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

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 113

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HGVS	dbSNP	gnomAD frequency
NM_001429.4(EP300):c.*745del	rs532524940	0.00291
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=)	rs61759495	0.00177
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)	rs199990883	0.00113
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro)	rs587783504	0.00030
NM_001429.4(EP300):c.4026G>A (p.Arg1342=)	rs146119145	0.00016
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val)	rs369459749	0.00009
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met)	rs369930675	0.00009
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr)	rs759047530	0.00009
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser)	rs587783466	0.00008
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser)	rs148023511	0.00007
NM_004380.3(CREBBP):c.2505G>T (p.Met835Ile)	rs759041100	0.00004
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala)	rs749249146	0.00004
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met)	rs760771706	0.00003
NM_001429.4(EP300):c.6437C>A (p.Pro2146His)	rs745528077	0.00002
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=)	rs587783474	0.00002
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=)	rs370689343	0.00002
NM_004380.3(CREBBP):c.7162G>A (p.Ala2388Thr)	rs756011865	0.00002
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met)	rs542970560	0.00001
NM_004380.3(CREBBP):c.3641A>G (p.Tyr1214Cys)	rs1272691121	0.00001
NM_004380.3(CREBBP):c.3893A>G (p.Tyr1298Cys)	rs773159964	0.00001
NM_004380.3(CREBBP):c.437C>T (p.Ala146Val)	rs1295662710	0.00001
NM_004380.3(CREBBP):c.5843C>T (p.Pro1948Leu)	rs557611780	0.00001
NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp)	rs1211983012	0.00001
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu)	rs587783512	0.00001
NC_000016.9:g.(?_3929813)_(4387545_?)dup
NM_001429.4(EP300):c.40_44del	rs751376755
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.785_786del	rs886057577
NM_001429.4(EP300):c.*921dup	rs1161532977
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.*926AC[18]	rs59721178
NM_001429.4(EP300):c.*926AC[20]	rs59721178
NM_001429.4(EP300):c.*926AC[22]	rs59721178
NM_001429.4(EP300):c.*926AC[23]	rs59721178
NM_001429.4(EP300):c.1516A>G (p.Met506Val)	rs886057556
NM_001429.4(EP300):c.2242-6_2242-4del	rs747710183
NM_001429.4(EP300):c.3143-4del	rs757931697
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met)	rs143660871
NM_001429.4(EP300):c.7014_7028del (p.His2338_Pro2342del)	rs1601642386
NM_004380.3(CREBBP):c.1213C>G (p.Gln405Glu)	rs2053544204
NM_004380.3(CREBBP):c.1655C>T (p.Pro552Leu)
NM_004380.3(CREBBP):c.1776G>C (p.Trp592Cys)
NM_004380.3(CREBBP):c.1941+8G>A	rs761673254
NM_004380.3(CREBBP):c.1955A>C (p.His652Pro)	rs587783468
NM_004380.3(CREBBP):c.2314C>A (p.Pro772Thr)	rs1555482779
NM_004380.3(CREBBP):c.239C>G (p.Ser80Cys)	rs1318683084
NM_004380.3(CREBBP):c.2417T>A (p.Met806Lys)	rs1596895058
NM_004380.3(CREBBP):c.2417T>C (p.Met806Thr)	rs1596895058
