U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 11

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
Format
Items per page
Sort by
Choose Destination