Total 384 pathogenic variants reported for Glanzmann thrombasthenia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000419.5(ITGA2B):c.1750C>T (p.Arg584Ter) SNV
Germline
Chr17:44380004 Pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
CA115834 rs_137852906

3 SubmittersRCV000003026RCV001580165

NM_000419.5(ITGA2B):c.2602-3C>G SNV
Germline
Chr17:44375719 Likely pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
CA10575472 rs_763330792

3 SubmittersRCV000003027RCV001580164

NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp) SNV
Germline
Chr17:44384567 Likely pathogenic Glanzmann thrombasthenia 1
Glanzmann thrombasthenia
Reviewed By Expert Panel
CA115837 rs_137852907

2 SubmittersRCV000003028RCV001580249

NM_000419.5(ITGA2B):c.1544+1G>A SNV
Germline
Chr17:44380385 Pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
CA10575473 rs_879255509

2 SubmittersRCV000003029RCV001580163

NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His) SNV
Germline
Chr17:44383630 Pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
CA115839 rs_137852908

4 SubmittersRCV000003030RCV001580162

NM_000419.5(ITGA2B):c.1063G>A (p.Glu355Lys) SNV
Germline
Chr17:44383640 Pathogenic Glanzmann thrombasthenia 1
Glanzmann thrombasthenia
Reviewed By Expert Panel
CA115844 rs_137852910

3 SubmittersRCV000003033RCV001580264

NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr) SNV
Germline
Chr17:44379780 Pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
CA115846 rs_76811038

4 SubmittersRCV000003034RCV001580160

NM_000419.5(ITGA2B):c.641T>C (p.Leu214Pro) SNV
Germline
Chr17:44385193 Pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
CA115848 rs_137852911

4 SubmittersRCV000003035RCV001580159

NM_000419.5(ITGA2B):c.1878G>C (p.Gln626His) SNV
Germline
Chr17:44379689 Pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
CA115852 rs_80277041

2 SubmittersRCV000003037RCV001580157

NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln) SNV
Germline
Chr17:47286364 Pathogenic Glanzmann thrombasthenia 2
Glanzmann thrombasthenia
Platelet-type bleeding disorder 16
Condition: not provided
Reviewed By Expert Panel
CA123224 rs_121918444

4 SubmittersRCV000014512RCV001580254RCV002243642RCV003137524

NM_000212.3(ITGB3):c.433G>T (p.Asp145Tyr) SNV
Germline
Chr17:47284514 Pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 2
Reviewed By Expert Panel
CA123226 rs_121918445

2 SubmittersRCV000014513RCV001374370

NM_000212.3(ITGB3):c.718C>T (p.Arg240Trp) SNV
Germline
Chr17:47286363 Likely pathogenic Glanzmann thrombasthenia 1
Glanzmann thrombasthenia
Condition: not provided
Glanzmann thrombasthenia 2
Reviewed By Expert Panel
CA123228 rs_121918446

6 SubmittersRCV002243643RCV001580253RCV002513046RCV000014514

NM_000212.3(ITGB3):c.165+1G>T SNV
Germline
Chr17:47274505 Pathogenic Glanzmann thrombasthenia 2 No Assertion Criteria Provided
rs_2143068731

1 SubmittersRCV000014527

NM_000212.3(ITGB3):c.1199G>A (p.Cys400Tyr) SNV
Germline
Chr17:47291027 Pathogenic Glanzmann thrombasthenia 2
Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel
CA123244 rs_121918449

3 SubmittersRCV000014530RCV001801833RCV003556015

NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter) SNV
Germline
Chr17:47307584 Pathogenic Glanzmann thrombasthenia
Platelet-type bleeding disorder 16
Glanzmann thrombasthenia 2
Glanzmann thrombasthenia 1
Condition: not provided
Reviewed By Expert Panel
CA123246 rs_121918450

6 SubmittersRCV000014532RCV001335177RCV001374371RCV002243644RCV003128571

NM_000212.3(ITGB3):c.1924G>T (p.Glu642Ter) SNV
Germline
Chr17:47300488 Pathogenic Glanzmann thrombasthenia 2
Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel
CA123249 rs_121918451

3 SubmittersRCV000014533RCV001801834RCV001851854

NM_000212.3(ITGB3):c.428T>G (p.Leu143Trp) SNV
Germline
Chr17:47284509 Pathogenic Glanzmann thrombasthenia 2
Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Condition: not provided
Reviewed By Expert Panel
CA123252 rs_121918452

4 SubmittersRCV000014535RCV001580250RCV003448246RCV003736537

NM_000419.5(ITGA2B):c.798G>A (p.Trp266Ter) SNV
Germline/somatic
Chr17:44384949 Likely pathogenic Condition: not provided
Glanzmann thrombasthenia
Reviewed By Expert Panel
CA229004 rs_483352692

2 SubmittersRCV000087169RCV002510782

NM_000419.5(ITGA2B):c.2333A>C (p.Gln778Pro) SNV
Germline
Chr17:44376323 Pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
ITGA2B-related disorder
Reviewed By Expert Panel
CA290947544 rs_74475415

4 SubmittersRCV000490428RCV002254157RCV004547508

NM_000419.5(ITGA2B):c.1439+8C>T SNV
Germline
Chr17:44380592 Conflicting classifications of pathogenicity Glanzmann thrombasthenia Criteria Provided
Conflicting Classifications
CA8603095 rs_371050454

2 SubmittersRCV000381188

NM_000419.5(ITGA2B):c.671-13C>T SNV
Germline
Chr17:44385089 Conflicting classifications of pathogenicity Glanzmann thrombasthenia Criteria Provided
Conflicting Classifications
CA8603374 rs_200108644

2 SubmittersRCV000334465

NM_000212.3(ITGB3):c.749A>G (p.Asp250Gly) SNV
Germline
Chr17:47286394 Likely pathogenic Prolonged bleeding time
Abnormal bleeding
Platelet-type bleeding disorder 16
Glanzmann thrombasthenia
Reviewed By Expert Panel
CA16043530 rs_1057518838

