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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130055392, LOC130055393
+780 more
Copy number gain
See cases
GPathogenic
ABHD4, ACIN1
+814 more
Copy number gain
See cases
GPathogenic
TRDC, TRDD1
+859 more
Copy number gain
See cases
GPathogenic
LOC126861920, LOC126861921
+3280 more
Copy number gain
See cases
GPathogenic
GSC, GSC-DT
+3275 more
Copy number gain
See cases
GPathogenic
LOC130055370, LOC130055371
+840 more
Copy number loss
See cases
GPathogenic
ADCY4, AKAP6
+399 more
Copy number loss
See cases
GPathogenic
FOXG1, LINC01551
+12 more
Copy number loss
Rett syndrome, congenital variant
GPathogenic
AKAP6, AP4S1
+73 more
Copy number loss
See cases
GPathogenic
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