Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004380.3(CREBBP):c.406C>T (p.Gln136Ter)	SNV Germline	Chr16:3850689	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA254809	rs_121434624	2 SubmittersRCV000010035
NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter)	SNV Germline	Chr16:3793533	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA254811	rs_121434625	2 SubmittersRCV000010036
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro)	SNV Germline	Chr16:3740399	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations CREBBP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA254813	rs_121434626	3 SubmittersRCV000010037 RCV005249986
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)	SNV Germline	Chr16:3757894	Pathogenic/Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA254814	rs_28937315	5 SubmittersRCV000010039 RCV004609293
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)	SNV Germline	Chr16:3749631	Pathogenic/Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided Intellectual disability Inborn genetic diseases Abnormality of the nervous system 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 RCV001260694 RCV001267080 RCV001813970 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	CA394566898	rs_1567277287	1 SubmittersRCV000010041
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=)	SNV Germline	Chr16:3793453	Conflicting classifications of pathogenicity	not specified Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome Condition: not provided Inborn genetic diseases CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA148108	rs_61759495	7 SubmittersRCV000081028 RCV000145712 RCV000872923 RCV001610371 RCV002311602 RCV003974969
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val)	SNV Germline	Chr16:3782888	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA222672	rs_369459749	6 SubmittersRCV000081029 RCV002265601 RCV002381401 RCV002514423 RCV004742248
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile)	SNV Germline	Chr16:3781229	Conflicting classifications of pathogenicity	not specified Rubinstein-Taybi syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA248673	rs_61753381	10 SubmittersRCV000081031 RCV000550437 RCV000426201 RCV002311603
NM_004380.3(CREBBP):c.2034C>T (p.Ile678=)	SNV Germline	Chr16:3778090	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA222679	rs_398124141	2 SubmittersRCV000081035 RCV005089548
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg)	SNV Germline	Chr16:3773902	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Inborn genetic diseases CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA222683	rs_147805823	6 SubmittersRCV000081037 RCV001854429 RCV002477232 RCV002514426 RCV003974970
NM_004380.3(CREBBP):c.2415G>A (p.Ala805=)	SNV Germline	Chr16:3773799	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA222685	rs_368664039	4 SubmittersRCV000081038 RCV002514427 RCV003964929
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=)	SNV Germline	Chr16:3770639	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome not specified Inborn genetic diseases CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA222687	rs_146168040	9 SubmittersRCV000081041 RCV001085008 RCV001815180 RCV002311605 RCV003974971
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr)	SNV Germline	Chr16:3769284	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA222689	rs_140406003	4 SubmittersRCV000081043 RCV002433589 RCV002515776 RCV003935049
NM_004380.3(CREBBP):c.3060+10G>A	SNV Germline	Chr16:3769164	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA222691	rs_398124143	3 SubmittersRCV000081046 RCV002055190 RCV003925063
NM_004380.3(CREBBP):c.3337C>T (p.Gln1113Ter)	SNV Germline	Chr16:3758886	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA222692	rs_398124144	1 SubmittersRCV000081048
NM_004380.3(CREBBP):c.3982+1G>A	SNV Germline	Chr16:3744893	Pathogenic	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA222694	rs_398124145	2 SubmittersRCV000081051 RCV000499536
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)	SNV Germline/somatic	Chr16:3738617	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome Neoplasm	Criteria Provided Conflicting Classifications	CA222695	rs_398124146	5 SubmittersRCV000081052 RCV000700948 RCV002228327 RCV004668773
NM_004380.3(CREBBP):c.4481C>G (p.Pro1494Arg)	SNV Germline	Chr16:3736729	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA222697	rs_398124147	1 SubmittersRCV000081053
NM_004380.3(CREBBP):c.504G>A (p.Thr168=)	SNV Germline	Chr16:3850591	Conflicting classifications of pathogenicity	Condition: not provided CREBBP-related disorder Rubinstein-Taybi syndrome not specified	Criteria Provided Conflicting Classifications	CA222699	rs_373310969	4 SubmittersRCV000081056 RCV003894939 RCV002514428 RCV004782050
NM_004380.3(CREBBP):c.5361C>T (p.Asn1787=)	SNV Germline	Chr16:3729686	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA222701	rs_375462934	4 SubmittersRCV000081058 RCV002514429 RCV003945015
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr)	SNV Germline	Chr16:3729328	Conflicting classifications of pathogenicity	not specified Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided Rubinstein-Taybi syndrome Inborn genetic diseases CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA248675	rs_199990883	13 SubmittersRCV000081061 RCV000145767 RCV000224624 RCV001085724 RCV002311611 RCV003982877
NM_004380.3(CREBBP):c.3611A>T (p.Tyr1204Phe)	SNV Germline	Chr16:3757375	Conflicting classifications of pathogenicity	not specified Condition: not provided Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA158176	rs_200346970	3 SubmittersRCV000120596 RCV001567118 RCV002515831
NM_004380.3(CREBBP):c.6524A>G (p.Asn2175Ser)	SNV Germline	Chr16:3728523	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases CREBBP-related disorder Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA158193	rs_587778214	4 SubmittersRCV000120605 RCV002316343 RCV003398725 RCV005089596
NM_004380.3(CREBBP):c.6956A>T (p.His2319Leu)	SNV Germline	Chr16:3728091	Conflicting classifications of pathogenicity	not specified Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA158195	rs_587778215	4 SubmittersRCV000120606 RCV002515834 RCV003415910 RCV005016410
NM_004380.3(CREBBP):c.6658G>A (p.Gly2220Ser)	SNV Germline	Chr16:3728389	Conflicting classifications of pathogenicity	not specified Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA158199	rs_141184151	4 SubmittersRCV000120608 RCV002514628 RCV004742264 RCV005016411
NM_004380.3(CREBBP):c.1514C>T (p.Pro505Leu)	SNV Germline	Chr16:3782743	Conflicting classifications of pathogenicity	not specified Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA158201	rs_369550568	4 SubmittersRCV000120609 RCV002515836 RCV003952591 RCV005016412
NM_004380.3(CREBBP):c.7040C>T (p.Ala2347Val)	SNV Germline	Chr16:3728007	Conflicting classifications of pathogenicity	not specified Rubinstein-Taybi syndrome Inborn genetic diseases Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Hearing impairment	Criteria Provided Conflicting Classifications	CA171806	rs_182347573	5 SubmittersRCV000145780 RCV003593919 RCV004975296 RCV005016465 RCV005625317
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu)	SNV Germline	Chr16:3728598	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA271440	rs_587783512	5 SubmittersRCV000145778 RCV003456371 RCV002492531 RCV003758698 RCV003390831
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=)	SNV Germline	Chr16:3728957	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA171802	rs_374969185	6 SubmittersRCV000145776 RCV000724357 RCV002354333 RCV002055884 RCV003905261
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.5829G>A (p.Pro1943=)	SNV Germline	Chr16:3729218	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA171800	rs_546554430	7 SubmittersRCV000145770 RCV000723897 RCV002316927 RCV002055883 RCV003965101
NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter)	SNV Germline	Chr16:3729226	Pathogenic/Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA271429	rs_587783505	2 SubmittersRCV000145769 RCV004796043
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro)	SNV Germline	Chr16:3729247	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided Rubinstein-Taybi syndrome Tip-toe gait Inborn genetic diseases CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA243769	rs_587783504	8 SubmittersRCV000145768 RCV000177560 RCV001087896 RCV002221200 RCV002354332 RCV003935243
NM_004380.3(CREBBP):c.5050T>C (p.Ser1684Pro)	SNV Germline	Chr16:3731314	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271427	rs_587783503	1 SubmittersRCV000145765
NM_004380.3(CREBBP):c.4508A>G (p.Tyr1503Cys)	SNV Germline	Chr16:3736702	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271419	rs_587783497	1 SubmittersRCV000145757
NM_004380.3(CREBBP):c.4445A>G (p.Tyr1482Cys)	SNV Germline	Chr16:3736765	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271417	rs_587783496	1 SubmittersRCV000145756
NM_004380.3(CREBBP):c.4444T>G (p.Tyr1482Asp)	SNV Germline	Chr16:3736766	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271415	rs_587783495	1 SubmittersRCV000145755
NM_004380.3(CREBBP):c.4398T>A (p.Tyr1466Ter)	SNV Germline	Chr16:3736812	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271413	rs_147688139	1 SubmittersRCV000145754
NM_004380.3(CREBBP):c.4376A>G (p.Glu1459Gly)	SNV Germline	Chr16:3738577	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271411	rs_587783494	1 SubmittersRCV000145753
NM_004380.3(CREBBP):c.4281-11C>G	SNV Germline	Chr16:3738683	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271410	rs_587783493	1 SubmittersRCV000145752
NM_004380.3(CREBBP):c.4280+8T>C	SNV Germline	Chr16:3739570	Conflicting classifications of pathogenicity	not specified Condition: not provided Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA171794	rs_376814421	6 SubmittersRCV000145751 RCV000724245 RCV002055881 RCV003935242
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 Rubinstein-Taybi syndrome	Criteria Provided Multiple Submitters No Conflicts	CA271393	rs_587783483	10 SubmittersRCV000145739 RCV000255068 RCV001260696 RCV002498664 RCV005089678
NM_004380.3(CREBBP):c.3613G>T (p.Glu1205Ter)	SNV Germline	Chr16:3757373	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271391	rs_587783482	1 SubmittersRCV000145738
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys)	SNV Germline	Chr16:3757918	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA271389	rs_587783481	4 SubmittersRCV000145737 RCV002228523 RCV003895028
NM_004380.3(CREBBP):c.3369+1G>T	SNV Germline	Chr16:3758853	Pathogenic/Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA271388	rs_587783480	3 SubmittersRCV000145736 RCV001268616
NM_004380.3(CREBBP):c.3310C>T (p.Gln1104Ter)	SNV Germline	Chr16:3758913	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271386	rs_587783479	1 SubmittersRCV000145735
NM_004380.3(CREBBP):c.2791C>T (p.Gln931Ter)	SNV Germline	Chr16:3770659	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271379	rs_587783475	1 SubmittersRCV000145730
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=)	SNV Germline	Chr16:3770771	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome not specified	Criteria Provided Conflicting Classifications	CA271377	rs_587783474	3 SubmittersRCV000145727 RCV003593917 RCV005434655
NM_004380.3(CREBBP):c.2535C>A (p.Cys845Ter)	SNV Germline	Chr16:3770915	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271372	rs_587783471	1 SubmittersRCV000145724
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter)	SNV Germline	Chr16:3792041	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA271362	rs_587783464	5 SubmittersRCV000145716 RCV001824287
NM_004380.3(CREBBP):c.1257G>A (p.Trp419Ter)	SNV Germline	Chr16:3792054	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271360	rs_587783463	1 SubmittersRCV000145715
NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter)	SNV Germline	Chr16:3793446	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271358	rs_587783461	2 SubmittersRCV000145713
NM_004380.3(CREBBP):c.1063C>T (p.Gln355Ter)	SNV Germline	Chr16:3793539	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA271356	rs_587783460	2 SubmittersRCV000145711 RCV004589637
NM_004380.3(CREBBP):c.953C>A (p.Ser318Ter)	SNV Germline	Chr16:3810625	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Multiple Submitters No Conflicts	CA271443	rs_587783516	2 SubmittersRCV000145784 RCV005089681
NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter)	SNV Germline	Chr16:3850497	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations CREBBP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA271434	rs_587783509	3 SubmittersRCV000145774 RCV004724925
NM_004380.3(CREBBP):c.316C>T (p.Gln106Ter)	SNV Germline	Chr16:3850779	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271384	rs_587783478	1 SubmittersRCV000145734
NM_004380.3(CREBBP):c.286C>T (p.Gln96Ter)	SNV Germline	Chr16:3850809	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271381	rs_587783476	1 SubmittersRCV000145732
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser)	SNV Germline	Chr16:3850931	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome not specified	Criteria Provided Conflicting Classifications	CA271365	rs_587783466	4 SubmittersRCV000145718 RCV002478406 RCV003764886 RCV005434654
NM_004380.3(CREBBP):c.86-2A>C	SNV Germline	Chr16:3851011	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271442	rs_587783515	1 SubmittersRCV000145783
NM_004380.3(CREBBP):c.37A>G (p.Lys13Glu)	SNV Germline	Chr16:3879880	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA271394	rs_587783484	1 SubmittersRCV000145740
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser)	SNV Germline	Chr16:3780823	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA233869	rs_148023511	5 SubmittersRCV000153119 RCV000764070 RCV002316965 RCV003105799 RCV004742280
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=)	SNV Germline	Chr16:3770600	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome Inborn genetic diseases CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA233865	rs_141651423	5 SubmittersRCV000153117 RCV001078500 RCV002433668 RCV003937420
NM_004380.3(CREBBP):c.2526G>A (p.Gln842=)	SNV Germline	Chr16:3770924	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA233867	rs_141775567	4 SubmittersRCV000153118 RCV002514951 RCV003917495
NM_004380.3(CREBBP):c.252A>G (p.Pro84=)	SNV Germline	Chr16:3850843	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA233871	rs_727503893	2 SubmittersRCV000153121 RCV003758699
NM_004380.3(CREBBP):c.4890+2T>C	SNV Germline	Chr16:3731774	Likely pathogenic	Condition: not provided CREBBP-related disorder	Criteria Provided Single Submitter	CA235946	rs_786205495	2 SubmittersRCV000171243 RCV003982920
NM_004380.3(CREBBP):c.3089C>T (p.Ser1030Phe)	SNV Germline	Chr16:3767881	Conflicting classifications of pathogenicity	Condition: not provided CREBBP-related disorder Inborn genetic diseases Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA240724	rs_757051244	4 SubmittersRCV000175058 RCV003407645 RCV002312710 RCV002516659
NM_004380.3(CREBBP):c.711C>T (p.Ser237=)	SNV Germline	Chr16:3850384	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA241539	rs_146049063	4 SubmittersRCV000175775 RCV002516688 RCV003917630
NM_004380.3(CREBBP):c.4133+4A>G	SNV Germline	Chr16:3740395	Conflicting classifications of pathogenicity	not specified Rubinstein-Taybi syndrome Condition: not provided Inborn genetic diseases CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA201953	rs_372126168	6 SubmittersRCV000176481 RCV000951517 RCV001640269 RCV002326963 RCV003927626
NM_004380.3(CREBBP):c.4729-14G>A	SNV Germline	Chr16:3731951	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA243043	rs_130008	3 SubmittersRCV000176937 RCV002054084
NM_004380.3(CREBBP):c.6746G>A (p.Arg2249His)	SNV Germline	Chr16:3728301	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA243761	rs_794727551	2 SubmittersRCV000177556 RCV003758712
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 Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Conflicting Classifications	CA243767	rs_557611780	6 SubmittersRCV000177559 RCV003416090 RCV003593928 RCV005016521 RCV004799188
NM_004380.3(CREBBP):c.1275T>C (p.His425=)	SNV Germline	Chr16:3792036	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA246083	rs_758886547	4 SubmittersRCV000178892 RCV002372098 RCV002517745 RCV003947522
NM_004380.3(CREBBP):c.4409A>G (p.His1470Arg)	SNV Germline	Chr16:3736801	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA204617	rs_797044860	1 SubmittersRCV000190664
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 Intellectual disability Menke-Hennekam syndrome 1 Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA276136	rs_797045037	8 SubmittersRCV000191076 RCV000523539 RCV001260745 RCV000757968 RCV003458352 RCV002517032 RCV003422092
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.1331-12T>C	SNV Germline	Chr16:3782938	Conflicting classifications of pathogenicity	not specified Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA206935	rs_779542354	2 SubmittersRCV000193439 RCV002517925
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.5615T>C (p.Met1872Thr)	SNV Germline	Chr16:3729432	Pathogenic/Likely pathogenic	not specified Condition: not provided Rubinstein-Taybi syndrome Menke-Hennekam syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10586027	rs_879255381	5 SubmittersRCV000238672 RCV005230182 RCV002518519 RCV002290966
NM_004380.3(CREBBP):c.6010C>T (p.Arg2004Ter)	SNV Germline	Chr16:3729037	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10588617	rs_886039331	1 SubmittersRCV000256029
NM_004380.3(CREBBP):c.5602C>T (p.Arg1868Trp)	SNV Germline	Chr16:3729445	Pathogenic	Condition: not provided Menke-Hennekam syndrome Menke-Hennekam syndrome 1 See cases	Criteria Provided Multiple Submitters No Conflicts	CA10588618	rs_886039491	8 SubmittersRCV000254930 RCV002282094 RCV000757967 RCV003156089
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.3609+1G>A	SNV Germline	Chr16:3757808	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA10603394	rs_886041879	1 SubmittersRCV000326675
NM_004380.3(CREBBP):c.2977C>T (p.Pro993Ser)	SNV Germline	Chr16:3769257	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA10604228	rs_886042430	2 SubmittersRCV000362295 RCV003758743
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=)	SNV Germline	Chr16:3728369	Conflicting classifications of pathogenicity	Condition: not provided CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869029	rs_750845399	5 SubmittersRCV000341039 RCV003939977 RCV002487207 RCV002521902
NM_004380.3(CREBBP):c.423T>G (p.Ser141=)	SNV Germline	Chr16:3850672	Conflicting classifications of pathogenicity	Condition: not provided CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7870678	rs_760605470	3 SubmittersRCV000310525 RCV003947876
NM_004380.3(CREBBP):c.5334G>A (p.Ser1778=)	SNV Germline	Chr16:3729713	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869292	rs_201062642	2 SubmittersRCV000401568 RCV002519272
NM_004380.3(CREBBP):c.1100G>T (p.Cys367Phe)	SNV Germline	Chr16:3793502	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16042987	rs_1057518498	1 SubmittersRCV000414631
NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter)	SNV Germline	Chr16:3728803	Pathogenic	Scoliosis Global developmental delay Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA16043513	rs_1057518789	3 SubmittersRCV000414795 RCV000760803 RCV003326423
NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys)	SNV Germline	Chr16:3757288	Pathogenic/Likely pathogenic	Thumb deformity Glaucoma Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16043514	rs_1057518844	2 SubmittersRCV000415361 RCV001198296 RCV005090685
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His)	SNV Germline	Chr16:3738616	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA16602826	rs_1057519884	1 SubmittersRCV004594056
NM_004380.3(CREBBP):c.4520T>C (p.Leu1507Pro)	SNV Germline	Chr16:3736690	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16603336	rs_1057520191	1 SubmittersRCV000419060
NM_004380.3(CREBBP):c.2659C>T (p.Gln887Ter)	SNV Germline	Chr16:3770791	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16607300	rs_1057520589	1 SubmittersRCV000434050
NM_004380.3(CREBBP):c.5323T>C (p.Cys1775Arg)	SNV Germline	Chr16:3729724	Conflicting classifications of pathogenicity	Condition: not provided Menke-Hennekam syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA16607414	rs_1057524802	3 SubmittersRCV000443507 RCV004022526 RCV004975509
NM_004380.3(CREBBP):c.3889C>T (p.His1297Tyr)	SNV Germline	Chr16:3745302	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA16608188	rs_1057521558	2 SubmittersRCV000421287 RCV002510889
NM_004380.3(CREBBP):c.2302C>T (p.Arg768Ter)	SNV Germline	Chr16:3773912	Pathogenic	Condition: not provided Rubinstein-Taybi syndrome Congenital heart anomalies	Criteria Provided Multiple Submitters No Conflicts	CA16608189	rs_1057520652	3 SubmittersRCV000431043 RCV001851047 RCV005238988
NM_004380.3(CREBBP):c.6988C>T (p.Leu2330Phe)	SNV Germline	Chr16:3728059	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16620193	rs_1064796531	1 SubmittersRCV000480206
NM_004380.3(CREBBP):c.5570A>C (p.His1857Pro)	SNV Germline	Chr16:3729477	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16620198	rs_1064795628	1 SubmittersRCV000487189
NM_004380.3(CREBBP):c.5366A>C (p.Asn1789Thr)	SNV Germline	Chr16:3729681	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16620199	rs_1064794963	1 SubmittersRCV000483574
NM_004380.3(CREBBP):c.5362G>A (p.Ala1788Thr)	SNV Germline	Chr16:3729685	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16620200	rs_1064795794	1 SubmittersRCV000486381
NM_004380.3(CREBBP):c.5336T>C (p.Leu1779Pro)	SNV Germline	Chr16:3729711	Pathogenic/Likely pathogenic	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA16620201	rs_1064796457	2 SubmittersRCV000483007 RCV005222963
NM_004380.3(CREBBP):c.5204C>T (p.Thr1735Met)	SNV Germline	Chr16:3729843	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA16620202	rs_1064793090	4 SubmittersRCV000480754 RCV002341123 RCV002525758 RCV004742443
NM_004380.3(CREBBP):c.5120G>C (p.Cys1707Ser)	SNV Germline	Chr16:3731244	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16620203	rs_1064795089	1 SubmittersRCV000486926
NM_004380.3(CREBBP):c.4358T>C (p.Ile1453Thr)	SNV Germline	Chr16:3738595	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16620204	rs_1064795050	1 SubmittersRCV000482966
