C3150941[trait identifier] AND "Genetics Laboratory, UDIAT-Centre Diag - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708232	NM_001429.4(EP300):c.108_111del (p.Phe37fs)	EP300 (F37fs)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 1708228	NM_001429.4(EP300):c.6323del (p.Gln2108fs)	EP300 (Q2082fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic