C0043119[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 458472	NM_000553.6(WRN):c.394G>A (p.Ala132Thr)	WRN (A132T)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 2117360	NM_000553.6(WRN):c.407C>G (p.Ala136Gly)	WRN (A136G)	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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 528108	NM_000553.6(WRN):c.835C>T (p.Arg279Trp)	WRN (R279W)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GUncertain significance
Select item 5449	NM_000553.6(WRN):c.1105C>T (p.Arg369Ter)	WRN (R369*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 238117	NM_000553.6(WRN):c.1165del (p.Arg389fs)	WRN (R389fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 238128	NM_000553.6(WRN):c.1717A>G (p.Thr573Ala)	WRN (T573A)	Single nucleotide variant (missense variant)	Werner syndrome +2 more	GConflicting classifications of pathogenicity
Select item 458422	NM_000553.6(WRN):c.2557G>A (p.Gly853Ser)	WRN (G853S)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 238143	NM_000553.6(WRN):c.2735T>G (p.Ile912Ser)	WRN (I912S)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 135424	NM_000553.6(WRN):c.2937T>G (p.Ile979Met)	WRN (I979M)	Single nucleotide variant (missense variant)	Werner syndrome +1 more	GConflicting classifications of pathogenicity
Select item 403999	NM_000553.6(WRN):c.2944C>T (p.Pro982Ser)	WRN (P982S)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1323773	NM_000553.6(WRN):c.3244_3245del (p.Val1082fs)	WRN (V1082fs)	Deletion (frameshift variant)	Werner syndrome	GPathogenic
Select item 528180	NM_000553.6(WRN):c.3389T>C (p.Met1130Thr)	WRN (M1130T)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance
Select item 1323774	NM_000553.6(WRN):c.3688-2A>G	WRN	Single nucleotide variant (splice acceptor variant)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 852798	NM_000553.6(WRN):c.3724C>T (p.Gln1242Ter)	WRN (Q1242*)	Single nucleotide variant (nonsense)	Werner syndrome	GPathogenic/Likely pathogenic
Select item 2679622	NM_000553.6(WRN):c.4109del (p.Asn1370fs)	WRN (N1370fs)	Deletion (frameshift variant)	Werner syndrome	GLikely pathogenic
Select item 2690455	NM_000553.6(WRN):c.4111A>C (p.Lys1371Gln)	WRN (K1371Q)	Single nucleotide variant (missense variant)	Werner syndrome	GUncertain significance