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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TEK
(R849W +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TEK
(Y897S +4 more)
Single nucleotide variant
(missense variant)
Blue rubber bleb nevus
GLikely pathogenic