ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
Download table as spreadsheet
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_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.1957C>T (p.Gln653Ter)
NM_001429.4(EP300):c.2244_2250TATGGGC[1] (p.Tyr751fs)
NM_001429.4(EP300):c.3367del (p.Met1124fs)
NM_001429.4(EP300):c.3438_3439del (p.Glu1147fs)
NM_001429.4(EP300):c.4390C>T (p.Gln1464Ter)
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.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.7244A>G (p.Ter2415Trp)
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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.