2 SubmittersRCV000415046RCV001197460RCV003221968

NM_000212.3(ITGB3):c.1699C>T (p.Gln567Ter) SNV
Germline
Chr17:47299316 Pathogenic Prolonged bleeding time
Abnormal bleeding
Platelet-type bleeding disorder 16
Glanzmann thrombasthenia
Reviewed By Expert Panel
CA16043531 rs_1057518837

2 SubmittersRCV000414924RCV001197459RCV003221967

NM_000419.5(ITGA2B):c.2944G>A (p.Val982Met) SNV
Germline
Chr17:44374470 Pathogenic Condition: not provided
Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
CA16608466 rs_78657866

3 SubmittersRCV000443560RCV001225295RCV002225613

NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg) SNV
Germline
Chr17:44381038 Pathogenic Condition: not provided
Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
ITGA2B-related disorder
Reviewed By Expert Panel
CA8603182 rs_780786843

5 SubmittersRCV000425256RCV001225257RCV002244886RCV004551447

NM_000419.5(ITGA2B):c.2094+2T>C SNV
Germline
Chr17:44378360 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
CA399799489 rs_1555613692

2 SubmittersRCV000527479

NM_000419.5(ITGA2B):c.1946+1G>A SNV
Germline
Chr17:44378642 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_746091910

2 SubmittersRCV000689591

NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter) SNV
Germline
Chr17:44376312 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1598377051

3 SubmittersRCV000851591

NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala) SNV
Germline
Chr17:44379795 Pathogenic Platelet-type bleeding disorder 16
Glanzmann thrombasthenia
Condition: not provided
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
rs_778608263

5 SubmittersRCV002222626RCV000851720RCV001268765RCV003313788

NM_000419.5(ITGA2B):c.1186G>A (p.Asp396Asn) SNV
Germline
Chr17:44383517 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1214448436

2 SubmittersRCV000852005

NM_000212.3(ITGB3):c.433G>A (p.Asp145Asn) SNV
Germline
Chr17:47284514 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_121918445

2 SubmittersRCV000851787

NM_000212.3(ITGB3):c.761A>G (p.Gln254Arg) SNV
Germline
Chr17:47286406 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1598690979

2 SubmittersRCV000851871

NM_000419.5(ITGA2B):c.3060+2T>C SNV
Germline
Chr17:44374352 Pathogenic Abnormal platelet function
Glanzmann thrombasthenia
Condition: not provided
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
rs_74664206

5 SubmittersRCV000852104RCV001225236RCV001724151RCV003327457

NM_000419.5(ITGA2B):c.1211-1G>C SNV
Germline
Chr17:44381062 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1598380380

2 SubmittersRCV000851671

NM_000419.5(ITGA2B):c.1210+105A>G SNV
Germline
Chr17:44383388 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_992856733

2 SubmittersRCV000851670

NM_000419.5(ITGA2B):c.409-1G>A SNV
Germline
Chr17:44385717 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1393747638

2 SubmittersRCV000851783

NM_000419.5(ITGA2B):c.1357C>T (p.Arg453Ter) SNV
Germline
Chr17:44380915 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_151179377

2 SubmittersRCV000778499

NM_000212.3(ITGB3):c.187C>T (p.Arg63Cys) SNV
Germline
Chr17:47283375 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_199866795

2 SubmittersRCV000778500

NM_000212.3(ITGB3):c.362-1G>A SNV
Germline
Chr17:47284442 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1567764299

2 SubmittersRCV000778501

NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp) SNV
Germline
Chr17:44380926 Likely pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
rs_1598380253

2 SubmittersRCV000003031RCV001580161

NM_000212.3(ITGB3):c.727G>C (p.Asp243His) SNV
Germline
Chr17:47286372 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1598690937

2 SubmittersRCV000985156

NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser) SNV
Germline
Chr17:47284646 Pathogenic Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel
rs_958609406

3 SubmittersRCV001003533RCV003727835

NM_000419.5(ITGA2B):c.998+1G>C SNV
Germline
Chr17:44383893 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1598381778

2 SubmittersRCV001003531

NM_000419.5(ITGA2B):c.414C>A (p.Cys138Ter) SNV
Germline
Chr17:44385711 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048642260

2 SubmittersRCV001059843

NM_000212.3(ITGB3):c.777+1G>A SNV
Germline
Chr17:47286423 Pathogenic Condition: not provided
Glanzmann thrombasthenia
Glanzmann thrombasthenia 2
Reviewed By Expert Panel
rs_745766760

4 SubmittersRCV001055160RCV001580245RCV003152747

NM_000419.5(ITGA2B):c.2862G>A (p.Val954=) SNV
Germline
Chr17:44374740 Conflicting classifications of pathogenicity Glanzmann thrombasthenia Criteria Provided
Conflicting Classifications
rs_201119421

2 SubmittersRCV001128136

NM_000212.3(ITGB3):c.1605C>T (p.His535=) SNV
Germline
Chr17:47292483 Conflicting classifications of pathogenicity Glanzmann thrombasthenia
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_757985563

2 SubmittersRCV001127593RCV003679041

NM_000419.5(ITGA2B):c.3061-4C>T SNV
Germline
Chr17:44372427 Conflicting classifications of pathogenicity Glanzmann thrombasthenia Criteria Provided
Conflicting Classifications
rs_530669664

2 SubmittersRCV001128133

NM_000419.5(ITGA2B):c.2951C>A (p.Thr984Lys) SNV
Germline
Chr17:44374463 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048521744

1 SubmittersRCV001225229

NM_000419.5(ITGA2B):c.2929C>T (p.Arg977Ter) SNV
Germline
Chr17:44374673 Pathogenic Glanzmann thrombasthenia
Platelet-type bleeding disorder 16
Reviewed By Expert Panel
rs_79657230

3 SubmittersRCV001225251RCV002245883

NM_000419.5(ITGA2B):c.2864T>A (p.Leu955Gln) SNV
Germline
Chr17:44374738 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048524687

1 SubmittersRCV001225228

NM_000419.5(ITGA2B):c.2671C>T (p.Gln891Ter) SNV
Germline
Chr17:44375647 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_200846140

2 SubmittersRCV001225291

NM_000419.5(ITGA2B):c.2267+1G>T SNV
Germline
Chr17:44377008 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048550327

