Total 148 pathogenic variants reported for Upshaw-Schulman syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_139027.6(ADAMTS13):c.286C>G (p.His96Asp) SNV
Germline
Chr9:133424434 Pathogenic Upshaw-Schulman syndrome No Assertion Criteria Provided
CA117739 rs_121908467

1 SubmittersRCV000006154

NM_139027.6(ADAMTS13):c.2851T>G (p.Cys951Gly) SNV
Germline
Chr9:133448718 Pathogenic Upshaw-Schulman syndrome No Assertion Criteria Provided
CA117742 rs_121908468

1 SubmittersRCV000006155

NM_139027.6(ADAMTS13):c.304C>T (p.Arg102Cys) SNV
Germline
Chr9:133424452 Pathogenic/Likely pathogenic Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA117745 rs_121908469

3 SubmittersRCV000006156RCV006277640

NM_139027.6(ADAMTS13):c.587C>T (p.Thr196Ile) SNV
Germline
Chr9:133426246 Pathogenic Upshaw-Schulman syndrome
Condition: not provided
Thrombotic thrombocytopenic purpura
Criteria Provided
Multiple Submitters
No Conflicts
CA117748 rs_121908470

5 SubmittersRCV000006157RCV001507764RCV006268071

NM_139027.6(ADAMTS13):c.1193G>A (p.Arg398His) SNV
Germline
Chr9:133433478 Likely pathogenic Upshaw-Schulman syndrome Criteria Provided
Single Submitter
CA117751 rs_121908471

2 SubmittersRCV000006158

NM_139027.6(ADAMTS13):c.3070T>G (p.Cys1024Gly) SNV
Germline
Chr9:133454440 Pathogenic/Likely pathogenic Upshaw-Schulman syndrome
Condition: not provided
Thrombotic thrombocytopenic purpura
Criteria Provided
Multiple Submitters
No Conflicts
CA117754 rs_121908472

6 SubmittersRCV000006159RCV002512821RCV004700192

NM_139027.6(ADAMTS13):c.3470G>A (p.Cys1157Tyr) SNV
Germline
Chr9:133456138 Pathogenic Upshaw-Schulman syndrome No Assertion Criteria Provided
CA117766 rs_121908474

1 SubmittersRCV000006164

NM_139027.6(ADAMTS13):c.2074C>T (p.Arg692Cys) SNV
Germline
Chr9:133442504 Pathogenic Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA117769 rs_121908475

3 SubmittersRCV000006165RCV002512822

NM_139027.6(ADAMTS13):c.1584+5G>A SNV
Germline
Chr9:133437902 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200930456 rs_782235228

3 SubmittersRCV000006166RCV002512823

NM_139027.6(ADAMTS13):c.1345C>T (p.Gln449Ter) SNV
Germline
Chr9:133436865 Pathogenic Upshaw-Schulman syndrome No Assertion Criteria Provided
CA117772 rs_121908476

1 SubmittersRCV000006167

NM_139027.6(ADAMTS13):c.803G>C (p.Arg268Pro) SNV
Germline
Chr9:133428750 Pathogenic Upshaw-Schulman syndrome No Assertion Criteria Provided
CA117776 rs_121908477

1 SubmittersRCV000006168

NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) SNV
Germline
Chr9:133436943 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA117779 rs_11575933

6 SubmittersRCV000006170RCV000251648RCV000767050

NM_139027.6(ADAMTS13):c.414+1G>A SNV
Germline
Chr9:133425613 Pathogenic Upshaw-Schulman syndrome No Assertion Criteria Provided
CA212840 rs_786205077

1 SubmittersRCV000006173

NM_139027.6(ADAMTS13):c.749C>T (p.Ala250Val) SNV
Germline
Chr9:133428696 Pathogenic Upshaw-Schulman syndrome No Assertion Criteria Provided
CA117785 rs_121908478

1 SubmittersRCV000006174

NM_139027.6(ADAMTS13):c.331-1G>A SNV
Germline
Chr9:133425528 Pathogenic Upshaw-Schulman syndrome No Assertion Criteria Provided
CA212842 rs_786205078

1 SubmittersRCV000006175

NM_139027.6(ADAMTS13):c.1045C>T (p.Arg349Cys) SNV
Germline
Chr9:133432645 Pathogenic/Likely pathogenic Condition: not provided
Upshaw-Schulman syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA219974 rs_281875288