NM_004380.3(CREBBP):c.4184C>A (p.Ala1395Asp)	SNV Germline	Chr16:3739674	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16620205	rs_1064796948	1 SubmittersRCV000485827
NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln)	SNV Germline	Chr16:3729447	Pathogenic/Likely pathogenic	Condition: not provided Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome	Criteria Provided Multiple Submitters No Conflicts	CA394555929	rs_1131691326	6 SubmittersRCV000493961 RCV000757966 RCV003758800
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.5551C>T (p.Arg1851Cys)	SNV Germline	Chr16:3729496	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7869272	rs_763253161	2 SubmittersRCV000497928 RCV001265899
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 Rubinstein-Taybi syndrome Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Conflicting Classifications	CA7868947	rs_746116315	3 SubmittersRCV000513559 RCV002524961 RCV002490864
NM_004380.3(CREBBP):c.6516C>T (p.Asn2172=)	SNV Germline	Chr16:3728531	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA7869092	rs_763852812	3 SubmittersRCV000512952 RCV002316453 RCV003987574
NM_004380.3(CREBBP):c.3743A>T (p.Asn1248Ile)	SNV Germline	Chr16:3751762	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA394568038	rs_1555476935	1 SubmittersRCV000523682
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 CREBBP-related disorder Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Conflicting Classifications	CA7869187	rs_745551441	4 SubmittersRCV002231255 RCV002316527 RCV003403260 RCV002497075
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_004380.3(CREBBP):c.2071C>T (p.Gln691Ter)	SNV Germline	Chr16:3778053	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA394554404	rs_1555483689	1 SubmittersRCV000578585
NM_004380.3(CREBBP):c.4509C>G (p.Tyr1503Ter)	SNV Germline	Chr16:3736701	Pathogenic	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA394563542	rs_1555473105	2 SubmittersRCV000598406 RCV005231144
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu)	SNV Germline	Chr16:3728386	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases CREBBP-related disorder Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869032	rs_200716582	8 SubmittersRCV000591355 RCV002368012 RCV003915709 RCV001486605
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser)	SNV Germline	Chr16:3728707	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome Inborn genetic diseases CREBBP-related disorder Intellectual disability	Criteria Provided Conflicting Classifications	CA7869138	rs_139169188	6 SubmittersRCV000595375 RCV001485598 RCV002317338 RCV003927923 RCV005625698
NM_004380.3(CREBBP):c.3982+10G>A	SNV Germline	Chr16:3744884	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7869651	rs_370093745	3 SubmittersRCV000591066 RCV002532525 RCV003927927
NM_004380.3(CREBBP):c.2570C>T (p.Pro857Leu)	SNV Germline	Chr16:3770880	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7870076	rs_766086544	2 SubmittersRCV000593529 RCV001860192
NM_004380.3(CREBBP):c.3929A>G (p.Asn1310Ser)	SNV Germline	Chr16:3744947	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869658	rs_558051943	2 SubmittersRCV000595365 RCV002532590
NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser)	SNV Germline	Chr16:3729681	Conflicting classifications of pathogenicity	Inborn genetic diseases Menke-Hennekam syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA394557043	rs_1064794963	5 SubmittersRCV000623665 RCV001027717 RCV003231542
NM_004380.3(CREBBP):c.5361C>A (p.Asn1787Lys)	SNV Germline	Chr16:3729686	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA394557053	rs_375462934	1 SubmittersRCV000623640
NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys)	SNV Germline	Chr16:3729691	Pathogenic/Likely pathogenic	Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA394557062	rs_1555471394	4 SubmittersRCV000622375 RCV000782092
NM_004380.3(CREBBP):c.5129G>A (p.Cys1710Tyr)	SNV Germline	Chr16:3731235	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA394558168	rs_1555471813	1 SubmittersRCV000624708
NM_004380.3(CREBBP):c.4348T>C (p.Tyr1450His)	SNV Germline	Chr16:3738605	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA394564396	rs_1555473499	1 SubmittersRCV000623013
NM_004380.3(CREBBP):c.3955C>T (p.Arg1319Ter)	SNV Germline	Chr16:3744921	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA394566577	rs_1555475250	1 SubmittersRCV000624459
NM_004380.3(CREBBP):c.5014A>T (p.Arg1672Ter)	SNV Germline	Chr16:3731350	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394558691	rs_1555471874	1 SubmittersRCV002233937
NM_004380.3(CREBBP):c.4663G>T (p.Glu1555Ter)	SNV Germline	Chr16:3736101	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394562323	rs_1555472931	1 SubmittersRCV002234418
NM_004380.3(CREBBP):c.3985C>T (p.Leu1329=)	SNV Germline	Chr16:3740547	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Condition: not provided Inborn genetic diseases CREBBP-related disorder not specified	Criteria Provided Conflicting Classifications	CA7869634	rs_149055008	6 SubmittersRCV001082892 RCV000729898 RCV002358773 RCV003905696 RCV005435077
NM_004380.3(CREBBP):c.4394G>A (p.Gly1465Glu)	SNV Germline	Chr16:3738559	Pathogenic	Rubinstein-Taybi syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA394564268	rs_1555473491	2 SubmittersRCV000633000 RCV002260958
NM_004380.3(CREBBP):c.1941+1G>A	SNV Germline	Chr16:3778699	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394555078	rs_1555483834	1 SubmittersRCV002234417
NM_004380.3(CREBBP):c.5905C>T (p.Gln1969Ter)	SNV Germline	Chr16:3729142	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394555031	rs_1567262537	2 SubmittersRCV000754905
NM_004380.3(CREBBP):c.4660A>T (p.Lys1554Ter)	SNV Germline	Chr16:3736104	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394562360	rs_1567269316	1 SubmittersRCV000754903
NM_004380.3(CREBBP):c.1941+1G>T	SNV Germline	Chr16:3778699	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394555076	rs_1555483834	1 SubmittersRCV000754898
NM_004380.3(CREBBP):c.271G>T (p.Ala91Ser)	SNV Germline	Chr16:3850824	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7870710	rs_200673670	3 SubmittersRCV000658735 RCV001198613 RCV003594013
NM_004380.3(CREBBP):c.3061-1G>T	SNV Germline	Chr16:3767910	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394571150	rs_1555481030	1 SubmittersRCV000661965
NM_004380.3(CREBBP):c.3836+1G>C	SNV Germline	Chr16:3749626	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394567289	rs_200782888	1 SubmittersRCV002232872
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln)	SNV Germline	Chr16:3729210	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Inborn genetic diseases CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7869240	rs_765600316	4 SubmittersRCV002233339 RCV002352188 RCV003420244 RCV002485719
NM_004380.3(CREBBP):c.7162G>A (p.Ala2388Thr)	SNV Germline	Chr16:3727885	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA7868942	rs_756011865	3 SubmittersRCV000714678 RCV002369985 RCV004689865
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met)	SNV Germline	Chr16:3729307	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869250	rs_760771706	3 SubmittersRCV000714851 RCV002477653 RCV002532980
NM_004380.3(CREBBP):c.2063C>T (p.Pro688Leu)	SNV Germline	Chr16:3778061	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Inborn genetic diseases CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7870284	rs_375125948	3 SubmittersRCV005092085 RCV002315462 RCV004742593
NM_004380.3(CREBBP):c.5666C>T (p.Pro1889Leu)	SNV Germline	Chr16:3729381	Conflicting classifications of pathogenicity	Inborn genetic diseases CREBBP-related disorder Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869261	rs_143180774	3 SubmittersRCV002315455 RCV003420279 RCV003594022
NM_004380.3(CREBBP):c.4493G>A (p.Arg1498Gln)	SNV Germline	Chr16:3736717	Likely pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA394563635	rs_1567269945	1 SubmittersRCV002316912
NM_004380.3(CREBBP):c.5344G>A (p.Ala1782Thr)	SNV Germline	Chr16:3729703	Likely pathogenic	Condition: not provided Menke-Hennekam syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA394557094	rs_1567263529	5 SubmittersRCV000722632 RCV001027872
NM_004380.3(CREBBP):c.4674A>G (p.Gln1558=)	SNV Germline	Chr16:3736090	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869470	rs_770241645	2 SubmittersRCV000729324 RCV003117524
NM_004380.3(CREBBP):c.6006G>T (p.Val2002=)	SNV Germline	Chr16:3729041	Conflicting classifications of pathogenicity	Condition: not provided CREBBP-related disorder Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869200	rs_768100377	3 SubmittersRCV000731540 RCV003947932 RCV003758919
NM_004380.3(CREBBP):c.6228G>A (p.Ser2076=)	SNV Germline	Chr16:3728819	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869154	rs_759497776	2 SubmittersRCV000731846 RCV003594023
NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg)	SNV Germline	Chr16:3782737	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870442	rs_766320521	4 SubmittersRCV000731898 RCV001868968 RCV004742619 RCV002485905
NM_004380.3(CREBBP):c.2943A>G (p.Ala981=)	SNV Germline	Chr16:3769291	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA276968333	rs_1053049323	3 SubmittersRCV000734493 RCV003758921 RCV003892674
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)	SNV Germline	Chr16:3729444	Pathogenic/Likely pathogenic	Condition: not provided Rubinstein-Taybi syndrome	Criteria Provided Multiple Submitters No Conflicts	CA394555924	rs_1567263168	5 SubmittersRCV000782063 RCV002535428
NM_004380.3(CREBBP):c.5128T>C (p.Cys1710Arg)	SNV Germline	Chr16:3731236	Pathogenic	Menke-Hennekam syndrome 1	No Assertion Criteria Provided	CA394558172	rs_1567265203	1 SubmittersRCV000757965
NM_004380.3(CREBBP):c.5170G>A (p.Glu1724Lys)	SNV Germline	Chr16:3731194	Pathogenic	Menke-Hennekam syndrome 1 Condition: not provided	Criteria Provided Single Submitter	CA394557994	rs_1567265131	2 SubmittersRCV000757969 RCV003317356
NM_004380.3(CREBBP):c.5638C>T (p.Gln1880Ter)	SNV Germline	Chr16:3729409	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Multiple Submitters No Conflicts	CA394555848	rs_2151309318	2 SubmittersRCV003147541 RCV003594027
NM_004380.3(CREBBP):c.3512C>G (p.Thr1171Arg)	SNV Germline	Chr16:3757906	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394568761	rs_1567287477	1 SubmittersRCV000760233
NM_004380.3(CREBBP):c.907A>G (p.Met303Val)	SNV Germline	Chr16:3810671	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA394565979	rs_1567331335	3 SubmittersRCV000762185 RCV002533895 RCV004742633
NM_004380.3(CREBBP):c.5219A>G (p.His1740Arg)	SNV Germline	Chr16:3729828	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA394557633	rs_1567263724	2 SubmittersRCV000782042
NM_004380.3(CREBBP):c.4672C>T (p.Gln1558Ter)	SNV Germline	Chr16:3736092	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394562242	rs_778375586	1 SubmittersRCV000806116
NM_004380.3(CREBBP):c.4559A>G (p.Lys1520Arg)	SNV Germline	Chr16:3736651	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394563244	rs_1596805575	1 SubmittersRCV000799589
NM_004380.3(CREBBP):c.2755C>T (p.Gln919Ter)	SNV Germline	Chr16:3770695	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394550904	rs_1596886183	1 SubmittersRCV000804679
NM_004380.3(CREBBP):c.3369+1G>A	SNV Germline	Chr16:3758853	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394569418	rs_587783480	1 SubmittersRCV000822242
NM_004380.3(CREBBP):c.85+1G>A	SNV Unknown	Chr16:3879831	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394567664	rs_1597099388	1 SubmittersRCV000850371
NM_004380.3(CREBBP):c.6436C>T (p.Gln2146Ter)	SNV Unknown	Chr16:3728611	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394552732	rs_1596783639	1 SubmittersRCV000856797
NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His)	SNV Germline	Chr16:3731373	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA394558748	rs_1596791996	3 SubmittersRCV000856923 RCV001784472 RCV005021267
NM_004380.3(CREBBP):c.4613C>T (p.Pro1538Leu)	SNV Germline	Chr16:3736151	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394562714	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	CA394563830	rs_1596805792	1 SubmittersRCV000856917
NM_004380.3(CREBBP):c.4417G>A (p.Ala1473Thr)	SNV Unknown	Chr16:3736793	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394564004	rs_1596805927	1 SubmittersRCV000856883
NM_004380.3(CREBBP):c.4303G>T (p.Asp1435Tyr)	SNV Germline	Chr16:3738650	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394564563	rs_1596810419	1 SubmittersRCV000856881
NM_004380.3(CREBBP):c.4297T>C (p.Tyr1433His)	SNV Germline	Chr16:3738656	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394564588	rs_1596810435	1 SubmittersRCV000856880
NM_004380.3(CREBBP):c.4290C>A (p.Tyr1430Ter)	SNV Unknown	Chr16:3738663	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394564613	rs_1596810465	1 SubmittersRCV000856879
NM_004380.3(CREBBP):c.4283G>C (p.Arg1428Pro)	SNV Germline	Chr16:3738670	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394564635	rs_778448390	1 SubmittersRCV000856878
NM_004380.3(CREBBP):c.4277C>G (p.Thr1426Arg)	SNV Germline	Chr16:3739581	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394564684	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	CA394564758	rs_1596812202	1 SubmittersRCV000856875
NM_004380.3(CREBBP):c.4175G>T (p.Arg1392Leu)	SNV Unknown	Chr16:3739683	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394564911	rs_1596812290	1 SubmittersRCV000856874
NM_004380.3(CREBBP):c.4174C>T (p.Arg1392Ter)	SNV Germline	Chr16:3739684	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394564914	rs_1596812306	2 SubmittersRCV000856873
NM_004380.3(CREBBP):c.4145C>T (p.Ser1382Phe)	SNV Germline	Chr16:3739713	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA276982550	rs_149877180	1 SubmittersRCV000856872
NM_004380.3(CREBBP):c.4040G>C (p.Arg1347Pro)	SNV Unknown	Chr16:3740492	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394565397	rs_1596813665	1 SubmittersRCV000856870
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr)	SNV Germline	Chr16:3751786	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA394568097	rs_1596839714	3 SubmittersRCV000856912 RCV001858527
NM_004380.3(CREBBP):c.3690T>G (p.Tyr1230Ter)	SNV Unknown	Chr16:3757296	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394568316	rs_748451307	1 SubmittersRCV000856910
NM_004380.3(CREBBP):c.3625C>T (p.Gln1209Ter)	SNV Germline	Chr16:3757361	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases	Criteria Provided Single Submitter	CA394568487	rs_1596852578	2 SubmittersRCV000856907 RCV002453935
NM_004380.3(CREBBP):c.3535A>G (p.Ser1179Gly)	SNV Germline	Chr16:3757883	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394568709	rs_1596854023	1 SubmittersRCV000856904
NM_004380.3(CREBBP):c.3097A>T (p.Lys1033Ter)	SNV Unknown	Chr16:3767873	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394571000	rs_1596878921	1 SubmittersRCV000856864
NM_004380.3(CREBBP):c.3058G>T (p.Glu1020Ter)	SNV Unknown	Chr16:3769176	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394549571	rs_1596882010	1 SubmittersRCV000856862
NM_004380.3(CREBBP):c.2911A>T (p.Arg971Ter)	SNV Unknown	Chr16:3769323	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394549875	rs_1374436403	1 SubmittersRCV000856860
NM_004380.3(CREBBP):c.2773C>T (p.Gln925Ter)	SNV Unknown	Chr16:3770677	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394550831	rs_1596886132	1 SubmittersRCV000856855
NM_004380.3(CREBBP):c.1801C>T (p.Arg601Trp)	SNV Germline	Chr16:3780754	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394556374	rs_1354934373	1 SubmittersRCV000856895
NM_004380.3(CREBBP):c.1646C>G (p.Ser549Ter)	SNV Unknown	Chr16:3781234	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394556829	rs_1596917200	1 SubmittersRCV000856894
NM_004380.3(CREBBP):c.1549C>T (p.Gln517Ter)	SNV Germline	Chr16:3782708	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394557216	rs_1596920501	2 SubmittersRCV000856892 RCV001234331
NM_004380.3(CREBBP):c.1483C>T (p.Gln495Ter)	SNV Germline	Chr16:3782774	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided	Criteria Provided Single Submitter	CA394557519	rs_1596920745	2 SubmittersRCV000856891 RCV005436190
NM_004380.3(CREBBP):c.1108C>T (p.Arg370Ter)	SNV Germline	Chr16:3793494	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Corpus callosum, agenesis of Rubinstein-Taybi syndrome	Criteria Provided Multiple Submitters No Conflicts	CA394563096	rs_1384496494	4 SubmittersRCV000856851 RCV001526626 RCV005092540
NM_004380.3(CREBBP):c.997G>T (p.Gly333Ter)	SNV Germline	Chr16:3793605	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394563851	rs_1596948165	1 SubmittersRCV000856849
NM_004380.3(CREBBP):c.613C>T (p.Gln205Ter)	SNV Unknown	Chr16:3850482	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394559969	rs_1597053504	1 SubmittersRCV000856845
NM_004380.3(CREBBP):c.376G>T (p.Gly126Ter)	SNV Germline	Chr16:3850719	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394561364	rs_1597054242	1 SubmittersRCV000856842
NM_004380.3(CREBBP):c.4890+1G>A	SNV Germline	Chr16:3731775	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations CREBBP-related disorder	No Assertion Criteria Provided	CA394559496	rs_1596793242	2 SubmittersRCV000856922 RCV004726706
NM_004380.3(CREBBP):c.3914+1G>A	SNV Germline	Chr16:3745276	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394566709	rs_1555475352	1 SubmittersRCV000856869
NM_004380.3(CREBBP):c.3779+1G>T	SNV Germline	Chr16:3751725	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations CREBBP-related disorder Rubinstein-Taybi syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA394567957	rs_587783483	4 SubmittersRCV000856913 RCV003413671 RCV002536209 RCV004721656
NM_004380.3(CREBBP):c.3610-1G>C	SNV Germline	Chr16:3757377	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394568525	rs_1596852670	1 SubmittersRCV000856905
NM_004380.3(CREBBP):c.3610-2A>G	SNV Unknown	Chr16:3757378	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394568528	rs_1596852674	1 SubmittersRCV000856906
NM_004380.3(CREBBP):c.3060+1G>T	SNV Germline	Chr16:3769173	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394549562	rs_1596882004	1 SubmittersRCV000856863
NM_004380.3(CREBBP):c.2159-1G>T	SNV Unknown	Chr16:3774694	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394553441	rs_1596897799	1 SubmittersRCV000856899
NM_004380.3(CREBBP):c.1941+2T>C	SNV Unknown	Chr16:3778698	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394555073	rs_1596909656	1 SubmittersRCV000856898
NM_004380.3(CREBBP):c.1824-1G>A	SNV Unknown	Chr16:3778818	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394556108	rs_1596910004	1 SubmittersRCV000856896
NM_004380.3(CREBBP):c.1573+1G>A	SNV Unknown	Chr16:3782683	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394557104	rs_1596920360	1 SubmittersRCV000856893
NM_004380.3(CREBBP):c.1216+2T>A	SNV Unknown	Chr16:3793384	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	No Assertion Criteria Provided	CA394562029	rs_1596947522	1 SubmittersRCV000856889
NM_004380.3(CREBBP):c.3841G>A (p.Val1281Ile)	SNV Germline	Chr16:3745350	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7869702	rs_201874248	5 SubmittersRCV000909651 RCV002354741 RCV002540796 RCV003912995
NM_004380.3(CREBBP):c.5188A>G (p.Ile1730Val)	SNV Somatic	Chr16:3729859	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided	CA394557777	rs_1159294530	1 SubmittersRCV000984087
NM_004380.3(CREBBP):c.3982+3A>T	SNV Unknown	Chr16:3744891	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA915949080	rs_1596823180	1 SubmittersRCV000989508
NM_004380.3(CREBBP):c.283G>A (p.Val95Met)	SNV Germline	Chr16:3850812	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7870703	rs_756802946	5 SubmittersRCV000989513 RCV001655658 RCV002550613
NM_004380.3(CREBBP):c.6056G>T (p.Gly2019Val)	SNV Germline	Chr16:3728991	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7869188	rs_771420935	3 SubmittersRCV000996194 RCV003758953 RCV005021307
NM_004380.3(CREBBP):c.5218C>A (p.His1740Asn)	SNV Germline	Chr16:3729829	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA394557640	rs_1596788162	1 SubmittersRCV000996195
NM_004380.3(CREBBP):c.5059T>C (p.Ser1687Pro)	SNV Germline	Chr16:3731305	Likely pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394558453	rs_61731407	1 SubmittersRCV001066810
NM_004380.3(CREBBP):c.4492C>T (p.Arg1498Ter)	SNV Germline	Chr16:3736718	Pathogenic	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA394563638	rs_2052070776	2 SubmittersRCV001055503 RCV005601672
NM_004380.3(CREBBP):c.1360C>T (p.Gln454Ter)	SNV Germline	Chr16:3782897	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394557965	rs_2053306001	1 SubmittersRCV001058497
NM_004380.3(CREBBP):c.1941+5G>A	SNV Germline	Chr16:3778695	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA916083479	rs_2053202354	1 SubmittersRCV001057165
NM_004380.3(CREBBP):c.5186G>C (p.Cys1729Ser)	SNV Germline	Chr16:3729861	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394557784	rs_2051863859	1 SubmittersRCV001089539
NM_004380.3(CREBBP):c.5599C>T (p.Arg1867Trp)	SNV Germline	Chr16:3729448	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA394555930	rs_398124148	2 SubmittersRCV001091530
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	CA394551680	rs_542970560	2 SubmittersRCV001197022 RCV002561049
NM_004380.3(CREBBP):c.2505G>T (p.Met835Ile)	SNV Germline	Chr16:3770945	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 not specified	Criteria Provided Conflicting Classifications	CA7870093	rs_759041100	3 SubmittersRCV001197473 RCV002480647 RCV005437018
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr)	SNV Germline	Chr16:3773794	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA394552855	rs_750178517	3 SubmittersRCV001198921 RCV002560261 RCV002480650
NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp)	SNV Germline	Chr16:3879855	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA394567769	rs_1211983012	2 SubmittersRCV001198521 RCV003759032
NM_004380.3(CREBBP):c.4393G>A (p.Gly1465Arg)	SNV Germline	Chr16:3738560	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA394564271	rs_2052127299	1 SubmittersRCV001200398
NM_004380.3(CREBBP):c.4216G>T (p.Asp1406Tyr)	SNV Germline	Chr16:3739642	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA394564821	rs_2052153254	2 SubmittersRCV001218406 RCV003142166
