EP300[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC112695092, LOC112695093 +1004 more	Copy number gain	See cases	GPathogenic
Select item 145111	GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	LOC130067848, LOC130067849 +687 more	Copy number gain	See cases	GPathogenic
Select item 145112	GRCh38/hg38 22q13.2(chr22:40769910-41360090)x3	CHADL, DNAJB7 +32 more	Copy number gain	See cases	GUncertain significance
Select item 57233	GRCh38/hg38 22q13.2(chr22:40860894-41306006)x3	CHADL, DNAJB7 +28 more	Copy number gain	See cases	GUncertain significance
Select item 471411	NC_000022.10:g.(?_41264983)_(41729217_?)dup	LOC130067524, LOC130067525 +27 more	Duplication	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 1219376	NC_000022.11:g.41092485G>A	EP300, LOC130067528	Single nucleotide variant	not provided	GLikely benign
Select item 1257962	NR_031694.1(MIR1281):n.10C>T	EP300, LOC130067528 +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 6884	NC_000022.11:g.(?_41092585)_(41093099_41117186)del	EP300, LOC130067528 +2 more	Deletion	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 3055114	NM_001429.4(EP300):c.-9G>T	EP300	Single nucleotide variant (5 prime UTR variant)	EP300-related condition	GLikely benign
Select item 931680	NM_001429.4(EP300):c.7G>A (p.Glu3Lys)	EP300 (E3K)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2	GUncertain significance
Select item 2737881	NM_001429.4(EP300):c.9G>T (p.Glu3Asp)	EP300 (E3D)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2441230	NM_001429.4(EP300):c.12T>A (p.Asn4Lys)	EP300 (N4K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 719791	NM_001429.4(EP300):c.12T>C (p.Asn4=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related condition +1 more	GLikely benign
Select item 1492820	NM_001429.4(EP300):c.28C>T (p.Pro10Ser)	EP300 (P10S)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3038262	NM_001429.4(EP300):c.29C>G (p.Pro10Arg)	EP300 (P10R)	Single nucleotide variant (missense variant)	EP300-related condition	GLikely benign
Select item 2195143	NM_001429.4(EP300):c.31C>T (p.Pro11Ser)	EP300 (P11S)	Single nucleotide variant (missense variant)	EP300-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2071403	NM_001429.4(EP300):c.33T>A (p.Pro11=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 2480625	NM_001429.4(EP300):c.42G>T (p.Lys14Asn)	EP300, LOC130067530 (K14N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1254642	NM_001429.4(EP300):c.45G>A (p.Arg15=)	EP300, LOC130067530	Single nucleotide variant (synonymous variant)	EP300-related condition +2 more	GBenign/Likely benign
Select item 2010716	NM_001429.4(EP300):c.47C>G (p.Pro16Arg)	EP300, LOC130067530 (P16R)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2916066	NM_001429.4(EP300):c.63G>C (p.Pro21=)	EP300, LOC130067530	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 264649	NM_001429.4(EP300):c.70_71del (p.Ser24fs)	EP300, LOC130067530 (S24fs)	Microsatellite (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 765155	NM_001429.4(EP300):c.69C>A (p.Leu23=)	EP300, LOC130067530	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2099046	NM_001429.4(EP300):c.75G>A (p.Ala25=)	EP300, LOC130067530	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2629224	NM_001429.4(EP300):c.88G>A (p.Gly30Ser)	EP300, LOC130067530 (G30S)	Single nucleotide variant (missense variant)	EP300-related condition +1 more	GUncertain significance
Select item 3033504	NM_001429.4(EP300):c.94+9C>T	EP300, LOC130067530	Single nucleotide variant (intron variant)	EP300-related condition	GLikely benign
