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	Criteria Provided Single Submitter	CA254813	rs_121434626	2 SubmittersRCV000010037
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	4 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 Inborn genetic diseases Abnormality of the nervous system Intellectual disability Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations CREBBP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA254815	rs_267606752	13 SubmittersRCV000010040 RCV000255660 RCV001267080 RCV001813970 RCV001260694 RCV002496320 RCV004742224
NM_004380.3(CREBBP):c.3837-2A>T	SNV Germline	Chr16:3745356	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided		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	Inborn genetic diseases Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome CREBBP-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA222672	rs_369459749	6 SubmittersRCV002381401 RCV002265601 RCV002514423 RCV004742248 RCV000081029
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg)	SNV Germline	Chr16:3773902	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Inborn genetic diseases CREBBP-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA222683	rs_147805823	6 SubmittersRCV001854429 RCV002477232 RCV002514426 RCV003974970 RCV000081037
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	Pathogenic/Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome Neoplasm Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA222695	rs_398124146	5 SubmittersRCV000700948 RCV002228327 RCV004668773 RCV000081052
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)	SNV Germline	Chr16:3729328	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome Inborn genetic diseases CREBBP-related disorder not specified Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Conflicting Classifications	CA248675	rs_199990883	13 SubmittersRCV000224624 RCV001085724 RCV002311611 RCV003982877 RCV000081061 RCV000145767
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 due to CREBBP mutations Menke-Hennekam syndrome 1 Condition: not provided CREBBP-related disorder Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA271440	rs_587783512	5 SubmittersRCV000145778 RCV002492531 RCV003456371 RCV003390831 RCV003758698
NM_004380.3(CREBBP):c.6088C>T (p.Gln2030Ter)	SNV Germline	Chr16:3728959	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271436	rs_587783510	1 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 Tip-toe gait Inborn genetic diseases Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA243769	rs_587783504	8 SubmittersRCV000145768 RCV000177560 RCV002221200 RCV002354332 RCV001087896 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	Criteria Provided Multiple Submitters No Conflicts	CA271396	rs_200782888	4 SubmittersRCV000145741 RCV001390957 RCV004589638
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	Criteria Provided Multiple Submitters No Conflicts	CA271393	rs_587783483	9 SubmittersRCV000145739 RCV000255068 RCV001260696 RCV002498664
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	Criteria Provided Conflicting Classifications	CA271377	rs_587783474	2 SubmittersRCV000145727 RCV003593917
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	Criteria Provided Single Submitter	CA271443	rs_587783516	1 SubmittersRCV000145784
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 Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA271365	rs_587783466	3 SubmittersRCV000145718 RCV002478406 RCV003764886
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	Criteria Provided Conflicting Classifications	CA243767	rs_557611780	5 SubmittersRCV000177559 RCV003416090 RCV003593928 RCV004799188
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 Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations 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	Global developmental delay Scoliosis 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 Unknown	Chr16:3757288	Likely pathogenic	Glaucoma Thumb deformity Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA16043514	rs_1057518844	1 SubmittersRCV000415361 RCV001198296
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.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	Criteria Provided Multiple Submitters No Conflicts	CA394560862	rs_1302427305	5 SubmittersRCV000501651 RCV000579110
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 Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations 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.5905C>T (p.Gln1969Ter)	SNV Germline	Chr16:3729142	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter		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		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		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		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		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 Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 CREBBP-related disorder	Criteria Provided Conflicting Classifications		rs_765600316	4 SubmittersRCV002233339 RCV002352188 RCV002485719 RCV003420244
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		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		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 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Menke-Hennekam syndrome 2 Colorectal cancer Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_749979249	4 SubmittersRCV000731278 RCV002535200 RCV002493335 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		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			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			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		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		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	Criteria Provided Single Submitter		rs_1596791996	2 SubmittersRCV000856923 RCV001784472
NM_004380.3(CREBBP):c.4613C>T (p.Pro1538Leu)	SNV Germline	Chr16:3736151	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided		rs_1596804126	1 SubmittersRCV000856919
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		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		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		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		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		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		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	Criteria Provided Single Submitter		rs_145988918	1 SubmittersRCV000856876
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		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		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		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		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		rs_1596813665	1 SubmittersRCV000856870
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr)	SNV Germline	Chr16:3751786	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications		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		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		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		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		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		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		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		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		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		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		rs_1596920501	2 SubmittersRCV000856892 RCV001234331
