"Genome-Nilou Lab"[submitter] AND "WRN"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1224776	NM_000553.6(WRN):c.96+26T>C	WRN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 238121	NM_000553.6(WRN):c.144A>G (p.Glu48=)	WRN	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +3 more	GBenign/Likely benign
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 256709	NM_000553.6(WRN):c.355+20A>T	WRN	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome +3 more	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 256711	NM_000553.6(WRN):c.725-9del	WRN	Deletion (intron variant)	not provided +2 more	GBenign
Select item 802395	NM_000553.6(WRN):c.839+25del	WRN	Deletion (intron variant)	not provided +1 more	GBenign
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 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 1268695	NM_000553.6(WRN):c.1350+22T>C	WRN	Single nucleotide variant (intron variant)	Werner syndrome +1 more	GBenign
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 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 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 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 256707	NM_000553.6(WRN):c.1982-5del	WRN	Deletion (intron variant)	not specified +2 more	GBenign/Likely benign
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 130758	NM_000553.6(WRN):c.2361G>T (p.Leu787=)	WRN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1225664	NM_000553.6(WRN):c.2449-42T>C	WRN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 1214658	NM_000553.6(WRN):c.2631-17A>C	WRN	Single nucleotide variant (intron variant)	Werner syndrome +1 more	GBenign/Likely benign
Select item 1223139	NM_000553.6(WRN):c.2732+19A>G	WRN	Single nucleotide variant (intron variant)	Werner syndrome +1 more	GBenign/Likely benign
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 130754	NM_000553.6(WRN):c.3138+6C>T	WRN	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 130755	NM_000553.6(WRN):c.3138+7G>A	WRN	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 256708	NM_000553.6(WRN):c.3234-130T>C	WRN	Single nucleotide variant (intron variant)	Wiskott-Aldrich syndrome +3 more	GBenign
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 238149	NM_000553.6(WRN):c.3237G>A (p.Ser1079=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome +2 more	GBenign/Likely benign
Select item 238152	NM_000553.6(WRN):c.3384-3T>C	WRN	Single nucleotide variant (intron variant)	Werner syndrome +1 more	GBenign
Select item 1280810	NM_000553.6(WRN):c.3572+25_3572+26insC	WRN	Insertion (intron variant)	Werner syndrome +1 more	GBenign
Select item 196668	NM_000553.6(WRN):c.3627T>A (p.Ala1209=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome +1 more	GBenign/Likely benign
Select item 256710	NM_000553.6(WRN):c.3983-12dup	WRN	Duplication (intron variant)	not specified +2 more	GBenign
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 130761	NM_000553.6(WRN):c.4083C>T (p.Ser1361=)	WRN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
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 1684232	NM_000553.6(WRN):c.4192-39T>C	LOC126860342, WRN	Single nucleotide variant (intron variant)	Werner syndrome +1 more	GBenign

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Items: 39