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.769C>T (p.Arg257Cys)	SNV Germline	Chr1:43340042	Pathogenic/Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Condition: not provided Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts	CA123774	rs_121913611	6 SubmittersRCV000015219 RCV001038272 RCV001818159 RCV004558256
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 SubmittersRCV000015220 RCV001378786 RCV004558257
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)	SNV Germline	Chr1:43338634	Pathogenic	Congenital amegakaryocytic thrombocytopenia not specified Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Condition: not provided Thrombocythemia 2 Congenital amegakaryocytic thrombocytopenia Primary myelofibrosis Congenital amegakaryocytic thrombocytopenia 1 Thrombocytopenia	Criteria Provided Multiple Submitters No Conflicts	CA123780	rs_28928907	15 SubmittersRCV000015221 RCV000121539 RCV000792211 RCV001091414 RCV002490372 RCV004558258 RCV000852103
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 Hematologic neoplasm Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Conflicting Classifications	CA123792	rs_121913615	4 SubmittersRCV000015227 RCV000022668 RCV000422740 RCV000501989 RCV001361128
NM_005373.3(MPL):c.1621C>T (p.Gln541Ter)	SNV Germline	Chr1:43352271	Pathogenic	not specified Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter	CA160807	rs_369156948	2 SubmittersRCV000121532 RCV001854660
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 SubmittersRCV000121534 RCV000666995 RCV002517599
NM_005373.3(MPL):c.340G>A (p.Val114Met)	SNV Germline	Chr1:43338669	Conflicting classifications of pathogenicity	not specified Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Condition: not provided	Criteria Provided Conflicting Classifications	CA160821	rs_12731981	11 SubmittersRCV000121540 RCV000371334 RCV000467700 RCV001594849
NM_005373.3(MPL):c.655C>G (p.Gln219Glu)	SNV Germline	Chr1:43339534	Conflicting classifications of pathogenicity	not specified Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Condition: not provided	Criteria Provided Conflicting Classifications	CA160831	rs_142737453	6 SubmittersRCV000121544 RCV000665815 RCV000796648 RCV003407517
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 SubmittersRCV000121549 RCV000860830 RCV000778239
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 SubmittersRCV000121552 RCV000670806 RCV000867193 RCV001270539 RCV004542901
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	8 SubmittersRCV000121554 RCV000315154 RCV000400513 RCV001246816 RCV001358413
NM_005373.3(MPL):c.79+2T>A	SNV Germline	Chr1:43337929	Pathogenic/Likely pathogenic	not specified Condition: not provided Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia Primary myelofibrosis Thrombocythemia 2 MPL-related disorder Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Thrombocytopenia Primary myelofibrosis	Criteria Provided Multiple Submitters No Conflicts	CA163017	rs_146249964	15 SubmittersRCV000122423 RCV000254762 RCV000586535 RCV000763338 RCV000778237 RCV000801559 RCV000851882 RCV001330057
NM_005373.3(MPL):c.1565+5C>T	SNV Germline	Chr1:43349364	Conflicting classifications of pathogenicity	not specified Thrombocythemia 1 Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Condition: not provided MPL-related disorder	Criteria Provided Conflicting Classifications	CA163018	rs_41269541	12 SubmittersRCV000122424 RCV000282111 RCV000232182 RCV000337044 RCV001689671 RCV004528839
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 Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia Thrombocythemia 2 Primary myelofibrosis MPL-related disorder Congenital amegakaryocytic thrombocytopenia 1	Criteria Provided Multiple Submitters No Conflicts	CA806636	rs_750046020	10 SubmittersRCV000255329 RCV000814672 RCV001731468 RCV002250607 RCV002479991 RCV004542964 RCV003992253
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 SubmittersRCV000301346 RCV000356128 RCV002059483
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 SubmittersRCV000339711 RCV000394158 RCV002522129 RCV003129824 RCV004537670
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 SubmittersRCV000309183 RCV000390481 RCV000464665 RCV001356726 RCV001820856
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 SubmittersRCV000328339 RCV000382787 RCV002059484
NM_005373.3(MPL):c.1467C>T (p.Thr489=)	SNV Germline	Chr1:43349001	Conflicting classifications of pathogenicity	Congenital amegakaryocytic thrombocytopenia Thrombocythemia 1 Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Condition: not provided MPL-related disorder	Criteria Provided Conflicting Classifications	CA806900	rs_759161511	5 SubmittersRCV000321411 RCV000376584 RCV000863244 RCV003409452 RCV004537672