NM_004380.3(CREBBP):c.1483C>T (p.Gln495Ter)	SNV Unknown	Chr16:3782774	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided		rs_1596920745	1 SubmittersRCV000856891
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	Criteria Provided Multiple Submitters No Conflicts		rs_1384496494	3 SubmittersRCV000856851 RCV001526626
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		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		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		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		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		rs_1555475352	1 SubmittersRCV000856869
NM_004380.3(CREBBP):c.3779+1G>T	SNV Germline	Chr16:3751725	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome CREBBP-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_587783483	4 SubmittersRCV000856913 RCV002536209 RCV003413671 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		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		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		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		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		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		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		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		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		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		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 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Colorectal cancer Menke-Hennekam syndrome 2	Criteria Provided Conflicting Classifications		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		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	Criteria Provided Conflicting Classifications		rs_146119145	5 SubmittersRCV000990455 RCV003346243 RCV003638729 RCV003906125 RCV004584843
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		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	Criteria Provided Conflicting Classifications		rs_542970560	2 SubmittersRCV001197022 RCV002561049
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr)	SNV Germline	Chr16:3773794	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	Criteria Provided Conflicting Classifications		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		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		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		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		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		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		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		rs_2053190428	1 SubmittersRCV001253817
NM_001429.4(EP300):c.1781C>T (p.Thr594Met)	SNV Germline	Chr22:41140160	Conflicting classifications of pathogenicity	Multicystic kidney dysplasia Menke-Hennekam syndrome 2 Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Colorectal cancer Rubinstein-Taybi syndrome due to EP300 haploinsufficiency EP300-related disorder	Criteria Provided Conflicting Classifications		rs_750740148	4 SubmittersRCV001254709 RCV002485996 RCV002570571 RCV003405464
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		rs_2051825168	2 SubmittersRCV001265550
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 CREBBP-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_369930675	5 SubmittersRCV001293919 RCV002486106 RCV002538429 RCV003393959 RCV004609724
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr)	SNV Germline	Chr16:3727863	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	Criteria Provided Conflicting Classifications		rs_759047530	3 SubmittersRCV001332437 RCV002476549 RCV003759046
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		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 Menke-Hennekam syndrome 2 Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Colorectal cancer Rubinstein-Taybi syndrome due to EP300 haploinsufficiency EP300-related disorder	Criteria Provided Conflicting Classifications		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		rs_2151316542	2 SubmittersRCV001377314 RCV002504629
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		rs_2151304304	1 SubmittersRCV001563617
NM_004380.3(CREBBP):c.5836C>G (p.Pro1946Ala)	SNV Germline	Chr16:3729211	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 CREBBP-related disorder	Criteria Provided Conflicting Classifications		rs_1321085895	5 SubmittersRCV001578063 RCV002359190 RCV002568505 RCV002495924 RCV004743553
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile)	SNV Germline	Chr16:3770852	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		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	Criteria Provided Single Submitter		rs_199821421	1 SubmittersRCV001754541
NM_004380.3(CREBBP):c.2303G>A (p.Arg768Gln)	SNV Germline	Chr16:3773911	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		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		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		rs_2151354104	1 SubmittersRCV001814883
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala)	SNV Germline	Chr16:3729253	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 CREBBP-related disorder	Criteria Provided Conflicting Classifications		rs_749249146	4 SubmittersRCV001839234 RCV002478074 RCV002542829 RCV003976232
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		rs_1596791996	1 SubmittersRCV001842251
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 CREBBP mutations Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Menke-Hennekam syndrome 2 Colorectal cancer Inborn genetic diseases EP300-related disorder	Criteria Provided Conflicting Classifications		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		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		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		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		rs_928061320	1 SubmittersRCV002226996
NM_004380.3(CREBBP):c.5169C>G (p.Cys1723Trp)	SNV Germline	Chr16:3731195	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter		rs_146718571	1 SubmittersRCV002249840
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		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		rs_370689343	2 SubmittersRCV002266677 RCV003096046
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			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			1 SubmittersRCV002470191
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			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			3 SubmittersRCV003136570 RCV004594680
NM_004380.3(CREBBP):c.6169C>T (p.Gln2057Ter)	SNV Unknown	Chr16:3728878	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter			1 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			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			1 SubmittersRCV003315205
NM_004380.3(CREBBP):c.1824-1G>C	SNV Germline	Chr16:3778818	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter			1 SubmittersRCV003388801
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			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			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.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	Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations	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.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

