"Illumina Laboratory Services, Illumina"[submitter] AND "CREBBP"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 989262	NM_004380.3(CREBBP):c.6454C>T (p.Pro2152Ser)	CREBBP (P2114S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 1199203	NM_004380.3(CREBBP):c.6388C>T (p.Gln2130Ter)	CREBBP (Q2092* +1 more)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 989263	NM_004380.3(CREBBP):c.2417T>C (p.Met806Thr)	CREBBP (M768T +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 973292	NM_004380.3(CREBBP):c.1823T>C (p.Leu608Pro)	CREBBP (L570P +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely pathogenic
Select item 973293	NM_004380.3(CREBBP):c.1213C>G (p.Gln405Glu)	CREBBP (Q405E)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 694759	NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter)	CREBBP (R370*)	Single nucleotide variant (nonsense)	Corpus callosum, agenesis of +1 more	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic

ClinVar