ClinVar Miner

List of variants in gene ERBB3 studied for acute myeloid leukemia

Included ClinVar conditions (35):

Acquired polycythemia vera; Acute myeloid leukemia; Thrombocythemia 3
Acute leukemia of ambiguous lineage
Acute lymphoid leukemia; Acute myeloid leukemia; Encephalopathy, acute, infection-induced, susceptibility to, 9
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 myeloid leukemia; Thrombocytopenia 5
Acute promyelocytic 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 myeloid, reduced survival in, somatic
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
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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 6

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001982.4(ERBB3):c.89C>T (p.Pro30Leu)	rs56017157	0.00237
NM_001982.4(ERBB3):c.2993A>G (p.Lys998Arg)	rs56259600	0.00047
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr)	rs755855285	0.00013
NM_001982.4(ERBB3):c.237G>A (p.Trp79Ter)
NM_001982.4(ERBB3):c.3223del (p.Ser1075fs)
NM_001982.4(ERBB3):c.83-2A>G

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