C0043119[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 238124	NM_000553.6(WRN):c.15del (p.Lys5fs)	WRN (K5fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 3240729	NM_000553.6(WRN):c.34C>T (p.Gln12Ter)	WRN (Q12*)	Single nucleotide variant (nonsense)	Werner syndrome	GLikely pathogenic
Select item 2679609	NM_000553.6(WRN):c.39_40dup (p.Lys14fs)	WRN (K14fs)	Duplication (frameshift variant)	Werner syndrome	GLikely pathogenic
Select item 569323	NM_000553.6(WRN):c.88G>T (p.Glu30Ter)	WRN (E30*)	Single nucleotide variant (nonsense)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 2679610	NM_000553.6(WRN):c.96+1del	WRN	Deletion (splice donor variant)	Werner syndrome	GLikely pathogenic
Select item 1990047	NM_000553.6(WRN):c.96+1G>A	WRN	Single nucleotide variant (splice donor variant)	Werner syndrome	GLikely pathogenic
Select item 862540	NM_000553.6(WRN):c.97-1G>A	WRN	Single nucleotide variant (splice acceptor variant)	Werner syndrome	GLikely pathogenic
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 569940	NM_000553.6(WRN):c.137T>C (p.Phe46Ser)	WRN (F46S)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 653140	NM_000553.6(WRN):c.171C>G (p.Tyr57Ter)	WRN (Y57*)	Single nucleotide variant (nonsense)	Werner syndrome	GPathogenic
Select item 3240734	NM_000553.6(WRN):c.209+2_209+7delinsAA	WRN	Indel (splice donor variant)	Werner syndrome	GLikely pathogenic
Select item 458402	NM_000553.6(WRN):c.210-1G>A	WRN	Single nucleotide variant (splice acceptor variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 458413	NM_000553.6(WRN):c.229dup (p.Asp77fs)	WRN (D77fs)	Duplication (frameshift variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 2679620	NM_000553.6(WRN):c.230dup (p.Asp77fs)	WRN (D77fs)	Duplication (frameshift variant)	Werner syndrome	GLikely pathogenic
Select item 2679587	NM_000553.6(WRN):c.254_258dup (p.Pro87fs)	WRN (P87fs)	Duplication (frameshift variant)	Werner syndrome	GLikely pathogenic
Select item 1075241	NM_000553.6(WRN):c.329dup (p.Tyr110Ter)	WRN (Y110*)	Duplication (nonsense)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 851757	NM_000553.6(WRN):c.355+1G>T	WRN	Single nucleotide variant (splice donor variant)	Werner syndrome	GLikely pathogenic
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 2679604	NM_000553.6(WRN):c.356-2A>G	WRN	Single nucleotide variant (splice acceptor variant)	Werner syndrome	GLikely pathogenic
Select item 954955	NM_000553.6(WRN):c.356-2A>C	WRN	Single nucleotide variant (splice acceptor variant)	Werner syndrome	GPathogenic
Select item 2679584	NM_000553.6(WRN):c.464T>A (p.Leu155Ter)	WRN (L155*)	Single nucleotide variant (nonsense)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 949688	NM_000553.6(WRN):c.485C>T (p.Thr162Ile)	WRN (T162I)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 403979	NM_000553.6(WRN):c.502_503del (p.Lys168fs)	WRN (K168fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic
Select item 1346599	NM_000553.6(WRN):c.505-2A>G	WRN	Single nucleotide variant (splice acceptor variant)	Werner syndrome	GLikely pathogenic
Select item 2679616	NM_000553.6(WRN):c.539_543del (p.Leu180fs)	WRN (L180fs)	Deletion (frameshift variant)	Werner syndrome	GLikely pathogenic
Select item 2679592	NM_000553.6(WRN):c.554T>A (p.Leu185Ter)	WRN (L185*)	Single nucleotide variant (nonsense)	Werner syndrome	GLikely pathogenic
