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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EFEMP2, MUS81
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
EFEMP2
(S355R)
Single nucleotide variant
(missense variant +1 more)
Cutis laxa, autosomal recessive, type 1B
+2 more
GUncertain significance
EFEMP2
Single nucleotide variant
(intron variant)
Cutis laxa, autosomal recessive, type 1B
GLikely benign
EFEMP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
EFEMP2
(G93S)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GBenign/Likely benign
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