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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132090301, LOC132090302
+178 more
Copy number loss
See cases
GPathogenic
ACTC1, AQR
+219 more
Copy number loss
See cases
GPathogenic
ACTC1, AQR
+99 more
Copy number loss
See cases
GPathogenic
CDIN1, DPH6
+92 more
Copy number loss
See cases
GPathogenic
FAM98B, LINC02694
+24 more
Deletion
Legius syndrome
GPathogenic
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