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Links from MedGen

Items: 1 to 100 of 338

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
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
(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
(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
(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)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
(P98fs)
Duplication
(frameshift variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GPathogenic
EFEMP2
(D386N)
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
Single nucleotide variant
(intron variant)
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)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
Single nucleotide variant
(splice acceptor variant)
Cutis laxa, autosomal recessive, type 1B
GLikely pathogenic
EFEMP2, MUS81
Deletion
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GBenign
EFEMP2
Single nucleotide variant
(intron variant)
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
(intron variant)
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
(Y307fs)
Duplication
(frameshift variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GPathogenic
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
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
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2, MUS81
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
GLikely benign
EFEMP2
Single nucleotide variant
(intron variant)
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
Deletion
(nonsense +1 more)
Cutis laxa, autosomal recessive, type 1B
GPathogenic
EFEMP2
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
Indel
(splice acceptor variant)
Cutis laxa, autosomal recessive, type 1B
GLikely pathogenic
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2
(R83C)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GLikely pathogenic
EFEMP2, MUS81
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
+1 more
GLikely benign
EFEMP2
Single nucleotide variant
(intron 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
(P106T)
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
+1 more
GLikely benign
EFEMP2, MUS81
(P404T)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
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
GLikely benign
EFEMP2
(P152H)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
EFEMP2
Single nucleotide variant
(intron variant)
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
(E214K)
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
(T223S)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
(E161Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
EFEMP2
(N179D)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2
(C287fs)
Duplication
(frameshift variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GPathogenic
EFEMP2
Duplication
(inframe_insertion +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
Indel
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
(D34N)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2
(P3S)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
MUS81, EFEMP2
(A402T)
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
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
Deletion
(splice acceptor variant)
Cutis laxa, autosomal recessive, type 1B
GLikely pathogenic
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
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
(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
(M209I)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2, MUS81
(E410Q)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2
(T223I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
EFEMP2
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
(H141Y)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2
(R354W)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
GUncertain significance
EFEMP2
(D245del)
Microsatellite
(inframe_deletion +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
MUS81, EFEMP2
(T442N)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
+1 more
GUncertain significance
EFEMP2
(R308H)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
EFEMP2
(R185C)
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
(I389L)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
+1 more
GLikely benign
EFEMP2
(A375P)
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
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, MUS81
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cutis laxa, autosomal recessive, type 1B
+1 more
GLikely benign
EFEMP2
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GBenign
EFEMP2
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
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