4 SubmittersRCV000059751RCV005859492

NM_139027.6(ADAMTS13):c.1058C>T (p.Pro353Leu) SNV
Germline
Chr9:133432658 Pathogenic/Likely pathogenic Condition: not provided
Upshaw-Schulman syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA219977 rs_281875338

4 SubmittersRCV000059752RCV005042186

NM_139027.6(ADAMTS13):c.2017A>T (p.Ile673Phe) SNV
Germline
Chr9:133442447 Likely pathogenic Condition: not provided
Upshaw-Schulman syndrome
Criteria Provided
Single Submitter
CA220004 rs_281875307

2 SubmittersRCV000059761RCV000779575

NM_139027.6(ADAMTS13):c.2272T>C (p.Cys758Arg) SNV
Germline
Chr9:133443413 Likely pathogenic Condition: not provided
Upshaw-Schulman syndrome
Criteria Provided
Single Submitter
CA220007 rs_281875300

2 SubmittersRCV000059762RCV005042187

NM_139027.6(ADAMTS13):c.262G>A (p.Val88Met) SNV
Germline
Chr9:133424410 Conflicting classifications of pathogenicity Condition: not provided
Upshaw-Schulman syndrome
Criteria Provided
Conflicting Classifications
CA220013 rs_281875302

3 SubmittersRCV000059764RCV000778160

NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) SNV
Germline
Chr9:133454548 Pathogenic/Likely pathogenic Condition: not provided
Upshaw-Schulman syndrome
Thrombotic thrombocytopenic purpura
ADAMTS13-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA220022 rs_142572218

23 SubmittersRCV000059767RCV000779576RCV002469002RCV003952487

NM_139027.6(ADAMTS13):c.3367C>T (p.Arg1123Cys) SNV
Germline
Chr9:133455402 Pathogenic/Likely pathogenic Condition: not provided
Upshaw-Schulman syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA220025 rs_281875340

4 SubmittersRCV000059768RCV005042188

NM_139027.6(ADAMTS13):c.356C>T (p.Ser119Phe) SNV
Unknown
Chr9:133425554 Likely pathogenic Condition: not provided
Upshaw-Schulman syndrome
Criteria Provided
Single Submitter
CA220028 rs_281875291

2 SubmittersRCV000059769RCV002221146

NM_139027.6(ADAMTS13):c.577C>T (p.Arg193Trp) SNV
Germline
Chr9:133426236 Likely pathogenic Condition: not provided
Upshaw-Schulman syndrome
ADAMTS13-related disorder
Criteria Provided
Single Submitter
CA220047 rs_281875287

3 SubmittersRCV000059775RCV000516791RCV003894915

NM_139027.6(ADAMTS13):c.703G>C (p.Asp235His) SNV
Germline
Chr9:133428650 Likely pathogenic Condition: not provided
Upshaw-Schulman syndrome
Criteria Provided
Single Submitter
CA220059 rs_281875337

2 SubmittersRCV000059779RCV003313775

NM_139027.6(ADAMTS13):c.2167C>A (p.Gln723Lys) SNV
Germline
Chr9:133442676 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200934097 rs_138014548

3 SubmittersRCV000490375RCV002515591

NM_139027.6(ADAMTS13):c.415-5C>T SNV
Germline
Chr9:133425933 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA10626722 rs_200230025

5 SubmittersRCV000281583RCV000929988RCV003387835

NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu) SNV
Germline
Chr9:133436890 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Atypical hemolytic-uremic syndrome
not specified
ADAMTS13-related disorder
Criteria Provided
Conflicting Classifications
CA10626723 rs_36220240

12 SubmittersRCV000279550RCV000886026RCV001328115RCV001420918RCV003902425

NM_139027.6(ADAMTS13):c.1787-6C>T SNV
Germline
Chr9:133440338 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10626724 rs_781938740

2 SubmittersRCV000340502RCV005055940

NM_139027.6(ADAMTS13):c.2107C>T (p.Leu703=) SNV
Germline
Chr9:133442616 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA10629414 rs_146314458

3 SubmittersRCV000370696RCV003546556RCV005407083

NM_139027.6(ADAMTS13):c.2915G>A (p.Arg972Gln) SNV
Germline
Chr9:133449836 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA10629426 rs_139951127

