"Invitae"[submitter] AND "EP300"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 471411	NC_000022.10:g.(?_41264983)_(41729217_?)dup	LOC130067524, LOC130067525 +27 more	Duplication	Nephronophthisis-like nephropathy 1	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1350847	NM_001429.4(EP300):c.454G>A (p.Gly152Ser)	EP300 (G152S)	Single nucleotide variant (missense variant)	EP300-related condition +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 2301336	NM_001429.4(EP300):c.494T>C (p.Met165Thr)	EP300 (M165T)	Single nucleotide variant (missense variant)	EP300-related condition +2 more	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)	EP300-related condition +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)	not provided +1 more	GBenign
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 1282561	NM_001429.4(EP300):c.579C>T (p.Asn193=)	EP300	Single nucleotide variant (synonymous variant)	EP300-related condition +2 more	GBenign/Likely benign
Select item 861851	NM_001429.4(EP300):c.584C>A (p.Ser195Ter)	EP300 (S195*)	Single nucleotide variant (nonsense)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 158567	NM_001429.4(EP300):c.586A>G (p.Ile196Val)	EP300 (I196V)	Single nucleotide variant (missense variant)	EP300-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2715573	NM_001429.4(EP300):c.613A>G (p.Met205Val)	EP300 (M205V)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 1922714	NM_001429.4(EP300):c.615G>T (p.Met205Ile)	EP300 (M205I)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 134043	NM_001429.4(EP300):c.631G>A (p.Gly211Ser)	EP300 (G211S)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to CREBBP mutations +6 more	GBenign
Select item 1072487	NM_001429.4(EP300):c.650dup (p.Asn217fs)	EP300 (N217fs)	Duplication (frameshift variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic
Select item 975546	NM_001429.4(EP300):c.650A>G (p.Asn217Ser)	EP300 (N217S)	Single nucleotide variant (missense variant)	EP300-related condition +2 more	GLikely benign
Select item 2716494	NM_001429.4(EP300):c.667C>G (p.Leu223Val)	EP300 (L223V)	Single nucleotide variant (missense variant)	EP300-related condition +1 more	GConflicting classifications of pathogenicity
Select item 341781	NM_001429.4(EP300):c.678C>G (p.Gly226=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GBenign/Likely benign
Select item 2872764	NM_001429.4(EP300):c.680C>T (p.Ser227Phe)	EP300 (S227F)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 1049476	NM_001429.4(EP300):c.695G>C (p.Gly232Ala)	EP300 (G232A)	Single nucleotide variant (missense variant)	Menke-Hennekam syndrome 2 +4 more	GConflicting classifications of pathogenicity
Select item 2161691	NM_001429.4(EP300):c.706T>A (p.Leu236Met)	EP300 (L236M)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 2062549	NM_001429.4(EP300):c.713G>A (p.Gly238Asp)	EP300 (G238D)	Single nucleotide variant (missense variant)	EP300-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2634564	NM_001429.4(EP300):c.721C>T (p.Pro241Ser)	EP300 (P241S)	Single nucleotide variant (missense variant)	EP300-related condition +1 more	GUncertain significance
Select item 2040529	NM_001429.4(EP300):c.726T>A (p.Leu242=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2965660	NM_001429.4(EP300):c.729+8C>T	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2904078	NM_001429.4(EP300):c.729+19T>C	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 1557223	NM_001429.4(EP300):c.729+20G>T	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2908051	NM_001429.4(EP300):c.730-20C>T	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 93745	NM_001429.4(EP300):c.730-18_730-9del	EP300	Deletion (intron variant)	not provided +3 more	GBenign
Select item 1598241	NM_001429.4(EP300):c.730-7_730-2del	EP300	Deletion (splice acceptor variant)	EP300-related condition +1 more	GLikely benign
Select item 3011970	NM_001429.4(EP300):c.730-10T>A	EP300	Single nucleotide variant (intron variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign
Select item 2152832	NM_001429.4(EP300):c.730-5C>T	EP300	Single nucleotide variant (intron variant)	EP300-related condition +1 more	GLikely benign
Select item 2036376	NM_001429.4(EP300):c.734G>A (p.Gly245Glu)	EP300 (G245E)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 281866	NM_001429.4(EP300):c.739A>G (p.Met247Val)	EP300 (M247V)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +2 more	GConflicting classifications of pathogenicity
Select item 2756682	NM_001429.4(EP300):c.742A>C (p.Asn248His)	EP300 (N248H)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 1313391	NM_001429.4(EP300):c.746A>T (p.Asn249Ile)	EP300 (N249I)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency +1 more	GUncertain significance
Select item 2139634	NM_001429.4(EP300):c.750C>T (p.Pro250=)	EP300	Single nucleotide variant (synonymous variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GBenign
Select item 134045	NM_001429.4(EP300):c.752A>G (p.Asn251Ser)	EP300 (N251S)	Single nucleotide variant (missense variant)	EP300-related condition +2 more	GBenign/Likely benign
Select item 2416411	NM_001429.4(EP300):c.757T>C (p.Tyr253His)	EP300 (Y253H)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GLikely benign

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