A total 694 pathogenic variants reported in gene CREB binding protein (CREBBP)  
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.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 SubmittersRCV000081031RCV000550437RCV000426201RCV002311603

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 SubmittersRCV000081035RCV005089548

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.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 SubmittersRCV000081038RCV002514427RCV003964929

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 SubmittersRCV000081041RCV001085008RCV001815180RCV002311605RCV003974971

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 SubmittersRCV000081043RCV002433589RCV002515776RCV003935049

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 SubmittersRCV000081046RCV002055190RCV003925063

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 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.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 SubmittersRCV000081056RCV003894939RCV002514428RCV004782050

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 SubmittersRCV000081058RCV002514429RCV003945015

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.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 SubmittersRCV000120596RCV001567118RCV002515831

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 SubmittersRCV000120605RCV002316343RCV003398725RCV005089596

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.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 SubmittersRCV000145776RCV000724357RCV002354333RCV002055884RCV003905261

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 SubmittersRCV000145770RCV000723897RCV002316927RCV002055883RCV003965101

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.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 SubmittersRCV000145751RCV000724245RCV002055881RCV003935242

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.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 SubmittersRCV000153117RCV001078500RCV002433668RCV003937420

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 SubmittersRCV000153118RCV002514951RCV003917495

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 SubmittersRCV000153121RCV003758699

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 SubmittersRCV000171243RCV003982920

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 SubmittersRCV000175058RCV003407645RCV002312710RCV002516659

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 SubmittersRCV000175775RCV002516688RCV003917630

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 SubmittersRCV000176481RCV000951517RCV001640269RCV002326963RCV003927626

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 SubmittersRCV000176937RCV002054084

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 SubmittersRCV000177556RCV003758712

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_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 SubmittersRCV000178892RCV002372098RCV002517745RCV003947522

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 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.1331-12T>C SNV
Germline
Chr16:3782938 Conflicting classifications of pathogenicity not specified
Rubinstein-Taybi syndrome
Criteria Provided
Conflicting Classifications
CA206935 rs_779542354

2 SubmittersRCV000193439RCV002517925

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 SubmittersRCV000238672RCV005230182RCV002518519RCV002290966

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 SubmittersRCV000254930RCV002282094RCV000757967RCV003156089

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.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 SubmittersRCV000362295RCV003758743

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.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 SubmittersRCV000310525RCV003947876

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 SubmittersRCV000401568RCV002519272

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 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.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 SubmittersRCV000443507RCV004022526RCV004975509

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 SubmittersRCV000421287RCV002510889

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 SubmittersRCV000431043RCV001851047RCV005238988

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 SubmittersRCV000483007RCV005222963

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 SubmittersRCV000480754RCV002341123RCV002525758RCV004742443

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 SubmittersRCV000493961RCV000757966RCV003758800

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.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 SubmittersRCV000497928RCV001265899

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.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 SubmittersRCV000512952RCV002316453RCV003987574

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 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_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 SubmittersRCV000598406RCV005231144

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 SubmittersRCV000591355RCV002368012RCV003915709RCV001486605

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 SubmittersRCV000595375RCV001485598RCV002317338RCV003927923RCV005625698

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 SubmittersRCV000591066RCV002532525RCV003927927

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 SubmittersRCV000593529RCV001860192

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 SubmittersRCV000595365RCV002532590

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 SubmittersRCV000623665RCV001027717RCV003231542

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 SubmittersRCV000622375RCV000782092

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 SubmittersRCV001082892RCV000729898RCV002358773RCV003905696RCV005435077

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 SubmittersRCV000633000RCV002260958

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 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.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 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_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 SubmittersRCV005092085RCV002315462RCV004742593

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 SubmittersRCV002315455RCV003420279RCV003594022

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 SubmittersRCV000722632RCV001027872

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 SubmittersRCV000729324RCV003117524

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 SubmittersRCV000731540RCV003947932RCV003758919

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 SubmittersRCV000731846RCV003594023

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.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 SubmittersRCV000734493RCV003758921RCV003892674

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 SubmittersRCV000782063RCV002535428

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 SubmittersRCV000757969RCV003317356

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.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 SubmittersRCV000762185RCV002533895RCV004742633

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 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.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 SubmittersRCV000909651RCV002354741RCV002540796RCV003912995