4 SubmittersRCV000284710RCV002523750RCV006458321

NM_139027.6(ADAMTS13):c.3044+10C>T SNV
Germline
Chr9:133449975 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10629429 rs_375335095

2 SubmittersRCV000290578RCV003727721

NM_139027.6(ADAMTS13):c.3495C>T (p.Leu1165=) SNV
Germline
Chr9:133456163 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10629431 rs_144916851

3 SubmittersRCV000393277RCV000925152

NM_139027.6(ADAMTS13):c.3658G>A (p.Gly1220Arg) SNV
Germline
Chr9:133456653 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA10629432 rs_144808448

5 SubmittersRCV000360950RCV000658135RCV004689727

NM_139027.6(ADAMTS13):c.1341G>A (p.Ser447=) SNV
Germline
Chr9:133436861 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10632751 rs_587602874

2 SubmittersRCV000388478RCV006612326

NM_139027.6(ADAMTS13):c.1359C>T (p.Thr453=) SNV
Germline
Chr9:133436879 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10632754 rs_148365271

3 SubmittersRCV000330336RCV002524589

NM_139027.6(ADAMTS13):c.3044+8A>C SNV
Germline
Chr9:133449973 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10632756 rs_886063636

2 SubmittersRCV000384858RCV003574765

NM_139027.6(ADAMTS13):c.3153C>T (p.Asp1051=) SNV
Germline
Chr9:133454523 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10632757 rs_782748173

2 SubmittersRCV000296620RCV003574766

NM_139027.6(ADAMTS13):c.3348G>A (p.Leu1116=) SNV
Germline
Chr9:133455383 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10632758 rs_146073007

2 SubmittersRCV000402839RCV000910664

NM_139027.6(ADAMTS13):c.870C>T (p.Pro290=) SNV
Germline
Chr9:133429984 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10633054 rs_754541465

2 SubmittersRCV000309287RCV003718228

NM_139027.6(ADAMTS13):c.1435+11C>T SNV
Germline
Chr9:133436966 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10633056 rs_377454829

2 SubmittersRCV000379918RCV002523748

NM_139027.6(ADAMTS13):c.1551G>C (p.Gly517=) SNV
Germline
Chr9:133437864 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10633057 rs_148472763

4 SubmittersRCV000285508RCV000889644

NM_139027.6(ADAMTS13):c.2217C>T (p.Leu739=) SNV
Germline
Chr9:133442726 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10633059 rs_144178018

4 SubmittersRCV000276197RCV000968853

NM_139027.6(ADAMTS13):c.2308G>A (p.Val770Met) SNV
Germline
Chr9:133443449 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA10633064 rs_374606481

5 SubmittersRCV000367074RCV000597955RCV004022108

NM_139027.6(ADAMTS13):c.3400+17G>T SNV
Germline
Chr9:133455452 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10633068 rs_782724202

3 SubmittersRCV000312147RCV002523751

NM_139027.6(ADAMTS13):c.1585-1G>C SNV
Germline
Chr9:133438245 Likely pathogenic Upshaw-Schulman syndrome No Assertion Criteria Provided
CA375393311 rs_1554789680

1 SubmittersRCV000505577

NM_139027.6(ADAMTS13):c.1261C>T (p.Arg421Cys) SNV
Germline
Chr9:133433657 Conflicting classifications of pathogenicity Condition: not provided
Upshaw-Schulman syndrome
See cases
not specified
Ovarian serous cystadenocarcinoma
Criteria Provided
Conflicting Classifications
CA200927187 rs_145825553

9 SubmittersRCV000520845RCV001253918RCV003128409RCV004701597RCV005901184

NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) SNV
Germline
Chr9:133426218 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
not specified
Condition: not provided
ADAMTS13-related disorder
Criteria Provided
Conflicting Classifications
CA200922204 rs_148312697

11 SubmittersRCV000778929RCV003994114RCV001507763RCV004754560

NM_139027.6(ADAMTS13):c.330+1G>A SNV
Germline
Chr9:133424479 Pathogenic/Likely pathogenic Upshaw-Schulman syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA200880306 rs_375415632

2 SubmittersRCV000778876

NM_139027.6(ADAMTS13):c.415-1G>A SNV
Germline
Chr9:133425937 Likely pathogenic Upshaw-Schulman syndrome Criteria Provided
Single Submitter
CA375382440 rs_1554785114