1 SubmittersRCV001225274

NM_000419.5(ITGA2B):c.2113T>C (p.Cys705Arg) SNV
Germline
Chr17:44377772 Pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
rs_77961246

2 SubmittersRCV001225296RCV002254204

NM_000419.5(ITGA2B):c.1882C>T (p.Arg628Ter) SNV
Germline
Chr17:44378707 Pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Condition: not provided
Reviewed By Expert Panel
rs_1236922680

3 SubmittersRCV001225269RCV003313995RCV003426003

NM_000419.5(ITGA2B):c.1753-1G>A SNV
Germline
Chr17:44379815 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048578129

1 SubmittersRCV001225272

NM_000419.5(ITGA2B):c.1651C>T (p.Arg551Trp) SNV
Germline
Chr17:44380103 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1261397461

1 SubmittersRCV001225283

NM_000419.5(ITGA2B):c.1618C>T (p.Gln540Ter) SNV
Germline
Chr17:44380136 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1344768030

1 SubmittersRCV001225266

NM_000419.5(ITGA2B):c.1612G>T (p.Glu538Ter) SNV
Germline
Chr17:44380142 Pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
rs_780837520

2 SubmittersRCV001225292RCV002254203

NM_000419.5(ITGA2B):c.1413C>G (p.Tyr471Ter) SNV
Germline
Chr17:44380626 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_78218617

1 SubmittersRCV001225302

NM_000419.5(ITGA2B):c.1214T>C (p.Ile405Thr) SNV
Germline
Chr17:44381058 Pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
rs_75622274

2 SubmittersRCV001225235RCV002280899

NM_000419.5(ITGA2B):c.1028T>C (p.Leu343Pro) SNV
Germline
Chr17:44383675 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1476448476

1 SubmittersRCV001225278

NM_000419.5(ITGA2B):c.889G>C (p.Ala297Pro) SNV
Germline
Chr17:44384313 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_531610168

2 SubmittersRCV001225237

NM_000419.5(ITGA2B):c.886G>A (p.Gly296Arg) SNV
Germline
Chr17:44384316 Likely pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
rs_753264426

2 SubmittersRCV001225276RCV002245885

NM_000419.5(ITGA2B):c.800G>A (p.Gly267Glu) SNV
Germline
Chr17:44384585 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048627164

2 SubmittersRCV001225247

NM_000419.5(ITGA2B):c.682C>T (p.Gln228Ter) SNV
Germline
Chr17:44385065 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048632227

1 SubmittersRCV001225293

NM_000419.5(ITGA2B):c.624+2C>A SNV
Germline
Chr17:44385284 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048635467

1 SubmittersRCV001225245

NM_000419.5(ITGA2B):c.574+5G>C SNV
Germline
Chr17:44385546 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1598383011

1 SubmittersRCV001225230

NM_000419.5(ITGA2B):c.555T>G (p.Ile185Met) SNV
Germline
Chr17:44385570 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048639927

1 SubmittersRCV001225226

NM_000419.5(ITGA2B):c.527C>T (p.Pro176Leu) SNV
Germline
Chr17:44385598 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_148327798

1 SubmittersRCV001225250

NM_000419.5(ITGA2B):c.527C>A (p.Pro176His) SNV
Germline
Chr17:44385598 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_148327798

1 SubmittersRCV001225246

NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala) SNV
Germline
Chr17:44385599 Pathogenic Glanzmann thrombasthenia
Condition: not provided
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
rs_2048640485

4 SubmittersRCV001225231RCV001796397RCV002245882

NM_000419.5(ITGA2B):c.480C>G (p.Ser160Arg) SNV
Germline
Chr17:44385645 Likely pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
rs_1279297832

2 SubmittersRCV001225258RCV002280900

NM_000419.5(ITGA2B):c.257T>C (p.Leu86Pro) SNV
Germline
Chr17:44386063 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1052533574

1 SubmittersRCV001225273

NM_000419.5(ITGA2B):c.131G>T (p.Gly44Val) SNV
Germline
Chr17:44389343 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048678209

1 SubmittersRCV001225268

NM_000212.3(ITGB3):c.31T>C (p.Trp11Arg) SNV
Germline
Chr17:47253892 Pathogenic Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel
rs_1022839092

2 SubmittersRCV001225262RCV001360644

NM_000212.3(ITGB3):c.79+1G>A SNV
Germline
Chr17:47253941 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2064977538

1 SubmittersRCV001225287

NM_000212.3(ITGB3):c.115T>G (p.Cys39Gly) SNV
Germline
Chr17:47274454 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1880497383

1 SubmittersRCV001225279

NM_000212.3(ITGB3):c.448A>G (p.Met150Val) SNV
Germline
Chr17:47284529 Likely pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Glanzmann thrombasthenia 2
Condition: not provided
Bleeding disorder, platelet-type, 24
Reviewed By Expert Panel
rs_767548512

3 SubmittersRCV001225290RCV002254202RCV002281175RCV003558758RCV002280901

NM_000212.3(ITGB3):c.505C>T (p.Arg169Ter) SNV
Germline
Chr17:47284586 Pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 2
Reviewed By Expert Panel
rs_1038392991

2 SubmittersRCV001225299RCV004561999

NM_000212.3(ITGB3):c.629G>C (p.Cys210Ser) SNV
Germline
Chr17:47286274 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2065102210

1 SubmittersRCV001225284

NM_000212.3(ITGB3):c.877C>T (p.Gln293Ter) SNV
Germline
Chr17:47287169 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1193381168

1 SubmittersRCV001225285

NM_000212.3(ITGB3):c.1458C>G (p.Cys486Trp) SNV
Germline
Chr17:47292336 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1255017270

1 SubmittersRCV001225244

NM_000212.3(ITGB3):c.1594T>C (p.Cys532Arg) SNV
Germline
Chr17:47292472 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1397448267

1 SubmittersRCV001225242

NM_000212.3(ITGB3):c.1595G>A (p.Cys532Tyr) SNV
Germline
Chr17:47292473 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2065130922

1 SubmittersRCV001225239

NM_000212.3(ITGB3):c.1702T>C (p.Cys568Arg) SNV
Germline
Chr17:47299319 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2065157102

1 SubmittersRCV001225240

NM_000212.3(ITGB3):c.1913+5G>T SNV
Germline
Chr17:47299535 Likely pathogenic Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel
rs_764779088