Select item 198099	NM_000553.6(WRN):c.561A>G (p.Lys187=)	WRN	Single nucleotide variant (synonymous variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2679591	NM_000553.6(WRN):c.599G>A (p.Trp200Ter)	WRN (W200*)	Single nucleotide variant (nonsense)	Werner syndrome	GLikely pathogenic
Select item 404010	NM_000553.6(WRN):c.673C>T (p.Arg225Ter)	WRN (R225*)	Single nucleotide variant (nonsense)	WRN-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 135448	NM_000553.6(WRN):c.720T>G (p.Asn240Lys)	WRN (N240K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1405706	NM_000553.6(WRN):c.724G>C (p.Glu242Gln)	WRN (E242Q)	Single nucleotide variant (missense variant)	Werner syndrome	GConflicting classifications of pathogenicity
Select item 528108	NM_000553.6(WRN):c.835C>T (p.Arg279Trp)	WRN (R279W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2679589	NM_000553.6(WRN):c.838del (p.Arg280fs)	WRN (R280fs)	Deletion (frameshift variant)	Werner syndrome	GLikely pathogenic
Select item 1469721	NM_000553.6(WRN):c.839+1G>A	WRN	Single nucleotide variant (splice donor variant)	Werner syndrome	GLikely pathogenic
Select item 2679606	NM_000553.6(WRN):c.840-2A>T	WRN	Single nucleotide variant (splice acceptor variant)	Werner syndrome	GLikely pathogenic
Select item 641348	NM_000553.6(WRN):c.859del (p.Asp287fs)	WRN (D287fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 1451410	NM_000553.6(WRN):c.867_874del (p.Glu290fs)	WRN (E290fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic
Select item 949529	NM_000553.6(WRN):c.944T>G (p.Leu315Ter)	WRN (L315*)	Single nucleotide variant (nonsense)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 2679613	NM_000553.6(WRN):c.968C>G (p.Ser323Ter)	WRN (S323*)	Single nucleotide variant (nonsense)	Werner syndrome	GLikely pathogenic
Select item 1453198	NM_000553.6(WRN):c.1012_1018del (p.Val338fs)	WRN (V338fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 238115	NM_000553.6(WRN):c.1027G>A (p.Glu343Lys)	WRN (E343K)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
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 566883	NM_000553.6(WRN):c.1114_1115delinsC (p.Asp372fs)	WRN (D372fs)	Indel (frameshift variant)	Werner syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2679585	NM_000553.6(WRN):c.1134del (p.Glu379fs)	WRN (E379fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic
Select item 2679586	NM_000553.6(WRN):c.1161_1163delinsAG (p.Met387fs)	WRN (M387fs)	Indel (frameshift variant)	Werner syndrome	GLikely pathogenic
Select item 3240739	NM_000553.6(WRN):c.1175del (p.Cys391_Leu392insTer)	WRN	Deletion (nonsense)	Werner syndrome	GLikely pathogenic
Select item 2125827	NM_000553.6(WRN):c.1173T>A (p.Cys391Ter)	WRN (C391*)	Single nucleotide variant (nonsense)	Werner syndrome	GPathogenic/Likely pathogenic
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 1512286	NM_000553.6(WRN):c.1350+1G>T	WRN	Single nucleotide variant (splice donor variant)	Werner syndrome	GConflicting classifications of pathogenicity
Select item 3240733	NM_000553.6(WRN):c.1362del (p.Asn455fs)	WRN (N455fs)	Deletion (frameshift variant)	Werner syndrome	GLikely pathogenic
Select item 2679603	NM_000553.6(WRN):c.1372G>T (p.Glu458Ter)	WRN (E458*)	Single nucleotide variant (nonsense)	Werner syndrome	GLikely pathogenic
