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Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELN
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ELN
(G12R)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
ELN
(L15fs)
Duplication
(frameshift variant)
Supravalvar aortic stenosis
GPathogenic
ELN
(P44fs)
Deletion
(frameshift variant)
Supravalvar aortic stenosis
GPathogenic
ELN
(P58fs +1 more)
Deletion
(frameshift variant)
Supravalvar aortic stenosis
GPathogenic
ELN
(A71V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
+3 more
GBenign/Likely benign
ELN
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign/Likely benign
ELN
(L134fs +4 more)
Deletion
(frameshift variant)
Supravalvar aortic stenosis
GPathogenic
ELN
Single nucleotide variant
(intron variant)
not specified
+1 more
GUncertain significance
ELN
(P193fs +5 more)
Deletion
(frameshift variant)
Supravalvar aortic stenosis
GPathogenic
ELN
(K212* +5 more)
Single nucleotide variant
(nonsense)
Supravalvar aortic stenosis
GPathogenic
ELN
Duplication
(splice donor variant +1 more)
not specified
GUncertain significance
ELN
(T238fs +6 more)
Deletion
(frameshift variant)
Supravalvar aortic stenosis
GLikely pathogenic
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
+2 more
GPathogenic
ELN
Single nucleotide variant
(splice acceptor variant)
Supravalvar aortic stenosis
GPathogenic
ELN
(A244fs +6 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
ELN
Single nucleotide variant
(splice donor variant)
Supravalvar aortic stenosis
GPathogenic
ELN
Single nucleotide variant
(splice acceptor variant)
Supravalvar aortic stenosis
GPathogenic
ELN
Microsatellite
(intron variant)
not specified
+2 more
GBenign
ELN
Single nucleotide variant
(splice acceptor variant)
Supravalvar aortic stenosis
GPathogenic
ELN
(A336fs +6 more)
Duplication
(frameshift variant)
Supravalvar aortic stenosis
GPathogenic
ELN
Single nucleotide variant
(splice donor variant)
Dural ectasia
+7 more
GConflicting classifications of pathogenicity
ELN
Deletion
Supravalvar aortic stenosis
GLikely pathogenic
ELN
(G367fs +6 more)
Deletion
(frameshift variant)
Supravalvar aortic stenosis
GPathogenic
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
+1 more
GLikely benign
ELN
(G422S +4 more)
Single nucleotide variant
(missense variant +1 more)
Supravalvar aortic stenosis
+3 more
GBenign/Likely benign
ELN
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal dominant 1
+3 more
GLikely benign
ELN
(Q442* +6 more)
Single nucleotide variant
(nonsense)
Supravalvar aortic stenosis
+1 more
GPathogenic
ELN, ELN-AS1
(N475S)
Single nucleotide variant
(missense variant +1 more)
not specified
GConflicting classifications of pathogenicity
ELN, ELN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
ELN, ELN-AS1
(A447S +10 more)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 1
+3 more
GUncertain significance
ELN, ELN-AS1
(P497fs +11 more)
Deletion
(frameshift variant)
Supravalvar aortic stenosis
GLikely pathogenic
ELN-AS1, ELN
(G581R +11 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
ELN, ELN-AS1
(A553fs +11 more)
Deletion
(frameshift variant)
Supravalvar aortic stenosis
GPathogenic
ELN-AS1, ELN
(Y595* +11 more)
Single nucleotide variant
(nonsense)
Supravalvar aortic stenosis
GPathogenic
ELN
(G610S +11 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 1
+3 more
GBenign/Likely benign
ELN
(G620* +11 more)
Single nucleotide variant
(nonsense)
Supravalvar aortic stenosis
GPathogenic/Likely pathogenic
ELN
Single nucleotide variant
(splice donor variant)
Supravalvar aortic stenosis
GPathogenic
ELN
(G651R +11 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
(G643* +11 more)
Single nucleotide variant
(nonsense)
Supravalvar aortic stenosis
GPathogenic
ELN
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
ELN
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 1
+5 more
GBenign
ELN
(G711D +12 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
ELN
Deletion
Supravalvar aortic stenosis
GPathogenic
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