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Items: 1 to 100 of 101

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
MPLCongenital amegakaryocytic thrombocytopeniaPathogenic
(Aug 1, 2000)
no assertion criteria provided
2.
MPLCongenital amegakaryocytic thrombocytopeniaPathogenic
(Mar 16, 1999)
no assertion criteria provided
3.
GRCh37:
Chr1:43803600
GRCh38:
Chr1:43337929
MPLnot specified, not providedPathogenic
(Sep 16, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr1:43803782
GRCh38:
Chr1:43338111
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Jan 30, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr1:43803785
GRCh38:
Chr1:43338114
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr1:43803807
GRCh38:
Chr1:43338136
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemia, Thrombocytosis, benign familial microcytic,
not specified
Likely benign, risk factor
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr1:43803817
GRCh38:
Chr1:43338146
MPLCongenital amegakaryocytic thrombocytopeniaPathogenic
(Oct 31, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr1:43803863
GRCh38:
Chr1:43338192
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Nov 8, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr1:43803886
GRCh38:
Chr1:43338215
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr1:43803899
GRCh38:
Chr1:43338228
MPLnot specifiedLikely benign
(May 15, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr1:43803900
GRCh38:
Chr1:43338229
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemia, not specified
Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr1:43804235-43804236
GRCh38:
Chr1:43338564-43338565
MPLCongenital amegakaryocytic thrombocytopenia, not specifiedPathogenic
(Apr 18, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr1:43804263
GRCh38:
Chr1:43338592
MPLnot specifiednot provided
(Sep 19, 2013)
no assertion provided
14.
GRCh37:
Chr1:43804305
GRCh38:
Chr1:43338634
MPLCongenital amegakaryocytic thrombocytopenia, not specifiedPathogenic
(Jun 1, 2008)
no assertion criteria provided
15.
GRCh37:
Chr1:43804317
GRCh38:
Chr1:43338646
MPLnot providedPathogenic
(May 11, 2015)
criteria provided, single submitter
16.
GRCh37:
Chr1:43804340
GRCh38:
Chr1:43338669
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemia, not specified
Benign/Likely benign
(Jul 24, 2016)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr1:43804378
GRCh38:
Chr1:43338707
MPLnot specified, not providedPathogenic
(Aug 29, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr1:43804396
GRCh38:
Chr1:43338725
MPLnot providedPathogenic
(Apr 2, 2015)
criteria provided, single submitter
19.
GRCh37:
Chr1:43804438
GRCh38:
Chr1:43338767
MPLnot specifiedLikely benigncriteria provided, single submitter
20.
GRCh37:
Chr1:43805079
GRCh38:
Chr1:43339408
MPLnot specifiednot provided
(Sep 19, 2013)
no assertion provided
21.
GRCh37:
Chr1:43805093
GRCh38:
Chr1:43339422
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr1:43805099
GRCh38:
Chr1:43339428
MPLnot specifiedUncertain significance
(Oct 26, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr1:43805106
GRCh38:
Chr1:43339435
MPLCongenital amegakaryocytic thrombocytopeniaPathogenic
(Mar 16, 1999)
no assertion criteria provided
24.
GRCh37:
Chr1:43805169
GRCh38:
Chr1:43339498
MPLnot specifiednot provided
(Sep 19, 2013)
no assertion provided
25.
GRCh37:
Chr1:43805172
GRCh38:
Chr1:43339501
MPLnot specifiednot provided
(Sep 19, 2013)
no assertion provided
26.
GRCh37:
Chr1:43805205
GRCh38:
Chr1:43339534
MPLnot specifiednot provided
(Sep 19, 2013)
no assertion provided
27.
GRCh37:
Chr1:43805240
GRCh38:
Chr1:43339569
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemia, not specified
Benign
(Jan 10, 2017)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr1:43805251
GRCh38:
Chr1:43339580
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr1:43805677
GRCh38:
Chr1:43340006
MPLnot specifiednot provided
(Sep 19, 2013)
no assertion provided
30.
