Total 91 pathogenic variants reported for Holt-Oram syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_181486.4(TBX5):c.205G>T (p.Glu69Ter) SNV
Germline		 Chr12:114401863 Pathogenic Holt-Oram syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254295 rs_104894377

3 SubmittersRCV000008456RCV000760324
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) SNV
Germline		 Chr12:114385521 Pathogenic/Likely pathogenic Holt-Oram syndrome
Condition: not provided
Aortic valve disease 2
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254298 rs_104894378

8 SubmittersRCV000008457RCV000196777RCV000474989RCV002362569
NM_181486.4(TBX5):c.238G>A (p.Gly80Arg) SNV
Germline		 Chr12:114401830 Pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA254300 rs_104894381

1 SubmittersRCV000008458
NM_181486.4(TBX5):c.709C>T (p.Arg237Trp) SNV
Germline		 Chr12:114385522 Pathogenic Holt-Oram syndrome
Heart, malformation of
Aortic valve disease 2
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA163404 rs_104894382

5 SubmittersRCV000008459RCV000128627RCV000473181RCV002362570
NM_181486.4(TBX5):c.145C>A (p.Gln49Lys) SNV
Germline		 Chr12:114403754 Pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA254302 rs_104894383

1 SubmittersRCV000008461
NM_181486.4(TBX5):c.161T>C (p.Ile54Thr) SNV
Germline		 Chr12:114401907 Pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA254304 rs_104894384

1 SubmittersRCV000008462
NM_181486.4(TBX5):c.408C>A (p.Tyr136Ter) SNV
Germline		 Chr12:114398675 Pathogenic/Likely pathogenic Holt-Oram syndrome
TBX5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA254306 rs_104894379

3 SubmittersRCV000008463RCV003398470
NM_181486.4(TBX5):c.1126C>T (p.Gln376Ter) SNV
Germline		 Chr12:114355963 Likely pathogenic Condition: not provided
Holt-Oram syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA321755 rs_863223778

2 SubmittersRCV000197304RCV004555857
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter) SNV
Germline		 Chr12:114366312 Pathogenic Condition: not provided
Aortic valve disease 2
Holt-Oram syndrome
TBX5-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA321019 rs_863223788

9 SubmittersRCV000196593RCV000459213RCV000782289RCV003390935
NM_181486.4(TBX5):c.444G>A (p.Trp148Ter) SNV
Germline		 Chr12:114398639 Pathogenic Atrial septal defect 1
Holt-Oram syndrome		 No Assertion Criteria Provided
 CA386862088 rs_1555226315

2 SubmittersRCV000508630RCV000782309
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser) SNV
Germline		 Chr12:114403844 Conflicting classifications of pathogenicity Holt-Oram syndrome
Cardiovascular phenotype
Condition: not provided
Aortic valve disease 2
TBX5-related disorder		 Criteria Provided
Conflicting Classifications
 CA6809736 rs_200461617

6 SubmittersRCV000292317RCV000244681RCV000596892RCV001088685RCV003909885
NM_181486.4(TBX5):c.755G>C (p.Ser252Thr) SNV
Germline		 Chr12:114385476 Likely pathogenic Condition: not provided
Holt-Oram syndrome		 Criteria Provided
Single Submitter
 CA10588541 rs_863223776

2 SubmittersRCV000255260RCV000782337
NM_181486.4(TBX5):c.587C>A (p.Ser196Ter) SNV
Germline		 Chr12:114394817 Pathogenic Condition: not provided
Holt-Oram syndrome
Aortic valve disease 2
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603231 rs_886041247

6 SubmittersRCV000277503RCV000782331RCV000654912RCV004021059
NM_181486.4(TBX5):c.242+4A>G SNV
Germline		 Chr12:114401822 Conflicting classifications of pathogenicity Condition: not provided
Holt-Oram syndrome		 Criteria Provided
Conflicting Classifications
 CA10606296 rs_886044059

3 SubmittersRCV000380029RCV002480038
NM_181486.4(TBX5):c.68C>A (p.Pro23His) SNV
Germline		 Chr12:114403831 Conflicting classifications of pathogenicity Holt-Oram syndrome
Cardiovascular phenotype
Aortic valve disease 2		 Criteria Provided
Conflicting Classifications
 CA6809732 rs_141609745

