Total 192 pathogenic variants reported for Congenital amegakaryocytic thrombocytopenia 
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
Congenital amegakaryocytic thrombocytopenia 1		 Criteria Provided
Single Submitter
 CA123771 rs_121913610

2 SubmittersRCV000015217RCV004558254
NM_005373.3(MPL):c.769C>T (p.Arg257Cys) SNV
Germline		 Chr1:43340042 Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Condition: not provided
Congenital amegakaryocytic thrombocytopenia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA123774 rs_121913611

6 SubmittersRCV000015219RCV001038272RCV001818159RCV004558256
NM_005373.3(MPL):c.1904C>T (p.Pro635Leu) SNV
Germline		 Chr1:43352768 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 1		 Criteria Provided
Single Submitter
 CA123777 rs_121913612

3 SubmittersRCV000015220RCV001378786RCV004558257
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 SubmittersRCV000015221RCV000852103RCV000121539RCV000792211RCV001091414RCV002490372RCV004558258
NM_005373.3(MPL):c.1473G>A (p.Trp491Ter) SNV
Germline		 Chr1:43349267 Pathogenic Congenital amegakaryocytic thrombocytopenia 1 No Assertion Criteria Provided
 CA123782 rs_121913613

1 SubmittersRCV004558259
NM_005373.3(MPL):c.1566-1G>T SNV
Germline		 Chr1:43352215 Pathogenic Congenital amegakaryocytic thrombocytopenia 1 No Assertion Criteria Provided
 rs_1570474015

1 SubmittersRCV004558260
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu) SNV
Germline/somatic		 Chr1:43349338 Conflicting classifications of pathogenicity Myelofibrosis with myeloid metaplasia
Thrombocythemia 2, somatic
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia		 Criteria Provided
Conflicting Classifications
 CA123792 rs_121913615

3 SubmittersRCV000015227RCV000022668RCV000501989RCV001361128
NM_005373.3(MPL):c.1621C>T (p.Gln541Ter) SNV
Germline		 Chr1:43352271 Pathogenic not specified
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
MPL-related disorder		 Criteria Provided
Single Submitter
 CA160807 rs_369156948

3 SubmittersRCV000121532RCV001854660RCV004734658
NM_005373.3(MPL):c.209C>T (p.Pro70Leu) SNV
Germline		 Chr1:43338228 Conflicting classifications of pathogenicity not specified
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Conflicting Classifications
 CA160813 rs_61754776

5 SubmittersRCV000121534RCV000666995RCV002517599
NM_005373.3(MPL):c.655C>G (p.Gln219Glu) SNV
Germline		 Chr1:43339534 Conflicting classifications of pathogenicity not specified
Congenital amegakaryocytic thrombocytopenia
Condition: not provided
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
MPL-related disorder		 Criteria Provided
Conflicting Classifications
 CA160831 rs_142737453

7 SubmittersRCV000121544RCV000665815RCV003407517RCV000796648RCV004734659
NM_005373.3(MPL):c.793C>T (p.Leu265Phe) SNV
Germline		 Chr1:43340066 Conflicting classifications of pathogenicity not specified
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA160838 rs_117656396

6 SubmittersRCV000121547RCV000665912RCV000863056RCV004791272
NM_005373.3(MPL):c.754T>C (p.Tyr252His) SNV
Germline		 Chr1:43340027 Conflicting classifications of pathogenicity not specified
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia		 Criteria Provided
Conflicting Classifications
 CA160844 rs_141311765

6 SubmittersRCV000121549RCV000860830RCV000778239
NM_005373.3(MPL):c.1063A>G (p.Lys355Glu) SNV
Germline		 Chr1:43346527 Conflicting classifications of pathogenicity not specified
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Abnormal bleeding
Thrombocytopenia
MPL-related disorder		 Criteria Provided
Conflicting Classifications
 CA160853 rs_546510242

7 SubmittersRCV000121552RCV000670806RCV000867193RCV001270539RCV004542901
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) SNV
Germline		 Chr1:43346566 Conflicting classifications of pathogenicity not specified
Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA160859 rs_149810307

9 SubmittersRCV000121554RCV000315154RCV000400513RCV001246816RCV001358413
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 SubmittersRCV000851882RCV000122423RCV000254762RCV000586535RCV001330057RCV004786384RCV000763338RCV000778237RCV000801559
NM_005373.3(MPL):c.1565+5C>T SNV
Germline		 Chr1:43349364 Conflicting classifications of pathogenicity not specified
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 1
Condition: not provided
MPL-related disorder		 Criteria Provided
Conflicting Classifications
 CA163018 rs_41269541

