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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBLN5
(N123T +3 more)
Single nucleotide variant
(missense variant)
Macular degeneration, age-related, 3
+3 more
GUncertain significance
FBLN5
(V436E +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FBLN5
(T48I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FBLN5
(T141I +3 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 2
GBenign
FBLN5
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal dominant 2
+1 more
GConflicting classifications of pathogenicity
FBLN5
(A377V +3 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant 2
GUncertain significance
FBLN5
(S401fs +5 more)
Deletion
(frameshift variant)
Cutis laxa, autosomal recessive, type 1A
+2 more
GPathogenic
FBLN5
(R395W +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FBLN5
(G90S +3 more)
Single nucleotide variant
(missense variant)
Cutis laxa
+2 more
GConflicting classifications of pathogenicity
FBLN5
Single nucleotide variant
(synonymous variant)
Cutis laxa
+5 more
GBenign
FBLN5
Duplication
Cutis laxa, autosomal dominant 2
GPathogenic
FBLN5
(R351W +3 more)
Single nucleotide variant
(missense variant)
Macular degeneration, age-related, 3
+6 more
GUncertain significance
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