ClinVar for Gene (Select 7486) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3348922	NM_000553.6(WRN):c.944T>C (p.Leu315Ser)	WRN (L315S)	Single nucleotide variant (missense variant)	WRN-related disorder	GUncertain significance
Select item 3339845	NM_000553.6(WRN):c.1981+6T>C	WRN	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3333260	NM_000553.6(WRN):c.79G>T (p.Ala27Ser)	WRN (A27S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3333258	NM_000553.6(WRN):c.3209G>T (p.Cys1070Phe)	WRN (C1070F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245426	NC_000008.10:g.(?_30981889)_(30989970_?)del	WRN	Deletion	Werner syndrome	GLikely pathogenic
Select item 3245425	NC_000008.10:g.(?_30969285)_(30975255_?)del	WRN	Deletion	Werner syndrome	GLikely pathogenic
Select item 3245424	NC_000008.10:g.(?_31012248)_(31013983_?)del	WRN	Deletion	Werner syndrome	GLikely pathogenic
Select item 3245423	NC_000008.10:g.(?_30989976)_(30998629_?)del	WRN	Deletion	Werner syndrome	GLikely pathogenic
Select item 3245422	NC_000008.10:g.(?_30938373)_(30974054_?)del	WRN	Deletion	Werner syndrome	GPathogenic
Select item 3245421	NC_000008.10:g.(?_30938363)_(30941305_?)del	WRN	Deletion	Werner syndrome	GPathogenic
Select item 3245420	NC_000008.10:g.(?_30924539)_(30925853_?)del	WRN	Deletion	Werner syndrome	GPathogenic
Select item 3245419	NC_000008.10:g.(?_31007847)_(31012281_?)del	WRN	Deletion	Werner syndrome	GPathogenic
Select item 3245418	NC_000008.10:g.(?_30982018)_(30990042_?)del	WRN	Deletion	Werner syndrome	GPathogenic
Select item 3245417	NC_000008.10:g.(?_30941205)_(30946501_?)del	WRN	Deletion	Werner syndrome	GPathogenic
Select item 3240739	NM_000553.6(WRN):c.1175del (p.Cys391_Leu392insTer)	WRN	Deletion (nonsense)	Werner syndrome	GLikely pathogenic
Select item 3240738	NM_000553.6(WRN):c.2449-3_2449-2del	WRN	Deletion (splice acceptor variant)	Werner syndrome	GLikely pathogenic
Select item 3240737	NM_000553.6(WRN):c.3983-2A>G	WRN	Single nucleotide variant (splice acceptor variant)	Werner syndrome	GLikely pathogenic
Select item 3240736	NM_000553.6(WRN):c.2118_2119del (p.Ser707fs)	WRN (S707fs)	Deletion (frameshift variant)	Werner syndrome	GLikely pathogenic
Select item 3240735	NM_000553.6(WRN):c.3319del (p.Glu1107fs)	WRN (E1107fs)	Deletion (frameshift variant)	Werner syndrome	GLikely pathogenic
Select item 3240734	NM_000553.6(WRN):c.209+2_209+7delinsAA	WRN	Indel (splice donor variant)	Werner syndrome	GLikely pathogenic
Select item 3240733	NM_000553.6(WRN):c.1362del (p.Asn455fs)	WRN (N455fs)	Deletion (frameshift variant)	Werner syndrome	GLikely pathogenic
Select item 3240732	NM_000553.6(WRN):c.1511del (p.Pro504fs)	WRN (P504fs)	Deletion (frameshift variant)	Werner syndrome	GLikely pathogenic
Select item 3240731	NM_000553.6(WRN):c.2872del (p.Asp958fs)	WRN (D958fs)	Deletion (frameshift variant)	Werner syndrome	GLikely pathogenic
Select item 3240730	NM_000553.6(WRN):c.3749dup (p.Asn1250fs)	WRN (N1250fs)	Duplication (frameshift variant)	Werner syndrome	GPathogenic
Select item 3240729	NM_000553.6(WRN):c.34C>T (p.Gln12Ter)	WRN (Q12*)	Single nucleotide variant (nonsense)	Werner syndrome	GLikely pathogenic
Select item 3240728	NM_000553.6(WRN):c.2164_2171del (p.Asn722fs)	WRN (N722fs)	Deletion (frameshift variant)	Werner syndrome	GLikely pathogenic
Select item 3190780	NM_000553.6(WRN):c.786G>A (p.Met262Ile)	WRN (M262I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190779	NM_000553.6(WRN):c.3142A>G (p.Arg1048Gly)	WRN (R1048G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190777	NM_000553.6(WRN):c.1751C>T (p.Pro584Leu)	WRN (P584L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3190776	NM_000553.6(WRN):c.1115A>C (p.Asp372Ala)	WRN (D372A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065441	NM_000553.6(WRN):c.1720+1G>C	WRN	Single nucleotide variant (splice donor variant)	Werner syndrome	GLikely pathogenic
