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Items: 1 to 100 of 214

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr9:5070058
GRCh38:
Chr9:5070058
INSL6, JAK2Budd-Chiari syndrome, Thrombocythemia 3, Primary myelofibrosis,
Acute myeloid leukemia, Primary familial polycythemia due to EPO receptor mutation, Acquired polycythemia vera,
not provided, Acquired polycythemia vera		Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
2.
GRCh37:
Chr1:169481514
GRCh38:
Chr1:169512276
F5Thrombophilia due to thrombin defect, Factor V deficiency, Budd-Chiari syndrome
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
3.
GRCh37:
Chr1:169509981
GRCh38:
Chr1:169540743
F5Thrombophilia due to thrombin defect, Factor V deficiency, Budd-Chiari syndrome
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
4.
GRCh37:
Chr1:169497306
GRCh38:
Chr1:169528068
F5P1816SBudd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Conflicting interpretations of pathogenicity
(Feb 12, 2022)		criteria provided, conflicting interpretations
5.
GRCh37:
Chr1:169494134
GRCh38:
Chr1:169524896
F5P1910LThrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
6.
GRCh37:
Chr1:169529781
GRCh38:
Chr1:169560543
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
7.
GRCh37:
Chr1:169521933
GRCh38:
Chr1:169552695
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
8.
GRCh37:
Chr1:169483263
GRCh38:
Chr1:169514025
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Thrombophilia due to activated protein C resistance,
Factor V deficiency		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
9.
GRCh37:
Chr1:169482118
GRCh38:
Chr1:169512880
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Thrombophilia due to activated protein C resistance,
Factor V deficiency		Uncertain significance
(Mar 30, 2018)		criteria provided, single submitter
10.
GRCh37:
Chr1:169481836
GRCh38:
Chr1:169512598
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
11.
GRCh37:
Chr1:169482314
GRCh38:
Chr1:169513076
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
12.
GRCh37:
Chr1:169481775
GRCh38:
Chr1:169512537
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
13.
GRCh37:
Chr1:169481403
GRCh38:
Chr1:169512165
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
14.
GRCh37:
Chr1:169510518
GRCh38:
Chr1:169541280
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
15.
GRCh37:
Chr1:169510376
GRCh38:
Chr1:169541138
F5Q1318KBudd-Chiari syndrome, Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome,
Ischemic stroke, Factor V deficiency, Pregnancy loss, recurrent, susceptibility to, 1,
Thrombophilia due to thrombin defect, Factor V deficiency		Likely benign
(May 16, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr1:169510367
GRCh38:
Chr1:169541129
F5I1321LThrombophilia due to thrombin defect, Factor V deficiency, Budd-Chiari syndrome
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr1:169510156
GRCh38:
Chr1:169540918
F5M1391TFactor V deficiency, Thrombophilia due to thrombin defect, Budd-Chiari syndrome
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
18.
GRCh37:
Chr1:169529856
GRCh38:
Chr1:169560618
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Mar 30, 2018)		criteria provided, single submitter
19.
GRCh37:
Chr1:169494083
GRCh38:
Chr1:169524845
F5E1927GBudd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
20.
GRCh37:
Chr1:169528493
GRCh38:
Chr1:169559255
F5Q210KFactor V deficiency, Budd-Chiari syndrome, Thrombophilia due to thrombin defect
Conflicting interpretations of pathogenicity
(Dec 7, 2019)		criteria provided, conflicting interpretations
21.
GRCh37:
Chr1:169487754
GRCh38:
Chr1:169518516
F5Q2081EBudd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
22.
GRCh37:
Chr1:169487697
GRCh38:
Chr1:169518459
F5R2100CFactor V deficiency, Thrombophilia due to thrombin defect, Budd-Chiari syndrome
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
23.
GRCh37:
Chr1:169483185
GRCh38:
Chr1:169513947
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
24.
GRCh37:
Chr1:169482508
GRCh38:
Chr1:169513270
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
25.
GRCh37:
Chr1:169512291
GRCh38:
Chr1:169543053
F5F679LInborn genetic diseases, Budd-Chiari syndrome, Thrombophilia due to thrombin defect,
Factor V deficiency		Uncertain significance
(Dec 6, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr1:169482294
GRCh38:
Chr1:169513056
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
27.
GRCh37:
Chr1:169482020
GRCh38:
Chr1:169512782
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 15, 2018)		criteria provided, single submitter
28.
GRCh37:
Chr1:169511059
GRCh38:
Chr1:169541821
F5D1090GThrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr1:169481694
GRCh38:
Chr1:169512456
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr1:169510637
GRCh38:
Chr1:169541399
F5I1231LThrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
31.
GRCh37:
Chr1:169510328
GRCh38:
Chr1:169541090
F5F1334LThrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
32.