NM_004380.3(CREBBP):c.2417T>G (p.Met806Arg)	rs1596895058
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr)	rs750178517
NM_004380.3(CREBBP):c.2505G>A (p.Met835Ile)	rs759041100
NM_004380.3(CREBBP):c.2530C>T (p.Pro844Ser)	rs2052990480
NM_004380.3(CREBBP):c.2606T>C (p.Leu869Pro)	rs587783472
NM_004380.3(CREBBP):c.2701C>T (p.Pro901Ser)
NM_004380.3(CREBBP):c.283G>A (p.Val95Met)	rs756802946
NM_004380.3(CREBBP):c.2891C>T (p.Ala964Val)
NM_004380.3(CREBBP):c.3163G>T (p.Val1055Leu)
NM_004380.3(CREBBP):c.3190G>A (p.Glu1064Lys)	rs886041006
NM_004380.3(CREBBP):c.3227C>T (p.Ser1076Phe)	rs1476678901
NM_004380.3(CREBBP):c.3249A>T (p.Lys1083Asn)	rs2141181124
NM_004380.3(CREBBP):c.336G>C (p.Met112Ile)
NM_004380.3(CREBBP):c.3571C>A (p.Pro1191Thr)	rs2151383193
NM_004380.3(CREBBP):c.3698+5G>T	rs1596852349
NM_004380.3(CREBBP):c.3699-11C>A
NM_004380.3(CREBBP):c.3836C>G (p.Pro1279Arg)	rs749189606
NM_004380.3(CREBBP):c.3839T>A (p.Phe1280Tyr)
NM_004380.3(CREBBP):c.3892T>C (p.Tyr1298His)	rs2052315739
NM_004380.3(CREBBP):c.3907C>T (p.Pro1303Ser)	rs2151355349
NM_004380.3(CREBBP):c.3989A>G (p.Gln1330Arg)	rs587783487
NM_004380.3(CREBBP):c.4013T>G (p.Leu1338Trp)	rs2151341032
NM_004380.3(CREBBP):c.4090A>G (p.Ser1364Gly)
NM_004380.3(CREBBP):c.4141G>A (p.Asp1381Asn)	rs2052155279
NM_004380.3(CREBBP):c.4279A>G (p.Arg1427Gly)	rs794727401
NM_004380.3(CREBBP):c.4394+3_4394+7del	rs1596810185
NM_004380.3(CREBBP):c.4490A>C (p.Lys1497Thr)
NM_004380.3(CREBBP):c.4559A>T (p.Lys1520Met)	rs1596805575
NM_004380.3(CREBBP):c.4571A>G (p.Lys1524Arg)
NM_004380.3(CREBBP):c.4666C>G (p.Leu1556Val)
NM_004380.3(CREBBP):c.4804C>A (p.Arg1602Ser)	rs2151319330
NM_004380.3(CREBBP):c.4894T>C (p.Phe1632Leu)	rs587783501
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)	rs587783502
NM_004380.3(CREBBP):c.5238G>T (p.Gly1746=)
NM_004380.3(CREBBP):c.5242G>T (p.Gly1748Cys)
NM_004380.3(CREBBP):c.5352G>T (p.Gln1784His)
NM_004380.3(CREBBP):c.5456G>A (p.Cys1819Tyr)
NM_004380.3(CREBBP):c.5611A>C (p.Thr1871Pro)	rs2051850835
NM_004380.3(CREBBP):c.5629G>A (p.Val1877Met)
NM_004380.3(CREBBP):c.5804C>T (p.Thr1935Ile)	rs2151308115
NM_004380.3(CREBBP):c.5842C>A (p.Pro1948Thr)	rs1231016252
NM_004380.3(CREBBP):c.5844_5846dup (p.Ala1949dup)	rs2151307787
NM_004380.3(CREBBP):c.6007C>T (p.Pro2003Ser)	rs1282498604
NM_004380.3(CREBBP):c.6028G>A (p.Gly2010Arg)	rs751739281
NM_004380.3(CREBBP):c.6122C>G (p.Ser2041Cys)
NM_004380.3(CREBBP):c.6454C>T (p.Pro2152Ser)	rs773348705
NM_004380.3(CREBBP):c.6557A>T (p.Asn2186Ile)	rs1358192617
NM_004380.3(CREBBP):c.6559C>T (p.Pro2187Ser)	rs2151303211
NM_004380.3(CREBBP):c.668G>C (p.Gly223Ala)	rs2054806972
NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu)	rs781438241
NM_004380.3(CREBBP):c.7028T>G (p.Val2343Gly)
NM_004380.3(CREBBP):c.718G>T (p.Ala240Ser)
NM_004380.3(CREBBP):c.719C>T (p.Ala240Val)
NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn)	rs895608889
NM_004380.3(CREBBP):c.772A>G (p.Thr258Ala)	rs1597053070
NM_004380.3(CREBBP):c.875G>A (p.Gly292Glu)
NM_004380.3(CREBBP):c.878T>A (p.Val293Glu)	rs1239213391

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