2 SubmittersRCV001225277RCV003558756

NM_000212.3(ITGB3):c.2014+1G>A SNV
Germline
Chr17:47300579 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2065163860

1 SubmittersRCV001225241

NM_000419.5(ITGA2B):c.671-1G>A SNV
Germline
Chr17:44385077 Likely pathogenic Glanzmann thrombasthenia Criteria Provided
Single Submitter
rs_2048632400

1 SubmittersRCV001226571

NM_000419.5(ITGA2B):c.2444A>G (p.Tyr815Cys) SNV
Germline
Chr17:44376089 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048541187

2 SubmittersRCV001254666

NM_000419.5(ITGA2B):c.1752+2T>C SNV
Germline
Chr17:44380000 Pathogenic Condition: not provided
Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
rs_769156315

5 SubmittersRCV001268766RCV001254665RCV003339566

NM_000419.5(ITGA2B):c.1361G>A (p.Gly454Asp) SNV
Germline
Chr17:44380911 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048591163

2 SubmittersRCV001254664

NM_000419.5(ITGA2B):c.476G>T (p.Gly159Val) SNV
Germline
Chr17:44385649 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048641442

2 SubmittersRCV001254663

NM_000212.3(ITGB3):c.1641C>A (p.Cys547Ter) SNV
Germline
Chr17:47292519 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_185135224

2 SubmittersRCV001254668

NM_000212.3(ITGB3):c.1697G>A (p.Gly566Asp) SNV
Germline
Chr17:47299314 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2065157059

2 SubmittersRCV001254669

NM_000419.5(ITGA2B):c.2800G>T (p.Val934Phe) SNV
Germline
Chr17:44375039 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_77458039

1 SubmittersRCV001290459

NM_000419.5(ITGA2B):c.2468G>A (p.Gly823Glu) SNV
Germline
Chr17:44375966 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1166506747

1 SubmittersRCV001290475

NM_000419.5(ITGA2B):c.2236G>T (p.Glu746Ter) SNV
Germline
Chr17:44377040 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048550784

1 SubmittersRCV001290505

NM_000419.5(ITGA2B):c.1879-2A>G SNV
Germline
Chr17:44378712 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_77229108

1 SubmittersRCV001290488

NM_000419.5(ITGA2B):c.1672C>T (p.Gln558Ter) SNV
Germline
Chr17:44380082 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_74602141

1 SubmittersRCV001290490

NM_000419.5(ITGA2B):c.1652G>A (p.Arg551Gln) SNV
Germline
Chr17:44380102 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_769405222

1 SubmittersRCV001290504

NM_000419.5(ITGA2B):c.1201G>T (p.Gly401Cys) SNV
Germline
Chr17:44383502 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048613694

1 SubmittersRCV001290474

NM_000419.5(ITGA2B):c.1021G>A (p.Ala341Thr) SNV
Germline
Chr17:44383682 Likely pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
rs_2048616842

2 SubmittersRCV001290494RCV003313793

NM_000419.5(ITGA2B):c.962G>T (p.Gly321Val) SNV
Germline
Chr17:44383930 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048619898

1 SubmittersRCV001290463

NM_000419.5(ITGA2B):c.961G>T (p.Gly321Trp) SNV
Germline
Chr17:44383931 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048619921

1 SubmittersRCV001290464

NM_000419.5(ITGA2B):c.799+2T>C SNV
Germline
Chr17:44384946 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1194700242

1 SubmittersRCV001290485

NM_000419.5(ITGA2B):c.601G>A (p.Gly201Ser) SNV
Germline
Chr17:44385309 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048635741

1 SubmittersRCV001290450

NM_000419.5(ITGA2B):c.571T>G (p.Phe191Val) SNV
Germline
Chr17:44385554 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048639566

1 SubmittersRCV001290465

NM_000419.5(ITGA2B):c.531T>A (p.Cys177Ter) SNV
Germline
Chr17:44385594 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_79713558

1 SubmittersRCV001290489

NM_000419.5(ITGA2B):c.266G>A (p.Trp89Ter) SNV
Germline
Chr17:44386054 Pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
rs_2048646082

2 SubmittersRCV001290479RCV002254212

NM_000212.3(ITGB3):c.100C>T (p.Arg34Ter) SNV
Germline
Chr17:47274439 Pathogenic Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel
rs_75427428

2 SubmittersRCV001290487RCV003558799

NM_000212.3(ITGB3):c.166-2A>G SNV
Germline
Chr17:47283352 Pathogenic Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel
rs_75354240

2 SubmittersRCV001290480RCV003558798

NM_000212.3(ITGB3):c.262C>T (p.Arg88Ter) SNV
Germline
Chr17:47283450 Pathogenic Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel
rs_1399113954

2 SubmittersRCV001290503RCV003558800

NM_000212.3(ITGB3):c.353T>A (p.Leu118His) SNV
Germline
Chr17:47283541 Likely pathogenic Glanzmann thrombasthenia
ITGB3-related disorder
Reviewed By Expert Panel
rs_368325996

2 SubmittersRCV001290460RCV003393952

NM_000212.3(ITGB3):c.431T>G (p.Met144Arg) SNV
Germline
Chr17:47284512 Pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 2
Reviewed By Expert Panel
rs_77963874

2 SubmittersRCV001290482RCV002222693

NM_000212.3(ITGB3):c.647A>G (p.Tyr216Cys) SNV
Germline
Chr17:47286292 Likely pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 2
Reviewed By Expert Panel
rs_2065102310

2 SubmittersRCV001290496RCV002222694

NM_000212.3(ITGB3):c.665T>C (p.Leu222Pro) SNV
Germline
Chr17:47286310 Pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Condition: not provided
Reviewed By Expert Panel
rs_79208797

3 SubmittersRCV001290457RCV002254211RCV003558796

NM_000212.3(ITGB3):c.724C>T (p.Arg242Ter) SNV
Germline
Chr17:47286369 Pathogenic Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel
rs_758633284

2 SubmittersRCV001290458RCV003558797

NM_000212.3(ITGB3):c.760C>A (p.Gln254Lys) SNV
Germline
Chr17:47286405 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2065102917

