENND1C (R448H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081468	NM_024898.4(DENND1C):c.1474C>G (p.Arg492Gly)	DENND1C (R448G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239602	NM_024898.4(DENND1C):c.1436G>A (p.Gly479Asp)	DENND1C (G435D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081466	NM_024898.4(DENND1C):c.1384G>A (p.Val462Met)	DENND1C (V418M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2236881	NM_024898.4(DENND1C):c.1252G>T (p.Ala418Ser)	DENND1C (A374S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359190	NM_024898.4(DENND1C):c.1237G>A (p.Gly413Arg)	DENND1C (G369R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081465	NM_024898.4(DENND1C):c.1199G>A (p.Gly400Asp)	DENND1C (G356D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411095	NM_024898.4(DENND1C):c.1172G>A (p.Arg391Gln)	DENND1C (R347Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081464	NM_024898.4(DENND1C):c.1165G>C (p.Glu389Gln)	DENND1C (E389Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292052	NM_024898.4(DENND1C):c.1157A>G (p.Gln386Arg)	DENND1C (Q386R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357030	NM_024898.4(DENND1C):c.1117G>T (p.Ala373Ser)	DENND1C (A329S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483379	NM_024898.4(DENND1C):c.1073G>A (p.Ser358Asn)	DENND1C (S358N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081463	NM_024898.4(DENND1C):c.1052C>G (p.Pro351Arg)	DENND1C (P307R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349075	NM_024898.4(DENND1C):c.874G>A (p.Ala292Thr)	DENND1C (A292T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374246	NM_024898.4(DENND1C):c.832C>G (p.Arg278Gly)	DENND1C (R234G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378838	NM_024898.4(DENND1C):c.541G>C (p.Gly181Arg)	DENND1C (G181R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081476	NM_024898.4(DENND1C):c.488C>G (p.Pro163Arg)	DENND1C (P119R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618245	NM_024898.4(DENND1C):c.488C>A (p.Pro163His)	DENND1C (P163H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252745	NM_024898.4(DENND1C):c.482T>C (p.Ile161Thr)	DENND1C (I161T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525609	NM_024898.4(DENND1C):c.472G>A (p.Gly158Arg)	DENND1C (G114R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081475	NM_024898.4(DENND1C):c.461C>T (p.Thr154Met)	DENND1C (T110M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649136	NM_024898.4(DENND1C):c.461C>A (p.Thr154Lys)	DENND1C (T110K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2347919	NM_024898.4(DENND1C):c.421C>T (p.Pro141Ser)	DENND1C (P97S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318879	NM_024898.4(DENND1C):c.333G>T (p.Leu111Phe)	DENND1C (L67F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384568	NM_024898.4(DENND1C):c.233G>A (p.Gly78Asp)	DENND1C (G78D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466671	NM_024898.4(DENND1C):c.202C>A (p.His68Asn)	DENND1C (H24N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081471	NM_024898.4(DENND1C):c.193G>A (p.Ala65Thr)	DENND1C (A21T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081470	NM_024898.4(DENND1C):c.187A>G (p.Ser63Gly)	DENND1C (S19G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081478	NM_024898.4(DENND1C):c.98G>A (p.Arg33Gln)	DENND1C (R33Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081473	NM_024898.4(DENND1C):c.22G>T (p.Gly8Cys)	DENND1C (G8C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	UBXN6, UHRF1 +202 more	Copy number gain	not provided	GPathogenic
Select item 2426564	NC_000019.9:g.(?_6361586)_(8212364_?)del	ARHGEF18, C3 +51 more	Deletion	Mucolipidosis type IV	GPathogenic
Select item 1526654	GRCh37/hg19 19p13.3(chr19:6394117-6469834)	SLC25A41, CRB3 +3 more	Copy number loss	not specified	GUncertain significance
Select item 980754	GRCh37/hg19 19p13.3(chr19:6096399-6699729)x3	ACER1, ACSBG2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 816063	GRCh37/hg19 19p13.3(chr19:6246138-6823741)x3	TNFSF14, SH2D3A +18 more	Copy number gain	not provided	GUncertain significance
Select item 816062	GRCh37/hg19 19p13.3(chr19:5949772-6699729)x3	MLLT1, ACER1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 59