Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004380.3(CREBBP):c.406C>T (p.Gln136Ter)	SNV Germline	Chr16:3850689	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA254809	rs_121434624	2 SubmittersRCV000010035
NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter)	SNV Germline	Chr16:3793533	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA254811	rs_121434625	2 SubmittersRCV000010036
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro)	SNV Germline	Chr16:3740399	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations CREBBP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA254813	rs_121434626	3 SubmittersRCV000010037 RCV005249986
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)	SNV Germline	Chr16:3757894	Pathogenic/Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA254814	rs_28937315	6 SubmittersRCV000010039 RCV004609293
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)	SNV Germline	Chr16:3749631	Pathogenic/Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided Intellectual disability Inborn genetic diseases Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations Abnormality of the nervous system CREBBP-related disorder Rubinstein-Taybi syndrome	Criteria Provided Multiple Submitters No Conflicts	CA254815	rs_267606752	14 SubmittersRCV000010040 RCV000255660 RCV001260694 RCV001267080 RCV002496320 RCV001813970 RCV004742224 RCV006461131
NM_004380.3(CREBBP):c.3837-2A>T	SNV Germline	Chr16:3745356	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394566898	rs_1567277287	1 SubmittersRCV000010041
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=)	SNV Germline	Chr16:3793453	Conflicting classifications of pathogenicity	not specified Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome Condition: not provided Inborn genetic diseases CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA148108	rs_61759495	7 SubmittersRCV000081028 RCV000145712 RCV000872923 RCV001610371 RCV002311602 RCV003974969
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val)	SNV Germline	Chr16:3782888	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA222672	rs_369459749	6 SubmittersRCV000081029 RCV002265601 RCV002381401 RCV002514423 RCV004742248
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile)	SNV Germline	Chr16:3781229	Conflicting classifications of pathogenicity	not specified Condition: not provided Rubinstein-Taybi syndrome Inborn genetic diseases Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Conflicting Classifications	CA248673	rs_61753381	12 SubmittersRCV000081031 RCV000426201 RCV000550437 RCV002311603 RCV005628137
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg)	SNV Germline	Chr16:3773902	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA222683	rs_147805823	6 SubmittersRCV000081037 RCV001854429 RCV002477232 RCV002514426 RCV003974970
NM_004380.3(CREBBP):c.3982+1G>A	SNV Germline	Chr16:3744893	Pathogenic	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA222694	rs_398124145	2 SubmittersRCV000081051 RCV000499536
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)	SNV Germline/somatic	Chr16:3738617	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome Neoplasm Medulloblastoma WNT activated	Criteria Provided Conflicting Classifications	CA222695	rs_398124146	6 SubmittersRCV000081052 RCV000700948 RCV002228327 RCV004668773 RCV006253787
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)	SNV Germline	Chr16:3729328	Conflicting classifications of pathogenicity	not specified Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided Rubinstein-Taybi syndrome Inborn genetic diseases CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA248675	rs_199990883	13 SubmittersRCV000081061 RCV000145767 RCV000224624 RCV001085724 RCV002311611 RCV003982877
NM_004380.3(CREBBP):c.6956A>T (p.His2319Leu)	SNV Germline	Chr16:3728091	Conflicting classifications of pathogenicity	not specified Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA158195	rs_587778215	4 SubmittersRCV000120606 RCV002515834 RCV003415910 RCV005016410
NM_004380.3(CREBBP):c.6658G>A (p.Gly2220Ser)	SNV Germline	Chr16:3728389	Conflicting classifications of pathogenicity	not specified Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA158199	rs_141184151	4 SubmittersRCV000120608 RCV002514628 RCV004742264 RCV005016411
NM_004380.3(CREBBP):c.1514C>T (p.Pro505Leu)	SNV Germline	Chr16:3782743	Conflicting classifications of pathogenicity	not specified Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA158201	rs_369550568	4 SubmittersRCV000120609 RCV002515836 RCV003952591 RCV005016412
NM_004380.3(CREBBP):c.7040C>T (p.Ala2347Val)	SNV Germline	Chr16:3728007	Conflicting classifications of pathogenicity	not specified Rubinstein-Taybi syndrome Hearing impairment Inborn genetic diseases Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA171806	rs_182347573	5 SubmittersRCV000145780 RCV003593919 RCV005625317 RCV004975296 RCV005016465
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu)	SNV Germline	Chr16:3728598	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA271440	rs_587783512	5 SubmittersRCV000145778 RCV003758698 RCV003456371 RCV002492531 RCV003390831
NM_004380.3(CREBBP):c.6088C>T (p.Gln2030Ter)	SNV Germline	Chr16:3728959	Pathogenic/Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA271436	rs_587783510	2 SubmittersRCV000145775
NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter)	SNV Germline	Chr16:3729226	Pathogenic/Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA271429	rs_587783505	2 SubmittersRCV000145769 RCV004796043
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro)	SNV Germline	Chr16:3729247	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided Rubinstein-Taybi syndrome Tip-toe gait Inborn genetic diseases CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA243769	rs_587783504	8 SubmittersRCV000145768 RCV000177560 RCV001087896 RCV002221200 RCV002354332 RCV003935243
NM_004380.3(CREBBP):c.5050T>C (p.Ser1684Pro)	SNV Germline	Chr16:3731314	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271427	rs_587783503	1 SubmittersRCV000145765
NM_004380.3(CREBBP):c.4508A>G (p.Tyr1503Cys)	SNV Germline	Chr16:3736702	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271419	rs_587783497	1 SubmittersRCV000145757
NM_004380.3(CREBBP):c.4445A>G (p.Tyr1482Cys)	SNV Germline	Chr16:3736765	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271417	rs_587783496	1 SubmittersRCV000145756
NM_004380.3(CREBBP):c.4444T>G (p.Tyr1482Asp)	SNV Germline	Chr16:3736766	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271415	rs_587783495	1 SubmittersRCV000145755
NM_004380.3(CREBBP):c.4398T>A (p.Tyr1466Ter)	SNV Germline	Chr16:3736812	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271413	rs_147688139	1 SubmittersRCV000145754
NM_004380.3(CREBBP):c.4376A>G (p.Glu1459Gly)	SNV Germline	Chr16:3738577	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271411	rs_587783494	1 SubmittersRCV000145753
NM_004380.3(CREBBP):c.4281-11C>G	SNV Germline	Chr16:3738683	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271410	rs_587783493	1 SubmittersRCV000145752
NM_004380.3(CREBBP):c.4226T>C (p.Phe1409Ser)	SNV Germline	Chr16:3739632	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271408	rs_587783492	1 SubmittersRCV000145750
NM_004380.3(CREBBP):c.4133+1G>A	SNV Germline	Chr16:3740398	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271407	rs_587783491	1 SubmittersRCV000145749
NM_004380.3(CREBBP):c.4078C>T (p.Arg1360Ter)	SNV Germline	Chr16:3740454	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA271405	rs_587783490	3 SubmittersRCV000145748 RCV002464124
NM_004380.3(CREBBP):c.4045C>T (p.Gln1349Ter)	SNV Germline	Chr16:3740487	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271403	rs_587783489	1 SubmittersRCV000145747
NM_004380.3(CREBBP):c.4022G>C (p.Arg1341Pro)	SNV Germline	Chr16:3740510	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271401	rs_587783488	1 SubmittersRCV000145746
NM_004380.3(CREBBP):c.3983-2A>G	SNV Germline	Chr16:3740551	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271398	rs_587783486	1 SubmittersRCV000145744
NM_004380.3(CREBBP):c.3914+3G>T	SNV Germline	Chr16:3745274	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA271397	rs_587783485	2 SubmittersRCV000145743
NM_004380.3(CREBBP):c.3836+1G>A	SNV Germline	Chr16:3749626	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome Condition: not provided Malignant tumor of urinary bladder	Criteria Provided Multiple Submitters No Conflicts	CA271396	rs_200782888	6 SubmittersRCV000145741 RCV001390957 RCV004589638 RCV005888121
NM_004380.3(CREBBP):c.3779+1G>A	SNV Germline	Chr16:3751725	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided Intellectual disability Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome Cervical cancer	Criteria Provided Multiple Submitters No Conflicts	CA271393	rs_587783483	11 SubmittersRCV000145739 RCV000255068 RCV001260696 RCV002498664 RCV005089678 RCV005888120
NM_004380.3(CREBBP):c.3613G>T (p.Glu1205Ter)	SNV Germline	Chr16:3757373	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271391	rs_587783482	1 SubmittersRCV000145738
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys)	SNV Germline	Chr16:3757918	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA271389	rs_587783481	4 SubmittersRCV000145737 RCV002228523 RCV003895028
NM_004380.3(CREBBP):c.3369+1G>T	SNV Germline	Chr16:3758853	Pathogenic/Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA271388	rs_587783480	3 SubmittersRCV000145736 RCV001268616
NM_004380.3(CREBBP):c.3310C>T (p.Gln1104Ter)	SNV Germline	Chr16:3758913	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271386	rs_587783479	1 SubmittersRCV000145735
NM_004380.3(CREBBP):c.2791C>T (p.Gln931Ter)	SNV Germline	Chr16:3770659	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271379	rs_587783475	1 SubmittersRCV000145730
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=)	SNV Germline	Chr16:3770771	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome not specified	Criteria Provided Conflicting Classifications	CA271377	rs_587783474	3 SubmittersRCV000145727 RCV003593917 RCV005434655
NM_004380.3(CREBBP):c.2535C>A (p.Cys845Ter)	SNV Germline	Chr16:3770915	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271372	rs_587783471	1 SubmittersRCV000145724
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter)	SNV Germline	Chr16:3792041	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA271362	rs_587783464	5 SubmittersRCV000145716 RCV001824287
NM_004380.3(CREBBP):c.1257G>A (p.Trp419Ter)	SNV Germline	Chr16:3792054	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271360	rs_587783463	1 SubmittersRCV000145715
NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter)	SNV Germline	Chr16:3793446	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271358	rs_587783461	2 SubmittersRCV000145713
NM_004380.3(CREBBP):c.1063C>T (p.Gln355Ter)	SNV Germline	Chr16:3793539	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA271356	rs_587783460	2 SubmittersRCV000145711 RCV004589637
NM_004380.3(CREBBP):c.953C>A (p.Ser318Ter)	SNV Germline	Chr16:3810625	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Multiple Submitters No Conflicts	CA271443	rs_587783516	2 SubmittersRCV000145784 RCV005089681
NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter)	SNV Germline	Chr16:3850497	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations CREBBP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA271434	rs_587783509	3 SubmittersRCV000145774 RCV004724925
NM_004380.3(CREBBP):c.316C>T (p.Gln106Ter)	SNV Germline	Chr16:3850779	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271384	rs_587783478	1 SubmittersRCV000145734
NM_004380.3(CREBBP):c.286C>T (p.Gln96Ter)	SNV Germline	Chr16:3850809	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271381	rs_587783476	1 SubmittersRCV000145732
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser)	SNV Germline	Chr16:3850931	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome not specified	Criteria Provided Conflicting Classifications	CA271365	rs_587783466	4 SubmittersRCV000145718 RCV002478406 RCV003764886 RCV005434654
NM_004380.3(CREBBP):c.86-2A>C	SNV Germline	Chr16:3851011	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271442	rs_587783515	1 SubmittersRCV000145783
NM_004380.3(CREBBP):c.37A>G (p.Lys13Glu)	SNV Germline	Chr16:3879880	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271394	rs_587783484	1 SubmittersRCV000145740
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser)	SNV Germline	Chr16:3780823	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA233869	rs_148023511	5 SubmittersRCV000153119 RCV000764070 RCV002316965 RCV003105799 RCV004742280
NM_004380.3(CREBBP):c.5843C>T (p.Pro1948Leu)	SNV Germline	Chr16:3729204	Conflicting classifications of pathogenicity	Condition: not provided CREBBP-related disorder Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA243767	rs_557611780	6 SubmittersRCV000177559 RCV003416090 RCV003593928 RCV004799188 RCV005016521
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter)	SNV Unknown	Chr22:41158483	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA275975	rs_565779970	1 SubmittersRCV000990451
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)	SNV Germline	Chr16:3729433	Pathogenic/Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided Menke-Hennekam syndrome 1 Intellectual disability Rubinstein-Taybi syndrome CREBBP-related disorder Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA276136	rs_797045037	8 SubmittersRCV000191076 RCV000523539 RCV000757968 RCV001260745 RCV002517032 RCV003422092 RCV003458352
NM_004380.3(CREBBP):c.5412C>A (p.His1804Gln)	SNV Germline	Chr16:3729635	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA277274	rs_797045496	1 SubmittersRCV000194204
