"Ambry Genetics"[submitter] AND "ELN"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1301436	NM_000501.4(ELN):c.20C>T (p.Ala7Val)	ELN (A7V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2140672	NM_000501.4(ELN):c.74G>A (p.Arg25Gln)	ELN (R25Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 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 2151276	NM_000501.4(ELN):c.263C>T (p.Pro88Leu)	ELN (P78L +2 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
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 450301	NM_000501.4(ELN):c.473C>T (p.Ala158Val)	ELN (A158V +4 more)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis +3 more	GConflicting classifications of pathogenicity
Select item 3088360	NM_000501.4(ELN):c.482C>A (p.Pro161His)	ELN (P151H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2384667	NM_000501.4(ELN):c.592C>T (p.Pro198Ser)	ELN (P176S +5 more)	Single nucleotide variant (missense 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)	Supravalvar aortic stenosis +3 more	GConflicting classifications of pathogenicity
Select item 43586	NM_000501.4(ELN):c.800-3C>G	ELN	Single nucleotide variant (intron variant)	Supravalvar aortic stenosis +2 more	GPathogenic
Select item 2327676	NM_000501.4(ELN):c.823C>T (p.Pro275Ser)	ELN (P231S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985170	NM_000501.4(ELN):c.901C>G (p.Pro301Ala)	ELN (P257A +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1306681	NM_000501.4(ELN):c.992C>T (p.Pro331Leu)	ELN (P287L +6 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +2 more	GUncertain significance
Select item 2408028	NM_000501.4(ELN):c.1018G>A (p.Gly340Ser)	ELN (G296S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2186940	NM_000501.4(ELN):c.1088C>T (p.Ala363Val)	ELN (A319V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2278448	NM_000501.4(ELN):c.1097G>A (p.Gly366Glu)	ELN (G356E +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3275191	NM_000501.4(ELN):c.1132G>T (p.Ala378Ser)	ELN (A364S +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289492	NM_000501.4(ELN):c.1171G>T (p.Val391Phe)	ELN (V355F +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1013004	NM_000501.4(ELN):c.1202C>T (p.Ala401Val)	ELN (A357V +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1217552	NM_000501.4(ELN):c.1216G>A (p.Gly406Ser)	ELN (G362S +6 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2483027	NM_000501.4(ELN):c.1243C>T (p.Pro415Ser)	ELN (P410S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2194143	NM_000501.4(ELN):c.1270G>A (p.Gly424Arg)	ELN (G414R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1304697	NM_000501.4(ELN):c.1288G>A (p.Gly430Arg)	ELN (G416R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2051576	NM_000501.4(ELN):c.1303G>A (p.Val435Ile)	ELN (V435I +4 more)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 2271844	NM_000501.4(ELN):c.1321G>A (p.Ala441Thr)	ELN (A441T +6 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 681179	NM_000501.4(ELN):c.1322C>T (p.Ala441Val)	ELN (A371V +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 521602	NM_000501.4(ELN):c.1357+1G>T	ELN	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1057345	NM_000501.4(ELN):c.1366A>G (p.Thr456Ala)	ELN (T446A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2233210	NM_000501.4(ELN):c.1367C>A (p.Thr456Asn)	ELN (T456N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2509891	NM_000501.4(ELN):c.1396G>A (p.Ala466Thr)	ELN (A471T +3 more)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis +2 more	GUncertain significance
Select item 2311523	NM_000501.4(ELN):c.1402G>A (p.Ala468Thr)	ELN (A458T +3 more)	Single nucleotide variant (missense variant +1 more)	Supravalvar aortic stenosis +1 more	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 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 423742	NM_000501.4(ELN):c.1537G>A (p.Val513Ile)	ELN, ELN-AS1 (V513I +11 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1008316	NM_000501.4(ELN):c.1543G>A (p.Val515Met)	ELN, ELN-AS1 (V426M +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	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 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 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 524219	NM_000501.4(ELN):c.1675G>A (p.Val559Ile)	ELN, ELN-AS1 (V559I +11 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +5 more	GConflicting classifications of pathogenicity
Select item 1113397	NM_000501.4(ELN):c.1697C>T (p.Ala566Val)	ELN, ELN-AS1 (A477V +11 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +2 more	GConflicting classifications of pathogenicity
Select item 2613731	NM_000501.4(ELN):c.1790C>T (p.Ala597Val)	ELN (A578V +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490329	NM_000501.4(ELN):c.1792G>C (p.Ala598Pro)	ELN (A517P +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 360658	NM_000501.4(ELN):c.1825C>T (p.Leu609Phe)	ELN (L609F +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2193893	NM_000501.4(ELN):c.1870G>A (p.Ala624Thr)	ELN (A543T +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1701527	NM_000501.4(ELN):c.1873G>A (p.Ala625Thr)	ELN (A536T +11 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3275192	NM_000501.4(ELN):c.1906G>A (p.Ala636Thr)	ELN (A588T +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1320620	NM_000501.4(ELN):c.1916T>C (p.Phe639Ser)	ELN (F550S +11 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1355624	NM_000501.4(ELN):c.1946G>A (p.Gly649Glu)	ELN (G560E +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2527245	NM_000501.4(ELN):c.1961G>A (p.Gly654Glu)	ELN (G630E +11 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +2 more	GUncertain significance
Select item 3088358	NM_000501.4(ELN):c.2014G>T (p.Ala672Ser)	ELN (A583S +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1523984	NM_000501.4(ELN):c.2051G>A (p.Gly684Asp)	ELN (G684D +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2236166	NM_000501.4(ELN):c.2089G>A (p.Val697Met)	ELN (V673M +12 more)	Single nucleotide variant (missense variant)	Supravalvar aortic stenosis +1 more	GUncertain significance
Select item 2158396	NM_000501.4(ELN):c.2162G>A (p.Arg721Gln)	ELN (R697Q +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 53