C4551859[trait identifier] AND "Center of Genomic medicine, Geneva, Un - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375635	NG_009873.1:g.(?_5000)_(160068_?)del	LOC130058355, LOC130058356 +7 more	Deletion	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 585288	NM_004380.3(CREBBP):c.5641_5642del (p.Leu1882fs)	CREBBP (L1844fs +1 more)	Microsatellite (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +1 more	GPathogenic