ClinVar Miner

List of variants reported as pathogenic for Rubinstein-Taybi syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 215
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HGVS dbSNP
CREBBP, 2-BP DEL, NT5222
GRCh37/hg19 16p13.3(chr16:3794894-3795355)
NC_000016.9:g.(?_3777699)_(4852592_?)del
NC_000016.9:g.(?_3799608)_(3821007_?)dup
NC_000016.9:g.(?_3817701)_(3817930_?)dup
NC_000016.9:g.(?_3830713)_(3831327_?)del
NC_000022.10:g.(41537227_41542742)_(41560135_41562602)dup
NC_000022.10:g.(?_41550979)_(41560154_?)del
NC_000022.11:g.(?_41092585)_(41093099_41117186)del
NC_000022.11:g.41157392dup
NG_009873.1:g.(?_5000)_(160068_?)del
NM_001079846.1(CREBBP):c.1062dup (p.Gln355fs) rs1567318022
NM_001079846.1(CREBBP):c.1063C>T (p.Gln355Ter) rs587783460
NM_001079846.1(CREBBP):c.1069C>T (p.Gln357Ter) rs121434625
NM_001079846.1(CREBBP):c.1156C>T (p.Arg386Ter) rs587783461
NM_001079846.1(CREBBP):c.1216+1312C>T rs1302427305
NM_001079846.1(CREBBP):c.1216+1332G>A rs587783463
NM_001079846.1(CREBBP):c.1216+1345C>T rs587783464
NM_001079846.1(CREBBP):c.1216+1355_1216+1356del rs1567316655
NM_001079846.1(CREBBP):c.1333C>T (p.Arg445Ter) rs1555484797
NM_001079846.1(CREBBP):c.1446_1447TC[1] (p.Leu483fs) rs1567309482
NM_001079846.1(CREBBP):c.1476del (p.Asn492fs) rs587783465
NM_001079846.1(CREBBP):c.1707del (p.Lys569fs) rs587783467
NM_001079846.1(CREBBP):c.1803dup (p.Met602fs) rs1567306142
NM_001079846.1(CREBBP):c.1827+1G>A rs1555483834
NM_001079846.1(CREBBP):c.1827+1G>T rs1555483834
NM_001079846.1(CREBBP):c.1891_1892delinsT (p.Lys630_Arg631insTer)
NM_001079846.1(CREBBP):c.1912del (p.Gln638fs) rs587783469
NM_001079846.1(CREBBP):c.2008_2009del (p.Leu670fs) rs587783470
NM_001079846.1(CREBBP):c.2064dup (p.Met689fs) rs797045483
NM_001079846.1(CREBBP):c.2421C>A (p.Cys807Ter) rs587783471
NM_001079846.1(CREBBP):c.2488_2489TC[2] (p.Leu831fs) rs587783473
NM_001079846.1(CREBBP):c.2565_2576delinsCC (p.Ser856fs) rs797045484
NM_001079846.1(CREBBP):c.2614A>G (p.Thr872Ala) rs143247685
NM_001079846.1(CREBBP):c.2641C>T (p.Gln881Ter)
NM_001079846.1(CREBBP):c.2677C>T (p.Gln893Ter) rs587783475
NM_001079846.1(CREBBP):c.2696dup (p.Ser900fs) rs797045485
NM_001079846.1(CREBBP):c.282dup (p.Val95fs) rs797045486
NM_001079846.1(CREBBP):c.286C>T (p.Gln96Ter) rs587783476
NM_001079846.1(CREBBP):c.2947-1G>T rs1555481030
NM_001079846.1(CREBBP):c.2963_2971delinsAA (p.Leu988_Ala991delinsTer) rs797045488
NM_001079846.1(CREBBP):c.299del (p.Gly100fs) rs587783477
NM_001079846.1(CREBBP):c.2T>A (p.Met1Lys) rs797045487
NM_001079846.1(CREBBP):c.314_315del (p.Gly105fs)
NM_001079846.1(CREBBP):c.316C>T (p.Gln106Ter) rs587783478
NM_001079846.1(CREBBP):c.3196C>T (p.Gln1066Ter) rs587783479
NM_001079846.1(CREBBP):c.3255+1G>T rs587783480
NM_001079846.1(CREBBP):c.3322C>T (p.Gln1108Ter) rs797045489
