WDR11[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 409

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	LOC126861081, LOC126861082 +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	ABLIM1, ABRAXAS2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC130004745, LOC130004746 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	VAX1, VENTX +679 more	Copy number gain	See cases	GPathogenic
Select item 148437	GRCh38/hg38 10q25.2-26.12(chr10:112701186-120970617)x3	DCLRE1A, ABLIM1 +248 more	Copy number gain	See cases	GLikely pathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 57088	GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3	ATE1-AS1, BAG3 +119 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC126861096, LOC126861097 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	ABRAXAS2, ACADSB +418 more	Copy number loss	See cases	GPathogenic
Select item 1233113	NR_033850.1(WDR11-DT):n.301G>C	WDR11, WDR11-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1211816	NR_033850.1(WDR11-DT):n.262G>A	WDR11, WDR11-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1190555	NR_033850.1(WDR11-DT):n.56C>T	WDR11, WDR11-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1289331	NR_033850.1(WDR11-DT):n.53A>C	WDR11, WDR11-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1280580	NR_033850.1(WDR11-DT):n.46T>G	WDR11, WDR11-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1261778	NR_033850.1(WDR11-DT):n.35A>G	WDR11, WDR11-DT	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1232088	NC_000010.11:g.120851270A>G	WDR11	Single nucleotide variant	not provided	GBenign
Select item 1183546	NC_000010.11:g.120851275T>A	WDR11	Single nucleotide variant	not provided	GBenign
Select item 1259101	NC_000010.11:g.120851281C>T	WDR11	Single nucleotide variant	not provided	GBenign
Select item 1292815	NM_018117.12(WDR11):c.-6G>A	WDR11	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1177878	NM_018117.12(WDR11):c.-3G>A	WDR11	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1691181	NM_018117.12(WDR11):c.6G>T (p.Leu2Phe)	WDR11 (L2F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1490803	NM_018117.12(WDR11):c.7C>T (p.Pro3Ser)	WDR11 (P3S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2635621	NM_018117.12(WDR11):c.8C>T (p.Pro3Leu)	WDR11 (P3L)	Single nucleotide variant (missense variant)	WDR11-related condition	GUncertain significance
Select item 2071194	NM_018117.12(WDR11):c.8C>G (p.Pro3Arg)	WDR11 (P3R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1344755	NM_018117.12(WDR11):c.16G>A (p.Val6Met)	WDR11 (V6M)	Single nucleotide variant (missense variant)	Amenorrhea	GUncertain significance
Select item 2129311	NM_018117.12(WDR11):c.33G>C (p.Ser11=)	WDR11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1279300	NM_018117.12(WDR11):c.51G>T (p.Gly17=)	WDR11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2770853	NM_018117.12(WDR11):c.59A>G (p.Asn20Ser)	WDR11 (N20S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992175	NM_018117.12(WDR11):c.65A>C (p.His22Pro)	WDR11 (H22P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1337335	NM_018117.12(WDR11):c.76G>A (p.Ala26Thr)	WDR11 (A26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 797112	NM_018117.12(WDR11):c.86+8C>T	WDR11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219686	NM_018117.12(WDR11):c.86+28A>G	WDR11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196688	NM_018117.12(WDR11):c.86+143T>C	WDR11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287118	NM_018117.12(WDR11):c.87-264A>T	WDR11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2126770	NM_018117.12(WDR11):c.109T>C (p.Tyr37His)	WDR11 (Y37H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687367	NM_018117.12(WDR11):c.163dup (p.Gln55fs)	WDR11 (Q55fs)	Duplication (frameshift variant)	Hypogonadotropic hypogonadism 14 with or without anosmia	GLikely pathogenic
Select item 2733889	NM_018117.12(WDR11):c.172G>A (p.Glu58Lys)	WDR11 (E58K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1269938	NM_018117.12(WDR11):c.198+323G>A	WDR11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261179	NM_018117.12(WDR11):c.199-7G>C	WDR11	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 14 with or without anosmia +1 more	GBenign
Select item 2026962	NM_018117.12(WDR11):c.229A>G (p.Asn77Asp)	WDR11 (N77D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2234262	NM_018117.12(WDR11):c.254G>C (p.Arg85Pro)	WDR11 (R85P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 704337	NM_018117.12(WDR11):c.288C>T (p.Ile96=)	WDR11	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1935650	NM_018117.12(WDR11):c.289G>A (p.Val97Ile)	WDR11 (V97I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2245652	NM_018117.12(WDR11):c.346A>G (p.Ile116Val)	WDR11 (I116V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2631485	NM_018117.12(WDR11):c.352+1G>A	WDR11	Single nucleotide variant (splice donor variant)	WDR11-related condition	GLikely pathogenic
Select item 1179454	NM_018117.12(WDR11):c.352+253A>G	WDR11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280874	NM_018117.12(WDR11):c.352+271A>T	WDR11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292783	NM_018117.12(WDR11):c.353-154AC[10]	WDR11	Microsatellite (intron variant)	not provided	GBenign
Select item 1267767	NM_018117.12(WDR11):c.353-154AC[11]	WDR11	Microsatellite (intron variant)	not provided	GBenign
Select item 931103	NM_018117.12(WDR11):c.373C>T (p.Gln125Ter)	WDR11 (Q125*)	Single nucleotide variant (nonsense)	Hypogonadotropic hypogonadism 7 with or without anosmia	GUncertain significance
