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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ELP4, PAX6DRR
(Y341* +1 more)
Single nucleotide variant
(nonsense)
Aniridia 2
GUncertain significance
ELP4, PAX6
Copy number loss
11p partial monosomy syndrome
GPathogenic