3 SubmittersRCV000332226RCV000621936RCV001035070
NM_181486.4(TBX5):c.846C>T (p.Ser282=) SNV
Germline		 Chr12:114366301 Conflicting classifications of pathogenicity Holt-Oram syndrome
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA10641040 rs_886048997

2 SubmittersRCV000338670RCV005286058
NM_181486.4(TBX5):c.668C>T (p.Thr223Met) SNV
Germline		 Chr12:114385563 Pathogenic Condition: not provided
Aortic valve disease 2
Holt-Oram syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA386859862 rs_1555225344

4 SubmittersRCV000519158RCV000654913RCV000782334
NM_181486.4(TBX5):c.1115C>T (p.Ser372Leu) SNV
Germline		 Chr12:114355974 Conflicting classifications of pathogenicity Aortic valve disease 2
Cardiovascular phenotype
Holt-Oram syndrome
Condition: not provided
TBX5-related disorder		 Criteria Provided
Conflicting Classifications
 CA6809407 rs_143068551

5 SubmittersRCV000532471RCV000621377RCV001114222RCV001843530RCV004754475
NM_181486.4(TBX5):c.868C>T (p.Gln290Ter) SNV
Germline		 Chr12:114366279 Pathogenic Aortic valve disease 2
Holt-Oram syndrome		 Criteria Provided
Single Submitter
 CA386926460 rs_1565927747

2 SubmittersRCV000690734RCV000782303
NM_181486.4(TBX5):c.1269C>G (p.Tyr423Ter) SNV
Unknown		 Chr12:114355820 Pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA386925420 rs_756049331

1 SubmittersRCV000782293
NM_181486.4(TBX5):c.1203G>A (p.Trp401Ter) SNV
Germline		 Chr12:114355886 Likely pathogenic Holt-Oram syndrome Criteria Provided
Single Submitter
 CA386925565 rs_377649723

2 SubmittersRCV000782314
NM_181486.4(TBX5):c.1084C>T (p.Gln362Ter) SNV
Unknown		 Chr12:114356005 Pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA386925820 rs_765204502

1 SubmittersRCV000782302
NM_181486.4(TBX5):c.1045G>T (p.Glu349Ter) SNV
Unknown		 Chr12:114356044 Pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA386925909 rs_1565923887

1 SubmittersRCV000782300
NM_181486.4(TBX5):c.943C>T (p.Gln315Ter) SNV
Unknown		 Chr12:114366204 Pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA386926303 rs_1565927645

1 SubmittersRCV000782347
NM_181486.4(TBX5):c.933C>G (p.Tyr311Ter) SNV
Unknown		 Chr12:114366214 Pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA386926323 rs_1565927664

1 SubmittersRCV000782341
NM_181486.4(TBX5):c.879T>A (p.Cys293Ter) SNV
Germline		 Chr12:114366268 Pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA386926432 rs_1565927740

1 SubmittersRCV000782296
NM_181486.4(TBX5):c.845C>T (p.Ser282Phe) SNV
Unknown		 Chr12:114366302 Pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA386926505 rs_1565927794

1 SubmittersRCV000782316
NM_181486.4(TBX5):c.755+2T>C SNV
Unknown		 Chr12:114385474 Likely pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA386859481 rs_1565935314

1 SubmittersRCV000782298
NM_181486.4(TBX5):c.703G>T (p.Gly235Ter) SNV
Unknown		 Chr12:114385528 Pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA386859702 rs_1565935397

1 SubmittersRCV000782327
NM_181486.4(TBX5):c.677A>G (p.Lys226Arg) SNV
Germline		 Chr12:114385554 Likely pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA386859822 rs_1565935426

1 SubmittersRCV000782325
NM_181486.4(TBX5):c.674T>G (p.Leu225Ter) SNV
Unknown		 Chr12:114385557 Pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA386859834 rs_1565935432

1 SubmittersRCV000782346
NM_181486.4(TBX5):c.664-2A>G SNV
Unknown		 Chr12:114385569 Likely pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA386859881 rs_1565935458

