ClinVar Miner

List of variants in gene EP300 reported as uncertain significance for Rubinstein-Taybi syndrome due to CREBBP mutations

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP
NM_001429.3(EP300):c.2242-6_2242-4delTTT rs747710183
NM_001429.3(EP300):c.3143-4delT rs757931697
NM_001429.4(EP300):c.*40_*44del rs751376755
NM_001429.4(EP300):c.*552G>A rs886057574
NM_001429.4(EP300):c.*559A>G rs886057575
NM_001429.4(EP300):c.*591_*592dup rs60283061
NM_001429.4(EP300):c.*592del rs60283061
NM_001429.4(EP300):c.*592dup rs60283061
NM_001429.4(EP300):c.*745del rs532524940
NM_001429.4(EP300):c.*753T>C rs886057576
NM_001429.4(EP300):c.*785_*786del rs886057577
NM_001429.4(EP300):c.*844G>A rs532999218
NM_001429.4(EP300):c.*921dup rs1161532977
NM_001429.4(EP300):c.*922A>C rs146984033
NM_001429.4(EP300):c.*922_*930delinsC rs1555912614
NM_001429.4(EP300):c.*922_*930delinsCCC rs1555912614
NM_001429.4(EP300):c.*922_*932delinsC rs886057580
NM_001429.4(EP300):c.*922_*932delinsCCC rs886057580
NM_001429.4(EP300):c.*922_*938delinsC rs886057581
NM_001429.4(EP300):c.*922_*942delinsC rs1555912616
NM_001429.4(EP300):c.*922_*942delinsCC rs1555912616
NM_001429.4(EP300):c.*924T>A rs149250603
NM_001429.4(EP300):c.*924T>C rs149250603
NM_001429.4(EP300):c.*926A>C rs140429533
NM_001429.4(EP300):c.*926_*927AC[18] rs59721178
NM_001429.4(EP300):c.*926_*927AC[20] rs59721178
NM_001429.4(EP300):c.*926_*927AC[22] rs59721178
NM_001429.4(EP300):c.*926_*927AC[23] rs59721178
NM_001429.4(EP300):c.*928A>C rs142198417
NM_001429.4(EP300):c.*930A>C rs879634387
NM_001429.4(EP300):c.*932A>C rs886057585
NM_001429.4(EP300):c.*938A>C rs886057586
NM_001429.4(EP300):c.*942A>C rs754018515
NM_001429.4(EP300):c.*968T>A rs3210590
NM_001429.4(EP300):c.-139A>G rs886057554
NM_001429.4(EP300):c.-149G>A rs553861147
NM_001429.4(EP300):c.-192C>T rs763177046
NM_001429.4(EP300):c.-212C>T rs886057553
NM_001429.4(EP300):c.-237C>T rs886057552
NM_001429.4(EP300):c.-238T>C rs886057551
NM_001429.4(EP300):c.-363A>C rs886057550
NM_001429.4(EP300):c.102C>G (p.Gly34=) rs750031887
NM_001429.4(EP300):c.1302C>T (p.Pro434=) rs199901345
NM_001429.4(EP300):c.1516A>G (p.Met506Val) rs886057556
NM_001429.4(EP300):c.1540A>G (p.Met514Val) rs765266179
NM_001429.4(EP300):c.157T>C (p.Leu53=) rs147566983
NM_001429.4(EP300):c.1784C>T (p.Pro595Leu) rs886057557
NM_001429.4(EP300):c.2131+13A>T rs886057558
NM_001429.4(EP300):c.2174T>C (p.Ile725Thr) rs375822328
NM_001429.4(EP300):c.2393G>A (p.Ser798Asn) rs781326261
NM_001429.4(EP300):c.2536C>T (p.Pro846Ser) rs886057560
NM_001429.4(EP300):c.2580A>G (p.Pro860=) rs752536439
NM_001429.4(EP300):c.2629G>A (p.Ala877Thr) rs772289466
NM_001429.4(EP300):c.2931G>C (p.Lys977Asn) rs749225428
NM_001429.4(EP300):c.3143-7T>G rs778277906
NM_001429.4(EP300):c.363G>C (p.Met121Ile) rs757476470
NM_001429.4(EP300):c.444G>C (p.Thr148=) rs376779611
NM_001429.4(EP300):c.4598C>A (p.Thr1533Asn) rs886057561
NM_001429.4(EP300):c.4908C>T (p.Asp1636=) rs886057562
NM_001429.4(EP300):c.5028T>C (p.His1676=) rs747152661
NM_001429.4(EP300):c.5061+7A>G rs886057563
NM_001429.4(EP300):c.513G>A (p.Ala171=) rs146041458
NM_001429.4(EP300):c.5172C>A (p.Thr1724=) rs142330184
NM_001429.4(EP300):c.5179C>T (p.Pro1727Ser) rs886057564
NM_001429.4(EP300):c.5262A>G (p.Ser1754=) rs886057565
NM_001429.4(EP300):c.5604G>A (p.Thr1868=) rs200795114
NM_001429.4(EP300):c.5644A>G (p.Ser1882Gly) rs769796204
NM_001429.4(EP300):c.5889C>T (p.Ala1963=) rs886057566
NM_001429.4(EP300):c.615G>A (p.Met205Ile) rs766306644
NM_001429.4(EP300):c.6289C>G (p.Pro2097Ala) rs200189212
NM_001429.4(EP300):c.6358G>T (p.Gly2120Cys) rs886057567
NM_001429.4(EP300):c.6374A>G (p.His2125Arg) rs886057568
NM_001429.4(EP300):c.6395A>T (p.Asn2132Ile) rs886057569
NM_001429.4(EP300):c.6437C>A (p.Pro2146His) rs745528077
NM_001429.4(EP300):c.6516C>A (p.His2172Gln) rs139382344
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser) rs779543207
NM_001429.4(EP300):c.667C>G (p.Leu223Val) rs746720991
NM_001429.4(EP300):c.684C>G (p.Pro228=) rs749187279
NM_001429.4(EP300):c.7017C>T (p.His2339=) rs759571982
NM_001429.4(EP300):c.7136A>G (p.Asn2379Ser) rs886057571
NM_001429.4(EP300):c.726T>A (p.Leu242=) rs886057555
NM_001429.4(EP300):c.781C>T (p.Pro261Ser) rs753462821

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