Total 389 pathogenic variants reported for Rubinstein-Taybi syndrome due to CREBBP mutations 
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 SubmittersRCV000010037RCV005249986

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 SubmittersRCV000010039RCV004609293

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 SubmittersRCV000010040RCV000255660RCV001260694RCV001267080RCV001813970RCV002496320RCV004742224

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 SubmittersRCV000081028RCV000145712RCV000872923RCV001610371RCV002311602RCV003974969

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 SubmittersRCV000081029RCV002265601RCV002381401RCV002514423RCV004742248

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 SubmittersRCV000081037RCV001854429RCV002477232RCV002514426RCV003974970

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 SubmittersRCV000081051RCV000499536

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 SubmittersRCV000081052RCV000700948RCV002228327RCV004668773

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 SubmittersRCV000081061RCV000145767RCV000224624RCV001085724RCV002311611RCV003982877

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 SubmittersRCV000120606RCV002515834RCV003415910RCV005016410

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 SubmittersRCV000120608RCV002514628RCV004742264RCV005016411

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 SubmittersRCV000120609RCV002515836RCV003952591RCV005016412

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 SubmittersRCV000145780RCV003593919RCV004975296RCV005016465RCV005625317

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 SubmittersRCV000145778RCV003456371RCV002492531RCV003758698RCV003390831

NM_004380.3(CREBBP):c.6088C>T (p.Gln2030Ter) SNV
Germline
Chr16:3728959 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA271436 rs_587783510

1 SubmittersRCV000145775

NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter) SNV
Germline
Chr16:3729226 Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA271429 rs_587783505

2 SubmittersRCV000145769RCV004796043

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 SubmittersRCV000145768RCV000177560RCV001087896RCV002221200RCV002354332RCV003935243

NM_004380.3(CREBBP):c.5050T>C (p.Ser1684Pro) SNV
Germline
Chr16:3731314 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA271427 rs_587783503

1 SubmittersRCV000145765

NM_004380.3(CREBBP):c.4508A>G (p.Tyr1503Cys) SNV
Germline
Chr16:3736702 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA271419 rs_587783497

1 SubmittersRCV000145757

NM_004380.3(CREBBP):c.4445A>G (p.Tyr1482Cys) SNV
Germline
Chr16:3736765 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA271417 rs_587783496

1 SubmittersRCV000145756

NM_004380.3(CREBBP):c.4444T>G (p.Tyr1482Asp) SNV
Germline
Chr16:3736766 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA271415 rs_587783495

1 SubmittersRCV000145755

NM_004380.3(CREBBP):c.4398T>A (p.Tyr1466Ter) SNV
Germline
Chr16:3736812 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA271413 rs_147688139

1 SubmittersRCV000145754

NM_004380.3(CREBBP):c.4376A>G (p.Glu1459Gly) SNV
Germline
Chr16:3738577 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA271411 rs_587783494

1 SubmittersRCV000145753

NM_004380.3(CREBBP):c.4281-11C>G SNV
Germline
Chr16:3738683 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA271410 rs_587783493

1 SubmittersRCV000145752

NM_004380.3(CREBBP):c.4226T>C (p.Phe1409Ser) SNV
Germline
Chr16:3739632 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA271408 rs_587783492

1 SubmittersRCV000145750

NM_004380.3(CREBBP):c.4133+1G>A SNV
Germline
Chr16:3740398 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA271407 rs_587783491

1 SubmittersRCV000145749

NM_004380.3(CREBBP):c.4078C>T (p.Arg1360Ter) SNV
Germline
Chr16:3740454 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA271405 rs_587783490

3 SubmittersRCV000145748RCV002464124

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 SubmittersRCV000145741RCV001390957RCV004589638

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 SubmittersRCV000145739RCV000255068RCV001260696RCV002498664RCV005089678

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 SubmittersRCV000145737RCV002228523RCV003895028

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 SubmittersRCV000145736RCV001268616

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 SubmittersRCV000145727RCV003593917RCV005434655

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 SubmittersRCV000145716RCV001824287

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 SubmittersRCV000145711RCV004589637

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 SubmittersRCV000145784RCV005089681

