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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OTX2
(T253fs +1 more)
Deletion
(frameshift variant +1 more)
Syndromic microphthalmia type 5
GPathogenic
OTX2
(G242fs +1 more)
Deletion
(frameshift variant +1 more)
Syndromic microphthalmia type 5
GPathogenic