12 SubmittersRCV000122424RCV000232182RCV000337044RCV000282111RCV001689671RCV004528839
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 SubmittersRCV000255329RCV000814672RCV002250607RCV002479991RCV001731468RCV004542964RCV003992253
NM_005373.3(MPL):c.196C>T (p.Leu66=) SNV
Germline		 Chr1:43338215 Conflicting classifications of pathogenicity Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Conflicting Classifications
 CA10609987 rs_886046349

2 SubmittersRCV000301346RCV000356128RCV002059483
NM_005373.3(MPL):c.854-3T>C SNV
Germline		 Chr1:43340384 Conflicting classifications of pathogenicity Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia		 Criteria Provided
Conflicting Classifications
 CA806767 rs_201514537

1 SubmittersRCV000288318RCV000343418
NM_005373.3(MPL):c.1003G>A (p.Glu335Lys) SNV
Germline		 Chr1:43346467 Conflicting classifications of pathogenicity Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Condition: not provided
MPL-related disorder		 Criteria Provided
Conflicting Classifications
 CA806813 rs_139770726

4 SubmittersRCV000339711RCV000394158RCV002522129RCV003129824RCV004537670
NM_005373.3(MPL):c.1654-10T>A SNV
Germline		 Chr1:43352508 Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA807005 rs_200460456

8 SubmittersRCV000309183RCV000390481RCV000464665RCV001356726RCV001820856
NM_005373.3(MPL):c.*1674A>T SNV
Germline		 Chr1:43354446 Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 1		 Criteria Provided
Conflicting Classifications
 CA10610313 rs_536844021

1 SubmittersRCV000294666RCV000351856
NM_005373.3(MPL):c.690+11C>T SNV
Germline		 Chr1:43339580 Conflicting classifications of pathogenicity Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Conflicting Classifications
 CA806718 rs_144769485

2 SubmittersRCV000328339RCV000382787RCV002059484
NM_005373.3(MPL):c.1467C>T (p.Thr489=) SNV
Germline		 Chr1:43349001 Conflicting classifications of pathogenicity Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia
Condition: not provided
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
MPL-related disorder		 Criteria Provided
Conflicting Classifications
 CA806900 rs_759161511

5 SubmittersRCV000376584RCV000321411RCV003409452RCV000863244RCV004537672
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp) SNV
Germline		 Chr1:43352259 Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia
not specified
Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA806970 rs_148784027

4 SubmittersRCV000352022RCV003114469RCV000397980RCV001245598RCV003409454
NM_005373.3(MPL):c.1666G>T (p.Val556Phe) SNV
Germline		 Chr1:43352530 Conflicting classifications of pathogenicity Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia		 Criteria Provided
Conflicting Classifications
 CA807008 rs_150004498

3 SubmittersRCV000269486RCV000363866RCV001850560
NM_005373.3(MPL):c.*400C>T SNV
Germline		 Chr1:43353172 Conflicting classifications of pathogenicity Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia		 Criteria Provided
Conflicting Classifications
 CA10611257 rs_558390922

1 SubmittersRCV000294560RCV000351766
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		 Criteria Provided
Multiple Submitters
No Conflicts
 CA806582 rs_148434485

9 SubmittersRCV000411190RCV001248333RCV000778238RCV004786674RCV001782878
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		 Criteria Provided
Conflicting Classifications
 CA806646 rs_752453717

5 SubmittersRCV000414099RCV000825643RCV001042667
NM_005373.3(MPL):c.1468+2T>C SNV
Germline		 Chr1:43349004 Pathogenic/Likely pathogenic Condition: not provided
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042320 rs_1057517761

2 SubmittersRCV000412964RCV002524635
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 SubmittersRCV001272210RCV002481475RCV003153643RCV004735544
NM_005373.3(MPL):c.1303T>A (p.Trp435Arg) SNV
Germline		 Chr1:43346929 Likely pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter
 CA339983781 rs_1553128241

1 SubmittersRCV000501453
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg) SNV
Germline		 Chr1:43348870 Conflicting classifications of pathogenicity not specified
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
MPL-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA806882 rs_561818288