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 SubmittersRCV000989513RCV001655658RCV002550613

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.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 SubmittersRCV001055503RCV005601672

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 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.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 SubmittersRCV001218406RCV003142166

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 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.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 SubmittersRCV001252205RCV002462884RCV003759036RCV003458656

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_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 SubmittersRCV001264634RCV004743377

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 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_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.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 SubmittersRCV001420558RCV004743472RCV002554090

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 SubmittersRCV001552492RCV003759059RCV004039302RCV003394138

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 SubmittersRCV001567418RCV001866006

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.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 SubmittersRCV001866053RCV001574440RCV003394150RCV004039429

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 SubmittersRCV001594162RCV005014599

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 SubmittersRCV003980813RCV001618131RCV002539568

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.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 SubmittersRCV001658799RCV002246449RCV002539614RCV003319995RCV004743561

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 SubmittersRCV001658959RCV002539622

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.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 SubmittersRCV001756500RCV003407785RCV002538742

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 SubmittersRCV001761012RCV002540406

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 SubmittersRCV001774461RCV004980665

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 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.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 SubmittersRCV001817937RCV002542706

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 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.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 SubmittersRCV001943718RCV003407954RCV004743654RCV005016849

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 SubmittersRCV001960014RCV004612014RCV004743666

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 SubmittersRCV002211341RCV003408168RCV003594169

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 SubmittersRCV002224951RCV005095771

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.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 SubmittersRCV002276337RCV002466753RCV003403768RCV004673656

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 SubmittersRCV002278919RCV003096293RCV003896106

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 SubmittersRCV002280359RCV003164411

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 SubmittersRCV002443354RCV003099289

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.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 SubmittersRCV003418471RCV005096944RCV004721055RCV002361854

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 SubmittersRCV002369283RCV004744353RCV003759151

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 SubmittersRCV002385065RCV003418477RCV003388114RCV004744356

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 SubmittersRCV002409713RCV003103437RCV004744357

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 SubmittersRCV002373996RCV003759655

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 SubmittersRCV002389978RCV003146558RCV003418497RCV003095258

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 SubmittersRCV003101895RCV002455618

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.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 SubmittersRCV002450139RCV003146564

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.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 SubmittersRCV003064314RCV003320911

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.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 SubmittersRCV003079696RCV003916741RCV004526225

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.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 SubmittersRCV003086577RCV003420335

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.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 SubmittersRCV002511824RCV003594308RCV004744371

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 SubmittersRCV003111831RCV005412513

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.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 SubmittersRCV002696282RCV003146609

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.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 SubmittersRCV002730316RCV003418597

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.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 SubmittersRCV002771153RCV004744450RCV005535424

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 SubmittersRCV002871218RCV004765580

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.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 SubmittersRCV002913825RCV003455600RCV004973702RCV004744469RCV005425008

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 SubmittersRCV002900231RCV002903614RCV003409957RCV003963401

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.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 SubmittersRCV002948524RCV003409982RCV003377810

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 SubmittersRCV002974854RCV003409991

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 SubmittersRCV003030383RCV004978489

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_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 SubmittersRCV002891988RCV004741526RCV005099803

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 SubmittersRCV002753310RCV005099162

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 SubmittersRCV003136570RCV004594680

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 SubmittersRCV003145894RCV005099395

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 SubmittersRCV003143345RCV003396921RCV003368060

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 SubmittersRCV003154160RCV003778918RCV004741560

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 SubmittersRCV003155807RCV004763609

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 SubmittersRCV003226754RCV003779814RCV004725690

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 SubmittersRCV003414080RCV003778196RCV005412549

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 SubmittersRCV003397663RCV005402032

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 SubmittersRCV003419083RCV003759841

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 SubmittersRCV003402741RCV003759840

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 SubmittersRCV003408435RCV003759839

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.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 SubmittersRCV003595470RCV004614463

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.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 SubmittersRCV003760060RCV005235725RCV005256467

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 SubmittersRCV003760133RCV005435241

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 SubmittersRCV003760669RCV004798983

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 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.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 SubmittersRCV003760348RCV005545090

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 SubmittersRCV003874733RCV003981181RCV004783131

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.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 SubmittersRCV004666591RCV004720548

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 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.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 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.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