"Revvity Omics, Revvity"[submitter] AND "CREBBP"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440542	NM_004380.3(CREBBP):c.*929A>G	CREBBP	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 2440548	NM_004380.3(CREBBP):c.7098_7102dup (p.Gln2368fs)	CREBBP (Q2330fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2440555	NM_004380.3(CREBBP):c.6949C>G (p.Gln2317Glu)	CREBBP (Q2279E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440546	NM_004380.3(CREBBP):c.6789G>C (p.Gln2263His)	CREBBP (Q2225H +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +1 more	GUncertain significance
Select item 975522	NM_004380.3(CREBBP):c.6624_6635del (p.Gln2213_Gln2216del)	CREBBP	Deletion (inframe_deletion)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 650857	NM_004380.3(CREBBP):c.6384_6401del (p.Gln2128_Met2133del)	CREBBP	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 2688868	NM_004380.3(CREBBP):c.6365A>C (p.Gln2122Pro)	CREBBP (Q2084P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440549	NM_004380.3(CREBBP):c.5831C>T (p.Ala1944Val)	CREBBP (A1906V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 209145	NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)	CREBBP (M1872V +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +5 more	GPathogenic/Likely pathogenic
Select item 2440557	NM_004380.3(CREBBP):c.5245C>G (p.Leu1749Val)	CREBBP (L1711V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440541	NM_004380.3(CREBBP):c.5134C>G (p.His1712Asp)	CREBBP (H1674D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 694829	NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His)	CREBBP (R1626H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2440545	NM_004380.3(CREBBP):c.4960C>T (p.Pro1654Ser)	CREBBP (P1616S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1322161	NM_004380.3(CREBBP):c.4606_4607del (p.Glu1536fs)	CREBBP (E1498fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1324171	NM_004380.3(CREBBP):c.4269del (p.Pro1424fs)	CREBBP (P1386fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2440550	NM_004380.3(CREBBP):c.4232G>T (p.Gly1411Val)	CREBBP (G1373V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 947345	NM_004380.3(CREBBP):c.4216G>T (p.Asp1406Tyr)	CREBBP (D1368Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 734256	NM_004380.3(CREBBP):c.3841G>A (p.Val1281Ile)	CREBBP (V1243I +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2435820	NM_004380.3(CREBBP):c.3517C>T (p.Arg1173Ter)	CREBBP (R1135* +1 more)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to CREBBP mutations +1 more	GPathogenic
Select item 1474991	NM_004380.3(CREBBP):c.3385G>A (p.Val1129Ile)	CREBBP (V1091I +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +1 more	GUncertain significance
Select item 1729415	NM_004380.3(CREBBP):c.3250+4G>A	CREBBP	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome +2 more	GUncertain significance
Select item 1235590	NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys)	CREBBP (G1031C +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2440552	NM_004380.3(CREBBP):c.3052A>G (p.Arg1018Gly)	CREBBP (R1018G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1790210	NM_004380.3(CREBBP):c.2365G>A (p.Ala789Thr)	CREBBP (A789T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2440554	NM_004380.3(CREBBP):c.2290A>G (p.Ile764Val)	CREBBP (I726V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440556	NM_004380.3(CREBBP):c.1756A>G (p.Thr586Ala)	CREBBP (T548A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958841	NM_004380.3(CREBBP):c.1556G>A (p.Arg519Lys)	CREBBP (R481K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1774061	NM_004380.3(CREBBP):c.1504C>T (p.Pro502Ser)	CREBBP (P464S +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +2 more	GUncertain significance
Select item 2440553	NM_004380.3(CREBBP):c.793G>A (p.Ala265Thr)	CREBBP (A265T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2440543	NM_004380.3(CREBBP):c.787G>A (p.Gly263Ser)	CREBBP (G263S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440551	NM_004380.3(CREBBP):c.349G>T (p.Ala117Ser)	CREBBP (A117S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440547	NM_004380.3(CREBBP):c.67T>C (p.Ser23Pro)	CREBBP, LOC130058357 (S23P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 32