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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFAP20, LOC101927556
+520 more
Duplication
not provided
GPathogenic
LOC130059125, LOC130059126
+675 more
Copy number gain
See cases
GPathogenic
AKTIP, CAPNS2
+104 more
Copy number loss
See cases
GPathogenic
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
IRX5, IRX6
+189 more
Deletion
not provided
GPathogenic
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