"Illumina Laboratory Services, Illumina"[submitter] AND "ELN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 360633	NM_000501.3(ELN):c.-70G>C	ELN	Single nucleotide variant	Cutis laxa, autosomal dominant +3 more	GUncertain significance
Select item 213168	NM_000501.3(ELN):c.-38C>T	ELN	Single nucleotide variant	Supravalvar aortic stenosis +1 more	GBenign
Select item 872754	NM_000501.4(ELN):c.35G>T (p.Gly12Val)	ELN (G12V)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +3 more	GConflicting classifications of pathogenicity
Select item 568420	NM_000501.4(ELN):c.133+6G>A	ELN	Single nucleotide variant (intron variant)	not specified +2 more	GUncertain significance
Select item 910028	NM_000501.4(ELN):c.134-10C>G	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis +1 more	GBenign/Likely benign
Select item 360634	NM_000501.4(ELN):c.163+13A>G	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis +1 more	GConflicting classifications of pathogenicity
Select item 43584	NM_000501.4(ELN):c.212C>T (p.Ala71Val)	ELN (A71V +1 more)	Single nucleotide variant (missense variant +1 more)	ELN-related condition +3 more	GBenign/Likely benign
Select item 385940	NM_000501.4(ELN):c.232+3G>A	ELN	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 1 +3 more	GConflicting classifications of pathogenicity
Select item 453328	NM_000501.4(ELN):c.249C>T (p.Pro83=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis +4 more	GBenign/Likely benign
Select item 360635	NM_000501.4(ELN):c.259T>C (p.Phe87Leu)	ELN (F87L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 698531	NM_000501.4(ELN):c.278C>T (p.Pro93Leu)	ELN (P83L +2 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity
Select item 213171	NM_000501.4(ELN):c.326G>A (p.Gly109Asp)	ELN (G109D +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 360636	NM_000501.4(ELN):c.328G>A (p.Ala110Thr)	ELN (A110T +2 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 1 +4 more	GConflicting classifications of pathogenicity
Select item 360637	NM_000501.4(ELN):c.366A>G (p.Gly122=)	ELN	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 43890	NM_000501.4(ELN):c.427+8C>T	ELN	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant +3 more	GBenign/Likely benign
Select item 449781	NM_000501.4(ELN):c.460G>A (p.Val154Met)	ELN (V154M +4 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 1 +3 more	GConflicting classifications of pathogenicity
Select item 283421	NM_000501.4(ELN):c.470-10C>G	ELN	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 908140	NM_000501.4(ELN):c.470-5G>A	ELN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 450301	NM_000501.4(ELN):c.473C>T (p.Ala158Val)	ELN (A158V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 910090	NM_000501.4(ELN):c.478T>C (p.Phe160Leu)	ELN (F165L +4 more)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis +1 more	GConflicting classifications of pathogenicity
Select item 910091	NM_000501.4(ELN):c.483C>A (p.Pro161=)	ELN	Single nucleotide variant (synonymous variant +1 more)	Supravalvar aortic stenosis +1 more	GConflicting classifications of pathogenicity
Select item 213192	NM_000501.4(ELN):c.647G>T (p.Gly216Val)	ELN (G216V +4 more)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal dominant 1 +3 more	GConflicting classifications of pathogenicity
Select item 213175	NM_000501.4(ELN):c.659C>T (p.Pro220Leu)	ELN (P220L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 910986	NM_000501.4(ELN):c.710G>C (p.Gly237Ala)	ELN (G223A +6 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +3 more	GConflicting classifications of pathogenicity
Select item 910987	NM_000501.4(ELN):c.717G>T (p.Ala239=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 572254	NM_000501.4(ELN):c.767C>T (p.Ala256Val)	ELN (A256V +6 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 1 +1 more	GConflicting classifications of pathogenicity
Select item 912215	NM_000501.4(ELN):c.853G>A (p.Val285Met)	ELN (V285M +6 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +2 more	GConflicting classifications of pathogenicity
Select item 360638	NM_000501.4(ELN):c.861G>A (p.Gly287=)	ELN	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 1 +3 more	GConflicting classifications of pathogenicity
Select item 360639	NM_000501.4(ELN):c.886G>A (p.Ala296Thr)	ELN (A296T +6 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 1 +1 more	GBenign/Likely benign
Select item 360640	NM_000501.4(ELN):c.921A>G (p.Ala307=)	ELN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 360641	NM_000501.4(ELN):c.930C>T (p.Ala310=)	ELN	Single nucleotide variant (synonymous variant)	ELN-related condition +3 more	GConflicting classifications of pathogenicity
Select item 360642	NM_000501.4(ELN):c.931G>A (p.Ala311Thr)	ELN (A311T +6 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +2 more	GBenign
