"GeneDx"[submitter] AND "WRN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 more	Copy number gain	See cases	GPathogenic
Select item 60359	GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1	ADRA1A, BNIP3L +259 more	Copy number loss	See cases	GPathogenic
Select item 1286012	NM_000553.6(WRN):c.-76-261G>A	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250354	NM_000553.6(WRN):c.-76-214A>C	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 135423	NM_000553.6(WRN):c.95A>G (p.Lys32Arg)	WRN (K32R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1224776	NM_000553.6(WRN):c.96+26T>C	WRN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 135432	NM_000553.6(WRN):c.107G>A (p.Arg36Gln)	WRN (R36Q)	Single nucleotide variant (missense variant)	Werner syndrome +2 more	GConflicting classifications of pathogenicity
Select item 404007	NM_000553.6(WRN):c.130C>G (p.Leu44Val)	WRN (L44V)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 576995	NM_000553.6(WRN):c.201A>G (p.Glu67=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1225891	NM_000553.6(WRN):c.209+99G>A	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261234	NM_000553.6(WRN):c.209+106A>G	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218737	NM_000553.6(WRN):c.209+129C>T	WRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193922	NM_000553.6(WRN):c.210-53C>T	WRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275471	NM_000553.6(WRN):c.210-52A>G	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 284291	NM_000553.6(WRN):c.229G>C (p.Asp77His)	WRN (D77H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 130760	NM_000553.6(WRN):c.340G>A (p.Val114Ile)	WRN (V114I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 238158	NM_000553.6(WRN):c.355+4G>C	WRN	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 256709	NM_000553.6(WRN):c.355+20A>T	WRN	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome +3 more	GBenign
Select item 1205608	NM_000553.6(WRN):c.355+91C>T	WRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262296	NM_000553.6(WRN):c.355+176A>G	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254952	NM_000553.6(WRN):c.356-85C>T	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 130763	NM_000553.6(WRN):c.513C>T (p.Cys171=)	WRN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 135445	NM_000553.6(WRN):c.514A>C (p.Thr172Pro)	WRN (T172P)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 458494	NM_000553.6(WRN):c.654+4C>T	WRN	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1187985	NM_000553.6(WRN):c.654+135C>A	WRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203212	NM_000553.6(WRN):c.654+210T>C	WRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223094	NM_000553.6(WRN):c.654+216A>G	WRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238011	NM_000553.6(WRN):c.655-23T>A	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186399	NM_000553.6(WRN):c.724+74C>T	WRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210735	NM_000553.6(WRN):c.724+120A>G	WRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211825	NM_000553.6(WRN):c.725-260T>C	WRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 256711	NM_000553.6(WRN):c.725-9del	WRN	Deletion (intron variant)	not provided +2 more	GBenign
Select item 1251255	NM_000553.6(WRN):c.839+46del	WRN	Deletion (intron variant)	not provided	GBenign
Select item 1259276	NM_000553.6(WRN):c.839+56C>T	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255181	NM_000553.6(WRN):c.840-95G>C	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 135451	NM_000553.6(WRN):c.968C>T (p.Ser323Leu)	WRN (S323L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 135449	NM_000553.6(WRN):c.970A>G (p.Thr324Ala)	WRN (T324A)	Single nucleotide variant (missense variant)	Werner syndrome +3 more	GBenign/Likely benign
Select item 5449	NM_000553.6(WRN):c.1105C>T (p.Arg369Ter)	WRN (R369*)	Single nucleotide variant (nonsense)	Medulloblastoma +2 more	GPathogenic/Likely pathogenic
Select item 135452	NM_000553.6(WRN):c.1149G>T (p.Leu383Phe)	WRN (L383F)	Single nucleotide variant (missense variant)	Werner syndrome +3 more	GConflicting classifications of pathogenicity
Select item 362799	NM_000553.6(WRN):c.1155G>A (p.Glu385=)	WRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 130757	NM_000553.6(WRN):c.1161G>A (p.Met387Ile)	WRN (M387I)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +3 more	GBenign
Select item 238117	NM_000553.6(WRN):c.1165del (p.Arg389fs)	WRN (R389fs)	Deletion (frameshift variant)	Werner syndrome +1 more	GPathogenic/Likely pathogenic
Select item 579903	NM_000553.6(WRN):c.1172G>T (p.Cys391Phe)	WRN (C391F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 412710	NM_000553.6(WRN):c.1181C>T (p.Ser394Leu)	WRN (S394L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1195008	NM_000553.6(WRN):c.1269+204C>G	WRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186963	NM_000553.6(WRN):c.1270-60_1270-32del	WRN	Deletion (intron variant)	not provided	GLikely benign
Select item 1268695	NM_000553.6(WRN):c.1350+22T>C	WRN	Single nucleotide variant (intron variant)	Werner syndrome +1 more	GBenign