1 SubmittersRCV001290469

NM_000212.3(ITGB3):c.940-2A>G SNV
Germline
Chr17:47289679 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2065117719

1 SubmittersRCV001290484

NM_000212.3(ITGB3):c.940G>T (p.Asp314Tyr) SNV
Germline
Chr17:47289681 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2065117726

1 SubmittersRCV001290470

NM_000212.3(ITGB3):c.941A>C (p.Asp314Ala) SNV
Germline
Chr17:47289682 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2065117736

1 SubmittersRCV001290453

NM_000212.3(ITGB3):c.1260G>A (p.Thr420=) SNV
Germline
Chr17:47291088 Likely pathogenic Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel
rs_74458693

2 SubmittersRCV001290478RCV003546696

NM_000212.3(ITGB3):c.1646G>C (p.Cys549Ser) SNV
Germline
Chr17:47292524 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1395325049

1 SubmittersRCV001290468

NM_000212.3(ITGB3):c.1801T>G (p.Cys601Gly) SNV
Germline
Chr17:47299418 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_747534508

1 SubmittersRCV001290476

NM_000212.3(ITGB3):c.1871G>A (p.Cys624Tyr) SNV
Germline
Chr17:47299488 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1181336139

1 SubmittersRCV001290456

NM_000212.3(ITGB3):c.1913+1G>A SNV
Germline
Chr17:47299531 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2065158302

1 SubmittersRCV001290473

NM_000419.5(ITGA2B):c.985G>T (p.Val329Phe) SNV
Germline
Chr17:44383907 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048619428

2 SubmittersRCV001332427

NM_000419.5(ITGA2B):c.2602-2A>G SNV
Germline
Chr17:44375718 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143436505

2 SubmittersRCV001580239

NM_000419.5(ITGA2B):c.2348+5G>C SNV
Germline
Chr17:44376303 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_776442328

1 SubmittersRCV001580222

NM_000419.5(ITGA2B):c.2063C>T (p.Ala688Val) SNV
Germline
Chr17:44378393 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1245816431

1 SubmittersRCV001580230

NM_000419.5(ITGA2B):c.2029G>A (p.Glu677Lys) SNV
Germline
Chr17:44378427 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143450843

1 SubmittersRCV001580215

NM_000419.5(ITGA2B):c.1233C>A (p.Tyr411Ter) SNV
Germline
Chr17:44381039 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_779910477

1 SubmittersRCV001580257

NM_000419.5(ITGA2B):c.1210+5G>A SNV
Germline
Chr17:44383488 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143475577

1 SubmittersRCV001580234

NM_000419.5(ITGA2B):c.1051C>T (p.Arg351Ter) SNV
Germline
Chr17:44383652 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1032879686

1 SubmittersRCV001580228

NM_000419.5(ITGA2B):c.857T>A (p.Val286Asp) SNV
Germline
Chr17:44384345 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143480810

1 SubmittersRCV001580263

NM_000419.5(ITGA2B):c.842C>T (p.Thr281Ile) SNV
Germline
Chr17:44384543 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143481657

1 SubmittersRCV001580226

NM_000419.5(ITGA2B):c.800-2A>G SNV
Germline
Chr17:44384587 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143481938

1 SubmittersRCV001580237

NM_000419.5(ITGA2B):c.647C>T (p.Ala216Val) SNV
Germline
Chr17:44385187 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143485154

1 SubmittersRCV001580219

NM_000419.5(ITGA2B):c.641T>G (p.Leu214Arg) SNV
Germline
Chr17:44385193 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_137852911

1 SubmittersRCV001580255

NM_000419.5(ITGA2B):c.558C>G (p.Tyr186Ter) SNV
Germline
Chr17:44385567 Likely pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
rs_1416238665

2 SubmittersRCV001580241RCV003989698

NM_000419.5(ITGA2B):c.416C>T (p.Ala139Val) SNV
Germline
Chr17:44385709 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143489510

1 SubmittersRCV001580238

NM_000212.3(ITGB3):c.392G>C (p.Arg131Pro) SNV
Germline
Chr17:47284473 Likely pathogenic Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel
rs_201806801

2 SubmittersRCV001580244RCV003546709

NM_000212.3(ITGB3):c.614+1G>T SNV
Germline
Chr17:47284696 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2065096678

1 SubmittersRCV001580218

NM_000212.3(ITGB3):c.728A>T (p.Asp243Val) SNV
Germline
Chr17:47286373 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143097053

1 SubmittersRCV001580220

NM_000212.3(ITGB3):c.774T>A (p.Cys258Ter) SNV
Germline
Chr17:47286419 Pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
rs_2143097219

2 SubmittersRCV001580213RCV002254214

NM_000212.3(ITGB3):c.1031A>C (p.Tyr344Ser) SNV
Germline
Chr17:47289772 Likely pathogenic Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel
rs_2065118116

2 SubmittersRCV001580247RCV002573261

NM_000212.3(ITGB3):c.1031A>G (p.Tyr344Cys) SNV
Germline
Chr17:47289772 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2065118116

1 SubmittersRCV001580246

NM_000212.3(ITGB3):c.1094A>G (p.Asn365Ser) SNV
Germline
Chr17:47290243 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143107081

1 SubmittersRCV001580232

NM_000212.3(ITGB3):c.1801T>C (p.Cys601Arg) SNV
Germline
Chr17:47299418 Pathogenic Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel
rs_747534508

2 SubmittersRCV001580240RCV003558843

NM_000212.3(ITGB3):c.2080C>T (p.Gln694Ter) SNV
Germline
Chr17:47302786 Pathogenic Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel
rs_2143138190

2 SubmittersRCV001580261RCV003558844

NM_000212.3(ITGB3):c.2302-1G>A SNV
Germline
Chr17:47310138 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143158065

1 SubmittersRCV001580256

NM_000212.3(ITGB3):c.1495T>C (p.Cys499Arg) SNV
Germline
Chr17:47292373 Likely pathogenic Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel
rs_2143113460

2 SubmittersRCV001803403RCV003728010

NM_000212.3(ITGB3):c.917A>C (p.His306Pro) SNV
Germline
Chr17:47287209 Likely pathogenic Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel
rs_13306476

