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Links from MedGen

Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBLN5
(C144W +3 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant
GUncertain significance
FBLN5
(R228* +3 more)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
FBLN5
(L301M +3 more)
Single nucleotide variant
(missense variant)
Macular degeneration, age-related, 3
+2 more
GUncertain significance
ELN
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, autosomal dominant
+1 more
GBenign
ELN
Duplication
(3 prime UTR variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
Duplication
(3 prime UTR variant)
Supravalvar aortic stenosis
+1 more
GUncertain significance
ELN
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, autosomal dominant
+1 more
GBenign
ELN
Insertion
(3 prime UTR variant)
Cutis laxa, autosomal dominant
+1 more
GBenign
ELN
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, autosomal dominant
+1 more
GLikely benign
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
+2 more
GLikely benign
ELN
Microsatellite
(intron variant)
Cutis laxa, autosomal dominant
+1 more
GBenign
ELN
Microsatellite
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ELN
Microsatellite
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ELN
Microsatellite
(intron variant)
Cutis laxa, autosomal dominant
+1 more
GConflicting classifications of pathogenicity
ELN
Microsatellite
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ELN
Single nucleotide variant
(synonymous variant)
Supravalvar aortic stenosis
+3 more
GConflicting classifications of pathogenicity
ELN
Single nucleotide variant
Supravalvar aortic stenosis
+3 more
GUncertain significance
ELN
Single nucleotide variant
Supravalvar aortic stenosis
+1 more
GBenign
ELN
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign
ELN, ELN-AS1
Single nucleotide variant
(intron variant)
Supravalvar aortic stenosis
+1 more
GBenign/Likely benign
ELN, ELN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
ELN, ELN-AS1
(G581R +11 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant
+3 more
GBenign/Likely benign
ELN
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant
+3 more
GBenign/Likely benign
ELN
(G711D +12 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
ELN
(G422S +4 more)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal dominant
+2 more
GBenign/Likely benign
FBLN5
(C217R +3 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant
+1 more
GConflicting classifications of pathogenicity
FBLN5
(G202R +3 more)
Single nucleotide variant
(missense variant)
Cutis laxa
+2 more
GConflicting classifications of pathogenicity
FBLN5
(E391* +3 more)
Single nucleotide variant
(nonsense)
Cutis laxa, autosomal dominant
+1 more
GConflicting classifications of pathogenicity
FBLN5
(S227P +3 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant
+1 more
GConflicting classifications of pathogenicity
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