"WRN-related condition"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 135432	NM_000553.6(WRN):c.107G>A (p.Arg36Gln)	WRN (R36Q)	Single nucleotide variant (missense variant)	WRN-related condition +3 more	GConflicting classifications of pathogenicity
Select item 238151	NM_000553.6(WRN):c.326G>A (p.Cys109Tyr)	WRN (C109Y)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GUncertain significance
Select item 458494	NM_000553.6(WRN):c.654+4C>T	WRN	Single nucleotide variant (intron variant)	Werner syndrome +2 more	GConflicting classifications of pathogenicity
Select item 404010	NM_000553.6(WRN):c.673C>T (p.Arg225Ter)	WRN (R225*)	Single nucleotide variant (nonsense)	Werner syndrome +1 more	GPathogenic/Likely pathogenic
Select item 135448	NM_000553.6(WRN):c.720T>G (p.Asn240Lys)	WRN (N240K)	Single nucleotide variant (missense variant)	WRN-related condition +2 more	GConflicting classifications of pathogenicity
Select item 458498	NM_000553.6(WRN):c.747C>A (p.Asp249Glu)	WRN (D249E)	Single nucleotide variant (missense variant)	WRN-related condition +2 more	GUncertain significance
Select item 649261	NM_000553.6(WRN):c.956C>T (p.Ser319Phe)	WRN (S319F)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GUncertain significance
Select item 238115	NM_000553.6(WRN):c.1027G>A (p.Glu343Lys)	WRN (E343K)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 458380	NM_000553.6(WRN):c.1302G>A (p.Thr434=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 412691	NM_000553.6(WRN):c.1350+3A>G	WRN	Single nucleotide variant (intron variant)	WRN-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1568987	NM_000553.6(WRN):c.1351-9T>C	WRN	Single nucleotide variant (intron variant)	Werner syndrome +1 more	GLikely benign
Select item 458382	NM_000553.6(WRN):c.1378G>A (p.Asp460Asn)	WRN (D460N)	Single nucleotide variant (missense variant)	Werner syndrome +2 more	GConflicting classifications of pathogenicity
Select item 412719	NM_000553.6(WRN):c.1383G>A (p.Thr461=)	WRN	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 528100	NM_000553.6(WRN):c.1451G>T (p.Ser484Ile)	WRN (S484I)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GUncertain significance
Select item 404021	NM_000553.6(WRN):c.1505G>T (p.Gly502Val)	WRN (G502V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 194004	NM_000553.6(WRN):c.1518AGA[4] (p.Glu510del)	WRN (E510del)	Microsatellite (inframe_deletion)	WRN-related condition +2 more	GConflicting classifications of pathogenicity
Select item 404004	NM_000553.6(WRN):c.1531G>C (p.Asp511His)	WRN (D511H)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GUncertain significance
Select item 238128	NM_000553.6(WRN):c.1717A>G (p.Thr573Ala)	WRN (T573A)	Single nucleotide variant (missense variant)	WRN-related condition +2 more	GConflicting classifications of pathogenicity
Select item 528116	NM_000553.6(WRN):c.1830-3T>C	WRN	Single nucleotide variant (intron variant)	Werner syndrome +1 more	GLikely benign
Select item 135421	NM_000553.6(WRN):c.1909C>T (p.Arg637Trp)	WRN (R637W)	Single nucleotide variant (missense variant)	WRN-related condition +3 more	GConflicting classifications of pathogenicity
Select item 412715	NM_000553.6(WRN):c.1920C>T (p.Tyr640=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome +1 more	GLikely benign
Select item 1559580	NM_000553.6(WRN):c.2004T>C (p.Asp668=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome +1 more	GLikely benign
Select item 3005890	NM_000553.6(WRN):c.2019T>C (p.Ile673=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome +1 more	GLikely benign
Select item 3008647	NM_000553.6(WRN):c.2031G>C (p.Gly677=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome +1 more	GLikely benign