2 SubmittersRCV001803404RCV003560851

NM_000212.3(ITGB3):c.1288C>T (p.Arg430Ter) SNV
Germline
Chr17:47292166 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1458116788

1 SubmittersRCV001803407

NM_000419.5(ITGA2B):c.620C>T (p.Thr207Ile) SNV
Germline
Chr17:44385290 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143485911

1 SubmittersRCV001803410

NM_000419.5(ITGA2B):c.2953C>T (p.Gln985Ter) SNV
Germline
Chr17:44374461 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143427792

1 SubmittersRCV001803413

NM_000212.3(ITGB3):c.1736G>A (p.Trp579Ter) SNV
Germline
Chr17:47299353 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143129828

1 SubmittersRCV001803417

NM_000419.5(ITGA2B):c.1993C>T (p.Gln665Ter) SNV
Germline
Chr17:44378463 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1472992102

1 SubmittersRCV001803421

NM_000419.5(ITGA2B):c.432G>A (p.Trp144Ter) SNV
Germline
Chr17:44385693 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143489377

1 SubmittersRCV001803423

NM_000212.3(ITGB3):c.892C>T (p.Gln298Ter) SNV
Germline
Chr17:47287184 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2065105940

1 SubmittersRCV001803425

NM_000212.3(ITGB3):c.2147G>T (p.Gly716Val) SNV
Germline
Chr17:47307483 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1205019601

1 SubmittersRCV001803426

NM_000212.3(ITGB3):c.1980C>A (p.Tyr660Ter) SNV
Germline
Chr17:47300544 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_777913442

1 SubmittersRCV001803427

NM_000212.3(ITGB3):c.842A>C (p.His281Pro) SNV
Germline
Chr17:47287134 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143098907

1 SubmittersRCV001803428

NM_000212.3(ITGB3):c.1402G>T (p.Glu468Ter) SNV
Germline
Chr17:47292280 Pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 2
Reviewed By Expert Panel
rs_2143112940

2 SubmittersRCV001803431RCV003339746

NM_000212.3(ITGB3):c.856G>A (p.Gly286Arg) SNV
Germline
Chr17:47287148 Likely pathogenic Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel
rs_1199275720

2 SubmittersRCV001803432RCV003560852

NM_000212.3(ITGB3):c.361+1G>A SNV
Germline
Chr17:47283550 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143090512

1 SubmittersRCV001803433

NM_000419.5(ITGA2B):c.574+1G>A SNV
Germline
Chr17:44385550 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1291613591

1 SubmittersRCV001803435

NM_000419.5(ITGA2B):c.2172G>A (p.Met724Ile) SNV
Germline
Chr17:44377713 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143447323

1 SubmittersRCV001803436

NM_000419.5(ITGA2B):c.812C>G (p.Ala271Gly) SNV
Germline
Chr17:44384573 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143481840

1 SubmittersRCV001803437

NM_000419.5(ITGA2B):c.659A>G (p.Tyr220Cys) SNV
Germline
Chr17:44385175 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1355838837

1 SubmittersRCV001803438

NM_000419.5(ITGA2B):c.625-1G>A SNV
Germline
Chr17:44385210 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143485431

1 SubmittersRCV001803439

NM_000419.5(ITGA2B):c.2421G>A (p.Trp807Ter) SNV
Germline
Chr17:44376112 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143439415

1 SubmittersRCV001803440

NM_000212.3(ITGB3):c.921C>A (p.Tyr307Ter) SNV
Germline
Chr17:47287213 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143099209

1 SubmittersRCV001803442

NM_000212.3(ITGB3):c.444C>G (p.Tyr148Ter) SNV
Germline
Chr17:47284525 Pathogenic Glanzmann thrombasthenia 1
Glanzmann thrombasthenia
Reviewed By Expert Panel
rs_887221055

2 SubmittersRCV002245360RCV004577562

NM_000419.5(ITGA2B):c.2095-19T>A SNV
Germline
Chr17:44377809 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143447856

1 SubmittersRCV002254790

NM_000212.3(ITGB3):c.2014+5G>A SNV
Germline
Chr17:47300583 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143133455

1 SubmittersRCV002254792

NM_000419.5(ITGA2B):c.2437C>A (p.His813Asn) SNV
Germline
Chr17:44376096 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1196551352

1 SubmittersRCV002254793

NM_000212.3(ITGB3):c.989T>A (p.Ile330Asn) SNV
Germline
Chr17:47289730 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143105830

1 SubmittersRCV002254794

NM_000212.3(ITGB3):c.1814G>A (p.Gly605Asp) SNV
Germline
Chr17:47299431 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143130130

1 SubmittersRCV002254796

NM_000419.5(ITGA2B):c.957T>A (p.Tyr319Ter) SNV
Germline
Chr17:44383935 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143478260

1 SubmittersRCV002254798

NM_000419.5(ITGA2B):c.1259T>C (p.Val420Ala) SNV
Germline
Chr17:44381013 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2048592296

1 SubmittersRCV002254801

NM_000419.5(ITGA2B):c.3060G>A (p.Lys1020=) SNV
Germline
Chr17:44374354 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_757268030

1 SubmittersRCV002254806

NM_000419.5(ITGA2B):c.2770C>T (p.Gln924Ter) SNV
Germline
Chr17:44375069 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143432066

1 SubmittersRCV002254810

NM_000212.3(ITGB3):c.1641C>G (p.Cys547Trp) SNV
Germline
Chr17:47292519 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_185135224

1 SubmittersRCV002254811

NM_000419.5(ITGA2B):c.2150T>C (p.Leu717Pro) SNV
Germline
Chr17:44377735 Likely pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel
rs_2143447451

2 SubmittersRCV002254812RCV002280917

NM_000419.5(ITGA2B):c.408G>C (p.Val136=) SNV
Germline
Chr17:44385824 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_1400938437

1 SubmittersRCV002254813

NM_000212.3(ITGB3):c.422A>G (p.Tyr141Cys) SNV
Germline
Chr17:47284503 Likely pathogenic Glanzmann thrombasthenia
Condition: not provided
Glanzmann thrombasthenia 2
Reviewed By Expert Panel
rs_1739770567

