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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129456123, LOC130065248
+833 more
Copy number gain
See cases
GPathogenic
ABHD12, ACSS1
+828 more
Copy number gain
See cases
GPathogenic
ADAM33, ADISSP
+731 more
Copy number gain
Renal agenesis
GPathogenic
ADAM33, ADISSP
+579 more
Copy number gain
See cases
GPathogenic
FASTKD5, FERMT1
+814 more
Copy number gain
See cases
GPathogenic
LOC130065324, LOC130065325
+581 more
Copy number gain
See cases
GPathogenic
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
LOC613266, MACROD2
+950 more
Copy number gain
See cases
GPathogenic
CFAP61, CFAP61-AS1
+117 more
Copy number loss
See cases
GPathogenic
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