"ITMI"[submitter] AND "EP300"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 134041	NM_001429.4(EP300):c.316A>G (p.Ser106Gly)	EP300 (S106G)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GBenign/Likely benign
Select item 134042	NM_001429.4(EP300):c.376A>G (p.Met126Val)	EP300 (M126V)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GBenign/Likely benign
Select item 134043	NM_001429.4(EP300):c.631G>A (p.Gly211Ser)	EP300 (G211S)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2 +5 more	GBenign
Select item 134045	NM_001429.4(EP300):c.752A>G (p.Asn251Ser)	EP300 (N251S)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GBenign/Likely benign
Select item 134046	NM_001429.4(EP300):c.865A>G (p.Met289Val)	EP300 (M289V)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 134062	NM_001429.4(EP300):c.923C>T (p.Pro308Leu)	EP300 (P308L)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 134063	NM_001429.4(EP300):c.1150T>G (p.Ser384Ala)	EP300 (S384A)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 134064	NM_001429.4(EP300):c.1403A>T (p.Tyr468Phe)	EP300 (Y468F)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 134065	NM_001429.4(EP300):c.1519A>G (p.Ser507Gly)	EP300 (S507G)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2 +4 more	GBenign/Likely benign
Select item 134066	NM_001429.4(EP300):c.1654T>C (p.Ser552Pro)	EP300 (S552P)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 134035	NM_001429.4(EP300):c.2091T>G (p.Ser697Arg)	EP300 (S697R)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 134036	NM_001429.4(EP300):c.2173A>G (p.Ile725Val)	EP300 (I725V +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134040	NM_001429.4(EP300):c.2576T>C (p.Ile859Thr)	EP300 (I859T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 134038	NM_001429.4(EP300):c.2627A>T (p.Gln876Leu)	EP300 (Q876L +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134037	NM_001429.4(EP300):c.2774dup (p.Thr926fs)	EP300 (T900fs +1 more)	Duplication (frameshift variant)	not specified	Gnot provided
Select item 134039	NM_001429.4(EP300):c.2773C>A (p.Pro925Thr)	EP300 (P925T +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +5 more	GBenign/Likely benign
Select item 93736	NM_001429.4(EP300):c.2989A>G (p.Ile997Val)	EP300, LOC126863158 (I997V +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +3 more	GBenign
Select item 134044	NM_001429.4(EP300):c.3615C>G (p.Phe1205Leu)	EP300 (F1205L +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 183678	NM_001429.4(EP300):c.4933C>T (p.Arg1645Ter)	EP300 (R1645* +1 more)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GPathogenic
Select item 134056	NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr)	EP300 (S1716T +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GBenign/Likely benign
Select item 134050	NM_001429.4(EP300):c.5552C>T (p.Thr1851Ile)	EP300 (T1851I +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 134051	NM_001429.4(EP300):c.5669C>G (p.Thr1890Ser)	EP300 (T1890S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 134052	NM_001429.4(EP300):c.6289C>G (p.Pro2097Ala)	EP300 (P2097A +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GLikely benign
Select item 134057	NM_001429.4(EP300):c.6390G>A (p.Met2130Ile)	EP300 (M2130I +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GBenign/Likely benign
Select item 134053	NM_001429.4(EP300):c.6413C>T (p.Ala2138Val)	EP300 (A2138V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 134049	NM_001429.4(EP300):c.6481A>G (p.Met2161Val)	EP300 (M2161V +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 134058	NM_001429.4(EP300):c.6504G>A (p.Met2168Ile)	EP300 (M2168I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 134059	NM_001429.4(EP300):c.6586G>A (p.Gly2196Arg)	EP300 (G2196R +1 more)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 253313	NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys)	EP300	Deletion (inframe_indel)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +3 more	GBenign/Likely benign
Select item 93744	NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro)	EP300 (Q2223P +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GBenign
Select item 341826	NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)	EP300 (Q2268del +1 more)	Deletion (inframe_deletion)	not specified +3 more	GBenign/Likely benign
Select item 134054	NM_001429.4(EP300):c.6907C>G (p.Leu2303Val)	EP300 (L2303V +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 134060	NM_001429.4(EP300):c.6950G>A (p.Arg2317Gln)	EP300 (R2317Q +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 134061	NM_001429.4(EP300):c.7018G>A (p.Val2340Ile)	EP300 (V2340I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 134055	NM_001429.4(EP300):c.7139C>T (p.Pro2380Leu)	EP300 (P2380L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign

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Items: 35