Sugi Variant

Sugi Variant/ADAMTS13

ADAMTS13 — 1124 ClinVar variants

All ClinVar germline ADAMTS13 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 478 flagged for review →

57 Pathogenic · 14 Pathogenic/Likely pathogenic · 53 Likely pathogenic · 90 Conflicting · 76 Benign · 38 Benign/Likely benign · 332 Likely benign · 464 Uncertain significance

Full ADAMTS13 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 478

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 11

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 26

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 217

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 217

Predictors split 224

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 224

All ADAMTS13 variants

Pathogenic 57

Pathogenic/Likely pathogenic 14

  • c.3044+1G>A Multiple submitters
  • c.330+1G>A Multiple submitters congenital thrombotic thrombocytopenic purpura
  • p.Ala261fs Multiple submitters congenital thrombotic thrombocytopenic purpura
  • p.Ala465fs Multiple submitters ADAMTS13-related disorder
  • p.Ala8fs Multiple submitters
  • p.Arg102Cys Multiple submitters congenital thrombotic thrombocytopenic purpura ⚠
  • p.Arg1060Trp Multiple submitters thrombotic thrombocytopenic purpura ⚠
  • p.Arg1123Cys Multiple submitters congenital thrombotic thrombocytopenic purpura ⚠
  • p.Arg349Cys Multiple submitters congenital thrombotic thrombocytopenic purpura
  • p.Cys1024Gly Multiple submitters thrombotic thrombocytopenic purpura
  • p.Gln684Ter Multiple submitters
  • p.Gln773Ter Multiple submitters
  • p.Ile1161Thr Multiple submitters thrombotic thrombocytopenic purpura ⚠
  • p.Pro353Leu Multiple submitters congenital thrombotic thrombocytopenic purpura ⚠

Likely pathogenic 53

  • c.1705+1G>A Multiple submitters congenital thrombotic thrombocytopenic purpura
  • c.3400+161_3400+175del Multiple submitters congenital thrombotic thrombocytopenic purpura
  • p.Ala690Thr Multiple submitters congenital thrombotic thrombocytopenic purpura ⚠
  • p.Arg102His Multiple submitters congenital thrombotic thrombocytopenic purpura ⚠
  • p.Arg1163Gln Multiple submitters congenital thrombotic thrombocytopenic purpura ⚠
  • p.Arg398Cys Multiple submitters congenital thrombotic thrombocytopenic purpura
  • p.Arg498Cys Multiple submitters congenital thrombotic thrombocytopenic purpura
  • p.Cys1219Ter Multiple submitters congenital thrombotic thrombocytopenic purpura
  • c.1244+1G>C Single submitter ADAMTS13-related disorder
  • c.1308+2_1308+5del Single submitter congenital thrombotic thrombocytopenic purpura
  • c.1584+1G>A Single submitter
  • c.1787-1G>A Single submitter congenital thrombotic thrombocytopenic purpura
  • c.2104+1G>C Single submitter
  • c.2861+1G>A Single submitter
  • c.330+2T>C Single submitter congenital thrombotic thrombocytopenic purpura
  • c.3400+143del Single submitter congenital thrombotic thrombocytopenic purpura
  • c.3548-2A>C Single submitter
  • c.3724+1G>A Single submitter congenital thrombotic thrombocytopenic purpura
  • c.3724+1G>T Single submitter
  • c.415-1G>A Single submitter congenital thrombotic thrombocytopenic purpura
  • c.687-144_729del Single submitter
  • c.687-2A>G Single submitter
  • p.Ala789fs Single submitter
  • p.Arg193Trp Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Arg398Gly Single submitter
  • p.Arg398His Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Asp235His Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Asp551fs Single submitter
  • p.Cys1084Tyr Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Cys1157Arg Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Cys366Tyr Single submitter
  • p.Cys423fs Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Cys758Arg Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Gln725Ter Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Gln94Ter Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Glu641Lys Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Glu720fs Single submitter
  • p.Gly761Ser Single submitter ⚠
  • p.His234Gln Single submitter
  • p.Ile673Phe Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Leu1202fs Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Lys852fs Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Ser119Phe Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Trp283Ter Single submitter ADAMTS13-related disorder
  • p.Trp28Ter Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Trp746Ter Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Tyr305Ter Single submitter
  • p.Tyr617Ter Single submitter
  • c.1585-1G>C No assertion criteria congenital thrombotic thrombocytopenic purpura
  • p.Cys710Trp No assertion criteria congenital thrombotic thrombocytopenic purpura
  • p.Leu56Ter No assertion criteria ADAMTS13-related disorder
  • p.Met446fs No assertion criteria congenital thrombotic thrombocytopenic purpura
  • p.Thr1313_Thr1351del No assertion criteria congenital thrombotic thrombocytopenic purpura