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp)	SNV Germline	Chr1:43352259	Conflicting classifications of pathogenicity	Congenital amegakaryocytic thrombocytopenia Thrombocythemia 1 Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA806970	rs_148784027	4 SubmittersRCV000352022 RCV000397980 RCV001245598 RCV003409454 RCV003114469
NM_005373.3(MPL):c.1666G>T (p.Val556Phe)	SNV Germline	Chr1:43352530	Conflicting classifications of pathogenicity	Thrombocythemia 1 Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Conflicting Classifications	CA807008	rs_150004498	3 SubmittersRCV000269486 RCV000363866 RCV001850560
NM_005373.3(MPL):c.127C>T (p.Arg43Ter)	SNV Germline	Chr1:43338146	Pathogenic	Congenital amegakaryocytic thrombocytopenia MPL-related disorder Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA806582	rs_148434485	7 SubmittersRCV000411190 RCV000778238 RCV001248333 RCV001782878
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 SubmittersRCV000414099 RCV000825643 RCV001042667
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 SubmittersRCV000412964 RCV002524635
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	Criteria Provided Conflicting Classifications	CA806590	rs_6087	3 SubmittersRCV001272210 RCV002481475 RCV003153643
NM_005373.3(MPL):c.1336G>A (p.Gly446Arg)	SNV Germline	Chr1:43348870	Conflicting classifications of pathogenicity	not specified Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia MPL-related disorder	Criteria Provided Conflicting Classifications	CA806882	rs_561818288	4 SubmittersRCV000499546 RCV001326177 RCV001829428 RCV004541563
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter)	SNV Germline	Chr1:43348956	Conflicting classifications of pathogenicity	MPL-related disorder Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Condition: not provided	Criteria Provided Conflicting Classifications		rs_754859909	4 SubmittersRCV000778241 RCV001055113 RCV001816834
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 SubmittersRCV000778242 RCV002536728
NM_005373.3(MPL):c.304C>T (p.Arg102Cys)	SNV Germline	Chr1:43338633	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter		rs_763568293	3 SubmittersRCV000798314 RCV001272212
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 SubmittersRCV000818204 RCV001420932
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 Congenital amegakaryocytic thrombocytopenia Primary myelofibrosis Thrombocythemia 2	Criteria Provided Multiple Submitters No Conflicts		rs_769297582	4 SubmittersRCV000824356 RCV001825676 RCV002478934
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 SubmittersRCV000868773 RCV001272211 RCV003442127
NM_005373.3(MPL):c.1247G>A (p.Trp416Ter)	SNV Germline	Chr1:43346873	Pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	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 SubmittersRCV001102306 RCV003769073
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter)	SNV Germline	Chr1:43338208	Pathogenic/Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Condition: not provided Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Multiple Submitters No Conflicts		rs_1373623383	3 SubmittersRCV001174802 RCV001819878 RCV003769858
NM_005373.3(MPL):c.1270C>T (p.Gln424Ter)	SNV Germline	Chr1:43346896	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter		rs_1647060064	1 SubmittersRCV001220159
NM_005373.3(MPL):c.1348G>T (p.Glu450Ter)	SNV Germline	Chr1:43348882	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter		rs_1647073222	1 SubmittersRCV001219121
NM_005373.3(MPL):c.268C>T (p.Arg90Ter)	SNV Germline	Chr1:43338597	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Multiple Submitters No Conflicts		rs_763144679	3 SubmittersRCV001229853 RCV001251410
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 SubmittersRCV001263972 RCV001383285
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 SubmittersRCV001264138 RCV003770375
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 SubmittersRCV001270587 RCV001880205
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	Criteria Provided Conflicting Classifications		rs_144210383	3 SubmittersRCV001270506 RCV002537729 RCV003225170
NM_005373.3(MPL):c.1309-1G>T	SNV Germline	Chr1:43348842	Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter		rs_1243113655	2 SubmittersRCV001377235 RCV001831336
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/Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia MPL-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_759361904	2 SubmittersRCV001381626 RCV004545220
NM_005373.3(MPL):c.1042C>T (p.Gln348Ter)	SNV Germline	Chr1:43346506	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	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	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	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 SubmittersRCV001391694 RCV001836393 RCV003132494 RCV004545225
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 SubmittersRCV001433551 RCV003405660
