"Centogene AG - the Rare Disease Company"[submitter] AND "EP300"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 974833	NM_001429.4(EP300):c.3067del (p.Glu1022_Ile1023insTer)	EP300, LOC126863158	Deletion (nonsense)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely pathogenic
Select item 1722320	NM_001429.4(EP300):c.3733del (p.Val1245fs)	EP300 (V1219fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely pathogenic
Select item 378053	NM_001429.3(EP300):c.3857A>G	EP300 (N1286S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +4 more	GPathogenic/Likely pathogenic
Select item 372363	NM_001429.4(EP300):c.4783T>G (p.Phe1595Val)	EP300 (F1595V +1 more)	Single nucleotide variant (missense variant)	EP300-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 1333868	NM_001429.4(EP300):c.6101del (p.Gly2034fs)	EP300 (G2008fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 1333869	NM_001429.4(EP300):c.7220C>T (p.Ser2407Leu)	EP300 (S2381L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance

ClinVar