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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EP300
(N1286S +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability
+4 more
GPathogenic/Likely pathogenic
EP300
(F1275V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability
GUncertain significance
EP300
(L1469* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability
GPathogenic
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