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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129932021, LOC129932022
+478 more
Copy number loss
See cases
GPathogenic
LOC129932539, LOC129932540
+1148 more
Copy number gain
See cases
GPathogenic
ASPM, ATP6V1G3
+173 more
Copy number loss
See cases
GPathogenic
KCNT2, LINC01724
+16 more
Copy number loss
See cases
GUncertain significance
ASPM, CFH
+36 more
Copy number loss
See cases
GPathogenic
CFH, CFHR3
+5 more
Copy number loss
See cases
GUncertain significance
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