NM_005373.3(MPL):c.1359G>A (p.Pro453=)	SNV Germline	Chr1:43348893	Conflicting classifications of pathogenicity	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia not specified	Criteria Provided Conflicting Classifications		rs_1262936822	2 SubmittersRCV001469287 RCV001820162
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		rs_1443655691	4 SubmittersRCV001733392 RCV001821972 RCV002488495 RCV002538718
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 SubmittersRCV001885187 RCV003325580
NM_005373.3(MPL):c.460T>C (p.Trp154Arg)	SNV Germline	Chr1:43339339	Pathogenic/Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Primary myelofibrosis Thrombocythemia 2 MPL-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_758428763	3 SubmittersRCV002025904 RCV002486650 RCV004538731
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	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter		rs_2153918730	1 SubmittersRCV002048862
NM_005373.3(MPL):c.1378C>T (p.Gln460Ter)	SNV Germline	Chr1:43348912	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	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	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Primary myelofibrosis Thrombocythemia 2	Criteria Provided Multiple Submitters No Conflicts		rs_1169744090	2 SubmittersRCV001941570 RCV002507695
NM_005373.3(MPL):c.407C>A (p.Pro136His)	SNV Germline	Chr1:43339286	Likely pathogenic	Congenital amegakaryocytic thrombocytopenia Essential thrombocythemia	Criteria Provided Single Submitter		rs_764904424	1 SubmittersRCV001891969
NM_005373.3(MPL):c.478G>T (p.Glu160Ter)	SNV Germline	Chr1:43339357	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	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 SubmittersRCV002012532 RCV002497985
NM_005373.3(MPL):c.1684G>T (p.Glu562Ter)	SNV Germline	Chr1:43352548	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter			1 SubmittersRCV002591686
NM_005373.3(MPL):c.57C>A (p.Asn19Lys)	SNV Germline	Chr1:43337905	Conflicting classifications of pathogenicity	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV002852457 RCV002875591
NM_005373.3(MPL):c.1305G>C (p.Trp435Cys)	SNV Germline	Chr1:43346931	Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002913014 RCV003491161
NM_005373.3(MPL):c.1469-2A>T	SNV Germline	Chr1:43349261	Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter			1 SubmittersRCV002957836
NM_005373.3(MPL):c.948C>A (p.Tyr316Ter)	SNV Germline	Chr1:43340481	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	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.1308+2T>G	SNV Germline	Chr1:43346936	Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter			1 SubmittersRCV003785614
NM_005373.3(MPL):c.1430G>A (p.Trp477Ter)	SNV Germline	Chr1:43348964	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter			1 SubmittersRCV003786065
NM_005373.3(MPL):c.690+2T>C	SNV Germline	Chr1:43339571	Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter			1 SubmittersRCV003793504
NM_005373.3(MPL):c.213-1G>A	SNV Germline	Chr1:43338541	Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter			1 SubmittersRCV003780945
NM_005373.3(MPL):c.1033C>T (p.Gln345Ter)	SNV Germline	Chr1:43346497	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter			1 SubmittersRCV003786878
NM_005373.3(MPL):c.79+1G>A	SNV Germline	Chr1:43337928	Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter			1 SubmittersRCV003807894
NM_005373.3(MPL):c.1468+1G>A	SNV Germline	Chr1:43349003	Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter			1 SubmittersRCV003791499
NM_005373.3(MPL):c.11G>A (p.Trp4Ter)	SNV Germline	Chr1:43337859	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter			1 SubmittersRCV003799488
NM_005373.3(MPL):c.89T>A (p.Leu30Ter)	SNV Germline	Chr1:43338108	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter			1 SubmittersRCV003803808
NM_005373.3(MPL):c.582C>A (p.Cys194Ter)	SNV Germline	Chr1:43339461	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter			1 SubmittersRCV003796758
NM_005373.3(MPL):c.1231C>T (p.Gln411Ter)	SNV Germline	Chr1:43346857	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter			1 SubmittersRCV003796998
NM_005373.3(MPL):c.709G>T (p.Glu237Ter)	SNV Germline	Chr1:43339982	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter			1 SubmittersRCV003800457
NM_005373.3(MPL):c.1015A>T (p.Lys339Ter)	SNV Germline	Chr1:43346479	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter			1 SubmittersRCV003801902
NM_005373.3(MPL):c.854-1G>A	SNV Germline	Chr1:43340386	Likely pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter			1 SubmittersRCV003813549
NM_005373.3(MPL):c.916C>T (p.Gln306Ter)	SNV Germline	Chr1:43340449	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter			1 SubmittersRCV003809398
NM_005373.3(MPL):c.407C>T (p.Pro136Leu)	SNV Germline	Chr1:43339286	Pathogenic	Essential thrombocythemia Congenital amegakaryocytic thrombocytopenia	Criteria Provided Single Submitter			1 SubmittersRCV003815415