Criteria Provided
Single Submitter

CA254813

rs_121434626

2 SubmittersRCV000010037

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

4 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
Inborn genetic diseases
Abnormality of the nervous system
Intellectual disability
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA254815

rs_267606752

13 SubmittersRCV000010040 RCV000255660 RCV001267080 RCV001813970 RCV001260694 RCV002496320 RCV004742224

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

SNV
Germline

Chr16:3745356

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

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

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

Criteria Provided
Conflicting Classifications

CA222672

rs_369459749

6 SubmittersRCV002381401 RCV002265601 RCV002514423 RCV004742248 RCV000081029

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

SNV
Germline

Chr16:3773902

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA222683

rs_147805823

6 SubmittersRCV001854429 RCV002477232 RCV002514426 RCV003974970 RCV000081037

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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA222695

rs_398124146

5 SubmittersRCV000700948 RCV002228327 RCV004668773 RCV000081052

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

SNV
Germline

Chr16:3729328

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA248675

rs_199990883

13 SubmittersRCV000224624 RCV001085724 RCV002311611 RCV003982877 RCV000081061 RCV000145767

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

Criteria Provided
Conflicting Classifications

CA271440

rs_587783512

5 SubmittersRCV000145778 RCV002492531 RCV003456371 RCV003390831 RCV003758698

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

SNV
Germline

Chr16:3728959

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271436

rs_587783510

1 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
Tip-toe gait
Inborn genetic diseases
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA243769

rs_587783504

8 SubmittersRCV000145768 RCV000177560 RCV002221200 RCV002354332 RCV001087896 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

Criteria Provided
Multiple Submitters
No Conflicts

CA271396

rs_200782888

4 SubmittersRCV000145741 RCV001390957 RCV004589638

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

Criteria Provided
Multiple Submitters
No Conflicts

CA271393

rs_587783483

9 SubmittersRCV000145739 RCV000255068 RCV001260696 RCV002498664

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

Criteria Provided
Conflicting Classifications

CA271377

rs_587783474

2 SubmittersRCV000145727 RCV003593917

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

Criteria Provided
Single Submitter

CA271443

rs_587783516

1 SubmittersRCV000145784

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

Criteria Provided
Conflicting Classifications

CA271365

rs_587783466

3 SubmittersRCV000145718 RCV002478406 RCV003764886

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

Criteria Provided
Conflicting Classifications

CA243767

rs_557611780

5 SubmittersRCV000177559 RCV003416090 RCV003593928 RCV004799188

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

Global developmental delay
Scoliosis
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
Unknown

Chr16:3757288

Likely pathogenic

Glaucoma
Thumb deformity
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA16043514

rs_1057518844

1 SubmittersRCV000415361 RCV001198296

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.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

Criteria Provided
Multiple Submitters
No Conflicts

CA394560862

rs_1302427305

5 SubmittersRCV000501651 RCV000579110

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
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome due to CREBBP mutations
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.5905C>T (p.Gln1969Ter)