Select item 458397	NM_000553.6(WRN):c.2059T>G (p.Leu687Val)	WRN (L687V)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GBenign/Likely benign
Select item 238134	NM_000553.6(WRN):c.2067C>T (p.Ser689=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome +2 more	GConflicting classifications of pathogenicity
Select item 362804	NM_000553.6(WRN):c.2088+6C>T	WRN	Single nucleotide variant (intron variant)	WRN-related condition +1 more	GConflicting classifications of pathogenicity
Select item 238136	NM_000553.6(WRN):c.2131C>T (p.Arg711Trp)	WRN (R711W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 528199	NM_000553.6(WRN):c.2274-7T>C	WRN	Single nucleotide variant (intron variant)	Werner syndrome +1 more	GLikely benign
Select item 238139	NM_000553.6(WRN):c.2342C>T (p.Thr781Ile)	WRN (T781I)	Single nucleotide variant (missense variant)	Ovarian cancer +2 more	GConflicting classifications of pathogenicity
Select item 653132	NM_000553.6(WRN):c.2416A>G (p.Ile806Val)	WRN (I806V)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GUncertain significance
Select item 528153	NM_000553.6(WRN):c.2443A>G (p.Ile815Val)	WRN (I815V)	Single nucleotide variant (missense variant)	WRN-related condition +1 more	GUncertain significance
Select item 412704	NM_000553.6(WRN):c.2571T>C (p.Arg857=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome +1 more	GLikely benign
Select item 528197	NM_000553.6(WRN):c.3021C>A (p.Gly1007=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome +1 more	GLikely benign
Select item 404055	NM_000553.6(WRN):c.3059G>A (p.Arg1020His)	WRN (R1020H)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 238146	NM_000553.6(WRN):c.3101A>T (p.Tyr1034Phe)	WRN (Y1034F)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +2 more	GConflicting classifications of pathogenicity
Select item 528185	NM_000553.6(WRN):c.3205T>C (p.Leu1069=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome +1 more	GLikely benign
Select item 1076156	NM_000553.6(WRN):c.3244del (p.Val1082fs)	WRN (V1082fs)	Deletion (frameshift variant)	WRN-related condition +1 more	GPathogenic/Likely pathogenic
Select item 238150	NM_000553.6(WRN):c.3259A>G (p.Lys1087Glu)	WRN (K1087E)	Single nucleotide variant (missense variant)	Werner syndrome +2 more	GConflicting classifications of pathogenicity
Select item 238152	NM_000553.6(WRN):c.3384-3T>C	WRN	Single nucleotide variant (intron variant)	Werner syndrome +2 more	GBenign
Select item 135431	NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu)	WRN (S1141L)	Single nucleotide variant (missense variant)	WRN-related condition +3 more	GConflicting classifications of pathogenicity
Select item 3047140	NM_000553.6(WRN):c.3573-31TTG[8]	WRN	Microsatellite (intron variant)	WRN-related condition	GLikely benign
Select item 3045222	NM_000553.6(WRN):c.3573-31TTG[6]	WRN	Microsatellite (intron variant)	WRN-related condition	GLikely benign
Select item 528215	NM_000553.6(WRN):c.3588A>G (p.Glu1196=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome +1 more	GLikely benign
Select item 458468	NM_000553.6(WRN):c.3801A>G (p.Gln1267=)	WRN	Single nucleotide variant (synonymous variant)	WRN-related condition +1 more	GConflicting classifications of pathogenicity
Select item 238163	NM_000553.6(WRN):c.3819+5G>C	WRN	Single nucleotide variant (intron variant)	WRN-related condition +1 more	GUncertain significance
Select item 238166	NM_000553.6(WRN):c.4248T>C (p.Asp1416=)	WRN, LOC126860342	Single nucleotide variant (synonymous variant)	Werner syndrome +1 more	GBenign/Likely benign
Select item 2632224	NM_000553.6(WRN):c.4259A>G (p.Lys1420Arg)	LOC126860342, WRN (K1420R)	Single nucleotide variant (missense variant)	WRN-related condition	GUncertain significance

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Items: 48