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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129993082, LOC129993083
+661 more
Copy number gain
See cases
GPathogenic
LOC129993132, LOC129993133
+420 more
Copy number loss
See cases
GPathogenic
ABHD18, ADAD1
+254 more
Copy number loss
See cases
GPathogenic
AADAT, ABCE1
+1310 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+1245 more
Copy number gain
See cases
GPathogenic
ABHD18, C4orf33
+113 more
Copy number loss
See cases
GPathogenic
QKILA, RAB33B
+1102 more
Copy number gain
See cases
GPathogenic
LINC02479, LINC02485
+185 more
Copy number loss
See cases
GPathogenic
C4orf33, JADE1
+24 more
Copy number loss
See cases
GUncertain significance
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