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 SubmittersRCV000145774RCV004724925

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 SubmittersRCV000145718RCV002478406RCV003764886RCV005434654

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 SubmittersRCV000153119RCV000764070RCV002316965RCV003105799RCV004742280

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 SubmittersRCV000177559RCV003416090RCV003593928RCV005016521RCV004799188

NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter) SNV
Unknown
Chr22:41158483 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA275975 rs_565779970

1 SubmittersRCV000990451

NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) SNV
Germline
Chr16:3729433 Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided
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 SubmittersRCV000191076RCV000523539RCV001260745RCV000757968RCV003458352RCV002517032RCV003422092

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 SubmittersRCV000192723RCV001261355

NM_004380.3(CREBBP):c.3436C>T (p.Gln1146Ter) SNV
Germline
Chr16:3757982 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA277030 rs_797045489

1 SubmittersRCV000192840

NM_004380.3(CREBBP):c.86-1G>T SNV
Germline
Chr16:3851010 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA277172 rs_11644721

1 SubmittersRCV000193581

NM_004380.3(CREBBP):c.2T>A (p.Met1Lys) SNV
Germline
Chr16:3879915 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA277198 rs_797045487

1 SubmittersRCV000193780

NM_004380.3(CREBBP):c.5237G>T (p.Gly1746Val) SNV
Germline
Chr16:3729810 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA357158 rs_869312714

1 SubmittersRCV000209852

NM_004380.3(CREBBP):c.4134-1G>T SNV
Germline
Chr16:3739725 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA10602670 rs_886041048

1 SubmittersRCV000258851

NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly) SNV
Germline
Chr16:3736771 Pathogenic/Likely pathogenic Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations
Criteria Provided
Multiple Submitters
No Conflicts
CA10603272 rs_886041286

4 SubmittersRCV000334678RCV000850544

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 SubmittersRCV000261393RCV001256995RCV002250613

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 SubmittersRCV000341039RCV003939977RCV002487207RCV002521902

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 SubmittersRCV000414795RCV000760803RCV003326423

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 SubmittersRCV000415361RCV001198296RCV005090685

NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His) SNV
Germline
Chr16:3738616 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA16602826 rs_1057519884

1 SubmittersRCV004594056

NM_004380.3(CREBBP):c.5336T>C (p.Leu1779Pro) SNV
Germline
Chr16:3729711 Pathogenic/Likely pathogenic Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations
Criteria Provided
Multiple Submitters
No Conflicts
CA16620201 rs_1064796457

2 SubmittersRCV000483007RCV005222963

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 SubmittersRCV000497205RCV000623929

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 SubmittersRCV000501651RCV000579110

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 SubmittersRCV000513559RCV002524961RCV002490864

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 SubmittersRCV002231255RCV002316527RCV003403260RCV002497075

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 SubmittersRCV001268046RCV002231028RCV003157633

NM_001429.4(EP300):c.3262-2A>G SNV
Germline
Chr22:41157167 Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations
CHARGE syndrome
No Assertion Criteria Provided
CA411694508 rs_1555910114

2 SubmittersRCV000578180RCV001034552

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 SubmittersRCV000598406RCV005231144

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 SubmittersRCV000658735RCV001198613RCV003594013

NM_004380.3(CREBBP):c.3061-1G>T SNV
Germline
Chr16:3767910 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA394571150 rs_1555481030

1 SubmittersRCV000661965

NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln) SNV
Germline
Chr16:3729210 Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome
Inborn genetic diseases
CREBBP-related disorder
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Criteria Provided
Conflicting Classifications
CA7869240 rs_765600316

4 SubmittersRCV002233339RCV002352188RCV003420244RCV002485719

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 SubmittersRCV000714678RCV002369985RCV004689865

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 SubmittersRCV000714851RCV002477653RCV002532980

NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser) SNV
Germline
Chr22:41177394 Conflicting classifications of pathogenicity Condition: not provided
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Rubinstein-Taybi syndrome due to CREBBP mutations
Colorectal cancer
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Menke-Hennekam syndrome 2
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10253686 rs_749979249

4 SubmittersRCV000731278RCV002535200RCV002493335RCV004027003

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 SubmittersRCV000731898RCV001868968RCV004742619RCV002485905