NM_004380.3(CREBBP):c.2464-6T>A	SNV Germline	Chr16:3770992	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA1139664473	rs_2052993184	1 SubmittersRCV001224110
NM_004380.3(CREBBP):c.5028G>A (p.Trp1676Ter)	SNV Germline	Chr16:3731336	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394558607	rs_2051909999	1 SubmittersRCV001226464
NM_004380.3(CREBBP):c.1823T>C (p.Leu608Pro)	SNV Unknown	Chr16:3780732	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394556274	rs_2053254528	1 SubmittersRCV001249727
NM_004380.3(CREBBP):c.5357G>A (p.Arg1786His)	SNV Germline	Chr16:3729690	Pathogenic/Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA276972266	rs_988251457	2 SubmittersRCV001249612 RCV001847212
NM_004380.3(CREBBP):c.4262G>T (p.Cys1421Phe)	SNV Germline	Chr16:3739596	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394564713	rs_200616542	1 SubmittersRCV001249613
NM_004380.3(CREBBP):c.2438C>T (p.Pro813Leu)	SNV Germline	Chr16:3773776	Conflicting classifications of pathogenicity	Intellectual disability Condition: not provided Rubinstein-Taybi syndrome Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870139	rs_150767375	4 SubmittersRCV001252205 RCV002462884 RCV003759036 RCV003458656
NM_004380.3(CREBBP):c.3779+1G>C	SNV Germline	Chr16:3751725	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394567958	rs_587783483	2 SubmittersRCV001252207
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg)	SNV Germline	Chr16:3731206	Pathogenic/Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA394558036	rs_2051906390	3 SubmittersRCV001253321 RCV003223712
NM_004380.3(CREBBP):c.1977C>A (p.Tyr659Ter)	SNV Unknown	Chr16:3778147	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394554816	rs_2053190428	1 SubmittersRCV001253817
NM_004380.3(CREBBP):c.5224A>G (p.Met1742Val)	SNV Germline	Chr16:3729823	Likely pathogenic	Rare genetic intellectual disability	No Assertion Criteria Provided	CA394557611	rs_2151312423	1 SubmittersRCV001257011
NM_004380.3(CREBBP):c.5561A>C (p.Gln1854Pro)	SNV Germline	Chr16:3729486	Likely pathogenic	Intellectual disability	Criteria Provided Single Submitter	CA394556015	rs_2051852330	1 SubmittersRCV001260744
NM_004380.3(CREBBP):c.5186G>A (p.Cys1729Tyr)	SNV Germline	Chr16:3729861	Likely pathogenic	Intellectual disability	Criteria Provided Single Submitter	CA394557786	rs_2051863859	1 SubmittersRCV001260695
NM_004380.3(CREBBP):c.5518G>T (p.Val1840Leu)	SNV Germline	Chr16:3729529	Conflicting classifications of pathogenicity	Neurodevelopmental abnormality CREBBP-related disorder	No Assertion Criteria Provided	CA394556132	rs_2051853150	2 SubmittersRCV001264634 RCV004743377
NM_004380.3(CREBBP):c.6250C>T (p.Gln2084Ter)	SNV Germline	Chr16:3728797	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA394553802	rs_2051825168	2 SubmittersRCV001265550
NM_004380.3(CREBBP):c.5159G>A (p.Cys1720Tyr)	SNV Germline	Chr16:3731205	Likely pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA394558032	rs_2051906316	1 SubmittersRCV001267497
NM_004380.3(CREBBP):c.4495C>G (p.Leu1499Val)	SNV Germline	Chr16:3736715	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA394563628	rs_2052070559	1 SubmittersRCV001267089
NM_004380.3(CREBBP):c.3882C>G (p.Cys1294Trp)	SNV Germline	Chr16:3745309	Likely pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA394566783	rs_1278147369	1 SubmittersRCV001267253
NM_004380.3(CREBBP):c.5345C>T (p.Ala1782Val)	SNV Germline	Chr16:3729702	Pathogenic/Likely pathogenic	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA394557089	rs_2051858361	4 SubmittersRCV001268568 RCV005225341
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met)	SNV Germline	Chr16:3770596	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome CREBBP-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7870022	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 Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7868939	rs_759047530	3 SubmittersRCV001332437 RCV003759046 RCV002476549
NM_004380.3(CREBBP):c.69G>A (p.Ser23=)	SNV Germline	Chr16:3879848	Conflicting classifications of pathogenicity	Tip-toe gait Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7870761	rs_766095612	3 SubmittersRCV001352939 RCV002504567 RCV003771031
NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe)	SNV Germline	Chr16:3731304	Likely pathogenic	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA394558449	rs_2151316542	2 SubmittersRCV001377314 RCV002504629
NM_004380.3(CREBBP):c.4561-1G>A	SNV Germline	Chr16:3736204	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394563122	rs_2151327974	1 SubmittersRCV001378472
NM_004380.3(CREBBP):c.2464-1G>A	SNV Germline	Chr16:3770987	Likely pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394552047	rs_2052993075	1 SubmittersRCV001377152
NM_004380.3(CREBBP):c.1574-2A>G	SNV Germline	Chr16:3781308	Likely pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394556999	rs_2141248421	1 SubmittersRCV001378596
NM_004380.3(CREBBP):c.802G>T (p.Gly268Ter)	SNV Germline	Chr16:3810776	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394566230	rs_2053923868	1 SubmittersRCV001384100
NM_004380.3(CREBBP):c.5367C>G (p.Asn1789Lys)	SNV Germline	Chr16:3729680	Likely pathogenic	See cases	Criteria Provided Single Submitter	CA394557040	rs_2151311363	1 SubmittersRCV001420341
NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu)	SNV Germline	Chr16:3728208	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations CREBBP-related disorder Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7868985	rs_781438241	3 SubmittersRCV001420558 RCV004743472 RCV002554090
NM_004380.3(CREBBP):c.5315T>A (p.Ile1772Asn)	SNV Germline	Chr16:3729732	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA394557211	rs_2151311733	1 SubmittersRCV001544860
NM_004380.3(CREBBP):c.6433A>G (p.Met2145Val)	SNV Germline	Chr16:3728614	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome Inborn genetic diseases CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7869113	rs_758386187	4 SubmittersRCV001552492 RCV003759059 RCV004039302 RCV003394138
NM_004380.3(CREBBP):c.6388C>T (p.Gln2130Ter)	SNV Unknown	Chr16:3728659	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394553500	rs_2151304304	1 SubmittersRCV001563617
NM_004380.3(CREBBP):c.4340C>T (p.Thr1447Ile)	SNV Germline	Chr16:3738613	Pathogenic/Likely pathogenic	Condition: not provided Rubinstein-Taybi syndrome	Criteria Provided Multiple Submitters No Conflicts	CA394564418	rs_2151334254	2 SubmittersRCV001567418 RCV001866006
NM_004380.3(CREBBP):c.5836C>G (p.Pro1946Ala)	SNV Germline	Chr16:3729211	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Condition: not provided Inborn genetic diseases CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA394555303	rs_1321085895	5 SubmittersRCV002568505 RCV001578063 RCV002359190 RCV004743553 RCV002495924
NM_004380.3(CREBBP):c.4073T>C (p.Phe1358Ser)	SNV Germline	Chr16:3740459	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Condition: not provided CREBBP-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7869624	rs_762638591	4 SubmittersRCV001866053 RCV001574440 RCV003394150 RCV004039429
NM_004380.3(CREBBP):c.2880+1G>A	SNV Germline	Chr16:3770569	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA394549949	rs_2141198335	1 SubmittersRCV001575654
NM_004380.3(CREBBP):c.4442A>G (p.Asp1481Gly)	SNV Germline	Chr16:3736768	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA394563933	rs_2151329858	1 SubmittersRCV001590292
NM_004380.3(CREBBP):c.3061-11T>C	SNV Germline	Chr16:3767920	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7869930	rs_762277548	2 SubmittersRCV001594162 RCV005014599
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys)	SNV Germline	Chr16:3767765	Conflicting classifications of pathogenicity	CREBBP-related disorder Condition: not provided Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869911	rs_555109138	4 SubmittersRCV003980813 RCV001618131 RCV002539568
NM_004380.3(CREBBP):c.1942-5T>C	SNV Germline	Chr16:3778187	Conflicting classifications of pathogenicity	Condition: not provided CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA720710965	rs_1482514446	4 SubmittersRCV001664956 RCV004743560 RCV005005984 RCV003759062
NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met)	SNV Germline	Chr16:3731829	Conflicting classifications of pathogenicity	Condition: not provided not specified Rubinstein-Taybi syndrome Tip-toe gait CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7869416	rs_766085073	5 SubmittersRCV001658799 RCV002246449 RCV002539614 RCV003319995 RCV004743561
NM_004380.3(CREBBP):c.4948G>A (p.Val1650Ile)	SNV Germline	Chr16:3731416	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869372	rs_776549587	3 SubmittersRCV001658959 RCV002539622
NM_004380.3(CREBBP):c.3233C>T (p.Ser1078Leu)	SNV Germline	Chr16:3767737	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome Inborn genetic diseases Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA277006799	rs_942848385	4 SubmittersRCV001658967 RCV002539623 RCV005540476 RCV002488449
NM_004380.3(CREBBP):c.5930T>A (p.Ile1977Asn)	SNV Germline	Chr16:3729117	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7869224	rs_754429038	4 SubmittersRCV001708176 RCV003759063 RCV004743562 RCV005014617
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile)	SNV Germline	Chr16:3770852	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome CREBBP-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7870068	rs_771016864	6 SubmittersRCV001756480 RCV002496068 RCV001882821 RCV003931312 RCV002539869
NM_004380.3(CREBBP):c.2410G>A (p.Gly804Arg)	SNV Germline	Chr16:3773804	Conflicting classifications of pathogenicity	Condition: not provided CREBBP-related disorder Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7870144	rs_754981072	3 SubmittersRCV001756500 RCV003407785 RCV002538742
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	CA394553635	rs_199821421	1 SubmittersRCV001754541
NM_004380.3(CREBBP):c.7182C>T (p.Ser2394=)	SNV Germline	Chr16:3727865	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA276971046	rs_934317603	2 SubmittersRCV001761012 RCV002540406
NM_004380.3(CREBBP):c.973A>T (p.Met325Leu)	SNV Germline	Chr16:3810605	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7870553	rs_747990896	2 SubmittersRCV001774461 RCV004980665
NM_004380.3(CREBBP):c.4133G>A (p.Arg1378Gln)	SNV Germline	Chr16:3740399	Pathogenic	Neurodevelopmental disorder	Criteria Provided Single Submitter	CA394565195	rs_121434626	1 SubmittersRCV001780057
NM_004380.3(CREBBP):c.2141G>A (p.Arg714His)	SNV Germline	Chr16:3777630	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870248	rs_141098117	4 SubmittersRCV001787528 RCV003594157 RCV005014665
NM_004380.3(CREBBP):c.2303G>A (p.Arg768Gln)	SNV Germline	Chr16:3773911	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7870165	rs_754386072	3 SubmittersRCV001806591 RCV002478034 RCV003759076
NM_004380.3(CREBBP):c.3370-2A>G	SNV Germline	Chr16:3758050	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA276997994	rs_866703165	1 SubmittersRCV001807959
NM_004380.3(CREBBP):c.3940A>T (p.Lys1314Ter)	SNV Germline	Chr16:3744936	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394566640	rs_2151354104	1 SubmittersRCV001814883
NM_004380.3(CREBBP):c.7222A>G (p.Met2408Val)	SNV Germline	Chr16:3727825	Conflicting classifications of pathogenicity	not specified CREBBP-related disorder Rubinstein-Taybi syndrome Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7868932	rs_372005280	5 SubmittersRCV001819627 RCV003416476 RCV005095256 RCV004598151 RCV005014677
NM_004380.3(CREBBP):c.2635C>T (p.Pro879Ser)	SNV Germline	Chr16:3770815	Conflicting classifications of pathogenicity	not specified Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7870060	rs_779479811	2 SubmittersRCV001817937 RCV002542706
NM_004380.3(CREBBP):c.5600G>T (p.Arg1867Leu)	SNV Germline	Chr16:3729447	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA394555927	rs_1131691326	1 SubmittersRCV001824507
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	CA7869245	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	CA394558743	rs_1596791996	1 SubmittersRCV001842251
NM_004380.3(CREBBP):c.2881-13G>A	SNV Germline	Chr16:3769366	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA2573151993	rs_751913060	1 SubmittersRCV001912665
NM_004380.3(CREBBP):c.4480C>T (p.Pro1494Ser)	SNV Germline	Chr16:3736730	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394563695	rs_199817036	1 SubmittersRCV001884465
NM_004380.3(CREBBP):c.3425T>C (p.Leu1142Pro)	SNV Germline	Chr16:3757993	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394568972	rs_2151383792	1 SubmittersRCV001930793
NM_004380.3(CREBBP):c.5796G>A (p.Thr1932=)	SNV Germline	Chr16:3729251	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Condition: not provided CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7869243	rs_755609198	4 SubmittersRCV001943718 RCV003407954 RCV004743654 RCV005016849
NM_004380.3(CREBBP):c.4395-2A>C	SNV Germline	Chr16:3736817	Likely pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394564058	rs_2151330226	1 SubmittersRCV002017432
NM_004380.3(CREBBP):c.4561-2A>T	SNV Germline	Chr16:3736205	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394563131	rs_2151327978	1 SubmittersRCV001975149
NM_004380.3(CREBBP):c.5782C>T (p.Gln1928Ter)	SNV Germline	Chr16:3729265	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394555530	rs_2151308298	1 SubmittersRCV002035383
NM_004380.3(CREBBP):c.1618C>T (p.Gln540Ter)	SNV Germline	Chr16:3781262	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394556891	rs_398124138	1 SubmittersRCV002007528
NM_004380.3(CREBBP):c.3610-1G>A	SNV Germline	Chr16:3757377	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394568524	rs_1596852670	1 SubmittersRCV002011725
NM_004380.3(CREBBP):c.1824C>G (p.Leu608=)	SNV Germline	Chr16:3778817	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Inborn genetic diseases CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA276973995	rs_753242611	3 SubmittersRCV001960014 RCV004612014 RCV004743666
NM_004380.3(CREBBP):c.5348G>T (p.Cys1783Phe)	SNV Germline	Chr16:3729699	Likely pathogenic	Tip-toe gait	Criteria Provided Single Submitter	CA394557083	rs_2151311520	1 SubmittersRCV002052282
NM_004380.3(CREBBP):c.1930G>C (p.Ala644Pro)	SNV Germline	Chr16:3778711	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394555132	rs_2141237064	1 SubmittersRCV002077368
NM_004380.3(CREBBP):c.2668A>C (p.Thr890Pro)	SNV Germline	Chr16:3770782	Conflicting classifications of pathogenicity	Condition: not provided CREBBP-related disorder Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7870053	rs_370012973	4 SubmittersRCV002211341 RCV003408168 RCV003594169
NM_004380.3(CREBBP):c.5172+15C>T	SNV Germline	Chr16:3731177	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA2573151981	rs_1567265093	2 SubmittersRCV002224951 RCV005095771
NM_004380.3(CREBBP):c.3832G>C (p.Glu1278Gln)	SNV Germline	Chr16:3749631	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394567311	rs_267606752	1 SubmittersRCV002226836
NM_004380.3(CREBBP):c.5710C>T (p.Gln1904Ter)	SNV Germline	Chr16:3729337	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394555696	rs_2151308835	1 SubmittersRCV002226990
NM_004380.3(CREBBP):c.4305T>G (p.Asp1435Glu)	SNV Germline	Chr16:3738648	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394564554	rs_928061320	1 SubmittersRCV002226996
NM_004380.3(CREBBP):c.5169C>G (p.Cys1723Trp)	SNV Germline	Chr16:3731195	Pathogenic/Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA394557997	rs_146718571	2 SubmittersRCV002249840 RCV005052854
NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser)	SNV Germline	Chr16:3757933	Conflicting classifications of pathogenicity	not specified CREBBP-related disorder Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7869804	rs_148166625	4 SubmittersRCV002247112 RCV003896086 RCV005095839 RCV002481054
NM_004380.3(CREBBP):c.3983-1G>C	SNV Germline	Chr16:3740550	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394565527	rs_2151341377	1 SubmittersRCV002250932
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=)	SNV Germline	Chr16:3736791	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869519	rs_370689343	2 SubmittersRCV002266677 RCV003096046
NM_004380.3(CREBBP):c.223C>T (p.Arg75Ter)	SNV Germline/somatic	Chr16:3850872	Pathogenic	Abnormal cerebral morphology Condition: not provided CREBBP-related disorder Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA394562067	rs_2141496166	4 SubmittersRCV002276337 RCV002466753 RCV003403768 RCV004673656
NM_004380.3(CREBBP):c.5439C>G (p.Asn1813Lys)	SNV Germline	Chr16:3729608	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA394556389	rs_372253007	1 SubmittersRCV002276022
NM_004380.3(CREBBP):c.1217-7G>A	SNV Germline	Chr16:3792101	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA2202953734	rs_2053519519	3 SubmittersRCV002278919 RCV003096293 RCV003896106
NM_004380.3(CREBBP):c.5558A>C (p.Gln1853Pro)	SNV Germline	Chr16:3729489	Pathogenic/Likely pathogenic	Menke-Hennekam syndrome 1 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA394556023	rs_933672395	2 SubmittersRCV002280359 RCV003164411
NM_004380.3(CREBBP):c.5513G>A (p.Cys1838Tyr)	SNV Germline	Chr16:3729534	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA394556145	rs_1596787407	1 SubmittersRCV002284749
NM_004380.3(CREBBP):c.5356C>G (p.Arg1786Gly)	SNV Germline	Chr16:3729691	Likely pathogenic	Menke-Hennekam syndrome 1	Criteria Provided Single Submitter	CA394557063	rs_1555471394	1 SubmittersRCV002285198
NM_004380.3(CREBBP):c.3200G>A (p.Ser1067Asn)	SNV Germline	Chr16:3767770	Conflicting classifications of pathogenicity	Inborn genetic diseases Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA394570543	rs_1315293522	2 SubmittersRCV002443354 RCV003099289
NM_004380.3(CREBBP):c.6137C>T (p.Ala2046Val)	SNV Germline	Chr16:3728910	Conflicting classifications of pathogenicity	Inborn genetic diseases Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7869177	rs_753688167	4 SubmittersRCV002360360 RCV003594225 RCV005019187 RCV003408247
NM_004380.3(CREBBP):c.6452G>T (p.Arg2151Leu)	SNV Germline	Chr16:3728595	Conflicting classifications of pathogenicity	CREBBP-related disorder Rubinstein-Taybi syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7869105	rs_749783719	4 SubmittersRCV003418471 RCV005096944 RCV004721055 RCV002361854
NM_004380.3(CREBBP):c.6763C>T (p.Pro2255Ser)	SNV Germline	Chr16:3728284	Conflicting classifications of pathogenicity	Inborn genetic diseases CREBBP-related disorder Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869007	rs_754396803	3 SubmittersRCV002369283 RCV004744353 RCV003759151
NM_004380.3(CREBBP):c.743C>T (p.Pro248Leu)	SNV Germline	Chr16:3850352	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided not specified CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7870621	rs_374499169	4 SubmittersRCV002385065 RCV003418477 RCV003388114 RCV004744356
NM_004380.3(CREBBP):c.775G>T (p.Ala259Ser)	SNV Germline	Chr16:3850320	Conflicting classifications of pathogenicity	Inborn genetic diseases Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7870609	rs_750216784	3 SubmittersRCV002409713 RCV003103437 RCV004744357
NM_004380.3(CREBBP):c.942C>G (p.Ile314Met)	SNV Germline	Chr16:3810636	Conflicting classifications of pathogenicity	Inborn genetic diseases Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7870560	rs_772188901	2 SubmittersRCV002373996 RCV003759655
NM_004380.3(CREBBP):c.1504C>T (p.Pro502Ser)	SNV Germline	Chr16:3782753	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided CREBBP-related disorder Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA276977018	rs_973479623	5 SubmittersRCV002389978 RCV003146558 RCV003418497 RCV003095258
NM_004380.3(CREBBP):c.2501A>G (p.Asn834Ser)	SNV Germline	Chr16:3770949	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA394551905	rs_1205756499	2 SubmittersRCV003101895 RCV002455618
NM_004380.3(CREBBP):c.235G>A (p.Gly79Ser)	SNV Germline	Chr16:3850860	Conflicting classifications of pathogenicity	Inborn genetic diseases Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870719	rs_752992134	3 SubmittersRCV002448524 RCV003759728 RCV005008582
NM_004380.3(CREBBP):c.2365G>A (p.Ala789Thr)	SNV Germline	Chr16:3773849	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA7870152	rs_746728741	2 SubmittersRCV002450139 RCV003146564
NM_004380.3(CREBBP):c.2495C>A (p.Pro832His)	SNV Germline	Chr16:3770955	Conflicting classifications of pathogenicity	CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7870096	rs_755952440	3 SubmittersRCV004744365 RCV005019202 RCV002430992
NM_004380.3(CREBBP):c.2810C>T (p.Pro937Leu)	SNV Germline	Chr16:3770640	Conflicting classifications of pathogenicity	Inborn genetic diseases Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870037	rs_766849648	3 SubmittersRCV002441702 RCV005098299 RCV005019204
NM_004380.3(CREBBP):c.4251C>G (p.Tyr1417Ter)	SNV Germline	Chr16:3739607	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394564738	rs_61731412	1 SubmittersRCV002471646
NM_004380.3(CREBBP):c.5683C>T (p.Gln1895Ter)	SNV Germline	Chr16:3729364	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394555756	rs_2151309006	1 SubmittersRCV002470191
NM_004380.3(CREBBP):c.5264G>A (p.Ser1755Asn)	SNV Germline	Chr16:3729783	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7869302	rs_141069312	3 SubmittersRCV003076657 RCV003410062 RCV005019610
NM_004380.3(CREBBP):c.3307C>T (p.Arg1103Ter)	SNV Germline	Chr16:3758916	Pathogenic	Rubinstein-Taybi syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA394569552	rs_2151385663	3 SubmittersRCV003064314 RCV003320911
NM_004380.3(CREBBP):c.175C>T (p.Leu59Phe)	SNV Germline	Chr16:3850920	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870728	rs_747862621	2 SubmittersRCV003086185 RCV005019659
NM_004380.3(CREBBP):c.4844A>G (p.Asn1615Ser)	SNV Germline	Chr16:3731822	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder not specified	Criteria Provided Conflicting Classifications	CA7869415	rs_372308925	3 SubmittersRCV003079696 RCV003916741 RCV004526225
NM_004380.3(CREBBP):c.4795A>G (p.Ser1599Gly)	SNV Germline	Chr16:3731871	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7869422	rs_766942126	2 SubmittersRCV003069068 RCV005019645
NM_004380.3(CREBBP):c.7195C>T (p.His2399Tyr)	SNV Germline	Chr16:3727852	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7868936	rs_369215519	4 SubmittersRCV002588325 RCV003963661 RCV005021583 RCV004978617