5 SubmittersRCV000499546RCV001326177RCV001829428RCV004541563RCV004691242
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter) SNV
Germline		 Chr1:43348956 Conflicting classifications of pathogenicity MPL-related disorder
Condition: not provided
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia		 Criteria Provided
Conflicting Classifications
 rs_754859909

5 SubmittersRCV000778241RCV001816834RCV001055113RCV004800580
NM_005373.3(MPL):c.1774C>T (p.Arg592Ter) SNV
Germline		 Chr1:43352638 Conflicting classifications of pathogenicity MPL-related disorder
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Conflicting Classifications
 rs_755447085

2 SubmittersRCV000778242RCV002536728
NM_005373.3(MPL):c.304C>T (p.Arg102Cys) SNV
Germline		 Chr1:43338633 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 1		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_763568293

4 SubmittersRCV000798314RCV001272212RCV004789195
NM_005373.3(MPL):c.311T>C (p.Phe104Ser) SNV
Germline		 Chr1:43338640 Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter
 rs_1196161699

1 SubmittersRCV000809390
NM_005373.3(MPL):c.1069C>T (p.Arg357Ter) SNV
Germline		 Chr1:43346533 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_751975712

2 SubmittersRCV000818204RCV001420932
NM_005373.3(MPL):c.1194G>A (p.Trp398Ter) SNV
Germline		 Chr1:43346820 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter
 rs_1570470199

1 SubmittersRCV000818119
NM_005373.3(MPL):c.1462G>T (p.Glu488Ter) SNV
Germline		 Chr1:43348996 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter
 rs_1302209849

1 SubmittersRCV000813136
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 SubmittersRCV000824356RCV001825676RCV002478934
NM_005373.3(MPL):c.273C>T (p.Tyr91=) SNV
Germline		 Chr1:43338602 Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_759361904

3 SubmittersRCV000868773RCV001272211RCV003442127
NM_005373.3(MPL):c.269G>A (p.Arg90Gln) SNV
Unknown		 Chr1:43338598 Likely pathogenic Congenital amegakaryocytic thrombocytopenia No Assertion Criteria Provided
 rs_766638870

1 SubmittersRCV001003894
NM_005373.3(MPL):c.391G>A (p.Gly131Ser) SNV
Unknown		 Chr1:43338720 Likely pathogenic Congenital amegakaryocytic thrombocytopenia No Assertion Criteria Provided
 rs_775250202

1 SubmittersRCV001003895
NM_005373.3(MPL):c.1247G>A (p.Trp416Ter) SNV
Germline		 Chr1:43346873 Pathogenic Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia		 Criteria Provided
Single Submitter
 rs_1647059649

1 SubmittersRCV001061249
NM_005373.3(MPL):c.1165+1G>C SNV
Germline		 Chr1:43346630 Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter
 rs_775550081

1 SubmittersRCV001035124
NM_005373.3(MPL):c.1527C>A (p.Gly509=) SNV
Germline		 Chr1:43349321 Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Conflicting Classifications
 rs_1570472144

2 SubmittersRCV001102306RCV003769073
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter) SNV
Germline		 Chr1:43338208 Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Condition: not provided
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1373623383

3 SubmittersRCV001174802RCV001819878RCV003769858
NM_005373.3(MPL):c.1270C>T (p.Gln424Ter) SNV
Germline		 Chr1:43346896 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter
 rs_1647060064

1 SubmittersRCV001220159
NM_005373.3(MPL):c.1348G>T (p.Glu450Ter) SNV
Germline		 Chr1:43348882 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter
 rs_1647073222

1 SubmittersRCV001219121
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		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_763144679

4 SubmittersRCV001229853RCV001251410RCV004697083
NM_005373.3(MPL):c.98C>A (p.Ser33Ter) SNV
Unknown		 Chr1:43338117 Likely pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter
 rs_1228227826

1 SubmittersRCV001263971
NM_005373.3(MPL):c.214G>T (p.Glu72Ter) SNV
Germline		 Chr1:43338543 Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1406715863

2 SubmittersRCV001263972RCV001383285
NM_005373.3(MPL):c.244C>T (p.Gln82Ter) SNV
Unknown		 Chr1:43338573 Likely pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter
 rs_1647009785

1 SubmittersRCV001263973
NM_005373.3(MPL):c.280C>T (p.Gln94Ter) SNV
Unknown		 Chr1:43338609 Likely pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter
 rs_1647010155