NM_004380.3(CREBBP):c.5027G>A (p.Trp1676Ter)	SNV Germline	Chr16:3731337	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA277127	rs_797045495	1 SubmittersRCV000193359
NM_004380.3(CREBBP):c.4281G>T (p.Arg1427Ser)	SNV Germline	Chr16:3738672	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA277444	rs_797045494	1 SubmittersRCV000195137
NM_004380.3(CREBBP):c.3490G>C (p.Ala1164Pro)	SNV Germline	Chr16:3757928	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Kabuki-like syndrome	Criteria Provided Single Submitter	CA277012	rs_797045492	2 SubmittersRCV000192723 RCV001261355
NM_004380.3(CREBBP):c.3436C>T (p.Gln1146Ter)	SNV Germline	Chr16:3757982	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA277030	rs_797045489	1 SubmittersRCV000192840
NM_004380.3(CREBBP):c.86-1G>T	SNV Germline	Chr16:3851010	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA277172	rs_11644721	1 SubmittersRCV000193581
NM_004380.3(CREBBP):c.2T>A (p.Met1Lys)	SNV Germline	Chr16:3879915	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA277198	rs_797045487	1 SubmittersRCV000193780
NM_004380.3(CREBBP):c.5237G>T (p.Gly1746Val)	SNV Germline	Chr16:3729810	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA357158	rs_869312714	1 SubmittersRCV000209852
NM_004380.3(CREBBP):c.4134-1G>T	SNV Germline	Chr16:3739725	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA10602670	rs_886041048	1 SubmittersRCV000258851
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly)	SNV Germline	Chr16:3736771	Pathogenic/Likely pathogenic	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA10603272	rs_886041286	4 SubmittersRCV000334678 RCV000850544
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter)	SNV Germline	Chr16:3728806	Pathogenic/Likely pathogenic	Condition: not provided Rare genetic intellectual disability Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA10603392	rs_886041518	3 SubmittersRCV000261393 RCV001256995 RCV002250613
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=)	SNV Germline	Chr16:3728369	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7869029	rs_750845399	5 SubmittersRCV000341039 RCV002487207 RCV002521902 RCV003939977
NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter)	SNV Germline	Chr16:3728803	Pathogenic	Scoliosis Global developmental delay Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA16043513	rs_1057518789	3 SubmittersRCV000414795 RCV000760803 RCV003326423
NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys)	SNV Germline	Chr16:3757288	Pathogenic/Likely pathogenic	Glaucoma Thumb deformity Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16043514	rs_1057518844	2 SubmittersRCV000415361 RCV001198296 RCV005090685
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His)	SNV Germline	Chr16:3738616	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA16602826	rs_1057519884	1 SubmittersRCV004594056
NM_004380.3(CREBBP):c.5336T>C (p.Leu1779Pro)	SNV Germline	Chr16:3729711	Pathogenic/Likely pathogenic	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA16620201	rs_1064796457	2 SubmittersRCV000483007 RCV005222963
NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter)	SNV Germline	Chr16:3728723	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA394553636	rs_199821421	2 SubmittersRCV000497205 RCV000623929
NM_004380.3(CREBBP):c.3914+1G>T	SNV Germline	Chr16:3745276	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394566710	rs_1555475352	1 SubmittersRCV000502986
NM_004380.3(CREBBP):c.1237C>T (p.Arg413Ter)	SNV Germline	Chr16:3792074	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided Menke-Hennekam syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA394560862	rs_1302427305	6 SubmittersRCV000501651 RCV000579110 RCV005869526
NM_004380.3(CREBBP):c.6275C>G (p.Ser2092Ter)	SNV Germline	Chr16:3728772	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394553744	rs_1555471077	1 SubmittersRCV000503664
NM_004380.3(CREBBP):c.7125C>T (p.His2375=)	SNV Germline	Chr16:3727922	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7868947	rs_746116315	3 SubmittersRCV000513559 RCV002490864 RCV002524961
NM_004380.3(CREBBP):c.508C>T (p.Gln170Ter)	SNV Germline	Chr16:3850587	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394560816	rs_1555496560	1 SubmittersRCV000527062
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val)	SNV Germline	Chr16:3728976	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Inborn genetic diseases Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7869187	rs_745551441	4 SubmittersRCV002231255 RCV002316527 RCV002497075 RCV003403260
NM_004380.3(CREBBP):c.1447C>T (p.Arg483Ter)	SNV Germline	Chr16:3782810	Pathogenic	Condition: not provided Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA394557681	rs_1555484797	3 SubmittersRCV001268046 RCV002231028 RCV003157633
NM_001429.4(EP300):c.3262-2A>G	SNV Germline	Chr22:41157167	Pathogenic/Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations CHARGE syndrome	No Assertion Criteria Provided	CA411694508	rs_1555910114	2 SubmittersRCV000578180 RCV001034552
NM_004380.3(CREBBP):c.4509C>G (p.Tyr1503Ter)	SNV Germline	Chr16:3736701	Pathogenic	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA394563542	rs_1555473105	2 SubmittersRCV000598406 RCV005231144
NM_004380.3(CREBBP):c.5905C>T (p.Gln1969Ter)	SNV Germline	Chr16:3729142	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394555031	rs_1567262537	2 SubmittersRCV000754905
NM_004380.3(CREBBP):c.4660A>T (p.Lys1554Ter)	SNV Germline	Chr16:3736104	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394562360	rs_1567269316	1 SubmittersRCV000754903
NM_004380.3(CREBBP):c.1941+1G>T	SNV Germline	Chr16:3778699	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394555076	rs_1555483834	1 SubmittersRCV000754898
NM_004380.3(CREBBP):c.271G>T (p.Ala91Ser)	SNV Germline	Chr16:3850824	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7870710	rs_200673670	3 SubmittersRCV000658735 RCV001198613 RCV003594013
NM_004380.3(CREBBP):c.3061-1G>T	SNV Germline	Chr16:3767910	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394571150	rs_1555481030	1 SubmittersRCV000661965
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln)	SNV Germline	Chr16:3729210	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Inborn genetic diseases Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Conflicting Classifications	CA7869240	rs_765600316	5 SubmittersRCV002233339 RCV002352188 RCV002485719 RCV003420244 RCV005863252
NM_004380.3(CREBBP):c.7162G>A (p.Ala2388Thr)	SNV Germline	Chr16:3727885	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA7868942	rs_756011865	3 SubmittersRCV000714678 RCV002369985 RCV004689865
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met)	SNV Germline	Chr16:3729307	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869250	rs_760771706	3 SubmittersRCV000714851 RCV002477653 RCV002532980
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser)	SNV Germline	Chr22:41177394	Conflicting classifications of pathogenicity	Condition: not provided Menke-Hennekam syndrome 2 Rubinstein-Taybi syndrome due to CREBBP mutations Colorectal cancer Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10253686	rs_749979249	4 SubmittersRCV000731278 RCV002493335 RCV002535200 RCV004027003
NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg)	SNV Germline	Chr16:3782737	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7870442	rs_766320521	4 SubmittersRCV000731898 RCV001868968 RCV002485905 RCV004742619
NM_004380.3(CREBBP):c.5638C>T (p.Gln1880Ter)	SNV Germline	Chr16:3729409	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Multiple Submitters No Conflicts	CA394555848	rs_2151309318	2 SubmittersRCV003147541 RCV003594027
NM_004380.3(CREBBP):c.3512C>G (p.Thr1171Arg)	SNV Germline	Chr16:3757906	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394568761	rs_1567287477	1 SubmittersRCV000760233
NM_004380.3(CREBBP):c.85+1G>A	SNV Unknown	Chr16:3879831	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394567664	rs_1597099388	1 SubmittersRCV000850371
NM_004380.3(CREBBP):c.6436C>T (p.Gln2146Ter)	SNV Unknown	Chr16:3728611	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394552732	rs_1596783639	1 SubmittersRCV000856797
NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His)	SNV Germline	Chr16:3731373	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA394558748	rs_1596791996	4 SubmittersRCV000856923 RCV001784472 RCV005021267
NM_004380.3(CREBBP):c.4613C>T (p.Pro1538Leu)	SNV Germline	Chr16:3736151	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided	Criteria Provided Single Submitter	CA394562714	rs_1596804126	2 SubmittersRCV000856919 RCV005633762
NM_004380.3(CREBBP):c.4460A>G (p.His1487Arg)	SNV Unknown	Chr16:3736750	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394563830	rs_1596805792	1 SubmittersRCV000856917
NM_004380.3(CREBBP):c.4417G>A (p.Ala1473Thr)	SNV Unknown	Chr16:3736793	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394564004	rs_1596805927	1 SubmittersRCV000856883
NM_004380.3(CREBBP):c.4303G>T (p.Asp1435Tyr)	SNV Germline	Chr16:3738650	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394564563	rs_1596810419	1 SubmittersRCV000856881
NM_004380.3(CREBBP):c.4297T>C (p.Tyr1433His)	SNV Germline	Chr16:3738656	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394564588	rs_1596810435	1 SubmittersRCV000856880
NM_004380.3(CREBBP):c.4290C>A (p.Tyr1430Ter)	SNV Unknown	Chr16:3738663	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394564613	rs_1596810465	1 SubmittersRCV000856879
NM_004380.3(CREBBP):c.4283G>C (p.Arg1428Pro)	SNV Germline	Chr16:3738670	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394564635	rs_778448390	1 SubmittersRCV000856878
NM_004380.3(CREBBP):c.4277C>G (p.Thr1426Arg)	SNV Germline	Chr16:3739581	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA394564684	rs_145988918	2 SubmittersRCV000856876 RCV006250893
NM_004380.3(CREBBP):c.4243C>T (p.Gln1415Ter)	SNV Unknown	Chr16:3739615	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394564758	rs_1596812202	1 SubmittersRCV000856875
NM_004380.3(CREBBP):c.4175G>T (p.Arg1392Leu)	SNV Unknown	Chr16:3739683	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394564911	rs_1596812290	1 SubmittersRCV000856874
NM_004380.3(CREBBP):c.4174C>T (p.Arg1392Ter)	SNV Germline	Chr16:3739684	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394564914	rs_1596812306	2 SubmittersRCV000856873
NM_004380.3(CREBBP):c.4145C>T (p.Ser1382Phe)	SNV Germline	Chr16:3739713	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA276982550	rs_149877180	1 SubmittersRCV000856872
NM_004380.3(CREBBP):c.4040G>C (p.Arg1347Pro)	SNV Unknown	Chr16:3740492	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394565397	rs_1596813665	1 SubmittersRCV000856870
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr)	SNV Germline	Chr16:3751786	Pathogenic/Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Multiple Submitters No Conflicts	CA394568097	rs_1596839714	3 SubmittersRCV000856912 RCV001858527
NM_004380.3(CREBBP):c.3690T>G (p.Tyr1230Ter)	SNV Unknown	Chr16:3757296	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394568316	rs_748451307	1 SubmittersRCV000856910
NM_004380.3(CREBBP):c.3625C>T (p.Gln1209Ter)	SNV Germline	Chr16:3757361	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases	Criteria Provided Single Submitter	CA394568487	rs_1596852578	2 SubmittersRCV000856907 RCV002453935
NM_004380.3(CREBBP):c.3535A>G (p.Ser1179Gly)	SNV Germline	Chr16:3757883	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394568709	rs_1596854023	1 SubmittersRCV000856904
NM_004380.3(CREBBP):c.3097A>T (p.Lys1033Ter)	SNV Unknown	Chr16:3767873	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394571000	rs_1596878921	1 SubmittersRCV000856864
NM_004380.3(CREBBP):c.3058G>T (p.Glu1020Ter)	SNV Unknown	Chr16:3769176	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394549571	rs_1596882010	1 SubmittersRCV000856862
NM_004380.3(CREBBP):c.2911A>T (p.Arg971Ter)	SNV Unknown	Chr16:3769323	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394549875	rs_1374436403	1 SubmittersRCV000856860
NM_004380.3(CREBBP):c.2773C>T (p.Gln925Ter)	SNV Unknown	Chr16:3770677	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394550831	rs_1596886132	1 SubmittersRCV000856855
NM_004380.3(CREBBP):c.1801C>T (p.Arg601Trp)	SNV Germline	Chr16:3780754	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394556374	rs_1354934373	1 SubmittersRCV000856895
NM_004380.3(CREBBP):c.1646C>G (p.Ser549Ter)	SNV Unknown	Chr16:3781234	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394556829	rs_1596917200	1 SubmittersRCV000856894
NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter)	SNV Germline	Chr16:3782708	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394557216	rs_1596920501	2 SubmittersRCV000856892 RCV001234331
NM_004380.3(CREBBP):c.1483C>T (p.Gln495Ter)	SNV Germline	Chr16:3782774	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided	Criteria Provided Single Submitter	CA394557519	rs_1596920745	2 SubmittersRCV000856891 RCV005436190
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter)	SNV Germline	Chr16:3793494	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Corpus callosum, agenesis of Rubinstein-Taybi syndrome	Criteria Provided Multiple Submitters No Conflicts	CA394563096	rs_1384496494	4 SubmittersRCV000856851 RCV001526626 RCV005092540
NM_004380.3(CREBBP):c.997G>T (p.Gly333Ter)	SNV Germline	Chr16:3793605	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394563851	rs_1596948165	1 SubmittersRCV000856849
NM_004380.3(CREBBP):c.613C>T (p.Gln205Ter)	SNV Unknown	Chr16:3850482	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394559969	rs_1597053504	1 SubmittersRCV000856845
NM_004380.3(CREBBP):c.376G>T (p.Gly126Ter)	SNV Germline	Chr16:3850719	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394561364	rs_1597054242	1 SubmittersRCV000856842
