Sugi Variant

Sugi Variant/RUNX1

RUNX1 — 1734 ClinVar variants

All ClinVar germline RUNX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 688 flagged for review →

105 Pathogenic · 113 Likely pathogenic · 105 Benign · 481 Likely benign · 930 Uncertain significance

Full RUNX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 688

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 lean, ClinVar uncertain 486

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 486

Predictors split 202

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 202

All RUNX1 variants

Pathogenic 105

  • c.351+1G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.351+1G>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.352-1G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.352-1G>T Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.508+1G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.508+2T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.508+3del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.806-1G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.967+2_967+5del Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Ala134fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala134Pro Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala142fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala142fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala244fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala63fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala65fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala83fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg162Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg166Gln Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg166Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg169fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg201fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg201Gln Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg201Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg204Gln Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg204Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg232fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg233fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg320Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg91fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asn153fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asn260fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asn260Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asn96fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp123fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp198Tyr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp75fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp93fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln185Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln208Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln213fs Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Gln262Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln266Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln268Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln272Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln274Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln283Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Glu138Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Glu227Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Glu80fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Glu88fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly168fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly170fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly87fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.His255fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ile177fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu112fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu144fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu175fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu219fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu47fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu56fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu58fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu98fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Lys110Asn Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Lys110Glu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Lys117Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Phe97fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Pro240fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Pro277fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Pro49fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ser141Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ser167fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ser222fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ser373fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ser53fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ser73fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ser77fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Thr104fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Thr131fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Thr148fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Thr178fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Thr196fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Thr246fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Thr45fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Trp106Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Tyr189Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Tyr287Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Tyr414Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Val130fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Val164fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Val197fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Val238fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Val90fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu89fs Multiple submitters hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Ala149fs Single submitter
  • p.Gln230Ter Single submitter Inborn genetic diseases
  • p.Ile195fs Single submitter Inborn genetic diseases
  • p.Pro294fs Single submitter Inborn genetic diseases
  • p.Pro395fs Single submitter hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Ser322fs Single submitter hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Ser362fs Single submitter hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Tyr189fs Single submitter hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Tyr380Ter Single submitter hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Val132fs Single submitter hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

Likely pathogenic 113

  • c.351+1_351+2dup Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.351+1G>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.351+2T>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.351+2T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.508_508+10del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.508+1G>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.508+1G>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.509-?_613+?del Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.805+1G>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.968-10C>A Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.98-2A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala120fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala134Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala134Val Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala156Glu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala411fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala455fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg107Cys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg107His Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg107Ser Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg162Ala Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg162Lys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg162Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg169Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg169Ile Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Arg204Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg271fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg320fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg334fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg346fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg427fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg471fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg478fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp198Ala Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp198Asn Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp198Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp198Val Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp282fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Cys432fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln185fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln262fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln335Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln392fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln449Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Glu422fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Glu473Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly168Arg Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly168Glu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly168Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly170Arg Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly170Glu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly199Glu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly305fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly363fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.His105Gln Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.His105Pro Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.His404fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.His85fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ile114fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu129fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu321_Ser322insTer Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu339fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu429fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu472fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Lys110Arg Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Lys110Gln Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Lys194Asn Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Lys194Glu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Lys194Ile Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Lys194Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Met267fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Met371fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Pro298fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Pro383fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Pro401fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Pro425fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ser167Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ser167Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ser322Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ser373Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ser388Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ser402fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ser413fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ser424Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ser94Arg Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Thr196Ala Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Thr323fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Thr328_Ala329insTer Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Trp106Arg Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Trp106Cys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Tyr403fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Tyr407fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Tyr407Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg166Leu Multiple submitters RUNX1-related disorder
  • c.508+2T>A Single submitter Inborn genetic diseases
  • c.509-2A>G Single submitter Inborn genetic diseases
  • c.58+2del Single submitter RUNX1-related disorder
  • c.805+6T>G Single submitter Inborn genetic diseases
  • p.Ala409fs Single submitter RUNX1-related disorder
  • p.Gln274fs Single submitter Inborn genetic diseases
  • p.Gly165Asp Single submitter
  • p.Gly387fs Single submitter Congenital thrombocytopenia
  • p.His378fs Single submitter Inborn genetic diseases
  • p.Leu82fs Single submitter
  • p.Lys110Met Single submitter RUNX1-related disorder
  • p.Pro61fs Single submitter
  • p.Pro86fs Single submitter RUNX1-related disorder
  • p.Ser280fs Single submitter RUNX1-related disorder
  • p.Ser314fs Single submitter RUNX1-related disorder
  • p.Thr188fs Single submitter
  • p.Tyr349fs Single submitter RUNX1-related disorder
  • p.Tyr406fs Single submitter
  • p.Gln185fs No assertion criteria hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1

