EP300[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3055114	NM_001429.4(EP300):c.-9G>T	EP300	Single nucleotide variant (5 prime UTR variant)	EP300-related disorder	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 disorder +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 disorder	GLikely benign
Select item 2195143	NM_001429.4(EP300):c.31C>T (p.Pro11Ser)	EP300 (P11S)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +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 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)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +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 disorder +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)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +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)	Inborn genetic diseases +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 disorder	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 disorder +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 disorder	GUncertain significance
Select item 134041	NM_001429.4(EP300):c.316A>G (p.Ser106Gly)	EP300 (S106G)	Single nucleotide variant (missense variant)	not provided +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 provided +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 disorder	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 3251937	NM_001429.4(EP300):c.369_370dup (p.Ser124fs)	EP300 (S124fs)	Duplication (frameshift variant)	Menke-Hennekam syndrome 2 +1 more	GLikely pathogenic
Select item 134042	NM_001429.4(EP300):c.376A>G (p.Met126Val)	EP300 (M126V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2637083	NM_001429.4(EP300):c.383A>T (p.Gln128Leu)	EP300 (Q128L)	Single nucleotide variant (missense variant)	EP300-related disorder +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 disorder	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)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +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 disorder	GLikely benign
Select item 341776	NM_001429.4(EP300):c.444G>A (p.Thr148=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder +2 more	GLikely benign
Select item 1591621	NM_001429.4(EP300):c.448T>C (p.Ser150Pro)	EP300 (S150P)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +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
Select item 1350847	NM_001429.4(EP300):c.454G>A (p.Gly152Ser)	EP300 (G152S)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +5 more	GConflicting classifications of pathogenicity
Select item 2052288	NM_001429.4(EP300):c.457A>G (p.Met153Val)	EP300 (M153V)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2174302	NM_001429.4(EP300):c.458T>C (p.Met153Thr)	EP300 (M153T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1210940	NM_001429.4(EP300):c.469C>A (p.Pro157Thr)	EP300 (P157T)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GBenign/Likely benign
Select item 597016	NM_001429.4(EP300):c.471A>G (p.Pro157=)	EP300	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2632645	NM_001429.4(EP300):c.478C>T (p.Gln160Ter)	EP300 (Q160*)	Single nucleotide variant (nonsense)	EP300-related disorder	GPathogenic
Select item 2219711	NM_001429.4(EP300):c.487A>G (p.Met163Val)	EP300 (M163V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 827620	NM_001429.4(EP300):c.494_497del (p.Met165fs)	EP300 (M165fs)	Deletion (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 2301336	NM_001429.4(EP300):c.494T>C (p.Met165Thr)	EP300 (M165T)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GUncertain significance
Select item 432523	NM_001429.4(EP300):c.495G>T (p.Met165Ile)	EP300 (M165I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1662689	NM_001429.4(EP300):c.498C>T (p.Asn166=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2737654	NM_001429.4(EP300):c.512C>T (p.Ala171Val)	EP300 (A171V)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 341778	NM_001429.4(EP300):c.513G>A (p.Ala171=)	EP300	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1895936	NM_001429.4(EP300):c.521A>G (p.Asn174Ser)	EP300 (N174S)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2907851	NM_001429.4(EP300):c.524C>T (p.Pro175Leu)	EP300 (P175L)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 2857943	NM_001429.4(EP300):c.529A>G (p.Met177Val)	EP300 (M177V)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2028291	NM_001429.4(EP300):c.532T>C (p.Leu178=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GBenign
Select item 425283	NM_001429.4(EP300):c.536C>G (p.Ala179Gly)	EP300 (A179G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1195015	NM_001429.4(EP300):c.545A>G (p.Asn182Ser)	EP300 (N182S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2016064	NM_001429.4(EP300):c.546T>C (p.Asn182=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 3089286	NM_001429.4(EP300):c.551A>G (p.Gln184Arg)	EP300 (Q184R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 597987	NM_001429.4(EP300):c.569A>G (p.Gln190Arg)	EP300 (Q190R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441236	NM_001429.4(EP300):c.574A>G (p.Met192Val)	EP300 (M192V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 289515	NM_001429.4(EP300):c.574A>T (p.Met192Leu)	EP300 (M192L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3089287	NM_001429.4(EP300):c.575T>C (p.Met192Thr)	EP300 (M192T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1282561	NM_001429.4(EP300):c.579C>T (p.Asn193=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related disorder +2 more	GBenign/Likely benign

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