Total 50 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.556C>T (p.Gln186Ter) SNV
Germline		 Chr1:43339435 Pathogenic Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 2
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia 1
Congenital amegakaryocytic thrombocytopenia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123771 rs_121913610

3 SubmittersRCV000015217RCV005025056RCV004558254
NM_005373.3(MPL):c.769C>T (p.Arg257Cys) SNV
Germline		 Chr1:43340042 Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Condition: not provided
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 1
Thrombocythemia 2
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123774 rs_121913611

8 SubmittersRCV000015219RCV001818159RCV001038272RCV004558256RCV005025057
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu) SNV
Germline		 Chr1:43352768 Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 2
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia 1
Congenital amegakaryocytic thrombocytopenia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123777 rs_121913612

4 SubmittersRCV000015220RCV001378786RCV005016267RCV004558257
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) SNV
Germline		 Chr1:43338634 Pathogenic Congenital amegakaryocytic thrombocytopenia
not specified
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Thrombocytopenia
Condition: not provided
Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia 1
Thrombocythemia 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123780 rs_28928907

20 SubmittersRCV000015221RCV000121539RCV000792211RCV000852103RCV001091414RCV004558258RCV005003358
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) SNV
Germline/somatic		 Chr12:111418767 Conflicting classifications of pathogenicity Thrombocythemia 1
Condition: not provided
Hepatoblastoma
Primary myelofibrosis
Hereditary cancer		 Criteria Provided
Conflicting Classifications
 CA129205 rs_202080221

11 SubmittersRCV000023398RCV001529953RCV001843460RCV002466413RCV004700273
NM_005373.3(MPL):c.79+2T>A SNV
Germline		 Chr1:43337929 Pathogenic/Likely pathogenic Condition: not provided
not specified
MPL-related disorder
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Thrombocythemia 2
Congenital amegakaryocytic thrombocytopenia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA163017 rs_146249964

16 SubmittersRCV000254762RCV000122423RCV000778237RCV000801559RCV000851882RCV000586535RCV001330057RCV004786384RCV005003486
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) SNV
Germline		 Chr1:43338646 Pathogenic/Likely pathogenic Condition: not provided
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Thrombocythemia 2
MPL-related disorder
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 1
Thrombocythemia 2
Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA806636 rs_750046020

10 SubmittersRCV000255329RCV000814672RCV001731468RCV004542964RCV002250607RCV003992253RCV005003596
NM_005373.3(MPL):c.127C>T (p.Arg43Ter) SNV
Germline		 Chr1:43338146 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
MPL-related disorder
Thrombocythemia 2
Condition: not provided
Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Thrombocythemia 2
Congenital amegakaryocytic thrombocytopenia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA806582 rs_148434485

11 SubmittersRCV001248333RCV000411190RCV000778238RCV004786674RCV001782878RCV005027466RCV005411420
NM_005373.3(MPL):c.391+5G>C SNV
Germline		 Chr1:43338725 Conflicting classifications of pathogenicity Condition: not provided
not specified
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia 1
Thrombocythemia 2		 Criteria Provided
Conflicting Classifications
 CA806646 rs_752453717

6 SubmittersRCV000414099RCV000825643RCV001042667RCV005018707
NM_005373.3(MPL):c.173C>T (p.Ala58Val) SNV
Germline		 Chr1:43338192 Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 2
Primary myelofibrosis
MPL-related disorder
Thrombocythemia 2
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia 1		 Criteria Provided
Conflicting Classifications
 CA806590 rs_6087

5 SubmittersRCV001272210RCV003153643RCV002481475RCV004735544RCV005398639
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
Primary familial polycythemia due to EPO receptor mutation
Thrombocythemia 1
Primary myelofibrosis
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6789874 rs_148636776

5 SubmittersRCV000760171RCV000760174RCV005010757RCV004792431
NM_005373.3(MPL):c.1774C>T (p.Arg592Ter) SNV
Germline		 Chr1:43352638 Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia 1
Thrombocythemia 2
Congenital amegakaryocytic thrombocytopenia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA807023 rs_755447085

3 SubmittersRCV002536728RCV005021159RCV005358030
NM_005373.3(MPL):c.311T>C (p.Phe104Ser) SNV
Germline		 Chr1:43338640 Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia 1
Thrombocythemia 2
Primary myelofibrosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339973608 rs_1196161699

2 SubmittersRCV000809390RCV005029492
NM_005373.3(MPL):c.981-1G>C SNV
Germline		 Chr1:43346444 Likely pathogenic Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 1
Thrombocythemia 2
Primary myelofibrosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA806807 rs_769297582

