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Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
ABHD16B, ACOT8
+1024 more
Copy number gain
See cases
GPathogenic
ABHD16B, ADNP
+635 more
Copy number gain
20q13.13qter duplication
GPathogenic
LOC130066385, LOC130066386
+553 more
Copy number gain
See cases
GLikely pathogenic
LOC130066289, LOC130066290
+491 more
Copy number gain
See cases
GPathogenic
LOC130066383, LOC130066384
+464 more
Copy number gain
See cases
GPathogenic
LOC130066362, LOC130066363
+355 more
Copy number gain
See cases
GPathogenic
CDH4, LOC100128310
+6 more
Copy number loss
See cases
GUncertain significance
CDH4, LOC100128310
+9 more
Copy number gain
See cases
GUncertain significance
ABHD16B, ADRM1
+312 more
Copy number gain
See cases
GPathogenic
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