NM_004380.3(CREBBP):c.140A>G (p.Asn47Ser)	SNV Germline	Chr16:3850955	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7870730	rs_536856848	2 SubmittersRCV003086577 RCV003420335
NM_004380.3(CREBBP):c.3250A>T (p.Ile1084Phe)	SNV Germline	Chr16:3767720	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7869901	rs_751237748	2 SubmittersRCV002624063 RCV005021632
NM_004380.3(CREBBP):c.288G>A (p.Gln96=)	SNV Germline	Chr16:3850807	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7870702	rs_370300481	3 SubmittersRCV002628969 RCV005021637 RCV004744624
NM_004380.3(CREBBP):c.1725C>T (p.Ser575=)	SNV Germline	Chr16:3780830	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870369	rs_770666980	2 SubmittersRCV002633934 RCV005021647
NM_004380.3(CREBBP):c.5828C>T (p.Pro1943Leu)	SNV Germline	Chr16:3729219	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7869242	rs_780545388	3 SubmittersRCV002511824 RCV003594308 RCV004744371
NM_004380.3(CREBBP):c.2585C>T (p.Thr862Met)	SNV Germline	Chr16:3770865	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7870071	rs_772653113	2 SubmittersRCV003111831 RCV005412513
NM_004380.3(CREBBP):c.2264G>A (p.Ser755Asn)	SNV Germline	Chr16:3774588	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870204	rs_376103794	2 SubmittersRCV002586171 RCV005019239
NM_004380.3(CREBBP):c.1556G>A (p.Arg519Lys)	SNV Germline	Chr16:3782701	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA394557180	rs_1324562194	2 SubmittersRCV002696282 RCV003146609
NM_004380.3(CREBBP):c.2347A>G (p.Met783Val)	SNV Germline	Chr16:3773867	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870159	rs_144200709	2 SubmittersRCV002690226 RCV005019332
NM_004380.3(CREBBP):c.6478G>A (p.Ala2160Thr)	SNV Germline	Chr16:3728569	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA394552628	rs_1213106224	2 SubmittersRCV002730316 RCV003418597
NM_004380.3(CREBBP):c.6110G>A (p.Arg2037Lys)	SNV Germline	Chr16:3728937	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA394554202	rs_1481703137	3 SubmittersRCV002770977 RCV004725377 RCV005019397
NM_004380.3(CREBBP):c.2284-5C>T	SNV Germline	Chr16:3773935	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870174	rs_763032094	2 SubmittersRCV002751551 RCV005019372
NM_004380.3(CREBBP):c.2463+4C>T	SNV Germline	Chr16:3773747	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7870132	rs_752289713	3 SubmittersRCV002771153 RCV004744450 RCV005535424
NM_004380.3(CREBBP):c.2663C>T (p.Pro888Leu)	SNV Germline	Chr16:3770787	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7870055	rs_753048905	2 SubmittersRCV002871218 RCV004765580
NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)	SNV Germline	Chr16:3727840	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA394550308	rs_1379999620	2 SubmittersRCV002871300 RCV005019417
NM_004380.3(CREBBP):c.3375T>G (p.Tyr1125Ter)	SNV Germline	Chr16:3758043	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394569189	rs_2151384150	1 SubmittersRCV002893887
NM_004380.3(CREBBP):c.4471C>T (p.Gln1491Ter)	SNV Germline	Chr16:3736739	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394563756	rs_201156486	1 SubmittersRCV002913817
NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)	SNV Germline	Chr16:3728315	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Inborn genetic diseases CREBBP-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA7869014	rs_201356785	6 SubmittersRCV002913825 RCV003455600 RCV004973702 RCV004744469 RCV005425008
NM_004380.3(CREBBP):c.6343A>G (p.Met2115Val)	SNV Germline	Chr16:3728704	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Inborn genetic diseases Condition: not provided CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7869136	rs_150774470	4 SubmittersRCV002900231 RCV002903614 RCV003409957 RCV003963401
NM_004380.3(CREBBP):c.6829C>T (p.Pro2277Ser)	SNV Germline	Chr16:3728218	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7868990	rs_771721926	2 SubmittersRCV002904786 RCV005019469
NM_004380.3(CREBBP):c.2537C>T (p.Pro846Leu)	SNV Germline	Chr16:3770913	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7870089	rs_371282657	3 SubmittersRCV002932216 RCV005019461 RCV004744475
NM_004380.3(CREBBP):c.6457G>A (p.Gly2153Ser)	SNV Germline	Chr16:3728590	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7869102	rs_370693698	3 SubmittersRCV002948524 RCV003409982 RCV003377810
NM_004380.3(CREBBP):c.85+2T>G	SNV Germline	Chr16:3879830	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394567656	rs_77109850	1 SubmittersRCV002948291
NM_004380.3(CREBBP):c.6930G>T (p.Gln2310His)	SNV Germline	Chr16:3728117	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7868978	rs_764944681	2 SubmittersRCV002974854 RCV003409991
NM_004380.3(CREBBP):c.3235C>T (p.Gln1079Ter)	SNV Germline	Chr16:3767735	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394570412	rs_2141181339	1 SubmittersRCV003031172
NM_004380.3(CREBBP):c.2283+1G>T	SNV Germline	Chr16:3774568	Likely pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394553160	rs_2141219467	1 SubmittersRCV003018646
NM_004380.3(CREBBP):c.1327C>T (p.Gln443Ter)	SNV Germline	Chr16:3791984	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394560450	rs_2053517680	1 SubmittersRCV003040308
NM_004380.3(CREBBP):c.7006G>A (p.Ala2336Thr)	SNV Germline	Chr16:3728041	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA276971136	rs_543811185	2 SubmittersRCV003030383 RCV004978489
NM_004380.3(CREBBP):c.964G>A (p.Val322Met)	SNV Germline	Chr16:3810614	Conflicting classifications of pathogenicity	Inborn genetic diseases CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA277007739	rs_587778212	4 SubmittersRCV002686846 RCV003420409 RCV005011103 RCV005099468
NM_004380.3(CREBBP):c.6542A>G (p.Asn2181Ser)	SNV Germline	Chr16:3728505	Conflicting classifications of pathogenicity	Inborn genetic diseases Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7869084	rs_768978068	2 SubmittersRCV002673497 RCV005021678
NM_004380.3(CREBBP):c.6271A>T (p.Lys2091Ter)	SNV Germline	Chr16:3728776	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA394553754	rs_2548346230	1 SubmittersRCV002864173
NM_004380.3(CREBBP):c.2056C>T (p.Pro686Ser)	SNV Germline	Chr16:3778068	Conflicting classifications of pathogenicity	Inborn genetic diseases CREBBP-related disorder Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7870290	rs_763996233	3 SubmittersRCV002891988 RCV004741526 RCV005099803
NM_004380.3(CREBBP):c.2266A>G (p.Met756Val)	SNV Germline	Chr16:3774586	Conflicting classifications of pathogenicity	Inborn genetic diseases Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7870203	rs_758756046	2 SubmittersRCV002753310 RCV005099162
NM_004380.3(CREBBP):c.4021C>T (p.Arg1341Ter)	SNV Germline	Chr16:3740511	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA394565439	rs_1490222282	1 SubmittersRCV003129355
NM_004380.3(CREBBP):c.3517C>T (p.Arg1173Ter)	SNV Germline	Chr16:3757901	Pathogenic	Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Multiple Submitters No Conflicts	CA394568751	rs_2151383341	3 SubmittersRCV003136570 RCV004594680
NM_004380.3(CREBBP):c.5831C>T (p.Ala1944Val)	SNV Germline	Chr16:3729216	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869241	rs_751146607	2 SubmittersRCV003145894 RCV005099395
NM_004380.3(CREBBP):c.793G>A (p.Ala265Thr)	SNV Germline	Chr16:3850302	Conflicting classifications of pathogenicity	Condition: not provided CREBBP-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7870606	rs_753319377	3 SubmittersRCV003143345 RCV003396921 RCV003368060
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	CA394553982	rs_1467929364	1 SubmittersRCV003148514
NM_004380.3(CREBBP):c.6786C>T (p.Gly2262=)	SNV Germline	Chr16:3728261	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7868999	rs_374379164	3 SubmittersRCV003154160 RCV003778918 RCV004741560
NM_004380.3(CREBBP):c.2921C>A (p.Thr974Asn)	SNV Germline	Chr16:3769313	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA394549853	rs_1429500736	2 SubmittersRCV003155807 RCV004763609
NM_004380.3(CREBBP):c.2641C>T (p.Gln881Ter)	SNV Germline	Chr16:3770809	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA394551352	rs_2141202384	1 SubmittersRCV003222858
NM_004380.3(CREBBP):c.2360C>T (p.Ala787Val)	SNV Germline	Chr16:3773854	Conflicting classifications of pathogenicity	not specified Rubinstein-Taybi syndrome CREBBP-related disorder	Criteria Provided Conflicting Classifications	CA7870155	rs_117910358	3 SubmittersRCV003226754 RCV003779814 RCV004725690
NM_004380.3(CREBBP):c.2113+1G>C	SNV Unknown	Chr16:3778010	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394554229	rs_2141232415	1 SubmittersRCV003314281
NM_004380.3(CREBBP):c.1094A>C (p.His365Pro)	SNV Unknown	Chr16:3793508	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394563185	rs_2548464208	1 SubmittersRCV003315205
NM_004380.3(CREBBP):c.6133C>T (p.Gln2045Ter)	SNV Germline	Chr16:3728914	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA394554128	rs_2151305935	1 SubmittersRCV003319610
NM_004380.3(CREBBP):c.6310C>T (p.Arg2104Cys)	SNV Germline	Chr16:3728737	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA394553667	rs_1489860615	1 SubmittersRCV003330023
NM_004380.3(CREBBP):c.5168G>T (p.Cys1723Phe)	SNV Germline	Chr16:3731196	Likely pathogenic	Menke-Hennekam syndrome 1	No Assertion Criteria Provided	CA394558006	rs_794727535	1 SubmittersRCV003333820
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	CA394556107	rs_1596910004	1 SubmittersRCV003388801
NM_004380.3(CREBBP):c.3615G>A (p.Glu1205=)	SNV Germline	Chr16:3757371	Conflicting classifications of pathogenicity	CREBBP-related disorder Rubinstein-Taybi syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7869779	rs_759826090	3 SubmittersRCV003414080 RCV003778196 RCV005412549
NM_004380.3(CREBBP):c.5357G>C (p.Arg1786Pro)	SNV Germline	Chr16:3729690	Likely pathogenic	CREBBP-related disorder	Criteria Provided Single Submitter	CA394557061	rs_988251457	1 SubmittersRCV003402462
NM_004380.3(CREBBP):c.6155G>A (p.Arg2052Gln)	SNV Germline	Chr16:3728892	Conflicting classifications of pathogenicity	CREBBP-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA276971747	rs_748936007	2 SubmittersRCV003397663 RCV005402032
NM_004380.3(CREBBP):c.4277C>T (p.Thr1426Met)	SNV Germline	Chr16:3739581	Conflicting classifications of pathogenicity	CREBBP-related disorder Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869575	rs_145988918	2 SubmittersRCV003419083 RCV003759841
NM_004380.3(CREBBP):c.5972C>T (p.Pro1991Leu)	SNV Germline	Chr16:3729075	Conflicting classifications of pathogenicity	CREBBP-related disorder Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869208	rs_776500881	2 SubmittersRCV003402741 RCV003759840
NM_004380.3(CREBBP):c.5608G>C (p.Ala1870Pro)	SNV Germline	Chr16:3729439	Likely pathogenic	CREBBP-related disorder	Criteria Provided Single Submitter	CA394555912	rs_1411086593	1 SubmittersRCV003403027
NM_004380.3(CREBBP):c.5934C>G (p.Asn1978Lys)	SNV Germline	Chr16:3729113	Conflicting classifications of pathogenicity	CREBBP-related disorder Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA7869222	rs_754282387	2 SubmittersRCV003408435 RCV003759839
NM_004380.3(CREBBP):c.503C>T (p.Thr168Met)	SNV Germline	Chr16:3850592	Conflicting classifications of pathogenicity	not specified Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870660	rs_772863270	3 SubmittersRCV003404954 RCV003778351 RCV005012943
NM_004380.3(CREBBP):c.463G>A (p.Ala155Thr)	SNV Germline	Chr16:3850632	Conflicting classifications of pathogenicity	Condition: not provided Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870669	rs_780333650	3 SubmittersRCV003417617 RCV003778394 RCV005012952
NM_004380.3(CREBBP):c.2464-2A>G	SNV Germline	Chr16:3770988	Likely pathogenic	not specified	Criteria Provided Single Submitter	CA394552051	rs_2141204933	1 SubmittersRCV003488823
NM_004380.3(CREBBP):c.5902C>T (p.Gln1968Ter)	SNV Germline	Chr16:3729145	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394555039	rs_2151307419	1 SubmittersRCV003595018
NM_004380.3(CREBBP):c.6131C>T (p.Ala2044Val)	SNV Germline	Chr16:3728916	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7869178	rs_765415312	2 SubmittersRCV003595470 RCV004614463
NM_004380.3(CREBBP):c.2159-15T>C	SNV Germline	Chr16:3774708	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA276971192	rs_979097895	2 SubmittersRCV003595303 RCV005014748
NM_004380.3(CREBBP):c.1735A>G (p.Thr579Ala)	SNV Germline	Chr16:3780820	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870367	rs_370489037	3 SubmittersRCV003595588 RCV004741638 RCV005013030
NM_004380.3(CREBBP):c.3214T>G (p.Ser1072Ala)	SNV Germline	Chr16:3767756	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA277006808	rs_947598568	2 SubmittersRCV003593410 RCV005014783
NM_004380.3(CREBBP):c.2788C>T (p.Pro930Ser)	SNV Germline	Chr16:3770662	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA394550767	rs_1464234725	4 SubmittersRCV003593520 RCV004741641 RCV005014790 RCV004980883
NM_004380.3(CREBBP):c.4615T>A (p.Tyr1539Asn)	SNV Germline	Chr16:3736149	Likely pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394562711	rs_2548362072	1 SubmittersRCV003593782
NM_004380.3(CREBBP):c.4894T>G (p.Phe1632Val)	SNV Germline	Chr16:3731470	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Conflicting Classifications	CA394559126	rs_587783501	3 SubmittersRCV003760060 RCV005235725 RCV005256467
NM_004380.3(CREBBP):c.2924C>T (p.Pro975Leu)	SNV Germline	Chr16:3769310	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome not specified	Criteria Provided Conflicting Classifications	CA394549847	rs_1466424348	2 SubmittersRCV003760133 RCV005435241
NM_004380.3(CREBBP):c.685C>T (p.Pro229Ser)	SNV Germline	Chr16:3850410	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870631	rs_771371997	2 SubmittersRCV003760669 RCV004798983
NM_004380.3(CREBBP):c.2803C>T (p.Gln935Ter)	SNV Germline	Chr16:3770647	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394550701	rs_2141199590	1 SubmittersRCV003760884
NM_004380.3(CREBBP):c.6307C>T (p.Gln2103Ter)	SNV Germline	Chr16:3728740	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394553673	rs_1596784178	1 SubmittersRCV003760965
NM_004380.3(CREBBP):c.2836C>T (p.Gln946Ter)	SNV Germline	Chr16:3770614	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394550039	rs_2141199028	1 SubmittersRCV003760941
NM_004380.3(CREBBP):c.733C>T (p.Gln245Ter)	SNV Germline	Chr16:3850362	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394559335	rs_2548544025	1 SubmittersRCV003758504
NM_004380.3(CREBBP):c.6227C>A (p.Ser2076Ter)	SNV Germline	Chr16:3728820	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter	CA394553853	rs_2151305375	1 SubmittersRCV003758594
NM_004380.3(CREBBP):c.5910G>T (p.Gln1970His)	SNV Germline	Chr16:3729137	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7869230	rs_749069343	3 SubmittersRCV003760214 RCV004741686 RCV005014901
NM_004380.3(CREBBP):c.4807G>A (p.Ala1603Thr)	SNV Germline	Chr16:3731859	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Conflicting Classifications	CA7869420	rs_375557093	4 SubmittersRCV003760247 RCV004741690 RCV005014906 RCV005439162
NM_004380.3(CREBBP):c.2224C>T (p.Arg742Cys)	SNV Germline	Chr16:3774628	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7870210	rs_778882385	2 SubmittersRCV003760348 RCV005545090
NM_004380.3(CREBBP):c.700G>A (p.Ala234Thr)	SNV Germline	Chr16:3850395	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome CREBBP-related disorder not specified	Criteria Provided Conflicting Classifications	CA394559467	rs_1285192047	3 SubmittersRCV003874733 RCV003981181 RCV004783131
NM_004380.3(CREBBP):c.2307G>A (p.Met769Ile)	SNV Germline	Chr16:3773907	Conflicting classifications of pathogenicity	CREBBP-related disorder Rubinstein-Taybi syndrome Condition: not provided Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7870164	rs_778251901	4 SubmittersRCV003904398 RCV005101680 RCV004767510 RCV005015098
NM_004380.3(CREBBP):c.6479C>T (p.Ala2160Val)	SNV Germline	Chr16:3728568	Conflicting classifications of pathogenicity	CREBBP-related disorder Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Conflicting Classifications	CA7869098	rs_779980394	3 SubmittersRCV003899317 RCV005064717 RCV005015088
NM_004380.3(CREBBP):c.1824-1G>T	SNV Germline	Chr16:3778818	Pathogenic	CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA394556105	rs_1596910004	2 SubmittersRCV003911583 RCV005603860
NM_004380.3(CREBBP):c.4471C>A (p.Gln1491Lys)	SNV Germline	Chr16:3736739	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter	CA276980080	rs_201156486	1 SubmittersRCV003990437
NM_004380.3(CREBBP):c.1948T>C (p.Tyr650His)	SNV Germline	Chr16:3778176	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA394554962	rs_2141234826	1 SubmittersRCV004367220
NM_004380.3(CREBBP):c.5321G>A (p.Arg1774His)	SNV Germline	Chr16:3729726	Pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2151311712	1 SubmittersRCV004590842
NM_004380.3(CREBBP):c.901C>T (p.Gln301Ter)	SNV Germline	Chr16:3810677	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter		rs_2548493542	1 SubmittersRCV004595831
NM_004380.3(CREBBP):c.2689C>T (p.Gln897Ter)	SNV Germline	Chr16:3770761	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter			1 SubmittersRCV004596023
NM_004380.3(CREBBP):c.4508A>T (p.Tyr1503Phe)	SNV Germline/somatic	Chr16:3736702	Likely pathogenic	Neoplasm Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter			2 SubmittersRCV004666591 RCV004720548
NM_004380.3(CREBBP):c.472C>T (p.Gln158Ter)	SNV Germline	Chr16:3850623	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004719515
NM_004380.3(CREBBP):c.2158+1G>A	SNV Germline	Chr16:3777612	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004720139
NM_004380.3(CREBBP):c.2254C>T (p.Gln752Ter)	SNV Germline	Chr16:3774598	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004722232
NM_004380.3(CREBBP):c.4223G>T (p.Cys1408Phe)	SNV Germline	Chr16:3739635	Likely pathogenic	CREBBP-related disorder	No Assertion Criteria Provided			1 SubmittersRCV004724386
NM_004380.3(CREBBP):c.3061-1G>A	SNV Germline	Chr16:3767910	Likely pathogenic	CREBBP-related disorder	No Assertion Criteria Provided			1 SubmittersRCV004727890
NM_004380.3(CREBBP):c.2095C>T (p.Gln699Ter)	SNV Germline	Chr16:3778029	Likely pathogenic	CREBBP-related disorder	No Assertion Criteria Provided			1 SubmittersRCV004730207
NM_004380.3(CREBBP):c.4391T>A (p.Leu1464Ter)	SNV Germline	Chr16:3738562	Likely pathogenic	CREBBP-related disorder	No Assertion Criteria Provided			1 SubmittersRCV004726302
NM_004380.3(CREBBP):c.4103C>T (p.Thr1368Met)	SNV Germline	Chr16:3740429	Conflicting classifications of pathogenicity	CREBBP-related disorder Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications			3 SubmittersRCV004742736 RCV005017236 RCV005103686
NM_004380.3(CREBBP):c.2554C>G (p.Pro852Ala)	SNV Germline	Chr16:3770896	Conflicting classifications of pathogenicity	CREBBP-related disorder not specified Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications			4 SubmittersRCV004743151 RCV005433531 RCV005017243 RCV005103753
NM_004380.3(CREBBP):c.5629G>A (p.Val1877Met)	SNV Germline	Chr16:3729418	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV004764657 RCV005059912
NM_004380.3(CREBBP):c.1301A>T (p.Lys434Ile)	SNV Germline	Chr16:3792010	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter			1 SubmittersRCV004795264
NM_004380.3(CREBBP):c.3836+5G>A	SNV Germline	Chr16:3749622	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV004795459
NM_004380.3(CREBBP):c.3649C>T (p.Gln1217Ter)	SNV Germline	Chr16:3757337	Pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter			1 SubmittersRCV004795718
NM_004380.3(CREBBP):c.22G>T (p.Gly8Ter)	SNV Germline	Chr16:3879895	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004798247
NM_004380.3(CREBBP):c.3G>T (p.Met1Ile)	SNV Germline	Chr16:3879914	Pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter			1 SubmittersRCV004979189
NM_004380.3(CREBBP):c.5997C>T (p.Ser1999=)	SNV Germline	Chr16:3729050	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005015385 RCV005112636
NM_004380.3(CREBBP):c.5992G>T (p.Val1998Leu)	SNV Germline	Chr16:3729055	Conflicting classifications of pathogenicity	Rubinstein-Taybi syndrome due to CREBBP mutations Menke-Hennekam syndrome 1 Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005015386 RCV005112637
NM_004380.3(CREBBP):c.4560+1G>A	SNV Germline	Chr16:3736649	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005054584
NM_004380.3(CREBBP):c.4561-2A>G	SNV Germline	Chr16:3736205	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005141069
NM_004380.3(CREBBP):c.1476C>A (p.Tyr492Ter)	SNV Germline	Chr16:3782781	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005177049
NM_004380.3(CREBBP):c.3128C>G (p.Ser1043Ter)	SNV Germline	Chr16:3767842	Pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005203554
NM_004380.3(CREBBP):c.4281-2A>T	SNV Germline	Chr16:3738674	Likely pathogenic	Rubinstein-Taybi syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005207627
NM_004380.3(CREBBP):c.5175C>G (p.Asp1725Glu)	SNV Germline	Chr16:3729872	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005205713
NM_004380.3(CREBBP):c.5197T>G (p.Tyr1733Asp)	SNV Germline	Chr16:3729850	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter			1 SubmittersRCV005236983
NM_004380.3(CREBBP):c.1318C>T (p.Arg440Ter)	SNV Germline	Chr16:3791993	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005241778
NM_004380.3(CREBBP):c.2284-2A>G	SNV Germline	Chr16:3773932	Likely pathogenic	Rubinstein-Taybi syndrome due to CREBBP mutations	Criteria Provided Single Submitter			1 SubmittersRCV005254254
NM_004380.3(CREBBP):c.5102A>G (p.Asp1701Gly)	SNV Germline	Chr16:3731262	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005257765
NM_004380.3(CREBBP):c.4393G>C (p.Gly1465Arg)	SNV Germline	Chr16:3738560	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005429758
NM_004380.3(CREBBP):c.2283+1G>C	SNV Germline	Chr16:3774568	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005604706
NM_004380.3(CREBBP):c.5185T>C (p.Cys1729Arg)	SNV Germline	Chr16:3729862	Likely pathogenic	Cone-rod dystrophy	Criteria Provided Single Submitter			1 SubmittersRCV005625119
NM_004380.3(CREBBP):c.5128T>A (p.Cys1710Ser)	SNV Germline	Chr16:3731236	Likely pathogenic	Intellectual disability	Criteria Provided Single Submitter			1 SubmittersRCV005625120
NM_004380.3(CREBBP):c.4474A>G (p.Lys1492Glu)	SNV Germline	Chr16:3736736	Likely pathogenic	Intellectual disability	Criteria Provided Single Submitter			1 SubmittersRCV005625121