4 SubmittersRCV000824356RCV001825676RCV005004456
NM_005373.3(MPL):c.268C>T (p.Arg90Ter) SNV
Germline		 Chr1:43338597 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Condition: not provided
Congenital amegakaryocytic thrombocytopenia 1
Thrombocythemia 2
Primary myelofibrosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA806625 rs_763144679

5 SubmittersRCV001229853RCV001251410RCV004697083RCV005014271
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter) SNV
Germline		 Chr1:43338602 Pathogenic/Likely pathogenic Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
MPL-related disorder
Thrombocythemia 2
Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339973442 rs_759361904

3 SubmittersRCV001381626RCV004545220RCV005023133
NM_005373.3(MPL):c.367C>T (p.Arg123Ter) SNV
Germline		 Chr1:43338696 Pathogenic Congenital amegakaryocytic thrombocytopenia
Condition: not provided
Thrombocythemia 2
Congenital amegakaryocytic thrombocytopenia
Primary myelofibrosis
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339973978 rs_1443655691

4 SubmittersRCV001733392RCV001821972RCV002488495RCV002538718
NM_005373.3(MPL):c.460T>C (p.Trp154Arg) SNV
Germline		 Chr1:43339339 Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Thrombocythemia 2
Congenital amegakaryocytic thrombocytopenia
Primary myelofibrosis
MPL-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA806682 rs_758428763

3 SubmittersRCV002025904RCV002486650RCV004538731
NM_005373.3(MPL):c.1166-1G>C SNV
Germline		 Chr1:43346791 Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Thrombocythemia 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339982353 rs_2153918730

2 SubmittersRCV002048862RCV005017099
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter) SNV
Germline		 Chr1:43348965 Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339986891 rs_1169744090

2 SubmittersRCV001941570RCV002507695
NM_005373.3(MPL):c.407C>A (p.Pro136His) SNV
Germline		 Chr1:43339286 Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Primary myelofibrosis
Thrombocythemia 2
Congenital amegakaryocytic thrombocytopenia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA806671 rs_764904424

2 SubmittersRCV001891969RCV005016728
NM_005373.3(MPL):c.1566-1G>A SNV
Germline		 Chr1:43352215 Likely pathogenic Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339991842 rs_1570474015

2 SubmittersRCV002012532RCV002497985
NM_005373.3(MPL):c.407C>G (p.Pro136Arg) SNV
Germline		 Chr1:43339286 Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 1
Thrombocythemia 2
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339974309 rs_764904424

3 SubmittersRCV003154848RCV004763608RCV005029924
NM_005373.3(MPL):c.1033C>T (p.Gln345Ter) SNV
Germline		 Chr1:43346497 Pathogenic/Likely pathogenic Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Thrombocythemia 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA339981113 rs_2153918515

2 SubmittersRCV003786878RCV005014962
NM_005373.3(MPL):c.1545G>A (p.Trp515Ter) SNV
Germline		 Chr1:43349339 Likely pathogenic Condition: not provided
Congenital amegakaryocytic thrombocytopenia 1
Thrombocythemia 2
Primary myelofibrosis		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004719537RCV005017222
NM_005373.3(MPL):c.690+1G>A SNV
Germline		 Chr1:43339570 Likely pathogenic Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Thrombocythemia 2		 Criteria Provided
Single Submitter

1 SubmittersRCV005016002
NM_005373.3(MPL):c.733G>T (p.Gly245Ter) SNV
Germline		 Chr1:43340006 Likely pathogenic Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Thrombocythemia 2		 Criteria Provided
Single Submitter

1 SubmittersRCV005028776
NM_005373.3(MPL):c.775G>T (p.Glu259Ter) SNV
Germline		 Chr1:43340048 Likely pathogenic Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Thrombocythemia 2		 Criteria Provided
Single Submitter

1 SubmittersRCV005016012
NM_005373.3(MPL):c.981-1G>T SNV
Germline		 Chr1:43346444 Likely pathogenic Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Thrombocythemia 2		 Criteria Provided
Single Submitter

1 SubmittersRCV005016031
NM_005373.3(MPL):c.1653+1G>C SNV
Germline		 Chr1:43352304 Likely pathogenic Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Thrombocythemia 2		 Criteria Provided
Single Submitter

1 SubmittersRCV005016064
NM_005373.3(MPL):c.1654-1G>A SNV
Germline		 Chr1:43352517 Likely pathogenic Congenital amegakaryocytic thrombocytopenia 1
Primary myelofibrosis
Thrombocythemia 2		 Criteria Provided
Single Submitter

1 SubmittersRCV005028816