Select item 3015716	NM_001429.4(EP300):c.94+10G>A	EP300, LOC130067530	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2059665	NM_001429.4(EP300):c.94+12C>T	EP300, LOC130067530	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 341772	NM_001429.4(EP300):c.94+13A>G	EP300, LOC130067530	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2731615	NM_001429.4(EP300):c.94+18_94+19insTC	EP300, LOC130067530	Insertion (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 1977849	NM_001429.4(EP300):c.94+17C>T	EP300, LOC130067530	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 1950714	NM_001429.4(EP300):c.94+19G>A	EP300, LOC130067530	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 1289013	NM_001429.4(EP300):c.94+41C>T	EP300, LOC130067530	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175648	NM_001429.4(EP300):c.94+108C>A	EP300, LOC130067530	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289180	NM_001429.4(EP300):c.94+260G>C	EP300	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201438	NM_001429.4(EP300):c.95-202G>A	EP300	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1284098	NM_001429.4(EP300):c.95-97G>T	EP300	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 258098	NM_001429.4(EP300):c.95-16T>C	EP300	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2824565	NM_001429.4(EP300):c.95-9T>C	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2084149	NM_001429.4(EP300):c.95-3T>C	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 137620	NM_001429.4(EP300):c.104_107del (p.Ser35fs)	EP300 (S35fs)	Microsatellite (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +5 more	GPathogenic/Likely pathogenic
Select item 499750	NM_001429.4(EP300):c.103T>G (p.Ser35Ala)	EP300 (S35A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388633	NM_001429.4(EP300):c.104C>G (p.Ser35Cys)	EP300 (S35C)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 1708232	NM_001429.4(EP300):c.108_111del (p.Phe37fs)	EP300 (F37fs)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 783106	NM_001429.4(EP300):c.108A>G (p.Leu36=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2662028	NM_001429.4(EP300):c.124G>A (p.Asp42Asn)	EP300 (D42N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328714	NM_001429.4(EP300):c.137A>T (p.Glu46Val)	EP300 (E46V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791501	NM_001429.4(EP300):c.151A>G (p.Thr51Ala)	EP300 (T51A)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 1710411	NM_001429.4(EP300):c.152C>T (p.Thr51Ile)	EP300 (T51I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1977491	NM_001429.4(EP300):c.156A>G (p.Glu52=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 341774	NM_001429.4(EP300):c.157T>C (p.Leu53=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related condition +1 more	GLikely benign
Select item 1430922	NM_001429.4(EP300):c.169A>G (p.Asn57Asp)	EP300 (N57D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1925934	NM_001429.4(EP300):c.170A>G (p.Asn57Ser)	EP300 (N57S)	Single nucleotide variant (missense variant)	EP300-related condition +1 more	GUncertain significance
Select item 1309372	NM_001429.4(EP300):c.175G>C (p.Gly59Arg)	EP300 (G59R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008052	NM_001429.4(EP300):c.189G>C (p.Gln63His)	EP300 (Q63H)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2653194	NM_001429.4(EP300):c.191T>C (p.Leu64Pro)	EP300 (L64P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441237	NM_001429.4(EP300):c.194A>G (p.Gln65Arg)	EP300 (Q65R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1399213	NM_001429.4(EP300):c.206G>A (p.Gly69Asp)	EP300 (G69D)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 2741341	NM_001429.4(EP300):c.208A>G (p.Met70Val)	EP300 (M70V)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 1298318	NM_001429.4(EP300):c.214C>A (p.Gln72Lys)	EP300 (Q72K)	Single nucleotide variant (missense variant)	EP300-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1961256	NM_001429.4(EP300):c.231A>G (p.Lys77=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GBenign/Likely benign
Select item 2632647	NM_001429.4(EP300):c.238C>G (p.Gln80Glu)	EP300 (Q80E)	Single nucleotide variant (missense variant)	EP300-related condition	GUncertain significance
Select item 817520	NM_001429.4(EP300):c.256C>T (p.Arg86Ter)	EP300 (R86*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2418711	NM_001429.4(EP300):c.257G>A (p.Arg86Gln)	EP300 (R86Q)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 916060	NM_001429.4(EP300):c.272dup (p.Pro91_Asn92insTer)	EP300	Duplication (frameshift variant)	not provided	GPathogenic
