ClinVar for Gene (Select 55717) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3378060	NM_018117.12(WDR11):c.-4C>T	WDR11	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3376642	NM_018117.12(WDR11):c.1714G>A (p.Glu572Lys)	WDR11 (E572K)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 14 with or without anosmia	GUncertain significance
Select item 3371104	NM_018117.12(WDR11):c.515C>A (p.Ser172Ter)	WDR11 (S172*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3366149	NM_018117.12(WDR11):c.404T>A (p.Ile135Asn)	WDR11 (I135N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365466	NM_018117.12(WDR11):c.3027_3027+3delinsT	WDR11	Indel (splice donor variant)	not provided	GUncertain significance
Select item 3359598	NM_018117.12(WDR11):c.1370C>T (p.Thr457Met)	WDR11 (T457M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3354567	NM_018117.12(WDR11):c.943C>T (p.Arg315Cys)	WDR11 (R315C)	Single nucleotide variant (missense variant)	WDR11-related disorder	GUncertain significance
Select item 3353088	NM_018117.12(WDR11):c.1904G>A (p.Arg635Gln)	WDR11 (R635Q)	Single nucleotide variant (missense variant)	WDR11-related disorder	GUncertain significance
Select item 3345334	NM_018117.12(WDR11):c.3205T>G (p.Leu1069Val)	WDR11 (L1069V)	Single nucleotide variant (missense variant)	WDR11-related disorder	GUncertain significance
Select item 3339002	NM_018117.12(WDR11):c.1471+6T>C	WDR11	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3338568	NM_018117.12(WDR11):c.3141dup (p.Ser1048fs)	WDR11 (S1048fs)	Duplication (frameshift variant)	WDR11-related disorder	GLikely pathogenic
Select item 3332709	NM_018117.12(WDR11):c.1603T>A (p.Ser535Thr)	WDR11 (S535T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332708	NM_018117.12(WDR11):c.2005C>G (p.Leu669Val)	WDR11 (L669V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332707	NM_018117.12(WDR11):c.991C>A (p.Pro331Thr)	WDR11 (P331T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3332706	NM_018117.12(WDR11):c.2288A>G (p.Asn763Ser)	WDR11 (N763S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252755	NM_018117.12(WDR11):c.985G>A (p.Glu329Lys)	WDR11 (E329K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3244922	NC_000010.10:g.(?_122610933)_(124813281_?)dup	ACADSB, ARMS2 +16 more	Duplication	FGFR2-related craniosynostosis	GUncertain significance
Select item 3189837	NM_018117.12(WDR11):c.869C>A (p.Pro290Gln)	WDR11 (P290Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189836	NM_018117.12(WDR11):c.833C>T (p.Thr278Met)	WDR11 (T278M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189835	NM_018117.12(WDR11):c.770G>C (p.Arg257Thr)	WDR11 (R257T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189834	NM_018117.12(WDR11):c.344C>G (p.Pro115Arg)	WDR11 (P115R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189833	NM_018117.12(WDR11):c.3152A>G (p.Lys1051Arg)	WDR11 (K1051R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189832	NM_018117.12(WDR11):c.308G>A (p.Gly103Glu)	WDR11 (G103E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189831	NM_018117.12(WDR11):c.3002C>T (p.Thr1001Ile)	WDR11 (T1001I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189830	NM_018117.12(WDR11):c.2716G>A (p.Glu906Lys)	WDR11 (E906K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189829	NM_018117.12(WDR11):c.2410T>C (p.Cys804Arg)	WDR11 (C804R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189828	NM_018117.12(WDR11):c.1288A>G (p.Met430Val)	WDR11 (M430V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189827	NM_018117.12(WDR11):c.1226C>G (p.Ser409Cys)	WDR11 (S409C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
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 3061804	NM_018117.12(WDR11):c.3220_3223del (p.Asp1074fs)	WDR11 (D1074fs)	Microsatellite (frameshift variant)	Hypogonadotropic hypogonadism 14 with or without anosmia	GLikely pathogenic
Select item 3056425	NM_018117.12(WDR11):c.2046C>T (p.Thr682=)	WDR11	Single nucleotide variant (synonymous variant)	WDR11-related disorder	GLikely benign
Select item 3032312	NM_018117.12(WDR11):c.3258C>T (p.Tyr1086=)	WDR11	Single nucleotide variant (synonymous variant)	WDR11-related disorder	GLikely benign
Select item 3027358	NM_018117.12(WDR11):c.3173T>C (p.Ile1058Thr)	WDR11 (I1058T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023443	NM_018117.12(WDR11):c.3292-12C>T	WDR11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022569	NM_018117.12(WDR11):c.3292-11G>A	WDR11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3021769	NM_018117.12(WDR11):c.880-12A>G	WDR11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3020318	NM_018117.12(WDR11):c.2688-16C>T	WDR11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3009202	NM_018117.12(WDR11):c.2624+16T>C	WDR11	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2993789	NM_018117.12(WDR11):c.1739+21_1739+23del	WDR11	Deletion (intron variant)	not provided	GLikely benign