3 SubmittersRCV002254817RCV003560900RCV003987989

NM_000419.5(ITGA2B):c.423G>T (p.Trp141Cys) SNV
Germline
Chr17:44385702 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143489430

1 SubmittersRCV002254819

NM_000419.5(ITGA2B):c.2578C>T (p.Gln860Ter) SNV
Germline
Chr17:44375856 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143437407

1 SubmittersRCV002254821

NM_000212.3(ITGB3):c.1388G>C (p.Cys463Ser) SNV
Germline
Chr17:47292266 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_2143112826

1 SubmittersRCV002254822

NM_000419.5(ITGA2B):c.188G>A (p.Arg63Lys) SNV
Germline
Chr17:44389286 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel
rs_767688038

1 SubmittersRCV002254825

NM_000212.3(ITGB3):c.1309G>T (p.Glu437Ter) SNV
Germline
Chr17:47292187 Pathogenic Glanzmann thrombasthenia 1
Glanzmann thrombasthenia
Reviewed By Expert Panel
rs_754250394

2 SubmittersRCV002264879RCV004577564

NM_000419.5(ITGA2B):c.800-1G>A SNV
Germline
Chr17:44384586 Likely pathogenic Glanzmann thrombasthenia 1 Criteria Provided
Single Submitter

1 SubmittersRCV002281023

NM_000419.5(ITGA2B):c.337C>T (p.Gln113Ter) SNV
Germline
Chr17:44385895 Pathogenic Glanzmann thrombasthenia 1
Glanzmann thrombasthenia
Reviewed By Expert Panel

2 SubmittersRCV002281026RCV002511149

NM_000419.5(ITGA2B):c.59T>G (p.Leu20Arg) SNV
Germline
Chr17:44389415 Likely pathogenic Glanzmann thrombasthenia 1
Glanzmann thrombasthenia
Reviewed By Expert Panel

2 SubmittersRCV002281028RCV002511150

NM_000419.5(ITGA2B):c.1229C>A (p.Pro410His) SNV
Germline
Chr17:44381043 Pathogenic Glanzmann thrombasthenia 1 Criteria Provided
Single Submitter

1 SubmittersRCV002281029

NM_000212.3(ITGB3):c.79G>A (p.Gly27Arg) SNV
Germline
Chr17:47253940 Likely pathogenic Glanzmann thrombasthenia 2 Criteria Provided
Single Submitter

1 SubmittersRCV002281034

NM_000419.5(ITGA2B):c.1545-1G>A SNV
Germline
Chr17:44380302 Pathogenic Glanzmann thrombasthenia 1
Glanzmann thrombasthenia
Platelet-type bleeding disorder 16
Reviewed By Expert Panel

3 SubmittersRCV002466786RCV002511169RCV003340494

NM_000212.3(ITGB3):c.863T>C (p.Leu288Pro) SNV
Germline
Chr17:47287155 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV002511510

NM_000419.5(ITGA2B):c.1591C>T (p.Gln531Ter) SNV
Germline
Chr17:44380255 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV002511514

NM_000212.3(ITGB3):c.1525C>T (p.Gln509Ter) SNV
Germline
Chr17:47292403 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV002511518

NM_000419.5(ITGA2B):c.953C>T (p.Ser318Leu) SNV
Germline
Chr17:44383939 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV002511519

NM_000212.3(ITGB3):c.121C>T (p.Gln41Ter) SNV
Germline
Chr17:47274460 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV002511528

NM_000419.5(ITGA2B):c.48G>A (p.Trp16Ter) SNV
Germline
Chr17:44389426 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV002511531

NM_000212.3(ITGB3):c.1595G>T (p.Cys532Phe) SNV
Germline
Chr17:47292473 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV002511533

NM_000419.5(ITGA2B):c.475G>A (p.Gly159Ser) SNV
Germline
Chr17:44385650 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV002511534

NM_000419.5(ITGA2B):c.1563T>A (p.Cys521Ter) SNV
Germline
Chr17:44380283 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV002511535

NM_000419.5(ITGA2B):c.3061-1G>A SNV
Germline
Chr17:44372424 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV002511538

NM_000419.5(ITGA2B):c.1555C>T (p.Gln519Ter) SNV
Germline
Chr17:44380291 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV002511539

NM_000212.3(ITGB3):c.118C>T (p.Gln40Ter) SNV
Germline
Chr17:47274457 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV002511542

NM_000212.3(ITGB3):c.1813G>A (p.Gly605Ser) SNV
Germline
Chr17:47299430 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV002511543

NM_000212.3(ITGB3):c.725G>A (p.Arg242Gln) SNV
Germline
Chr17:47286370 Pathogenic Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel

2 SubmittersRCV002511544RCV003561061

NM_000212.3(ITGB3):c.1639T>G (p.Cys547Gly) SNV
Germline
Chr17:47292517 Likely pathogenic Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel

2 SubmittersRCV002511546RCV003493963

NM_000212.3(ITGB3):c.1303G>T (p.Glu435Ter) SNV
Germline
Chr17:47292181 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV002511548

NM_000419.5(ITGA2B):c.2255T>G (p.Leu752Arg) SNV
Germline
Chr17:44377021 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV002511550

NM_000419.5(ITGA2B):c.1096C>T (p.Arg366Ter) SNV
Germline
Chr17:44383607 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV002511552

NM_000419.5(ITGA2B):c.2702C>A (p.Ser901Ter) SNV
Germline
Chr17:44375616 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV002511559

NM_000419.5(ITGA2B):c.1600+1G>A SNV
Germline
Chr17:44380245 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV002511564

NM_000419.5(ITGA2B):c.97A>G (p.Asn33Asp) SNV
Germline
Chr17:44389377 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV002511566

NM_000419.5(ITGA2B):c.522C>A (p.Tyr174Ter) SNV
Germline
Chr17:44385603 Pathogenic Glanzmann thrombasthenia Criteria Provided
Single Submitter

1 SubmittersRCV002716720

NM_000419.5(ITGA2B):c.1946+2T>G SNV
Germline
Chr17:44378641 Likely pathogenic Glanzmann thrombasthenia Criteria Provided
Single Submitter