Select item 520753	NM_001429.4(EP300):c.272del (p.Pro91fs)	EP300 (P91fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 752648	NM_001429.4(EP300):c.270C>T (p.Ser90=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 1388681	NM_001429.4(EP300):c.271C>T (p.Pro91Ser)	EP300 (P91S)	Single nucleotide variant (missense variant)	EP300-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2305498	NM_001429.4(EP300):c.272C>G (p.Pro91Arg)	EP300 (P91R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285649	NM_001429.4(EP300):c.284T>C (p.Met95Thr)	EP300 (M95T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2837545	NM_001429.4(EP300):c.287G>A (p.Gly96Glu)	EP300 (G96E)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 1310909	NM_001429.4(EP300):c.301G>A (p.Gly101Ser)	EP300 (G101S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1011676	NM_001429.4(EP300):c.302G>A (p.Gly101Asp)	EP300 (G101D)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 578464	NM_001429.4(EP300):c.307G>A (p.Val103Ile)	EP300 (V103I)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GUncertain significance
Select item 2634758	NM_001429.4(EP300):c.311T>C (p.Met104Thr)	EP300 (M104T)	Single nucleotide variant (missense variant)	EP300-related condition	GUncertain significance
Select item 134041	NM_001429.4(EP300):c.316A>G (p.Ser106Gly)	EP300 (S106G)	Single nucleotide variant (missense variant)	EP300-related condition +2 more	GBenign/Likely benign
Select item 424555	NM_001429.4(EP300):c.319C>T (p.Gln107Ter)	EP300 (Q107*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2011925	NM_001429.4(EP300):c.320A>G (p.Gln107Arg)	EP300 (Q107R)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 341775	NM_001429.4(EP300):c.324C>T (p.Ala108=)	EP300	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1065511	NM_001429.4(EP300):c.332G>A (p.Ser111Asn)	EP300 (S111N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2103313	NM_001429.4(EP300):c.338C>T (p.Pro113Leu)	EP300 (P113L)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2848924	NM_001429.4(EP300):c.342A>G (p.Gly114=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2869251	NM_001429.4(EP300):c.346G>A (p.Gly116Ser)	EP300 (G116S)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 570077	NM_001429.4(EP300):c.359G>A (p.Ser120Asn)	EP300 (S120N)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2636583	NM_001429.4(EP300):c.362T>C (p.Met121Thr)	EP300 (M121T)	Single nucleotide variant (missense variant)	EP300-related condition	GUncertain significance
Select item 634578	NM_001429.4(EP300):c.363G>C (p.Met121Ile)	EP300 (M121I)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2305499	NM_001429.4(EP300):c.365T>A (p.Val122Asp)	EP300 (V122D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 134042	NM_001429.4(EP300):c.376A>G (p.Met126Val)	EP300 (M126V)	Single nucleotide variant (missense variant)	EP300-related condition +2 more	GBenign/Likely benign
Select item 2637083	NM_001429.4(EP300):c.383A>T (p.Gln128Leu)	EP300 (Q128L)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GConflicting classifications of pathogenicity
Select item 3035831	NM_001429.4(EP300):c.394A>T (p.Thr132Ser)	EP300 (T132S)	Single nucleotide variant (missense variant)	EP300-related condition	GUncertain significance
Select item 1306300	NM_001429.4(EP300):c.433C>G (p.Gln145Glu)	EP300 (Q145E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794850	NM_001429.4(EP300):c.437G>A (p.Gly146Asp)	EP300 (G146D)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2073328	NM_001429.4(EP300):c.442A>G (p.Thr148Ala)	EP300 (T148A)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2220933	NM_001429.4(EP300):c.443C>T (p.Thr148Met)	EP300 (T148M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3048265	NM_001429.4(EP300):c.444G>C (p.Thr148=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related condition	GLikely benign
Select item 341776	NM_001429.4(EP300):c.444G>A (p.Thr148=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GLikely benign
Select item 1591621	NM_001429.4(EP300):c.448T>C (p.Ser150Pro)	EP300 (S150P)	Single nucleotide variant (missense variant)	EP300-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1195127	NM_001429.4(EP300):c.451A>G (p.Thr151Ala)	EP300 (T151A)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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