Select item 854330	NM_000553.6(WRN):c.1424T>C (p.Met475Thr)	WRN (M475T)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2679600	NM_000553.6(WRN):c.1432-2A>G	WRN	Single nucleotide variant (splice acceptor variant)	Werner syndrome	GLikely pathogenic
Select item 952009	NM_000553.6(WRN):c.1432-2A>T	WRN	Single nucleotide variant (splice acceptor variant)	Werner syndrome	GLikely pathogenic
Select item 835120	NM_000553.6(WRN):c.1486A>T (p.Lys496Ter)	WRN (K496*)	Single nucleotide variant (nonsense)	Werner syndrome	GPathogenic
Select item 528181	NM_000553.6(WRN):c.1504G>C (p.Gly502Arg)	WRN (G502R)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GUncertain significance
Select item 3240732	NM_000553.6(WRN):c.1511del (p.Pro504fs)	WRN (P504fs)	Deletion (frameshift variant)	Werner syndrome	GLikely pathogenic
Select item 2679614	NM_000553.6(WRN):c.1519G>T (p.Glu507Ter)	WRN (E507*)	Single nucleotide variant (nonsense)	Werner syndrome	GLikely pathogenic
Select item 1066480	NM_000553.6(WRN):c.1576+1dup	WRN	Duplication (splice donor variant)	Werner syndrome	GLikely pathogenic
Select item 2679583	NM_000553.6(WRN):c.1576+1G>T	WRN	Single nucleotide variant (splice donor variant)	Werner syndrome	GLikely pathogenic
Select item 624320	NM_000553.6(WRN):c.1578del (p.Leu528fs)	WRN (L528fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 528149	NM_000553.6(WRN):c.1652+1G>A	WRN	Single nucleotide variant (splice donor variant)	Werner syndrome	GLikely pathogenic
Select item 2679619	NM_000553.6(WRN):c.1657C>T (p.Gln553Ter)	WRN (Q553*)	Single nucleotide variant (nonsense)	Werner syndrome	GLikely pathogenic
Select item 640381	NM_000553.6(WRN):c.1665del (p.Lys555_Val556insTer)	WRN	Deletion (frameshift variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 2679612	NM_000553.6(WRN):c.1689_1695del (p.Arg564fs)	WRN (R564fs)	Deletion (frameshift variant)	Werner syndrome	GLikely pathogenic
Select item 949109	NM_000553.6(WRN):c.1720+5G>A	WRN	Single nucleotide variant (intron variant)	Werner syndrome	GLikely pathogenic
Select item 2123235	NM_000553.6(WRN):c.1721-1G>A	WRN	Single nucleotide variant (splice acceptor variant)	Werner syndrome	GLikely pathogenic
Select item 568746	NM_000553.6(WRN):c.1744C>T (p.Gln582Ter)	WRN (Q582*)	Single nucleotide variant (nonsense)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 1948137	NM_000553.6(WRN):c.1754del (p.Pro585fs)	WRN (P585fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 2679588	NM_000553.6(WRN):c.1801_1802del (p.Leu601fs)	WRN (L601fs)	Microsatellite (frameshift variant)	Werner syndrome	GPathogenic
Select item 2679596	NM_000553.6(WRN):c.1871C>A (p.Ser624Ter)	WRN (S624*)	Single nucleotide variant (nonsense)	Werner syndrome	GLikely pathogenic
Select item 2679618	NM_000553.6(WRN):c.1873G>T (p.Glu625Ter)	WRN (E625*)	Single nucleotide variant (nonsense)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 404044	NM_000553.6(WRN):c.1898+2T>G	WRN	Single nucleotide variant (splice donor variant)	Werner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2679595	NM_000553.6(WRN):c.1908C>G (p.Tyr636Ter)	WRN (Y636*)	Single nucleotide variant (nonsense)	Werner syndrome	GLikely pathogenic
Select item 656412	NM_000553.6(WRN):c.1908C>A (p.Tyr636Ter)	WRN (Y636*)	Single nucleotide variant (nonsense)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 632025	NM_000553.6(WRN):c.1982-2A>G	WRN	Single nucleotide variant (splice acceptor variant)	Werner syndrome	GConflicting classifications of pathogenicity
