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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EFEMP2
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
EFEMP2
(G154S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
EFEMP2
(V87I)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GUncertain significance
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