ClinVar Miner

List of variants in gene EPAS1 reported as pathogenic for familial polycythemia

Included ClinVar conditions (18):

Chuvash polycythemia
Chuvash polycythemia; Pheochromocytoma; Von Hippel-Lindau syndrome; Nonpapillary renal cell carcinoma
Chuvash polycythemia; Von Hippel-Lindau syndrome
Dominant beta-thalassemia; Fetal hemoglobin quantitative trait locus 1; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; beta Thalassemia; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; Malaria, susceptibility to; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB
Dominant beta-thalassemia; Heinz body anemia; Hb SS disease; alpha Thalassemia; Malaria, susceptibility to; METHEMOGLOBINEMIA, BETA TYPE; Erythrocytosis, familial, 6; Hereditary persistence of fetal hemoglobin; Beta-thalassemia HBB/LCRB
Erythrocytosis, familial, 3
Erythrocytosis, familial, 3; Hemoglobin, high altitude adaptation
Erythrocytosis, familial, 4
Erythrocytosis, familial, 5
Erythrocytosis, familial, 6
Erythrocytosis, familial, 7
Familial erythrocytosis
Heinz body anemia; alpha Thalassemia; Hemoglobin H disease; Erythrocytosis, familial, 7
Heinz body anemia; alpha Thalassemia; Hemoglobin H disease; Methemoglobinemia, alpha type; Erythrocytosis, familial, 7
Primary familial polycythemia due to EPO receptor mutation
Primary familial polycythemia due to EPO receptor mutation; Acquired polycythemia vera; Budd-Chiari syndrome; Primary myelofibrosis; Acute myeloid leukemia; Thrombocythemia 3
Primary familial polycythemia due to EPO receptor mutation; Thrombocythemia 1; Primary myelofibrosis

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001430.5(EPAS1):c.1603A>G (p.Met535Val)	rs137853037
NM_001430.5(EPAS1):c.1604T>C (p.Met535Thr)	rs2103672173
NM_001430.5(EPAS1):c.1609G>A (p.Gly537Arg)	rs137853036
NM_001430.5(EPAS1):c.1609G>T (p.Gly537Trp)	rs137853036

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