SNV
Germline

Chr1:43340042

Pathogenic/Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Condition: not provided
Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA123774

rs_121913611

6 SubmittersRCV000015219 RCV001038272 RCV001818159 RCV004558256

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 SubmittersRCV000015220 RCV001378786 RCV004558257

NM_005373.3(MPL):c.305G>C (p.Arg102Pro)

SNV
Germline

Chr1:43338634

Pathogenic

Congenital amegakaryocytic thrombocytopenia
not specified
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Condition: not provided
Thrombocythemia 2
Congenital amegakaryocytic thrombocytopenia
Primary myelofibrosis
Congenital amegakaryocytic thrombocytopenia 1
Thrombocytopenia

Criteria Provided
Multiple Submitters
No Conflicts

CA123780

rs_28928907

15 SubmittersRCV000015221 RCV000121539 RCV000792211 RCV001091414 RCV002490372 RCV004558258 RCV000852103

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
Hematologic neoplasm
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Conflicting Classifications

CA123792

rs_121913615

4 SubmittersRCV000015227 RCV000022668 RCV000422740 RCV000501989 RCV001361128

NM_005373.3(MPL):c.1621C>T (p.Gln541Ter)

SNV
Germline

Chr1:43352271

Pathogenic

not specified
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

CA160807

rs_369156948

2 SubmittersRCV000121532 RCV001854660

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 SubmittersRCV000121534 RCV000666995 RCV002517599

NM_005373.3(MPL):c.340G>A (p.Val114Met)

SNV
Germline

Chr1:43338669

Conflicting classifications of pathogenicity

not specified
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA160821

rs_12731981

11 SubmittersRCV000121540 RCV000371334 RCV000467700 RCV001594849

NM_005373.3(MPL):c.655C>G (p.Gln219Glu)

