"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "WDR81"[ - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 745903	NM_001163809.2(WDR81):c.141G>C (p.Pro47=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 783746	NM_001163809.2(WDR81):c.270C>T (p.Leu90=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 718887	NM_001163809.2(WDR81):c.328C>T (p.Leu110=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 736141	NM_001163809.2(WDR81):c.504C>G (p.Pro168=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 732182	NM_001163809.2(WDR81):c.626C>A (p.Pro209His)	WDR81 (P209H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 746172	NM_001163809.2(WDR81):c.1044C>T (p.Leu348=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 751579	NM_001163809.2(WDR81):c.1140C>T (p.His380=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 725692	NM_001163809.2(WDR81):c.1179T>C (p.His393=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 757492	NM_001163809.2(WDR81):c.1338C>T (p.Ser446=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 708198	NM_001163809.2(WDR81):c.1392C>T (p.Cys464=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 712116	NM_001163809.2(WDR81):c.1407G>A (p.Ala469=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 733380	NM_001163809.2(WDR81):c.1604G>A (p.Arg535His)	WDR81 (R535H)	Single nucleotide variant (missense variant +1 more)	Hydrocephalus, congenital, 3, with brain anomalies +3 more	GLikely benign
Select item 2070117	NM_001163809.2(WDR81):c.1666A>T (p.Lys556Ter)	WDR81 (K556*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 730419	NM_001163809.2(WDR81):c.1722C>T (p.His574=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 751823	NM_001163809.2(WDR81):c.1728C>T (p.Ala576=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 713768	NM_001163809.2(WDR81):c.1734C>T (p.Tyr578=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 723697	NM_001163809.2(WDR81):c.1868C>T (p.Thr623Met)	WDR81 (T623M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 377023	NM_001163809.2(WDR81):c.1877C>T (p.Pro626Leu)	WDR81 (P626L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 777084	NM_001163809.2(WDR81):c.1878G>A (p.Pro626=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 730347	NM_001163809.2(WDR81):c.1971C>T (p.Asp657=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 738782	NM_001163809.2(WDR81):c.2016T>C (p.Ala672=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 781245	NM_001163809.2(WDR81):c.2064A>C (p.Gly688=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 734274	NM_001163809.2(WDR81):c.2136G>A (p.Gly712=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 738029	NM_001163809.2(WDR81):c.2166C>T (p.Pro722=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 725089	NM_001163809.2(WDR81):c.2233C>T (p.Leu745=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 762963	NM_001163809.2(WDR81):c.2244G>T (p.Leu748=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 708421	NM_001163809.2(WDR81):c.2254C>T (p.Pro752Ser)	WDR81 (P752S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 596300	NM_001163809.2(WDR81):c.2266C>T (p.Arg756Trp)	WDR81 (R756W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 750445	NM_001163809.2(WDR81):c.2304C>T (p.His768=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	Hydrocephalus, congenital, 3, with brain anomalies +2 more	GLikely benign
Select item 764391	NM_001163809.2(WDR81):c.2367G>A (p.Thr789=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 723207	NM_001163809.2(WDR81):c.2424G>A (p.Thr808=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 752745	NM_001163809.2(WDR81):c.2442C>T (p.Val814=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 743143	NM_001163809.2(WDR81):c.2655C>G (p.Leu885=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 709314	NM_001163809.2(WDR81):c.2658G>T (p.Leu886=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 718361	NM_001163809.2(WDR81):c.2697C>T (p.Arg899=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 708898	NM_001163809.2(WDR81):c.2773C>T (p.Leu925=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 748857	NM_001163809.2(WDR81):c.2799C>G (p.Ser933=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 734275	NM_001163809.2(WDR81):c.2871T>C (p.Asn957=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 736592	NM_001163809.2(WDR81):c.2895G>A (p.Pro965=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 786299	NM_001163809.2(WDR81):c.3112G>A (p.Gly1038Arg)	WDR81 (G1038R)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign/Likely benign
