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Items: 1 to 100 of 503

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006222, LOC130006223
+282 more
Copy number loss
See cases
GPathogenic
EFEMP2, MUS81
Single nucleotide variant
(synonymous variant +1 more)
not specified
GBenign
EFEMP2, MUS81
Single nucleotide variant
(synonymous variant +1 more)
not specified
GBenign
LOC130006108, LOC130006109
+72 more
Duplication
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
Single nucleotide variant
(3 prime UTR variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GBenign
MUS81, EFEMP2
Single nucleotide variant
(3 prime UTR variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
Single nucleotide variant
(3 prime UTR variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
Single nucleotide variant
(3 prime UTR variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
Duplication
(3 prime UTR variant)
Cutis laxa, recessive
GUncertain significance
EFEMP2, MUS81
Single nucleotide variant
(3 prime UTR variant)
Cutis laxa, autosomal recessive, type 1B
+1 more
GConflicting classifications of pathogenicity
EFEMP2, MUS81
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
EFEMP2, MUS81
Single nucleotide variant
(3 prime UTR variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
(T442N)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
+1 more
GUncertain significance
MUS81, EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
EFEMP2, MUS81
(F437L)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
(V436I)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
EFEMP2, MUS81
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2, MUS81
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2, MUS81
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2, MUS81
(S430Y)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
MUS81, EFEMP2
(R427fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
EFEMP2, MUS81
(A428V)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
(R427Q)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
MUS81, EFEMP2
(R427W)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
+1 more
GUncertain significance
EFEMP2, MUS81
(M417I)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
EFEMP2, MUS81
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2, MUS81
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2, MUS81
(V412M)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
(V412L)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
(V412L)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
EFEMP2, MUS81
(E410Q)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
(R409Q)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
(R409W)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
MUS81, EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2, MUS81
(G407V)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2, MUS81
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
(T406M)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
(V405L)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
MUS81, EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GLikely benign
EFEMP2, MUS81
(P404R)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
EFEMP2, MUS81
(P404L)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
(P404T)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
MUS81, EFEMP2
(A402T)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GLikely benign
EFEMP2, MUS81
Deletion
(splice acceptor variant)
Cardiovascular phenotype
GLikely pathogenic
EFEMP2, MUS81
(M398L)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
EFEMP2, MUS81
(A397G)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
EFEMP2, MUS81
(A397T)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GPathogenic
EFEMP2, MUS81
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
EFEMP2, MUS81
(V395A)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
EFEMP2, MUS81
(V395F)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
EFEMP2, MUS81
(V395L)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
(V395I)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
EFEMP2, MUS81
(N394del)
Microsatellite
(inframe_deletion +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
EFEMP2, MUS81
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GLikely benign
EFEMP2, MUS81
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
EFEMP2, MUS81
(I392fs)
Deletion
(frameshift variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2, MUS81
Deletion
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GBenign
EFEMP2, MUS81
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2, MUS81
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
EFEMP2, MUS81
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
EFEMP2, MUS81
Insertion
(non-coding transcript variant +1 more)
not provided
GBenign
EFEMP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
EFEMP2
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2
Single nucleotide variant
(splice donor variant)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
(I389L)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
+1 more
GUncertain significance
EFEMP2
(Y388H)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
+1 more
GLikely benign
EFEMP2
(D386N)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2
(D386H)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2
(G385R)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
EFEMP2
(A375P)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2
(G371fs)
Duplication
(frameshift variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GLikely pathogenic
EFEMP2
(G371S)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+2 more
GLikely benign
EFEMP2
(Y369H)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GLikely benign
EFEMP2
(S367P)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GLikely benign
EFEMP2
(A365V)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
+1 more
GLikely benign
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
EFEMP2
(V360M)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
(D359fs)
Duplication
(frameshift variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GPathogenic
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