Related gene-specific medical variations for Gene (Select 2006) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371173	NM_000501.4(ELN):c.1468G>A (p.Gly490Ser)	ELN, ELN-AS1 (G401S +11 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3362601	NM_000501.4(ELN):c.583T>G (p.Phe195Val)	ELN (F151V +5 more)	Single nucleotide variant (missense variant)	Williams syndrome	GUncertain significance
Select item 3361873	NM_000501.4(ELN):c.800-3C>T	ELN	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3252406	NM_000501.4(ELN):c.1747+69C>T	ELN-AS1, ELN (H635Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3245621	NC_000007.13:g.(?_73452025)_(73457014_?)del	ELN	Deletion	Supravalvar aortic stenosis	GLikely pathogenic
Select item 3245620	NC_000007.13:g.(?_73480004)_(73483030_?)del	ELN	Deletion	Supravalvar aortic stenosis	GPathogenic
Select item 3245619	NC_000007.13:g.(?_73480004)_(73480347_?)del	ELN	Deletion	Supravalvar aortic stenosis	GUncertain significance
Select item 3238828	NM_000501.4(ELN):c.1747+2delinsGAGTTAG	ELN, ELN-AS1	Indel (nonsense +2 more)	Supravalvar aortic stenosis	GLikely pathogenic
Select item 3065893	NM_000501.4(ELN):c.1020_1049del (p.Val341_Gly350del)	ELN	Deletion (inframe_deletion)	Supravalvar aortic stenosis	GUncertain significance
Select item 3036768	NM_000501.4(ELN):c.1415-21C>T	ELN, ELN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	ELN-related disorder	GLikely benign
Select item 3029551	NM_000501.4(ELN):c.1501G>A (p.Val501Ile)	ELN, ELN-AS1 (V412I +11 more)	Single nucleotide variant (non-coding transcript variant +1 more)	ELN-related disorder	GUncertain significance
Select item 3001199	NM_000501.4(ELN):c.1747+56C>T	ELN, ELN-AS1	Single nucleotide variant (synonymous variant +1 more)	Supravalvar aortic stenosis	GLikely benign
Select item 2990896	NM_000501.4(ELN):c.1747+15G>C	ELN, ELN-AS1 (V617L)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2985340	NM_000501.4(ELN):c.1747+93C>T	ELN, ELN-AS1 (P643S)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2967786	NM_000501.4(ELN):c.1747+85C>T	ELN, ELN-AS1 (P640L)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2958782	NM_000501.4(ELN):c.1648_1674del (p.Ile550_Gly558del)	ELN, ELN-AS1	Deletion (inframe_deletion)	Supravalvar aortic stenosis	GUncertain significance
Select item 2900658	NM_000501.4(ELN):c.1434_1469del (p.479VAPGVG[1])	ELN, ELN-AS1	Deletion (non-coding transcript variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2898254	NM_000501.4(ELN):c.1532C>T (p.Pro511Leu)	ELN, ELN-AS1 (P478L +11 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2891252	NM_000501.4(ELN):c.1564G>C (p.Gly522Arg)	ELN, ELN-AS1 (G489R +11 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2890288	NM_000501.4(ELN):c.1747+32C>T	ELN, ELN-AS1	Single nucleotide variant (synonymous variant +1 more)	Supravalvar aortic stenosis	GLikely benign
Select item 2880288	NM_000501.4(ELN):c.1559G>A (p.Gly520Asp)	ELN, ELN-AS1 (G431D +11 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2877032	NM_000501.4(ELN):c.1747+104A>G	ELN, ELN-AS1	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2859412	NM_000501.4(ELN):c.1432G>A (p.Gly478Ser)	ELN, ELN-AS1 (G454S +11 more)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2855305	NM_000501.4(ELN):c.1576+2T>A	ELN, ELN-AS1	Single nucleotide variant (splice donor variant)	Supravalvar aortic stenosis	GLikely pathogenic
Select item 2836391	NM_000501.4(ELN):c.1509G>T (p.Val503=)	ELN, ELN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Supravalvar aortic stenosis	GLikely benign
Select item 2822547	NM_000501.4(ELN):c.1484T>C (p.Val495Ala)	ELN, ELN-AS1 (V462A +11 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2747874	NM_000501.4(ELN):c.1451G>A (p.Gly484Asp)	ELN, ELN-AS1 (G489D +11 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2741472	NM_000501.4(ELN):c.1748-3C>T	ELN, ELN-AS1	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2735574	NM_000501.4(ELN):c.1524T>C (p.Gly508=)	ELN, ELN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Supravalvar aortic stenosis	GLikely benign
Select item 2725933	NM_000501.4(ELN):c.1576+10A>G	ELN, ELN-AS1	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2700384	NM_000501.4(ELN):c.1577-9C>G	ELN, ELN-AS1	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2698418	NM_000501.4(ELN):c.1670_1696dup (p.Gly565_Ala566insValGlyValProGlyLeuGlyValGly)	ELN, ELN-AS1	Duplication (inframe_insertion)	Supravalvar aortic stenosis	GUncertain significance
