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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELN
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
ELN
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
GLikely benign
ELN
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ELN
(A71V +1 more)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant 1
+3 more
GBenign/Likely benign
ELN
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 1
+3 more
GConflicting classifications of pathogenicity
ELN
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant
+3 more
GBenign/Likely benign
ELN
Single nucleotide variant
(synonymous variant +1 more)
Supravalvar aortic stenosis
+1 more
GConflicting classifications of pathogenicity
ELN
Microsatellite
(intron variant)
Cutis laxa, autosomal dominant
+1 more
GBenign
ELN
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
ELN
(V411G +6 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
+2 more
GBenign
ELN
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal dominant 1
+4 more
GLikely benign
ELN
(A455T)
Single nucleotide variant
(missense variant +1 more)
Supravalvar aortic stenosis
+1 more
GLikely benign
ELN, ELN-AS1
(V503M +11 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
+2 more
GBenign/Likely benign
ELN, ELN-AS1
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
+1 more
GBenign/Likely benign
ELN, ELN-AS1
(A504D +11 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ELN
Single nucleotide variant
(synonymous variant)
Cutis laxa, autosomal dominant 1
+2 more
GConflicting classifications of pathogenicity
ELN
(P667S +11 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 1
+3 more
GConflicting classifications of pathogenicity
ELN
(G711D +12 more)
Single nucleotide variant
(missense variant)
Supravalvar aortic stenosis
+3 more
GBenign/Likely benign
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