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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTBL2, ADAMTS12
+1445 more
Copy number gain
See cases
GPathogenic
LINC02057, LINC02101
+518 more
Copy number gain
See cases
GPathogenic
ACTBL2, ANKRD55
+269 more
Copy number loss
See cases
GPathogenic
ACTBL2, DEPDC1B
+105 more
Copy number gain
See cases
GPathogenic
LOC129993982, LOC129993983
+265 more
Copy number loss
Intellectual disability
GLikely pathogenic
LOC123493320, LOC126807405
+3 more
Copy number loss
See cases
GBenign
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