SNV
Germline

Chr1:43339534

Conflicting classifications of pathogenicity

not specified
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA160831

rs_142737453

6 SubmittersRCV000121544 RCV000665815 RCV000796648 RCV003407517

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 SubmittersRCV000121549 RCV000860830 RCV000778239

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 SubmittersRCV000121552 RCV000670806 RCV000867193 RCV001270539 RCV004542901

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

8 SubmittersRCV000121554 RCV000315154 RCV000400513 RCV001246816 RCV001358413

NM_005373.3(MPL):c.79+2T>A

SNV
Germline

Chr1:43337929

Pathogenic/Likely pathogenic

not specified
Condition: not provided
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Primary myelofibrosis
Thrombocythemia 2
MPL-related disorder
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Thrombocytopenia
Primary myelofibrosis

Criteria Provided
Multiple Submitters
No Conflicts

CA163017

rs_146249964

15 SubmittersRCV000122423 RCV000254762 RCV000586535 RCV000763338 RCV000778237 RCV000801559 RCV000851882 RCV001330057

NM_005373.3(MPL):c.1565+5C>T

SNV
Germline

Chr1:43349364

Conflicting classifications of pathogenicity

not specified
Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Condition: not provided
MPL-related disorder

Criteria Provided
Conflicting Classifications

CA163018

rs_41269541

12 SubmittersRCV000122424 RCV000282111 RCV000232182 RCV000337044 RCV001689671 RCV004528839

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
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 2
Primary myelofibrosis
MPL-related disorder
Congenital amegakaryocytic thrombocytopenia 1

Criteria Provided
Multiple Submitters
No Conflicts

CA806636

rs_750046020

10 SubmittersRCV000255329 RCV000814672 RCV001731468 RCV002250607 RCV002479991 RCV004542964 RCV003992253

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 SubmittersRCV000301346 RCV000356128 RCV002059483

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 SubmittersRCV000339711 RCV000394158 RCV002522129 RCV003129824 RCV004537670

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 SubmittersRCV000309183 RCV000390481 RCV000464665 RCV001356726 RCV001820856

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 SubmittersRCV000328339 RCV000382787 RCV002059484

NM_005373.3(MPL):c.1467C>T (p.Thr489=)

SNV
Germline

Chr1:43349001

Conflicting classifications of pathogenicity

Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Condition: not provided
MPL-related disorder

Criteria Provided
Conflicting Classifications

CA806900

rs_759161511

5 SubmittersRCV000321411 RCV000376584 RCV000863244 RCV003409452 RCV004537672

NM_005373.3(MPL):c.1609C>T (p.Arg537Trp)

SNV
Germline

Chr1:43352259

Conflicting classifications of pathogenicity

Congenital amegakaryocytic thrombocytopenia
Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA806970

rs_148784027

4 SubmittersRCV000352022 RCV000397980 RCV001245598 RCV003409454 RCV003114469

NM_005373.3(MPL):c.1666G>T (p.Val556Phe)

SNV
Germline

Chr1:43352530

Conflicting classifications of pathogenicity

Thrombocythemia 1
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Conflicting Classifications

CA807008

rs_150004498

3 SubmittersRCV000269486 RCV000363866 RCV001850560

NM_005373.3(MPL):c.127C>T (p.Arg43Ter)

SNV
Germline

Chr1:43338146

Pathogenic

Congenital amegakaryocytic thrombocytopenia
MPL-related disorder
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA806582

rs_148434485

7 SubmittersRCV000411190 RCV000778238 RCV001248333 RCV001782878

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 SubmittersRCV000414099 RCV000825643 RCV001042667

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 SubmittersRCV000412964 RCV002524635

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

Criteria Provided
Conflicting Classifications

CA806590

rs_6087

3 SubmittersRCV001272210 RCV002481475 RCV003153643

NM_005373.3(MPL):c.1336G>A (p.Gly446Arg)