NM_004380.3(CREBBP):c.4890+1G>A	SNV Germline	Chr16:3731775	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations CREBBP-related disorder	No Assertion Criteria Provided	CA394559496	rs_1596793242	2 SubmittersRCV000856922 RCV004726706
NM_004380.3(CREBBP):c.3914+1G>A	SNV Germline	Chr16:3745276	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394566709	rs_1555475352	1 SubmittersRCV000856869
NM_004380.3(CREBBP):c.3779+1G>T	SNV Germline	Chr16:3751725	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations CREBBP-related disorder Rubinstein-Taybi syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA394567957	rs_587783483	4 SubmittersRCV000856913 RCV003413671 RCV002536209 RCV004721656
NM_004380.3(CREBBP):c.3610-1G>C	SNV Germline	Chr16:3757377	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394568525	rs_1596852670	1 SubmittersRCV000856905
NM_004380.3(CREBBP):c.3610-2A>G	SNV Unknown	Chr16:3757378	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394568528	rs_1596852674	1 SubmittersRCV000856906
NM_004380.3(CREBBP):c.3060+1G>T	SNV Germline	Chr16:3769173	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394549562	rs_1596882004	1 SubmittersRCV000856863
NM_004380.3(CREBBP):c.2159-1G>T	SNV Unknown	Chr16:3774694	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394553441	rs_1596897799	1 SubmittersRCV000856899
NM_004380.3(CREBBP):c.1941+2T>C	SNV Unknown	Chr16:3778698	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394555073	rs_1596909656	1 SubmittersRCV000856898
NM_004380.3(CREBBP):c.1824-1G>A	SNV Unknown	Chr16:3778818	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394556108	rs_1596910004	1 SubmittersRCV000856896
NM_004380.3(CREBBP):c.1573+1G>A	SNV Unknown	Chr16:3782683	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394557104	rs_1596920360	1 SubmittersRCV000856893
NM_004380.3(CREBBP):c.1216+2T>A	SNV Unknown	Chr16:3793384	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394562029	rs_1596947522	1 SubmittersRCV000856889
NM_004380.3(CREBBP):c.3982+3A>T	SNV Unknown	Chr16:3744891	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA915949080	rs_1596823180	1 SubmittersRCV000989508
NM_004380.3(CREBBP):c.283G>A (p.Val95Met)	SNV Germline	Chr16:3850812	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7870703	rs_756802946	5 SubmittersRCV000989513 RCV001655658 RCV002550613
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met)	SNV Germline	Chr22:41160675	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Colorectal cancer Menke-Hennekam syndrome 2 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Criteria Provided Conflicting Classifications	CA411696396	rs_143660871	3 SubmittersRCV000990452 RCV003638728 RCV004726762
NM_001429.4(EP300):c.3749G>A (p.Cys1250Tyr)	SNV Unknown	Chr22:41164073	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA411697816	rs_1601629319	1 SubmittersRCV000990454
NM_001429.4(EP300):c.4026G>A (p.Arg1342=)	SNV Germline	Chr22:41168721	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases Rubinstein-Taybi syndrome due to EP300 haploinsufficiency EP300-related disorder Condition: not provided Intellectual disability	Criteria Provided Conflicting Classifications	CA10253326	rs_146119145	6 SubmittersRCV000990455 RCV003346243 RCV003638729 RCV003906125 RCV004584843 RCV005626282
NM_004380.3(CREBBP):c.6056G>T (p.Gly2019Val)	SNV Germline	Chr16:3728991	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Conflicting Classifications	CA7869188	rs_771420935	3 SubmittersRCV000996194 RCV003758953 RCV005021307
NM_004380.3(CREBBP):c.4492C>T (p.Arg1498Ter)	SNV Germline	Chr16:3736718	Pathogenic	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA394563638	rs_2052070776	2 SubmittersRCV001055503 RCV005601672
NM_004380.3(CREBBP):c.5186G>C (p.Cys1729Ser)	SNV Germline	Chr16:3729861	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394557784	rs_2051863859	1 SubmittersRCV001089539
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met)	SNV Germline	Chr16:3770893	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA394551680	rs_542970560	3 SubmittersRCV001197022 RCV002561049 RCV005865467
NM_004380.3(CREBBP):c.2505G>T (p.Met835Ile)	SNV Germline	Chr16:3770945	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA7870093	rs_759041100	4 SubmittersRCV001197473 RCV002480647 RCV005641979 RCV005437018
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr)	SNV Germline	Chr16:3773794	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA394552855	rs_750178517	3 SubmittersRCV001198921 RCV002480650 RCV002560261
NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp)	SNV Germline	Chr16:3879855	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA394567769	rs_1211983012	2 SubmittersRCV001198521 RCV003759032
NM_004380.3(CREBBP):c.1823T>C (p.Leu608Pro)	SNV Unknown	Chr16:3780732	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394556274	rs_2053254528	1 SubmittersRCV001249727
NM_004380.3(CREBBP):c.5357G>A (p.Arg1786His)	SNV Germline	Chr16:3729690	Pathogenic/Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA276972266	rs_988251457	2 SubmittersRCV001249612 RCV001847212
NM_004380.3(CREBBP):c.4262G>T (p.Cys1421Phe)	SNV Germline	Chr16:3739596	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394564713	rs_200616542	1 SubmittersRCV001249613
NM_004380.3(CREBBP):c.3779+1G>C	SNV Germline	Chr16:3751725	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394567958	rs_587783483	2 SubmittersRCV001252207
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg)	SNV Germline	Chr16:3731206	Pathogenic/Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA394558036	rs_2051906390	3 SubmittersRCV001253321 RCV003223712
NM_004380.3(CREBBP):c.1977C>A (p.Tyr659Ter)	SNV Unknown	Chr16:3778147	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394554816	rs_2053190428	1 SubmittersRCV001253817
NM_001429.4(EP300):c.1781C>T (p.Thr594Met)	SNV Germline	Chr22:41140160	Conflicting classifications of pathogenicity	Multicystic kidney dysplasia Rubinstein-Taybi syndrome due to CREBBP mutations Colorectal cancer Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Menke-Hennekam syndrome 2 EP300-related disorder Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Criteria Provided Conflicting Classifications	CA10252632	rs_750740148	4 SubmittersRCV001254709 RCV002485996 RCV003405464 RCV002570571
NM_004380.3(CREBBP):c.6250C>T (p.Gln2084Ter)	SNV Germline	Chr16:3728797	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA394553802	rs_2051825168	2 SubmittersRCV001265550
NM_004380.3(CREBBP):c.5345C>T (p.Ala1782Val)	SNV Germline	Chr16:3729702	Pathogenic/Likely pathogenic	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA394557089	rs_2051858361	4 SubmittersRCV001268568 RCV005225341
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met)	SNV Germline	Chr16:3770596	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome Inborn genetic diseases CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7870022	rs_369930675	5 SubmittersRCV001293919 RCV002486106 RCV002538429 RCV004609724 RCV003393959
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr)	SNV Germline	Chr16:3727863	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7868939	rs_759047530	4 SubmittersRCV001332437 RCV002476549 RCV003759046 RCV005809544
NM_004380.3(CREBBP):c.69G>A (p.Ser23=)	SNV Germline	Chr16:3879848	Conflicting classifications of pathogenicity	Tip-toe gait Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7870761	rs_766095612	3 SubmittersRCV001352939 RCV002504567 RCV003771031
NM_001429.4(EP300):c.695G>C (p.Gly232Ala)	SNV Germline	Chr22:41117787	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Colorectal cancer Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Menke-Hennekam syndrome 2 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency EP300-related disorder	Criteria Provided Conflicting Classifications	CA411681627	rs_1261612920	4 SubmittersRCV001355626 RCV002493823 RCV002547613 RCV003908543
NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe)	SNV Germline	Chr16:3731304	Likely pathogenic	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA394558449	rs_2151316542	2 SubmittersRCV001377314 RCV002504629
NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu)	SNV Germline	Chr16:3728208	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7868985	rs_781438241	3 SubmittersRCV001420558 RCV002554090 RCV004743472
NM_004380.3(CREBBP):c.3893A>G (p.Tyr1298Cys)	SNV Germline	Chr16:3745298	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA394566762	rs_773159964	2 SubmittersRCV001420511 RCV006467058
NM_004380.3(CREBBP):c.6388C>T (p.Gln2130Ter)	SNV Unknown	Chr16:3728659	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394553500	rs_2151304304	1 SubmittersRCV001563617
NM_004380.3(CREBBP):c.5836C>G (p.Pro1946Ala)	SNV Germline	Chr16:3729211	Conflicting classifications of pathogenicity	Condition: not provided Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations CREBBP-related disorder Inborn genetic diseases Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA394555303	rs_1321085895	5 SubmittersRCV001578063 RCV002495924 RCV004743553 RCV002359190 RCV002568505
NM_004380.3(CREBBP):c.3061-11T>C	SNV Germline	Chr16:3767920	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7869930	rs_762277548	2 SubmittersRCV001594162 RCV005014599
NM_004380.3(CREBBP):c.1942-5T>C	SNV Germline	Chr16:3778187	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA720710965	rs_1482514446	4 SubmittersRCV001664956 RCV003759062 RCV004743560 RCV005005984
NM_004380.3(CREBBP):c.3233C>T (p.Ser1078Leu)	SNV Germline	Chr16:3767737	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA277006799	rs_942848385	4 SubmittersRCV001658967 RCV002539623 RCV002488449 RCV005540476
NM_004380.3(CREBBP):c.5930T>A (p.Ile1977Asn)	SNV Germline	Chr16:3729117	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7869224	rs_754429038	4 SubmittersRCV001708176 RCV003759063 RCV004743562 RCV005014617
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile)	SNV Germline	Chr16:3770852	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Inborn genetic diseases CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7870068	rs_771016864	6 SubmittersRCV001756480 RCV001882821 RCV002496068 RCV002539869 RCV003931312
NM_004380.3(CREBBP):c.6324C>G (p.Tyr2108Ter)	SNV Germline	Chr16:3728723	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA394553635	rs_199821421	2 SubmittersRCV001754541 RCV006458648
NM_004380.3(CREBBP):c.4133G>A (p.Arg1378Gln)	SNV Germline	Chr16:3740399	Pathogenic	Neurodevelopmental disorder Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA394565195	rs_121434626	2 SubmittersRCV001780057 RCV005860255
NM_004380.3(CREBBP):c.2141G>A (p.Arg714His)	SNV Germline	Chr16:3777630	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Conflicting Classifications	CA7870248	rs_141098117	4 SubmittersRCV001787528 RCV003594157 RCV005014665
NM_004380.3(CREBBP):c.2303G>A (p.Arg768Gln)	SNV Germline	Chr16:3773911	Conflicting classifications of pathogenicity	Condition: not provided Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7870165	rs_754386072	3 SubmittersRCV001806591 RCV002478034 RCV003759076
NM_004380.3(CREBBP):c.3370-2A>G	SNV Germline	Chr16:3758050	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA276997994	rs_866703165	1 SubmittersRCV001807959
NM_004380.3(CREBBP):c.3940A>T (p.Lys1314Ter)	SNV Germline	Chr16:3744936	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394566640	rs_2151354104	1 SubmittersRCV001814883
NM_004380.3(CREBBP):c.7222A>G (p.Met2408Val)	SNV Germline	Chr16:3727825	Conflicting classifications of pathogenicity	not specified CREBBP-related disorder Inborn genetic diseases Condition: not provided Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7868932	rs_372005280	6 SubmittersRCV001819627 RCV003416476 RCV005809624 RCV004598151 RCV005095256 RCV005014677
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala)	SNV Germline	Chr16:3729253	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7869245	rs_749249146	4 SubmittersRCV002542829 RCV001839234 RCV003976232 RCV002478074
NM_004380.3(CREBBP):c.4991G>T (p.Arg1664Leu)	SNV Germline	Chr16:3731373	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394558743	rs_1596791996	1 SubmittersRCV001842251
NM_004380.3(CREBBP):c.5796G>A (p.Thr1932=)	SNV Germline	Chr16:3729251	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Condition: not provided CREBBP-related disorder Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Conflicting Classifications	CA7869243	rs_755609198	4 SubmittersRCV001943718 RCV003407954 RCV004743654 RCV005016849
NM_001429.4(EP300):c.454G>A (p.Gly152Ser)	SNV Germline	Chr22:41117546	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Colorectal cancer Menke-Hennekam syndrome 2 Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases EP300-related disorder	Criteria Provided Conflicting Classifications	CA10252254	rs_142758675	4 SubmittersRCV002545689 RCV002489936 RCV002545418 RCV003913423
NM_004380.3(CREBBP):c.1930G>C (p.Ala644Pro)	SNV Germline	Chr16:3778711	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394555132	rs_2141237064	1 SubmittersRCV002077368
NM_004380.3(CREBBP):c.3832G>C (p.Glu1278Gln)	SNV Germline	Chr16:3749631	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394567311	rs_267606752	1 SubmittersRCV002226836
NM_004380.3(CREBBP):c.5710C>T (p.Gln1904Ter)	SNV Germline	Chr16:3729337	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394555696	rs_2151308835	1 SubmittersRCV002226990
NM_004380.3(CREBBP):c.4305T>G (p.Asp1435Glu)	SNV Germline	Chr16:3738648	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394564554	rs_928061320	1 SubmittersRCV002226996
NM_004380.3(CREBBP):c.5169C>G (p.Cys1723Trp)	SNV Germline	Chr16:3731195	Pathogenic/Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA394557997	rs_146718571	2 SubmittersRCV002249840 RCV005052854
NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser)	SNV Germline	Chr16:3757933	Conflicting classifications of pathogenicity	not specified Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 CREBBP-related disorder Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869804	rs_148166625	4 SubmittersRCV002247112 RCV002481054 RCV003896086 RCV005095839
NM_004380.3(CREBBP):c.3983-1G>C	SNV Germline	Chr16:3740550	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394565527	rs_2151341377	1 SubmittersRCV002250932
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=)	SNV Germline	Chr16:3736791	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869519	rs_370689343	2 SubmittersRCV002266677 RCV003096046
NM_004380.3(CREBBP):c.6137C>T (p.Ala2046Val)	SNV Germline	Chr16:3728910	Conflicting classifications of pathogenicity	Inborn genetic diseases CREBBP-related disorder Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7869177	rs_753688167	4 SubmittersRCV002360360 RCV003408247 RCV003594225 RCV005019187
NM_004380.3(CREBBP):c.235G>A (p.Gly79Ser)	SNV Germline	Chr16:3850860	Conflicting classifications of pathogenicity	Inborn genetic diseases Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870719	rs_752992134	3 SubmittersRCV002448524 RCV003759728 RCV005008582
NM_004380.3(CREBBP):c.2495C>A (p.Pro832His)	SNV Germline	Chr16:3770955	Conflicting classifications of pathogenicity	Inborn genetic diseases CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870096	rs_755952440	3 SubmittersRCV002430992 RCV004744365 RCV005019202
NM_004380.3(CREBBP):c.2810C>T (p.Pro937Leu)	SNV Germline	Chr16:3770640	Conflicting classifications of pathogenicity	Inborn genetic diseases Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7870037	rs_766849648	3 SubmittersRCV002441702 RCV005019204 RCV005098299
NM_004380.3(CREBBP):c.3749C>A (p.Thr1250Asn)	SNV Germline	Chr16:3751756	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA394568026	rs_1567282634	2 SubmittersRCV002471593 RCV006471431
NM_004380.3(CREBBP):c.4251C>G (p.Tyr1417Ter)	SNV Germline	Chr16:3739607	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394564738	rs_61731412	1 SubmittersRCV002471646
NM_004380.3(CREBBP):c.5683C>T (p.Gln1895Ter)	SNV Germline	Chr16:3729364	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394555756	rs_2151309006	1 SubmittersRCV002470191
NM_004380.3(CREBBP):c.5264G>A (p.Ser1755Asn)	SNV Germline	Chr16:3729783	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Conflicting Classifications	CA7869302	rs_141069312	3 SubmittersRCV003076657 RCV003410062 RCV005019610
NM_004380.3(CREBBP):c.3307C>T (p.Arg1103Ter)	SNV Germline	Chr16:3758916	Pathogenic	Rubinstein-Taybi syndrome Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA394569552	rs_2151385663	4 SubmittersRCV003064314 RCV003320911 RCV005869996
NM_004380.3(CREBBP):c.175C>T (p.Leu59Phe)	SNV Germline	Chr16:3850920	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Conflicting Classifications	CA7870728	rs_747862621	2 SubmittersRCV003086185 RCV005019659
NM_004380.3(CREBBP):c.4795A>G (p.Ser1599Gly)	SNV Germline	Chr16:3731871	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Conflicting Classifications	CA7869422	rs_766942126	2 SubmittersRCV003069068 RCV005019645
NM_004380.3(CREBBP):c.7195C>T (p.His2399Tyr)	SNV Germline	Chr16:3727852	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Inborn genetic diseases CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7868936	rs_369215519	4 SubmittersRCV002588325 RCV004978617 RCV003963661 RCV005021583
NM_004380.3(CREBBP):c.3250A>T (p.Ile1084Phe)	SNV Germline	Chr16:3767720	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7869901	rs_751237748	2 SubmittersRCV002624063 RCV005021632
NM_004380.3(CREBBP):c.288G>A (p.Gln96=)	SNV Germline	Chr16:3850807	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA7870702	rs_370300481	4 SubmittersRCV002628969 RCV004744624 RCV005021637 RCV005930628
NM_004380.3(CREBBP):c.1725C>T (p.Ser575=)	SNV Germline	Chr16:3780830	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Conflicting Classifications	CA7870369	rs_770666980	2 SubmittersRCV002633934 RCV005021647
NM_004380.3(CREBBP):c.2264G>A (p.Ser755Asn)	SNV Germline	Chr16:3774588	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870204	rs_376103794	2 SubmittersRCV002586171 RCV005019239
NM_004380.3(CREBBP):c.2347A>G (p.Met783Val)	SNV Germline	Chr16:3773867	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870159	rs_144200709	2 SubmittersRCV002690226 RCV005019332
NM_004380.3(CREBBP):c.6110G>A (p.Arg2037Lys)	SNV Germline	Chr16:3728937	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA394554202	rs_1481703137	3 SubmittersRCV002770977 RCV004725377 RCV005019397
NM_004380.3(CREBBP):c.2284-5C>T	SNV Germline	Chr16:3773935	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870174	rs_763032094	2 SubmittersRCV002751551 RCV005019372
NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)	SNV Germline	Chr16:3727840	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA394550308	rs_1379999620	2 SubmittersRCV002871300 RCV005019417
NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)	SNV Germline	Chr16:3728315	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations CREBBP-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7869014	rs_201356785	6 SubmittersRCV002913825 RCV003455600 RCV004744469 RCV005425008 RCV004973702
NM_004380.3(CREBBP):c.6829C>T (p.Pro2277Ser)	SNV Germline	Chr16:3728218	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Conflicting Classifications	CA7868990	rs_771721926	2 SubmittersRCV002904786 RCV005019469
NM_004380.3(CREBBP):c.2537C>T (p.Pro846Leu)	SNV Germline	Chr16:3770913	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870089	rs_371282657	3 SubmittersRCV002932216 RCV004744475 RCV005019461
NM_004380.3(CREBBP):c.964G>A (p.Val322Met)	SNV Germline	Chr16:3810614	Conflicting classifications of pathogenicity	Inborn genetic diseases CREBBP-related disorder Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome not specified	Criteria Provided Conflicting Classifications	CA277007739	rs_587778212	5 SubmittersRCV002686846 RCV003420409 RCV005011103 RCV005099468 RCV006262655
NM_004380.3(CREBBP):c.6542A>G (p.Asn2181Ser)	SNV Germline	Chr16:3728505	Conflicting classifications of pathogenicity	Inborn genetic diseases Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7869084	rs_768978068	2 SubmittersRCV002673497 RCV005021678
NM_001429.4(EP300):c.772A>G (p.Thr258Ala)	SNV Germline	Chr22:41125906	Conflicting classifications of pathogenicity	Inborn genetic diseases Rubinstein-Taybi syndrome due to EP300 haploinsufficiency EP300-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 2 Colorectal cancer Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	Criteria Provided Conflicting Classifications	CA10252353	rs_201804130	4 SubmittersRCV002738615 RCV003526228 RCV003918996 RCV005399231
NM_001429.4(EP300):c.2893C>T (p.Gln965Ter)	SNV Germline	Chr22:41151908	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA411692884	rs_2059047949	1 SubmittersRCV003127285
NM_004380.3(CREBBP):c.3517C>T (p.Arg1173Ter)	SNV Germline	Chr16:3757901	Pathogenic	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA394568751	rs_2151383341	3 SubmittersRCV003136570 RCV004594680
NM_004380.3(CREBBP):c.2701C>T (p.Pro901Ser)	SNV Germline	Chr16:3770749	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7870046	rs_148286133	2 SubmittersRCV003148473 RCV006473730
NM_004380.3(CREBBP):c.6169C>T (p.Gln2057Ter)	SNV Germline	Chr16:3728878	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA394553982	rs_1467929364	2 SubmittersRCV003148514
NM_004380.3(CREBBP):c.2113+1G>C	SNV Unknown	Chr16:3778010	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394554229	rs_2141232415	1 SubmittersRCV003314281
NM_004380.3(CREBBP):c.1094A>C (p.His365Pro)	SNV Unknown	Chr16:3793508	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394563185	rs_2548464208	1 SubmittersRCV003315205
NM_004380.3(CREBBP):c.1824-1G>C	SNV Germline	Chr16:3778818	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Thyroid cancer, nonmedullary, 1	Criteria Provided Single Submitter	CA394556107	rs_1596910004	2 SubmittersRCV003388801 RCV005932731
NM_004380.3(CREBBP):c.503C>T (p.Thr168Met)	SNV Germline	Chr16:3850592	Conflicting classifications of pathogenicity	not specified Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870660	rs_772863270	3 SubmittersRCV003404954 RCV003778351 RCV005012943
NM_004380.3(CREBBP):c.463G>A (p.Ala155Thr)	SNV Germline	Chr16:3850632	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Conflicting Classifications	CA7870669	rs_780333650	3 SubmittersRCV003417617 RCV003778394 RCV005012952
NM_004380.3(CREBBP):c.2159-15T>C	SNV Germline	Chr16:3774708	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA276971192	rs_979097895	2 SubmittersRCV003595303 RCV005014748
NM_004380.3(CREBBP):c.1735A>G (p.Thr579Ala)	SNV Germline	Chr16:3780820	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7870367	rs_370489037	4 SubmittersRCV003595588 RCV004741638 RCV005013030 RCV006343038
NM_004380.3(CREBBP):c.3214T>G (p.Ser1072Ala)	SNV Germline	Chr16:3767756	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA277006808	rs_947598568	2 SubmittersRCV003593410 RCV005014783
NM_004380.3(CREBBP):c.2788C>T (p.Pro930Ser)	SNV Germline	Chr16:3770662	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder Inborn genetic diseases Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA394550767	rs_1464234725	4 SubmittersRCV003593520 RCV004741641 RCV004980883 RCV005014790
NM_004380.3(CREBBP):c.4894T>G (p.Phe1632Val)	SNV Germline	Chr16:3731470	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Conflicting Classifications	CA394559126	rs_587783501	3 SubmittersRCV005235725 RCV003760060 RCV005256467
NM_004380.3(CREBBP):c.5910G>T (p.Gln1970His)	SNV Germline	Chr16:3729137	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7869230	rs_749069343	5 SubmittersRCV003760214 RCV004741686 RCV005014901 RCV005812192 RCV006264123
NM_004380.3(CREBBP):c.4807G>A (p.Ala1603Thr)	SNV Germline	Chr16:3731859	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Conflicting Classifications	CA7869420	rs_375557093	4 SubmittersRCV003760247 RCV004741690 RCV005014906 RCV005439162
NM_004380.3(CREBBP):c.2307G>A (p.Met769Ile)	SNV Germline	Chr16:3773907	Conflicting classifications of pathogenicity	CREBBP-related disorder Condition: not provided Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7870164	rs_778251901	4 SubmittersRCV003904398 RCV004767510 RCV005015098 RCV005101680
NM_004380.3(CREBBP):c.6479C>T (p.Ala2160Val)	SNV Germline	Chr16:3728568	Conflicting classifications of pathogenicity	CREBBP-related disorder Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869098	rs_779980394	3 SubmittersRCV003899317 RCV005015088 RCV005064717
NM_004380.3(CREBBP):c.1824-1G>T	SNV Germline	Chr16:3778818	Pathogenic	CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Thyroid cancer, nonmedullary, 1	Criteria Provided Single Submitter	CA394556105	rs_1596910004	3 SubmittersRCV003911583 RCV005603860 RCV005936801
NM_004380.3(CREBBP):c.4471C>A (p.Gln1491Lys)	SNV Germline	Chr16:3736739	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA276980080	rs_201156486	1 SubmittersRCV003990437
NM_004380.3(CREBBP):c.901C>T (p.Gln301Ter)	SNV Germline	Chr16:3810677	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter		rs_2548493542	1 SubmittersRCV004595831
NM_004380.3(CREBBP):c.2689C>T (p.Gln897Ter)	SNV Germline	Chr16:3770761	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter			1 SubmittersRCV004596023
NM_004380.3(CREBBP):c.4508A>T (p.Tyr1503Phe)	SNV Germline/somatic	Chr16:3736702	Likely pathogenic	Neoplasm Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter			2 SubmittersRCV004666591 RCV004720548
NM_004380.3(CREBBP):c.4103C>T (p.Thr1368Met)	SNV Germline	Chr16:3740429	Conflicting classifications of pathogenicity	CREBBP-related disorder Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications			3 SubmittersRCV004742736 RCV005103686 RCV005017236
NM_004380.3(CREBBP):c.2554C>G (p.Pro852Ala)	SNV Germline	Chr16:3770896	Conflicting classifications of pathogenicity	CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome not specified	Criteria Provided Conflicting Classifications			4 SubmittersRCV004743151 RCV005017243 RCV005103753 RCV005433531
NM_004380.3(CREBBP):c.5629G>A (p.Val1877Met)	SNV Germline	Chr16:3729418	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV004764657 RCV005059912
NM_004380.3(CREBBP):c.1301A>T (p.Lys434Ile)	SNV Germline	Chr16:3792010	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter			1 SubmittersRCV004795264
NM_004380.3(CREBBP):c.3836+5G>A	SNV Germline	Chr16:3749622	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV004795459
NM_004380.3(CREBBP):c.3649C>T (p.Gln1217Ter)	SNV Germline	Chr16:3757337	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter			1 SubmittersRCV004795718
NM_004380.3(CREBBP):c.5997C>T (p.Ser1999=)	SNV Germline	Chr16:3729050	Conflicting classifications of pathogenicity	Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005015385 RCV005112636
NM_004380.3(CREBBP):c.5992G>T (p.Val1998Leu)	SNV Germline	Chr16:3729055	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005015386 RCV005112637
NM_004380.3(CREBBP):c.5197T>G (p.Tyr1733Asp)	SNV Germline	Chr16:3729850	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter			1 SubmittersRCV005236983
NM_004380.3(CREBBP):c.2284-2A>G	SNV Germline	Chr16:3773932	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter			1 SubmittersRCV005254254
NM_004380.3(CREBBP):c.3610-1G>T	SNV Germline	Chr16:3757377	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter			1 SubmittersRCV005882426
NM_004380.3(CREBBP):c.85+1G>C	SNV Germline	Chr16:3879831	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter			1 SubmittersRCV006257827
NM_004380.3(CREBBP):c.4154T>A (p.Met1385Lys)	SNV Germline	Chr16:3739704	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter			1 SubmittersRCV006269182

