C3150941[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709482	NM_001429.4(EP300):c.3746A>G (p.Glu1249Gly)	EP300 (E1223G +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 1709596	NM_001429.4(EP300):c.5519T>G (p.Val1840Gly)	EP300 (V1814G +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance