WDR77[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60007	GRCh38/hg38 1p21.2-13.2(chr1:101618097-111703028)x1	ELAPOR1, EPS8L3 +276 more	Copy number loss	See cases	GPathogenic
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 154693	GRCh38/hg38 1p21.1-13.2(chr1:105468292-112190626)x1	ADORA3, AHCYL1 +274 more	Copy number loss	See cases	GPathogenic
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 3332949	NM_024102.4(WDR77):c.992C>T (p.Pro331Leu)	WDR77 (P331L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394625	NM_024102.4(WDR77):c.976G>A (p.Val326Ile)	WDR77 (V324I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2509817	NM_024102.4(WDR77):c.865G>C (p.Glu289Gln)	WDR77 (E301Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546853	NM_024102.4(WDR77):c.811C>G (p.Leu271Val)	WDR77 (L271V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2470687	NM_024102.4(WDR77):c.796C>T (p.His266Tyr)	WDR77 (H202Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607676	NM_024102.4(WDR77):c.742G>A (p.Val248Ile)	WDR77 (V248I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407374	NM_024102.4(WDR77):c.709G>A (p.Val237Ile)	WDR77 (V237I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638993	NM_024102.4(WDR77):c.630G>T (p.Ala210=)	WDR77	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3332947	NM_024102.4(WDR77):c.629C>T (p.Ala210Val)	WDR77 (A146V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309513	NM_024102.4(WDR77):c.544G>A (p.Val182Met)	WDR77 (V182M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273034	NM_024102.4(WDR77):c.472G>T (p.Val158Leu)	WDR77 (V158L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2488224	NM_024102.4(WDR77):c.379A>G (p.Ile127Val)	WDR77 (I127V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374788	NM_024102.4(WDR77):c.322C>G (p.Leu108Val)	WDR77 (L108V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638994	NM_024102.4(WDR77):c.226G>C (p.Gly76Arg)	WDR77 (G76R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2299361	NM_024102.4(WDR77):c.205A>G (p.Asn69Asp)	WDR77 (N69D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3190258	NM_024102.4(WDR77):c.26T>G (p.Leu9Arg)	WDR77 (L9R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3332948	NM_024102.4(WDR77):c.23C>T (p.Pro8Leu)	WDR77 (P8L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063454	GRCh37/hg19 1p13.3-13.2(chr1:109700156-112176616)x1	ADORA3, AHCYL1 +48 more	Copy number loss	not specified	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2685555	GRCh37/hg19 1p13.3-13.2(chr1:109483388-112293512)x1	ADORA3, AHCYL1 +54 more	Copy number loss	not provided	GPathogenic
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	not provided	GPathogenic
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 688916	GRCh37/hg19 1p13.3-13.2(chr1:110994179-112360446)x1	ADORA3, ATP5PB +19 more	Copy number loss	not provided	GPathogenic
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 32