ClinVar Miner

List of variants reported as likely pathogenic for acquired aplastic anemia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (22):

Anemia; Pure red-cell aplasia
Aplastic anemia
Aplastic anemia; Atrial septal defect; Pulmonary arterial hypertension; Hypotelorism; Hemangioma; Hepatomegaly; Abnormal pinna morphology; Downslanted palpebral fissures; Wide anterior fontanel; Low-set, posteriorly rotated ears; Dry skin; Relative macrocephaly; Lateral ventricle dilatation; Intracerebral periventricular calcifications; Aplasia of the ovary; Erythroid hypoplasia; Vaginal hydrocele
Aplastic anemia; Familial hemophagocytic lymphohistiocytosis 2; Lymphoma, non-Hodgkin, familial
Congenital amegakaryocytic thrombocytopenia; Primary myelofibrosis; Thrombocythemia 2
Familial myelofibrosis
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
Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia
Multiple congenital anomalies-hypotonia-seizures syndrome 3; Paroxysmal nocturnal hemoglobinuria 2
Myelofibrosis with myeloid metaplasia
Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2
Paroxysmal nocturnal hemoglobinuria 1; Multiple congenital anomalies-hypotonia-seizures syndrome 2; Neurodevelopmental disorder with epilepsy and hemochromatosis
Paroxysmal nocturnal hemoglobinuria 2
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
Primary myelofibrosis
Primary myelofibrosis; Osteoporosis; Thrombocytopenia
Primary myelofibrosis; Splenomegaly
Shwachman-Diamond syndrome 1; Aplastic anemia
Thrombocythemia 1; Primary myelofibrosis

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_001083116.3(PRF1):c.666C>A (p.His222Gln)	rs751247865	0.00006
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp)	rs139322149	0.00004
NM_005373.3(MPL):c.460T>C (p.Trp154Arg)	rs758428763	0.00002
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)	rs1057516320	0.00001
NM_002485.5(NBN):c.481-2A>T	rs751567476	0.00001
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter)	rs1169744090	0.00001
NM_005373.3(MPL):c.1566-1G>A	rs1570474015	0.00001
NM_005373.3(MPL):c.981-1G>C	rs769297582	0.00001
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter)	rs2129744741
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)	rs764884516
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)	rs766044684
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)	rs762664474
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)	rs750046020
NM_198253.3(TERT):c.336dup (p.Glu113fs)	rs1060502990

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