NM_001079846.1(CREBBP):c.3347dup (p.Asp1117fs) rs797045490
NM_001079846.1(CREBBP):c.3410A>G (p.Tyr1137Cys) rs28937315
NM_001079846.1(CREBBP):c.348_349dup (p.Ala117fs) rs797045491
NM_001079846.1(CREBBP):c.3499G>T (p.Glu1167Ter) rs587783482
NM_001079846.1(CREBBP):c.3665+1G>A rs587783483
NM_001079846.1(CREBBP):c.3718G>A (p.Glu1240Lys) rs267606752
NM_001079846.1(CREBBP):c.3722+1G>A rs200782888
NM_001079846.1(CREBBP):c.3722+1G>C rs200782888
NM_001079846.1(CREBBP):c.3723-2A>T rs1567277287
NM_001079846.1(CREBBP):c.3800+1G>T rs1555475352
NM_001079846.1(CREBBP):c.3863del (p.Ala1288fs) rs1567276741
NM_001079846.1(CREBBP):c.3868+1G>A rs398124145
NM_001079846.1(CREBBP):c.3869-2A>G rs587783486
NM_001079846.1(CREBBP):c.3931C>T (p.Gln1311Ter) rs587783489
NM_001079846.1(CREBBP):c.3964C>T (p.Arg1322Ter) rs587783490
NM_001079846.1(CREBBP):c.4019+1G>A rs587783491
NM_001079846.1(CREBBP):c.4019G>C (p.Arg1340Pro) rs121434626
NM_001079846.1(CREBBP):c.406C>T (p.Gln136Ter) rs121434624
NM_001079846.1(CREBBP):c.4116dup (p.Gly1373fs) rs1555473668
NM_001079846.1(CREBBP):c.4280G>A (p.Gly1427Glu) rs1555473491
NM_001079846.1(CREBBP):c.4284T>A (p.Tyr1428Ter) rs147688139
NM_001079846.1(CREBBP):c.4330T>G (p.Tyr1444Asp) rs587783495
NM_001079846.1(CREBBP):c.4394A>G (p.Tyr1465Cys) rs587783497
NM_001079846.1(CREBBP):c.4445A>G (p.Lys1482Arg)
NM_001079846.1(CREBBP):c.4528_4529GT[1] (p.Leu1511fs) rs1555472938
NM_001079846.1(CREBBP):c.4546A>T (p.Lys1516Ter) rs1567269316
NM_001079846.1(CREBBP):c.4549G>T (p.Glu1517Ter) rs1555472931
NM_001079846.1(CREBBP):c.4558C>T (p.Gln1520Ter)
NM_001079846.1(CREBBP):c.4575del (p.Lys1527fs) rs587783499
NM_001079846.1(CREBBP):c.4678del (p.Ser1560fs) rs587783500
NM_001079846.1(CREBBP):c.472del (p.Gln158fs) rs1555496581
NM_001079846.1(CREBBP):c.4900A>T (p.Arg1634Ter) rs1555471874
NM_001079846.1(CREBBP):c.4913G>A (p.Trp1638Ter) rs797045495
NM_001079846.1(CREBBP):c.4922_4924CCT[1] (p.Ser1642del) rs587783502
NM_001079846.1(CREBBP):c.508C>T (p.Gln170Ter) rs1555496560
NM_001079846.1(CREBBP):c.5525_5526AG[1] (p.Leu1844fs) rs1567263114
NM_001079846.1(CREBBP):c.5580_5589del (p.Ser1860fs) rs1555471323
NM_001079846.1(CREBBP):c.5707C>T (p.Gln1903Ter) rs587783505
NM_001079846.1(CREBBP):c.5720_5730del (p.Pro1907fs) rs587783506
NM_001079846.1(CREBBP):c.5723del (p.Pro1908fs) rs587783507
NM_001079846.1(CREBBP):c.5723dup (p.Pro1909fs) rs587783507
NM_001079846.1(CREBBP):c.5755del (p.Glu1919fs) rs587783508
NM_001079846.1(CREBBP):c.5791C>T (p.Gln1931Ter) rs1567262537
NM_001079846.1(CREBBP):c.5822_5823insT (p.Ser1942fs) rs797045498
NM_001079846.1(CREBBP):c.5974C>T (p.Gln1992Ter) rs587783510
NM_001079846.1(CREBBP):c.598C>T (p.Gln200Ter) rs587783509
NM_001079846.1(CREBBP):c.5993_6002del (p.Pro1998fs) rs797045499
NM_001079846.1(CREBBP):c.6281_6303dup (p.Gln2102fs) rs797045500
NM_001079846.1(CREBBP):c.827_828dup (p.Gly277fs) rs797045502