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 SubmittersRCV003147541RCV003594027

NM_004380.3(CREBBP):c.3512C>G (p.Thr1171Arg) SNV
Germline
Chr16:3757906 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA394568761 rs_1567287477

1 SubmittersRCV000760233

NM_004380.3(CREBBP):c.85+1G>A SNV
Unknown
Chr16:3879831 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA394567664 rs_1597099388

1 SubmittersRCV000850371

NM_004380.3(CREBBP):c.6436C>T (p.Gln2146Ter) SNV
Unknown
Chr16:3728611 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA394552732 rs_1596783639

1 SubmittersRCV000856797

NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His) SNV
Germline
Chr16:3731373 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA394558748 rs_1596791996

3 SubmittersRCV000856923RCV001784472RCV005021267

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 SubmittersRCV000856912RCV001858527

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 SubmittersRCV000856907RCV002453935

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 SubmittersRCV000856892RCV001234331

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 SubmittersRCV000856891RCV005436190

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 SubmittersRCV000856851RCV001526626RCV005092540

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 SubmittersRCV000856922RCV004726706

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 SubmittersRCV000856913RCV003413671RCV002536209RCV004721656

NM_004380.3(CREBBP):c.3610-1G>C SNV
Germline
Chr16:3757377 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations No Assertion Criteria Provided
CA394568525 rs_1596852670

1 SubmittersRCV000856905

NM_004380.3(CREBBP):c.3610-2A>G SNV
Unknown
Chr16:3757378 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations No Assertion Criteria Provided
CA394568528 rs_1596852674

1 SubmittersRCV000856906

NM_004380.3(CREBBP):c.3060+1G>T SNV
Germline
Chr16:3769173 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations No Assertion Criteria Provided
CA394549562 rs_1596882004

1 SubmittersRCV000856863

NM_004380.3(CREBBP):c.2159-1G>T SNV
Unknown
Chr16:3774694 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations No Assertion Criteria Provided
CA394553441 rs_1596897799

1 SubmittersRCV000856899

NM_004380.3(CREBBP):c.1941+2T>C SNV
Unknown
Chr16:3778698 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations No Assertion Criteria Provided
CA394555073 rs_1596909656

1 SubmittersRCV000856898

NM_004380.3(CREBBP):c.1824-1G>A SNV
Unknown
Chr16:3778818 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations No Assertion Criteria Provided
CA394556108 rs_1596910004

1 SubmittersRCV000856896

NM_004380.3(CREBBP):c.1573+1G>A SNV
Unknown
Chr16:3782683 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations No Assertion Criteria Provided
CA394557104 rs_1596920360

1 SubmittersRCV000856893

NM_004380.3(CREBBP):c.1216+2T>A SNV
Unknown
Chr16:3793384 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations No Assertion Criteria Provided
CA394562029 rs_1596947522

1 SubmittersRCV000856889

NM_004380.3(CREBBP):c.3982+3A>T SNV
Unknown
Chr16:3744891 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA915949080 rs_1596823180

1 SubmittersRCV000989508

NM_004380.3(CREBBP):c.283G>A (p.Val95Met) SNV
Germline
Chr16:3850812 Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided
Rubinstein-Taybi syndrome
Criteria Provided
Conflicting Classifications
CA7870703 rs_756802946

5 SubmittersRCV000989513RCV001655658RCV002550613

NM_001429.4(EP300):c.3624C>G (p.Ile1208Met) SNV
Germline
Chr22:41160675 Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Colorectal cancer
Menke-Hennekam syndrome 2
Criteria Provided
Conflicting Classifications
CA411696396 rs_143660871

3 SubmittersRCV000990452RCV003638728RCV004726762

NM_001429.4(EP300):c.3749G>A (p.Cys1250Tyr) SNV
Unknown
Chr22:41164073 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA411697816 rs_1601629319

1 SubmittersRCV000990454

NM_001429.4(EP300):c.4026G>A (p.Arg1342=) SNV
Germline
Chr22:41168721 Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations
Inborn genetic diseases
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300-related disorder
Condition: not provided
Intellectual disability
Criteria Provided
Conflicting Classifications
CA10253326 rs_146119145