Select item 2369056	NM_018117.12(WDR11):c.394C>G (p.Leu132Val)	WDR11 (L132V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1979178	NM_018117.12(WDR11):c.403A>G (p.Ile135Val)	WDR11 (I135V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 704438	NM_018117.12(WDR11):c.411G>A (p.Pro137=)	WDR11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870333	NM_018117.12(WDR11):c.440A>G (p.Asp147Gly)	WDR11 (D147G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 773804	NM_018117.12(WDR11):c.456A>G (p.Leu152=)	WDR11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2244129	NM_018117.12(WDR11):c.466A>T (p.Ser156Cys)	WDR11 (S156C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 700847	NM_018117.12(WDR11):c.471T>C (p.Tyr157=)	WDR11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2530720	NM_018117.12(WDR11):c.476A>T (p.Asp159Val)	WDR11 (D159V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1305435	NM_018117.12(WDR11):c.488_491del (p.Ser163fs)	WDR11 (S163fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2662106	NM_018117.12(WDR11):c.498T>G (p.Phe166Leu)	WDR11 (F166L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1248496	NM_018117.12(WDR11):c.526+83C>T	WDR11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235394	NM_018117.12(WDR11):c.526+136G>A	WDR11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297174	NM_018117.12(WDR11):c.527-239T>C	WDR11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292819	NM_018117.12(WDR11):c.527-139C>A	WDR11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259724	NM_018117.12(WDR11):c.527-126A>C	WDR11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 702912	NM_018117.12(WDR11):c.537C>T (p.Ser179=)	WDR11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2312789	NM_018117.12(WDR11):c.542G>C (p.Gly181Ala)	WDR11 (G181A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1048865	NM_018117.12(WDR11):c.644T>C (p.Leu215Pro)	WDR11 (L215P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1206004	NM_018117.12(WDR11):c.673C>G (p.Leu225Val)	WDR11 (L225V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 703663	NM_018117.12(WDR11):c.708A>G (p.Lys236=)	WDR11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 753626	NM_018117.12(WDR11):c.713+9C>G	WDR11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263186	NM_018117.12(WDR11):c.714-289T>C	WDR11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1306670	NM_018117.12(WDR11):c.719A>G (p.Glu240Gly)	WDR11 (E240G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000720	NM_018117.12(WDR11):c.734A>G (p.Asn245Ser)	WDR11 (N245S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970674	NM_018117.12(WDR11):c.739T>G (p.Cys247Gly)	WDR11 (C247G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 724680	NM_018117.12(WDR11):c.748T>C (p.Leu250=)	WDR11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2640883	NM_018117.12(WDR11):c.756C>A (p.Tyr252Ter)	WDR11 (Y252*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 704169	NM_018117.12(WDR11):c.771G>A (p.Arg257=)	WDR11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 702834	NM_018117.12(WDR11):c.789C>A (p.Leu263=)	WDR11	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 981883	NM_018117.12(WDR11):c.797G>C (p.Arg266Pro)	WDR11 (R266P)	Single nucleotide variant (missense variant)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1231978	NM_018117.12(WDR11):c.834G>A (p.Thr278=)	WDR11	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1939579	NM_018117.12(WDR11):c.849A>G (p.Ala283=)	WDR11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2287510	NM_018117.12(WDR11):c.857G>A (p.Arg286His)	WDR11 (R286H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062082	NM_018117.12(WDR11):c.859A>G (p.Thr287Ala)	WDR11 (T287A)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 14 with or without anosmia	GUncertain significance
Select item 2398376	NM_018117.12(WDR11):c.877C>G (p.Gln293Glu)	WDR11 (Q293E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1321662	NM_018117.12(WDR11):c.879+153dup	WDR11	Duplication (intron variant)	not provided	GBenign
Select item 1227965	NM_018117.12(WDR11):c.880-107A>G	WDR11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3021769	NM_018117.12(WDR11):c.880-12A>G	WDR11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2957788	NM_018117.12(WDR11):c.899G>A (p.Arg300His)	WDR11 (R300H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1304894	NM_018117.12(WDR11):c.908T>C (p.Leu303Ser)	WDR11 (L303S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890996	NM_018117.12(WDR11):c.919C>T (p.His307Tyr)	WDR11 (H307Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672169	NM_018117.12(WDR11):c.926A>G (p.Asn309Ser)	WDR11 (N309S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1292030	NM_018117.12(WDR11):c.994+261T>C	WDR11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196131	NM_018117.12(WDR11):c.995-242A>G	WDR11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287022	NM_018117.12(WDR11):c.995-209_995-207del	WDR11	Microsatellite (intron variant)	not provided	GBenign
Select item 1292779	NM_018117.12(WDR11):c.995-43C>T	WDR11	Single nucleotide variant (intron variant)	Hypogonadotropic hypogonadism 14 with or without anosmia +1 more	GBenign
Select item 1210470	NM_018117.12(WDR11):c.995-35C>T	WDR11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 450239	NM_018117.12(WDR11):c.1060A>G (p.Lys354Glu)	WDR11 (K354E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 695236	NM_018117.12(WDR11):c.1066G>A (p.Val356Ile)	WDR11 (V356I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1895464	NM_018117.12(WDR11):c.1079G>A (p.Ser360Asn)	WDR11 (S360N)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 14 with or without anosmia	GUncertain significance

<< First< Prev

Page of 5