SNV
Germline

Chr1:43348870

Conflicting classifications of pathogenicity

not specified
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia
MPL-related disorder

Criteria Provided
Conflicting Classifications

CA806882

rs_561818288

4 SubmittersRCV000499546 RCV001326177 RCV001829428 RCV004541563

NM_005373.3(MPL):c.1422G>A (p.Trp474Ter)

SNV
Germline

Chr1:43348956

Conflicting classifications of pathogenicity

MPL-related disorder
Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_754859909

4 SubmittersRCV000778241 RCV001055113 RCV001816834

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 SubmittersRCV000778242 RCV002536728

NM_005373.3(MPL):c.304C>T (p.Arg102Cys)

SNV
Germline

Chr1:43338633

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

rs_763568293

3 SubmittersRCV000798314 RCV001272212

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 SubmittersRCV000818204 RCV001420932

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
Congenital amegakaryocytic thrombocytopenia
Primary myelofibrosis
Thrombocythemia 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_769297582

4 SubmittersRCV000824356 RCV001825676 RCV002478934

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 SubmittersRCV000868773 RCV001272211 RCV003442127

NM_005373.3(MPL):c.1247G>A (p.Trp416Ter)

SNV
Germline

Chr1:43346873

Pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

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 SubmittersRCV001102306 RCV003769073

NM_005373.3(MPL):c.189C>A (p.Tyr63Ter)

SNV
Germline

Chr1:43338208

Pathogenic/Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Condition: not provided
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1373623383

3 SubmittersRCV001174802 RCV001819878 RCV003769858

NM_005373.3(MPL):c.1270C>T (p.Gln424Ter)

SNV
Germline

Chr1:43346896

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

rs_1647060064

1 SubmittersRCV001220159

NM_005373.3(MPL):c.1348G>T (p.Glu450Ter)

SNV
Germline

Chr1:43348882

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

rs_1647073222

1 SubmittersRCV001219121

NM_005373.3(MPL):c.268C>T (p.Arg90Ter)

SNV
Germline

Chr1:43338597

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Multiple Submitters
No Conflicts

rs_763144679

3 SubmittersRCV001229853 RCV001251410

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 SubmittersRCV001263972 RCV001383285

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 SubmittersRCV001264138 RCV003770375

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 SubmittersRCV001270587 RCV001880205

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

Criteria Provided
Conflicting Classifications

rs_144210383

3 SubmittersRCV001270506 RCV002537729 RCV003225170

NM_005373.3(MPL):c.1309-1G>T

SNV
Germline

Chr1:43348842

Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

rs_1243113655

2 SubmittersRCV001377235 RCV001831336

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/Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
MPL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_759361904

2 SubmittersRCV001381626 RCV004545220

NM_005373.3(MPL):c.1042C>T (p.Gln348Ter)

SNV
Germline

Chr1:43346506

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

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

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

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 SubmittersRCV001391694 RCV001836393 RCV003132494 RCV004545225

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 SubmittersRCV001433551 RCV003405660

NM_005373.3(MPL):c.1359G>A (p.Pro453=)

SNV
Germline

Chr1:43348893

Conflicting classifications of pathogenicity

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
not specified

Criteria Provided
Conflicting Classifications

rs_1262936822

2 SubmittersRCV001469287 RCV001820162

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

rs_1443655691

4 SubmittersRCV001733392 RCV001821972 RCV002488495 RCV002538718

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 SubmittersRCV001885187 RCV003325580

NM_005373.3(MPL):c.460T>C (p.Trp154Arg)

SNV
Germline

Chr1:43339339

Pathogenic/Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Primary myelofibrosis
Thrombocythemia 2
MPL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_758428763

3 SubmittersRCV002025904 RCV002486650 RCV004538731

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

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

rs_2153918730

1 SubmittersRCV002048862

NM_005373.3(MPL):c.1378C>T (p.Gln460Ter)

SNV
Germline

Chr1:43348912

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

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

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Primary myelofibrosis
Thrombocythemia 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1169744090