6 SubmittersRCV000990455RCV003346243RCV003638729RCV003906125RCV004584843RCV005626282

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 SubmittersRCV000996194RCV003758953RCV005021307

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 SubmittersRCV001055503RCV005601672

NM_004380.3(CREBBP):c.5186G>C (p.Cys1729Ser) SNV
Germline
Chr16:3729861 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA394557784 rs_2051863859

1 SubmittersRCV001089539

NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met) SNV
Germline
Chr16:3770893 Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome
Criteria Provided
Conflicting Classifications
CA394551680 rs_542970560

2 SubmittersRCV001197022RCV002561049

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 SubmittersRCV001197473RCV002480647RCV005437018

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 SubmittersRCV001198921RCV002560261RCV002480650

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 SubmittersRCV001198521RCV003759032

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 SubmittersRCV001249612RCV001847212

NM_004380.3(CREBBP):c.4262G>T (p.Cys1421Phe) SNV
Germline
Chr16:3739596 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA394564713 rs_200616542

1 SubmittersRCV001249613

NM_004380.3(CREBBP):c.3779+1G>C SNV
Germline
Chr16:3751725 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA394567958 rs_587783483

2 SubmittersRCV001252207

NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg) SNV
Germline
Chr16:3731206 Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA394558036 rs_2051906390

3 SubmittersRCV001253321RCV003223712

NM_004380.3(CREBBP):c.1977C>A (p.Tyr659Ter) SNV
Unknown
Chr16:3778147 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA394554816 rs_2053190428

1 SubmittersRCV001253817

NM_001429.4(EP300):c.1781C>T (p.Thr594Met) SNV
Germline
Chr22:41140160 Conflicting classifications of pathogenicity Multicystic kidney dysplasia
Rubinstein-Taybi syndrome due to CREBBP mutations
Colorectal cancer
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Menke-Hennekam syndrome 2
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300-related disorder
Criteria Provided
Conflicting Classifications
CA10252632 rs_750740148

4 SubmittersRCV001254709RCV002485996RCV002570571RCV003405464

NM_004380.3(CREBBP):c.6250C>T (p.Gln2084Ter) SNV
Germline
Chr16:3728797 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Multiple Submitters
No Conflicts
CA394553802 rs_2051825168

2 SubmittersRCV001265550

NM_004380.3(CREBBP):c.5345C>T (p.Ala1782Val) SNV
Germline
Chr16:3729702 Pathogenic/Likely pathogenic Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations
Criteria Provided
Multiple Submitters
No Conflicts
CA394557089 rs_2051858361

4 SubmittersRCV001268568RCV005225341

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 SubmittersRCV001293919RCV002486106RCV002538429RCV003393959RCV004609724

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 SubmittersRCV001332437RCV003759046RCV002476549

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 SubmittersRCV001352939RCV002504567RCV003771031

NM_001429.4(EP300):c.695G>C (p.Gly232Ala) SNV
Germline
Chr22:41117787 Conflicting classifications of pathogenicity Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations
Colorectal cancer
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Menke-Hennekam syndrome 2
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300-related disorder
Criteria Provided
Conflicting Classifications
CA411681627 rs_1261612920

4 SubmittersRCV001355626RCV002493823RCV002547613RCV003908543

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 SubmittersRCV001377314RCV002504629

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 SubmittersRCV001420558RCV004743472RCV002554090

NM_004380.3(CREBBP):c.6388C>T (p.Gln2130Ter) SNV
Unknown
Chr16:3728659 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA394553500 rs_2151304304

1 SubmittersRCV001563617

NM_004380.3(CREBBP):c.5836C>G (p.Pro1946Ala) SNV
Germline
Chr16:3729211 Conflicting classifications of pathogenicity 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 SubmittersRCV002568505RCV001578063RCV002359190RCV004743553RCV002495924

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 SubmittersRCV001594162RCV005014599

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 SubmittersRCV001664956RCV004743560RCV005005984RCV003759062

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 SubmittersRCV001658967RCV002539623RCV005540476RCV002488449

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 SubmittersRCV001708176RCV003759063RCV004743562RCV005014617