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

SNV
Germline

Chr16:3850689

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA254809

rs_121434624

2 SubmittersRCV000010035

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

SNV
Germline

Chr16:3793533

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA254811

rs_121434625

2 SubmittersRCV000010036

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

SNV
Germline

Chr16:3740399

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA254813

rs_121434626

3 SubmittersRCV000010037 RCV005249986

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

SNV
Germline

Chr16:3757894

Pathogenic/Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA254814

rs_28937315

5 SubmittersRCV000010039 RCV004609293

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

SNV
Germline

Chr16:3749631

Pathogenic/Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided
Intellectual disability
Inborn genetic diseases
Abnormality of the nervous system
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 RCV001260694 RCV001267080 RCV001813970 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

CA394566898

rs_1567277287

1 SubmittersRCV000010041

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

SNV
Germline

Chr16:3793453

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA148108

rs_61759495

7 SubmittersRCV000081028 RCV000145712 RCV000872923 RCV001610371 RCV002311602 RCV003974969

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

SNV
Germline

Chr16:3782888

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA222672

rs_369459749

6 SubmittersRCV000081029 RCV002265601 RCV002381401 RCV002514423 RCV004742248

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

SNV
Germline

Chr16:3781229

Conflicting classifications of pathogenicity

not specified
Rubinstein-Taybi syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA248673

rs_61753381

10 SubmittersRCV000081031 RCV000550437 RCV000426201 RCV002311603

NM_004380.3(CREBBP):c.2034C>T (p.Ile678=)

SNV
Germline

Chr16:3778090

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA222679

rs_398124141

2 SubmittersRCV000081035 RCV005089548

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

SNV
Germline

Chr16:3773902

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA222683

rs_147805823

6 SubmittersRCV000081037 RCV001854429 RCV002477232 RCV002514426 RCV003974970

NM_004380.3(CREBBP):c.2415G>A (p.Ala805=)

SNV
Germline

Chr16:3773799

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA222685

rs_368664039

4 SubmittersRCV000081038 RCV002514427 RCV003964929

NM_004380.3(CREBBP):c.2811G>A (p.Pro937=)

SNV
Germline

Chr16:3770639

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA222687

rs_146168040

9 SubmittersRCV000081041 RCV001085008 RCV001815180 RCV002311605 RCV003974971

NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr)

SNV
Germline

Chr16:3769284

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA222689

rs_140406003

4 SubmittersRCV000081043 RCV002433589 RCV002515776 RCV003935049

NM_004380.3(CREBBP):c.3060+10G>A

SNV
Germline

Chr16:3769164

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA222691

rs_398124143

3 SubmittersRCV000081046 RCV002055190 RCV003925063

NM_004380.3(CREBBP):c.3337C>T (p.Gln1113Ter)

SNV
Germline

Chr16:3758886

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA222692

rs_398124144

1 SubmittersRCV000081048

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

SNV
Germline

Chr16:3744893

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA222694

rs_398124145

2 SubmittersRCV000081051 RCV000499536

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

SNV
Germline/somatic

Chr16:3738617

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA222695

rs_398124146

5 SubmittersRCV000081052 RCV000700948 RCV002228327 RCV004668773

NM_004380.3(CREBBP):c.4481C>G (p.Pro1494Arg)

SNV
Germline

Chr16:3736729

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA222697

rs_398124147

1 SubmittersRCV000081053

NM_004380.3(CREBBP):c.504G>A (p.Thr168=)

SNV
Germline

Chr16:3850591

Conflicting classifications of pathogenicity

Condition: not provided
CREBBP-related disorder
Rubinstein-Taybi syndrome
not specified

Criteria Provided
Conflicting Classifications

CA222699

rs_373310969

4 SubmittersRCV000081056 RCV003894939 RCV002514428 RCV004782050

NM_004380.3(CREBBP):c.5361C>T (p.Asn1787=)

SNV
Germline

Chr16:3729686

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA222701

rs_375462934

4 SubmittersRCV000081058 RCV002514429 RCV003945015

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

SNV
Germline

Chr16:3729328

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA248675

rs_199990883

13 SubmittersRCV000081061 RCV000145767 RCV000224624 RCV001085724 RCV002311611 RCV003982877

NM_004380.3(CREBBP):c.3611A>T (p.Tyr1204Phe)

SNV
Germline

Chr16:3757375

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA158176

rs_200346970

3 SubmittersRCV000120596 RCV001567118 RCV002515831

NM_004380.3(CREBBP):c.6524A>G (p.Asn2175Ser)

SNV
Germline

Chr16:3728523

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
CREBBP-related disorder
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA158193

rs_587778214

4 SubmittersRCV000120605 RCV002316343 RCV003398725 RCV005089596

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

SNV
Germline

Chr16:3728091

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158195

rs_587778215

4 SubmittersRCV000120606 RCV002515834 RCV003415910 RCV005016410

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

SNV
Germline

Chr16:3728389

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158199

rs_141184151

4 SubmittersRCV000120608 RCV002514628 RCV004742264 RCV005016411

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

SNV
Germline

Chr16:3782743

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA158201

rs_369550568

4 SubmittersRCV000120609 RCV002515836 RCV003952591 RCV005016412

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

SNV
Germline

Chr16:3728007

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA171806

rs_182347573

5 SubmittersRCV000145780 RCV003593919 RCV004975296 RCV005016465 RCV005625317

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

SNV
Germline

Chr16:3728598

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA271440

rs_587783512

5 SubmittersRCV000145778 RCV003456371 RCV002492531 RCV003758698 RCV003390831

NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=)

SNV
Germline

Chr16:3728957

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA171802

rs_374969185

6 SubmittersRCV000145776 RCV000724357 RCV002354333 RCV002055884 RCV003905261

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.5829G>A (p.Pro1943=)

SNV
Germline

Chr16:3729218

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA171800

rs_546554430

7 SubmittersRCV000145770 RCV000723897 RCV002316927 RCV002055883 RCV003965101

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

SNV
Germline

Chr16:3729226

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA271429

rs_587783505

2 SubmittersRCV000145769 RCV004796043

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

SNV
Germline

Chr16:3729247

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA243769

rs_587783504

8 SubmittersRCV000145768 RCV000177560 RCV001087896 RCV002221200 RCV002354332 RCV003935243

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

SNV
Germline

Chr16:3731314

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271427

rs_587783503

1 SubmittersRCV000145765

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

SNV
Germline

Chr16:3736702

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271419

rs_587783497

1 SubmittersRCV000145757

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

SNV
Germline

Chr16:3736765

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271417

rs_587783496

1 SubmittersRCV000145756

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

SNV
Germline

Chr16:3736766

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271415

rs_587783495

1 SubmittersRCV000145755

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

SNV
Germline

Chr16:3736812

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271413

rs_147688139

1 SubmittersRCV000145754

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

SNV
Germline

Chr16:3738577

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271411

rs_587783494

1 SubmittersRCV000145753

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

SNV
Germline

Chr16:3738683

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271410

rs_587783493

1 SubmittersRCV000145752

NM_004380.3(CREBBP):c.4280+8T>C

SNV
Germline

Chr16:3739570

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA171794

rs_376814421

6 SubmittersRCV000145751 RCV000724245 RCV002055881 RCV003935242

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
Rubinstein-Taybi syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA271393

rs_587783483

10 SubmittersRCV000145739 RCV000255068 RCV001260696 RCV002498664 RCV005089678

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

SNV
Germline

Chr16:3757373

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271391

rs_587783482

1 SubmittersRCV000145738

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

SNV
Germline

Chr16:3757918

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA271389

rs_587783481

4 SubmittersRCV000145737 RCV002228523 RCV003895028

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

SNV
Germline

Chr16:3758853

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA271388

rs_587783480

3 SubmittersRCV000145736 RCV001268616

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

SNV
Germline

Chr16:3758913

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271386

rs_587783479

1 SubmittersRCV000145735

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

SNV
Germline

Chr16:3770659

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271379

rs_587783475

1 SubmittersRCV000145730

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

SNV
Germline

Chr16:3770771

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA271377

rs_587783474

3 SubmittersRCV000145727 RCV003593917 RCV005434655

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

SNV
Germline

Chr16:3770915

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271372

rs_587783471

1 SubmittersRCV000145724

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

SNV
Germline

Chr16:3792041

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA271362

rs_587783464

5 SubmittersRCV000145716 RCV001824287

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

SNV
Germline

Chr16:3792054

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271360

rs_587783463

1 SubmittersRCV000145715

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

SNV
Germline

Chr16:3793446

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271358

rs_587783461

2 SubmittersRCV000145713

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

SNV
Germline

Chr16:3793539

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA271356

rs_587783460

2 SubmittersRCV000145711 RCV004589637

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

SNV
Germline

Chr16:3810625

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA271443

rs_587783516

2 SubmittersRCV000145784 RCV005089681

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

SNV
Germline

Chr16:3850497

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA271434

rs_587783509

3 SubmittersRCV000145774 RCV004724925

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

SNV
Germline

Chr16:3850779

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271384

rs_587783478

1 SubmittersRCV000145734

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

SNV
Germline

Chr16:3850809

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271381

rs_587783476

1 SubmittersRCV000145732

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

SNV
Germline

Chr16:3850931

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA271365

rs_587783466

4 SubmittersRCV000145718 RCV002478406 RCV003764886 RCV005434654

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

SNV
Germline

Chr16:3851011

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271442

rs_587783515

1 SubmittersRCV000145783

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

SNV
Germline

Chr16:3879880

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA271394

rs_587783484

1 SubmittersRCV000145740

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

SNV
Germline

Chr16:3780823

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233869

rs_148023511

5 SubmittersRCV000153119 RCV000764070 RCV002316965 RCV003105799 RCV004742280

NM_004380.3(CREBBP):c.2850G>A (p.Thr950=)

SNV
Germline

Chr16:3770600

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA233865

rs_141651423

5 SubmittersRCV000153117 RCV001078500 RCV002433668 RCV003937420

NM_004380.3(CREBBP):c.2526G>A (p.Gln842=)

SNV
Germline

Chr16:3770924

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA233867

rs_141775567

4 SubmittersRCV000153118 RCV002514951 RCV003917495

NM_004380.3(CREBBP):c.252A>G (p.Pro84=)

SNV
Germline

Chr16:3850843

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA233871

rs_727503893

2 SubmittersRCV000153121 RCV003758699

NM_004380.3(CREBBP):c.4890+2T>C

SNV
Germline

Chr16:3731774

Likely pathogenic

Condition: not provided
CREBBP-related disorder

Criteria Provided
Single Submitter

CA235946

rs_786205495

2 SubmittersRCV000171243 RCV003982920

NM_004380.3(CREBBP):c.3089C>T (p.Ser1030Phe)

SNV
Germline

Chr16:3767881

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA240724

rs_757051244

4 SubmittersRCV000175058 RCV003407645 RCV002312710 RCV002516659

NM_004380.3(CREBBP):c.711C>T (p.Ser237=)

SNV
Germline

Chr16:3850384

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA241539

rs_146049063

4 SubmittersRCV000175775 RCV002516688 RCV003917630

NM_004380.3(CREBBP):c.4133+4A>G

SNV
Germline

Chr16:3740395

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA201953

rs_372126168

6 SubmittersRCV000176481 RCV000951517 RCV001640269 RCV002326963 RCV003927626

NM_004380.3(CREBBP):c.4729-14G>A

SNV
Germline

Chr16:3731951

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA243043

rs_130008

3 SubmittersRCV000176937 RCV002054084

NM_004380.3(CREBBP):c.6746G>A (p.Arg2249His)

SNV
Germline

Chr16:3728301

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA243761

rs_794727551

2 SubmittersRCV000177556 RCV003758712

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

Criteria Provided
Conflicting Classifications

CA243767

rs_557611780

6 SubmittersRCV000177559 RCV003416090 RCV003593928 RCV005016521 RCV004799188

NM_004380.3(CREBBP):c.1275T>C (p.His425=)

SNV
Germline

Chr16:3792036

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246083

rs_758886547

4 SubmittersRCV000178892 RCV002372098 RCV002517745 RCV003947522

NM_004380.3(CREBBP):c.4409A>G (p.His1470Arg)

SNV
Germline

Chr16:3736801

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA204617

rs_797044860

1 SubmittersRCV000190664

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

Criteria Provided
Multiple Submitters
No Conflicts

CA276136

rs_797045037

8 SubmittersRCV000191076 RCV000523539 RCV001260745 RCV000757968 RCV003458352 RCV002517032 RCV003422092

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.1331-12T>C

SNV
Germline

Chr16:3782938

Conflicting classifications of pathogenicity

not specified
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA206935

rs_779542354

2 SubmittersRCV000193439 RCV002517925

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.5615T>C (p.Met1872Thr)

SNV
Germline

Chr16:3729432

Pathogenic/Likely pathogenic

not specified
Condition: not provided
Rubinstein-Taybi syndrome
Menke-Hennekam syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10586027

rs_879255381

5 SubmittersRCV000238672 RCV005230182 RCV002518519 RCV002290966

NM_004380.3(CREBBP):c.6010C>T (p.Arg2004Ter)

SNV
Germline

Chr16:3729037

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10588617

rs_886039331

1 SubmittersRCV000256029

NM_004380.3(CREBBP):c.5602C>T (p.Arg1868Trp)

SNV
Germline

Chr16:3729445

Pathogenic

Condition: not provided
Menke-Hennekam syndrome
Menke-Hennekam syndrome 1
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA10588618

rs_886039491

8 SubmittersRCV000254930 RCV002282094 RCV000757967 RCV003156089

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.3609+1G>A

SNV
Germline

Chr16:3757808

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA10603394

rs_886041879

1 SubmittersRCV000326675

NM_004380.3(CREBBP):c.2977C>T (p.Pro993Ser)

