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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EFEMP2, MUS81
(R409Q)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
(A397T)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GPathogenic
EFEMP2
(D359fs)
Duplication
(frameshift variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GPathogenic
EFEMP2
(R279C)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GLikely pathogenic
EFEMP2
(C267Y)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GPathogenic
EFEMP2
(I259V)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+4 more
GBenign
EFEMP2
(D203A)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
EFEMP2
(Q193fs)
Deletion
(frameshift variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GPathogenic
EFEMP2
(E126V)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GPathogenic
EFEMP2
(E126K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
EFEMP2
(E57K)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GPathogenic
FBLN5
(E391* +3 more)
Single nucleotide variant
(nonsense)
Cutis laxa, autosomal dominant
+1 more
GConflicting classifications of pathogenicity
FBLN5
(D364Y +3 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal recessive, type 1A
Gnot provided
FBLN5
(S227P +3 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant
+1 more
GConflicting classifications of pathogenicity
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
(C144W +3 more)
Single nucleotide variant
(missense variant)
Cutis laxa, autosomal dominant
GUncertain significance
FBLN5
Indel
Cutis laxa, autosomal recessive, type 1A
Gnot provided
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