"ITMI"[submitter] AND "WRN"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 135433	NM_000553.6(WRN):c.145T>A (p.Phe49Ile)	WRN (F49I)	Single nucleotide variant (missense variant)	Werner syndrome	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 135444	NM_000553.6(WRN):c.443T>A (p.Leu148Gln)	WRN (L148Q)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
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 135446	NM_000553.6(WRN):c.587G>A (p.Arg196His)	WRN (R196H)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 135447	NM_000553.6(WRN):c.667A>G (p.Ile223Val)	WRN (I223V)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
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 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 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 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 135450	NM_000553.6(WRN):c.1240C>G (p.Leu414Val)	WRN (L414V)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 135415	NM_000553.6(WRN):c.1413A>C (p.Leu471Phe)	WRN (L471F)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 135416	NM_000553.6(WRN):c.1530A>T (p.Glu510Asp)	WRN (E510D)	Single nucleotide variant (missense variant)	Werner syndrome +2 more	GConflicting classifications of pathogenicity
Select item 135417	NM_000553.6(WRN):c.1708G>C (p.Val570Leu)	WRN (V570L)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 135418	NM_000553.6(WRN):c.1762G>A (p.Val588Ile)	WRN (V588I)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 135419	NM_000553.6(WRN):c.1835C>G (p.Ser612Cys)	WRN (S612C)	Single nucleotide variant (missense variant)	Werner syndrome	GConflicting classifications of pathogenicity
Select item 135420	NM_000553.6(WRN):c.1882C>G (p.Leu628Val)	WRN (L628V)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GBenign/Likely benign
Select item 135421	NM_000553.6(WRN):c.1909C>T (p.Arg637Trp)	WRN (R637W)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 135422	NM_000553.6(WRN):c.2165A>G (p.Asn722Ser)	WRN (N722S)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 38888	NM_000553.6(WRN):c.2500C>T (p.Arg834Cys)	WRN (R834C)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 135424	NM_000553.6(WRN):c.2937T>G (p.Ile979Met)	WRN (I979M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 135425	NM_000553.6(WRN):c.2950T>A (p.Leu984Ile)	WRN (L984I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 135427	NM_000553.6(WRN):c.2978G>A (p.Arg993His)	WRN (R993H)	Single nucleotide variant (missense variant)	Ovarian cancer +1 more	GConflicting classifications of pathogenicity
Select item 135428	NM_000553.6(WRN):c.2983G>A (p.Ala995Thr)	WRN (A995T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 135429	NM_000553.6(WRN):c.2986G>A (p.Asp996Asn)	WRN (D996N)	Single nucleotide variant (missense variant)	Werner syndrome +2 more	GConflicting classifications of pathogenicity
Select item 135426	NM_000553.6(WRN):c.3097C>T (p.Arg1033Trp)	WRN (R1033W)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 130759	NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe)	WRN (L1074F)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 130756	NM_000553.6(WRN):c.3236C>T (p.Ser1079Leu)	WRN (S1079L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 135430	NM_000553.6(WRN):c.3251C>T (p.Ser1084Leu)	WRN (S1084L)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 135431	NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu)	WRN (S1141L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 135434	NM_000553.6(WRN):c.3506A>G (p.Asn1169Ser)	WRN (N1169S)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 135435	NM_000553.6(WRN):c.3731C>T (p.Thr1244Met)	WRN (T1244M)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 135436	NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg)	WRN (T1262R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 135437	NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr)	WRN (S1292Y)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 135440	NM_000553.6(WRN):c.4015G>A (p.Val1339Ile)	WRN (V1339I)	Single nucleotide variant (missense variant)	Werner syndrome +2 more	GBenign/Likely benign
Select item 135441	NM_000553.6(WRN):c.4051G>A (p.Ala1351Thr)	WRN (A1351T)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 130762	NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg)	WRN (C1367R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 135439	NM_000553.6(WRN):c.4127C>T (p.Pro1376Leu)	WRN (P1376L)	Single nucleotide variant (missense variant)	Werner syndrome	GConflicting classifications of pathogenicity
Select item 135438	NM_000553.6(WRN):c.4165A>G (p.Lys1389Glu)	WRN (K1389E)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 135442	NM_000553.6(WRN):c.4191G>A (p.Glu1397=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome	GLikely benign
Select item 135443	NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)	LOC126860342, WRN (R1406*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 44