1 SubmittersRCV000826095

NM_139027.6(ADAMTS13):c.1200C>T (p.Cys400=) SNV
Germline
Chr9:133433485 Conflicting classifications of pathogenicity Condition: not provided
Upshaw-Schulman syndrome
not specified
Criteria Provided
Conflicting Classifications
CA200926970 rs_142570561

4 SubmittersRCV000909420RCV001168913RCV004586978

NM_139027.6(ADAMTS13):c.15C>T (p.His5=) SNV
Germline
Chr9:133422458 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200879008 rs_77985067

2 SubmittersRCV001168075RCV002559608

NM_139027.6(ADAMTS13):c.231C>T (p.Gly77=) SNV
Germline
Chr9:133424379 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200880169 rs_367627378

3 SubmittersRCV001168077RCV003727933

NM_139027.6(ADAMTS13):c.1156C>T (p.Arg386Cys) SNV
Germline
Chr9:133433441 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200926912 rs_142214608

4 SubmittersRCV001168911RCV002557458

NM_139027.6(ADAMTS13):c.1157G>A (p.Arg386His) SNV
Germline
Chr9:133433442 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200926915 rs_151048660

6 SubmittersRCV001168912RCV001859095

NM_139027.6(ADAMTS13):c.1392C>T (p.Gly464=) SNV
Germline
Chr9:133436912 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200929700 rs_782239711

2 SubmittersRCV001166021RCV002559589

NM_139027.6(ADAMTS13):c.1437G>A (p.Gly479=) SNV
Germline
Chr9:133437750 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200930219 rs_372953477

2 SubmittersRCV001167594RCV006557073

NM_139027.6(ADAMTS13):c.1878C>T (p.Val626=) SNV
Germline
Chr9:133440435 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200932529 rs_781945326

2 SubmittersRCV001166071RCV005093692

NM_139027.6(ADAMTS13):c.1916G>A (p.Arg639His) SNV
Germline
Chr9:133440473 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200932562 rs_138699340

4 SubmittersRCV001166073RCV004032882RCV004695084

NM_139027.6(ADAMTS13):c.2545G>A (p.Val849Ile) SNV
Germline
Chr9:133444987 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Thrombus
ADAMTS13-related disorder
Criteria Provided
Conflicting Classifications
CA200936055 rs_140639242

7 SubmittersRCV001168295RCV001356938RCV002280897RCV003928768

NM_139027.6(ADAMTS13):c.2890G>A (p.Val964Met) SNV
Germline
Chr9:133449811 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA200940013 rs_141811556

4 SubmittersRCV001166126RCV002559590RCV003994226

NM_139027.6(ADAMTS13):c.2944G>A (p.Gly982Arg) SNV
Germline
Chr9:133449865 Conflicting classifications of pathogenicity Condition: not provided
Upshaw-Schulman syndrome
not specified
Criteria Provided
Conflicting Classifications
CA200940058 rs_36222275

5 SubmittersRCV002119552RCV003138076RCV003235673

NM_139027.6(ADAMTS13):c.3400+23C>T SNV
Germline
Chr9:133455458 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200944151 rs_200547311

2 SubmittersRCV001168361RCV002559614

NM_139027.6(ADAMTS13):c.3400+32C>T SNV
Germline
Chr9:133455467 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA860743402 rs_1554795505

2 SubmittersRCV001168362RCV003769819

NM_139027.6(ADAMTS13):c.3657C>T (p.Cys1219=) SNV
Germline
Chr9:133456652 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200945494 rs_782463983

3 SubmittersRCV001166190RCV003769806

NM_139027.6(ADAMTS13):c.4017G>A (p.Leu1339=) SNV
Germline
Chr9:133459081 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA860747440 rs_1393965473

2 SubmittersRCV001166688RCV003727929

NM_139027.6(ADAMTS13):c.539+6C>T SNV
Germline
Chr9:133426068 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200921997 rs_782661001

4 SubmittersRCV001165961RCV005437009RCV002557422

NM_139027.6(ADAMTS13):c.824+8C>T SNV
Germline
Chr9:133428779 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA200924031 rs_781862563

2 SubmittersRCV001167528RCV006465522

NM_139027.6(ADAMTS13):c.427A>G (p.Ile143Val) SNV
Germline
Chr9:133425950 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA200921838 rs_145175796

