Total 16 pathogenic variants reported for Primary myelofibrosis

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)	SNV Germline	Chr1:43338634	Pathogenic	Congenital amegakaryocytic thrombocytopenia Thrombocytopenia not specified Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Condition: not provided Primary myelofibrosis Congenital amegakaryocytic thrombocytopenia Thrombocythemia 2 Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts	CA123780	rs_28928907	17 SubmittersRCV000015221 RCV000852103 RCV000121539 RCV000792211 RCV001091414 RCV002490372 RCV004558258
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)	SNV Germline/somatic	Chr12:111418767	Conflicting classifications of pathogenicity	Thrombocythemia 1 Hereditary cancer Primary myelofibrosis Condition: not provided Hepatoblastoma	Criteria Provided Conflicting Classifications	CA129205	rs_202080221	11 SubmittersRCV000023398 RCV004700273 RCV002466413 RCV001529953 RCV001843460
NM_005373.3(MPL):c.79+2T>A	SNV Germline	Chr1:43337929	Pathogenic/Likely pathogenic	Thrombocytopenia not specified Condition: not provided Congenital amegakaryocytic thrombocytopenia Primary myelofibrosis Congenital amegakaryocytic thrombocytopenia 1 Primary myelofibrosis Congenital amegakaryocytic thrombocytopenia Thrombocythemia 2 MPL-related disorder Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Multiple Submitters No Conflicts	CA163017	rs_146249964	16 SubmittersRCV000851882 RCV000122423 RCV000254762 RCV000586535 RCV001330057 RCV004786384 RCV000763338 RCV000778237 RCV000801559
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)	SNV Germline	Chr1:43338646	Pathogenic/Likely pathogenic	Condition: not provided Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia Primary myelofibrosis Thrombocythemia 2 Thrombocythemia 2 MPL-related disorder Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts	CA806636	rs_750046020	10 SubmittersRCV000255329 RCV000814672 RCV002250607 RCV002479991 RCV001731468 RCV004542964 RCV003992253
NM_005373.3(MPL):c.173C>T (p.Ala58Val)	SNV Germline	Chr1:43338192	Conflicting classifications of pathogenicity	Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia Primary myelofibrosis Thrombocythemia 2 Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia MPL-related disorder	Criteria Provided Conflicting Classifications	CA806590	rs_6087	4 SubmittersRCV001272210 RCV002481475 RCV003153643 RCV004735544
NM_005373.3(MPL):c.981-1G>C	SNV Germline	Chr1:43346444	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Primary myelofibrosis Congenital amegakaryocytic thrombocytopenia Thrombocythemia 2	Criteria Provided Multiple Submitters No Conflicts		rs_769297582	4 SubmittersRCV000824356 RCV001825676 RCV002478934
NM_005373.3(MPL):c.367C>T (p.Arg123Ter)	SNV Germline	Chr1:43338696	Pathogenic	Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia Thrombocythemia 2 Primary myelofibrosis Condition: not provided Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Multiple Submitters No Conflicts		rs_1443655691	4 SubmittersRCV001733392 RCV002488495 RCV001821972 RCV002538718
NM_005373.3(MPL):c.460T>C (p.Trp154Arg)	SNV Germline	Chr1:43339339	Pathogenic/Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Thrombocythemia 2 Primary myelofibrosis Congenital amegakaryocytic thrombocytopenia MPL-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_758428763	3 SubmittersRCV002025904 RCV002486650 RCV004538731
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter)	SNV Germline	Chr1:43348965	Pathogenic/Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Primary myelofibrosis Congenital amegakaryocytic thrombocytopenia Thrombocythemia 2	Criteria Provided Multiple Submitters No Conflicts		rs_1169744090	2 SubmittersRCV001941570 RCV002507695
NM_005373.3(MPL):c.1566-1G>A	SNV Germline	Chr1:43352215	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Primary myelofibrosis Thrombocythemia 2	Criteria Provided Multiple Submitters No Conflicts		rs_1570474015	2 SubmittersRCV002012532 RCV002497985