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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130060786, LOC130060787
+633 more
Copy number gain
See cases
GPathogenic
ADAM11, ASB16
+104 more
Copy number loss
See cases
GPathogenic
HDAC5
(D593E +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
HDAC5
Deletion
(intron variant)
not provided
GBenign
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