5 SubmittersRCV001333529RCV001507762RCV004035763

NM_139027.6(ADAMTS13):c.1810G>A (p.Val604Ile) SNV
Germline
Chr9:133440367 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
ADAMTS13-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA200932344 rs_34256013

5 SubmittersRCV001333526RCV002546637RCV003426048RCV005408840

NM_139027.6(ADAMTS13):c.3284G>A (p.Arg1095Gln) SNV
Germline
Chr9:133455319 Conflicting classifications of pathogenicity Condition: not provided
Upshaw-Schulman syndrome
Criteria Provided
Conflicting Classifications
CA200943932 rs_373569027

3 SubmittersRCV001358530RCV005040211

NM_139027.6(ADAMTS13):c.2068G>A (p.Ala690Thr) SNV
Germline
Chr9:133442498 Likely pathogenic Condition: not provided
Upshaw-Schulman syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA200933928 rs_374840594

2 SubmittersRCV001507767RCV005040297

NM_139027.6(ADAMTS13):c.2936G>A (p.Arg979Gln) SNV
Germline
Chr9:133449857 Conflicting classifications of pathogenicity Condition: not provided
not specified
Upshaw-Schulman syndrome
Criteria Provided
Conflicting Classifications
CA200940053 rs_142779872

5 SubmittersRCV001507770RCV003490263RCV004558626

NM_139027.6(ADAMTS13):c.3400+46G>A SNV
Germline
Chr9:133455481 Conflicting classifications of pathogenicity Condition: not provided
Upshaw-Schulman syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA200944174 rs_782472825

3 SubmittersRCV001507774RCV005040298RCV005802194

NM_139027.6(ADAMTS13):c.3488G>A (p.Arg1163Gln) SNV
Germline
Chr9:133456156 Likely pathogenic Condition: not provided
Upshaw-Schulman syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA200944824 rs_782649881

3 SubmittersRCV001508645RCV005040301

NM_139027.6(ADAMTS13):c.330+2T>C SNV
Unknown
Chr9:133424480 Likely pathogenic Upshaw-Schulman syndrome Criteria Provided
Single Submitter
CA375707325 rs_1474290508

1 SubmittersRCV001536088

NM_139027.6(ADAMTS13):c.2130C>G (p.Cys710Trp) SNV
Germline
Chr9:133442639 Likely pathogenic Upshaw-Schulman syndrome No Assertion Criteria Provided
CA375397241 rs_1841759683

1 SubmittersRCV001729960

NM_139027.6(ADAMTS13):c.2746C>T (p.Arg916Cys) SNV
Germline
Chr9:133448613 Conflicting classifications of pathogenicity Condition: not provided
ADAMTS13-related disorder
Upshaw-Schulman syndrome
not specified
Criteria Provided
Conflicting Classifications
CA200938991 rs_374444423

6 SubmittersRCV001756677RCV004754782RCV005040345RCV006457479

NM_139027.6(ADAMTS13):c.2686G>A (p.Val896Met) SNV
Germline
Chr9:133445774 Conflicting classifications of pathogenicity Condition: not provided
not specified
Upshaw-Schulman syndrome
Inborn genetic diseases
ADAMTS13-related disorder
Criteria Provided
Conflicting Classifications
CA200936784 rs_147732725

6 SubmittersRCV001767161RCV001821981RCV002488544RCV004040131RCV004754786

NM_139027.6(ADAMTS13):c.1492C>T (p.Arg498Cys) SNV
Germline
Chr9:133437805 Likely pathogenic Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA200930293 rs_201457594

3 SubmittersRCV001785886RCV003728006

NM_139027.6(ADAMTS13):c.3724+1G>A SNV
Germline
Chr9:133456720 Likely pathogenic Upshaw-Schulman syndrome Criteria Provided
Single Submitter
CA375417875 rs_1554796161

1 SubmittersRCV003990476

NM_139027.6(ADAMTS13):c.2384C>T (p.Ala795Val) SNV
Germline
Chr9:133443525 Conflicting classifications of pathogenicity not specified
Condition: not provided
Upshaw-Schulman syndrome
Criteria Provided
Conflicting Classifications
CA200934894 rs_201607490

5 SubmittersRCV001822224RCV002541958RCV005361740

NM_139027.6(ADAMTS13):c.3482T>C (p.Ile1161Thr) SNV
Germline
Chr9:133456150 Pathogenic Condition: not provided
Upshaw-Schulman syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA200944792 rs_200847393

