"GeneDx"[submitter] AND "WDR81"[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 1687637	NM_001163809.2(WDR81):c.218del (p.Leu73fs)	WDR81 (L73fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3366210	NM_001163809.2(WDR81):c.554A>G (p.Tyr185Cys)	WDR81 (Y185C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1326695	NM_001163809.2(WDR81):c.796C>T (p.Arg266Cys)	WDR81 (R266C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 504293	NM_001163809.2(WDR81):c.826_827delinsT (p.Arg276fs)	WDR81 (R276fs)	Indel (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1312005	NM_001163809.2(WDR81):c.827G>T (p.Arg276Leu)	WDR81 (R276L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 596303	NM_001163809.2(WDR81):c.1045G>C (p.Val349Leu)	WDR81 (V349L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1190382	NM_001163809.2(WDR81):c.1115G>A (p.Arg372Gln)	WDR81 (R372Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2506741	NM_001163809.2(WDR81):c.1276G>A (p.Ala426Thr)	WDR81 (A426T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 432483	NM_001163809.2(WDR81):c.1286C>T (p.Ala429Val)	WDR81 (A429V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2351880	NM_001163809.2(WDR81):c.1291G>A (p.Gly431Ser)	WDR81 (G431S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1304926	NM_001163809.2(WDR81):c.1307A>C (p.His436Pro)	WDR81 (H436P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 620447	NM_001163809.2(WDR81):c.1423G>T (p.Glu475Ter)	WDR81 (E475*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 392796	NM_001163809.2(WDR81):c.1564C>T (p.Gln522Ter)	WDR81 (Q522*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 3343669	NM_001163809.2(WDR81):c.1615C>T (p.Arg539Trp)	WDR81 (R539W)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 3368698	NM_001163809.2(WDR81):c.1616G>A (p.Arg539Gln)	WDR81 (R539Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 130733	NM_001163809.2(WDR81):c.1716C>T (p.His572=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3252613	NM_001163809.2(WDR81):c.1734C>G (p.Tyr578Ter)	WDR81 (Y578*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 452862	NM_001163809.2(WDR81):c.1991A>C (p.Glu664Ala)	WDR81 (E664A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2228135	NM_001163809.2(WDR81):c.2036T>C (p.Leu679Pro)	WDR81 (L679P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1031890	NM_001163809.2(WDR81):c.2051A>G (p.Gln684Arg)	WDR81 (Q684R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1702659	NM_001163809.2(WDR81):c.2074_2077del (p.Phe692fs)	WDR81 (F692fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 1703352	NM_001163809.2(WDR81):c.2269G>A (p.Val757Ile)	WDR81 (V757I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1810677	NM_001163809.2(WDR81):c.2282T>C (p.Val761Ala)	WDR81 (V761A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3340764	NM_001163809.2(WDR81):c.2292_2309del (p.Gln764_Asp770delinsHis)	WDR81	Deletion (inframe_indel +1 more)	not provided	GLikely pathogenic
Select item 130736	NM_001163809.2(WDR81):c.2331A>G (p.Leu777=)	WDR81	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3239119	NM_001163809.2(WDR81):c.2362C>T (p.Arg788Trp)	WDR81 (R788W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 31611	NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu)	WDR81 (P856L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2260609	NM_001163809.2(WDR81):c.2633C>T (p.Pro878Leu)	WDR81 (P878L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1700900	NM_001163809.2(WDR81):c.2836_2839del (p.Phe946fs)	WDR81 (F946fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2499367	NM_001163809.2(WDR81):c.2869A>T (p.Asn957Tyr)	WDR81 (N957Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2600384	NM_001163809.2(WDR81):c.3040G>T (p.Gly1014Cys)	WDR81 (G1014C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2581942	NM_001163809.2(WDR81):c.3043G>A (p.Ala1015Thr)	WDR81 (A1015T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2500447	NM_001163809.2(WDR81):c.3211G>A (p.Val1071Ile)	WDR81 (V1071I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 235691	NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr)	WDR81 (A1178T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1703451	NM_001163809.2(WDR81):c.3557C>T (p.Thr1186Met)	WDR81 (T1186M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 423034	NM_001163809.2(WDR81):c.3557del (p.Thr1186fs)	WDR81 (T1186fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3332955	NM_001163809.2(WDR81):c.3709G>A (p.Gly1237Ser)	WDR81 (G10S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2502061	NM_001163809.2(WDR81):c.3740G>A (p.Arg1247Gln)	WDR81 (R1247Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1195085	NM_001163809.2(WDR81):c.3823C>A (p.Leu1275Met)	WDR81 (L1275M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 130738	NM_001163809.2(WDR81):c.3831C>T (p.Ala1277=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 224836	NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter)	WDR81 (R1333* +3 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 1712782	NM_001163809.2(WDR81):c.4100G>A (p.Arg1367Gln)	WDR81 (R1367Q +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1267390	NM_001163809.2(WDR81):c.4158-5T>C	WDR81	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203734	NM_001163809.2(WDR81):c.4208G>A (p.Ser1403Asn)	WDR81 (S1403N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808188	NM_001163809.2(WDR81):c.4315C>T (p.Arg1439Trp)	WDR81 (R388W +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1315279	NM_001163809.2(WDR81):c.4336G>A (p.Asp1446Asn)	WDR81 (D1446N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1810591	NM_001163809.2(WDR81):c.4397G>A (p.Arg1466Gln)	WDR81 (R239Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1326686	NM_001163809.2(WDR81):c.4502G>A (p.Arg1501Gln)	WDR81 (R1501Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1190423	NM_001163809.2(WDR81):c.4541C>T (p.Ala1514Val)	WDR81 (A1514V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2277834	NM_001163809.2(WDR81):c.4544C>T (p.Ala1515Val)	WDR81 (A464V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1236279	NM_001163809.2(WDR81):c.4619C>A (p.Pro1540His)	WDR81 (P1540H +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1315280	NM_001163809.2(WDR81):c.4757C>T (p.Ser1586Leu)	WDR81 (S1586L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206585	NM_001163809.2(WDR81):c.4795G>A (p.Asp1599Asn)	WDR81 (D1599N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 452863	NM_001163809.2(WDR81):c.4870G>A (p.Glu1624Lys)	WDR81 (E1624K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 130741	NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=)	WDR81	Single nucleotide variant (synonymous variant)	Hydrocephalus, congenital, 3, with brain anomalies +2 more	GBenign
Select item 1312006	NM_001163809.2(WDR81):c.5089C>T (p.Arg1697Cys)	WDR81 (R1697C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2663364	NM_001163809.2(WDR81):c.5325+5G>A	WDR81	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 984714	NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter)	WDR81 (R1779* +3 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 3372181	NM_001163809.2(WDR81):c.5395C>T (p.Arg1799Cys)	WDR81 (R1799C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 130744	NM_001163809.2(WDR81):c.5451A>G (p.Thr1817=)	WDR81	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2582093	NM_001163809.2(WDR81):c.5484G>T (p.Glu1828Asp)	WDR81 (E1828D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1185334	NM_001163809.2(WDR81):c.5506-19C>G	WDR81	Single nucleotide variant (intron variant)	Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 2 +2 more	GBenign
Select item 130745	NM_001163809.2(WDR81):c.5556C>T (p.Thr1852=)	WDR81	Single nucleotide variant (synonymous variant)	Hydrocephalus, congenital, 3, with brain anomalies +2 more	GBenign
Select item 130746	NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=)	WDR81	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2506718	NM_001163809.2(WDR81):c.5743A>C (p.Thr1915Pro)	WDR81 (T1915P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699631	NM_001163809.2(WDR81):c.5813G>A (p.Arg1938His)	WDR81 (R1938H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253733	GRCh37/hg19 17p13.3(chr17:1409783-1857577)x1	INPP5K, MIR22 +12 more	Copy number loss	See cases	GUncertain significance
Select item 253507	GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3	ABR, ASPA +60 more	Copy number gain	See cases	GPathogenic
Select item 253440	GRCh37/hg19 17p13.3(chr17:1218064-2619473)x1	MIR212, SCARF1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253349	GRCh37/hg19 17p13.3(chr17:961016-1641881)x3	ABR, BHLHA9 +13 more	Copy number gain	See cases	GLikely pathogenic

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Items: 74