1 SubmittersRCV000782324
NM_181486.4(TBX5):c.537C>A (p.Tyr179Ter) SNV
Germline		 Chr12:114394867 Pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA386861564 rs_1565939337

1 SubmittersRCV000782304
NM_181486.4(TBX5):c.510+5G>C SNV
Unknown		 Chr12:114398568 Likely pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA913191199 rs_1555226301

1 SubmittersRCV000782336
NM_181486.4(TBX5):c.510+1G>T SNV
Unknown		 Chr12:114398572 Likely pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA386861933 rs_1565940841

1 SubmittersRCV000782291
NM_181486.4(TBX5):c.342C>A (p.Tyr114Ter) SNV
Unknown		 Chr12:114399533 Pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA386862535 rs_1565941422

1 SubmittersRCV000782301
NM_181486.4(TBX5):c.295A>T (p.Lys99Ter) SNV
Germline		 Chr12:114399580 Pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA386862732 rs_1565941529

1 SubmittersRCV000782328
NM_181486.4(TBX5):c.261C>A (p.Tyr87Ter) SNV
Germline		 Chr12:114399614 Pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA386862867 rs_767197919

2 SubmittersRCV000782348
NM_181486.4(TBX5):c.253C>T (p.Pro85Ser) SNV
Germline		 Chr12:114399622 Likely pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA386862904 rs_1565941579

1 SubmittersRCV000782306
NM_181486.4(TBX5):c.242+5G>A SNV
Germline		 Chr12:114401821 Likely pathogenic Holt-Oram syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA913191206 rs_1555226575

2 SubmittersRCV000782292RCV004789181
NM_181486.4(TBX5):c.148-2A>G SNV
Germline		 Chr12:114401922 Pathogenic Holt-Oram syndrome
Condition: not provided		 Criteria Provided
Single Submitter
 CA386863356 rs_1565942511

2 SubmittersRCV000782338RCV004702415
NM_181486.4(TBX5):c.119C>A (p.Ser40Ter) SNV
Germline		 Chr12:114403780 Pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA386863471 rs_903933027

1 SubmittersRCV000782330
NM_181486.4(TBX5):c.1116G>A (p.Ser372=) SNV
Germline		 Chr12:114355973 Conflicting classifications of pathogenicity Holt-Oram syndrome
Cardiovascular phenotype
Aortic valve disease 2		 Criteria Provided
Conflicting Classifications
 CA6809406 rs_763827720

3 SubmittersRCV001114221RCV002436708RCV002556231
NM_181486.4(TBX5):c.769G>A (p.Val257Met) SNV
Germline		 Chr12:114366378 Conflicting classifications of pathogenicity Holt-Oram syndrome
Aortic valve disease 2
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA6809502 rs_200382742

3 SubmittersRCV001110182RCV002067800RCV002402501
NM_181486.4(TBX5):c.456C>T (p.Leu152=) SNV
Germline		 Chr12:114398627 Conflicting classifications of pathogenicity Holt-Oram syndrome
Aortic valve disease 2
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA6809608 rs_775748269

3 SubmittersRCV001110186RCV002555073RCV004032151
NM_181486.4(TBX5):c.664-11C>T SNV
Germline		 Chr12:114385578 Conflicting classifications of pathogenicity Holt-Oram syndrome
Aortic valve disease 2		 Criteria Provided
Conflicting Classifications
 CA244122059 rs_771400478

2 SubmittersRCV001110184RCV005093510
NM_181486.4(TBX5):c.192G>A (p.Trp64Ter) SNV
Germline		 Chr12:114401876 Pathogenic/Likely pathogenic Holt-Oram syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA386863160 rs_1555226581

2 SubmittersRCV001193147RCV001268738
NM_181486.4(TBX5):c.564G>A (p.Ala188=) SNV
Germline		 Chr12:114394840 Conflicting classifications of pathogenicity Aortic valve disease 2
Cardiovascular phenotype
Holt-Oram syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6809577 rs_745378130

4 SubmittersRCV001245949RCV002348838RCV002504358RCV003393914
NM_181486.4(TBX5):c.756-2A>G SNV
Germline		 Chr12:114366393 Pathogenic/Likely pathogenic Aortic valve disease 2
Holt-Oram syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA386926703 rs_1869545659