3 SubmittersRCV001843981RCV005040408

NM_139027.6(ADAMTS13):c.1188C>G (p.Cys396Trp) SNV
Germline
Chr9:133433473 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Upshaw-Schulman syndrome
Criteria Provided
Conflicting Classifications
CA375389474 rs_1840934191

4 SubmittersRCV001918283RCV004042737RCV002484427

NM_139027.6(ADAMTS13):c.3317C>T (p.Ala1106Val) SNV
Germline
Chr9:133455352 Conflicting classifications of pathogenicity Condition: not provided
Upshaw-Schulman syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA200943993 rs_370060687

3 SubmittersRCV002011031RCV002492324RCV005308674

NM_139027.6(ADAMTS13):c.84G>A (p.Trp28Ter) SNV
Unknown
Chr9:133422527 Likely pathogenic Upshaw-Schulman syndrome Criteria Provided
Single Submitter
CA375706775 rs_2130769073

1 SubmittersRCV002223117

NM_139027.6(ADAMTS13):c.2008C>T (p.Arg670Cys) SNV
Germline
Chr9:133442438 Conflicting classifications of pathogenicity Condition: not provided
Upshaw-Schulman syndrome
Inborn genetic diseases
ADAMTS13-related disorder
Criteria Provided
Conflicting Classifications
CA200933870 rs_139214644

5 SubmittersRCV002261880RCV002488653RCV004047419RCV004754870

NM_139027.6(ADAMTS13):c.2009G>A (p.Arg670His) SNV
Germline
Chr9:133442439 Conflicting classifications of pathogenicity Condition: not provided
Upshaw-Schulman syndrome
Criteria Provided
Conflicting Classifications
CA200933871 rs_149953167

4 SubmittersRCV002261881RCV002488654

NM_139027.6(ADAMTS13):c.3251G>A (p.Cys1084Tyr) SNV
Germline
Chr9:133455286 Likely pathogenic Upshaw-Schulman syndrome Criteria Provided
Single Submitter
CA375411222 rs_1554795391

1 SubmittersRCV002274487

NM_139027.6(ADAMTS13):c.1192C>T (p.Arg398Cys) SNV
Germline
Chr9:133433477 Likely pathogenic Upshaw-Schulman syndrome Criteria Provided
Single Submitter
CA200926963 rs_376606652

1 SubmittersRCV002274488

NM_139027.6(ADAMTS13):c.3242G>A (p.Trp1081Ter) SNV
Germline
Chr9:133454612 Pathogenic Upshaw-Schulman syndrome Criteria Provided
Single Submitter
CA375410941 rs_2490464967

1 SubmittersRCV002283699

NM_139027.6(ADAMTS13):c.85G>T (p.Gly29Ter) SNV
Germline
Chr9:133422528 Pathogenic Upshaw-Schulman syndrome Criteria Provided
Single Submitter
CA375706780 rs_1840019690

1 SubmittersRCV002283959

NM_139027.6(ADAMTS13):c.1169G>A (p.Trp390Ter) SNV
Germline
Chr9:133433454 Pathogenic Upshaw-Schulman syndrome Criteria Provided
Multiple Submitters
No Conflicts
CA200926932 rs_374655146

2 SubmittersRCV002468903

NM_139027.6(ADAMTS13):c.1691C>A (p.Ala564Asp) SNV
Germline
Chr9:133438352 Conflicting classifications of pathogenicity Condition: not provided
Upshaw-Schulman syndrome
Criteria Provided
Conflicting Classifications
CA200930791 rs_140628579

3 SubmittersRCV003060484RCV003138476

NM_139027.6(ADAMTS13):c.703G>T (p.Asp235Tyr) SNV
Germline
Chr9:133428650 Conflicting classifications of pathogenicity Condition: not provided
Upshaw-Schulman syndrome
Criteria Provided
Conflicting Classifications
CA375384817 rs_281875337

3 SubmittersRCV003062241RCV005045191

NM_139027.6(ADAMTS13):c.1477A>C (p.Ser493Arg) SNV
Germline
Chr9:133437790 Conflicting classifications of pathogenicity Condition: not provided
Inborn genetic diseases
Upshaw-Schulman syndrome
Criteria Provided
Conflicting Classifications
CA200930266 rs_377220995