GRCh37:
Chr1:169500088
GRCh38:
Chr1:169530850
F5R1715QThrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr1:169541556
GRCh38:
Chr1:169572318
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
34.
GRCh37:
Chr1:169541551
GRCh38:
Chr1:169572313
F5V94AThrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr1:169493149
GRCh38:
Chr1:169523911
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
36.
GRCh37:
Chr1:169524517
GRCh38:
Chr1:169555279
F5R341CBudd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr1:169524505
GRCh38:
Chr1:169555267
F5R345WThrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Conflicting interpretations of pathogenicity
(Dec 7, 2019)		criteria provided, conflicting interpretations
38.
GRCh37:
Chr1:169483476
GRCh38:
Chr1:169514238
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
39.
GRCh37:
Chr1:169519990
GRCh38:
Chr1:169550752
F5Thrombophilia due to thrombin defect, Factor V deficiency, Thrombophilia due to activated protein C resistance,
Budd-Chiari syndrome		Uncertain significance
(Jan 15, 2018)		criteria provided, single submitter
40.
GRCh37:
Chr1:169483175
GRCh38:
Chr1:169513937
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency
Benign/Likely benign
(Apr 27, 2017)		criteria provided, single submitter
41.
GRCh37:
Chr1:169519104
GRCh38:
Chr1:169549866
F5A516SFactor V deficiency, Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome,
Thrombophilia due to thrombin defect		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
42.
GRCh37:
Chr1:169482679
GRCh38:
Chr1:169513441
F5Factor V deficiency, Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome,
Thrombophilia due to thrombin defect		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
43.
GRCh37:
Chr1:169482419
GRCh38:
Chr1:169513181
F5Factor V deficiency, Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome,
Thrombophilia due to thrombin defect		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
44.
GRCh37:
Chr1:169482250
GRCh38:
Chr1:169513012
F5Factor V deficiency, Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome,
Thrombophilia due to thrombin defect		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
45.
GRCh37:
Chr1:169482147
GRCh38:
Chr1:169512909
F5Factor V deficiency, Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome,
Thrombophilia due to thrombin defect		Uncertain significance
(Jan 15, 2018)		criteria provided, single submitter
46.
GRCh37:
Chr1:169511239
GRCh38:
Chr1:169542001
F5R1030QThrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency
Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
47.
GRCh37:
Chr1:169481938
GRCh38:
Chr1:169512700
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Thrombophilia due to activated protein C resistance,
Factor V deficiency		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
48.
GRCh37:
Chr1:169481852
GRCh38:
Chr1:169512614
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Thrombophilia due to activated protein C resistance,
Factor V deficiency		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
49.
GRCh37:
Chr1:169481639
GRCh38:
Chr1:169512401
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Thrombophilia due to activated protein C resistance,
Factor V deficiency		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
50.
GRCh37:
Chr1:169510577
GRCh38:
Chr1:169541339
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Thrombophilia due to activated protein C resistance,
Factor V deficiency		Uncertain significance
(Mar 30, 2018)		criteria provided, single submitter
51.
GRCh37:
Chr1:169481200
GRCh38:
Chr1:169511962
F5Factor V deficiency, Thrombophilia due to activated protein C resistance, Thrombophilia due to thrombin defect,
Budd-Chiari syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
52.
GRCh37:
Chr1:169510463
GRCh38:
Chr1:169541225
F5F1289LFactor V deficiency, Thrombophilia due to activated protein C resistance, Thrombophilia due to thrombin defect,
Budd-Chiari syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
53.
GRCh37:
Chr1:169510315
GRCh38:
Chr1:169541077
F5N1338TBudd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
54.
GRCh37:
Chr1:169510246
GRCh38:
Chr1:169541008
F5P1361LThrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
55.
GRCh37:
Chr1:169497321
GRCh38:
Chr1:169528083
F5M1811LThrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency
Conflicting interpretations of pathogenicity
(Nov 24, 2020)		criteria provided, conflicting interpretations
56.
GRCh37:
Chr1:169530004
GRCh38:
Chr1:169560766
F5G125DThrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
57.
GRCh37:
Chr1:169529812
GRCh38:
Chr1:169560574
F5P189LBudd-Chiari syndrome, Factor V deficiencyUncertain significance
(Apr 27, 2017)		criteria provided, single submitter
58.
GRCh37:
Chr1:169492560
GRCh38:
Chr1:169523322
F5G1975RThrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency
Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
59.
GRCh37:
Chr1:169492550
GRCh38:
Chr1:169523312
F5T1978IThrombophilia due to thrombin defect, Budd-Chiari syndrome, Inborn genetic diseases,
Thrombophilia due to activated protein C resistance, Factor V deficiency		Uncertain significance
(Mar 27, 2023)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr1:169519934
GRCh38:
Chr1:169550696
F5P447RThrombophilia due to thrombin defect, Budd-Chiari syndrome, Thrombophilia due to activated protein C resistance,
Factor V deficiency		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
61.
