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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126862060, LOC126862061
+3282 more
Copy number gain
See cases
GPathogenic
LOC125048449, LOC125048450
+3277 more
Copy number gain
See cases
GPathogenic
ABHD12B, ARF6
+394 more
Copy number gain
See cases
GLikely pathogenic
ABHD12B, ATG14
+217 more
Copy number loss
See cases
GPathogenic
LOC130055670, LOC130055671
+89 more
Copy number loss
Dystonia 5
GPathogenic
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