NM_004380.3(CREBBP):c.406C>T (p.Gln136Ter)

SNV
Germline

Chr16:3850689

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA254809

rs_121434624

2 SubmittersRCV000010035

NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter)

SNV
Germline

Chr16:3793533

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA254811

rs_121434625

2 SubmittersRCV000010036

NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro)

SNV
Germline

Chr16:3740399

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA254813

rs_121434626

3 SubmittersRCV000010037 RCV005249986

NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)

SNV
Germline

Chr16:3757894

Pathogenic/Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA254814

rs_28937315

6 SubmittersRCV000010039 RCV004609293

NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)

SNV
Germline

Chr16:3749631

Pathogenic/Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided
Intellectual disability
Inborn genetic diseases
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations
Abnormality of the nervous system
CREBBP-related disorder
Rubinstein-Taybi syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA254815

rs_267606752

14 SubmittersRCV000010040 RCV000255660 RCV001260694 RCV001267080 RCV002496320 RCV001813970 RCV004742224 RCV006461131

NM_004380.3(CREBBP):c.3837-2A>T

SNV
Germline

Chr16:3745356

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394566898

rs_1567277287

1 SubmittersRCV000010041

NM_004380.3(CREBBP):c.1149G>A (p.Pro383=)

SNV
Germline

Chr16:3793453

Conflicting classifications of pathogenicity

not specified
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome
Condition: not provided
Inborn genetic diseases
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA148108

rs_61759495

7 SubmittersRCV000081028 RCV000145712 RCV000872923 RCV001610371 RCV002311602 RCV003974969

NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val)

SNV
Germline

Chr16:3782888

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations
Inborn genetic diseases
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA222672

rs_369459749

6 SubmittersRCV000081029 RCV002265601 RCV002381401 RCV002514423 RCV004742248

NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile)

SNV
Germline

Chr16:3781229

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Rubinstein-Taybi syndrome
Inborn genetic diseases
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Conflicting Classifications

CA248673

rs_61753381

12 SubmittersRCV000081031 RCV000426201 RCV000550437 RCV002311603 RCV005628137

NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg)

SNV
Germline

Chr16:3773902

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations
Inborn genetic diseases
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA222683

rs_147805823

6 SubmittersRCV000081037 RCV001854429 RCV002477232 RCV002514426 RCV003974970

NM_004380.3(CREBBP):c.3982+1G>A

SNV
Germline

Chr16:3744893

Pathogenic

Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Multiple Submitters
No Conflicts

CA222694

rs_398124145

2 SubmittersRCV000081051 RCV000499536

NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)

SNV
Germline/somatic

Chr16:3738617

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome
Neoplasm
Medulloblastoma WNT activated

Criteria Provided
Conflicting Classifications

CA222695

rs_398124146

6 SubmittersRCV000081052 RCV000700948 RCV002228327 RCV004668773 RCV006253787

NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)

SNV
Germline

Chr16:3729328

Conflicting classifications of pathogenicity

not specified
Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided
Rubinstein-Taybi syndrome
Inborn genetic diseases
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA248675

rs_199990883

13 SubmittersRCV000081061 RCV000145767 RCV000224624 RCV001085724 RCV002311611 RCV003982877

NM_004380.3(CREBBP):c.6956A>T (p.His2319Leu)

SNV
Germline

Chr16:3728091

Conflicting classifications of pathogenicity

not specified
Rubinstein-Taybi syndrome
CREBBP-related disorder
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA158195

rs_587778215

4 SubmittersRCV000120606 RCV002515834 RCV003415910 RCV005016410

NM_004380.3(CREBBP):c.6658G>A (p.Gly2220Ser)

SNV
Germline

Chr16:3728389

Conflicting classifications of pathogenicity

not specified
Rubinstein-Taybi syndrome
CREBBP-related disorder
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA158199

rs_141184151

4 SubmittersRCV000120608 RCV002514628 RCV004742264 RCV005016411

NM_004380.3(CREBBP):c.1514C>T (p.Pro505Leu)

SNV
Germline

Chr16:3782743

Conflicting classifications of pathogenicity

not specified
Rubinstein-Taybi syndrome
CREBBP-related disorder
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA158201

rs_369550568

4 SubmittersRCV000120609 RCV002515836 RCV003952591 RCV005016412

NM_004380.3(CREBBP):c.7040C>T (p.Ala2347Val)

SNV
Germline

Chr16:3728007

Conflicting classifications of pathogenicity

not specified
Rubinstein-Taybi syndrome
Hearing impairment
Inborn genetic diseases
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA171806

rs_182347573

5 SubmittersRCV000145780 RCV003593919 RCV005625317 RCV004975296 RCV005016465

NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu)

SNV
Germline

Chr16:3728598

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome
Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA271440

rs_587783512

5 SubmittersRCV000145778 RCV003758698 RCV003456371 RCV002492531 RCV003390831

NM_004380.3(CREBBP):c.6088C>T (p.Gln2030Ter)

SNV
Germline

Chr16:3728959

Pathogenic/Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Multiple Submitters
No Conflicts

CA271436

rs_587783510

2 SubmittersRCV000145775

NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter)

SNV
Germline

Chr16:3729226

Pathogenic/Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA271429

rs_587783505

2 SubmittersRCV000145769 RCV004796043

NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro)

SNV
Germline

Chr16:3729247

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided
Rubinstein-Taybi syndrome
Tip-toe gait
Inborn genetic diseases
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA243769

rs_587783504

8 SubmittersRCV000145768 RCV000177560 RCV001087896 RCV002221200 RCV002354332 RCV003935243

NM_004380.3(CREBBP):c.5050T>C (p.Ser1684Pro)

SNV
Germline

Chr16:3731314

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271427

rs_587783503

1 SubmittersRCV000145765

NM_004380.3(CREBBP):c.4508A>G (p.Tyr1503Cys)

SNV
Germline

Chr16:3736702

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271419

rs_587783497

1 SubmittersRCV000145757

NM_004380.3(CREBBP):c.4445A>G (p.Tyr1482Cys)

SNV
Germline

Chr16:3736765

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271417

rs_587783496

1 SubmittersRCV000145756

NM_004380.3(CREBBP):c.4444T>G (p.Tyr1482Asp)

SNV
Germline

Chr16:3736766

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271415

rs_587783495

1 SubmittersRCV000145755

NM_004380.3(CREBBP):c.4398T>A (p.Tyr1466Ter)

SNV
Germline

Chr16:3736812

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271413

rs_147688139

1 SubmittersRCV000145754

NM_004380.3(CREBBP):c.4376A>G (p.Glu1459Gly)

SNV
Germline

Chr16:3738577

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271411

rs_587783494

1 SubmittersRCV000145753

NM_004380.3(CREBBP):c.4281-11C>G

SNV
Germline

Chr16:3738683

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271410

rs_587783493

1 SubmittersRCV000145752

NM_004380.3(CREBBP):c.4226T>C (p.Phe1409Ser)

SNV
Germline

Chr16:3739632

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271408

rs_587783492

1 SubmittersRCV000145750

NM_004380.3(CREBBP):c.4133+1G>A

SNV
Germline

Chr16:3740398

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271407

rs_587783491

1 SubmittersRCV000145749

NM_004380.3(CREBBP):c.4078C>T (p.Arg1360Ter)

SNV
Germline

Chr16:3740454

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA271405

rs_587783490

3 SubmittersRCV000145748 RCV002464124

NM_004380.3(CREBBP):c.4045C>T (p.Gln1349Ter)

SNV
Germline

Chr16:3740487

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271403

rs_587783489

1 SubmittersRCV000145747

NM_004380.3(CREBBP):c.4022G>C (p.Arg1341Pro)

SNV
Germline

Chr16:3740510

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271401

rs_587783488

1 SubmittersRCV000145746

NM_004380.3(CREBBP):c.3983-2A>G

SNV
Germline

Chr16:3740551

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271398

rs_587783486

1 SubmittersRCV000145744

NM_004380.3(CREBBP):c.3914+3G>T

SNV
Germline

Chr16:3745274

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Multiple Submitters
No Conflicts

CA271397

rs_587783485

2 SubmittersRCV000145743

NM_004380.3(CREBBP):c.3836+1G>A

SNV
Germline

Chr16:3749626

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome
Condition: not provided
Malignant tumor of urinary bladder

Criteria Provided
Multiple Submitters
No Conflicts

CA271396

rs_200782888

6 SubmittersRCV000145741 RCV001390957 RCV004589638 RCV005888121

NM_004380.3(CREBBP):c.3779+1G>A

SNV
Germline

Chr16:3751725

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided
Intellectual disability
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome
Cervical cancer

Criteria Provided
Multiple Submitters
No Conflicts

CA271393

rs_587783483

11 SubmittersRCV000145739 RCV000255068 RCV001260696 RCV002498664 RCV005089678 RCV005888120

NM_004380.3(CREBBP):c.3613G>T (p.Glu1205Ter)

SNV
Germline

Chr16:3757373

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271391

rs_587783482

1 SubmittersRCV000145738

NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys)

SNV
Germline

Chr16:3757918

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA271389

rs_587783481

4 SubmittersRCV000145737 RCV002228523 RCV003895028

NM_004380.3(CREBBP):c.3369+1G>T

SNV
Germline

Chr16:3758853

Pathogenic/Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA271388

rs_587783480

3 SubmittersRCV000145736 RCV001268616

NM_004380.3(CREBBP):c.3310C>T (p.Gln1104Ter)

SNV
Germline

Chr16:3758913

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271386

rs_587783479

1 SubmittersRCV000145735

NM_004380.3(CREBBP):c.2791C>T (p.Gln931Ter)

SNV
Germline

Chr16:3770659

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271379

rs_587783475

1 SubmittersRCV000145730

NM_004380.3(CREBBP):c.2679G>A (p.Ser893=)

SNV
Germline

Chr16:3770771

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome
not specified

Criteria Provided
Conflicting Classifications

CA271377

rs_587783474

3 SubmittersRCV000145727 RCV003593917 RCV005434655

NM_004380.3(CREBBP):c.2535C>A (p.Cys845Ter)

SNV
Germline

Chr16:3770915

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271372

rs_587783471

1 SubmittersRCV000145724

NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter)

SNV
Germline

Chr16:3792041

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA271362

rs_587783464

5 SubmittersRCV000145716 RCV001824287

NM_004380.3(CREBBP):c.1257G>A (p.Trp419Ter)

SNV
Germline

Chr16:3792054

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271360

rs_587783463

1 SubmittersRCV000145715

NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter)

SNV
Germline

Chr16:3793446

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271358

rs_587783461

2 SubmittersRCV000145713

NM_004380.3(CREBBP):c.1063C>T (p.Gln355Ter)

SNV
Germline

Chr16:3793539

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA271356

rs_587783460

2 SubmittersRCV000145711 RCV004589637

NM_004380.3(CREBBP):c.953C>A (p.Ser318Ter)

SNV
Germline

Chr16:3810625

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA271443

rs_587783516

2 SubmittersRCV000145784 RCV005089681

NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter)

SNV
Germline

Chr16:3850497

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA271434

rs_587783509

3 SubmittersRCV000145774 RCV004724925

NM_004380.3(CREBBP):c.316C>T (p.Gln106Ter)

SNV
Germline

Chr16:3850779

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271384

rs_587783478

1 SubmittersRCV000145734

NM_004380.3(CREBBP):c.286C>T (p.Gln96Ter)

SNV
Germline

Chr16:3850809

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271381

rs_587783476

1 SubmittersRCV000145732

NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser)

SNV
Germline

Chr16:3850931

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome
not specified

Criteria Provided
Conflicting Classifications

CA271365

rs_587783466

4 SubmittersRCV000145718 RCV002478406 RCV003764886 RCV005434654

NM_004380.3(CREBBP):c.86-2A>C

SNV
Germline

Chr16:3851011

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271442

rs_587783515

1 SubmittersRCV000145783

NM_004380.3(CREBBP):c.37A>G (p.Lys13Glu)

SNV
Germline

Chr16:3879880

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271394

rs_587783484

1 SubmittersRCV000145740

NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser)

SNV
Germline

Chr16:3780823

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations
Inborn genetic diseases
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA233869

rs_148023511

5 SubmittersRCV000153119 RCV000764070 RCV002316965 RCV003105799 RCV004742280

NM_004380.3(CREBBP):c.5843C>T (p.Pro1948Leu)

SNV
Germline

Chr16:3729204

Conflicting classifications of pathogenicity

Condition: not provided
CREBBP-related disorder
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA243767

rs_557611780

6 SubmittersRCV000177559 RCV003416090 RCV003593928 RCV004799188 RCV005016521

NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter)

SNV
Unknown

Chr22:41158483

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA275975

rs_565779970

1 SubmittersRCV000990451

NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)

SNV
Germline

Chr16:3729433

Pathogenic/Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided
Menke-Hennekam syndrome 1
Intellectual disability
Rubinstein-Taybi syndrome
CREBBP-related disorder
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Multiple Submitters
No Conflicts

CA276136

rs_797045037

8 SubmittersRCV000191076 RCV000523539 RCV000757968 RCV001260745 RCV002517032 RCV003422092 RCV003458352

NM_004380.3(CREBBP):c.5412C>A (p.His1804Gln)

SNV
Germline

Chr16:3729635

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA277274

rs_797045496

1 SubmittersRCV000194204

NM_004380.3(CREBBP):c.5027G>A (p.Trp1676Ter)

SNV
Germline

Chr16:3731337

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA277127

rs_797045495

1 SubmittersRCV000193359

NM_004380.3(CREBBP):c.4281G>T (p.Arg1427Ser)

SNV
Germline

Chr16:3738672

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA277444

rs_797045494

1 SubmittersRCV000195137

NM_004380.3(CREBBP):c.3490G>C (p.Ala1164Pro)

SNV
Germline

Chr16:3757928

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Kabuki-like syndrome

Criteria Provided
Single Submitter

CA277012

rs_797045492

2 SubmittersRCV000192723 RCV001261355

NM_004380.3(CREBBP):c.3436C>T (p.Gln1146Ter)

SNV
Germline

Chr16:3757982

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA277030

rs_797045489

1 SubmittersRCV000192840

NM_004380.3(CREBBP):c.86-1G>T

SNV
Germline

Chr16:3851010

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA277172

rs_11644721

1 SubmittersRCV000193581

NM_004380.3(CREBBP):c.2T>A (p.Met1Lys)

SNV
Germline

Chr16:3879915

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA277198

rs_797045487

1 SubmittersRCV000193780

NM_004380.3(CREBBP):c.5237G>T (p.Gly1746Val)

SNV
Germline

Chr16:3729810

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA357158

rs_869312714

1 SubmittersRCV000209852

NM_004380.3(CREBBP):c.4134-1G>T

SNV
Germline

Chr16:3739725

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA10602670

rs_886041048

1 SubmittersRCV000258851

NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly)

SNV
Germline

Chr16:3736771

Pathogenic/Likely pathogenic

Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Multiple Submitters
No Conflicts

