"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 209145	NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)	CREBBP (M1872V +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +4 more	GConflicting classifications of pathogenicity
Select item 981358	NM_004380.3(CREBBP):c.5561A>C (p.Gln1854Pro)	CREBBP (Q1816P +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 981321	NM_004380.3(CREBBP):c.5186G>A (p.Cys1729Tyr)	CREBBP (C1691Y +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 9433	NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)	CREBBP (E1278K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 158359	NM_004380.3(CREBBP):c.3779+1G>A	CREBBP	Single nucleotide variant (splice donor variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +3 more	GPathogenic
Select item 1701038	NM_004380.3(CREBBP):c.223C>T (p.Arg75Ter)	CREBBP (R75*)	Single nucleotide variant (nonsense)	CREBBP-related disorder +1 more	GPathogenic

ClinVar