NM_001754.5(RUNX1):c.222del (p.Asp75fs)Pathogenic
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
★★★☆2025→ Residue 75
NM_001754.5(RUNX1):c.1413_1415delinsG (p.Leu472fs)Likely pathogenic
Inborn genetic diseases|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
★★★☆2025→ Residue 472
NM_001754.5(RUNX1):c.1242C>G (p.Tyr414Ter)Pathogenic
not provided|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome|Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1|Inborn genetic diseases
★★★☆2025→ Residue 414
NM_001754.5(RUNX1):c.260del (p.Gly87fs)Pathogenic
Inborn genetic diseases|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
★★★☆2025→ Residue 87
NM_001754.5(RUNX1):c.485G>C (p.Arg162Thr)Likely pathogenic
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
★★★☆2025→ Residue 162
NM_001754.5(RUNX1):c.524del (p.Leu175fs)Pathogenic
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
★★★☆2025→ Residue 175
NM_001754.5(RUNX1):c.1088_1100del (p.Gly363fs)Likely pathogenic
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
★★★☆2025→ Residue 363
NM_001754.5(RUNX1):c.764_765del (p.His255fs)Pathogenic
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
★★★☆2025→ Residue 255
NM_001754.5(RUNX1):c.588_594del (p.Val197fs)Pathogenic
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
★★★☆2025→ Residue 197
NM_001754.5(RUNX1):c.277dup (p.Asp93fs)Pathogenic
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
★★★☆2025→ Residue 93
NM_001754.5(RUNX1):c.191_192insA (p.Ala65fs)Pathogenic
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
★★★☆2025→ Residue 65
NM_001754.5(RUNX1):c.423_427del (p.Leu144fs)Pathogenic
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
★★★☆2025→ Residue 144
NM_001754.5(RUNX1):c.400_404del (p.Ala134fs)Pathogenic
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
★★★☆2025→ Residue 134
NM_001754.5(RUNX1):c.1117_1132del (p.Ser373fs)Pathogenic
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
★★★☆2025→ Residue 373
NM_001754.5(RUNX1):c.400G>A (p.Ala134Thr)Likely pathogenic
not provided|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
★★★☆2025→ Residue 134
NM_001754.5(RUNX1):c.508_508+10delLikely pathogenic
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
★★★☆2025
NM_001754.5(RUNX1):c.351+1G>CLikely pathogenic
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1|not provided|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
★★★☆2025
NM_001754.5(RUNX1):c.622C>T (p.Gln208Ter)Pathogenic
Storage pool disease of platelets|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
★★★☆2025→ Residue 208
NM_001754.5(RUNX1):c.351+1_351+2dupLikely pathogenic
not provided|Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
★★★☆2025
NM_001754.5(RUNX1):c.967_968insATCAA (p.Thr323fs)Likely pathogenic
Hereditary thrombocytopenia and hematologic cancer predisposition syndrome|not provided
★★★☆2025→ Residue 323