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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACP5, ANGPTL6
+536 more
Copy number gain
See cases
GLikely pathogenic
LOC130063608, LOC130063609
+484 more
Copy number gain
See cases
GPathogenic
LOC130063636, LOC130063637
+434 more
Copy number loss
See cases
GPathogenic
LOC130064390, LOC130064391
+2135 more
Copy number gain
See cases
GPathogenic
ACP5, BEST2
+261 more
Copy number loss
See cases
GPathogenic
BEST2, BRME1
+355 more
Copy number loss
See cases
GPathogenic
LOC130063796, LOC130063797
+351 more
Copy number gain
See cases
GPathogenic
ADGRE2, ADGRE3
+318 more
Copy number loss
See cases
GPathogenic
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