Select item 360645	NM_000501.4(ELN):c.1096+12TG[22]	ELN	Microsatellite (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 360644	NM_000501.4(ELN):c.1096+12TG[21]	ELN	Microsatellite (intron variant)	Cutis laxa, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 360643	NM_000501.4(ELN):c.1096+12TG[20]	ELN	Microsatellite (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 360647	NM_000501.4(ELN):c.1096+12TG[16]	ELN	Microsatellite (intron variant)	Cutis laxa, autosomal dominant +1 more	GBenign
Select item 360646	NM_000501.4(ELN):c.1096+12TG[18]	ELN	Microsatellite (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 908212	NM_000501.4(ELN):c.1097-8C>G	ELN	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 1 +1 more	GUncertain significance
Select item 360648	NM_000501.4(ELN):c.1232T>G (p.Val411Gly)	ELN (V411G +6 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +2 more	GBenign
Select item 360649	NM_000501.4(ELN):c.1234G>A (p.Gly412Arg)	ELN (G412R +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 43582	NM_000501.4(ELN):c.1264G>A (p.Gly422Ser)	ELN (G422S +4 more)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal dominant +2 more	GBenign/Likely benign
Select item 195473	NM_000501.4(ELN):c.1269C>T (p.Val423=)	ELN	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 43583	NM_000501.4(ELN):c.1269C>G (p.Val423=)	ELN	Single nucleotide variant (synonymous variant +1 more)	ELN-related condition +4 more	GLikely benign
Select item 360650	NM_000501.4(ELN):c.1271G>A (p.Gly424Glu)	ELN (G424E +4 more)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis +1 more	GBenign
Select item 360651	NM_000501.4(ELN):c.1281C>T (p.Pro427=)	ELN	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa, autosomal dominant 1 +1 more	GConflicting classifications of pathogenicity
Select item 360652	NM_000501.4(ELN):c.1317C>T (p.Pro439=)	ELN	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 1 +1 more	GBenign/Likely benign
Select item 360653	NM_000501.4(ELN):c.1338C>T (p.Ala446=)	ELN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 360654	NM_000501.4(ELN):c.1339G>A (p.Ala447Thr)	ELN (A447T +6 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +3 more	GUncertain significance
Select item 2580221	NM_000501.4(ELN):c.1357+1G>A	ELN	Single nucleotide variant (splice donor variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 416912	NM_000501.4(ELN):c.1388A>G (p.Lys463Arg)	ELN (K463R +3 more)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis +2 more	GBenign
Select item 908281	NM_000501.4(ELN):c.1467C>T (p.Val489=)	ELN, ELN-AS1	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 1 +1 more	GBenign/Likely benign
Select item 360655	NM_000501.4(ELN):c.1470T>C (p.Gly490=)	ELN, ELN-AS1	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 360656	NM_000501.4(ELN):c.1507G>A (p.Val503Met)	ELN, ELN-AS1 (V503M +11 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 1 +2 more	GBenign/Likely benign
Select item 213164	NM_000501.4(ELN):c.1566T>A (p.Gly522=)	ELN, ELN-AS1	Single nucleotide variant (synonymous variant)	ELN-related condition +4 more	GBenign/Likely benign
Select item 667232	NM_000501.4(ELN):c.1606G>T (p.Ala536Ser)	ELN-AS1, ELN (A447S +10 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 213165	NM_000501.4(ELN):c.1622-13C>T	ELN, ELN-AS1	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis +1 more	GBenign/Likely benign
Select item 911120	NM_000501.4(ELN):c.1640G>A (p.Gly547Asp)	ELN, ELN-AS1 (G458D +11 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +1 more	GConflicting classifications of pathogenicity
Select item 911121	NM_000501.4(ELN):c.1674C>T (p.Gly558=)	ELN, ELN-AS1	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis +1 more	GBenign/Likely benign
Select item 177898	NM_000501.4(ELN):c.1741G>C (p.Gly581Arg)	ELN, ELN-AS1 (G581R +11 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant +3 more	GBenign/Likely benign
Select item 911325	NM_000501.4(ELN):c.1819G>C (p.Gly607Arg)	ELN (G578R +11 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +1 more	GConflicting classifications of pathogenicity
Select item 360657	NM_000501.4(ELN):c.1821G>C (p.Gly607=)	ELN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 360658	NM_000501.4(ELN):c.1825C>T (p.Leu609Phe)	ELN (L609F +11 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 1 +3 more	GConflicting classifications of pathogenicity
Select item 226631	NM_000501.4(ELN):c.1828G>A (p.Gly610Ser)	ELN (G610S +11 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 360659	NM_000501.4(ELN):c.1861G>A (p.Ala621Thr)	ELN (A621T +11 more)	Single nucleotide variant (missense variant)	ELN-related condition +3 more	GConflicting classifications of pathogenicity
Select item 360660	NM_000501.4(ELN):c.1909G>A (p.Ala637Thr)	ELN (A637T +11 more)	Single nucleotide variant (missense variant)	ELN-related condition +3 more	GConflicting classifications of pathogenicity