Select item 2694443	NM_000501.4(ELN):c.1723_1724delinsTG (p.Ala575Cys)	ELN, ELN-AS1 (A486C +11 more)	Indel (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2657579	NM_000501.4(ELN):c.1747+39C>T	ELN, ELN-AS1 (L625F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2633103	NM_000501.4(ELN):c.1697del (p.Ala566fs)	ELN, ELN-AS1 (A477fs +11 more)	Deletion (frameshift variant)	ELN-related disorder	GPathogenic
Select item 2633020	NM_000501.4(ELN):c.1495C>G (p.Pro499Ala)	ELN, ELN-AS1 (P410A +11 more)	Single nucleotide variant (non-coding transcript variant +1 more)	ELN-related disorder	GUncertain significance
Select item 2628092	NM_000501.4(ELN):c.1748del (p.Val583fs)	ELN, ELN-AS1 (V494fs +11 more)	Deletion (frameshift variant)	Supravalvar aortic stenosis	GPathogenic
Select item 2581829	NM_000501.4(ELN):c.1471G>A (p.Val491Met)	ELN, ELN-AS1 (V402M +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 2579635	NM_000501.4(ELN):c.1431dup (p.Gly478fs)	ELN, ELN-AS1 (G389fs +11 more)	Duplication (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2549154	NM_000501.4(ELN):c.1598A>T (p.Lys533Met)	ELN, ELN-AS1 (K452M +10 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484100	NM_000501.4(ELN):c.1573G>A (p.Ala525Thr)	ELN, ELN-AS1 (A530T +11 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 2441207	NM_000501.4(ELN):c.251C>A (p.Ala84Glu)	ELN (A72E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441206	NM_000501.4(ELN):c.1639G>A (p.Gly547Ser)	ELN, ELN-AS1 (G458S +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440030	NM_000501.4(ELN):c.134-1G>A	ELN	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GLikely pathogenic
Select item 2418095	NM_000501.4(ELN):c.1747+107G>C	ELN, ELN-AS1	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2416980	NM_000501.4(ELN):c.1415-16C>T	ELN, ELN-AS1 (L473F)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	GLikely benign
Select item 2416136	NM_000501.4(ELN):c.1740C>T (p.Phe580=)	ELN, ELN-AS1	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2310922	NM_000501.4(ELN):c.1517G>T (p.Gly506Val)	ELN, ELN-AS1 (G496V +11 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2299409	NM_000501.4(ELN):c.1661G>A (p.Gly554Glu)	ELN, ELN-AS1 (G530E +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2183524	NM_000501.4(ELN):c.1536C>T (p.Gly512=)	ELN, ELN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Supravalvar aortic stenosis	GLikely benign
Select item 2182592	NM_000501.4(ELN):c.1668T>C (p.Gly556=)	ELN, ELN-AS1	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2159820	NM_000501.4(ELN):c.1576+8T>C	ELN, ELN-AS1	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 2141883	NM_000501.4(ELN):c.1670_1696del (p.Val557_Gly565del)	ELN, ELN-AS1	Deletion (inframe_deletion)	Supravalvar aortic stenosis	GUncertain significance
Select item 2141760	NM_000501.4(ELN):c.1528G>T (p.Ala510Ser)	ELN, ELN-AS1 (A421S +11 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2080289	NM_000501.4(ELN):c.1747+71C>A	ELN, ELN-AS1 (H635Q)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 2074756	NM_000501.4(ELN):c.1741G>A (p.Gly581Arg)	ELN, ELN-AS1 (G492R +11 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +1 more	GConflicting classifications of pathogenicity
Select item 2051937	NM_000501.4(ELN):c.1518_1535dup (p.Gly518_Ile519insValGlyValAlaProGly)	ELN, ELN-AS1	Duplication (inframe_insertion)	Supravalvar aortic stenosis	GUncertain significance
Select item 2049711	NM_000501.4(ELN):c.1748-18A>G	ELN, ELN-AS1	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2038437	NM_000501.4(ELN):c.1748-20C>T	ELN, ELN-AS1	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GBenign
Select item 2036645	NM_000501.4(ELN):c.1576+6T>G	ELN, ELN-AS1	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 2017099	NM_000501.4(ELN):c.1654G>T (p.Gly552Ter)	ELN, ELN-AS1 (G463* +11 more)	Single nucleotide variant (nonsense)	Supravalvar aortic stenosis	GPathogenic
Select item 2008904	NM_000501.4(ELN):c.1539del (p.Gly514fs)	ELN, ELN-AS1 (G425fs +11 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1998058	NM_000501.4(ELN):c.1706del (p.Pro569fs)	ELN, ELN-AS1 (P480fs +11 more)	Deletion (frameshift variant)	Supravalvar aortic stenosis	GPathogenic
Select item 1995066	NM_000501.4(ELN):c.1747+100G>C	ELN, ELN-AS1	Single nucleotide variant (intron variant +1 more)	Supravalvar aortic stenosis	GLikely pathogenic
