"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068070	NM_004380.3(CREBBP):c.7028T>G (p.Val2343Gly)	CREBBP (V2305G +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 3065156	NM_004380.3(CREBBP):c.5352G>T (p.Gln1784His)	CREBBP (Q1746H +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 3065423	NM_004380.3(CREBBP):c.5238G>T (p.Gly1746=)	CREBBP	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 158384	NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)	CREBBP (S1680del +1 more)	Microsatellite (inframe_deletion)	Rubinstein-Taybi syndrome due to CREBBP mutations +3 more	GConflicting classifications of pathogenicity
Select item 3065360	NM_004380.3(CREBBP):c.4471C>A (p.Gln1491Lys)	CREBBP (Q1453K +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 2687858	NM_004380.3(CREBBP):c.2464-2A>G	CREBBP	Single nucleotide variant (splice acceptor variant)	not specified	GLikely pathogenic
Select item 3065282	NM_004380.3(CREBBP):c.2170T>C (p.Phe724Leu)	CREBBP (F686L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely benign