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Links from MedGen

Items: 1 to 100 of 119

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELN
(Q372L +6 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 1
GUncertain significance
ELN, ELN-AS1
(V406G +11 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 1
GUncertain significance
ELN
(A611fs +12 more)
Deletion
(frameshift variant)
Supravalvar aortic stenosis
+1 more
GLikely pathogenic
ELN
(L56fs +1 more)
Deletion
(frameshift variant)
Supravalvar aortic stenosis
+2 more
GPathogenic/Likely pathogenic
ELN
(G340R +6 more)
Single nucleotide variant
(missense variant)
Williams syndrome
+3 more
GUncertain significance
ELN
(A448E +3 more)
Single nucleotide variant
(missense variant +1 more)
Supravalvar aortic stenosis
+4 more
GConflicting classifications of pathogenicity
ELN
(G202E +5 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 1
+1 more
GUncertain significance
ELN
Copy number loss
Cutis laxa, autosomal dominant 1
+2 more
Gnot provided
ELN
(G108V +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 1
+1 more
GUncertain significance
ELN
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 1
+1 more
GBenign
ELN
(G123R +4 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
+3 more
GUncertain significance
ELN
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 1
+3 more
GLikely benign
ELN-AS1, ELN
(V426M +11 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
ELN
(V285M +6 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 1
+2 more
GConflicting classifications of pathogenicity
ELN
(G578R +11 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
+1 more
GConflicting classifications of pathogenicity
ELN
Single nucleotide variant
(3 prime UTR variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
+1 more
GConflicting classifications of pathogenicity
ELN, ELN-AS1
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
+1 more
GBenign/Likely benign
ELN, ELN-AS1
(G458D +11 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
+1 more
GConflicting classifications of pathogenicity
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
(G223A +6 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
+3 more
GConflicting classifications of pathogenicity
ELN
Single nucleotide variant
(3 prime UTR variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
Single nucleotide variant
(synonymous variant +1 more)
Supravalvar aortic stenosis
+1 more
GConflicting classifications of pathogenicity
ELN
(F165L +4 more)
Single nucleotide variant
(missense variant +1 more)
Supravalvar aortic stenosis
+1 more
GConflicting classifications of pathogenicity
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
+1 more
GBenign/Likely benign
ELN
Single nucleotide variant
(3 prime UTR variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
Single nucleotide variant
(3 prime UTR variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
Single nucleotide variant
(3 prime UTR variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, autosomal dominant 1
+1 more
GUncertain significance
ELN
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, autosomal dominant 1
+1 more
GUncertain significance
ELN
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, autosomal dominant 1
+1 more
GUncertain significance
ELN
Single nucleotide variant
(3 prime UTR variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
Single nucleotide variant
(3 prime UTR variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN, ELN-AS1
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 1
+1 more
GBenign/Likely benign
ELN
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 1
+1 more
GUncertain significance
ELN
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
ELN
(G12V)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 1
+3 more
GConflicting classifications of pathogenicity
ELN
(Y369* +6 more)
Single nucleotide variant
(nonsense)
Supravalvar aortic stenosis
+2 more
GPathogenic/Likely pathogenic
ELN
(P83L +2 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 1
+2 more
GConflicting classifications of pathogenicity
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
+3 more
GConflicting classifications of pathogenicity
ELN
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 1
+2 more
GConflicting classifications of pathogenicity
ELN-AS1, ELN
(A447S +10 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
ELN
(G473S)
Single nucleotide variant
(missense variant +1 more)
ELN-related disorder
+5 more
GUncertain significance
ELN
(A256V +6 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 1
+1 more
GConflicting classifications of pathogenicity
ELN
Single nucleotide variant
(intron variant)
not specified
+2 more
GUncertain significance
ELN
(A380T +6 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 1
+2 more
GUncertain significance
ELN, ELN-AS1
(V559I +11 more)
Single nucleotide variant
(missense variant)
Williams syndrome
+5 more
GConflicting classifications of pathogenicity
ELN
(G68R +1 more)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 1
+4 more
GUncertain significance
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
+4 more
GBenign/Likely benign
ELN
(A158V +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ELN
(V154M +4 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
+3 more
GConflicting classifications of pathogenicity
ELN, ELN-AS1
(V513I +11 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ELN
(G648E +11 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
ELN
(K463R +3 more)
Single nucleotide variant
(missense variant +1 more)
Supravalvar aortic stenosis
+2 more
GBenign
ELN
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ELN
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, autosomal dominant 1
+1 more
GBenign
ELN
Single nucleotide variant
(3 prime UTR variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, autosomal dominant 1
+1 more
GUncertain significance
ELN
Single nucleotide variant
(3 prime UTR variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, autosomal dominant 1
+1 more
GBenign
ELN
Single nucleotide variant
(3 prime UTR variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
Single nucleotide variant
(3 prime UTR variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, autosomal dominant 1
+1 more
GBenign
ELN
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, autosomal dominant 1
+1 more
GBenign
ELN
Single nucleotide variant
(3 prime UTR variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
Single nucleotide variant
(3 prime UTR variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, autosomal dominant 1
+1 more
GBenign
ELN
Single nucleotide variant
(3 prime UTR variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, autosomal dominant 1
+1 more
GUncertain significance
ELN
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, autosomal dominant 1
+2 more
GBenign/Likely benign
ELN
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, autosomal dominant 1
+1 more
GUncertain significance
ELN
(P693S +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ELN
(A637T +11 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 1
+3 more
GConflicting classifications of pathogenicity
ELN
(A621T +11 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 1
+3 more
GConflicting classifications of pathogenicity
ELN
(L609F +11 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
+3 more
GConflicting classifications of pathogenicity
ELN
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ELN, ELN-AS1
(V503M +11 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 1
+2 more
GBenign/Likely benign
ELN, ELN-AS1
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
(A447T +6 more)
Single nucleotide variant
(missense variant)
ELN-related disorder
+3 more
GUncertain significance
ELN
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
+1 more
GBenign/Likely benign
ELN
Single nucleotide variant
(synonymous variant +1 more)
Supravalvar aortic stenosis
+1 more
GConflicting classifications of pathogenicity
ELN
(G424E +4 more)
Single nucleotide variant
(missense variant +1 more)
Supravalvar aortic stenosis
+1 more
GBenign
ELN
(G412R +6 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ELN
(V411G +6 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
+2 more
GBenign
ELN
(A311T +6 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
+2 more
GBenign
ELN
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ELN
(A296T +6 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 1
+1 more
GBenign/Likely benign
ELN
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 1
+3 more
GConflicting classifications of pathogenicity
ELN
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
ELN
(A110T +2 more)
Single nucleotide variant
(missense variant)
ELN-related disorder
+4 more
GConflicting classifications of pathogenicity
ELN
(F87L +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
+1 more
GConflicting classifications of pathogenicity
ELN
Single nucleotide variant
Supravalvar aortic stenosis
+3 more
GUncertain significance
ELN
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ELN
(G664fs +6 more)
Deletion
(frameshift variant +1 more)
Supravalvar aortic stenosis
+2 more
GPathogenic
ELN
(G610S +11 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
ELN, ELN-AS1
(A442F +10 more)
Indel
(missense variant +1 more)
Cutis laxa, autosomal dominant 1
+3 more
GUncertain significance
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