NM_001079846.1(CREBBP):c.86-1G>T rs11644721
NM_001079846.1(CREBBP):c.86-2A>C rs587783515
NM_001079846.1(CREBBP):c.953C>A (p.Ser318Ter) rs587783516
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.102_103CT[1] (p.Ser35fs) rs886037664
NM_001429.4(EP300):c.1606_1610delinsTATGTTGAGCCATAACTGCATGTTGAGCCCA (p.Ala536_Ile537delinsTyrValGluProTer)
NM_001429.4(EP300):c.1942C>T (p.Arg648Ter) rs137853039
NM_001429.4(EP300):c.1957C>T (p.Gln653Ter)
NM_001429.4(EP300):c.2164dup (p.Gln722fs) rs879253873
NM_001429.4(EP300):c.2244_2250TATGGGC[1] (p.Tyr751fs)
NM_001429.4(EP300):c.2877_2884del (p.Thr960fs) rs1569108381
NM_001429.4(EP300):c.2983G>T (p.Glu995Ter) rs1555909666
NM_001429.4(EP300):c.3070_3071insT (p.Lys1024fs)
NM_001429.4(EP300):c.3070_3074del (p.Lys1024fs) rs1555909697
NM_001429.4(EP300):c.3163C>T (p.Arg1055Ter) rs886041830
NM_001429.4(EP300):c.3166C>T (p.Gln1056Ter)
NM_001429.4(EP300):c.3262-2A>G rs1555910114
NM_001429.4(EP300):c.3367del (p.Met1124fs)
NM_001429.4(EP300):c.3438_3439del (p.Glu1147fs)
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter) rs565779970
NM_001429.4(EP300):c.3684_3687del (p.Lys1228fs) rs1555910482
NM_001429.4(EP300):c.3707dup (p.Asn1236fs)
NM_001429.4(EP300):c.3728+5G>C rs1114167305
NM_001429.4(EP300):c.4390C>T (p.Gln1464Ter)
NM_001429.4(EP300):c.4511T>G (p.Phe1504Cys) rs1114167306
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter) rs1569118537
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr) rs1057521737
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.4836dup (p.Val1613fs) rs797045559
NM_001429.4(EP300):c.4933C>T (p.Arg1645Ter) rs139310551
NM_001429.4(EP300):c.494_497del (p.Met165fs)
NM_001429.4(EP300):c.4954_4957dup (p.Cys1653fs) rs1555912040
NM_001429.4(EP300):c.5578_5584del (p.Gly1860fs)
NM_001429.4(EP300):c.5747dup (p.Pro1917fs)
NM_001429.4(EP300):c.638del (p.Gly213fs) rs1569090642
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.68_69TC[1] (p.Ser24fs) rs1555902247
NM_001429.4(EP300):c.6915_6918del (p.Asn2305fs) rs797045560
NM_001429.4(EP300):c.7100del (p.Pro2367fs) rs1569122847
NM_001429.4(EP300):c.7220_7221CA[1] (p.Gln2408fs) rs1057519375
NM_001429.4(EP300):c.7244A>G (p.Ter2415Trp)
NM_001429.4(EP300):c.769_786del (p.Tyr257_Gly262del) rs876661318
NM_001429.4:c.730_1760del
NM_004380.2(CREBBP):c.(?_-23)_85+?del
NM_004380.2(CREBBP):c.-204_85del rs1567386034
NM_004380.2(CREBBP):c.[4112T>A;4118C>A]
NM_004380.3(CREBBP):c.1044del (p.Glu349fs)
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter)
NM_004380.3(CREBBP):c.1124del (p.Gly375fs)
NM_004380.3(CREBBP):c.1125_1126AG[3] (p.Val377fs)
NM_004380.3(CREBBP):c.1216+2T>A
NM_004380.3(CREBBP):c.1225_1231del (p.Cys409fs)
NM_004380.3(CREBBP):c.1483C>T (p.Gln495Ter)
NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter)
