"Center for Molecular Medicine, Children’s Hospital of Fudan Universit - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 545607	NM_004380.3(CREBBP):c.5905C>T (p.Gln1969Ter)	CREBBP (Q1969* +1 more)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 545605	NM_004380.3(CREBBP):c.4660A>T (p.Lys1554Ter)	CREBBP (K1554* +1 more)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 545604	NM_004380.2(CREBBP):c.[4112T>A;4118C>A]	CREBBP (P1373H +3 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 545600	NM_004380.3(CREBBP):c.1941+1G>T	CREBBP	Single nucleotide variant (splice donor variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 1299666	NM_004380.3(CREBBP):c.1676+2_1676+5del	CREBBP	Deletion (splice donor variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 545602	NM_004380.3(CREBBP):c.1280_1281del (p.Cys427fs)	CREBBP (C427fs)	Deletion (frameshift variant +1 more)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 545601	NM_004380.3(CREBBP):c.1062dup (p.Gln355fs)	CREBBP (Q355fs)	Duplication (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 619247	GRCh37/hg19 16p13.3(chr16:3794894-3795355)	CREBBP	Copy number loss	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic