ClinVar Miner

List of variants in gene RUNX1 reported as likely pathogenic for acute leukemia

Included ClinVar conditions (47):

Acquired polycythemia vera; Acute myeloid leukemia; Thrombocythemia 3
Acute leukemia of ambiguous lineage
Acute lymphoid leukemia
Acute lymphoid leukemia; Acute myeloid leukemia; Encephalopathy, acute, infection-induced, susceptibility to, 9
Acute lymphoid leukemia; Myelodysplastic syndrome; Intellectual disability, autosomal dominant 42
Acute lymphoid leukemia; Thrombocytopenia
Acute megakaryoblastic leukemia
Acute megakaryoblastic leukemia in down syndrome
Acute megakaryoblastic leukemia without down syndrome
Acute megakaryoblastic leukemia; Mediastinal germ cell tumor
Acute monocytic leukemia; Acute monoblastic leukemia
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia
Acute myeloid leukemia with multilineage dysplasia
Acute myeloid leukemia; Deafness-lymphedema-leukemia syndrome; Monocytopenia with susceptibility to infections; Myelodysplastic syndrome
Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9
Acute myeloid leukemia; Myelodysplasia
Acute myeloid leukemia; Sotos syndrome
Acute myeloid leukemia; Tatton-Brown-Rahman overgrowth syndrome
Acute myeloid leukemia; Tatton-Brown-Rahman overgrowth syndrome; Heyn-Sproul-Jackson syndrome
Acute promyelocytic leukemia
B-cell chronic lymphocytic leukemia
Chronic myelogenous leukemia, BCR-ABL1 positive; Acute lymphoid leukemia
Early T cell progenitor acute lymphoblastic leukemia
Erythroleukemia, familial, susceptibility to
Erythroleukemia, familial, susceptibility to; Lethal congenital contracture syndrome 2; Visceral neuropathy, familial, 1, autosomal recessive
Familial cancer of breast; Hereditary diffuse gastric adenocarcinoma; Lung carcinoma; Noonan syndrome 3; Linear nevus sebaceous syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Familial pancreatic carcinoma; Gastric cancer; Lung cancer
Familial cancer of breast; Noonan syndrome 3; Linear nevus sebaceous syndrome; Toriello-Lacassie-Droste syndrome; Cerebral arteriovenous malformation; Malignant tumor of urinary bladder; Carcinoma of pancreas; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2; Gastric cancer; Lung cancer
Gastrointestinal stromal tumor; Mastocytosis; Piebaldism; Malignant tumor of testis; Acute myeloid leukemia
Gastrointestinal stromal tumor; Piebaldism; Acute myeloid leukemia; Cutaneous mastocytosis; Germ cell tumor of testis
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1; Acute myeloid leukemia
Inherited acute myeloid leukemia
Interstitial lung disease 2; Aplastic anemia; Dyskeratosis congenita, autosomal dominant 1; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9
Leukemia, acute lymphocytic, susceptibility to, 2
Leukemia, acute myeloid, reduced survival in, somatic
Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia
Mixed phenotype acute leukemia with t(v;11q23.3)
Noonan syndrome 3; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Noonan syndrome 3; Linear nevus sebaceous syndrome; Autoimmune lymphoproliferative syndrome type 4; Acute myeloid leukemia; Cardiofaciocutaneous syndrome 2
Pectus excavatum; Acute myeloid leukemia; Short stature; Cognitive impairment; Webbed neck; Pancytopenia; Abnormality of the tongue
Precursor B-cell acute lymphoblastic leukemia
Precursor B-cell acute lymphoblastic leukemia; Myeloproliferative disorder; Eosinophilia
Primary familial polycythemia due to EPO receptor mutation; Acquired polycythemia vera; Budd-Chiari syndrome; Primary myelofibrosis; Acute myeloid leukemia; Thrombocythemia 3
T-cell acute lymphoblastic leukemia
T-cell prolymphocytic leukemia
Thrombocythemia 1; Acute myeloid leukemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser)	rs111527738	0.01206
NM_001754.5(RUNX1):c.1219_1221delinsGGGATCGTTCGGA (p.Tyr407fs)	rs2145875208
NM_001754.5(RUNX1):c.164C>A (p.Ala55Glu)	rs1473182680
NM_001754.5(RUNX1):c.292del (p.Leu98fs)	rs1569084170
NM_001754.5(RUNX1):c.422C>A (p.Ser141Ter)
NM_001754.5(RUNX1):c.500_502delinsTT (p.Ser167fs)
NM_001754.5(RUNX1):c.508+2T>C	rs1601515707
NM_001754.5(RUNX1):c.777_778dup (p.Asn260fs)
Single allele

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