1 SubmittersRCV003041017

NM_000212.3(ITGB3):c.615-1G>A SNV
Unknown
Chr17:47286259 Pathogenic Glanzmann thrombasthenia 2 Criteria Provided
Single Submitter

1 SubmittersRCV003153134

NM_000419.5(ITGA2B):c.310+1G>A SNV
Germline
Chr17:44386009 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV003222556

NM_000212.3(ITGB3):c.655G>A (p.Val219Met) SNV
Germline
Chr17:47286300 Likely pathogenic Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel

2 SubmittersRCV003222557RCV003561238

NM_000419.5(ITGA2B):c.2941C>T (p.Gln981Ter) SNV
Germline
Chr17:44374661 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV003222558

NM_000212.3(ITGB3):c.1476G>A (p.Trp492Ter) SNV
Germline
Chr17:47292354 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV003222559

NM_000419.5(ITGA2B):c.470C>A (p.Pro157His) SNV
Germline
Chr17:44385655 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV003222563

NM_000212.3(ITGB3):c.792G>A (p.Trp264Ter) SNV
Germline
Chr17:47287084 Pathogenic Glanzmann thrombasthenia
Condition: not provided
Reviewed By Expert Panel

2 SubmittersRCV003222565RCV003561240

NM_000419.5(ITGA2B):c.1553T>A (p.Ile518Asn) SNV
Germline
Chr17:44380293 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV003222567

NM_000419.5(ITGA2B):c.1946+3G>T SNV
Germline
Chr17:44378640 Likely pathogenic Glanzmann thrombasthenia
Glanzmann thrombasthenia 1
Reviewed By Expert Panel

2 SubmittersRCV003222569RCV003388176

NM_000212.3(ITGB3):c.1990G>T (p.Glu664Ter) SNV
Germline
Chr17:47300554 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV003222573

NM_000419.5(ITGA2B):c.2994G>A (p.Trp998Ter) SNV
Germline
Chr17:44374420 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV003222574

NM_000419.5(ITGA2B):c.520T>C (p.Tyr174His) SNV
Germline
Chr17:44385605 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV003222576

NM_000212.3(ITGB3):c.1723T>C (p.Cys575Arg) SNV
Germline
Chr17:47299340 Pathogenic Glanzmann thrombasthenia 2 Criteria Provided
Single Submitter

1 SubmittersRCV003236384

NM_000419.5(ITGA2B):c.2449-1G>C SNV
Germline
Chr17:44375986 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV003234989

NM_000419.5(ITGA2B):c.1429G>C (p.Ala477Pro) SNV
Germline
Chr17:44380610 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV003234990

NM_000212.3(ITGB3):c.646T>C (p.Tyr216His) SNV
Germline
Chr17:47286291 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV003234995

NM_000419.5(ITGA2B):c.212C>G (p.Pro71Arg) SNV
Germline
Chr17:44386108 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV003234996

NM_000212.3(ITGB3):c.2301+1G>C SNV
Germline
Chr17:47307638 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV003234997

NM_000419.5(ITGA2B):c.399C>G (p.Asp133Glu) SNV
Germline
Chr17:44385833 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV003234998

NM_000419.5(ITGA2B):c.1642C>T (p.Gln548Ter) SNV
Germline
Chr17:44380112 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV003235000

NM_000419.5(ITGA2B):c.959T>C (p.Phe320Ser) SNV
Germline
Chr17:44383933 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV003330341

NM_000419.5(ITGA2B):c.1947-2A>G SNV
Germline
Chr17:44378511 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV003330346

NM_000419.5(ITGA2B):c.1389C>G (p.Tyr463Ter) SNV
Germline
Chr17:44380883 Pathogenic Glanzmann thrombasthenia Criteria Provided
Single Submitter

1 SubmittersRCV003606210

NM_000419.5(ITGA2B):c.1156C>T (p.Arg386Ter) SNV
Germline
Chr17:44383547 Pathogenic Glanzmann thrombasthenia Criteria Provided
Single Submitter

1 SubmittersRCV003606751

NM_000419.5(ITGA2B):c.670G>A (p.Gly224Ser) SNV
Germline
Chr17:44385164 Pathogenic Glanzmann thrombasthenia 1 Criteria Provided
Single Submitter

1 SubmittersRCV004006261

NM_000419.5(ITGA2B):c.189-1G>C SNV
Germline
Chr17:44386132 Likely pathogenic Glanzmann thrombasthenia Criteria Provided
Single Submitter

1 SubmittersRCV004018190

NM_000212.3(ITGB3):c.2085C>G (p.Tyr695Ter) SNV
Germline
Chr17:47302791 Likely pathogenic Glanzmann thrombasthenia Criteria Provided
Single Submitter

1 SubmittersRCV004018191

NM_000419.5(ITGA2B):c.591C>G (p.Tyr197Ter) SNV
Germline
Chr17:44385319 Likely pathogenic Glanzmann thrombasthenia Criteria Provided
Single Submitter

1 SubmittersRCV004018240

NM_000419.5(ITGA2B):c.605T>G (p.Phe202Cys) SNV
Germline
Chr17:44385305 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV004577678

NM_000212.3(ITGB3):c.428T>C (p.Leu143Ser) SNV
Germline
Chr17:47284509 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV004577679

NM_000212.3(ITGB3):c.1815C>T (p.Gly605=) SNV
Germline
Chr17:47299432 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV004577680

NM_000212.3(ITGB3):c.1431C>T (p.Gly477=) SNV
Germline
Chr17:47292309 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV004577681

NM_000419.5(ITGA2B):c.2828C>T (p.Pro943Leu) SNV
Germline
Chr17:44375011 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV004577682

NM_000212.3(ITGB3):c.2222G>A (p.Trp741Ter) SNV
Germline
Chr17:47307558 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV004577683

NM_000419.5(ITGA2B):c.1423C>T (p.Gln475Ter) SNV
Germline
Chr17:44380616 Pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV004577685

NM_000212.3(ITGB3):c.1448G>A (p.Cys483Tyr) SNV
Germline
Chr17:47292326 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV004577686

NM_000212.3(ITGB3):c.563C>T (p.Ser188Leu) SNV
Germline
Chr17:47284644 Likely pathogenic Glanzmann thrombasthenia Reviewed By Expert Panel

1 SubmittersRCV004577691