"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ELN"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 360633	NM_000501.3(ELN):c.-70G>C	ELN	Single nucleotide variant	Supravalvar aortic stenosis +3 more	GUncertain significance
Select item 872754	NM_000501.4(ELN):c.35G>T (p.Gly12Val)	ELN (G12V)	Single nucleotide variant (missense variant)	Cutis laxa, autosomal dominant 1 +3 more	GConflicting classifications of pathogenicity
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 524217	NM_000501.4(ELN):c.202G>A (p.Gly68Arg)	ELN (G68R +1 more)	Single nucleotide variant (missense variant +1 more)	Cutis laxa, autosomal dominant 1 +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 1114743	NM_000501.4(ELN):c.381G>A (p.Ala127=)	ELN	Single nucleotide variant (synonymous variant)	Cutis laxa, autosomal dominant 1 +3 more	GLikely benign
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 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 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 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 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 585051	NM_000501.4(ELN):c.1358-199G>A	ELN (G473S)	Single nucleotide variant (missense variant +1 more)	ELN-related disorder +5 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)	Supravalvar aortic stenosis +4 more	GConflicting classifications of pathogenicity
Select item 1008316	NM_000501.4(ELN):c.1543G>A (p.Val515Met)	ELN-AS1, ELN (V426M +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
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
Select item 524219	NM_000501.4(ELN):c.1675G>A (p.Val559Ile)	ELN, ELN-AS1 (V559I +11 more)	Single nucleotide variant (missense variant)	Williams syndrome +5 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 213167	NM_000501.4(ELN):c.2086+5G>C	ELN	Single nucleotide variant (intron variant)	not specified +4 more	GBenign