"3billion"[submitter] AND "CREBBP"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 984922	NM_004380.3(CREBBP):c.6250C>T (p.Gln2084Ter)	CREBBP (Q2046* +1 more)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 280284	NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter)	CREBBP (Q2081* +1 more)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to CREBBP mutations +1 more	GPathogenic/Likely pathogenic
Select item 265346	NM_004380.3(CREBBP):c.5602C>T (p.Arg1868Trp)	CREBBP (R1868W +1 more)	Single nucleotide variant (missense variant)	See cases +3 more	GPathogenic
Select item 521159	NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del)	CREBBP (F1633del +1 more)	Microsatellite (inframe_deletion)	Menke-Hennekam syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 279963	NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly)	CREBBP (D1480G +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +1 more	GPathogenic/Likely pathogenic
Select item 1333260	NM_004380.3(CREBBP):c.4013T>G (p.Leu1338Trp)	CREBBP (L1300W +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 1687250	NM_004380.3(CREBBP):c.3983-1G>C	CREBBP	Single nucleotide variant (splice acceptor variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 1687581	NM_004380.3(CREBBP):c.3907C>T (p.Pro1303Ser)	CREBBP (P1265S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 1333441	NM_004380.3(CREBBP):c.3418del (p.Arg1140fs)	CREBBP (R1102fs +1 more)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 1333271	NM_004380.3(CREBBP):c.3370-2A>G	CREBBP	Single nucleotide variant (splice acceptor variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 1098286	NM_004380.3(CREBBP):c.3369+1del	CREBBP	Deletion (splice donor variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GPathogenic
Select item 2572396	NM_004380.3(CREBBP):c.2113+1G>C	CREBBP	Single nucleotide variant (splice donor variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 158338	NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter)	CREBBP (R424*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic