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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DENND5A, DNHD1
+723 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+204 more
Copy number gain
See cases
GPathogenic
A-GAMMA3'E, ANO9
+388 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+271 more
Copy number gain
See cases
GPathogenic
LOC130005164, LOC130005165
+332 more
Copy number gain
See cases
GPathogenic
ANO9, AP2A2
+266 more
Copy number gain
See cases
GPathogenic
TRIM22, TRIM3
+917 more
Copy number gain
See cases
GPathogenic
ASCL2, BGLT3
+328 more
Deletion
Thalassemia, gamma-delta-beta
GPathogenic
AP2A2, BRSK2
+115 more
Copy number loss
See cases
GPathogenic
ASCL2, BRSK2
+129 more
Copy number loss
See cases
GPathogenic
C11orf21, CARS1
+115 more
Copy number gain
See cases
GPathogenic
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