CA10603272

rs_886041286

4 SubmittersRCV000334678 RCV000850544

NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter)

SNV
Germline

Chr16:3728806

Pathogenic/Likely pathogenic

Condition: not provided
Rare genetic intellectual disability
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Multiple Submitters
No Conflicts

CA10603392

rs_886041518

3 SubmittersRCV000261393 RCV001256995 RCV002250613

NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=)

SNV
Germline

Chr16:3728369

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA7869029

rs_750845399

5 SubmittersRCV000341039 RCV002487207 RCV002521902 RCV003939977

NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter)

SNV
Germline

Chr16:3728803

Pathogenic

Scoliosis
Global developmental delay
Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA16043513

rs_1057518789

3 SubmittersRCV000414795 RCV000760803 RCV003326423

NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys)

SNV
Germline

Chr16:3757288

Pathogenic/Likely pathogenic

Glaucoma
Thumb deformity
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16043514

rs_1057518844

2 SubmittersRCV000415361 RCV001198296 RCV005090685

NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His)

SNV
Germline

Chr16:3738616

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA16602826

rs_1057519884

1 SubmittersRCV004594056

NM_004380.3(CREBBP):c.5336T>C (p.Leu1779Pro)

SNV
Germline

Chr16:3729711

Pathogenic/Likely pathogenic

Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Multiple Submitters
No Conflicts

CA16620201

rs_1064796457

2 SubmittersRCV000483007 RCV005222963

NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter)

SNV
Germline

Chr16:3728723

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA394553636

rs_199821421

2 SubmittersRCV000497205 RCV000623929

NM_004380.3(CREBBP):c.3914+1G>T

SNV
Germline

Chr16:3745276

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394566710

rs_1555475352

1 SubmittersRCV000502986

NM_004380.3(CREBBP):c.1237C>T (p.Arg413Ter)

SNV
Germline

Chr16:3792074

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided
Menke-Hennekam syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA394560862

rs_1302427305

6 SubmittersRCV000501651 RCV000579110 RCV005869526

NM_004380.3(CREBBP):c.6275C>G (p.Ser2092Ter)

SNV
Germline

Chr16:3728772

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394553744

rs_1555471077

1 SubmittersRCV000503664

NM_004380.3(CREBBP):c.7125C>T (p.His2375=)

SNV
Germline

Chr16:3727922

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7868947

rs_746116315

3 SubmittersRCV000513559 RCV002490864 RCV002524961

NM_004380.3(CREBBP):c.508C>T (p.Gln170Ter)

SNV
Germline

Chr16:3850587

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394560816

rs_1555496560

1 SubmittersRCV000527062

NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val)

SNV
Germline

Chr16:3728976

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Inborn genetic diseases
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA7869187

rs_745551441

4 SubmittersRCV002231255 RCV002316527 RCV002497075 RCV003403260

NM_004380.3(CREBBP):c.1447C>T (p.Arg483Ter)

SNV
Germline

Chr16:3782810

Pathogenic

Condition: not provided
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Multiple Submitters
No Conflicts

CA394557681

rs_1555484797

3 SubmittersRCV001268046 RCV002231028 RCV003157633

NM_001429.4(EP300):c.3262-2A>G

SNV
Germline

Chr22:41157167

Pathogenic/Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
CHARGE syndrome

No Assertion Criteria Provided

CA411694508

rs_1555910114

2 SubmittersRCV000578180 RCV001034552

NM_004380.3(CREBBP):c.4509C>G (p.Tyr1503Ter)

SNV
Germline

Chr16:3736701

Pathogenic

Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Multiple Submitters
No Conflicts

CA394563542

rs_1555473105

2 SubmittersRCV000598406 RCV005231144

NM_004380.3(CREBBP):c.5905C>T (p.Gln1969Ter)

SNV
Germline

Chr16:3729142

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394555031

rs_1567262537

2 SubmittersRCV000754905

NM_004380.3(CREBBP):c.4660A>T (p.Lys1554Ter)

SNV
Germline

Chr16:3736104

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394562360

rs_1567269316

1 SubmittersRCV000754903

NM_004380.3(CREBBP):c.1941+1G>T

SNV
Germline

Chr16:3778699

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394555076

rs_1555483834

1 SubmittersRCV000754898

NM_004380.3(CREBBP):c.271G>T (p.Ala91Ser)

SNV
Germline

Chr16:3850824

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7870710

rs_200673670

3 SubmittersRCV000658735 RCV001198613 RCV003594013

NM_004380.3(CREBBP):c.3061-1G>T

SNV
Germline

Chr16:3767910

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394571150

rs_1555481030

1 SubmittersRCV000661965

NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln)

SNV
Germline

Chr16:3729210

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Inborn genetic diseases
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP-related disorder
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Conflicting Classifications

CA7869240

rs_765600316

5 SubmittersRCV002233339 RCV002352188 RCV002485719 RCV003420244 RCV005863252

NM_004380.3(CREBBP):c.7162G>A (p.Ala2388Thr)

SNV
Germline

Chr16:3727885

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7868942

rs_756011865

3 SubmittersRCV000714678 RCV002369985 RCV004689865

NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met)

SNV
Germline

Chr16:3729307

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7869250

rs_760771706

3 SubmittersRCV000714851 RCV002477653 RCV002532980

NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser)

SNV
Germline

Chr22:41177394

Conflicting classifications of pathogenicity

Condition: not provided
Menke-Hennekam syndrome 2
Rubinstein-Taybi syndrome due to CREBBP mutations
Colorectal cancer
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10253686

rs_749979249

4 SubmittersRCV000731278 RCV002493335 RCV002535200 RCV004027003

NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg)

SNV
Germline

Chr16:3782737

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA7870442

rs_766320521

4 SubmittersRCV000731898 RCV001868968 RCV002485905 RCV004742619

NM_004380.3(CREBBP):c.5638C>T (p.Gln1880Ter)

SNV
Germline

Chr16:3729409

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394555848

rs_2151309318

2 SubmittersRCV003147541 RCV003594027

NM_004380.3(CREBBP):c.3512C>G (p.Thr1171Arg)

SNV
Germline

Chr16:3757906

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394568761

rs_1567287477

1 SubmittersRCV000760233

NM_004380.3(CREBBP):c.85+1G>A

SNV
Unknown

Chr16:3879831

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394567664

rs_1597099388

1 SubmittersRCV000850371

NM_004380.3(CREBBP):c.6436C>T (p.Gln2146Ter)

SNV
Unknown

Chr16:3728611

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394552732

rs_1596783639

1 SubmittersRCV000856797

NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His)

SNV
Germline

Chr16:3731373

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA394558748

rs_1596791996

4 SubmittersRCV000856923 RCV001784472 RCV005021267

NM_004380.3(CREBBP):c.4613C>T (p.Pro1538Leu)

SNV
Germline

Chr16:3736151

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided

Criteria Provided
Single Submitter

CA394562714

rs_1596804126

2 SubmittersRCV000856919 RCV005633762

NM_004380.3(CREBBP):c.4460A>G (p.His1487Arg)

SNV
Unknown

Chr16:3736750

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394563830

rs_1596805792

1 SubmittersRCV000856917

NM_004380.3(CREBBP):c.4417G>A (p.Ala1473Thr)

SNV
Unknown

Chr16:3736793

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394564004

rs_1596805927

1 SubmittersRCV000856883

NM_004380.3(CREBBP):c.4303G>T (p.Asp1435Tyr)

SNV
Germline

Chr16:3738650

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394564563

rs_1596810419

1 SubmittersRCV000856881

NM_004380.3(CREBBP):c.4297T>C (p.Tyr1433His)

SNV
Germline

Chr16:3738656

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394564588

rs_1596810435

1 SubmittersRCV000856880

NM_004380.3(CREBBP):c.4290C>A (p.Tyr1430Ter)

SNV
Unknown

Chr16:3738663

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394564613

rs_1596810465

1 SubmittersRCV000856879

NM_004380.3(CREBBP):c.4283G>C (p.Arg1428Pro)

SNV
Germline

Chr16:3738670

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394564635

rs_778448390

1 SubmittersRCV000856878

NM_004380.3(CREBBP):c.4277C>G (p.Thr1426Arg)

SNV
Germline

Chr16:3739581

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394564684

rs_145988918

2 SubmittersRCV000856876 RCV006250893

NM_004380.3(CREBBP):c.4243C>T (p.Gln1415Ter)

SNV
Unknown

Chr16:3739615

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394564758

rs_1596812202

1 SubmittersRCV000856875

NM_004380.3(CREBBP):c.4175G>T (p.Arg1392Leu)

SNV
Unknown

Chr16:3739683

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394564911

rs_1596812290

1 SubmittersRCV000856874

NM_004380.3(CREBBP):c.4174C>T (p.Arg1392Ter)

SNV
Germline

Chr16:3739684

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394564914

rs_1596812306

2 SubmittersRCV000856873

NM_004380.3(CREBBP):c.4145C>T (p.Ser1382Phe)

SNV
Germline

Chr16:3739713

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA276982550

rs_149877180

1 SubmittersRCV000856872

NM_004380.3(CREBBP):c.4040G>C (p.Arg1347Pro)

SNV
Unknown

Chr16:3740492

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394565397

rs_1596813665

1 SubmittersRCV000856870

NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr)

SNV
Germline

Chr16:3751786

Pathogenic/Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394568097

rs_1596839714

3 SubmittersRCV000856912 RCV001858527

NM_004380.3(CREBBP):c.3690T>G (p.Tyr1230Ter)

SNV
Unknown

Chr16:3757296

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394568316

rs_748451307

1 SubmittersRCV000856910

NM_004380.3(CREBBP):c.3625C>T (p.Gln1209Ter)

SNV
Germline

Chr16:3757361

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Inborn genetic diseases

Criteria Provided
Single Submitter

CA394568487

rs_1596852578

2 SubmittersRCV000856907 RCV002453935

NM_004380.3(CREBBP):c.3535A>G (p.Ser1179Gly)

SNV
Germline

Chr16:3757883

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394568709

rs_1596854023

1 SubmittersRCV000856904

NM_004380.3(CREBBP):c.3097A>T (p.Lys1033Ter)

SNV
Unknown

Chr16:3767873

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394571000

rs_1596878921

1 SubmittersRCV000856864

NM_004380.3(CREBBP):c.3058G>T (p.Glu1020Ter)

SNV
Unknown

Chr16:3769176

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394549571

rs_1596882010

1 SubmittersRCV000856862

NM_004380.3(CREBBP):c.2911A>T (p.Arg971Ter)

SNV
Unknown

Chr16:3769323

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394549875

rs_1374436403

1 SubmittersRCV000856860

NM_004380.3(CREBBP):c.2773C>T (p.Gln925Ter)

SNV
Unknown

Chr16:3770677

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394550831

rs_1596886132

1 SubmittersRCV000856855

NM_004380.3(CREBBP):c.1801C>T (p.Arg601Trp)

SNV
Germline

Chr16:3780754

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394556374

rs_1354934373

1 SubmittersRCV000856895

NM_004380.3(CREBBP):c.1646C>G (p.Ser549Ter)

SNV
Unknown

Chr16:3781234

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394556829

rs_1596917200

1 SubmittersRCV000856894

NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter)

SNV
Germline

Chr16:3782708

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394557216

rs_1596920501

2 SubmittersRCV000856892 RCV001234331

NM_004380.3(CREBBP):c.1483C>T (p.Gln495Ter)

SNV
Germline

Chr16:3782774

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided

Criteria Provided
Single Submitter

CA394557519

rs_1596920745

2 SubmittersRCV000856891 RCV005436190

NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter)

SNV
Germline

Chr16:3793494

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Corpus callosum, agenesis of
Rubinstein-Taybi syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394563096

rs_1384496494

4 SubmittersRCV000856851 RCV001526626 RCV005092540

NM_004380.3(CREBBP):c.997G>T (p.Gly333Ter)

SNV
Germline

Chr16:3793605

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394563851

rs_1596948165

1 SubmittersRCV000856849

NM_004380.3(CREBBP):c.613C>T (p.Gln205Ter)

SNV
Unknown

Chr16:3850482

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394559969

rs_1597053504

1 SubmittersRCV000856845

NM_004380.3(CREBBP):c.376G>T (p.Gly126Ter)

SNV
Germline

Chr16:3850719

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394561364

rs_1597054242

1 SubmittersRCV000856842

NM_004380.3(CREBBP):c.4890+1G>A

SNV
Germline

Chr16:3731775

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP-related disorder

No Assertion Criteria Provided

CA394559496

rs_1596793242

2 SubmittersRCV000856922 RCV004726706

NM_004380.3(CREBBP):c.3914+1G>A

SNV
Germline

Chr16:3745276

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394566709

rs_1555475352

1 SubmittersRCV000856869

NM_004380.3(CREBBP):c.3779+1G>T

SNV
Germline

Chr16:3751725

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP-related disorder
Rubinstein-Taybi syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394567957

rs_587783483

4 SubmittersRCV000856913 RCV003413671 RCV002536209 RCV004721656

NM_004380.3(CREBBP):c.3610-1G>C

SNV
Germline

Chr16:3757377

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394568525

rs_1596852670

1 SubmittersRCV000856905

NM_004380.3(CREBBP):c.3610-2A>G

SNV
Unknown

Chr16:3757378

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394568528

rs_1596852674

1 SubmittersRCV000856906

NM_004380.3(CREBBP):c.3060+1G>T

SNV
Germline

Chr16:3769173

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394549562

rs_1596882004

1 SubmittersRCV000856863

NM_004380.3(CREBBP):c.2159-1G>T

SNV
Unknown

Chr16:3774694

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394553441

rs_1596897799

1 SubmittersRCV000856899

NM_004380.3(CREBBP):c.1941+2T>C

SNV
Unknown

Chr16:3778698

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394555073

rs_1596909656

1 SubmittersRCV000856898

NM_004380.3(CREBBP):c.1824-1G>A

SNV
Unknown

Chr16:3778818

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394556108

rs_1596910004

1 SubmittersRCV000856896

NM_004380.3(CREBBP):c.1573+1G>A

SNV
Unknown

Chr16:3782683

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394557104

rs_1596920360

1 SubmittersRCV000856893

NM_004380.3(CREBBP):c.1216+2T>A

SNV
Unknown

Chr16:3793384

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394562029

rs_1596947522

1 SubmittersRCV000856889

NM_004380.3(CREBBP):c.3982+3A>T

SNV
Unknown

Chr16:3744891

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA915949080

rs_1596823180

1 SubmittersRCV000989508

NM_004380.3(CREBBP):c.283G>A (p.Val95Met)

