"Illumina Laboratory Services, Illumina"[submitter] AND "EP300"[gene] - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 341776	NM_001429.4(EP300):c.444G>A (p.Thr148=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +2 more	GLikely benign
Select item 93745	NM_001429.4(EP300):c.730-18_730-9del	EP300	Deletion (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +3 more	GBenign
Select item 973309	NM_001429.4(EP300):c.1508T>C (p.Met503Thr)	EP300 (M503T)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 341786	NM_001429.4(EP300):c.1516A>G (p.Met506Val)	EP300 (M506V)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 3062160	NM_001429.4(EP300):c.1528+3_1528+10del	EP300	Deletion (splice donor variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 341793	NM_001429.4(EP300):c.2242-6_2242-4del	EP300	Deletion (intron variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 1190573	NM_001429.4(EP300):c.2876G>T (p.Ser959Ile)	EP300, LOC126863158 (S933I +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GConflicting classifications of pathogenicity
Select item 194725	NM_001429.4(EP300):c.3143-4del	EP300	Deletion (intron variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +2 more	GConflicting classifications of pathogenicity
Select item 3062060	NM_001429.4(EP300):c.5688_5689del (p.Ser1897fs)	EP300 (S1871fs +1 more)	Microsatellite (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 341826	NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)	EP300 (Q2268del +1 more)	Deletion (inframe_deletion)	not specified +4 more	GBenign/Likely benign
Select item 341827	NM_001429.4(EP300):c.6912C>T (p.Ser2304=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +3 more	GBenign/Likely benign
Select item 341833	NM_001429.4(EP300):c.40_44del	EP300	Deletion (3 prime UTR variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 341838	NM_001429.4(EP300):c.*340dup	EP300	Duplication (3 prime UTR variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely benign
Select item 341844	NM_001429.4(EP300):c.591_592dup	EP300	Duplication (3 prime UTR variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 341843	NM_001429.4(EP300):c.*592dup	EP300	Duplication (3 prime UTR variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 341845	NM_001429.4(EP300):c.*592del	EP300	Deletion (3 prime UTR variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 341846	NM_001429.4(EP300):c.*745del	EP300	Deletion (3 prime UTR variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 341848	NM_001429.4(EP300):c.785_786del	EP300	Deletion (3 prime UTR variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 341851	NM_001429.4(EP300):c.*921dup	EP300	Duplication (3 prime UTR variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 341858	NM_001429.4(EP300):c.922_942delinsCC	EP300	Indel (3 prime UTR variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 341857	NM_001429.4(EP300):c.922_942delinsC	EP300	Indel (3 prime UTR variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 341856	NM_001429.4(EP300):c.922_938delinsC	EP300	Indel (3 prime UTR variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 341855	NM_001429.4(EP300):c.922_932delinsCCC	EP300	Indel (3 prime UTR variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 341854	NM_001429.4(EP300):c.922_932delinsC	EP300	Indel (3 prime UTR variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 341853	NM_001429.4(EP300):c.922_930delinsCCC	EP300	Indel (3 prime UTR variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 341852	NM_001429.4(EP300):c.922_930delinsC	EP300	Indel (3 prime UTR variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 341863	NM_001429.4(EP300):c.*926AC[23]	EP300	Microsatellite (3 prime UTR variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 341862	NM_001429.4(EP300):c.*926AC[22]	EP300	Microsatellite (3 prime UTR variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 341865	NM_001429.4(EP300):c.*926AC[18]	EP300	Microsatellite (3 prime UTR variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 341864	NM_001429.4(EP300):c.*926AC[20]	EP300	Microsatellite (3 prime UTR variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GUncertain significance
Select item 341873	NM_001429.4(EP300):c.1083_1085del	EP300	Deletion (3 prime UTR variant)	Rubinstein-Taybi syndrome due to CREBBP mutations	GLikely benign
Select item 1803809	GRCh37/hg19 22q13.2(chr22:41408541-41580159)x3	EP300	Copy number gain	not provided	GUncertain significance

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Items: 32