Conflicting classifications of pathogenicity 90

  • c.1245-3C>T Single submitter
  • c.1435+11C>T Single submitter congenital thrombotic thrombocytopenic purpura
  • c.1436-7C>G Single submitter congenital thrombotic thrombocytopenic purpura
  • c.1584+5G>A Single submitter congenital thrombotic thrombocytopenic purpura
  • c.1787-6C>T Single submitter congenital thrombotic thrombocytopenic purpura
  • c.3044+10C>T Single submitter congenital thrombotic thrombocytopenic purpura
  • c.3044+8A>C Single submitter congenital thrombotic thrombocytopenic purpura
  • c.3400+111C>T Single submitter Inborn genetic diseases ⚠
  • c.3400+17G>T Single submitter congenital thrombotic thrombocytopenic purpura
  • c.3400+23C>T Single submitter congenital thrombotic thrombocytopenic purpura
  • c.3400+32C>T Single submitter congenital thrombotic thrombocytopenic purpura
  • c.3400+33G>A Single submitter Inborn genetic diseases ⚠
  • c.3400+46G>A Single submitter Inborn genetic diseases ⚠
  • c.3400+4C>T Single submitter Inborn genetic diseases ⚠
  • c.415-5C>T Single submitter congenital thrombotic thrombocytopenic purpura
  • c.539+6C>T Single submitter congenital thrombotic thrombocytopenic purpura
  • c.539+7G>A Single submitter
  • c.687-8C>A Single submitter
  • c.687-8C>G Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Ala1053Val Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Ala1106Val Single submitter Inborn genetic diseases ⚠
  • p.Ala1292Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1341Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala20Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala307Thr Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Ala564Asp Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Ala795Val Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Arg1095Gln Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Arg1191Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg1221Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg125= Single submitter
  • p.Arg370His Single submitter Inborn genetic diseases ⚠
  • p.Arg386Cys Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Arg386His Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Arg421Cys Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Arg639His Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Arg670Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg670His Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Arg73_Arg74insGlnArg Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Arg768His Single submitter Inborn genetic diseases ⚠
  • p.Arg916Cys Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Arg972Gln Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Arg979Gln Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Asn1298Asp Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Asp1051= Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Asp187His Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Asp235Tyr Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Cys1219= Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Cys242Tyr Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Cys396Trp Single submitter Inborn genetic diseases ⚠
  • p.Cys400= Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Gln269His Single submitter Inborn genetic diseases ⚠
  • p.Gln723Lys Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Glu1336Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu136Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly1134Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly1220Arg Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Gly464= Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Gly464Ser Single submitter ⚠
  • p.Gly479= Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Gly517= Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Gly752Ser Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Gly77= Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Gly78Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly982Arg Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.His5= Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Ile143Val Single submitter Inborn genetic diseases ⚠
  • p.Leu1116= Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Leu1165= Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Leu1339= Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Leu703= Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Leu739= Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Pro290= Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Pro457Leu Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Pro475Ser Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Pro90= Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Ser447= Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Ser493Arg Single submitter Inborn genetic diseases ⚠
  • p.Thr1098Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr1238= Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Thr453= Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Val195Ile Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Val352Ile Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Val604Ile Single submitter ADAMTS13-related disorder ⚠
  • p.Val626= Single submitter congenital thrombotic thrombocytopenic purpura
  • p.Val770Met Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Val849Ile Single submitter Thrombus ⚠
  • p.Val88Met Single submitter congenital thrombotic thrombocytopenic purpura ⚠
  • p.Val896Met Single submitter Inborn genetic diseases ⚠
  • p.Val964Met Single submitter congenital thrombotic thrombocytopenic purpura ⚠

Benign 76

Benign/Likely benign 38

Likely benign 332

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 464

Showing the top 300 by review status; the full set is in the sitemap.