SNV
Germline

Chr16:3850812

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7870703

rs_756802946

5 SubmittersRCV000989513 RCV001655658 RCV002550613

NM_001429.4(EP300):c.3624C>G (p.Ile1208Met)

SNV
Germline

Chr22:41160675

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Colorectal cancer
Menke-Hennekam syndrome 2
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Criteria Provided
Conflicting Classifications

CA411696396

rs_143660871

3 SubmittersRCV000990452 RCV003638728 RCV004726762

NM_001429.4(EP300):c.3749G>A (p.Cys1250Tyr)

SNV
Unknown

Chr22:41164073

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA411697816

rs_1601629319

1 SubmittersRCV000990454

NM_001429.4(EP300):c.4026G>A (p.Arg1342=)

SNV
Germline

Chr22:41168721

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Inborn genetic diseases
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300-related disorder
Condition: not provided
Intellectual disability

Criteria Provided
Conflicting Classifications

CA10253326

rs_146119145

6 SubmittersRCV000990455 RCV003346243 RCV003638729 RCV003906125 RCV004584843 RCV005626282

NM_004380.3(CREBBP):c.6056G>T (p.Gly2019Val)

SNV
Germline

Chr16:3728991

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Conflicting Classifications

CA7869188

rs_771420935

3 SubmittersRCV000996194 RCV003758953 RCV005021307

NM_004380.3(CREBBP):c.4492C>T (p.Arg1498Ter)

SNV
Germline

Chr16:3736718

Pathogenic

Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Multiple Submitters
No Conflicts

CA394563638

rs_2052070776

2 SubmittersRCV001055503 RCV005601672

NM_004380.3(CREBBP):c.5186G>C (p.Cys1729Ser)

SNV
Germline

Chr16:3729861

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394557784

rs_2051863859

1 SubmittersRCV001089539

NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met)

SNV
Germline

Chr16:3770893

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394551680

rs_542970560

3 SubmittersRCV001197022 RCV002561049 RCV005865467

NM_004380.3(CREBBP):c.2505G>T (p.Met835Ile)

SNV
Germline

Chr16:3770945

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA7870093

rs_759041100

4 SubmittersRCV001197473 RCV002480647 RCV005641979 RCV005437018

NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr)

SNV
Germline

Chr16:3773794

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA394552855

rs_750178517

3 SubmittersRCV001198921 RCV002480650 RCV002560261

NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp)

SNV
Germline

Chr16:3879855

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA394567769

rs_1211983012

2 SubmittersRCV001198521 RCV003759032

NM_004380.3(CREBBP):c.1823T>C (p.Leu608Pro)

SNV
Unknown

Chr16:3780732

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394556274

rs_2053254528

1 SubmittersRCV001249727

NM_004380.3(CREBBP):c.5357G>A (p.Arg1786His)

SNV
Germline

Chr16:3729690

Pathogenic/Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA276972266

rs_988251457

2 SubmittersRCV001249612 RCV001847212

NM_004380.3(CREBBP):c.4262G>T (p.Cys1421Phe)

SNV
Germline

Chr16:3739596

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394564713

rs_200616542

1 SubmittersRCV001249613

NM_004380.3(CREBBP):c.3779+1G>C

SNV
Germline

Chr16:3751725

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394567958

rs_587783483

2 SubmittersRCV001252207

NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg)

SNV
Germline

Chr16:3731206

Pathogenic/Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394558036

rs_2051906390

3 SubmittersRCV001253321 RCV003223712

NM_004380.3(CREBBP):c.1977C>A (p.Tyr659Ter)

SNV
Unknown

Chr16:3778147

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394554816

rs_2053190428

1 SubmittersRCV001253817

NM_001429.4(EP300):c.1781C>T (p.Thr594Met)

SNV
Germline

Chr22:41140160

Conflicting classifications of pathogenicity

Multicystic kidney dysplasia
Rubinstein-Taybi syndrome due to CREBBP mutations
Colorectal cancer
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Menke-Hennekam syndrome 2
EP300-related disorder
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Criteria Provided
Conflicting Classifications

CA10252632

rs_750740148

4 SubmittersRCV001254709 RCV002485996 RCV003405464 RCV002570571

NM_004380.3(CREBBP):c.6250C>T (p.Gln2084Ter)

SNV
Germline

Chr16:3728797

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Multiple Submitters
No Conflicts

CA394553802

rs_2051825168

2 SubmittersRCV001265550

NM_004380.3(CREBBP):c.5345C>T (p.Ala1782Val)

SNV
Germline

Chr16:3729702

Pathogenic/Likely pathogenic

Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Multiple Submitters
No Conflicts

CA394557089

rs_2051858361

4 SubmittersRCV001268568 RCV005225341

NM_004380.3(CREBBP):c.2854G>A (p.Val952Met)

SNV
Germline

Chr16:3770596

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome
Inborn genetic diseases
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA7870022

rs_369930675

5 SubmittersRCV001293919 RCV002486106 RCV002538429 RCV004609724 RCV003393959

NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr)

SNV
Germline

Chr16:3727863

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7868939

rs_759047530

4 SubmittersRCV001332437 RCV002476549 RCV003759046 RCV005809544

NM_004380.3(CREBBP):c.69G>A (p.Ser23=)

SNV
Germline

Chr16:3879848

Conflicting classifications of pathogenicity

Tip-toe gait
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7870761

rs_766095612

3 SubmittersRCV001352939 RCV002504567 RCV003771031

NM_001429.4(EP300):c.695G>C (p.Gly232Ala)

SNV
Germline

Chr22:41117787

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations
Colorectal cancer
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Menke-Hennekam syndrome 2
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300-related disorder

Criteria Provided
Conflicting Classifications

CA411681627

rs_1261612920

4 SubmittersRCV001355626 RCV002493823 RCV002547613 RCV003908543

NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe)

SNV
Germline

Chr16:3731304

Likely pathogenic

Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA394558449

rs_2151316542

2 SubmittersRCV001377314 RCV002504629

NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu)

SNV
Germline

Chr16:3728208

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA7868985

rs_781438241

3 SubmittersRCV001420558 RCV002554090 RCV004743472

NM_004380.3(CREBBP):c.3893A>G (p.Tyr1298Cys)

SNV
Germline

Chr16:3745298

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA394566762

rs_773159964

2 SubmittersRCV001420511 RCV006467058

NM_004380.3(CREBBP):c.6388C>T (p.Gln2130Ter)

SNV
Unknown

Chr16:3728659

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394553500

rs_2151304304

1 SubmittersRCV001563617

NM_004380.3(CREBBP):c.5836C>G (p.Pro1946Ala)

SNV
Germline

Chr16:3729211

Conflicting classifications of pathogenicity

Condition: not provided
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP-related disorder
Inborn genetic diseases
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA394555303

rs_1321085895

5 SubmittersRCV001578063 RCV002495924 RCV004743553 RCV002359190 RCV002568505

NM_004380.3(CREBBP):c.3061-11T>C

SNV
Germline

Chr16:3767920

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA7869930

rs_762277548

2 SubmittersRCV001594162 RCV005014599

NM_004380.3(CREBBP):c.1942-5T>C

SNV
Germline

Chr16:3778187

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
CREBBP-related disorder
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA720710965

rs_1482514446

4 SubmittersRCV001664956 RCV003759062 RCV004743560 RCV005005984

NM_004380.3(CREBBP):c.3233C>T (p.Ser1078Leu)

SNV
Germline

Chr16:3767737

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA277006799

rs_942848385

4 SubmittersRCV001658967 RCV002539623 RCV002488449 RCV005540476

NM_004380.3(CREBBP):c.5930T>A (p.Ile1977Asn)

SNV
Germline

Chr16:3729117

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
CREBBP-related disorder
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA7869224

rs_754429038

4 SubmittersRCV001708176 RCV003759063 RCV004743562 RCV005014617

NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile)

SNV
Germline

Chr16:3770852

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Inborn genetic diseases
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA7870068

rs_771016864

6 SubmittersRCV001756480 RCV001882821 RCV002496068 RCV002539869 RCV003931312

NM_004380.3(CREBBP):c.6324C>G (p.Tyr2108Ter)

SNV
Germline

Chr16:3728723

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394553635

rs_199821421

2 SubmittersRCV001754541 RCV006458648

NM_004380.3(CREBBP):c.4133G>A (p.Arg1378Gln)

SNV
Germline

Chr16:3740399

Pathogenic

Neurodevelopmental disorder
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Multiple Submitters
No Conflicts

CA394565195

rs_121434626

2 SubmittersRCV001780057 RCV005860255

NM_004380.3(CREBBP):c.2141G>A (p.Arg714His)

SNV
Germline

Chr16:3777630

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Conflicting Classifications

CA7870248

rs_141098117

4 SubmittersRCV001787528 RCV003594157 RCV005014665

NM_004380.3(CREBBP):c.2303G>A (p.Arg768Gln)

SNV
Germline

Chr16:3773911

Conflicting classifications of pathogenicity

Condition: not provided
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7870165

rs_754386072

3 SubmittersRCV001806591 RCV002478034 RCV003759076

NM_004380.3(CREBBP):c.3370-2A>G

SNV
Germline

Chr16:3758050

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA276997994

rs_866703165

1 SubmittersRCV001807959

NM_004380.3(CREBBP):c.3940A>T (p.Lys1314Ter)

SNV
Germline

Chr16:3744936

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394566640

rs_2151354104

1 SubmittersRCV001814883

NM_004380.3(CREBBP):c.7222A>G (p.Met2408Val)

SNV
Germline

Chr16:3727825

Conflicting classifications of pathogenicity

not specified
CREBBP-related disorder
Inborn genetic diseases
Condition: not provided
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA7868932

rs_372005280

6 SubmittersRCV001819627 RCV003416476 RCV005809624 RCV004598151 RCV005095256 RCV005014677

NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala)

SNV
Germline

Chr16:3729253

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP-related disorder
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA7869245

rs_749249146

4 SubmittersRCV002542829 RCV001839234 RCV003976232 RCV002478074

NM_004380.3(CREBBP):c.4991G>T (p.Arg1664Leu)

SNV
Germline

Chr16:3731373

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394558743

rs_1596791996

1 SubmittersRCV001842251

NM_004380.3(CREBBP):c.5796G>A (p.Thr1932=)

SNV
Germline

Chr16:3729251

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Condition: not provided
CREBBP-related disorder
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Conflicting Classifications

CA7869243

rs_755609198

4 SubmittersRCV001943718 RCV003407954 RCV004743654 RCV005016849

NM_001429.4(EP300):c.454G>A (p.Gly152Ser)

SNV
Germline

Chr22:41117546

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Colorectal cancer
Menke-Hennekam syndrome 2
Rubinstein-Taybi syndrome due to CREBBP mutations
Inborn genetic diseases
EP300-related disorder

Criteria Provided
Conflicting Classifications

CA10252254

rs_142758675

4 SubmittersRCV002545689 RCV002489936 RCV002545418 RCV003913423

NM_004380.3(CREBBP):c.1930G>C (p.Ala644Pro)

SNV
Germline

Chr16:3778711

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394555132

rs_2141237064

1 SubmittersRCV002077368

NM_004380.3(CREBBP):c.3832G>C (p.Glu1278Gln)

SNV
Germline

Chr16:3749631

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394567311

rs_267606752

1 SubmittersRCV002226836

NM_004380.3(CREBBP):c.5710C>T (p.Gln1904Ter)

SNV
Germline

Chr16:3729337

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394555696

rs_2151308835

1 SubmittersRCV002226990

NM_004380.3(CREBBP):c.4305T>G (p.Asp1435Glu)

SNV
Germline

Chr16:3738648

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394564554

rs_928061320

1 SubmittersRCV002226996

NM_004380.3(CREBBP):c.5169C>G (p.Cys1723Trp)

SNV
Germline

Chr16:3731195

Pathogenic/Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA394557997

rs_146718571

2 SubmittersRCV002249840 RCV005052854

NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser)

SNV
Germline

Chr16:3757933

Conflicting classifications of pathogenicity

not specified
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
CREBBP-related disorder
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7869804

rs_148166625

4 SubmittersRCV002247112 RCV002481054 RCV003896086 RCV005095839

NM_004380.3(CREBBP):c.3983-1G>C

SNV
Germline

Chr16:3740550

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394565527

rs_2151341377

1 SubmittersRCV002250932

NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=)

SNV
Germline

Chr16:3736791

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7869519

rs_370689343

2 SubmittersRCV002266677 RCV003096046

NM_004380.3(CREBBP):c.6137C>T (p.Ala2046Val)

SNV
Germline

Chr16:3728910

Conflicting classifications of pathogenicity

Inborn genetic diseases
CREBBP-related disorder
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA7869177

rs_753688167

4 SubmittersRCV002360360 RCV003408247 RCV003594225 RCV005019187

NM_004380.3(CREBBP):c.235G>A (p.Gly79Ser)

SNV
Germline

Chr16:3850860

Conflicting classifications of pathogenicity

Inborn genetic diseases
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA7870719

rs_752992134

3 SubmittersRCV002448524 RCV003759728 RCV005008582

NM_004380.3(CREBBP):c.2495C>A (p.Pro832His)

