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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EP300
(M693T)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
EP300
(R857G +1 more)
Single nucleotide variant
(missense variant)
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
+1 more
GUncertain significance