C0043194[trait identifier] AND "KCCC/NGS Laboratory, Kuwait Cancer Con - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 458499	NM_000553.6(WRN):c.75A>G (p.Arg25=)	WRN	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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 238121	NM_000553.6(WRN):c.144A>G (p.Glu48=)	WRN	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 130760	NM_000553.6(WRN):c.340G>A (p.Val114Ile)	WRN (V114I)	Single nucleotide variant (missense variant)	Werner syndrome +3 more	GBenign/Likely benign
Select item 256709	NM_000553.6(WRN):c.355+20A>T	WRN	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 130763	NM_000553.6(WRN):c.513C>T (p.Cys171=)	WRN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 135449	NM_000553.6(WRN):c.970A>G (p.Thr324Ala)	WRN (T324A)	Single nucleotide variant (missense variant)	not specified +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)	not specified +3 more	GBenign
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 256706	NM_000553.6(WRN):c.1577-17T>G	WRN	Single nucleotide variant (intron variant)	not specified +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)	Werner syndrome +3 more	GBenign/Likely benign
Select item 238130	NM_000553.6(WRN):c.1788T>C (p.Ser596=)	WRN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 135420	NM_000553.6(WRN):c.1882C>G (p.Leu628Val)	WRN (L628V)	Single nucleotide variant (missense variant)	Wiskott-Aldrich 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 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 135425	NM_000553.6(WRN):c.2950T>A (p.Leu984Ile)	WRN (L984I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 458438	NM_000553.6(WRN):c.3132G>A (p.Thr1044=)	WRN	Single nucleotide variant (synonymous variant)	Werner syndrome +1 more	GLikely benign
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)	Werner syndrome +3 more	GBenign
Select item 130759	NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe)	WRN (L1074F)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 256708	NM_000553.6(WRN):c.3234-130T>C	WRN	Single nucleotide variant (intron variant)	not specified +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)	Wiskott-Aldrich syndrome +1 more	GBenign/Likely benign
Select item 135440	NM_000553.6(WRN):c.4015G>A (p.Val1339Ile)	WRN (V1339I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 130761	NM_000553.6(WRN):c.4083C>T (p.Ser1361=)	WRN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 130762	NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg)	WRN (C1367R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 135443	NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)	LOC126860342, WRN (R1406*)	Single nucleotide variant (nonsense)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 528222	NM_000377.3(WAS):c.91G>A (p.Glu31Lys)	WAS (E31K)	Single nucleotide variant (missense variant)	X-linked severe congenital neutropenia +3 more	GPathogenic/Likely pathogenic
Select item 255963	NM_000377.3(WAS):c.210G>A (p.Gly70=)	WAS	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 2573184	NM_000377.3(WAS):c.226_228del (p.Lys76del)	WAS (K76del)	Deletion (inframe_deletion)	Wiskott-Aldrich syndrome	GLikely pathogenic
Select item 135413	NM_000377.3(WAS):c.391G>A (p.Glu131Lys)	WAS (E131K)	Single nucleotide variant (missense variant)	WAS-related condition +4 more	GConflicting classifications of pathogenicity
Select item 135410	NM_000377.3(WAS):c.995T>C (p.Val332Ala)	WAS (V332A)	Single nucleotide variant (missense variant)	Wiskott-Aldrich syndrome +4 more	GBenign/Likely benign
Select item 212587	NM_000377.3(WAS):c.1299G>A (p.Ala433=)	WAS	Single nucleotide variant (synonymous variant)	Wiskott-Aldrich syndrome +3 more	GBenign/Likely benign
Select item 135411	NM_000377.3(WAS):c.1378C>T (p.Pro460Ser)	WAS (P460S)	Single nucleotide variant (missense variant)	Thrombocytopenia 1 +4 more	GBenign
Select item 255962	NM_000377.3(WAS):c.1453+16C>T	WAS	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign

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Items: 38