4 SubmittersRCV002886503RCV003167890RCV005045036

NM_139027.6(ADAMTS13):c.3400G>A (p.Gly1134Ser) SNV
Germline
Chr9:133455435 Conflicting classifications of pathogenicity Condition: not provided
not specified
Upshaw-Schulman syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA200944106 rs_782311486

4 SubmittersRCV002922155RCV004587390RCV005045055RCV006307259

NM_139027.6(ADAMTS13):c.2254G>A (p.Gly752Ser) SNV
Germline
Chr9:133443395 Conflicting classifications of pathogenicity Condition: not provided
ADAMTS13-related disorder
Upshaw-Schulman syndrome
not specified
Criteria Provided
Conflicting Classifications
CA200934693 rs_148734700

6 SubmittersRCV002971749RCV003961326RCV005045121RCV006269736

NM_139027.6(ADAMTS13):c.687-8C>G SNV
Germline
Chr9:133428626 Conflicting classifications of pathogenicity Condition: not provided
Upshaw-Schulman syndrome
Criteria Provided
Conflicting Classifications
CA200923899 rs_898957135

2 SubmittersRCV002942654RCV005050665

NM_139027.6(ADAMTS13):c.3571C>T (p.Arg1191Trp) SNV
Germline
Chr9:133456566 Conflicting classifications of pathogenicity Condition: not provided
ADAMTS13-related disorder
Inborn genetic diseases
Upshaw-Schulman syndrome
Criteria Provided
Conflicting Classifications
CA200945311 rs_142489534

5 SubmittersRCV002971067RCV003418672RCV005542867RCV005045111

NM_139027.6(ADAMTS13):c.583G>A (p.Val195Ile) SNV
Germline
Chr9:133426242 Conflicting classifications of pathogenicity Condition: not provided
Upshaw-Schulman syndrome
Criteria Provided
Conflicting Classifications
CA200922231 rs_138489501

2 SubmittersRCV002938976RCV005045085

NM_139027.6(ADAMTS13):c.58G>A (p.Ala20Thr) SNV
Germline
Chr9:133422501 Conflicting classifications of pathogenicity Inborn genetic diseases
Upshaw-Schulman syndrome
not specified
Criteria Provided
Conflicting Classifications
CA200879055 rs_142293909

3 SubmittersRCV002689537RCV005052022RCV004801307

NM_139027.6(ADAMTS13):c.3292A>G (p.Thr1098Ala) SNV
Germline
Chr9:133455327 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA200943964 rs_944652890

2 SubmittersRCV003148229RCV005310962

NM_139027.6(ADAMTS13):c.1705+1G>A SNV
Germline
Chr9:133438367 Likely pathogenic Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA375394024 rs_2491219604

2 SubmittersRCV003225617RCV003565638

NM_139027.6(ADAMTS13):c.1921G>A (p.Glu641Lys) SNV
Germline
Chr9:133440478 Likely pathogenic Upshaw-Schulman syndrome Criteria Provided
Single Submitter
CA200932571 rs_782547718

1 SubmittersRCV003338169

NM_139027.6(ADAMTS13):c.3158C>T (p.Ala1053Val) SNV
Germline
Chr9:133454528 Conflicting classifications of pathogenicity Condition: not provided
ADAMTS13-related disorder
Upshaw-Schulman syndrome
not specified
Criteria Provided
Conflicting Classifications
CA200943158 rs_373530345

4 SubmittersRCV003481948RCV003966450RCV005047626RCV005419638

NM_139027.6(ADAMTS13):c.305G>A (p.Arg102His) SNV
Germline
Chr9:133424453 Likely pathogenic Condition: not provided
Upshaw-Schulman syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA200880293 rs_782716712

3 SubmittersRCV003480480RCV005047630

NM_139027.6(ADAMTS13):c.1109G>A (p.Arg370His) SNV
Germline
Chr9:133433394 Conflicting classifications of pathogenicity Condition: not provided
ADAMTS13-related disorder
not specified
Upshaw-Schulman syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA200926852 rs_200406381

6 SubmittersRCV003545210RCV003966462RCV004526262RCV005051323RCV005323464

NM_139027.6(ADAMTS13):c.4006G>A (p.Glu1336Lys) SNV
Germline
Chr9:133459070 Conflicting classifications of pathogenicity Condition: not provided
Upshaw-Schulman syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA200947645 rs_782604159

