Total 12 pathogenic variants reported for Primary familial polycythemia due to EPO receptor mutation

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000121.4(EPOR):c.1317G>A (p.Trp439Ter)	SNV Germline	Chr19:11378194	Pathogenic	Primary familial polycythemia due to EPO receptor mutation Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA126700	rs_121918116	4 SubmittersRCV000018065 RCV005647964
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_000121.4(EPOR):c.1310G>A (p.Arg437His)	SNV Germline	Chr19:11378201	Conflicting classifications of pathogenicity	Primary familial polycythemia due to EPO receptor mutation Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA9210532	rs_62638744	6 SubmittersRCV000258848 RCV002059064 RCV005646885
NM_000121.4(EPOR):c.215T>C (p.Val72Ala)	SNV Germline	Chr19:11383133	Conflicting classifications of pathogenicity	Primary familial polycythemia due to EPO receptor mutation Condition: not provided	Criteria Provided Conflicting Classifications	CA9210880	rs_780617943	3 SubmittersRCV000334415 RCV006462447
NM_000121.4(EPOR):c.1139C>T (p.Pro380Leu)	SNV Germline	Chr19:11378372	Conflicting classifications of pathogenicity	Primary familial polycythemia due to EPO receptor mutation Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA9210558	rs_199645071	5 SubmittersRCV000367754 RCV004718518 RCV005646914
NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys)	SNV Germline	Chr12:111447491	Conflicting classifications of pathogenicity	Primary familial polycythemia due to EPO receptor mutation Thrombocythemia 1 Thrombocythemia 1 Primary myelofibrosis Primary familial polycythemia due to EPO receptor mutation Condition: not provided	Criteria Provided Conflicting Classifications	CA6789874	rs_148636776	5 SubmittersRCV000760171 RCV000760174 RCV005010757 RCV004792431
NM_000121.4(EPOR):c.296C>T (p.Ala99Val)	SNV Germline	Chr19:11382061	Conflicting classifications of pathogenicity	Condition: not provided Primary familial polycythemia due to EPO receptor mutation	Criteria Provided Conflicting Classifications	CA9210805	rs_146235694	3 SubmittersRCV000885832 RCV001127635
NM_000121.4(EPOR):c.610G>C (p.Glu204Gln)	SNV Germline	Chr19:11381185	Conflicting classifications of pathogenicity	Primary familial polycythemia due to EPO receptor mutation Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA9210689	rs_776887278	3 SubmittersRCV001125537 RCV002556720 RCV004726894
NM_005475.3(SH2B3):c.1A>G (p.Met1Val)	SNV Germline	Chr12:111418146	Pathogenic	Primary familial polycythemia due to EPO receptor mutation	Criteria Provided Single Submitter	CA6789591	rs_376261237	1 SubmittersRCV002250348
NM_000121.4(EPOR):c.1505C>G (p.Pro502Arg)	SNV Germline	Chr19:11378006	Conflicting classifications of pathogenicity	Condition: not provided Primary familial polycythemia due to EPO receptor mutation	Criteria Provided Conflicting Classifications			3 SubmittersRCV004790746 RCV006451486
NM_000121.4(EPOR):c.1439T>C (p.Leu480Ser)	SNV Germline	Chr19:11378072	Conflicting classifications of pathogenicity	Primary familial polycythemia due to EPO receptor mutation Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005400622 RCV005555247
NM_000121.4(EPOR):c.950G>A (p.Trp317Ter)	SNV Germline	Chr19:11378561	Likely pathogenic	Primary familial polycythemia due to EPO receptor mutation	No Assertion Criteria Provided			1 SubmittersRCV005412104