ClinVar for PMC (Select 4707034) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1397911	NM_004380.3(CREBBP):c.2881-13G>A	CREBBP	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 527959	NM_004380.3(CREBBP):c.1941+1G>A	CREBBP	Single nucleotide variant (splice donor variant)	Rubinstein-Taybi syndrome	GPathogenic