ClinVar for MedGen (Select 478169) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2580958	NM_000501.4(ELN):c.1325A>T (p.Gln442Leu)	ELN (Q372L +6 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 1	GUncertain significance
Select item 1805270	NM_000501.4(ELN):c.1484T>G (p.Val495Gly)	ELN, ELN-AS1 (V406G +11 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 1	GUncertain significance
Select item 1678614	NM_000501.4(ELN):c.2151del (p.Ala718fs)	ELN (A611fs +12 more)	Deletion (frameshift variant)	Supravalvar aortic stenosis +1 more	GLikely pathogenic
Select item 1458249	NM_000501.4(ELN):c.166del (p.Leu56fs)	ELN (L56fs +1 more)	Deletion (frameshift variant)	Supravalvar aortic stenosis +2 more	GPathogenic/Likely pathogenic
Select item 1437068	NM_000501.4(ELN):c.1150G>A (p.Gly384Arg)	ELN (G340R +6 more)	Single nucleotide variant (missense variant)	Williams syndrome +3 more	GUncertain significance
Select item 1416484	NM_000501.4(ELN):c.1373C>A (p.Ala458Glu)	ELN (A448E +3 more)	Single nucleotide variant (missense variant +1 more)	ELN-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1410117	NM_000501.4(ELN):c.590G>A (p.Gly197Glu)	ELN (G202E +5 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 1 +1 more	GUncertain significance
Select item 1339807	GRCh37/hg19 7q11.23(chr7:73475600-73478833)x1	ELN	Copy number loss	Cutis laxa, autosomal dominant 1 +2 more	Gnot provided
Select item 1334891	NM_000501.4(ELN):c.359G>T (p.Gly120Val)	ELN (G108V +2 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 1 +1 more	GUncertain significance
Select item 1249499	NM_000501.4(ELN):c.1414+24C>T	ELN	Single nucleotide variant (intron variant)	Cutis laxa, autosomal dominant 1 +1 more	GBenign
Select item 1201791	NM_000501.4(ELN):c.403G>A (p.Gly135Arg)	ELN (G123R +4 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +3 more	GUncertain significance
Select item 1114743	NM_000501.4(ELN):c.381G>A (p.Ala127=)	ELN	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis +3 more	GLikely benign
Select item 1008316	NM_000501.4(ELN):c.1543G>A (p.Val515Met)	ELN, ELN-AS1 (V426M +11 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
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 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 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 911186	NM_000501.4(ELN):c.2132-5T>A	ELN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely 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 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 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 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 910986	NM_000501.4(ELN):c.710G>C (p.Gly237Ala)	ELN (G223A +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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
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 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 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 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 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 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 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 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 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 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 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 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 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 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 908140	NM_000501.4(ELN):c.470-5G>A	ELN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
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 835472	NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter)	ELN (Y369* +6 more)	Single nucleotide variant (nonsense)	Supravalvar aortic stenosis +2 more	GPathogenic/Likely pathogenic
Select item 698531	NM_000501.4(ELN):c.278C>T (p.Pro93Leu)	ELN (P83L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 696295	NM_000501.4(ELN):c.1884C>T (p.Ala628=)	ELN	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity
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 585051	NM_000501.4(ELN):c.1358-199G>A	ELN (G473S)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis +5 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 568420	NM_000501.4(ELN):c.133+6G>A	ELN	Single nucleotide variant (intron variant)	not specified +2 more	GUncertain significance
Select item 524222	NM_000501.4(ELN):c.1138G>A (p.Ala380Thr)	ELN (A380T +6 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 1 +2 more	GUncertain significance
Select item 524219	NM_000501.4(ELN):c.1675G>A (p.Val559Ile)	ELN, ELN-AS1 (V559I +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 524217	NM_000501.4(ELN):c.202G>A (p.Gly68Arg)	ELN (G68R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
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 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 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 423742	NM_000501.4(ELN):c.1537G>A (p.Val513Ile)	ELN, ELN-AS1 (V513I +11 more)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 1 +3 more	GConflicting classifications of pathogenicity
Select item 423097	NM_000501.4(ELN):c.1943G>A (p.Gly648Glu)	ELN (G648E +11 more)	Single nucleotide variant (missense variant)	not provided +3 more	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 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 360684	NM_000501.4(ELN):c.*1195C>T	ELN	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, autosomal dominant 1 +1 more	GBenign
Select item 360680	NM_000501.4(ELN):c.*997G>T	ELN	Single nucleotide variant (3 prime UTR variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 360679	NM_000501.4(ELN):c.*794C>T	ELN	Single nucleotide variant (3 prime UTR variant)	Cutis laxa, autosomal dominant 1 +1 more	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 360658	NM_000501.4(ELN):c.1825C>T (p.Leu609Phe)	ELN (L609F +11 more)	Single nucleotide variant (missense variant)	not provided +2 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 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 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 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 360653	NM_000501.4(ELN):c.1338C>T (p.Ala446=)	ELN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 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 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 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 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 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 360640	NM_000501.4(ELN):c.921A>G (p.Ala307=)	ELN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 360638	NM_000501.4(ELN):c.861G>A (p.Gly287=)	ELN	Single nucleotide variant (synonymous variant)	not provided +3 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 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 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 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 360633	NM_000501.3(ELN):c.-70G>C	ELN	Single nucleotide variant	Williams syndrome +3 more	GUncertain significance
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 265121	NM_000501.4(ELN):c.2058del (p.Gly688fs)	ELN (G664fs +6 more)	Deletion (frameshift variant +1 more)	Supravalvar aortic stenosis +2 more	GPathogenic
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 213198	NM_000501.4(ELN):c.1591_1592delinsTT (p.Ala531Phe)	ELN, ELN-AS1 (A442F +10 more)	Indel (missense variant +1 more)	Cutis laxa, autosomal dominant 1 +3 more	GUncertain significance

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