Total 22 pathogenic variants reported for Acute megakaryoblastic leukemia

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	SNV Germline/somatic	Chr1:114716123	Pathogenic/Likely pathogenic	Juvenile myelomonocytic leukemia Noonan syndrome 6 Autoimmune lymphoproliferative syndrome type 4 Condition: not provided Myelodysplastic syndrome Gastric adenocarcinoma Multiple myeloma Medulloblastoma Neoplasm of the large intestine Acute myeloid leukemia Transitional cell carcinoma of the bladder Malignant melanoma of skin Melanoma Non-Hodgkin lymphoma Acute megakaryoblastic leukemia in down syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123620	rs_121434596	6 SubmittersRCV000014915 RCV000022690 RCV000144962 RCV000157672 RCV000431528 RCV000430350 RCV000433031 RCV000421906 RCV000440593 RCV000440357 RCV000421229 RCV000422699 RCV000431020 RCV000442419 RCV001293767
NM_000314.8(PTEN):c.406T>C (p.Cys136Arg)	SNV Germline/somatic	Chr10:87933165	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Acute megakaryoblastic leukemia Mediastinal germ cell tumor Condition: not provided PTEN hamartoma tumor syndrome Cowden syndrome Neoplasm of ovary Cowden syndrome 1 Glioma susceptibility 2	Criteria Provided Multiple Submitters No Conflicts	CA000151	rs_786201044	12 SubmittersRCV000162428 RCV000202582 RCV000212881 RCV000463307 RCV000587477 RCV000785388 RCV003389317 RCV003462114
NM_000121.4(EPOR):c.1316G>A (p.Trp439Ter)	SNV Germline/somatic	Chr19:11378195	Likely pathogenic	Primary familial polycythemia due to EPO receptor mutation Acute megakaryoblastic leukemia without down syndrome	Criteria Provided Single Submitter	CA10602669	rs_121917830	2 SubmittersRCV000258849 RCV001293750
NM_000215.4(JAK3):c.1715C>T (p.Ala572Val)	SNV Somatic	Chr19:17837200	Likely pathogenic	Acute megakaryoblastic leukemia Myeloproliferative neoplasm	No Assertion Criteria Provided	CA16602504	rs_121913504	1 SubmittersRCV000422353 RCV000439577
NM_000215.4(JAK3):c.1503G>C (p.Gln501His)	SNV Somatic	Chr19:17838329	Likely pathogenic	Acute megakaryoblastic leukemia	No Assertion Criteria Provided	CA16602573	rs_201283129	1 SubmittersRCV000428873
NM_000215.4(JAK3):c.260T>C (p.Ile87Thr)	SNV Somatic	Chr19:17843825	Likely pathogenic	Leukemoid reaction Acute megakaryoblastic leukemia	No Assertion Criteria Provided	CA16602574	rs_1057519770	1 SubmittersRCV000422014 RCV000436092
NM_002049.4(GATA1):c.89C>G (p.Ser30Ter)	SNV Germline/somatic	ChrX:48791198	Pathogenic	Acute megakaryoblastic leukemia in down syndrome GATA binding protein 1 related thrombocytopenia with dyserythropoiesis Diamond-Blackfan anemia	Criteria Provided Multiple Submitters No Conflicts	CA412866876	rs_1557020021	2 SubmittersRCV001293757 RCV002232272
NM_002227.4(JAK1):c.2347C>T (p.Leu783Phe)	SNV Somatic	Chr1:64844120	Likely pathogenic	Acute megakaryoblastic leukemia in down syndrome	Criteria Provided Single Submitter		rs_1655079234	1 SubmittersRCV001293764
NM_014159.7(SETD2):c.3918G>A (p.Trp1306Ter)	SNV Somatic	Chr3:47120718	Likely pathogenic	Acute megakaryoblastic leukemia without down syndrome	Criteria Provided Single Submitter		rs_2043042281	1 SubmittersRCV001293748
NM_014159.7(SETD2):c.1321C>T (p.Arg441Ter)	SNV Somatic	Chr3:47123315	Likely pathogenic	Acute megakaryoblastic leukemia without down syndrome	Criteria Provided Single Submitter		rs_1293916143	1 SubmittersRCV001293749
NM_006265.3(RAD21):c.9C>A (p.Tyr3Ter)	SNV Somatic	Chr8:116866721	Likely pathogenic	Acute megakaryoblastic leukemia in down syndrome	Criteria Provided Single Submitter		rs_758626942	1 SubmittersRCV001293756
NM_001195427.2(SRSF2):c.284C>G (p.Pro95Arg)	SNV Somatic	Chr17:76736877	Likely pathogenic	Acute megakaryoblastic leukemia in down syndrome	Criteria Provided Single Submitter		rs_751713049	1 SubmittersRCV001293765
NM_002049.4(GATA1):c.219A>G (p.Pro73=)	SNV Somatic	ChrX:48791328	Pathogenic	Acute megakaryoblastic leukemia in down syndrome	Criteria Provided Single Submitter		rs_2062674480	1 SubmittersRCV001293766