WDR88[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 3333000	NM_173479.4(WDR88):c.79G>A (p.Glu27Lys)	WDR88 (E27K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379932	NM_173479.4(WDR88):c.91G>A (p.Gly31Ser)	WDR88 (G31S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190359	NM_173479.4(WDR88):c.159C>G (p.His53Gln)	WDR88 (H53Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190360	NM_173479.4(WDR88):c.306G>C (p.Glu102Asp)	WDR88 (E102D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233452	NM_173479.4(WDR88):c.307C>T (p.His103Tyr)	WDR88 (H103Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190361	NM_173479.4(WDR88):c.318C>A (p.Ser106Arg)	WDR88 (S106R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312126	NM_173479.4(WDR88):c.367G>C (p.Asp123His)	WDR88 (D123H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325577	NM_173479.4(WDR88):c.614T>G (p.Phe205Cys)	WDR88 (F205C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485150	NM_173479.4(WDR88):c.631A>G (p.Ile211Val)	WDR88 (I211V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332998	NM_173479.4(WDR88):c.649G>A (p.Glu217Lys)	WDR88 (E217K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279094	NM_173479.4(WDR88):c.791C>T (p.Thr264Met)	LOC132090907, WDR88 (T264M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190363	NM_173479.4(WDR88):c.821A>G (p.Asn274Ser)	WDR88 (N274S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190364	NM_173479.4(WDR88):c.958C>T (p.His320Tyr)	WDR88 (H320Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370134	NM_173479.4(WDR88):c.1016G>A (p.Gly339Glu)	WDR88 (G339E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311253	NM_173479.4(WDR88):c.1024G>C (p.Asp342His)	WDR88 (D342H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359111	NM_173479.4(WDR88):c.1104T>A (p.Asp368Glu)	WDR88 (D368E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362666	NM_173479.4(WDR88):c.1132A>G (p.Ile378Val)	WDR88 (I378V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326442	NM_173479.4(WDR88):c.1151A>G (p.Asp384Gly)	WDR88 (D384G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337056	NM_173479.4(WDR88):c.1311C>G (p.Cys437Trp)	WDR88 (C437W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190356	NM_173479.4(WDR88):c.1319G>C (p.Cys440Ser)	WDR88 (C440S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190357	NM_173479.4(WDR88):c.1336G>T (p.Gly446Cys)	WDR88 (G446C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321634	NM_173479.4(WDR88):c.1336G>A (p.Gly446Ser)	WDR88 (G446S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359460	NM_173479.4(WDR88):c.1343C>T (p.Pro448Leu)	WDR88 (P448L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190358	NM_173479.4(WDR88):c.1352C>T (p.Thr451Ile)	WDR88 (T451I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2685634	GRCh37/hg19 19q13.11(chr19:33570250-33641799)x1	GPATCH1, WDR88	Copy number loss	not provided	GUncertain significance
Select item 2684890	GRCh37/hg19 19q13.11(chr19:33301640-34007202)x3	CEBPA, CEBPG +9 more	Copy number gain	not provided	GUncertain significance
Select item 2684889	GRCh37/hg19 19q12-13.11(chr19:32052961-34144873)x3	ANKRD27, CEBPA +17 more	Copy number gain	not provided	GUncertain significance
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	ALKBH6, APLP1 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1526660	GRCh37/hg19 19q13.11(chr19:32827535-35263640)	ANKRD27, CEBPA +28 more	Copy number gain	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 1020169	NC_000019.9:g.(?_33532300)_(33793320_?)dup	CEBPA, GPATCH1 +4 more	Duplication	Acute myeloid leukemia	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic

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Items: 42