SNV
Germline

Chr16:3770955

Conflicting classifications of pathogenicity

Inborn genetic diseases
CREBBP-related disorder
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA7870096

rs_755952440

3 SubmittersRCV002430992 RCV004744365 RCV005019202

NM_004380.3(CREBBP):c.2810C>T (p.Pro937Leu)

SNV
Germline

Chr16:3770640

Conflicting classifications of pathogenicity

Inborn genetic diseases
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7870037

rs_766849648

3 SubmittersRCV002441702 RCV005019204 RCV005098299

NM_004380.3(CREBBP):c.3749C>A (p.Thr1250Asn)

SNV
Germline

Chr16:3751756

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA394568026

rs_1567282634

2 SubmittersRCV002471593 RCV006471431

NM_004380.3(CREBBP):c.4251C>G (p.Tyr1417Ter)

SNV
Germline

Chr16:3739607

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394564738

rs_61731412

1 SubmittersRCV002471646

NM_004380.3(CREBBP):c.5683C>T (p.Gln1895Ter)

SNV
Germline

Chr16:3729364

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394555756

rs_2151309006

1 SubmittersRCV002470191

NM_004380.3(CREBBP):c.5264G>A (p.Ser1755Asn)

SNV
Germline

Chr16:3729783

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
CREBBP-related disorder
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Conflicting Classifications

CA7869302

rs_141069312

3 SubmittersRCV003076657 RCV003410062 RCV005019610

NM_004380.3(CREBBP):c.3307C>T (p.Arg1103Ter)

SNV
Germline

Chr16:3758916

Pathogenic

Rubinstein-Taybi syndrome
Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Multiple Submitters
No Conflicts

CA394569552

rs_2151385663

4 SubmittersRCV003064314 RCV003320911 RCV005869996

NM_004380.3(CREBBP):c.175C>T (p.Leu59Phe)

SNV
Germline

Chr16:3850920

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Conflicting Classifications

CA7870728

rs_747862621

2 SubmittersRCV003086185 RCV005019659

NM_004380.3(CREBBP):c.4795A>G (p.Ser1599Gly)

SNV
Germline

Chr16:3731871

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Conflicting Classifications

CA7869422

rs_766942126

2 SubmittersRCV003069068 RCV005019645

NM_004380.3(CREBBP):c.7195C>T (p.His2399Tyr)

SNV
Germline

Chr16:3727852

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Inborn genetic diseases
CREBBP-related disorder
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA7868936

rs_369215519

4 SubmittersRCV002588325 RCV004978617 RCV003963661 RCV005021583

NM_004380.3(CREBBP):c.3250A>T (p.Ile1084Phe)

SNV
Germline

Chr16:3767720

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA7869901

rs_751237748

2 SubmittersRCV002624063 RCV005021632

NM_004380.3(CREBBP):c.288G>A (p.Gln96=)

SNV
Germline

Chr16:3850807

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
CREBBP-related disorder
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
not specified

Criteria Provided
Conflicting Classifications

CA7870702

rs_370300481

4 SubmittersRCV002628969 RCV004744624 RCV005021637 RCV005930628

NM_004380.3(CREBBP):c.1725C>T (p.Ser575=)

SNV
Germline

Chr16:3780830

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Conflicting Classifications

CA7870369

rs_770666980

2 SubmittersRCV002633934 RCV005021647

NM_004380.3(CREBBP):c.2264G>A (p.Ser755Asn)

SNV
Germline

Chr16:3774588

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA7870204

rs_376103794

2 SubmittersRCV002586171 RCV005019239

NM_004380.3(CREBBP):c.2347A>G (p.Met783Val)

SNV
Germline

Chr16:3773867

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA7870159

rs_144200709

2 SubmittersRCV002690226 RCV005019332

NM_004380.3(CREBBP):c.6110G>A (p.Arg2037Lys)

SNV
Germline

Chr16:3728937

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
CREBBP-related disorder
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA394554202

rs_1481703137

3 SubmittersRCV002770977 RCV004725377 RCV005019397

NM_004380.3(CREBBP):c.2284-5C>T

SNV
Germline

Chr16:3773935

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA7870174

rs_763032094

2 SubmittersRCV002751551 RCV005019372

NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)

SNV
Germline

Chr16:3727840

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA394550308

rs_1379999620

2 SubmittersRCV002871300 RCV005019417

NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)

SNV
Germline

Chr16:3728315

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7869014

rs_201356785

6 SubmittersRCV002913825 RCV003455600 RCV004744469 RCV005425008 RCV004973702

NM_004380.3(CREBBP):c.6829C>T (p.Pro2277Ser)

SNV
Germline

Chr16:3728218

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Conflicting Classifications

CA7868990

rs_771721926

2 SubmittersRCV002904786 RCV005019469

NM_004380.3(CREBBP):c.2537C>T (p.Pro846Leu)

SNV
Germline

Chr16:3770913

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
CREBBP-related disorder
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA7870089

rs_371282657

3 SubmittersRCV002932216 RCV004744475 RCV005019461

NM_004380.3(CREBBP):c.964G>A (p.Val322Met)

SNV
Germline

Chr16:3810614

Conflicting classifications of pathogenicity

Inborn genetic diseases
CREBBP-related disorder
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome
not specified

Criteria Provided
Conflicting Classifications

CA277007739

rs_587778212

5 SubmittersRCV002686846 RCV003420409 RCV005011103 RCV005099468 RCV006262655

NM_004380.3(CREBBP):c.6542A>G (p.Asn2181Ser)

SNV
Germline

Chr16:3728505

Conflicting classifications of pathogenicity

Inborn genetic diseases
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA7869084

rs_768978068

2 SubmittersRCV002673497 RCV005021678

NM_001429.4(EP300):c.772A>G (p.Thr258Ala)

SNV
Germline

Chr22:41125906

Conflicting classifications of pathogenicity

Inborn genetic diseases
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300-related disorder
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 2
Colorectal cancer
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Criteria Provided
Conflicting Classifications

CA10252353

rs_201804130

4 SubmittersRCV002738615 RCV003526228 RCV003918996 RCV005399231

NM_001429.4(EP300):c.2893C>T (p.Gln965Ter)

SNV
Germline

Chr22:41151908

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA411692884

rs_2059047949

1 SubmittersRCV003127285

NM_004380.3(CREBBP):c.3517C>T (p.Arg1173Ter)

SNV
Germline

Chr16:3757901

Pathogenic

Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Multiple Submitters
No Conflicts

CA394568751

rs_2151383341

3 SubmittersRCV003136570 RCV004594680

NM_004380.3(CREBBP):c.2701C>T (p.Pro901Ser)

SNV
Germline

Chr16:3770749

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7870046

rs_148286133

2 SubmittersRCV003148473 RCV006473730

NM_004380.3(CREBBP):c.6169C>T (p.Gln2057Ter)

SNV
Germline

Chr16:3728878

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Multiple Submitters
No Conflicts

CA394553982

rs_1467929364

2 SubmittersRCV003148514

NM_004380.3(CREBBP):c.2113+1G>C

SNV
Unknown

Chr16:3778010

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394554229

rs_2141232415

1 SubmittersRCV003314281

NM_004380.3(CREBBP):c.1094A>C (p.His365Pro)

SNV
Unknown

Chr16:3793508

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394563185

rs_2548464208

1 SubmittersRCV003315205

NM_004380.3(CREBBP):c.1824-1G>C

SNV
Germline

Chr16:3778818

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

CA394556107

rs_1596910004

2 SubmittersRCV003388801 RCV005932731

NM_004380.3(CREBBP):c.503C>T (p.Thr168Met)

SNV
Germline

Chr16:3850592

Conflicting classifications of pathogenicity

not specified
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA7870660

rs_772863270

3 SubmittersRCV003404954 RCV003778351 RCV005012943

NM_004380.3(CREBBP):c.463G>A (p.Ala155Thr)

SNV
Germline

Chr16:3850632

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Conflicting Classifications

CA7870669

rs_780333650

3 SubmittersRCV003417617 RCV003778394 RCV005012952

NM_004380.3(CREBBP):c.2159-15T>C

SNV
Germline

Chr16:3774708

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA276971192

rs_979097895

2 SubmittersRCV003595303 RCV005014748

NM_004380.3(CREBBP):c.1735A>G (p.Thr579Ala)

SNV
Germline

Chr16:3780820

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
CREBBP-related disorder
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7870367

rs_370489037

4 SubmittersRCV003595588 RCV004741638 RCV005013030 RCV006343038

NM_004380.3(CREBBP):c.3214T>G (p.Ser1072Ala)

SNV
Germline

Chr16:3767756

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA277006808

rs_947598568

2 SubmittersRCV003593410 RCV005014783

NM_004380.3(CREBBP):c.2788C>T (p.Pro930Ser)

SNV
Germline

Chr16:3770662

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
CREBBP-related disorder
Inborn genetic diseases
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA394550767

rs_1464234725

4 SubmittersRCV003593520 RCV004741641 RCV004980883 RCV005014790

NM_004380.3(CREBBP):c.4894T>G (p.Phe1632Val)

SNV
Germline

Chr16:3731470

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Conflicting Classifications

CA394559126

rs_587783501

3 SubmittersRCV005235725 RCV003760060 RCV005256467

NM_004380.3(CREBBP):c.5910G>T (p.Gln1970His)

SNV
Germline

Chr16:3729137

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
CREBBP-related disorder
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7869230

rs_749069343

5 SubmittersRCV003760214 RCV004741686 RCV005014901 RCV005812192 RCV006264123

NM_004380.3(CREBBP):c.4807G>A (p.Ala1603Thr)

SNV
Germline

Chr16:3731859

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
CREBBP-related disorder
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Conflicting Classifications

CA7869420

rs_375557093

4 SubmittersRCV003760247 RCV004741690 RCV005014906 RCV005439162

NM_004380.3(CREBBP):c.2307G>A (p.Met769Ile)

SNV
Germline

Chr16:3773907

Conflicting classifications of pathogenicity

CREBBP-related disorder
Condition: not provided
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7870164

rs_778251901

4 SubmittersRCV003904398 RCV004767510 RCV005015098 RCV005101680

NM_004380.3(CREBBP):c.6479C>T (p.Ala2160Val)

SNV
Germline

Chr16:3728568

Conflicting classifications of pathogenicity

CREBBP-related disorder
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7869098

rs_779980394

3 SubmittersRCV003899317 RCV005015088 RCV005064717

NM_004380.3(CREBBP):c.1824-1G>T

SNV
Germline

Chr16:3778818

Pathogenic

CREBBP-related disorder
Rubinstein-Taybi syndrome due to CREBBP mutations
Thyroid cancer, nonmedullary, 1

Criteria Provided
Single Submitter

CA394556105

rs_1596910004

3 SubmittersRCV003911583 RCV005603860 RCV005936801

NM_004380.3(CREBBP):c.4471C>A (p.Gln1491Lys)

SNV
Germline

Chr16:3736739

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA276980080

rs_201156486

1 SubmittersRCV003990437

NM_004380.3(CREBBP):c.901C>T (p.Gln301Ter)

SNV
Germline

Chr16:3810677

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

rs_2548493542

1 SubmittersRCV004595831

NM_004380.3(CREBBP):c.2689C>T (p.Gln897Ter)

SNV
Germline

Chr16:3770761

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

1 SubmittersRCV004596023

NM_004380.3(CREBBP):c.4508A>T (p.Tyr1503Phe)

SNV
Germline/somatic

Chr16:3736702

Likely pathogenic

Neoplasm
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

2 SubmittersRCV004666591 RCV004720548

NM_004380.3(CREBBP):c.4103C>T (p.Thr1368Met)

SNV
Germline

Chr16:3740429

Conflicting classifications of pathogenicity

CREBBP-related disorder
Rubinstein-Taybi syndrome
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004742736 RCV005103686 RCV005017236

NM_004380.3(CREBBP):c.2554C>G (p.Pro852Ala)

SNV
Germline

Chr16:3770896

Conflicting classifications of pathogenicity

CREBBP-related disorder
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome
not specified

Criteria Provided
Conflicting Classifications

4 SubmittersRCV004743151 RCV005017243 RCV005103753 RCV005433531

NM_004380.3(CREBBP):c.5629G>A (p.Val1877Met)

SNV
Germline

Chr16:3729418

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004764657 RCV005059912

NM_004380.3(CREBBP):c.1301A>T (p.Lys434Ile)

SNV
Germline

Chr16:3792010

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

1 SubmittersRCV004795264

NM_004380.3(CREBBP):c.3836+5G>A

SNV
Germline

Chr16:3749622

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004795459

NM_004380.3(CREBBP):c.3649C>T (p.Gln1217Ter)

SNV
Germline

Chr16:3757337

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

1 SubmittersRCV004795718

NM_004380.3(CREBBP):c.5997C>T (p.Ser1999=)

SNV
Germline

Chr16:3729050

Conflicting classifications of pathogenicity

Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005015385 RCV005112636

NM_004380.3(CREBBP):c.5992G>T (p.Val1998Leu)

SNV
Germline

Chr16:3729055

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005015386 RCV005112637

NM_004380.3(CREBBP):c.5197T>G (p.Tyr1733Asp)

SNV
Germline

Chr16:3729850

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

1 SubmittersRCV005236983

NM_004380.3(CREBBP):c.2284-2A>G

SNV
Germline

Chr16:3773932

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

1 SubmittersRCV005254254

NM_004380.3(CREBBP):c.3610-1G>T

SNV
Germline

Chr16:3757377

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

1 SubmittersRCV005882426

NM_004380.3(CREBBP):c.85+1G>C

SNV
Germline

Chr16:3879831

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

1 SubmittersRCV006257827

NM_004380.3(CREBBP):c.4154T>A (p.Met1385Lys)

SNV
Germline

Chr16:3739704

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

1 SubmittersRCV006269182