SNV
Germline

Chr16:3769257

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA10604228

rs_886042430

2 SubmittersRCV000362295 RCV003758743

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

SNV
Germline

Chr16:3728369

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869029

rs_750845399

5 SubmittersRCV000341039 RCV003939977 RCV002487207 RCV002521902

NM_004380.3(CREBBP):c.423T>G (p.Ser141=)

SNV
Germline

Chr16:3850672

Conflicting classifications of pathogenicity

Condition: not provided
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA7870678

rs_760605470

3 SubmittersRCV000310525 RCV003947876

NM_004380.3(CREBBP):c.5334G>A (p.Ser1778=)

SNV
Germline

Chr16:3729713

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7869292

rs_201062642

2 SubmittersRCV000401568 RCV002519272

NM_004380.3(CREBBP):c.1100G>T (p.Cys367Phe)

SNV
Germline

Chr16:3793502

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16042987

rs_1057518498

1 SubmittersRCV000414631

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

SNV
Germline

Chr16:3728803

Pathogenic

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

Criteria Provided
Single Submitter

CA16043513

rs_1057518789

3 SubmittersRCV000414795 RCV000760803 RCV003326423

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

SNV
Germline

Chr16:3757288

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16043514

rs_1057518844

2 SubmittersRCV000415361 RCV001198296 RCV005090685

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

SNV
Germline

Chr16:3738616

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA16602826

rs_1057519884

1 SubmittersRCV004594056

NM_004380.3(CREBBP):c.4520T>C (p.Leu1507Pro)

SNV
Germline

Chr16:3736690

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16603336

rs_1057520191

1 SubmittersRCV000419060

NM_004380.3(CREBBP):c.2659C>T (p.Gln887Ter)

SNV
Germline

Chr16:3770791

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16607300

rs_1057520589

1 SubmittersRCV000434050

NM_004380.3(CREBBP):c.5323T>C (p.Cys1775Arg)

SNV
Germline

Chr16:3729724

Conflicting classifications of pathogenicity

Condition: not provided
Menke-Hennekam syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA16607414

rs_1057524802

3 SubmittersRCV000443507 RCV004022526 RCV004975509

NM_004380.3(CREBBP):c.3889C>T (p.His1297Tyr)

SNV
Germline

Chr16:3745302

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16608188

rs_1057521558

2 SubmittersRCV000421287 RCV002510889

NM_004380.3(CREBBP):c.2302C>T (p.Arg768Ter)

SNV
Germline

Chr16:3773912

Pathogenic

Condition: not provided
Rubinstein-Taybi syndrome
Congenital heart anomalies

Criteria Provided
Multiple Submitters
No Conflicts

CA16608189

rs_1057520652

3 SubmittersRCV000431043 RCV001851047 RCV005238988

NM_004380.3(CREBBP):c.6988C>T (p.Leu2330Phe)

SNV
Germline

Chr16:3728059

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16620193

rs_1064796531

1 SubmittersRCV000480206

NM_004380.3(CREBBP):c.5570A>C (p.His1857Pro)

SNV
Germline

Chr16:3729477

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16620198

rs_1064795628

1 SubmittersRCV000487189

NM_004380.3(CREBBP):c.5366A>C (p.Asn1789Thr)

SNV
Germline

Chr16:3729681

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16620199

rs_1064794963

1 SubmittersRCV000483574

NM_004380.3(CREBBP):c.5362G>A (p.Ala1788Thr)

SNV
Germline

Chr16:3729685

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16620200

rs_1064795794

1 SubmittersRCV000486381

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

SNV
Germline

Chr16:3729711

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16620201

rs_1064796457

2 SubmittersRCV000483007 RCV005222963

NM_004380.3(CREBBP):c.5204C>T (p.Thr1735Met)

SNV
Germline

Chr16:3729843

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA16620202

rs_1064793090

4 SubmittersRCV000480754 RCV002341123 RCV002525758 RCV004742443

NM_004380.3(CREBBP):c.5120G>C (p.Cys1707Ser)

SNV
Germline

Chr16:3731244

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16620203

rs_1064795089

1 SubmittersRCV000486926

NM_004380.3(CREBBP):c.4358T>C (p.Ile1453Thr)

SNV
Germline

Chr16:3738595

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16620204

rs_1064795050

1 SubmittersRCV000482966

NM_004380.3(CREBBP):c.4184C>A (p.Ala1395Asp)

SNV
Germline

Chr16:3739674

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16620205

rs_1064796948

1 SubmittersRCV000485827

NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln)

SNV
Germline

Chr16:3729447

Pathogenic/Likely pathogenic

Condition: not provided
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394555929

rs_1131691326

6 SubmittersRCV000493961 RCV000757966 RCV003758800

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.5551C>T (p.Arg1851Cys)

SNV
Germline

Chr16:3729496

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7869272

rs_763253161

2 SubmittersRCV000497928 RCV001265899

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

Criteria Provided
Conflicting Classifications

CA7868947

rs_746116315

3 SubmittersRCV000513559 RCV002524961 RCV002490864

NM_004380.3(CREBBP):c.6516C>T (p.Asn2172=)

SNV
Germline

Chr16:3728531

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA7869092

rs_763852812

3 SubmittersRCV000512952 RCV002316453 RCV003987574

NM_004380.3(CREBBP):c.3743A>T (p.Asn1248Ile)

SNV
Germline

Chr16:3751762

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA394568038

rs_1555476935

1 SubmittersRCV000523682

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

Criteria Provided
Conflicting Classifications

CA7869187

rs_745551441

4 SubmittersRCV002231255 RCV002316527 RCV003403260 RCV002497075

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_004380.3(CREBBP):c.2071C>T (p.Gln691Ter)

SNV
Germline

Chr16:3778053

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA394554404

rs_1555483689

1 SubmittersRCV000578585

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

SNV
Germline

Chr16:3736701

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA394563542

rs_1555473105

2 SubmittersRCV000598406 RCV005231144

NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu)

SNV
Germline

Chr16:3728386

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869032

rs_200716582

8 SubmittersRCV000591355 RCV002368012 RCV003915709 RCV001486605

NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser)

SNV
Germline

Chr16:3728707

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
Inborn genetic diseases
CREBBP-related disorder
Intellectual disability

Criteria Provided
Conflicting Classifications

CA7869138

rs_139169188

6 SubmittersRCV000595375 RCV001485598 RCV002317338 RCV003927923 RCV005625698

NM_004380.3(CREBBP):c.3982+10G>A

SNV
Germline

Chr16:3744884

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA7869651

rs_370093745

3 SubmittersRCV000591066 RCV002532525 RCV003927927

NM_004380.3(CREBBP):c.2570C>T (p.Pro857Leu)

SNV
Germline

Chr16:3770880

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7870076

rs_766086544

2 SubmittersRCV000593529 RCV001860192

NM_004380.3(CREBBP):c.3929A>G (p.Asn1310Ser)

SNV
Germline

Chr16:3744947

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7869658

rs_558051943

2 SubmittersRCV000595365 RCV002532590

NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser)

SNV
Germline

Chr16:3729681

Conflicting classifications of pathogenicity

Inborn genetic diseases
Menke-Hennekam syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394557043

rs_1064794963

5 SubmittersRCV000623665 RCV001027717 RCV003231542

NM_004380.3(CREBBP):c.5361C>A (p.Asn1787Lys)

SNV
Germline

Chr16:3729686

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA394557053

rs_375462934

1 SubmittersRCV000623640

NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys)

SNV
Germline

Chr16:3729691

Pathogenic/Likely pathogenic

Inborn genetic diseases
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394557062

rs_1555471394

4 SubmittersRCV000622375 RCV000782092

NM_004380.3(CREBBP):c.5129G>A (p.Cys1710Tyr)

SNV
Germline

Chr16:3731235

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA394558168

rs_1555471813

1 SubmittersRCV000624708

NM_004380.3(CREBBP):c.4348T>C (p.Tyr1450His)

SNV
Germline

Chr16:3738605

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA394564396

rs_1555473499

1 SubmittersRCV000623013

NM_004380.3(CREBBP):c.3955C>T (p.Arg1319Ter)

SNV
Germline

Chr16:3744921

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA394566577

rs_1555475250

1 SubmittersRCV000624459

NM_004380.3(CREBBP):c.5014A>T (p.Arg1672Ter)

SNV
Germline

Chr16:3731350

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394558691

rs_1555471874

1 SubmittersRCV002233937

NM_004380.3(CREBBP):c.4663G>T (p.Glu1555Ter)

SNV
Germline

Chr16:3736101

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394562323

rs_1555472931

1 SubmittersRCV002234418

NM_004380.3(CREBBP):c.3985C>T (p.Leu1329=)

SNV
Germline

Chr16:3740547

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869634

rs_149055008

6 SubmittersRCV001082892 RCV000729898 RCV002358773 RCV003905696 RCV005435077

NM_004380.3(CREBBP):c.4394G>A (p.Gly1465Glu)

SNV
Germline

Chr16:3738559

Pathogenic

Rubinstein-Taybi syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394564268

rs_1555473491

2 SubmittersRCV000633000 RCV002260958

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

SNV
Germline

Chr16:3778699

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394555078

rs_1555483834

1 SubmittersRCV002234417

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

SNV
Germline

Chr16:3729142

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394555031

rs_1567262537

2 SubmittersRCV000754905

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

SNV
Germline

Chr16:3736104

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394562360

rs_1567269316

1 SubmittersRCV000754903

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

SNV
Germline

Chr16:3778699

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394555076

rs_1555483834

1 SubmittersRCV000754898

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

SNV
Germline

Chr16:3850824

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870710

rs_200673670

3 SubmittersRCV000658735 RCV001198613 RCV003594013

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

SNV
Germline

Chr16:3767910

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394571150

rs_1555481030

1 SubmittersRCV000661965

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

SNV
Germline

Chr16:3749626

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394567289

rs_200782888

1 SubmittersRCV002232872

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

SNV
Germline

Chr16:3729210

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869240

rs_765600316

4 SubmittersRCV002233339 RCV002352188 RCV003420244 RCV002485719

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

SNV
Germline

Chr16:3727885

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7868942

rs_756011865

3 SubmittersRCV000714678 RCV002369985 RCV004689865

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

SNV
Germline

Chr16:3729307

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869250

rs_760771706

3 SubmittersRCV000714851 RCV002477653 RCV002532980

NM_004380.3(CREBBP):c.2063C>T (p.Pro688Leu)

SNV
Germline

Chr16:3778061

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Inborn genetic diseases
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA7870284

rs_375125948

3 SubmittersRCV005092085 RCV002315462 RCV004742593

NM_004380.3(CREBBP):c.5666C>T (p.Pro1889Leu)

SNV
Germline

Chr16:3729381

Conflicting classifications of pathogenicity

Inborn genetic diseases
CREBBP-related disorder
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7869261

rs_143180774

3 SubmittersRCV002315455 RCV003420279 RCV003594022

NM_004380.3(CREBBP):c.4493G>A (p.Arg1498Gln)

SNV
Germline

Chr16:3736717

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA394563635

rs_1567269945

1 SubmittersRCV002316912

NM_004380.3(CREBBP):c.5344G>A (p.Ala1782Thr)

SNV
Germline

Chr16:3729703

Likely pathogenic

Condition: not provided
Menke-Hennekam syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA394557094

rs_1567263529

5 SubmittersRCV000722632 RCV001027872

NM_004380.3(CREBBP):c.4674A>G (p.Gln1558=)

SNV
Germline

Chr16:3736090

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7869470

rs_770241645

2 SubmittersRCV000729324 RCV003117524

NM_004380.3(CREBBP):c.6006G>T (p.Val2002=)

SNV
Germline

Chr16:3729041

Conflicting classifications of pathogenicity

Condition: not provided
CREBBP-related disorder
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7869200

rs_768100377

3 SubmittersRCV000731540 RCV003947932 RCV003758919

NM_004380.3(CREBBP):c.6228G>A (p.Ser2076=)

SNV
Germline

Chr16:3728819

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7869154

rs_759497776

2 SubmittersRCV000731846 RCV003594023

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

SNV
Germline

Chr16:3782737

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870442

rs_766320521

4 SubmittersRCV000731898 RCV001868968 RCV004742619 RCV002485905

NM_004380.3(CREBBP):c.2943A>G (p.Ala981=)

SNV
Germline

Chr16:3769291

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA276968333

rs_1053049323

3 SubmittersRCV000734493 RCV003758921 RCV003892674

NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)

SNV
Germline

Chr16:3729444

Pathogenic/Likely pathogenic

Condition: not provided
Rubinstein-Taybi syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394555924

rs_1567263168

5 SubmittersRCV000782063 RCV002535428

NM_004380.3(CREBBP):c.5128T>C (p.Cys1710Arg)

SNV
Germline

Chr16:3731236

Pathogenic

Menke-Hennekam syndrome 1

No Assertion Criteria Provided

CA394558172

rs_1567265203

1 SubmittersRCV000757965

NM_004380.3(CREBBP):c.5170G>A (p.Glu1724Lys)

SNV
Germline

Chr16:3731194

Pathogenic

Menke-Hennekam syndrome 1
Condition: not provided

Criteria Provided
Single Submitter

CA394557994

rs_1567265131

2 SubmittersRCV000757969 RCV003317356

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

SNV
Germline

Chr16:3729409

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA394555848

rs_2151309318

2 SubmittersRCV003147541 RCV003594027

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

SNV
Germline

Chr16:3757906

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394568761

rs_1567287477

1 SubmittersRCV000760233

NM_004380.3(CREBBP):c.907A>G (p.Met303Val)

SNV
Germline

Chr16:3810671

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA394565979

rs_1567331335

3 SubmittersRCV000762185 RCV002533895 RCV004742633

NM_004380.3(CREBBP):c.5219A>G (p.His1740Arg)

SNV
Germline

Chr16:3729828

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA394557633

rs_1567263724

2 SubmittersRCV000782042

NM_004380.3(CREBBP):c.4672C>T (p.Gln1558Ter)

SNV
Germline

Chr16:3736092

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394562242

rs_778375586

1 SubmittersRCV000806116

NM_004380.3(CREBBP):c.4559A>G (p.Lys1520Arg)

SNV
Germline

Chr16:3736651

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394563244

rs_1596805575

1 SubmittersRCV000799589

NM_004380.3(CREBBP):c.2755C>T (p.Gln919Ter)

SNV
Germline

Chr16:3770695

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394550904

rs_1596886183

1 SubmittersRCV000804679

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

SNV
Germline

Chr16:3758853

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394569418

rs_587783480

1 SubmittersRCV000822242

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

SNV
Unknown

Chr16:3879831

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394567664

rs_1597099388

1 SubmittersRCV000850371

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

SNV
Unknown

Chr16:3728611

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394552732

rs_1596783639

1 SubmittersRCV000856797

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

SNV
Germline

Chr16:3731373

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA394558748

rs_1596791996

3 SubmittersRCV000856923 RCV001784472 RCV005021267

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

SNV
Germline

Chr16:3736151

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394562714

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

CA394563830

rs_1596805792

1 SubmittersRCV000856917

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

SNV
Unknown

Chr16:3736793

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394564004

rs_1596805927

1 SubmittersRCV000856883

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

SNV
Germline

Chr16:3738650

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394564563

rs_1596810419

1 SubmittersRCV000856881

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

SNV
Germline

Chr16:3738656

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394564588

rs_1596810435

1 SubmittersRCV000856880

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

SNV
Unknown

Chr16:3738663

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394564613

rs_1596810465

1 SubmittersRCV000856879

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

SNV
Germline

Chr16:3738670

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394564635

rs_778448390

1 SubmittersRCV000856878

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

SNV
Germline

Chr16:3739581

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394564684

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

CA394564758

rs_1596812202

1 SubmittersRCV000856875

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

SNV
Unknown

Chr16:3739683

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394564911

rs_1596812290

1 SubmittersRCV000856874

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

SNV
Germline

Chr16:3739684

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394564914

rs_1596812306

2 SubmittersRCV000856873

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

SNV
Germline

Chr16:3739713

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA276982550

rs_149877180

1 SubmittersRCV000856872

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

SNV
Unknown

Chr16:3740492

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394565397

rs_1596813665

1 SubmittersRCV000856870

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

SNV
Germline

Chr16:3751786

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA394568097

rs_1596839714

3 SubmittersRCV000856912 RCV001858527

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

SNV
Unknown

Chr16:3757296

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394568316

rs_748451307

1 SubmittersRCV000856910

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

SNV
Germline

Chr16:3757361

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations
Inborn genetic diseases

Criteria Provided
Single Submitter

CA394568487

rs_1596852578

2 SubmittersRCV000856907 RCV002453935

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

SNV
Germline

Chr16:3757883

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394568709

rs_1596854023

1 SubmittersRCV000856904

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

SNV
Unknown

Chr16:3767873

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394571000

rs_1596878921

1 SubmittersRCV000856864

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

SNV
Unknown

Chr16:3769176

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394549571

rs_1596882010

1 SubmittersRCV000856862

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

SNV
Unknown

Chr16:3769323

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394549875

rs_1374436403

1 SubmittersRCV000856860

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

SNV
Unknown

Chr16:3770677

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394550831

rs_1596886132

1 SubmittersRCV000856855

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

SNV
Germline

Chr16:3780754

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394556374

rs_1354934373

1 SubmittersRCV000856895

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

SNV
Unknown

Chr16:3781234

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394556829

rs_1596917200

1 SubmittersRCV000856894

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

SNV
Germline

Chr16:3782708

Pathogenic

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

Criteria Provided
Single Submitter

CA394557216

rs_1596920501

2 SubmittersRCV000856892 RCV001234331

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

SNV
Germline

Chr16:3782774

Pathogenic

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

Criteria Provided
Single Submitter

CA394557519

rs_1596920745

2 SubmittersRCV000856891 RCV005436190

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

SNV
Germline

Chr16:3793494

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA394563096

rs_1384496494

4 SubmittersRCV000856851 RCV001526626 RCV005092540

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

SNV
Germline

Chr16:3793605

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394563851

rs_1596948165

1 SubmittersRCV000856849

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

SNV
Unknown

Chr16:3850482

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394559969

rs_1597053504

1 SubmittersRCV000856845

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

SNV
Germline

Chr16:3850719

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394561364

rs_1597054242

1 SubmittersRCV000856842

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

SNV
Germline

Chr16:3731775

Pathogenic

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

No Assertion Criteria Provided

CA394559496

rs_1596793242

2 SubmittersRCV000856922 RCV004726706

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

SNV
Germline

Chr16:3745276

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394566709

rs_1555475352

1 SubmittersRCV000856869

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

SNV
Germline

Chr16:3751725

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA394567957

rs_587783483

4 SubmittersRCV000856913 RCV003413671 RCV002536209 RCV004721656

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

SNV
Germline

Chr16:3757377

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394568525

rs_1596852670

1 SubmittersRCV000856905

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

SNV
Unknown

Chr16:3757378

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394568528

rs_1596852674

1 SubmittersRCV000856906

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

SNV
Germline

Chr16:3769173

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394549562

rs_1596882004

1 SubmittersRCV000856863

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

SNV
Unknown

Chr16:3774694

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394553441

rs_1596897799

1 SubmittersRCV000856899

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

SNV
Unknown

Chr16:3778698

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394555073

rs_1596909656

1 SubmittersRCV000856898

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

SNV
Unknown

Chr16:3778818

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394556108

rs_1596910004

1 SubmittersRCV000856896

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

SNV
Unknown

Chr16:3782683

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394557104

rs_1596920360

1 SubmittersRCV000856893

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

SNV
Unknown

Chr16:3793384

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

No Assertion Criteria Provided

CA394562029

rs_1596947522

1 SubmittersRCV000856889

NM_004380.3(CREBBP):c.3841G>A (p.Val1281Ile)

SNV
Germline

Chr16:3745350

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869702

rs_201874248

5 SubmittersRCV000909651 RCV002354741 RCV002540796 RCV003912995

NM_004380.3(CREBBP):c.5188A>G (p.Ile1730Val)

SNV
Somatic

Chr16:3729859

Likely pathogenic

Multiple myeloma

No Assertion Criteria Provided

CA394557777

rs_1159294530

1 SubmittersRCV000984087

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

SNV
Unknown

Chr16:3744891

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA915949080

rs_1596823180

1 SubmittersRCV000989508

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

SNV
Germline

Chr16:3850812

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870703

rs_756802946

5 SubmittersRCV000989513 RCV001655658 RCV002550613

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

SNV
Germline

Chr16:3728991

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869188

rs_771420935

3 SubmittersRCV000996194 RCV003758953 RCV005021307

NM_004380.3(CREBBP):c.5218C>A (p.His1740Asn)

SNV
Germline

Chr16:3729829

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA394557640

rs_1596788162

1 SubmittersRCV000996195

NM_004380.3(CREBBP):c.5059T>C (p.Ser1687Pro)

