"Fulgent Genetics, Fulgent Genetics"[submitter] AND "WRN"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1486035	NM_000553.6(WRN):c.202G>T (p.Asp68Tyr)	WRN (D68Y)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1357818	NM_000553.6(WRN):c.655-20A>G	WRN	Single nucleotide variant (intron variant)	Werner syndrome	GConflicting classifications of pathogenicity
Select item 404027	NM_000553.6(WRN):c.674G>A (p.Arg225Gln)	WRN (R225Q)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 362796	NM_000553.6(WRN):c.725-3del	WRN	Deletion (intron variant)	Werner syndrome	GUncertain significance
Select item 1507585	NM_000553.6(WRN):c.836G>C (p.Arg279Pro)	WRN (R279P)	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 802396	NM_000553.6(WRN):c.1351-1G>A	WRN	Single nucleotide variant (splice acceptor variant)	Werner syndrome	GLikely pathogenic
Select item 404029	NM_000553.6(WRN):c.1382C>T (p.Thr461Met)	WRN (T461M)	Single nucleotide variant (missense variant)	Ovarian cancer +1 more	GConflicting classifications of pathogenicity
Select item 864794	NM_000553.6(WRN):c.1388A>G (p.Tyr463Cys)	WRN (Y463C)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 528152	NM_000553.6(WRN):c.1457C>T (p.Thr486Met)	WRN (T486M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 238125	NM_000553.6(WRN):c.1652C>T (p.Pro551Leu)	WRN (P551L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 404036	NM_000553.6(WRN):c.1840A>G (p.Ile614Val)	WRN (I614V)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GUncertain significance
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 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 458401	NM_000553.6(WRN):c.2098G>A (p.Val700Ile)	WRN (V700I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 528170	NM_000553.6(WRN):c.2263G>A (p.Val755Ile)	WRN (V755I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 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 238148	NM_000553.6(WRN):c.3209_3211delinsTTT (p.Cys1070_Pro1071delinsPheSer)	WRN	Indel (missense variant)	Werner syndrome	GUncertain significance
Select item 1076156	NM_000553.6(WRN):c.3244del (p.Val1082fs)	WRN (V1082fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 238150	NM_000553.6(WRN):c.3259A>G (p.Lys1087Glu)	WRN (K1087E)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 404023	NM_000553.6(WRN):c.3284C>T (p.Pro1095Leu)	WRN (P1095L)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1066829	NM_000553.6(WRN):c.3309+1G>T	WRN	Single nucleotide variant (splice donor variant)	Werner syndrome	GLikely pathogenic
Select item 458446	NM_000553.6(WRN):c.3384-1G>A	WRN	Single nucleotide variant (splice acceptor variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 38890	NM_000553.6(WRN):c.3590del (p.Asn1197fs)	WRN (N1197fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 647636	NM_000553.6(WRN):c.3623A>G (p.Lys1208Arg)	WRN (K1208R)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 528123	NM_000553.6(WRN):c.3778G>A (p.Ala1260Thr)	WRN (A1260T)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 528101	NM_000553.6(WRN):c.3814C>T (p.Pro1272Ser)	WRN (P1272S)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 238163	NM_000553.6(WRN):c.3819+5G>C	WRN	Single nucleotide variant (intron variant)	Werner syndrome +1 more	GUncertain significance
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 5444	NM_000553.6(WRN):c.3913C>T (p.Arg1305Ter)	WRN (R1305*)	Single nucleotide variant (nonsense)	Werner syndrome	GPathogenic
Select item 458475	NM_000553.6(WRN):c.4001T>G (p.Leu1334Arg)	WRN (L1334R)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GUncertain significance
Select item 647635	NM_000553.6(WRN):c.4011G>A (p.Met1337Ile)	WRN (M1337I)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
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

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Items: 35