1 SubmittersRCV001263974
NM_005373.3(MPL):c.461G>A (p.Trp154Ter) SNV
Unknown		 Chr1:43339340 Likely pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter
 rs_1647014537

1 SubmittersRCV001263975
NM_005373.3(MPL):c.695C>A (p.Ser232Ter) SNV
Unknown		 Chr1:43339968 Likely pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter
 rs_1647019292

1 SubmittersRCV001263976
NM_005373.3(MPL):c.756C>A (p.Tyr252Ter) SNV
Unknown		 Chr1:43340029 Likely pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter
 rs_1647019645

1 SubmittersRCV001263977
NM_005373.3(MPL):c.758G>A (p.Trp253Ter) SNV
Unknown		 Chr1:43340031 Likely pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter
 rs_1647019692

1 SubmittersRCV001264136
NM_005373.3(MPL):c.763C>T (p.Gln255Ter) SNV
Unknown		 Chr1:43340036 Likely pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter
 rs_771519257

1 SubmittersRCV001264137
NM_005373.3(MPL):c.807G>A (p.Trp269Ter) SNV
Germline		 Chr1:43340080 Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1647020318

2 SubmittersRCV001264138RCV003770375
NM_005373.3(MPL):c.815G>A (p.Trp272Ter) SNV
Unknown		 Chr1:43340088 Likely pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter
 rs_760059307

1 SubmittersRCV001264139
NM_005373.3(MPL):c.1003G>T (p.Glu335Ter) SNV
Unknown		 Chr1:43346467 Likely pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter
 rs_139770726

1 SubmittersRCV001264140
NM_005373.3(MPL):c.305G>A (p.Arg102His) SNV
Germline		 Chr1:43338634 Likely pathogenic Thrombocytopenia
Abnormal bleeding
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter
 rs_28928907

2 SubmittersRCV001270587RCV001880205
NM_005373.3(MPL):c.712G>T (p.Gly238Cys) SNV
Germline		 Chr1:43339985 Conflicting classifications of pathogenicity Thrombocytopenia
Abnormal bleeding
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia 1		 Criteria Provided
Conflicting Classifications
 rs_144210383

3 SubmittersRCV001270506RCV002537729RCV004789508
NM_005373.3(MPL):c.1309-1G>T SNV
Germline		 Chr1:43348842 Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia		 Criteria Provided
Single Submitter
 rs_1243113655

2 SubmittersRCV001377235RCV001831336
NM_005373.3(MPL):c.1469-1G>T SNV
Germline		 Chr1:43349262 Likely pathogenic Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia		 Criteria Provided
Single Submitter
 rs_771729218

1 SubmittersRCV001378787
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter) SNV
Germline		 Chr1:43338602 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
MPL-related disorder		 Criteria Provided
Single Submitter
 rs_759361904

2 SubmittersRCV001381626RCV004545220
NM_005373.3(MPL):c.1042C>T (p.Gln348Ter) SNV
Germline		 Chr1:43346506 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter
 rs_1355966040

1 SubmittersRCV001384719
NM_005373.3(MPL):c.1276C>T (p.Arg426Ter) SNV
Germline		 Chr1:43346902 Pathogenic Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia		 Criteria Provided
Single Submitter
 rs_753018650

1 SubmittersRCV001380246
NM_005373.3(MPL):c.1563C>A (p.Tyr521Ter) SNV
Germline		 Chr1:43349357 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter
 rs_1392072769

1 SubmittersRCV001385395
NM_005373.3(MPL):c.1488C>T (p.Thr496=) SNV
Germline		 Chr1:43349282 Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Condition: not provided
MPL-related disorder		 Criteria Provided
Conflicting Classifications
 rs_140091584

4 SubmittersRCV001391694RCV001836393RCV003132494RCV004545225
NM_005373.3(MPL):c.1566-7C>T SNV
Germline		 Chr1:43352209 Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_375344403

2 SubmittersRCV001433551RCV003405660
NM_005373.3(MPL):c.1359G>A (p.Pro453=) SNV
Germline		 Chr1:43348893 Conflicting classifications of pathogenicity Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
not specified		 Criteria Provided
Conflicting Classifications
 rs_1262936822

2 SubmittersRCV001469287RCV001820162
NM_005373.3(MPL):c.1670C>A (p.Ser557Ter) SNV
Germline		 Chr1:43352534 Pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter
 rs_2153920030