SNV
Germline

Chr16:3731305

Likely pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394558453

rs_61731407

1 SubmittersRCV001066810

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

SNV
Germline

Chr16:3736718

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA394563638

rs_2052070776

2 SubmittersRCV001055503 RCV005601672

NM_004380.3(CREBBP):c.1360C>T (p.Gln454Ter)

SNV
Germline

Chr16:3782897

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394557965

rs_2053306001

1 SubmittersRCV001058497

NM_004380.3(CREBBP):c.1941+5G>A

SNV
Germline

Chr16:3778695

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA916083479

rs_2053202354

1 SubmittersRCV001057165

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

SNV
Germline

Chr16:3729861

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394557784

rs_2051863859

1 SubmittersRCV001089539

NM_004380.3(CREBBP):c.5599C>T (p.Arg1867Trp)

SNV
Germline

Chr16:3729448

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394555930

rs_398124148

2 SubmittersRCV001091530

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

CA394551680

rs_542970560

2 SubmittersRCV001197022 RCV002561049

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

SNV
Germline

Chr16:3770945

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870093

rs_759041100

3 SubmittersRCV001197473 RCV002480647 RCV005437018

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

SNV
Germline

Chr16:3773794

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA394552855

rs_750178517

3 SubmittersRCV001198921 RCV002560261 RCV002480650

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

SNV
Germline

Chr16:3879855

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA394567769

rs_1211983012

2 SubmittersRCV001198521 RCV003759032

NM_004380.3(CREBBP):c.4393G>A (p.Gly1465Arg)

SNV
Germline

Chr16:3738560

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA394564271

rs_2052127299

1 SubmittersRCV001200398

NM_004380.3(CREBBP):c.4216G>T (p.Asp1406Tyr)

SNV
Germline

Chr16:3739642

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394564821

rs_2052153254

2 SubmittersRCV001218406 RCV003142166

NM_004380.3(CREBBP):c.2464-6T>A

SNV
Germline

Chr16:3770992

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA1139664473

rs_2052993184

1 SubmittersRCV001224110

NM_004380.3(CREBBP):c.5028G>A (p.Trp1676Ter)

SNV
Germline

Chr16:3731336

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394558607

rs_2051909999

1 SubmittersRCV001226464

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

SNV
Unknown

Chr16:3780732

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394556274

rs_2053254528

1 SubmittersRCV001249727

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

SNV
Germline

Chr16:3729690

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA276972266

rs_988251457

2 SubmittersRCV001249612 RCV001847212

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

SNV
Germline

Chr16:3739596

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394564713

rs_200616542

1 SubmittersRCV001249613

NM_004380.3(CREBBP):c.2438C>T (p.Pro813Leu)

SNV
Germline

Chr16:3773776

Conflicting classifications of pathogenicity

Intellectual disability
Condition: not provided
Rubinstein-Taybi syndrome
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA7870139

rs_150767375

4 SubmittersRCV001252205 RCV002462884 RCV003759036 RCV003458656

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

SNV
Germline

Chr16:3751725

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394567958

rs_587783483

2 SubmittersRCV001252207

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

SNV
Germline

Chr16:3731206

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA394558036

rs_2051906390

3 SubmittersRCV001253321 RCV003223712

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

SNV
Unknown

Chr16:3778147

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394554816

rs_2053190428

1 SubmittersRCV001253817

NM_004380.3(CREBBP):c.5224A>G (p.Met1742Val)

SNV
Germline

Chr16:3729823

Likely pathogenic

Rare genetic intellectual disability

No Assertion Criteria Provided

CA394557611

rs_2151312423

1 SubmittersRCV001257011

NM_004380.3(CREBBP):c.5561A>C (p.Gln1854Pro)

SNV
Germline

Chr16:3729486

Likely pathogenic

Intellectual disability

Criteria Provided
Single Submitter

CA394556015

rs_2051852330

1 SubmittersRCV001260744

NM_004380.3(CREBBP):c.5186G>A (p.Cys1729Tyr)

SNV
Germline

Chr16:3729861

Likely pathogenic

Intellectual disability

Criteria Provided
Single Submitter

CA394557786

rs_2051863859

1 SubmittersRCV001260695

NM_004380.3(CREBBP):c.5518G>T (p.Val1840Leu)

SNV
Germline

Chr16:3729529

Conflicting classifications of pathogenicity

Neurodevelopmental abnormality
CREBBP-related disorder

No Assertion Criteria Provided

CA394556132

rs_2051853150

2 SubmittersRCV001264634 RCV004743377

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

SNV
Germline

Chr16:3728797

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Multiple Submitters
No Conflicts

CA394553802

rs_2051825168

2 SubmittersRCV001265550

NM_004380.3(CREBBP):c.5159G>A (p.Cys1720Tyr)

SNV
Germline

Chr16:3731205

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA394558032

rs_2051906316

1 SubmittersRCV001267497

NM_004380.3(CREBBP):c.4495C>G (p.Leu1499Val)

SNV
Germline

Chr16:3736715

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA394563628

rs_2052070559

1 SubmittersRCV001267089

NM_004380.3(CREBBP):c.3882C>G (p.Cys1294Trp)

SNV
Germline

Chr16:3745309

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA394566783

rs_1278147369

1 SubmittersRCV001267253

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

SNV
Germline

Chr16:3729702

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA394557089

rs_2051858361

4 SubmittersRCV001268568 RCV005225341

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

SNV
Germline

Chr16:3770596

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870022

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

Criteria Provided
Conflicting Classifications

CA7868939

rs_759047530

3 SubmittersRCV001332437 RCV003759046 RCV002476549

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

SNV
Germline

Chr16:3879848

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870761

rs_766095612

3 SubmittersRCV001352939 RCV002504567 RCV003771031

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

SNV
Germline

Chr16:3731304

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA394558449

rs_2151316542

2 SubmittersRCV001377314 RCV002504629

NM_004380.3(CREBBP):c.4561-1G>A

SNV
Germline

Chr16:3736204

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394563122

rs_2151327974

1 SubmittersRCV001378472

NM_004380.3(CREBBP):c.2464-1G>A

SNV
Germline

Chr16:3770987

Likely pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394552047

rs_2052993075

1 SubmittersRCV001377152

NM_004380.3(CREBBP):c.1574-2A>G

SNV
Germline

Chr16:3781308

Likely pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394556999

rs_2141248421

1 SubmittersRCV001378596

NM_004380.3(CREBBP):c.802G>T (p.Gly268Ter)

SNV
Germline

Chr16:3810776

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394566230

rs_2053923868

1 SubmittersRCV001384100

NM_004380.3(CREBBP):c.5367C>G (p.Asn1789Lys)

SNV
Germline

Chr16:3729680

Likely pathogenic

See cases

Criteria Provided
Single Submitter

CA394557040

rs_2151311363

1 SubmittersRCV001420341

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

SNV
Germline

Chr16:3728208

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7868985

rs_781438241

3 SubmittersRCV001420558 RCV004743472 RCV002554090

NM_004380.3(CREBBP):c.5315T>A (p.Ile1772Asn)

SNV
Germline

Chr16:3729732

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA394557211

rs_2151311733

1 SubmittersRCV001544860

NM_004380.3(CREBBP):c.6433A>G (p.Met2145Val)

SNV
Germline

Chr16:3728614

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869113

rs_758386187

4 SubmittersRCV001552492 RCV003759059 RCV004039302 RCV003394138

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

SNV
Unknown

Chr16:3728659

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394553500

rs_2151304304

1 SubmittersRCV001563617

NM_004380.3(CREBBP):c.4340C>T (p.Thr1447Ile)

SNV
Germline

Chr16:3738613

Pathogenic/Likely pathogenic

Condition: not provided
Rubinstein-Taybi syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA394564418

rs_2151334254

2 SubmittersRCV001567418 RCV001866006

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

SNV
Germline

Chr16:3729211

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA394555303

rs_1321085895

5 SubmittersRCV002568505 RCV001578063 RCV002359190 RCV004743553 RCV002495924

NM_004380.3(CREBBP):c.4073T>C (p.Phe1358Ser)

SNV
Germline

Chr16:3740459

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869624

rs_762638591

4 SubmittersRCV001866053 RCV001574440 RCV003394150 RCV004039429

NM_004380.3(CREBBP):c.2880+1G>A

SNV
Germline

Chr16:3770569

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA394549949

rs_2141198335

1 SubmittersRCV001575654

NM_004380.3(CREBBP):c.4442A>G (p.Asp1481Gly)

SNV
Germline

Chr16:3736768

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA394563933

rs_2151329858

1 SubmittersRCV001590292

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

SNV
Germline

Chr16:3767920

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869930

rs_762277548

2 SubmittersRCV001594162 RCV005014599

NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys)

SNV
Germline

Chr16:3767765

Conflicting classifications of pathogenicity

CREBBP-related disorder
Condition: not provided
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7869911

rs_555109138

4 SubmittersRCV003980813 RCV001618131 RCV002539568

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

SNV
Germline

Chr16:3778187

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA720710965

rs_1482514446

4 SubmittersRCV001664956 RCV004743560 RCV005005984 RCV003759062

NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met)

SNV
Germline

Chr16:3731829

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Rubinstein-Taybi syndrome
Tip-toe gait
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA7869416

rs_766085073

5 SubmittersRCV001658799 RCV002246449 RCV002539614 RCV003319995 RCV004743561

NM_004380.3(CREBBP):c.4948G>A (p.Val1650Ile)

SNV
Germline

Chr16:3731416

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7869372

rs_776549587

3 SubmittersRCV001658959 RCV002539622

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

SNV
Germline

Chr16:3767737

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA277006799

rs_942848385

4 SubmittersRCV001658967 RCV002539623 RCV005540476 RCV002488449

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

SNV
Germline

Chr16:3729117

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869224

rs_754429038

4 SubmittersRCV001708176 RCV003759063 RCV004743562 RCV005014617

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

SNV
Germline

Chr16:3770852

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870068

rs_771016864

6 SubmittersRCV001756480 RCV002496068 RCV001882821 RCV003931312 RCV002539869

NM_004380.3(CREBBP):c.2410G>A (p.Gly804Arg)

SNV
Germline

Chr16:3773804

Conflicting classifications of pathogenicity

Condition: not provided
CREBBP-related disorder
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7870144

rs_754981072

3 SubmittersRCV001756500 RCV003407785 RCV002538742

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

CA394553635

rs_199821421

1 SubmittersRCV001754541

NM_004380.3(CREBBP):c.7182C>T (p.Ser2394=)

SNV
Germline

Chr16:3727865

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA276971046

rs_934317603

2 SubmittersRCV001761012 RCV002540406

NM_004380.3(CREBBP):c.973A>T (p.Met325Leu)

SNV
Germline

Chr16:3810605

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7870553

rs_747990896

2 SubmittersRCV001774461 RCV004980665

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

SNV
Germline

Chr16:3740399

Pathogenic

Neurodevelopmental disorder

Criteria Provided
Single Submitter

CA394565195

rs_121434626

1 SubmittersRCV001780057

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

SNV
Germline

Chr16:3777630

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870248

rs_141098117

4 SubmittersRCV001787528 RCV003594157 RCV005014665

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

SNV
Germline

Chr16:3773911

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870165

rs_754386072

3 SubmittersRCV001806591 RCV002478034 RCV003759076

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

SNV
Germline

Chr16:3758050

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA276997994

rs_866703165

1 SubmittersRCV001807959

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

SNV
Germline

Chr16:3744936

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394566640

rs_2151354104

1 SubmittersRCV001814883

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

SNV
Germline

Chr16:3727825

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7868932

rs_372005280

5 SubmittersRCV001819627 RCV003416476 RCV005095256 RCV004598151 RCV005014677

NM_004380.3(CREBBP):c.2635C>T (p.Pro879Ser)

SNV
Germline

Chr16:3770815

Conflicting classifications of pathogenicity

not specified
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7870060

rs_779479811

2 SubmittersRCV001817937 RCV002542706

NM_004380.3(CREBBP):c.5600G>T (p.Arg1867Leu)

SNV
Germline

Chr16:3729447

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA394555927

rs_1131691326

1 SubmittersRCV001824507

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

CA7869245

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

CA394558743

rs_1596791996

1 SubmittersRCV001842251

NM_004380.3(CREBBP):c.2881-13G>A

SNV
Germline

Chr16:3769366

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA2573151993

rs_751913060

1 SubmittersRCV001912665

NM_004380.3(CREBBP):c.4480C>T (p.Pro1494Ser)

SNV
Germline

Chr16:3736730

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394563695

rs_199817036

1 SubmittersRCV001884465

NM_004380.3(CREBBP):c.3425T>C (p.Leu1142Pro)

SNV
Germline

Chr16:3757993

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394568972

rs_2151383792

1 SubmittersRCV001930793

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

SNV
Germline

Chr16:3729251

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869243

rs_755609198

4 SubmittersRCV001943718 RCV003407954 RCV004743654 RCV005016849

NM_004380.3(CREBBP):c.4395-2A>C

SNV
Germline

Chr16:3736817

Likely pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394564058

rs_2151330226

1 SubmittersRCV002017432

NM_004380.3(CREBBP):c.4561-2A>T

SNV
Germline

Chr16:3736205

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394563131

rs_2151327978

1 SubmittersRCV001975149

NM_004380.3(CREBBP):c.5782C>T (p.Gln1928Ter)

SNV
Germline

Chr16:3729265

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394555530

rs_2151308298

1 SubmittersRCV002035383

NM_004380.3(CREBBP):c.1618C>T (p.Gln540Ter)

SNV
Germline

Chr16:3781262

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394556891

rs_398124138

1 SubmittersRCV002007528

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

SNV
Germline

Chr16:3757377

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394568524

rs_1596852670

1 SubmittersRCV002011725

NM_004380.3(CREBBP):c.1824C>G (p.Leu608=)

SNV
Germline

Chr16:3778817

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Inborn genetic diseases
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA276973995

rs_753242611

3 SubmittersRCV001960014 RCV004612014 RCV004743666

NM_004380.3(CREBBP):c.5348G>T (p.Cys1783Phe)

SNV
Germline

Chr16:3729699

Likely pathogenic

Tip-toe gait

Criteria Provided
Single Submitter

CA394557083

rs_2151311520

1 SubmittersRCV002052282

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

SNV
Germline

Chr16:3778711

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394555132

rs_2141237064

1 SubmittersRCV002077368

NM_004380.3(CREBBP):c.2668A>C (p.Thr890Pro)

SNV
Germline

Chr16:3770782

Conflicting classifications of pathogenicity

Condition: not provided
CREBBP-related disorder
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7870053

rs_370012973

4 SubmittersRCV002211341 RCV003408168 RCV003594169

NM_004380.3(CREBBP):c.5172+15C>T

SNV
Germline

Chr16:3731177

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA2573151981

rs_1567265093

2 SubmittersRCV002224951 RCV005095771

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

SNV
Germline

Chr16:3749631

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394567311

rs_267606752

1 SubmittersRCV002226836

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

SNV
Germline

Chr16:3729337

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394555696

rs_2151308835

1 SubmittersRCV002226990

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

SNV
Germline

Chr16:3738648

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394564554

rs_928061320

1 SubmittersRCV002226996

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

SNV
Germline

Chr16:3731195

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA394557997

rs_146718571

2 SubmittersRCV002249840 RCV005052854

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

SNV
Germline

Chr16:3757933

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869804

rs_148166625

4 SubmittersRCV002247112 RCV003896086 RCV005095839 RCV002481054

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

SNV
Germline

Chr16:3740550

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394565527

rs_2151341377

1 SubmittersRCV002250932

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

SNV
Germline

Chr16:3736791

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869519

rs_370689343

2 SubmittersRCV002266677 RCV003096046

NM_004380.3(CREBBP):c.223C>T (p.Arg75Ter)

SNV
Germline/somatic

Chr16:3850872

Pathogenic

Abnormal cerebral morphology
Condition: not provided
CREBBP-related disorder
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA394562067

rs_2141496166

4 SubmittersRCV002276337 RCV002466753 RCV003403768 RCV004673656

NM_004380.3(CREBBP):c.5439C>G (p.Asn1813Lys)

SNV
Germline

Chr16:3729608

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA394556389

rs_372253007

1 SubmittersRCV002276022

NM_004380.3(CREBBP):c.1217-7G>A

SNV
Germline

Chr16:3792101

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA2202953734

rs_2053519519

3 SubmittersRCV002278919 RCV003096293 RCV003896106

NM_004380.3(CREBBP):c.5558A>C (p.Gln1853Pro)

SNV
Germline

Chr16:3729489

Pathogenic/Likely pathogenic

Menke-Hennekam syndrome 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA394556023

rs_933672395

2 SubmittersRCV002280359 RCV003164411

NM_004380.3(CREBBP):c.5513G>A (p.Cys1838Tyr)

SNV
Germline

Chr16:3729534

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA394556145

rs_1596787407

1 SubmittersRCV002284749

NM_004380.3(CREBBP):c.5356C>G (p.Arg1786Gly)

SNV
Germline

Chr16:3729691

Likely pathogenic

Menke-Hennekam syndrome 1

Criteria Provided
Single Submitter

CA394557063

rs_1555471394

1 SubmittersRCV002285198

NM_004380.3(CREBBP):c.3200G>A (p.Ser1067Asn)

SNV
Germline

Chr16:3767770

Conflicting classifications of pathogenicity

Inborn genetic diseases
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA394570543

rs_1315293522

2 SubmittersRCV002443354 RCV003099289

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

SNV
Germline

Chr16:3728910

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869177

rs_753688167

4 SubmittersRCV002360360 RCV003594225 RCV005019187 RCV003408247

NM_004380.3(CREBBP):c.6452G>T (p.Arg2151Leu)

SNV
Germline

Chr16:3728595

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869105

rs_749783719

4 SubmittersRCV003418471 RCV005096944 RCV004721055 RCV002361854

NM_004380.3(CREBBP):c.6763C>T (p.Pro2255Ser)

SNV
Germline

Chr16:3728284

Conflicting classifications of pathogenicity

Inborn genetic diseases
CREBBP-related disorder
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7869007

rs_754396803

3 SubmittersRCV002369283 RCV004744353 RCV003759151

NM_004380.3(CREBBP):c.743C>T (p.Pro248Leu)

SNV
Germline

Chr16:3850352

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
not specified
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA7870621

rs_374499169

4 SubmittersRCV002385065 RCV003418477 RCV003388114 RCV004744356

NM_004380.3(CREBBP):c.775G>T (p.Ala259Ser)

SNV
Germline

Chr16:3850320

Conflicting classifications of pathogenicity

Inborn genetic diseases
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA7870609

rs_750216784

3 SubmittersRCV002409713 RCV003103437 RCV004744357

NM_004380.3(CREBBP):c.942C>G (p.Ile314Met)

SNV
Germline

Chr16:3810636

Conflicting classifications of pathogenicity

Inborn genetic diseases
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7870560

rs_772188901

2 SubmittersRCV002373996 RCV003759655

NM_004380.3(CREBBP):c.1504C>T (p.Pro502Ser)

SNV
Germline

Chr16:3782753

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA276977018

rs_973479623

5 SubmittersRCV002389978 RCV003146558 RCV003418497 RCV003095258

NM_004380.3(CREBBP):c.2501A>G (p.Asn834Ser)

SNV
Germline

Chr16:3770949

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA394551905

rs_1205756499

2 SubmittersRCV003101895 RCV002455618

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

SNV
Germline

Chr16:3850860

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870719

rs_752992134

3 SubmittersRCV002448524 RCV003759728 RCV005008582

NM_004380.3(CREBBP):c.2365G>A (p.Ala789Thr)

SNV
Germline

Chr16:3773849

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7870152

rs_746728741

2 SubmittersRCV002450139 RCV003146564

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

SNV
Germline

Chr16:3770955

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870096

rs_755952440

3 SubmittersRCV004744365 RCV005019202 RCV002430992

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

SNV
Germline

Chr16:3770640

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870037

rs_766849648

3 SubmittersRCV002441702 RCV005098299 RCV005019204

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

SNV
Germline

Chr16:3739607

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394564738

rs_61731412

1 SubmittersRCV002471646

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

SNV
Germline

Chr16:3729364

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394555756

rs_2151309006

1 SubmittersRCV002470191

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

SNV
Germline

Chr16:3729783

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869302

rs_141069312

3 SubmittersRCV003076657 RCV003410062 RCV005019610

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

SNV
Germline

Chr16:3758916

Pathogenic

Rubinstein-Taybi syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA394569552

rs_2151385663

3 SubmittersRCV003064314 RCV003320911

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

SNV
Germline

Chr16:3850920

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870728

rs_747862621

2 SubmittersRCV003086185 RCV005019659

NM_004380.3(CREBBP):c.4844A>G (p.Asn1615Ser)

SNV
Germline

Chr16:3731822

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
CREBBP-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA7869415

rs_372308925

3 SubmittersRCV003079696 RCV003916741 RCV004526225

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

SNV
Germline

Chr16:3731871

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869422

rs_766942126

2 SubmittersRCV003069068 RCV005019645

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

SNV
Germline

Chr16:3727852

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7868936

rs_369215519

4 SubmittersRCV002588325 RCV003963661 RCV005021583 RCV004978617

NM_004380.3(CREBBP):c.140A>G (p.Asn47Ser)