3 SubmittersRCV003843656RCV005040557RCV004366927

NM_139027.6(ADAMTS13):c.3714C>T (p.Thr1238=) SNV
Germline
Chr9:133456709 Conflicting classifications of pathogenicity Condition: not provided
Upshaw-Schulman syndrome
Criteria Provided
Conflicting Classifications
CA2692367644 rs_2490512531

2 SubmittersRCV003859341RCV005040576

NM_139027.6(ADAMTS13):c.270C>T (p.Pro90=) SNV
Germline
Chr9:133424418 Conflicting classifications of pathogenicity Condition: not provided
Upshaw-Schulman syndrome
not specified
Criteria Provided
Conflicting Classifications
CA200880262 rs_756898709

3 SubmittersRCV003861087RCV005040583RCV005433483

NM_139027.6(ADAMTS13):c.3547G>A (p.Gly1183Arg) SNV
Germline
Chr9:133456215 Pathogenic Upshaw-Schulman syndrome Criteria Provided
Single Submitter
CA375415780 rs_2490499610

1 SubmittersRCV003990403

NM_139027.6(ADAMTS13):c.3892A>G (p.Asn1298Asp) SNV
Germline
Chr9:133458077 Conflicting classifications of pathogenicity Inborn genetic diseases
Upshaw-Schulman syndrome
Criteria Provided
Conflicting Classifications
CA200946909 rs_782109481

2 SubmittersRCV004444464RCV005358102

NM_139027.6(ADAMTS13):c.3657C>A (p.Cys1219Ter) SNV
Germline
Chr9:133456652 Likely pathogenic Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA200945493 rs_782463983

2 SubmittersRCV004545919RCV004791691

NM_139027.6(ADAMTS13):c.725G>A (p.Cys242Tyr) SNV
Germline
Chr9:133428672 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome Criteria Provided
Conflicting Classifications
rs_2491101006

2 SubmittersRCV004594808

NM_139027.6(ADAMTS13):c.919G>A (p.Ala307Thr) SNV
Germline
Chr9:133430033 Conflicting classifications of pathogenicity Inborn genetic diseases
Upshaw-Schulman syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications

5 SubmittersRCV004607509RCV005040714RCV005102135RCV005407323

NM_139027.6(ADAMTS13):c.2865G>A (p.Trp955Ter) SNV
Germline
Chr9:133449786 Pathogenic Upshaw-Schulman syndrome No Assertion Criteria Provided

1 SubmittersRCV004765392

NM_139027.6(ADAMTS13):c.1054G>A (p.Val352Ile) SNV
Germline
Chr9:133432654 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005040830RCV004967751

NM_139027.6(ADAMTS13):c.3400+33G>A SNV
Germline
Chr9:133455468 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005046022RCV005545216

NM_139027.6(ADAMTS13):c.232G>A (p.Gly78Ser) SNV
Germline
Chr9:133424380 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005048954RCV006307571

NM_139027.6(ADAMTS13):c.280C>T (p.Gln94Ter) SNV
Germline
Chr9:133424428 Likely pathogenic Upshaw-Schulman syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005045933

NM_139027.6(ADAMTS13):c.1436-7C>G SNV
Germline
Chr9:133437742 Conflicting classifications of pathogenicity Upshaw-Schulman syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005048964RCV006444341

NM_139027.6(ADAMTS13):c.1787-1G>A SNV
Germline
Chr9:133440343 Likely pathogenic Upshaw-Schulman syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005045978

NM_139027.6(ADAMTS13):c.2173C>T (p.Gln725Ter) SNV
Germline
Chr9:133442682 Likely pathogenic Upshaw-Schulman syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005045992

NM_139027.6(ADAMTS13):c.2237G>A (p.Trp746Ter) SNV
Germline
Chr9:133443378 Likely pathogenic Upshaw-Schulman syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005045994

NM_139027.6(ADAMTS13):c.3469T>C (p.Cys1157Arg) SNV
Germline
Chr9:133456137 Likely pathogenic Upshaw-Schulman syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005403801

NM_139027.6(ADAMTS13):c.2153T>A (p.Leu718Ter) SNV
Germline
Chr9:133442662 Pathogenic Upshaw-Schulman syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005403806