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 SubmittersRCV001756480RCV002496068RCV001882821RCV003931312RCV002539869

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.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 SubmittersRCV001787528RCV003594157RCV005014665

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 SubmittersRCV001806591RCV002478034RCV003759076

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 SubmittersRCV001819627RCV003416476RCV005095256RCV004598151RCV005014677

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 SubmittersRCV001839234RCV002478074RCV002542829RCV003976232

NM_004380.3(CREBBP):c.4991G>T (p.Arg1664Leu) SNV
Germline
Chr16:3731373 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA394558743 rs_1596791996

1 SubmittersRCV001842251

NM_004380.3(CREBBP):c.5796G>A (p.Thr1932=) SNV
Germline
Chr16:3729251 Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome
Condition: not provided
CREBBP-related disorder
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Criteria Provided
Conflicting Classifications
CA7869243 rs_755609198

4 SubmittersRCV001943718RCV003407954RCV004743654RCV005016849

NM_001429.4(EP300):c.454G>A (p.Gly152Ser) SNV
Germline
Chr22:41117546 Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Inborn genetic diseases
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Menke-Hennekam syndrome 2
Colorectal cancer
EP300-related disorder
Criteria Provided
Conflicting Classifications
CA10252254 rs_142758675

4 SubmittersRCV002545689RCV002545418RCV002489936RCV003913423

NM_004380.3(CREBBP):c.1930G>C (p.Ala644Pro) SNV
Germline
Chr16:3778711 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA394555132 rs_2141237064

1 SubmittersRCV002077368

NM_004380.3(CREBBP):c.3832G>C (p.Glu1278Gln) SNV
Germline
Chr16:3749631 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA394567311 rs_267606752

1 SubmittersRCV002226836

NM_004380.3(CREBBP):c.5710C>T (p.Gln1904Ter) SNV
Germline
Chr16:3729337 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA394555696 rs_2151308835

1 SubmittersRCV002226990

NM_004380.3(CREBBP):c.4305T>G (p.Asp1435Glu) SNV
Germline
Chr16:3738648 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA394564554 rs_928061320

1 SubmittersRCV002226996

NM_004380.3(CREBBP):c.5169C>G (p.Cys1723Trp) SNV
Germline
Chr16:3731195 Pathogenic/Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA394557997 rs_146718571

2 SubmittersRCV002249840RCV005052854

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 SubmittersRCV002247112RCV003896086RCV005095839RCV002481054

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 SubmittersRCV002266677RCV003096046

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 SubmittersRCV002360360RCV003594225RCV005019187RCV003408247

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 SubmittersRCV002448524RCV003759728RCV005008582

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 SubmittersRCV004744365RCV005019202RCV002430992

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 SubmittersRCV002441702RCV005098299RCV005019204

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 SubmittersRCV003076657RCV003410062RCV005019610

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 SubmittersRCV003086185RCV005019659

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 SubmittersRCV003069068RCV005019645

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 SubmittersRCV002588325RCV003963661RCV005021583RCV004978617

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 SubmittersRCV002624063RCV005021632

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 SubmittersRCV002628969RCV005021637RCV004744624

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 SubmittersRCV002633934RCV005021647

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 SubmittersRCV002586171RCV005019239

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 SubmittersRCV002690226RCV005019332

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 SubmittersRCV002770977RCV004725377RCV005019397

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 SubmittersRCV002751551RCV005019372

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 SubmittersRCV002871300RCV005019417

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 SubmittersRCV002913825RCV003455600RCV004973702RCV004744469RCV005425008

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 SubmittersRCV002904786RCV005019469

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 SubmittersRCV002932216RCV005019461RCV004744475

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 SubmittersRCV002686846RCV003420409RCV005011103RCV005099468

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 SubmittersRCV002673497RCV005021678

NM_001429.4(EP300):c.772A>G (p.Thr258Ala) SNV
Germline
Chr22:41125906 Conflicting classifications of pathogenicity Inborn genetic diseases
EP300-related disorder
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 2
Colorectal cancer
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Criteria Provided
Conflicting Classifications
CA10252353 rs_201804130