Select item 852678	NM_000553.6(WRN):c.1993dup (p.Ile665fs)	WRN (I665fs)	Duplication (frameshift variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 2679621	NM_000553.6(WRN):c.2017dup (p.Ile673fs)	WRN (I673fs)	Duplication (frameshift variant)	Werner syndrome	GLikely pathogenic
Select item 2679590	NM_000553.6(WRN):c.2040del (p.Phe680fs)	WRN (F680fs)	Deletion (frameshift variant)	Werner syndrome	GLikely pathogenic
Select item 38886	NM_000553.6(WRN):c.2089-3024A>G	WRN	Single nucleotide variant (intron variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 458404	NM_000553.6(WRN):c.2103_2104del (p.Leu702fs)	WRN (L702fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic
Select item 3240736	NM_000553.6(WRN):c.2118_2119del (p.Ser707fs)	WRN (S707fs)	Deletion (frameshift variant)	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 528133	NM_000553.6(WRN):c.2194C>T (p.Arg732Ter)	WRN (R732*)	Single nucleotide variant (nonsense)	Werner syndrome	GPathogenic
Select item 528094	NM_000553.6(WRN):c.2221C>T (p.Arg741Ter)	WRN (R741*)	Single nucleotide variant (nonsense)	Werner syndrome	GPathogenic
Select item 2145827	NM_000553.6(WRN):c.2229_2230del (p.Gly744fs)	WRN (G744fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic
Select item 2679615	NM_000553.6(WRN):c.2290G>T (p.Glu764Ter)	WRN (E764*)	Single nucleotide variant (nonsense)	Werner syndrome	GLikely pathogenic
Select item 852921	NM_000553.6(WRN):c.2296C>G (p.Pro766Ala)	WRN (P766A)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 458415	NM_000553.6(WRN):c.2300C>G (p.Thr767Arg)	WRN (T767R)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 665278	NM_000553.6(WRN):c.2345del (p.Gly782fs)	WRN (G782fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 1466723	NM_000553.6(WRN):c.2448+1G>A	WRN	Single nucleotide variant (splice donor variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 3240738	NM_000553.6(WRN):c.2449-3_2449-2del	WRN	Deletion (splice acceptor variant)	Werner syndrome	GLikely pathogenic
Select item 644997	NM_000553.6(WRN):c.2449-2A>C	WRN	Single nucleotide variant (splice acceptor variant)	Werner syndrome	GLikely pathogenic
Select item 651657	NM_000553.6(WRN):c.2503del (p.Gln835fs)	WRN (Q835fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 1421724	NM_000553.6(WRN):c.2548C>T (p.Gln850Ter)	WRN (Q850*)	Single nucleotide variant (nonsense)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 2679599	NM_000553.6(WRN):c.2624T>G (p.Leu875Ter)	WRN (L875*)	Single nucleotide variant (nonsense)	Werner syndrome	GLikely pathogenic
Select item 1514230	NM_000553.6(WRN):c.2630+1G>A	WRN	Single nucleotide variant (splice donor variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 404045	NM_000553.6(WRN):c.2665C>T (p.Arg889Ter)	WRN (R889*)	Single nucleotide variant (nonsense)	Werner syndrome +1 more	GPathogenic
Select item 2679598	NM_000553.6(WRN):c.2731C>T (p.Gln911Ter)	WRN (Q911*)	Single nucleotide variant (nonsense)	Werner syndrome	GLikely pathogenic
Select item 2679608	NM_000553.6(WRN):c.2856dup (p.Glu953fs)	WRN (E953fs)	Duplication (frameshift variant)	Werner syndrome	GLikely pathogenic

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