Select item 3063038	GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3	ADAM18, ADAM2 +150 more	Copy number gain	not specified	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3063005	GRCh37/hg19 8p12(chr8:30398461-30957178)x1	GSR, GTF2E2 +7 more	Copy number loss	not specified	GUncertain significance
Select item 3047140	NM_000553.6(WRN):c.3573-31TTG[8]	WRN	Microsatellite (intron variant)	WRN-related disorder	GLikely benign
Select item 3045222	NM_000553.6(WRN):c.3573-31TTG[6]	WRN	Microsatellite (intron variant)	WRN-related disorder	GLikely benign
Select item 3026158	NM_000553.6(WRN):c.3282A>T (p.Val1094=)	WRN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024018	NM_000553.6(WRN):c.3692A>G (p.Asp1231Gly)	WRN (D1231G)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 3022980	NM_000553.6(WRN):c.4113_4114dup (p.Arg1372fs)	WRN (R1372fs)	Duplication (frameshift variant)	Werner syndrome	GUncertain significance
Select item 3021958	NM_000553.6(WRN):c.3857C>A (p.Thr1286Lys)	WRN (T1286K)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 3021114	NM_000553.6(WRN):c.2667A>G (p.Arg889=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 3019798	NM_000553.6(WRN):c.205A>G (p.Ile69Val)	WRN (I69V)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 3019263	NM_000553.6(WRN):c.3411T>A (p.Ala1137=)	WRN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3018507	NM_000553.6(WRN):c.3459+19G>A	WRN	Single nucleotide variant (intron variant)	Werner syndrome	GLikely benign
Select item 3018401	NM_000553.6(WRN):c.4143C>G (p.Ile1381Met)	WRN (I1381M)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 3017427	NM_000553.6(WRN):c.877T>C (p.Tyr293His)	WRN (Y293H)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 3014582	NM_000553.6(WRN):c.802C>A (p.Leu268Ile)	WRN (L268I)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 3013294	NM_000553.6(WRN):c.2449-9T>C	WRN	Single nucleotide variant (intron variant)	Werner syndrome	GUncertain significance
Select item 3012245	NM_000553.6(WRN):c.1146del (p.Lys382fs)	WRN (K382fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic
Select item 3011881	NM_000553.6(WRN):c.2313T>G (p.Cys771Trp)	WRN (C771W)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 3011097	NM_000553.6(WRN):c.2967+7A>G	WRN	Single nucleotide variant (intron variant)	Werner syndrome	GLikely benign
Select item 3010831	NM_000553.6(WRN):c.564G>A (p.Gln188=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 3009923	NM_000553.6(WRN):c.2314C>T (p.Pro772Ser)	WRN (P772S)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 3008647	NM_000553.6(WRN):c.2031G>C (p.Gly677=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 3008320	NM_000553.6(WRN):c.3968C>G (p.Pro1323Arg)	WRN (P1323R)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 3008115	NM_000553.6(WRN):c.3384-17T>G	WRN	Single nucleotide variant (intron variant)	Werner syndrome	GLikely benign
Select item 3007987	NM_000553.6(WRN):c.3178A>G (p.Ser1060Gly)	WRN (S1060G)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 3005890	NM_000553.6(WRN):c.2019T>C (p.Ile673=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 3004969	NM_000553.6(WRN):c.654+14G>A	WRN	Single nucleotide variant (intron variant)	Werner syndrome	GLikely benign
Select item 3002790	NM_000553.6(WRN):c.1074T>C (p.Asp358=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 3002539	NM_000553.6(WRN):c.645T>A (p.Thr215=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 3002325	NM_000553.6(WRN):c.3163A>C (p.Asn1055His)	WRN (N1055H)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 3002111	NM_000553.6(WRN):c.3598A>T (p.Arg1200Trp)	WRN (R1200W)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 3001883	NM_000553.6(WRN):c.2736C>T (p.Ile912=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GUncertain significance
Select item 3000362	NM_000553.6(WRN):c.3983-6T>G	WRN	Single nucleotide variant (intron variant)	Werner syndrome	GUncertain significance