Benign 105

  • c.351+15A>G Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.351+301A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.352-184A>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.508+169G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.508+182A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.508+232A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.508+259C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.508+275T>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.509-281G>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.58+103A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.58+23A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.613+108G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.613+158C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.613+8C>T Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.614-34C>T Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.805+12836A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.805+186C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.968-134A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.968-269G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.98-1411_98-1410del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.98-1418dup Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.98-148_98-147dup Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.98-155dup Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.-135G>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.-59-10C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.-59-1G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.-89T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*1012C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*1096A>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*1138C>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*113C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*121G>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*1466G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*1683_*1684del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*1720C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*1823A>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2005A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2193del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2201dup Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2285A>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2329A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2467dup Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2474T>C Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.*2517TG[8] Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2532G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2533TG[10] Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.*2626A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2642A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*264C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2768A>C Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.*2770C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*27C>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2840A>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2886T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*3060T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*3090A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*3345A>T Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.*3380A>G Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.*3574A>G Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.*3619A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*3721A>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*3977G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*4032T>C Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.*4140C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*4238G>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*4250C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*429T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*44C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*484T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*559T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*569T>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*582del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*613A>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*667del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*683G>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*700dup Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*70T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*730dup Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*88G>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*919A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*940G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala60Val Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg271Lys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln335His Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Gln397Arg Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Glu422Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly309= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly69Arg Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ile114= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ile22Lys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu472Pro Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu56Ser Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Met418Leu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Met466Leu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Pro184= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Pro216= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Pro275Leu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Pro463= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Pro61= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ser318Ala Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ser362= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ser48= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Val101= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Val452Gly Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Ala187= Single submitter