Select item 908344	NM_000501.4(ELN):c.1941C>A (p.Leu647=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 696810	NM_000501.4(ELN):c.1994-7T>G	ELN	Single nucleotide variant (intron variant)	ELN-related condition +3 more	GConflicting classifications of pathogenicity
Select item 213166	NM_000501.4(ELN):c.1999C>T (p.Pro667Ser)	ELN (P667S +11 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +3 more	GConflicting classifications of pathogenicity
Select item 360661	NM_000501.4(ELN):c.2077C>T (p.Pro693Ser)	ELN (P693S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 213167	NM_000501.4(ELN):c.2086+5G>C	ELN	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 360662	NM_000501.4(ELN):c.2109C>T (p.Phe703=)	ELN	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant +2 more	GLikely benign
Select item 911185	NM_000501.4(ELN):c.2131+14C>T	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis +1 more	GConflicting classifications of pathogenicity
Select item 911186	NM_000501.4(ELN):c.2132-5T>A	ELN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 43585	NM_000501.4(ELN):c.2132G>A (p.Gly711Asp)	ELN (G711D +12 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant +3 more	GBenign/Likely benign
Select item 360663	NM_000501.4(ELN):c.*95C>T	ELN	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, autosomal dominant 1 +1 more	GUncertain significance
Select item 908408	NM_000501.4(ELN):c.*102C>T	ELN	Single nucleotide variant (3 prime UTR variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 908409	NM_000501.4(ELN):c.*171C>T	ELN	Single nucleotide variant (3 prime UTR variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 360664	NM_000501.4(ELN):c.*172G>A	ELN	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, autosomal dominant 1 +2 more	GBenign/Likely benign
Select item 360665	NM_000501.4(ELN):c.*238C>T	ELN	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, autosomal dominant 1 +1 more	GUncertain significance
Select item 360666	NM_000501.4(ELN):c.*251C>T	ELN	Single nucleotide variant (3 prime UTR variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 909257	NM_000501.4(ELN):c.*264C>A	ELN	Single nucleotide variant (3 prime UTR variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 909258	NM_000501.4(ELN):c.*358C>T	ELN	Single nucleotide variant (3 prime UTR variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 360667	NM_000501.4(ELN):c.*383T>G	ELN	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, autosomal dominant 1 +1 more	GBenign
Select item 360668	NM_000501.4(ELN):c.*429C>T	ELN	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, autosomal dominant +1 more	GLikely benign
Select item 360669	NM_000501.4(ELN):c.*458C>T	ELN	Single nucleotide variant (3 prime UTR variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 360670	NM_000501.4(ELN):c.*489G>T	ELN	Single nucleotide variant (3 prime UTR variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 360671	NM_000501.4(ELN):c.501_502insA	ELN	Insertion (3 prime UTR variant)	Cutis laxa, autosomal dominant +1 more	GBenign
Select item 911255	NM_000501.4(ELN):c.*532C>T	ELN	Single nucleotide variant (3 prime UTR variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 360672	NM_000501.4(ELN):c.*548G>A	ELN	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, autosomal dominant 1 +1 more	GBenign
Select item 360673	NM_000501.4(ELN):c.*562A>C	ELN	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, autosomal dominant 1 +1 more	GBenign
Select item 360674	NM_000501.4(ELN):c.*570G>A	ELN	Single nucleotide variant (3 prime UTR variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 908475	NM_000501.4(ELN):c.*578T>C	ELN	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, autosomal dominant 1 +1 more	GUncertain significance
Select item 908476	NM_000501.4(ELN):c.*591C>T	ELN	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, autosomal dominant 1 +1 more	GUncertain significance
Select item 360675	NM_000501.4(ELN):c.*629T>C	ELN	Single nucleotide variant (3 prime UTR variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 908477	NM_000501.4(ELN):c.*631C>T	ELN	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, autosomal dominant 1 +1 more	GUncertain significance
Select item 360676	NM_000501.4(ELN):c.*636G>A	ELN	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, autosomal dominant 1 +1 more	GBenign
Select item 909327	NM_000501.4(ELN):c.*644G>A	ELN	Single nucleotide variant (3 prime UTR variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 360677	NM_000501.4(ELN):c.*659G>C	ELN	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, autosomal dominant +1 more	GBenign
Select item 360678	NM_000501.4(ELN):c.*663C>T	ELN	Single nucleotide variant (3 prime UTR variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 910296	NM_000501.4(ELN):c.*664G>A	ELN	Single nucleotide variant (3 prime UTR variant)	Supravalvar aortic stenosis +1 more	GUncertain significance

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