GRCh37:
Chr1:43805686-43805687
GRCh38:
Chr1:43340015-43340016
MPLnot specifiednot provided
(Sep 19, 2013)
no assertion provided
31.
GRCh37:
Chr1:43805698
GRCh38:
Chr1:43340027
MPLnot specifiednot provided
(Sep 19, 2013)
no assertion provided
32.
GRCh37:
Chr1:43805713
GRCh38:
Chr1:43340042
MPLCongenital amegakaryocytic thrombocytopeniaPathogenic
(Jun 1, 2008)
no assertion criteria provided
33.
GRCh37:
Chr1:43805737
GRCh38:
Chr1:43340066
MPLnot specifiedLikely benign
(Oct 7, 2015)
criteria provided, single submitter
34.
GRCh37:
Chr1:43805767
GRCh38:
Chr1:43340096
MPLCongenital amegakaryocytic thrombocytopeniaPathogenic
(Jan 1, 2001)
no assertion criteria provided
35.
GRCh37:
Chr1:43805788
GRCh38:
Chr1:43340117
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Feb 5, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr1:43806055
GRCh38:
Chr1:43340384
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr1:43806166
GRCh38:
Chr1:43340495
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemia, not specified
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr1:43806176
GRCh38:
Chr1:43340505
MPLCongenital amegakaryocytic thrombocytopeniaPathogenic
(Oct 8, 2015)
criteria provided, single submitter
39.
GRCh37:
Chr1:43812075
GRCh38:
Chr1:43346404
MPLnot specifiedBenigncriteria provided, single submitter
40.
GRCh37:
Chr1:43812138
GRCh38:
Chr1:43346467
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr1:43812186
GRCh38:
Chr1:43346515
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr1:43812198
GRCh38:
Chr1:43346527
MPLnot specifiednot provided
(Sep 19, 2013)
no assertion provided
43.
GRCh37:
Chr1:43812237
GRCh38:
Chr1:43346566
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemia, not specified
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr1:43812255
GRCh38:
Chr1:43346584
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemia, not specified
Benign/Likely benign
(Sep 21, 2016)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr1:43812255-43812256
GRCh38:
Chr1:43346584-43346585
MPLnot specifiednot provided
(Sep 19, 2013)
no assertion provided
46.
GRCh37:
Chr1:43812535
GRCh38:
Chr1:43346864
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr1:43812600
GRCh38:
Chr1:43346929
MPLCongenital amegakaryocytic thrombocytopeniaLikely pathogenic
(Apr 25, 2017)
criteria provided, single submitter
48.
GRCh37:
Chr1:43814504
GRCh38:
Chr1:43348833
MPLnot specifiedLikely benign
(Mar 1, 2016)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr1:43814536
GRCh38:
Chr1:43348865
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr1:43814541
GRCh38:
Chr1:43348870
MPLnot specifiedUncertain significance
(Nov 24, 2015)
criteria provided, single submitter
51.
GRCh37:
Chr1:43814542
GRCh38:
Chr1:43348871
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr1:43814672
GRCh38:
Chr1:43349001
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr1:43814675
GRCh38:
Chr1:43349004
MPLnot providedPathogenic
(Mar 11, 2015)
criteria provided, single submitter
54.
GRCh37:
Chr1:43814710
GRCh38:
Chr1:43349039
MPLnot specifiedLikely benigncriteria provided, single submitter
55.
GRCh37:
Chr1:43814938
GRCh38:
Chr1:43349267
MPLCongenital amegakaryocytic thrombocytopeniaPathogenic
(Aug 1, 2000)
no assertion criteria provided
56.
GRCh37:
Chr1:43814978
GRCh38:
Chr1:43349307
MPLnot specifiedUncertain significance
(Apr 18, 2017)
criteria provided, single submitter
57.
GRCh37:
Chr1:43814978
GRCh38:
Chr1:43349307
MPLMyeloproliferative NeoplasmLikely pathogenic
(Oct 2, 2014)
no assertion criteria provided
58.