Select item 745093	NM_001163809.2(WDR81):c.3345C>T (p.Ser1115=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 711526	NM_001163809.2(WDR81):c.3528C>T (p.Thr1176=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 235691	NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr)	WDR81 (A1178T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 734347	NM_001163809.2(WDR81):c.3588C>T (p.Gly1196=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 721457	NM_001163809.2(WDR81):c.3668-6C>T	WDR81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 754127	NM_001163809.2(WDR81):c.3688C>T (p.Arg1230Cys)	WDR81 (R1230C +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 750421	NM_001163809.2(WDR81):c.3771T>C (p.Tyr1257=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727424	NM_001163809.2(WDR81):c.3775+9G>T	WDR81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 752007	NM_001163809.2(WDR81):c.3822G>A (p.Pro1274=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730142	NM_001163809.2(WDR81):c.3832G>A (p.Gly1278Ser)	WDR81 (G75S +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 792897	NM_001163809.2(WDR81):c.4041G>A (p.Thr1347=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 794228	NM_001163809.2(WDR81):c.4080A>G (p.Thr1360=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 724930	NM_001163809.2(WDR81):c.4101G>A (p.Arg1367=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 791409	NM_001163809.2(WDR81):c.4125C>T (p.Pro1375=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727138	NM_001163809.2(WDR81):c.4155G>A (p.Thr1385=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734276	NM_001163809.2(WDR81):c.4324-8G>A	WDR81	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 734563	NM_001163809.2(WDR81):c.4422C>T (p.Asp1474=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 745554	NM_001163809.2(WDR81):c.4444C>T (p.Leu1482=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741172	NM_001163809.2(WDR81):c.4602C>T (p.Thr1534=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 764250	NM_001163809.2(WDR81):c.4608C>T (p.Pro1536=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732387	NM_001163809.2(WDR81):c.4737C>T (p.Pro1579=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 737433	NM_001163809.2(WDR81):c.4762G>C (p.Val1588Leu)	WDR81 (V1588L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 777085	NM_001163809.2(WDR81):c.4833C>T (p.His1611=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727601	NM_001163809.2(WDR81):c.4842C>T (p.Ser1614=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774343	NM_001163809.2(WDR81):c.4843G>A (p.Gly1615Arg)	WDR81 (G388R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 721956	NM_001163809.2(WDR81):c.4857G>A (p.Ala1619=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723263	NM_001163809.2(WDR81):c.4869C>T (p.Tyr1623=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 746255	NM_001163809.2(WDR81):c.4875C>T (p.Ile1625=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725470	NM_001163809.2(WDR81):c.5040C>T (p.Tyr1680=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727558	NM_001163809.2(WDR81):c.5103C>T (p.Phe1701=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730971	NM_001163809.2(WDR81):c.5106C>T (p.Phe1702=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 493202	NM_001163809.2(WDR81):c.5118T>C (p.Leu1706=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 669874	NM_001163809.2(WDR81):c.5161G>A (p.Val1721Ile)	WDR81 (V494I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 738586	NM_001163809.2(WDR81):c.5205G>A (p.Pro1735=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 493203	NM_001163809.2(WDR81):c.5231C>T (p.Ala1744Val)	WDR81 (A541V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 750752	NM_001163809.2(WDR81):c.5238T>C (p.Ala1746=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751848	NM_001163809.2(WDR81):c.5247C>T (p.Pro1749=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 377010	NM_001163809.2(WDR81):c.5325+6G>C	WDR81	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 746208	NM_001163809.2(WDR81):c.5403C>T (p.Val1801=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753615	NM_001163809.2(WDR81):c.5506-8C>T	WDR81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 748760	NM_001163809.2(WDR81):c.5506-7G>A	WDR81	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 745776	NM_001163809.2(WDR81):c.5607C>T (p.Ser1869=)	WDR81	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 755548	NM_001163809.2(WDR81):c.5655C>T (p.Gly1885=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 716293	NM_001163809.2(WDR81):c.5685C>T (p.Ser1895=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732388	NM_001163809.2(WDR81):c.5703G>A (p.Ser1901=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 718882	NM_001163809.2(WDR81):c.5760C>T (p.Ala1920=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713795	NM_001163809.2(WDR81):c.5802C>T (p.Asn1934=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 2445502	NC_000017.10:g.(?_422368)_(2585096_?)dup	ABR, BHLHA9 +37 more	Duplication	not provided	GUncertain significance
Select item 2445495	NC_000017.10:g.(?_422368)_(1945151_?)del	ABR, BHLHA9 +26 more	Deletion	not provided	GPathogenic
Select item 2425641	NC_000017.10:g.(?_422368)_(1680740_?)del	ABR, BHLHA9 +22 more	Deletion	not provided	GUncertain significance
Select item 2425596	NC_000017.10:g.(?_1554096)_(1680740_?)del	MIR22, PRPF8 +4 more	Deletion	not provided	GUncertain significance
Select item 2423901	NC_000017.10:g.(?_1478898)_(1642177_?)del	MIR22, PRPF8 +5 more	Deletion	not provided	GPathogenic
Select item 1400855	NC_000017.10:g.(?_725577)_(1680740_?)dup	ABR, BHLHA9 +17 more	Duplication	not provided	GUncertain significance

ClinVar

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Items: 94