4 SubmittersRCV002738615RCV003918996RCV003526228RCV005399231

NM_001429.4(EP300):c.2893C>T (p.Gln965Ter) SNV
Germline
Chr22:41151908 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA411692884 rs_2059047949

1 SubmittersRCV003127285

NM_004380.3(CREBBP):c.3517C>T (p.Arg1173Ter) SNV
Germline
Chr16:3757901 Pathogenic Condition: not provided
Rubinstein-Taybi syndrome due to CREBBP mutations
Criteria Provided
Multiple Submitters
No Conflicts
CA394568751 rs_2151383341

3 SubmittersRCV003136570RCV004594680

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.2113+1G>C SNV
Unknown
Chr16:3778010 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA394554229 rs_2141232415

1 SubmittersRCV003314281

NM_004380.3(CREBBP):c.1094A>C (p.His365Pro) SNV
Unknown
Chr16:3793508 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA394563185 rs_2548464208

1 SubmittersRCV003315205

NM_004380.3(CREBBP):c.1824-1G>C SNV
Germline
Chr16:3778818 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA394556107 rs_1596910004

1 SubmittersRCV003388801

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 SubmittersRCV003404954RCV003778351RCV005012943

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 SubmittersRCV003417617RCV003778394RCV005012952

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 SubmittersRCV003595303RCV005014748

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 SubmittersRCV003595588RCV004741638RCV005013030

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 SubmittersRCV003593410RCV005014783

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 SubmittersRCV003593520RCV004741641RCV005014790RCV004980883

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 SubmittersRCV003760060RCV005235725RCV005256467

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 SubmittersRCV003760214RCV004741686RCV005014901

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 SubmittersRCV003760247RCV004741690RCV005014906RCV005439162

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 SubmittersRCV003904398RCV005101680RCV004767510RCV005015098

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 SubmittersRCV003899317RCV005064717RCV005015088

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 SubmittersRCV003911583RCV005603860

NM_004380.3(CREBBP):c.4471C>A (p.Gln1491Lys) SNV
Germline
Chr16:3736739 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
CA276980080 rs_201156486

1 SubmittersRCV003990437

NM_004380.3(CREBBP):c.901C>T (p.Gln301Ter) SNV
Germline
Chr16:3810677 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter
rs_2548493542

1 SubmittersRCV004595831

NM_004380.3(CREBBP):c.2689C>T (p.Gln897Ter) SNV
Germline
Chr16:3770761 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter

1 SubmittersRCV004596023

NM_004380.3(CREBBP):c.4508A>T (p.Tyr1503Phe) SNV
Germline/somatic
Chr16:3736702 Likely pathogenic Neoplasm
Rubinstein-Taybi syndrome due to CREBBP mutations
Criteria Provided
Single Submitter

2 SubmittersRCV004666591RCV004720548

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 SubmittersRCV004742736RCV005017236RCV005103686

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 SubmittersRCV004743151RCV005433531RCV005017243RCV005103753

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 SubmittersRCV004764657RCV005059912

NM_004380.3(CREBBP):c.1301A>T (p.Lys434Ile) SNV
Germline
Chr16:3792010 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter

1 SubmittersRCV004795264

NM_004380.3(CREBBP):c.3836+5G>A SNV
Germline
Chr16:3749622 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Criteria Provided
Single Submitter

1 SubmittersRCV004795459

NM_004380.3(CREBBP):c.3649C>T (p.Gln1217Ter) SNV
Germline
Chr16:3757337 Pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter

1 SubmittersRCV004795718

NM_004380.3(CREBBP):c.5997C>T (p.Ser1999=) SNV
Germline
Chr16:3729050 Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to CREBBP mutations
Menke-Hennekam syndrome 1
Rubinstein-Taybi syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005015385RCV005112636

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 SubmittersRCV005015386RCV005112637

NM_004380.3(CREBBP):c.5197T>G (p.Tyr1733Asp) SNV
Germline
Chr16:3729850 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter

1 SubmittersRCV005236983

NM_004380.3(CREBBP):c.2284-2A>G SNV
Germline
Chr16:3773932 Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations Criteria Provided
Single Submitter

1 SubmittersRCV005254254