SNV
Germline

Chr16:3850955

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA7870730

rs_536856848

2 SubmittersRCV003086577 RCV003420335

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

SNV
Germline

Chr16:3767720

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869901

rs_751237748

2 SubmittersRCV002624063 RCV005021632

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

SNV
Germline

Chr16:3850807

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870702

rs_370300481

3 SubmittersRCV002628969 RCV005021637 RCV004744624

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

SNV
Germline

Chr16:3780830

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870369

rs_770666980

2 SubmittersRCV002633934 RCV005021647

NM_004380.3(CREBBP):c.5828C>T (p.Pro1943Leu)

SNV
Germline

Chr16:3729219

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA7869242

rs_780545388

3 SubmittersRCV002511824 RCV003594308 RCV004744371

NM_004380.3(CREBBP):c.2585C>T (p.Thr862Met)

SNV
Germline

Chr16:3770865

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7870071

rs_772653113

2 SubmittersRCV003111831 RCV005412513

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

SNV
Germline

Chr16:3774588

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870204

rs_376103794

2 SubmittersRCV002586171 RCV005019239

NM_004380.3(CREBBP):c.1556G>A (p.Arg519Lys)

SNV
Germline

Chr16:3782701

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394557180

rs_1324562194

2 SubmittersRCV002696282 RCV003146609

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

SNV
Germline

Chr16:3773867

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870159

rs_144200709

2 SubmittersRCV002690226 RCV005019332

NM_004380.3(CREBBP):c.6478G>A (p.Ala2160Thr)

SNV
Germline

Chr16:3728569

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394552628

rs_1213106224

2 SubmittersRCV002730316 RCV003418597

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

SNV
Germline

Chr16:3728937

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA394554202

rs_1481703137

3 SubmittersRCV002770977 RCV004725377 RCV005019397

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

SNV
Germline

Chr16:3773935

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870174

rs_763032094

2 SubmittersRCV002751551 RCV005019372

NM_004380.3(CREBBP):c.2463+4C>T

SNV
Germline

Chr16:3773747

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
CREBBP-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7870132

rs_752289713

3 SubmittersRCV002771153 RCV004744450 RCV005535424

NM_004380.3(CREBBP):c.2663C>T (p.Pro888Leu)

SNV
Germline

Chr16:3770787

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7870055

rs_753048905

2 SubmittersRCV002871218 RCV004765580

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

SNV
Germline

Chr16:3727840

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA394550308

rs_1379999620

2 SubmittersRCV002871300 RCV005019417

NM_004380.3(CREBBP):c.3375T>G (p.Tyr1125Ter)

SNV
Germline

Chr16:3758043

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394569189

rs_2151384150

1 SubmittersRCV002893887

NM_004380.3(CREBBP):c.4471C>T (p.Gln1491Ter)

SNV
Germline

Chr16:3736739

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394563756

rs_201156486

1 SubmittersRCV002913817

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

SNV
Germline

Chr16:3728315

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869014

rs_201356785

6 SubmittersRCV002913825 RCV003455600 RCV004973702 RCV004744469 RCV005425008

NM_004380.3(CREBBP):c.6343A>G (p.Met2115Val)

SNV
Germline

Chr16:3728704

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869136

rs_150774470

4 SubmittersRCV002900231 RCV002903614 RCV003409957 RCV003963401

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

SNV
Germline

Chr16:3728218

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7868990

rs_771721926

2 SubmittersRCV002904786 RCV005019469

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

SNV
Germline

Chr16:3770913

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870089

rs_371282657

3 SubmittersRCV002932216 RCV005019461 RCV004744475

NM_004380.3(CREBBP):c.6457G>A (p.Gly2153Ser)

SNV
Germline

Chr16:3728590

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
CREBBP-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7869102

rs_370693698

3 SubmittersRCV002948524 RCV003409982 RCV003377810

NM_004380.3(CREBBP):c.85+2T>G

SNV
Germline

Chr16:3879830

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394567656

rs_77109850

1 SubmittersRCV002948291

NM_004380.3(CREBBP):c.6930G>T (p.Gln2310His)

SNV
Germline

Chr16:3728117

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA7868978

rs_764944681

2 SubmittersRCV002974854 RCV003409991

NM_004380.3(CREBBP):c.3235C>T (p.Gln1079Ter)

SNV
Germline

Chr16:3767735

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394570412

rs_2141181339

1 SubmittersRCV003031172

NM_004380.3(CREBBP):c.2283+1G>T

SNV
Germline

Chr16:3774568

Likely pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394553160

rs_2141219467

1 SubmittersRCV003018646

NM_004380.3(CREBBP):c.1327C>T (p.Gln443Ter)

SNV
Germline

Chr16:3791984

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394560450

rs_2053517680

1 SubmittersRCV003040308

NM_004380.3(CREBBP):c.7006G>A (p.Ala2336Thr)

SNV
Germline

Chr16:3728041

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA276971136

rs_543811185

2 SubmittersRCV003030383 RCV004978489

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

SNV
Germline

Chr16:3810614

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA277007739

rs_587778212

4 SubmittersRCV002686846 RCV003420409 RCV005011103 RCV005099468

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

SNV
Germline

Chr16:3728505

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869084

rs_768978068

2 SubmittersRCV002673497 RCV005021678

NM_004380.3(CREBBP):c.6271A>T (p.Lys2091Ter)

SNV
Germline

Chr16:3728776

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA394553754

rs_2548346230

1 SubmittersRCV002864173

NM_004380.3(CREBBP):c.2056C>T (p.Pro686Ser)

SNV
Germline

Chr16:3778068

Conflicting classifications of pathogenicity

Inborn genetic diseases
CREBBP-related disorder
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7870290

rs_763996233

3 SubmittersRCV002891988 RCV004741526 RCV005099803

NM_004380.3(CREBBP):c.2266A>G (p.Met756Val)

SNV
Germline

Chr16:3774586

Conflicting classifications of pathogenicity

Inborn genetic diseases
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7870203

rs_758756046

2 SubmittersRCV002753310 RCV005099162

NM_004380.3(CREBBP):c.4021C>T (p.Arg1341Ter)

SNV
Germline

Chr16:3740511

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA394565439

rs_1490222282

1 SubmittersRCV003129355

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

SNV
Germline

Chr16:3757901

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA394568751

rs_2151383341

3 SubmittersRCV003136570 RCV004594680

NM_004380.3(CREBBP):c.5831C>T (p.Ala1944Val)

SNV
Germline

Chr16:3729216

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7869241

rs_751146607

2 SubmittersRCV003145894 RCV005099395

NM_004380.3(CREBBP):c.793G>A (p.Ala265Thr)

SNV
Germline

Chr16:3850302

Conflicting classifications of pathogenicity

Condition: not provided
CREBBP-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7870606

rs_753319377

3 SubmittersRCV003143345 RCV003396921 RCV003368060

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

CA394553982

rs_1467929364

1 SubmittersRCV003148514

NM_004380.3(CREBBP):c.6786C>T (p.Gly2262=)

SNV
Germline

Chr16:3728261

Conflicting classifications of pathogenicity

Condition: not provided
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA7868999

rs_374379164

3 SubmittersRCV003154160 RCV003778918 RCV004741560

NM_004380.3(CREBBP):c.2921C>A (p.Thr974Asn)

SNV
Germline

Chr16:3769313

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA394549853

rs_1429500736

2 SubmittersRCV003155807 RCV004763609

NM_004380.3(CREBBP):c.2641C>T (p.Gln881Ter)

SNV
Germline

Chr16:3770809

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA394551352

rs_2141202384

1 SubmittersRCV003222858

NM_004380.3(CREBBP):c.2360C>T (p.Ala787Val)

SNV
Germline

Chr16:3773854

Conflicting classifications of pathogenicity

not specified
Rubinstein-Taybi syndrome
CREBBP-related disorder

Criteria Provided
Conflicting Classifications

CA7870155

rs_117910358

3 SubmittersRCV003226754 RCV003779814 RCV004725690

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

SNV
Unknown

Chr16:3778010

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394554229

rs_2141232415

1 SubmittersRCV003314281

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

SNV
Unknown

Chr16:3793508

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA394563185

rs_2548464208

1 SubmittersRCV003315205

NM_004380.3(CREBBP):c.6133C>T (p.Gln2045Ter)

SNV
Germline

Chr16:3728914

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA394554128

rs_2151305935

1 SubmittersRCV003319610

NM_004380.3(CREBBP):c.6310C>T (p.Arg2104Cys)

SNV
Germline

Chr16:3728737

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA394553667

rs_1489860615

1 SubmittersRCV003330023

NM_004380.3(CREBBP):c.5168G>T (p.Cys1723Phe)

SNV
Germline

Chr16:3731196

Likely pathogenic

Menke-Hennekam syndrome 1

No Assertion Criteria Provided

CA394558006

rs_794727535

1 SubmittersRCV003333820

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

CA394556107

rs_1596910004

1 SubmittersRCV003388801

NM_004380.3(CREBBP):c.3615G>A (p.Glu1205=)

SNV
Germline

Chr16:3757371

Conflicting classifications of pathogenicity

CREBBP-related disorder
Rubinstein-Taybi syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7869779

rs_759826090

3 SubmittersRCV003414080 RCV003778196 RCV005412549

NM_004380.3(CREBBP):c.5357G>C (p.Arg1786Pro)

SNV
Germline

Chr16:3729690

Likely pathogenic

CREBBP-related disorder

Criteria Provided
Single Submitter

CA394557061

rs_988251457

1 SubmittersRCV003402462

NM_004380.3(CREBBP):c.6155G>A (p.Arg2052Gln)

SNV
Germline

Chr16:3728892

Conflicting classifications of pathogenicity

CREBBP-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA276971747

rs_748936007

2 SubmittersRCV003397663 RCV005402032

NM_004380.3(CREBBP):c.4277C>T (p.Thr1426Met)

SNV
Germline

Chr16:3739581

Conflicting classifications of pathogenicity

CREBBP-related disorder
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7869575

rs_145988918

2 SubmittersRCV003419083 RCV003759841

NM_004380.3(CREBBP):c.5972C>T (p.Pro1991Leu)

SNV
Germline

Chr16:3729075

Conflicting classifications of pathogenicity

CREBBP-related disorder
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7869208

rs_776500881

2 SubmittersRCV003402741 RCV003759840

NM_004380.3(CREBBP):c.5608G>C (p.Ala1870Pro)

SNV
Germline

Chr16:3729439

Likely pathogenic

CREBBP-related disorder

Criteria Provided
Single Submitter

CA394555912

rs_1411086593

1 SubmittersRCV003403027

NM_004380.3(CREBBP):c.5934C>G (p.Asn1978Lys)

SNV
Germline

Chr16:3729113

Conflicting classifications of pathogenicity

CREBBP-related disorder
Rubinstein-Taybi syndrome

Criteria Provided
Conflicting Classifications

CA7869222

rs_754282387

2 SubmittersRCV003408435 RCV003759839

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

SNV
Germline

Chr16:3850592

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870660

rs_772863270

3 SubmittersRCV003404954 RCV003778351 RCV005012943

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

SNV
Germline

Chr16:3850632

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870669

rs_780333650

3 SubmittersRCV003417617 RCV003778394 RCV005012952

NM_004380.3(CREBBP):c.2464-2A>G

SNV
Germline

Chr16:3770988

Likely pathogenic

not specified

Criteria Provided
Single Submitter

CA394552051

rs_2141204933

1 SubmittersRCV003488823

NM_004380.3(CREBBP):c.5902C>T (p.Gln1968Ter)

SNV
Germline

Chr16:3729145

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394555039

rs_2151307419

1 SubmittersRCV003595018

NM_004380.3(CREBBP):c.6131C>T (p.Ala2044Val)

SNV
Germline

Chr16:3728916

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7869178

rs_765415312

2 SubmittersRCV003595470 RCV004614463

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

SNV
Germline

Chr16:3774708

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA276971192

rs_979097895

2 SubmittersRCV003595303 RCV005014748

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

SNV
Germline

Chr16:3780820

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870367

rs_370489037

3 SubmittersRCV003595588 RCV004741638 RCV005013030

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

SNV
Germline

Chr16:3767756

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA277006808

rs_947598568

2 SubmittersRCV003593410 RCV005014783

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

SNV
Germline

Chr16:3770662

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA394550767

rs_1464234725

4 SubmittersRCV003593520 RCV004741641 RCV005014790 RCV004980883

NM_004380.3(CREBBP):c.4615T>A (p.Tyr1539Asn)

SNV
Germline

Chr16:3736149

Likely pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394562711

rs_2548362072

1 SubmittersRCV003593782

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

SNV
Germline

Chr16:3731470

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA394559126

rs_587783501

3 SubmittersRCV003760060 RCV005235725 RCV005256467

NM_004380.3(CREBBP):c.2924C>T (p.Pro975Leu)

SNV
Germline

Chr16:3769310

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
not specified

Criteria Provided
Conflicting Classifications

CA394549847

rs_1466424348

2 SubmittersRCV003760133 RCV005435241

NM_004380.3(CREBBP):c.685C>T (p.Pro229Ser)

SNV
Germline

Chr16:3850410

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Menke-Hennekam syndrome 1

Criteria Provided
Conflicting Classifications

CA7870631

rs_771371997

2 SubmittersRCV003760669 RCV004798983

NM_004380.3(CREBBP):c.2803C>T (p.Gln935Ter)

SNV
Germline

Chr16:3770647

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394550701

rs_2141199590

1 SubmittersRCV003760884

NM_004380.3(CREBBP):c.6307C>T (p.Gln2103Ter)

SNV
Germline

Chr16:3728740

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394553673

rs_1596784178

1 SubmittersRCV003760965

NM_004380.3(CREBBP):c.2836C>T (p.Gln946Ter)

SNV
Germline

Chr16:3770614

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394550039

rs_2141199028

1 SubmittersRCV003760941

NM_004380.3(CREBBP):c.733C>T (p.Gln245Ter)

SNV
Germline

Chr16:3850362

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394559335

rs_2548544025

1 SubmittersRCV003758504

NM_004380.3(CREBBP):c.6227C>A (p.Ser2076Ter)

SNV
Germline

Chr16:3728820

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

CA394553853

rs_2151305375

1 SubmittersRCV003758594

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

SNV
Germline

Chr16:3729137

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869230

rs_749069343

3 SubmittersRCV003760214 RCV004741686 RCV005014901

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

SNV
Germline

Chr16:3731859

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869420

rs_375557093

4 SubmittersRCV003760247 RCV004741690 RCV005014906 RCV005439162

NM_004380.3(CREBBP):c.2224C>T (p.Arg742Cys)

SNV
Germline

Chr16:3774628

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7870210

rs_778882385

2 SubmittersRCV003760348 RCV005545090

NM_004380.3(CREBBP):c.700G>A (p.Ala234Thr)

SNV
Germline

Chr16:3850395

Conflicting classifications of pathogenicity

Rubinstein-Taybi syndrome
CREBBP-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA394559467

rs_1285192047

3 SubmittersRCV003874733 RCV003981181 RCV004783131

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

SNV
Germline

Chr16:3773907

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7870164

rs_778251901

4 SubmittersRCV003904398 RCV005101680 RCV004767510 RCV005015098

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

SNV
Germline

Chr16:3728568

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7869098

rs_779980394

3 SubmittersRCV003899317 RCV005064717 RCV005015088

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

SNV
Germline

Chr16:3778818

Pathogenic

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

Criteria Provided
Single Submitter

CA394556105

rs_1596910004

2 SubmittersRCV003911583 RCV005603860

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

SNV
Germline

Chr16:3736739

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

CA276980080

rs_201156486

1 SubmittersRCV003990437

NM_004380.3(CREBBP):c.1948T>C (p.Tyr650His)

SNV
Germline

Chr16:3778176

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA394554962

rs_2141234826

1 SubmittersRCV004367220

NM_004380.3(CREBBP):c.5321G>A (p.Arg1774His)

SNV
Germline

Chr16:3729726

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2151311712

1 SubmittersRCV004590842

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

SNV
Germline

Chr16:3810677

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

rs_2548493542

1 SubmittersRCV004595831

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

SNV
Germline

Chr16:3770761

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

1 SubmittersRCV004596023

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

SNV
Germline/somatic

Chr16:3736702

Likely pathogenic

Neoplasm
Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

2 SubmittersRCV004666591 RCV004720548

NM_004380.3(CREBBP):c.472C>T (p.Gln158Ter)

SNV
Germline

Chr16:3850623

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004719515

NM_004380.3(CREBBP):c.2158+1G>A

SNV
Germline

Chr16:3777612

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004720139

NM_004380.3(CREBBP):c.2254C>T (p.Gln752Ter)

SNV
Germline

Chr16:3774598

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004722232

NM_004380.3(CREBBP):c.4223G>T (p.Cys1408Phe)

SNV
Germline

Chr16:3739635

Likely pathogenic

CREBBP-related disorder

No Assertion Criteria Provided

1 SubmittersRCV004724386

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

SNV
Germline

Chr16:3767910

Likely pathogenic

CREBBP-related disorder

No Assertion Criteria Provided

1 SubmittersRCV004727890

NM_004380.3(CREBBP):c.2095C>T (p.Gln699Ter)

SNV
Germline

Chr16:3778029

Likely pathogenic

CREBBP-related disorder

No Assertion Criteria Provided

1 SubmittersRCV004730207

NM_004380.3(CREBBP):c.4391T>A (p.Leu1464Ter)

SNV
Germline

Chr16:3738562

Likely pathogenic

CREBBP-related disorder

No Assertion Criteria Provided

1 SubmittersRCV004726302

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

SNV
Germline

Chr16:3740429

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004742736 RCV005017236 RCV005103686

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

SNV
Germline

Chr16:3770896

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

4 SubmittersRCV004743151 RCV005433531 RCV005017243 RCV005103753

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

SNV
Germline

Chr16:3729418

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004764657 RCV005059912

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

SNV
Germline

Chr16:3792010

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

1 SubmittersRCV004795264

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

SNV
Germline

Chr16:3749622

Likely pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV004795459

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

SNV
Germline

Chr16:3757337

Pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

1 SubmittersRCV004795718

NM_004380.3(CREBBP):c.22G>T (p.Gly8Ter)

SNV
Germline

Chr16:3879895

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004798247

NM_004380.3(CREBBP):c.3G>T (p.Met1Ile)

SNV
Germline

Chr16:3879914

Pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

1 SubmittersRCV004979189

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

SNV
Germline

Chr16:3729050

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005015385 RCV005112636

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

SNV
Germline

Chr16:3729055

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005015386 RCV005112637

NM_004380.3(CREBBP):c.4560+1G>A

SNV
Germline

Chr16:3736649

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005054584

NM_004380.3(CREBBP):c.4561-2A>G

SNV
Germline

Chr16:3736205

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005141069

NM_004380.3(CREBBP):c.1476C>A (p.Tyr492Ter)

SNV
Germline

Chr16:3782781

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005177049

NM_004380.3(CREBBP):c.3128C>G (p.Ser1043Ter)

SNV
Germline

Chr16:3767842

Pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005203554

NM_004380.3(CREBBP):c.4281-2A>T

SNV
Germline

Chr16:3738674

Likely pathogenic

Rubinstein-Taybi syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005207627

NM_004380.3(CREBBP):c.5175C>G (p.Asp1725Glu)

SNV
Germline

Chr16:3729872

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005205713

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

SNV
Germline

Chr16:3729850

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

1 SubmittersRCV005236983

NM_004380.3(CREBBP):c.1318C>T (p.Arg440Ter)

SNV
Germline

Chr16:3791993

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005241778

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

SNV
Germline

Chr16:3773932

Likely pathogenic

Rubinstein-Taybi syndrome due to CREBBP mutations

Criteria Provided
Single Submitter

1 SubmittersRCV005254254

NM_004380.3(CREBBP):c.5102A>G (p.Asp1701Gly)

SNV
Germline

Chr16:3731262

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005257765

NM_004380.3(CREBBP):c.4393G>C (p.Gly1465Arg)

SNV
Germline

Chr16:3738560

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005429758

NM_004380.3(CREBBP):c.2283+1G>C

SNV
Germline

Chr16:3774568

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005604706

NM_004380.3(CREBBP):c.5185T>C (p.Cys1729Arg)

SNV
Germline

Chr16:3729862

Likely pathogenic

Cone-rod dystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV005625119

NM_004380.3(CREBBP):c.5128T>A (p.Cys1710Ser)

SNV
Germline

Chr16:3731236

Likely pathogenic

Intellectual disability

Criteria Provided
Single Submitter

1 SubmittersRCV005625120

NM_004380.3(CREBBP):c.4474A>G (p.Lys1492Glu)

SNV
Germline

Chr16:3736736

Likely pathogenic

Intellectual disability

Criteria Provided
Single Submitter

1 SubmittersRCV005625121