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Items: 5

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
ADNP, ADNP-AS1
+124 more
Copy number loss
See cases
GPathogenic
ADNP, ADNP-AS1
+199 more
Copy number gain
See cases
GPathogenic
ADNP, ADNP-AS1
+102 more
Copy number loss
See cases
GLikely pathogenic
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