"Blueprint Genetics"[submitter] AND "CREBBP"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1224316	NM_004380.3(CREBBP):c.1733dup (p.Thr579fs)	CREBBP, LOC130058353 (T541fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1224416	NM_004380.3(CREBBP):c.1625_1649del (p.Pro542fs)	CREBBP (P504fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1224415	NM_004380.3(CREBBP):c.785G>A (p.Gly262Glu)	CREBBP (G262E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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