2 SubmittersRCV001941570 RCV002507695

NM_005373.3(MPL):c.407C>A (p.Pro136His)

SNV
Germline

Chr1:43339286

Likely pathogenic

Congenital amegakaryocytic thrombocytopenia
Essential thrombocythemia

Criteria Provided
Single Submitter

rs_764904424

1 SubmittersRCV001891969

NM_005373.3(MPL):c.478G>T (p.Glu160Ter)

SNV
Germline

Chr1:43339357

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

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 SubmittersRCV002012532 RCV002497985

NM_005373.3(MPL):c.1684G>T (p.Glu562Ter)

SNV
Germline

Chr1:43352548

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

1 SubmittersRCV002591686

NM_005373.3(MPL):c.57C>A (p.Asn19Lys)

SNV
Germline

Chr1:43337905

Conflicting classifications of pathogenicity

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002852457 RCV002875591

NM_005373.3(MPL):c.1305G>C (p.Trp435Cys)

SNV
Germline

Chr1:43346931

Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002913014 RCV003491161

NM_005373.3(MPL):c.1469-2A>T

SNV
Germline

Chr1:43349261

Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

1 SubmittersRCV002957836

NM_005373.3(MPL):c.948C>A (p.Tyr316Ter)

SNV
Germline

Chr1:43340481

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

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.1308+2T>G

SNV
Germline

Chr1:43346936

Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

1 SubmittersRCV003785614

NM_005373.3(MPL):c.1430G>A (p.Trp477Ter)

SNV
Germline

Chr1:43348964

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

1 SubmittersRCV003786065

NM_005373.3(MPL):c.690+2T>C

SNV
Germline

Chr1:43339571

Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

1 SubmittersRCV003793504

NM_005373.3(MPL):c.213-1G>A

SNV
Germline

Chr1:43338541

Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

1 SubmittersRCV003780945

NM_005373.3(MPL):c.1033C>T (p.Gln345Ter)

SNV
Germline

Chr1:43346497

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

1 SubmittersRCV003786878

NM_005373.3(MPL):c.79+1G>A

SNV
Germline

Chr1:43337928

Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

1 SubmittersRCV003807894

NM_005373.3(MPL):c.1468+1G>A

SNV
Germline

Chr1:43349003

Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

1 SubmittersRCV003791499

NM_005373.3(MPL):c.11G>A (p.Trp4Ter)

SNV
Germline

Chr1:43337859

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

1 SubmittersRCV003799488

NM_005373.3(MPL):c.89T>A (p.Leu30Ter)

SNV
Germline

Chr1:43338108

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

1 SubmittersRCV003803808

NM_005373.3(MPL):c.582C>A (p.Cys194Ter)

SNV
Germline

Chr1:43339461

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

1 SubmittersRCV003796758

NM_005373.3(MPL):c.1231C>T (p.Gln411Ter)

SNV
Germline

Chr1:43346857

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

1 SubmittersRCV003796998

NM_005373.3(MPL):c.709G>T (p.Glu237Ter)

SNV
Germline

Chr1:43339982

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

1 SubmittersRCV003800457

NM_005373.3(MPL):c.1015A>T (p.Lys339Ter)

SNV
Germline

Chr1:43346479

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

1 SubmittersRCV003801902

NM_005373.3(MPL):c.854-1G>A

SNV
Germline

Chr1:43340386

Likely pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

1 SubmittersRCV003813549

NM_005373.3(MPL):c.916C>T (p.Gln306Ter)

SNV
Germline

Chr1:43340449

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

1 SubmittersRCV003809398

NM_005373.3(MPL):c.407C>T (p.Pro136Leu)

SNV
Germline

Chr1:43339286

Pathogenic

Essential thrombocythemia
Congenital amegakaryocytic thrombocytopenia

Criteria Provided
Single Submitter

1 SubmittersRCV003815415