GRCh37:
Chr1:169509739
GRCh38:
Chr1:169540501
F5E1530AThrombophilia due to thrombin defect, Budd-Chiari syndrome, Thrombophilia due to activated protein C resistance,
Factor V deficiency		Conflicting interpretations of pathogenicity
(Dec 31, 2019)		criteria provided, conflicting interpretations
62.
GRCh37:
Chr1:169489751
GRCh38:
Chr1:169520513
F5Thrombophilia due to thrombin defect, Factor V deficiency, Budd-Chiari syndrome
Conflicting interpretations of pathogenicity
(Dec 31, 2019)		criteria provided, conflicting interpretations
63.
GRCh37:
Chr1:169500231
GRCh38:
Chr1:169530993
F5Thrombophilia due to thrombin defect, not provided, Budd-Chiari syndrome,
Factor V deficiency		Conflicting interpretations of pathogenicity
(Mar 30, 2018)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr1:169512199
GRCh38:
Chr1:169542961
F5H710RThrombophilia due to activated protein C resistance, Budd-Chiari syndrome, Factor V deficiency,
Pregnancy loss, recurrent, susceptibility to, 1, Ischemic stroke, Factor V deficiency
Benign
(Aug 4, 2021)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr1:169511166
GRCh38:
Chr1:169541928
F5E1054DInborn genetic diseases, Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome,
Factor V deficiency, Pregnancy loss, recurrent, susceptibility to, 1, Ischemic stroke,
not provided		Conflicting interpretations of pathogenicity
(Aug 4, 2021)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr1:169505792
GRCh38:
Chr1:169536554
F5Inborn genetic diseases, Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome,
Factor V deficiency, Pregnancy loss, recurrent, susceptibility to, 1, Ischemic stroke,
Factor V deficiency		Benign/Likely benign
(Mar 4, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr1:169483672
GRCh38:
Chr1:169514434
F5K2185RThrombophilia due to activated protein C resistance, Budd-Chiari syndrome, Factor V deficiency,
Pregnancy loss, recurrent, susceptibility to, 1, Ischemic stroke, Factor V deficiency
Likely benign
(Aug 4, 2021)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr1:169510552
GRCh38:
Chr1:169541314
F5S1259Ynot provided, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to thrombin defect		Likely benign
(Nov 9, 2018)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr1:169499020
GRCh38:
Chr1:169529782
F5L1749VBudd-Chiari syndrome, Thrombophilia due to activated protein C resistance, Factor V deficiency,
Thrombophilia due to thrombin defect, not provided		Conflicting interpretations of pathogenicity
(Dec 1, 2020)		criteria provided, conflicting interpretations
70.
GRCh37:
Chr1:169521963
GRCh38:
Chr1:169552725
F5R376SThromboembolism, Deep venous thrombosis, not provided,
Budd-Chiari syndrome, Thrombophilia due to activated protein C resistance, Thrombophilia due to thrombin defect,
Factor V deficiency		Uncertain significance
(May 19, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr1:169499000
GRCh38:
Chr1:169529762
F5I1755MHemorrhage, Inborn genetic diseases, Pregnancy loss, recurrent, susceptibility to, 1,
Ischemic stroke, Thrombophilia due to activated protein C resistance, Budd-Chiari syndrome,
Factor V deficiency, not provided, Thrombophilia due to thrombin defect,
Thrombophilia due to activated protein C resistance, Factor V deficiencyBudd-Chiari syndrome,
...see more		Conflicting interpretations of pathogenicity
(Jun 14, 2021)		criteria provided, conflicting interpretations
72.
GRCh37:
Chr1:169524542
GRCh38:
Chr1:169555304
F5K332NBudd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency
Conflicting interpretations of pathogenicity
(Dec 7, 2019)		criteria provided, conflicting interpretations
73.
GRCh37:
Chr9:5128175-5128176
GRCh38:
Chr9:5128175-5128176
INSL6, JAK2Budd-Chiari syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
74.
GRCh37:
Chr9:5128128
GRCh38:
Chr9:5128128
INSL6, JAK2Budd-Chiari syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
75.
GRCh37:
Chr9:5128081-5128082
GRCh38:
Chr9:5128081-5128082
INSL6, JAK2Budd-Chiari syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
76.
GRCh37:
Chr9:5128080-5128081
GRCh38:
Chr9:5128080-5128081
INSL6, JAK2Budd-Chiari syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
77.
GRCh37:
Chr9:5128078-5128079
GRCh38:
Chr9:5128078-5128079
INSL6, JAK2Budd-Chiari syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
78.
GRCh37:
Chr9:5126880-5126882
GRCh38:
Chr9:5126880-5126882
INSL6, JAK2Budd-Chiari syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
79.