Likely benign 481

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

  • c.351+10C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.351+10C>T Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.351+14G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.351+15A>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.351+19T>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.351+4C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.351+5T>C Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.351+6G>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.351+9C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.352-11C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.352-13G>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.352-141_352-137del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.352-19T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.352-292T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.352-5T>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.352-8G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.508+12G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.508+14C>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.508+14C>G Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.508+18A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
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  • c.508+20T>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
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  • c.508+9T>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.509-10del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.509-10G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.509-10G>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
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  • c.509-15A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
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  • c.509-197T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
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  • c.58+10T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.58+12C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.58+12C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.58+13T>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.58+15G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.58+20G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.58+8C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.58+9A>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.58+9A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.59-10G>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.59-12_59-11del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.59-12C>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.59-12C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.59-16C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.59-17_59-15del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.59-20C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.59-4T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
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  • c.613+14C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.613+15T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.613+16T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.613+18G>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.613+19G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.613+20G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.613+20G>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.613+7G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-11C>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-11C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-12_614-11delinsCT Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-12T>G Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.614-13C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-15_614-9dup Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-15T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-16C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-18C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-18C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-19_614-15del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-20C>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-20C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-20C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-25CTCCC[4] Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-6C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-7A>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
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  • c.614-8C>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.805+12710T>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.805+12723_805+12724del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.805+12A>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.805+13T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.805+14G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.805+16A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.805+18C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.805+19C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.805+8C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.805+9C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.806-11A>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.806-13del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.806-14C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.806-15dup Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.806-15T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.806-19C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.806-20A>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.806-3C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.806-5T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.806-8C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.967+10T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.967+11T>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.967+13A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.967+15A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.967+6C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.967+8A>T Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.968-10C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.968-11C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.968-15T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.968-16C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.968-16C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.968-18C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.968-5T>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.968-7C>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.968-7C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.968-8C>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.968-9G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.968-9G>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.97+10A>C Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.97+10dup Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.97+12T>C Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.97+4T>C Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.97+4T>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.98-21T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.98-30A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.-19G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.-2C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.-59-5C>T Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.-59-9G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.-60+5G>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.-62G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*107G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*1158C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*1360C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*1788A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*195C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*1967G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2201T>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2366G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2376G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2531C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*263C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
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  • c.*267C>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*3021A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*3277G>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*3417A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*3444A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*3527T>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*3580T>G Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.*3582G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*4147C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*4188G>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*436G>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*682dup Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*68G>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*917del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*933T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.364IG[3] Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala120= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala134= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala142= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala156= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala235= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala299= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala307= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala315_Ser318del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala329= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala329Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala338= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala34= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala352= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala374= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala398= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala409= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala411= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala435= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala440= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala46= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala467= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala475= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala55= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala60= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala63= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala65= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala66= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala68= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala83= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg145= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg166= Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Arg204= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg224= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg233= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg233His Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Arg237= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg250= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg250His Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg271= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg320= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg346= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg38= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg39= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg423= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg427= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg471= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg478= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg72= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asn146= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asn182= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asn248= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asn434= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asn461= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asn465= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp160= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp211= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp332= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp332Asn Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp344= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp344Asn Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp4= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp75= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln230= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln266= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln274= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln283= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln286Lys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln392= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln397= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Glu223Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Glu422= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Glu473= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Glu88= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly170= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly199= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly217= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly351= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly363= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly365= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly367= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly372= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly394= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly408= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly412= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly420= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly421= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly457= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly59= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gly74= Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Gly87= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.His255= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.His255Arg Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.His297= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.His32= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.His348= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.His404= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.His85= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.His85Asn Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Ile193= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ile195= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ile364= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ile366= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ile6Met Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Leu102= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu112= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu121= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu144= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu144= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu210= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu219= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu228= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu23= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu253= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu288= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu327= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu339= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu381= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu405= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu429= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu441= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu442= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu446= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu472= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu56= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu58= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu71= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu89= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Leu98= Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Lys171= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Lys209= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Lys215= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Lys70= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Met267Ile Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Met418Val Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Met52Lys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠

Uncertain significance 930

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

  • c.351+3A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.352-12_352-9del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.356_358delTGG Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.494_508+5dup Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.508+10C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.508+5G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.509-11T>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.509-11T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.509-13C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.509-1G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.509-3C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.58+5_58+7del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.58+5G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.59-11T>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.59-43688C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.59-48942A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.59-53465A>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.59-6T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.613+1G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.613+6T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-3_614-2dup Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-3T>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-3T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-5A>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-5A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-7A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.614-9C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.805+1_805+2dup Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.805+4A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.805+5G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.806-16_806-13del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.806-1G>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.806-7T>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.806-8C>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.967+5G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.968-2A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.968-3C>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.968-3C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.97+1G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.97+1G>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.97+6T>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.98-13C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • c.98-17G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.98-1G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • c.98-20_98-18del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.98-3dup Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.98-4G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • c.98-5C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.-132G>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.-67G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*1078A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*1213C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*1293A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*1295G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*134C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*1400G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*1430C>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*1455A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*1938C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2217dup Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2320T>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2347C>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2594_*2597del Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*260C>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2780A>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2822C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*2912A>G Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • c.*3028T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*3138C>G Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*316G>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*3229C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*3281G>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*3297T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*3557C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*3588G>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*3638G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*3642C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*3944G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*4003C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*463C>T Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*467T>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*587T>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*801A>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*821G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*83G>A Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • c.*8G>C Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.364IG[1] Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala115Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala120Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala142Asp Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala147Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala147Val Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala149= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala149Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala150Asp Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala156_Arg157insAla Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala156Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala187Ser Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala187Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala187Val Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala192Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala244Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala244Val Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala258Ser Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala258Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala299Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala2Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala307Val Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala329Val Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala338Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala338Val Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala34Asp Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala34Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala34Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala34Val Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala352Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala370Ser Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala370Val Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala374Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala391= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala391Glu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala391Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala391Pro Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala391Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala398Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala409Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala411_Gly412dup Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala411Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala411Val Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala435Ser Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala440Pro Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala440Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala467Glu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala467Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala46Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala470Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala470Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala470Val Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala475Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala55Glu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala55Val Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala60Pro Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala63Pro Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala63Val Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala65Pro Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala65Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala65Val Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala66Asp Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Ala66Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala68Val Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Ala83Val Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg145Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg145Lys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg157Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg162Ser Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg169= Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg191Lys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg19fs Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg19Lys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg207Gln Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg207Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg207Trp Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg224Gln Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg224Trp Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg232Gln Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg232Trp Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg233Cys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg237Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg250Cys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg250Leu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg29Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg29Lys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg29Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg306Cys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg306His Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ⚠
  • p.Arg306Pro Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg320Gln Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg320Leu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg334_Pro337dup Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg334Cys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg346Cys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg346His Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Arg346Pro Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg376His Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg39Cys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg39His Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg423His Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg423Pro Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg427Cys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg427Leu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg427Pro Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg471His Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg471Leu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Arg76Cys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg76His Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Arg76Pro Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn136Ile Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn136Lys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn139Asp Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn146Ile Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn146Tyr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn159Asp Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn159Lys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn182Lys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn248Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn254Lys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn254Ser Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn260Lys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn260Ser Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn26His Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asn26Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asn434Asp Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn434Ser Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn443Lys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn443Ser Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn448Tyr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn461Asp Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn461Ile Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asn461Ser Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn461Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn96Ser Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asn96Thr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asp123Asn Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asp123Glu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asp123Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asp123His Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ⚠
  • p.Asp126Glu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asp160Gly Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ⚠
  • p.Asp211His Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asp269His Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asp282Asn Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp282His Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asp326Asn Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asp326Glu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asp326Tyr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asp33= Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Asp332Glu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp332Tyr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asp33Asn Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp33Tyr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp344Val Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asp451Glu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asp4Glu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp4Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp62Glu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asp62Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asp75Tyr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asp84Asn Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asp84Glu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Asp84Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asp93Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Asp93Tyr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Cys108Ser Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Cys16fs Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Cys21Arg Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Cys21Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Cys432Arg Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Cys432Ser Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Cys432Tyr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Cys99Tyr Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln154Arg Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln15Arg Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln185Pro Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln208Arg Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ⚠
  • p.Gln208Leu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln213Glu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln230Arg Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln262Arg Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln264Arg Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln264Glu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln264His Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln268Arg Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln274His Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln283Arg Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln283His Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln283Lys Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Gln283Pro Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln286Arg Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln335Arg Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln392Arg Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln392Pro Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln397His Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln415Glu Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln415Pro Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Gln415Ter Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome
  • p.Gln449His Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Glu138Asp Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Glu138Asp Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Glu138Lys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Glu143_Asn146dup Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
  • p.Glu223Lys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Glu229Lys Expert panel hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 ⚠
  • p.Glu316Asp Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Glu316Gln Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Glu316Gly Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Glu316Lys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Glu422Ala Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Glu422Asp Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Glu422Gln Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠
  • p.Glu422Lys Expert panel hereditary thrombocytopenia and hematologic cancer predisposition syndrome ⚠