SNV
Germline

Chr16:3729142

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

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

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

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

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

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

Criteria Provided
Conflicting Classifications

rs_765600316

4 SubmittersRCV002233339 RCV002352188 RCV002485719 RCV003420244

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

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

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

Criteria Provided
Conflicting Classifications

rs_749979249

4 SubmittersRCV000731278 RCV002535200 RCV002493335 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

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

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

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

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

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

Criteria Provided
Single Submitter

rs_1596791996

2 SubmittersRCV000856923 RCV001784472

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

SNV
Germline

Chr16:3736151

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

rs_1596804126

1 SubmittersRCV000856919

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

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

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

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

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

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

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

Criteria Provided
Single Submitter

rs_145988918

1 SubmittersRCV000856876

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

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

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

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

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

rs_1596813665

1 SubmittersRCV000856870

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

SNV
Germline

Chr16:3751786

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

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

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

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

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

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

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

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

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

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

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

rs_1596920501

2 SubmittersRCV000856892 RCV001234331

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

SNV
Unknown

Chr16:3782774

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

rs_1596920745

1 SubmittersRCV000856891

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1384496494

3 SubmittersRCV000856851 RCV001526626

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

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

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

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

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

rs_1555475352

1 SubmittersRCV000856869

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

SNV
Germline

Chr16:3751725

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_587783483

4 SubmittersRCV000856913 RCV002536209 RCV003413671 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

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

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

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

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

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

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

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

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

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

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

Criteria Provided
Conflicting Classifications

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

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

Criteria Provided
Conflicting Classifications

rs_146119145

5 SubmittersRCV000990455 RCV003346243 RCV003638729 RCV003906125 RCV004584843

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

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

Criteria Provided
Conflicting Classifications

rs_542970560

2 SubmittersRCV001197022 RCV002561049

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

SNV
Germline

Chr16:3773794

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

Criteria Provided
Conflicting Classifications

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

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

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

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

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

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

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

rs_2053190428

1 SubmittersRCV001253817

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

SNV
Germline

Chr22:41140160

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_750740148

4 SubmittersRCV001254709 RCV002485996 RCV002570571 RCV003405464

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

rs_2051825168

2 SubmittersRCV001265550

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
CREBBP-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_369930675

5 SubmittersRCV001293919 RCV002486106 RCV002538429 RCV003393959 RCV004609724

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

SNV
Germline

Chr16:3727863

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

Criteria Provided
Conflicting Classifications

rs_759047530

3 SubmittersRCV001332437 RCV002476549 RCV003759046

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

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

Criteria Provided
Conflicting Classifications

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

rs_2151316542

2 SubmittersRCV001377314 RCV002504629

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

rs_2151304304

1 SubmittersRCV001563617

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

SNV
Germline

Chr16:3729211

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1321085895

5 SubmittersRCV001578063 RCV002359190 RCV002568505 RCV002495924 RCV004743553

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

SNV
Germline

Chr16:3770852

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

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

Criteria Provided
Single Submitter

rs_199821421

1 SubmittersRCV001754541

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

SNV
Germline

Chr16:3773911

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

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

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

rs_2151354104

1 SubmittersRCV001814883

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

SNV
Germline

Chr16:3729253

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
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

rs_749249146

4 SubmittersRCV001839234 RCV002478074 RCV002542829 RCV003976232

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

rs_1596791996

1 SubmittersRCV001842251

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

Criteria Provided
Conflicting Classifications

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

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

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

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

rs_928061320

1 SubmittersRCV002226996

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

SNV
Germline

Chr16:3731195

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

rs_146718571

1 SubmittersRCV002249840

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

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

rs_370689343

2 SubmittersRCV002266677 RCV003096046

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

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

1 SubmittersRCV002470191

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

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

3 SubmittersRCV003136570 RCV004594680

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

SNV
Unknown

Chr16:3728878

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

1 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

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

1 SubmittersRCV003315205

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

SNV
Germline

Chr16:3778818

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

1 SubmittersRCV003388801

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

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

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.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

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

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