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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993082, LOC129993083
+661 more
Copy number gain
See cases
GPathogenic
ALPK1, ANK2
+55 more
Deletion
Axenfeld-Rieger syndrome type 1
GLikely pathogenic
LOC110120703, LOC129992967
+1 more
Copy number loss
See cases
GUncertain significance
LOC129992968, LOC129992986
+77 more
Deletion
Congenital aniridia
GPathogenic
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