DCAF15[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 147761	GRCh38/hg38 19p13.2-13.12(chr19:11525163-14155021)x1	BEST2, BRME1 +355 more	Copy number loss	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC130063796, LOC130063797 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 57362	GRCh38/hg38 19p13.13-13.12(chr19:13533925-14258833)x1	ADGRL1, ADGRL1-AS1 +87 more	Copy number loss	See cases	GUncertain significance
Select item 2243928	NM_138353.4(DCAF15):c.29A>G (p.Asn10Ser)	DCAF15, PODNL1 (N10S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2391443	NM_138353.4(DCAF15):c.40G>A (p.Gly14Arg)	DCAF15, PODNL1 (G14R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225651	NM_138353.4(DCAF15):c.68C>G (p.Ala23Gly)	DCAF15, PODNL1 (A23G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510774	NM_138353.4(DCAF15):c.283A>T (p.Ser95Cys)	DCAF15 (S95C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377286	NM_138353.4(DCAF15):c.445G>A (p.Ala149Thr)	DCAF15 (A130T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 782322	NM_138353.4(DCAF15):c.459C>T (p.Ile153=)	DCAF15	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2490189	NM_138353.4(DCAF15):c.479G>A (p.Arg160His)	DCAF15 (R160H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2488898	NM_138353.4(DCAF15):c.533G>A (p.Arg178His)	DCAF15 (R178H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321897	NM_138353.4(DCAF15):c.620C>T (p.Pro207Leu)	DCAF15 (P206L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250531	NM_138353.4(DCAF15):c.908C>T (p.Ala303Val)	DCAF15 (A193V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408500	NM_138353.4(DCAF15):c.917G>C (p.Arg306Pro)	DCAF15 (R196P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484049	NM_138353.4(DCAF15):c.923C>T (p.Ser308Phe)	DCAF15 (S198F +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475105	NM_138353.4(DCAF15):c.946G>A (p.Ala316Thr)	DCAF15 (A206T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474903	NM_138353.4(DCAF15):c.989G>A (p.Arg330Gln)	DCAF15 (R214Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529496	NM_138353.4(DCAF15):c.1015C>T (p.Pro339Ser)	DCAF15 (P223S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2544381	NM_138353.4(DCAF15):c.1066C>T (p.Arg356Cys)	DCAF15 (R240C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355875	NM_138353.4(DCAF15):c.1070C>T (p.Ala357Val)	DCAF15 (A247V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245671	NM_138353.4(DCAF15):c.1244T>C (p.Leu415Pro)	DCAF15 (L396P +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349519	NM_138353.4(DCAF15):c.1267C>T (p.Arg423Cys)	DCAF15 (R422C +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322388	NM_138353.4(DCAF15):c.1277A>G (p.Asn426Ser)	DCAF15 (N316S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405246	NM_138353.4(DCAF15):c.1294G>A (p.Glu432Lys)	DCAF15 (E316K +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768974	NM_138353.4(DCAF15):c.1440+14_1440+33dup	DCAF15	Duplication (splice donor variant)	not provided	GBenign
Select item 2611416	NM_138353.4(DCAF15):c.1462G>A (p.Val488Ile)	DCAF15 (V488I +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308548	NM_138353.4(DCAF15):c.1682A>G (p.Lys561Arg)	DCAF15 (K561R +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401588	NM_138353.4(DCAF15):c.1684T>A (p.Trp562Arg)	DCAF15 (W562R +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396144	NM_138353.4(DCAF15):c.1714G>A (p.Val572Ile)	DCAF15 (V537I +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252624	NM_138353.4(DCAF15):c.1787C>T (p.Thr596Met)	DCAF15 (T584M +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 1341175	GRCh37/hg19 19p13.2-13.12(chr19:12697728-14111313)x1	BEST2, BRME1 +45 more	Copy number loss	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443220	GRCh37/hg19 19p13.2-13.12(chr19:11608072-14543046)x3	ACP5, ADGRE5 +82 more	Copy number gain	See cases	GUncertain significance
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 442731	GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1	ADGRE5, ADGRL1 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	PRKCSH, PTGER1 +153 more	Copy number gain	See cases	GPathogenic

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Items: 42