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 2986664	NM_018117.12(WDR11):c.2271T>C (p.Phe757=)	WDR11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984668	NM_018117.12(WDR11):c.2986C>A (p.His996Asn)	WDR11 (H996N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982464	NM_018117.12(WDR11):c.1497G>A (p.Val499=)	WDR11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2966233	NM_018117.12(WDR11):c.1138G>A (p.Val380Ile)	WDR11 (V380I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2962446	NM_018117.12(WDR11):c.2306T>G (p.Met769Arg)	WDR11 (M769R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958418	NM_018117.12(WDR11):c.1319A>T (p.Glu440Val)	WDR11 (E440V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2955003	NM_018117.12(WDR11):c.1472-18A>C	WDR11	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2908072	NM_018117.12(WDR11):c.2390G>A (p.Arg797His)	WDR11 (R797H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905259	NM_018117.12(WDR11):c.2793C>T (p.Val931=)	WDR11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901759	NM_018117.12(WDR11):c.2198A>G (p.Asn733Ser)	WDR11 (N733S)	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 2870333	NM_018117.12(WDR11):c.440A>G (p.Asp147Gly)	WDR11 (D147G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866482	NM_018117.12(WDR11):c.3537A>T (p.Ile1179=)	WDR11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854796	NM_018117.12(WDR11):c.1664-16A>G	WDR11	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2851895	NM_018117.12(WDR11):c.2867G>A (p.Arg956Gln)	WDR11 (R956Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2767311	NM_018117.12(WDR11):c.1563T>C (p.Ile521=)	WDR11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2728183	NM_018117.12(WDR11):c.3291A>G (p.Lys1097=)	WDR11	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2712695	NM_018117.12(WDR11):c.2104G>A (p.Ala702Thr)	WDR11 (A702T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696683	NM_018117.12(WDR11):c.2828A>T (p.Lys943Met)	WDR11 (K943M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684624	GRCh37/hg19 10q26.12(chr10:122658596-123040478)x3	WDR11	Copy number gain	not provided	GUncertain significance
Select item 2684623	GRCh37/hg19 10q26.12(chr10:122438141-122802506)x3	WDR11	Copy number gain	not provided	GUncertain significance
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2681644	NM_018117.12(WDR11):c.1704A>G (p.Glu568=)	WDR11	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
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 2672168	NM_018117.12(WDR11):c.3571G>A (p.Gly1191Ser)	WDR11 (G1191S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
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 2640883	NM_018117.12(WDR11):c.756C>A (p.Tyr252Ter)	WDR11 (Y252*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2637588	NM_018117.12(WDR11):c.2144G>C (p.Cys715Ser)	WDR11 (C715S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635649	NM_018117.12(WDR11):c.3607G>A (p.Ala1203Thr)	WDR11 (A1203T)	Single nucleotide variant (missense variant)	not specified +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 disorder	GUncertain significance
Select item 2631485	NM_018117.12(WDR11):c.352+1G>A	WDR11	Single nucleotide variant (splice donor variant)	WDR11-related disorder	GLikely pathogenic
Select item 2630475	NM_018117.12(WDR11):c.3331C>T (p.Arg1111Trp)	WDR11 (R1111W)	Single nucleotide variant (missense variant)	WDR11-related disorder	GUncertain significance
Select item 2621331	NM_018117.12(WDR11):c.2578T>A (p.Leu860Ile)	WDR11 (L860I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621030	NM_018117.12(WDR11):c.2026C>T (p.Arg676Trp)	WDR11 (R676W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608795	NM_018117.12(WDR11):c.1832C>T (p.Pro611Leu)	WDR11 (P611L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605314	NM_018117.12(WDR11):c.3488A>G (p.Tyr1163Cys)	WDR11 (Y1163C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2587927	NM_018117.12(WDR11):c.1649T>C (p.Val550Ala)	WDR11 (V550A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2585361	NM_018117.12(WDR11):c.2149G>A (p.Ala717Thr)	WDR11 (A717T)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 14 with or without anosmia	GUncertain significance
Select item 2584672	NM_018117.12(WDR11):c.3050T>A (p.Leu1017Gln)	WDR11 (L1017Q)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 14 with or without anosmia	GUncertain significance
Select item 2581999	NM_018117.12(WDR11):c.3209T>C (p.Leu1070Pro)	WDR11 (L1070P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2573939	NM_018117.12(WDR11):c.1952T>C (p.Ile651Thr)	WDR11 (I651T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2542822	NM_018117.12(WDR11):c.2390G>T (p.Arg797Leu)	WDR11 (R797L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2513739	NM_018117.12(WDR11):c.2426T>C (p.Val809Ala)	WDR11 (V809A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 2494630	NM_018117.12(WDR11):c.2139T>G (p.Ile713Met)	WDR11 (I713M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465489	NM_018117.12(WDR11):c.1756G>A (p.Val586Ile)	WDR11 (V586I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2380979	NM_018117.12(WDR11):c.2264T>C (p.Ile755Thr)	WDR11 (I755T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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