ClinVar Miner

List of variants reported as pathogenic for Rubinstein-Taybi syndrome 1 by Wessex Regional Genetics Laboratory,Salisbury District Hospital

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Total variants: 77
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HGVS dbSNP
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+1345C>T rs587783464
NM_001079846.1(CREBBP):c.3255+1G>T rs587783480
NM_001079846.1(CREBBP):c.3665+1G>A rs587783483
NM_001079846.1(CREBBP):c.3722+1G>A rs200782888
NM_001079846.1(CREBBP):c.3964C>T (p.Arg1322Ter) rs587783490
NM_001079846.1(CREBBP):c.4528_4529GT[1] (p.Leu1511fs) rs1555472938
NM_001079846.1(CREBBP):c.4922_4924CCT[1] (p.Ser1642del) rs587783502
NM_001079846.1(CREBBP):c.5723dup (p.Pro1909fs) rs587783507
NM_001079846.1(CREBBP):c.5791C>T (p.Gln1931Ter) rs1567262537
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.173_185del (p.Asn58fs)
NM_004380.3(CREBBP):c.1824-1G>A
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.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.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.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.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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