NM_004380.3(CREBBP):c.1573+1G>A
NM_004380.3(CREBBP):c.1646C>G (p.Ser549Ter)
NM_004380.3(CREBBP):c.1694del (p.Gly565fs)
NM_004380.3(CREBBP):c.173_185del (p.Asn58fs)
NM_004380.3(CREBBP):c.1824-1G>A
NM_004380.3(CREBBP):c.1855dup (p.Ala619fs)
NM_004380.3(CREBBP):c.1907_1912del (p.Val636_Glu637del)
NM_004380.3(CREBBP):c.1941+2T>C
NM_004380.3(CREBBP):c.2159-1G>T
NM_004380.3(CREBBP):c.2322del (p.Asn774fs)
NM_004380.3(CREBBP):c.2330del (p.Gly777fs)
NM_004380.3(CREBBP):c.243_244insTA (p.Ile82Ter)
NM_004380.3(CREBBP):c.2456dup (p.Ser820fs)
NM_004380.3(CREBBP):c.2713_2719del (p.Ser905fs)
NM_004380.3(CREBBP):c.2773C>T (p.Gln925Ter)
NM_004380.3(CREBBP):c.2787dup (p.Pro930fs)
NM_004380.3(CREBBP):c.2817_2818delinsT (p.Ala940fs)
NM_004380.3(CREBBP):c.2854_2863dup (p.Gln955fs)
NM_004380.3(CREBBP):c.2910dup (p.Arg971fs)
NM_004380.3(CREBBP):c.2911A>T (p.Arg971Ter)
NM_004380.3(CREBBP):c.3020_3021dup (p.Pro1008fs)
NM_004380.3(CREBBP):c.3058G>T (p.Glu1020Ter)
NM_004380.3(CREBBP):c.3060+1G>T
NM_004380.3(CREBBP):c.3097A>T (p.Lys1033Ter)
NM_004380.3(CREBBP):c.3168dup (p.Val1057fs)
NM_004380.3(CREBBP):c.3292del (p.Thr1097_Leu1098insTer)
NM_004380.3(CREBBP):c.3330_3334del (p.Phe1111fs)
NM_004380.3(CREBBP):c.3366dup (p.Pro1123fs)
NM_004380.3(CREBBP):c.3432_3433del (p.Gly1145fs)
NM_004380.3(CREBBP):c.3610-1G>C
NM_004380.3(CREBBP):c.3610-2A>G
NM_004380.3(CREBBP):c.3625C>T (p.Gln1209Ter)
NM_004380.3(CREBBP):c.3659_3660delinsATGGTA (p.Thr1220fs)
NM_004380.3(CREBBP):c.3661_3665del (p.Ile1221fs)
NM_004380.3(CREBBP):c.3690T>G (p.Tyr1230Ter)
NM_004380.3(CREBBP):c.376G>T (p.Gly126Ter)
NM_004380.3(CREBBP):c.3779+1G>T
NM_004380.3(CREBBP):c.3832del (p.Glu1278fs)
NM_004380.3(CREBBP):c.3914+1G>A
NM_004380.3(CREBBP):c.4078dup (p.Arg1360fs)
NM_004380.3(CREBBP):c.4174C>T (p.Arg1392Ter)
NM_004380.3(CREBBP):c.4206del (p.Ile1402fs)
NM_004380.3(CREBBP):c.4243C>T (p.Gln1415Ter)
NM_004380.3(CREBBP):c.4290C>A (p.Tyr1430Ter)
NM_004380.3(CREBBP):c.4458_4459insT (p.His1487fs)
NM_004380.3(CREBBP):c.4644_4646dup (p.Leu1549dup)
NM_004380.3(CREBBP):c.4728+2del
NM_004380.3(CREBBP):c.4890+1G>A
NM_004380.3(CREBBP):c.494_507del (p.Ser165fs)
NM_004380.3(CREBBP):c.5722del (p.Gln1908fs)
NM_004380.3(CREBBP):c.5790dup (p.Thr1931fs)
NM_004380.3(CREBBP):c.5845dup (p.Ala1949fs)
NM_004380.3(CREBBP):c.5856dup (p.Pro1953fs)
NM_004380.3(CREBBP):c.5986del (p.Ala1996fs)
NM_004380.3(CREBBP):c.6113_6137del (p.Pro2038fs)
NM_004380.3(CREBBP):c.6113_6137dup (p.Ala2047fs)
NM_004380.3(CREBBP):c.613C>T (p.Gln205Ter)
NM_004380.3(CREBBP):c.6221_6230del (p.Leu2074fs)
NM_004380.3(CREBBP):c.6395_6417del (p.Gly2132fs)
NM_004380.3(CREBBP):c.6436C>T (p.Gln2146Ter)
NM_004380.3(CREBBP):c.662_698del (p.Gly221fs)
NM_004380.3(CREBBP):c.967_974dup (p.Met325fs)
NM_004380.3(CREBBP):c.997G>T (p.Gly333Ter)

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