GRCh37:
Chr9:5090435-5090436
GRCh38:
Chr9:5090435-5090436
INSL6, JAK2Budd-Chiari syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
80.
GRCh37:
Chr9:4985601
GRCh38:
Chr9:4985601
JAK2Budd-Chiari syndromeUncertain significance
(Jun 14, 2016)		criteria provided, single submitter
81.
GRCh37:
Chr1:169555734
GRCh38:
Chr1:169586496
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
82.
GRCh37:
Chr1:169555708
GRCh38:
Chr1:169586470
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
83.
GRCh37:
Chr1:169555664
GRCh38:
Chr1:169586426
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Thrombophilia due to activated protein C resistance,
Factor V deficiency		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr1:169555582
GRCh38:
Chr1:169586344
F5G15SBudd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Benign/Likely benign
(Dec 31, 2019)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr1:169555514
GRCh38:
Chr1:169586276
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
86.
GRCh37:
Chr1:169555454
GRCh38:
Chr1:169586216
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
87.
GRCh37:
Chr1:169551754
GRCh38:
Chr1:169582516
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, not provided,
Factor V deficiency, Thrombophilia due to activated protein C resistance		Conflicting interpretations of pathogenicity
(Jul 27, 2018)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr1:169529941
GRCh38:
Chr1:169560703
F5R146QBudd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
89.
GRCh37:
Chr1:169529854
GRCh38:
Chr1:169560616
F5H175RBudd-Chiari syndrome, not provided, Thrombophilia due to thrombin defect,
Factor V deficiency, Thrombophilia due to activated protein C resistance		Conflicting interpretations of pathogenicity
(Dec 31, 2019)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr1:169529840
GRCh38:
Chr1:169560602
F5E180KBudd-Chiari syndrome, Thrombophilia due to thrombin defect, Thrombophilia due to activated protein C resistance,
Factor V deficiency		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
91.
GRCh37:
Chr1:169529814
GRCh38:
Chr1:169560576
F5not provided, Budd-Chiari syndrome, Thrombophilia due to thrombin defect,
Factor V deficiency, Thrombophilia due to activated protein C resistance		Benign/Likely benign
(May 4, 2021)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr1:169526098
GRCh38:
Chr1:169556860
F5Budd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
93.
GRCh37:
Chr1:169525951
GRCh38:
Chr1:169556713
F5not provided, Budd-Chiari syndrome, Thrombophilia due to thrombin defect,
Factor V deficiency, Thrombophilia due to activated protein C resistance		Conflicting interpretations of pathogenicity
(Apr 18, 2018)		criteria provided, conflicting interpretations
94.
GRCh37:
Chr1:169525950
GRCh38:
Chr1:169556712
F5A296TBudd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
95.
GRCh37:
Chr1:169525900
GRCh38:
Chr1:169556662
F5Thrombophilia due to thrombin defect, Budd-Chiari syndrome, Thrombophilia due to activated protein C resistance,
Factor V deficiency		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
96.
GRCh37:
Chr1:169524504
GRCh38:
Chr1:169555266
F5R345QBudd-Chiari syndrome, Thrombophilia due to thrombin defect, Factor V deficiency,
Thrombophilia due to activated protein C resistance		Conflicting interpretations of pathogenicity
(Dec 7, 2019)		criteria provided, conflicting interpretations
97.
GRCh37:
Chr1:169524432
GRCh38:
Chr1:169555194
F5A369VBudd-Chiari syndrome, Thrombophilia due to thrombin defect, not provided,
Factor V deficiency, Thrombophilia due to activated protein C resistance		Conflicting interpretations of pathogenicity
(Dec 7, 2019)		criteria provided, conflicting interpretations
98.
GRCh37:
Chr1:169519974
GRCh38:
Chr1:169550736
F5V434MInborn genetic diseases, Budd-Chiari syndrome, Thrombophilia due to thrombin defect,
Thrombophilia due to activated protein C resistance, Factor V deficiency		Conflicting interpretations of pathogenicity
(Apr 4, 2022)		criteria provided, conflicting interpretations
99.
GRCh37:
Chr1:169519883
GRCh38:
Chr1:169550645
F5T464Inot provided, Thrombophilia due to thrombin defect, Budd-Chiari syndrome,
Factor V deficiency, Thrombophilia due to activated protein C resistance		Conflicting interpretations of pathogenicity
(Aug 5, 2018)		criteria provided, conflicting interpretations
100.
GRCh37:
Chr1:169519112
GRCh38:
Chr1:169549874
F5R513KBudd-Chiari syndrome, Factor V deficiency, not provided,
Thrombophilia due to thrombin defect, Thrombophilia due to activated protein C resistance		Benign/Likely benign
(Nov 10, 2018)		criteria provided, multiple submitters, no conflicts
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