ClinVar Miner

List of variants reported as likely pathogenic for acute myeloid leukemia by Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia

Included ClinVar conditions (31):

Acquired polycythemia vera; Acute myeloid leukemia; Thrombocythemia 3
Acute leukemia of ambiguous lineage
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
Erythroleukemia, familial, susceptibility to
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; 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 myeloid, reduced survival in, somatic
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
Primary familial polycythemia due to EPO receptor mutation; Acquired polycythemia vera; Budd-Chiari syndrome; Primary myelofibrosis; Acute myeloid leukemia; Thrombocythemia 3
Thrombocythemia 1; Acute myeloid leukemia

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)	rs121917830
NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg)	rs751713049
NM_002227.4(JAK1):c.2347C>T (p.Leu783Phe)	rs1655079234
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	rs121434596
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met)	rs121918467
NM_006265.3(RAD21):c.9C>A (p.Tyr3Ter)	rs758626942
NM_006565.4(CTCF):c.1502_1503dup (p.Tyr502fs)	rs2052291685
NM_006565.4(CTCF):c.1640_1650delinsT (p.Asp547fs)	rs2052320698
NM_014159.7(SETD2):c.1321C>T (p.Arg441Ter)	rs1293916143
NM_014159.7(SETD2):c.3918G>A (p.Trp1306Ter)	rs2043042281
NM_015355.4(SUZ12):c.1150_1151del (p.Leu385fs)	rs1909527513

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