Select item 2998920	NM_000553.6(WRN):c.1033G>A (p.Glu345Lys)	WRN (E345K)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2998318	NM_000553.6(WRN):c.2273+19A>T	WRN	Single nucleotide variant (intron variant)	Werner syndrome	GLikely benign
Select item 2996963	NM_000553.6(WRN):c.3108A>G (p.Lys1036=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 2996519	NM_000553.6(WRN):c.585C>T (p.Ile195=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 2996216	NM_000553.6(WRN):c.2261T>C (p.Leu754Pro)	WRN (L754P)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2995934	NM_000553.6(WRN):c.1338G>A (p.Met446Ile)	WRN (M446I)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2995532	NM_000553.6(WRN):c.3101A>G (p.Tyr1034Cys)	WRN (Y1034C)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2994669	NM_000553.6(WRN):c.3139-4A>G	WRN	Single nucleotide variant (intron variant)	Werner syndrome	GUncertain significance
Select item 2994196	NM_000553.6(WRN):c.505-20T>G	WRN	Single nucleotide variant (intron variant)	Werner syndrome	GLikely benign
Select item 2993000	NM_000553.6(WRN):c.2825+15T>C	WRN	Single nucleotide variant (intron variant)	Werner syndrome	GLikely benign
Select item 2992178	NM_000553.6(WRN):c.2732+11T>C	WRN	Single nucleotide variant (intron variant)	Werner syndrome	GLikely benign
Select item 2992110	NM_000553.6(WRN):c.249G>A (p.Met83Ile)	WRN (M83I)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2988817	NM_000553.6(WRN):c.1022A>G (p.His341Arg)	WRN (H341R)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2988566	NM_000553.6(WRN):c.3820-11T>C	WRN	Single nucleotide variant (intron variant)	Werner syndrome	GLikely benign
Select item 2987418	NM_000553.6(WRN):c.2066C>T (p.Ser689Phe)	WRN (S689F)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2985864	NM_000553.6(WRN):c.3766T>C (p.Ser1256Pro)	WRN (S1256P)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2985720	NM_000553.6(WRN):c.2526T>A (p.Pro842=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 2984496	NM_000553.6(WRN):c.3459+20G>C	WRN	Single nucleotide variant (intron variant)	Werner syndrome	GLikely benign
Select item 2984206	NM_000553.6(WRN):c.1131A>G (p.Gly377=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 2981451	NM_000553.6(WRN):c.2548C>G (p.Gln850Glu)	WRN (Q850E)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2979966	NM_000553.6(WRN):c.764C>G (p.Thr255Ser)	WRN (T255S)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2978763	NM_000553.6(WRN):c.4196C>T (p.Ser1399Leu)	LOC126860342, WRN (S1399L)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2978732	NM_000553.6(WRN):c.1981+20C>A	WRN	Single nucleotide variant (intron variant)	Werner syndrome	GLikely benign
Select item 2975562	NM_000553.6(WRN):c.1897T>C (p.Leu633=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GUncertain significance
Select item 2975045	NM_000553.6(WRN):c.707G>C (p.Arg236Thr)	WRN (R236T)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2975029	NM_000553.6(WRN):c.2521G>C (p.Ala841Pro)	WRN (A841P)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2974881	NM_000553.6(WRN):c.1867_1868del (p.Gln623fs)	WRN (Q623fs)	Microsatellite (frameshift variant)	Werner syndrome	GPathogenic
Select item 2974334	NM_000553.6(WRN):c.3466T>C (p.Leu1156=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 2972679	NM_000553.6(WRN):c.1652+9_1652+11del	WRN	Deletion (intron variant)	Werner syndrome	GLikely benign
Select item 2972551	NM_000553.6(WRN):c.3460-17_3460-14del	WRN	Deletion (intron variant)	Werner syndrome	GLikely benign
Select item 2972192	NM_000553.6(WRN):c.3707C>T (p.Thr1236Ile)	WRN (T1236I)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2971073	NM_000553.6(WRN):c.823T>C (p.Leu275=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 2968436	NM_000553.6(WRN):c.2613dup (p.Asp872fs)	WRN (D872fs)	Duplication (frameshift variant)	Werner syndrome	GPathogenic

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