2 SubmittersRCV001229255RCV001270727
NM_181486.4(TBX5):c.337A>T (p.Arg113Ter) SNV
Germline		 Chr12:114399538 Pathogenic Holt-Oram syndrome Criteria Provided
Single Submitter
 CA386862555 rs_1871662633

1 SubmittersRCV001332266
NM_181486.4(TBX5):c.704G>A (p.Gly235Glu) SNV
Germline		 Chr12:114385527 Likely pathogenic Holt-Oram syndrome Criteria Provided
Single Submitter
 CA386859693 rs_1870765797

1 SubmittersRCV001334303
NM_181486.4(TBX5):c.362+1G>A SNV
Germline		 Chr12:114399512 Pathogenic Holt-Oram syndrome Criteria Provided
Single Submitter
 CA386862442 rs_1871659583

1 SubmittersRCV001334302
NM_181486.4(TBX5):c.262A>T (p.Lys88Ter) SNV
Germline		 Chr12:114399613 Pathogenic Holt-Oram syndrome No Assertion Criteria Provided
 CA386862861 rs_2136418232

1 SubmittersRCV001530478
NM_181486.4(TBX5):c.242+1G>A SNV
Germline		 Chr12:114401825 Pathogenic/Likely pathogenic Condition: not provided
Holt-Oram syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA386862954 rs_2136421421

2 SubmittersRCV001555481RCV005050392
NM_181486.4(TBX5):c.895G>A (p.Gly299Ser) SNV
Germline		 Chr12:114366252 Conflicting classifications of pathogenicity Aortic valve disease 2
Holt-Oram syndrome
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA6809476 rs_201637366

3 SubmittersRCV001947863RCV003136304RCV002370519
NM_181486.4(TBX5):c.394C>A (p.Pro132Thr) SNV
Germline		 Chr12:114398689 Likely pathogenic Holt-Oram syndrome Criteria Provided
Single Submitter
 CA386862188 rs_2540471641

1 SubmittersRCV002288335
NM_181486.4(TBX5):c.261C>G (p.Tyr87Ter) SNV
Unknown		 Chr12:114399614 Likely pathogenic Holt-Oram syndrome Criteria Provided
Single Submitter
 CA386862869 rs_767197919

1 SubmittersRCV003153142
NM_181486.4(TBX5):c.694T>C (p.Phe232Leu) SNV
Germline		 Chr12:114385537 Pathogenic Holt-Oram syndrome Criteria Provided
Single Submitter
 CA386859744 rs_1565935405

1 SubmittersRCV003318328
NM_181486.4(TBX5):c.148-3C>A SNV
Germline		 Chr12:114401923 Conflicting classifications of pathogenicity Condition: not provided
Holt-Oram syndrome		 Criteria Provided
Conflicting Classifications
 CA2580614570 rs_2540475446

2 SubmittersRCV003319100RCV003984872
NM_181486.4(TBX5):c.664-342G>T SNV
Germline		 Chr12:114385909 Likely pathogenic Holt-Oram syndrome Criteria Provided
Single Submitter
 CA2740097576 rs_2540457891

1 SubmittersRCV003984873
NM_181486.4(TBX5):c.353A>G (p.Asp118Gly) SNV
Germline		 Chr12:114399522 Pathogenic Holt-Oram syndrome Criteria Provided
Single Submitter
 CA386862485 rs_2540472661

1 SubmittersRCV003984875
NM_181486.4(TBX5):c.362G>T (p.Trp121Leu) SNV
Germline		 Chr12:114399513 Likely pathogenic Holt-Oram syndrome Criteria Provided
Single Submitter
 CA386862446 rs_2540472643

1 SubmittersRCV003984876
NM_181486.4(TBX5):c.243-1G>T SNV
Germline		 Chr12:114399633 Pathogenic Holt-Oram syndrome Criteria Provided
Single Submitter
 rs_1871673582

1 SubmittersRCV004595003
NM_181486.4(TBX5):c.242+1G>T SNV
Germline		 Chr12:114401825 Pathogenic Holt-Oram syndrome Criteria Provided
Single Submitter

1 SubmittersRCV004797187