Select item 1978415	NM_000501.4(ELN):c.1727G>T (p.Gly576Val)	ELN, ELN-AS1 (G547V +11 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 1964658	NM_000501.4(ELN):c.1459C>A (p.Pro487Thr)	ELN, ELN-AS1 (P492T +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1929510	NM_000501.4(ELN):c.1747+22G>A	ELN, ELN-AS1 (R619Q)	Single nucleotide variant (intron variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 1927258	NM_000501.4(ELN):c.1747+89A>G	ELN, ELN-AS1	Single nucleotide variant (synonymous variant +1 more)	Supravalvar aortic stenosis	GLikely benign
Select item 1924940	NM_000501.4(ELN):c.1621+11C>T	ELN, ELN-AS1	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 1914787	NM_000501.4(ELN):c.1745C>T (p.Ala582Val)	ELN, ELN-AS1 (A568V +11 more)	Single nucleotide variant (missense variant)	ELN-related disorder +1 more	GUncertain significance
Select item 1914634	NM_000501.4(ELN):c.1542C>T (p.Gly514=)	ELN, ELN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Supravalvar aortic stenosis	GLikely benign
Select item 1914477	NM_000501.4(ELN):c.1758C>T (p.Ala586=)	ELN, ELN-AS1	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GLikely benign
Select item 1908382	NM_000501.4(ELN):c.1747+86C>T	ELN, ELN-AS1	Single nucleotide variant (synonymous variant +1 more)	Supravalvar aortic stenosis	GLikely benign
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 1710780	NM_000501.4(ELN):c.1747+36G>A	ELN-AS1, ELN (E624K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1703186	NM_000501.4(ELN):c.1747G>A (p.Val583Ile)	ELN, ELN-AS1 (G612S +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700362	NM_000501.4(ELN):c.1523G>A (p.Gly508Asp)	ELN, ELN-AS1 (G419D +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684714	NM_000501.4(ELN):c.1489_1506del (p.Leu497_Gly502del)	ELN, ELN-AS1	Deletion (inframe_deletion)	not specified	GUncertain significance
Select item 1679781	NM_000501.4(ELN):c.1785T>C (p.Tyr595=)	ELN, ELN-AS1	Single nucleotide variant (synonymous variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 1678163	NM_000501.4(ELN):c.1747+100del	ELN, ELN-AS1	Deletion (intron variant +1 more)	not provided	GLikely pathogenic
Select item 1628098	NM_000501.4(ELN):c.1577-4T>C	ELN, ELN-AS1	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GLikely benign
Select item 1576236	NM_000501.4(ELN):c.1747+14A>G	ELN, ELN-AS1	Single nucleotide variant (synonymous variant +1 more)	Supravalvar aortic stenosis	GLikely benign
Select item 1571293	NM_000501.4(ELN):c.1621+12G>A	ELN, ELN-AS1	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis	GBenign
Select item 1499920	NM_000501.4(ELN):c.1507G>T (p.Val503Leu)	ELN, ELN-AS1 (V414L +11 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 1470371	NM_000501.4(ELN):c.1463G>A (p.Gly488Asp)	ELN, ELN-AS1 (G459D +11 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 1465078	NM_000501.4(ELN):c.1747+98G>A	ELN, ELN-AS1	Single nucleotide variant (synonymous variant +1 more)	Supravalvar aortic stenosis	GUncertain significance
Select item 1447530	NM_000501.4(ELN):c.1435G>A (p.Val479Met)	ELN, ELN-AS1 (V469M +11 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis	GUncertain significance
Select item 1426684	NM_000501.4(ELN):c.1747+105T>C	ELN, ELN-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1414514	NM_000501.4(ELN):c.1747+21C>T	ELN-AS1, ELN (R619W)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis	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 1327646	NM_000501.4(ELN):c.1577-2A>T	ELN, ELN-AS1	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1324326	NM_000501.4(ELN):c.1228G>T (p.Gly410Ter)	ELN (G366* +6 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1314459	NM_000501.4(ELN):c.1747+93C>A	ELN, ELN-AS1 (P643T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1313669	NM_000501.4(ELN):c.1488_1523del (p.Leu497_Gly508del)	ELN, ELN-AS1	Deletion (inframe_deletion)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 1310675	NM_000501.4(ELN):c.1683ACTTGGAGTTGGTGCTGGTGTTCCTGG[3] (p.562LGVGAGVPG[3])	ELN, ELN-AS1	Microsatellite (inframe_insertion)	not provided +1 more	GUncertain significance
Select item 1284960	NM_000501.4(ELN):c.1778C>A (p.Ala593Asp)	ELN, ELN-AS1 (A504D +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217528	NM_000501.4(ELN):c.1464_1517del (p.Leu497_Gly514del)	ELN, ELN-AS1	Deletion (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 1215941	NM_000501.4(ELN):c.1786+98C>T	ELN, ELN-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214823	NM_000501.4(ELN):c.1742G>A (p.Gly581Glu)	ELN, ELN-AS1 (G492E +11 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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