Select item 1344947	NM_000553.6(WRN):c.1350+115dup	WRN	Duplication (intron variant)	not provided	GLikely benign
Select item 1201375	NM_000553.6(WRN):c.1431+149T>A	WRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182291	NM_000553.6(WRN):c.1431+168G>A	WRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190688	NM_000553.6(WRN):c.1431+236del	WRN	Deletion (intron variant)	not provided	GLikely benign
Select item 238120	NM_000553.6(WRN):c.1439A>T (p.Glu480Val)	WRN (E480V)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GUncertain significance
Select item 1005767	NM_000553.6(WRN):c.1573A>G (p.Lys525Glu)	WRN (K525E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1211115	NM_000553.6(WRN):c.1577-294A>G	WRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 256706	NM_000553.6(WRN):c.1577-17T>G	WRN	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 130753	NM_000553.6(WRN):c.1577-3C>A	WRN	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 458388	NM_000553.6(WRN):c.1628A>C (p.Tyr543Ser)	WRN (Y543S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 238128	NM_000553.6(WRN):c.1717A>G (p.Thr573Ala)	WRN (T573A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1289231	NM_000553.6(WRN):c.1720+24T>A	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289246	NM_000553.6(WRN):c.1720+116C>A	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 238129	NM_000553.6(WRN):c.1725T>C (p.Tyr575=)	WRN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 238130	NM_000553.6(WRN):c.1788T>C (p.Ser596=)	WRN	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +3 more	GBenign/Likely benign
Select item 1191646	NM_000553.6(WRN):c.1829+254T>C	WRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204245	NM_000553.6(WRN):c.1898+65C>T	WRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286734	NM_000553.6(WRN):c.1898+291T>C	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270829	NM_000553.6(WRN):c.1899-26C>T	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263290	NM_000553.6(WRN):c.1899-19C>T	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 238132	NM_000553.6(WRN):c.1953C>T (p.Gly651=)	WRN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1258435	NM_000553.6(WRN):c.1981+143C>G	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223534	NM_000553.6(WRN):c.1982-156T>C	WRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216483	NM_000553.6(WRN):c.1982-135T>A	WRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235226	NM_000553.6(WRN):c.1982-133A>G	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256707	NM_000553.6(WRN):c.1982-5del	WRN	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1265135	NM_000553.6(WRN):c.2088+26C>T	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251765	NM_000553.6(WRN):c.2088+33A>G	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275611	NM_000553.6(WRN):c.2088+121A>T	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273367	NM_000553.6(WRN):c.2089-3294T>C	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221623	NM_000553.6(WRN):c.2089-3168C>T	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2500618	NM_000553.6(WRN):c.2089-3135del	WRN	Deletion (intron variant)	not provided	GLikely benign
Select item 1289082	NM_000553.6(WRN):c.2089-3140T>A	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278123	NM_000553.6(WRN):c.2089-2944A>G	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289663	NM_000553.6(WRN):c.2089-2858C>T	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267853	NM_000553.6(WRN):c.2089-182T>A	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 238138	NM_000553.6(WRN):c.2241T>G (p.Leu747=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome +1 more	GBenign/Likely benign
Select item 1343006	NM_000553.6(WRN):c.2273+53dup	WRN	Duplication (intron variant)	not provided	GBenign
Select item 1268692	NM_000553.6(WRN):c.2273+81C>T	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197323	NM_000553.6(WRN):c.2273+135C>T	WRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212750	NM_000553.6(WRN):c.2273+299A>G	WRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282973	NM_000553.6(WRN):c.2274-228C>T	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706897	NM_000553.6(WRN):c.2274-207del	WRN	Deletion (intron variant)	not provided	GLikely benign
Select item 1235177	NM_000553.6(WRN):c.2274-59C>T	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282626	NM_000553.6(WRN):c.2274-30G>A	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 130758	NM_000553.6(WRN):c.2361G>T (p.Leu787=)	WRN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1224604	NM_000553.6(WRN):c.2448+51A>G	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280240	NM_000553.6(WRN):c.2448+304G>A	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247573	NM_000553.6(WRN):c.2449-313T>C	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278508	NM_000553.6(WRN):c.2449-269C>T	WRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266308	NM_000553.6(WRN):c.2449-105C>T	WRN	Single nucleotide variant (intron variant)	not provided	GBenign

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