GRCh37:
Chr1:43814979
GRCh38:
Chr1:43349308
MPLEssential thrombocythemia, Myelofibrosis, Thrombocytosis, benign familial microcytic,
Myeloproliferative Neoplasm
Pathogenic/Likely pathogenic
(Oct 2, 2014)
no assertion criteria provided
59.
GRCh37:
Chr1:43815008-43815009
GRCh38:
Chr1:43349337-43349338
MPLMyelofibrosis with myeloid metaplasia, somatic, Myelofibrosis with myeloid metaplasiaPathogenic
(Nov 15, 2006)
no assertion criteria provided
60.
GRCh37:
Chr1:43815009
GRCh38:
Chr1:43349338
MPLCongenital amegakaryocytic thrombocytopenia, Myelofibrosis with myeloid metaplasia, somatic, Myelofibrosis with myeloid metaplasia,
Thrombocythemia 2, somatic, Hematologic neoplasm
Pathogenic/Likely pathogenic
(Oct 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr1:43815035
GRCh38:
Chr1:43349364
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemia, not specified
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr1:43817891
GRCh38:
Chr1:43352220
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr1:43817930
GRCh38:
Chr1:43352259
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr1:43817942
GRCh38:
Chr1:43352271
MPLnot specifiednot provided
(Sep 19, 2013)
no assertion provided
65.
GRCh37:
Chr1:43817977
GRCh38:
Chr1:43352306
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemia, not specified
Benign/Likely benign
(Jun 21, 2016)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr1:43818179
GRCh38:
Chr1:43352508
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaBenign/Likely benign
(Oct 25, 2016)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr1:43818201
GRCh38:
Chr1:43352530
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr1:43818280
GRCh38:
Chr1:43352609
MPLnot specifiednot provided
(Sep 19, 2013)
no assertion provided
69.
GRCh37:
Chr1:43818329
GRCh38:
Chr1:43352658
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemia, not specified
Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr1:43818439
GRCh38:
Chr1:43352768
MPLCongenital amegakaryocytic thrombocytopeniaPathogenic
(Jun 1, 2008)
no assertion criteria provided
71.
GRCh37:
Chr1:43818529
GRCh38:
Chr1:43352858
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr1:43818537
GRCh38:
Chr1:43352866
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr1:43818807
GRCh38:
Chr1:43353136
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr1:43818843
GRCh38:
Chr1:43353172
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr1:43819016
GRCh38:
Chr1:43353345
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr1:43819100
GRCh38:
Chr1:43353429
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr1:43819105
GRCh38:
Chr1:43353434
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr1:43819144-43819148
GRCh38:
Chr1:43353473-43353477
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr1:43819148
GRCh38:
Chr1:43353477
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr1:43819152
GRCh38:
Chr1:43353481
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr1:43819191
GRCh38:
Chr1:43353520
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr1:43819314
GRCh38:
Chr1:43353643
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr1:43819325
GRCh38:
Chr1:43353654
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr1:43819367
GRCh38:
Chr1:43353696
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr1:43819414
GRCh38:
Chr1:43353743
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr1:43819497
GRCh38:
Chr1:43353826
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr1:43819555
GRCh38:
Chr1:43353884
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr1:43819559
GRCh38:
Chr1:43353888
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr1:43819569
GRCh38:
Chr1:43353898
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr1:43819623
GRCh38:
Chr1:43353952
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr1:43819659
GRCh38:
Chr1:43353988
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr1:43819794
GRCh38:
Chr1:43354123
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr1:43819929
GRCh38:
Chr1:43354258
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr1:43819949
GRCh38:
Chr1:43354278
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr1:43819949
GRCh38:
Chr1:43354278
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr1:43820046
GRCh38:
Chr1:43354375
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr1:43820117
GRCh38:
Chr1:43354446
MPLCongenital amegakaryocytic thrombocytopenia, Essential thrombocythemiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr1:42914303-45001279
See casesPathogenicno assertion criteria provided
99.
GRCh37:
Chr1:40928087-45133712
GRCh38:
Chr1:40462415-44668040
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
100.
GRCh37:
Chr1:38688409-46101848
GRCh38:
Chr1:38222737-45636176
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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