1 SubmittersRCV001638192
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 SubmittersRCV001733392RCV002488495RCV001821972RCV002538718
NM_005373.3(MPL):c.1468+1G>C SNV
Germline		 Chr1:43349003 Pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter
 rs_2153919319

1 SubmittersRCV001775450
NM_005373.3(MPL):c.212+1G>A SNV
Germline		 Chr1:43338232 Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 rs_142565191

2 SubmittersRCV001885187RCV003325580
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 SubmittersRCV002025904RCV002486650RCV004538731
NM_005373.3(MPL):c.1248G>A (p.Trp416Ter) SNV
Germline		 Chr1:43346874 Pathogenic Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia		 Criteria Provided
Single Submitter
 rs_2153918792

1 SubmittersRCV002002121
NM_005373.3(MPL):c.1166-1G>C SNV
Germline		 Chr1:43346791 Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter
 rs_2153918730

1 SubmittersRCV002048862
NM_005373.3(MPL):c.1378C>T (p.Gln460Ter) SNV
Germline		 Chr1:43348912 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter
 rs_1469739934

1 SubmittersRCV001969972
NM_005373.3(MPL):c.1219G>T (p.Glu407Ter) SNV
Germline		 Chr1:43346845 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter
 rs_2153918764

1 SubmittersRCV001970102
NM_005373.3(MPL):c.1546C>T (p.Gln516Ter) SNV
Germline		 Chr1:43349340 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter
 rs_2153919438

1 SubmittersRCV001972624
NM_005373.3(MPL):c.189C>G (p.Tyr63Ter) SNV
Germline		 Chr1:43338208 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter
 rs_1373623383

1 SubmittersRCV001953845
NM_005373.3(MPL):c.980+2T>A SNV
Germline		 Chr1:43340515 Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter
 rs_1647023010

1 SubmittersRCV002045066
NM_005373.3(MPL):c.190C>T (p.Gln64Ter) SNV
Germline		 Chr1:43338209 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter
 rs_2153916273

1 SubmittersRCV002002275
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 SubmittersRCV001941570RCV002507695
NM_005373.3(MPL):c.407C>A (p.Pro136His) SNV
Germline		 Chr1:43339286 Likely pathogenic Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia		 Criteria Provided
Single Submitter
 rs_764904424

1 SubmittersRCV001891969
NM_005373.3(MPL):c.478G>T (p.Glu160Ter) SNV
Germline		 Chr1:43339357 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter
 rs_768536266

1 SubmittersRCV001923431
NM_005373.3(MPL):c.690+2T>A SNV
Germline		 Chr1:43339571 Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter
 rs_2153916885

1 SubmittersRCV002003697
NM_005373.3(MPL):c.79+1G>T SNV
Germline		 Chr1:43337928 Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter
 rs_1647004958

1 SubmittersRCV001980621
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 SubmittersRCV002012532RCV002497985
NM_005373.3(MPL):c.579C>A (p.Cys193Ter) SNV
Unknown		 Chr1:43339458 Likely pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter

1 SubmittersRCV002308069
NM_005373.3(MPL):c.973A>T (p.Arg325Ter) SNV
Unknown		 Chr1:43340506 Likely pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter

1 SubmittersRCV002309142
NM_005373.3(MPL):c.992G>A (p.Trp331Ter) SNV
Unknown		 Chr1:43346456 Likely pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter

1 SubmittersRCV002309307
NM_005373.3(MPL):c.292C>T (p.Gln98Ter) SNV
Unknown		 Chr1:43338621 Likely pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter

1 SubmittersRCV002307031
NM_005373.3(MPL):c.731C>A (p.Ser244Ter) SNV
Unknown		 Chr1:43340004 Likely pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter

1 SubmittersRCV002310155
NM_005373.3(MPL):c.155G>A (p.Trp52Ter) SNV
Unknown		 Chr1:43338174 Likely pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter

1 SubmittersRCV002308412
NM_005373.3(MPL):c.1684G>T (p.Glu562Ter) SNV
Germline		 Chr1:43352548 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter

1 SubmittersRCV002591686
NM_005373.3(MPL):c.57C>A (p.Asn19Lys) SNV
Germline		 Chr1:43337905 Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002852457RCV002875591
NM_005373.3(MPL):c.1305G>C (p.Trp435Cys) SNV
Germline		 Chr1:43346931 Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002913014RCV003491161
NM_005373.3(MPL):c.1469-2A>T SNV
Germline		 Chr1:43349261 Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter

1 SubmittersRCV002957836
NM_005373.3(MPL):c.948C>A (p.Tyr316Ter) SNV
Germline		 Chr1:43340481 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter

1 SubmittersRCV003040348
NM_005373.3(MPL):c.873C>A (p.Cys291Ter) SNV
Germline		 Chr1:43340406 Pathogenic Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia		 Criteria Provided
Single Submitter

1 SubmittersRCV003044735
NM_005373.3(MPL):c.1653+2T>C SNV
Germline		 Chr1:43352305 Likely pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter

1 SubmittersRCV003155868
NM_005373.3(MPL):c.205T>C (p.Tyr69His) SNV
Germline		 Chr1:43338224 Pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter

1 SubmittersRCV003154843
NM_005373.3(MPL):c.1589C>T (p.Pro530Leu) SNV
Germline		 Chr1:43352239 Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 1		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003154845RCV004771539
NM_005373.3(MPL):c.761T>C (p.Leu254Pro) SNV
Germline		 Chr1:43340034 Likely pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter

1 SubmittersRCV003154846
NM_005373.3(MPL):c.1277G>C (p.Arg426Pro) SNV
Germline		 Chr1:43346903 Pathogenic Congenital amegakaryocytic thrombocytopenia Criteria Provided
Single Submitter

1 SubmittersRCV003154847
NM_005373.3(MPL):c.407C>G (p.Pro136Arg) SNV
Germline		 Chr1:43339286 Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003154848RCV004763608
NM_005373.3(MPL):c.1308+2T>G SNV
Germline		 Chr1:43346936 Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter

1 SubmittersRCV003785614
NM_005373.3(MPL):c.1430G>A (p.Trp477Ter) SNV
Germline		 Chr1:43348964 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter

1 SubmittersRCV003786065
NM_005373.3(MPL):c.690+2T>C SNV
Germline		 Chr1:43339571 Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter

1 SubmittersRCV003793504
NM_005373.3(MPL):c.213-1G>A SNV
Germline		 Chr1:43338541 Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter

1 SubmittersRCV003780945
NM_005373.3(MPL):c.1033C>T (p.Gln345Ter) SNV
Germline		 Chr1:43346497 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter

1 SubmittersRCV003786878
NM_005373.3(MPL):c.79+1G>A SNV
Germline		 Chr1:43337928 Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter

1 SubmittersRCV003807894
NM_005373.3(MPL):c.1468+1G>A SNV
Germline		 Chr1:43349003 Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter

1 SubmittersRCV003791499
NM_005373.3(MPL):c.11G>A (p.Trp4Ter) SNV
Germline		 Chr1:43337859 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter

1 SubmittersRCV003799488
NM_005373.3(MPL):c.89T>A (p.Leu30Ter) SNV
Germline		 Chr1:43338108 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter

1 SubmittersRCV003803808
NM_005373.3(MPL):c.582C>A (p.Cys194Ter) SNV
Germline		 Chr1:43339461 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter

1 SubmittersRCV003796758
NM_005373.3(MPL):c.1231C>T (p.Gln411Ter) SNV
Germline		 Chr1:43346857 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter

1 SubmittersRCV003796998
NM_005373.3(MPL):c.709G>T (p.Glu237Ter) SNV
Germline		 Chr1:43339982 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter

1 SubmittersRCV003800457
NM_005373.3(MPL):c.1015A>T (p.Lys339Ter) SNV
Germline		 Chr1:43346479 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter

1 SubmittersRCV003801902
NM_005373.3(MPL):c.854-1G>A SNV
Germline		 Chr1:43340386 Likely pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter

1 SubmittersRCV003813549
NM_005373.3(MPL):c.916C>T (p.Gln306Ter) SNV
Germline		 Chr1:43340449 Pathogenic Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia		 Criteria Provided
Single Submitter

1 SubmittersRCV003809398
NM_005373.3(MPL):c.407C>T (p.Pro136Leu) SNV
Germline		 Chr1:43339286 Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
not specified		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003815415RCV004701836
NM_005373.3(MPL):c.391G>C (p.Gly131Arg) SNV
Germline		 Chr1:43338720 Likely pathogenic Congenital amegakaryocytic thrombocytopenia 1 Criteria Provided
Single Submitter

1 SubmittersRCV004771730