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Items: 1 to 100 of 1512

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:179393000
GRCh38:
Chr2:178528273
TTN, TTN-AS1Primary dilated cardiomyopathy, not specified, not provided
Conflicting interpretations of pathogenicity
(Jun 8, 2016)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr2:179393849
GRCh38:
Chr2:178529122
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr2:179394967
GRCh38:
Chr2:178530240
TTN, TTN-AS1Primary dilated cardiomyopathyUncertain significance
(Oct 8, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr2:179397250
GRCh38:
Chr2:178532523
TTN, TTN-AS1Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Distal myopathy Markesbery-Griggs type, Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy,
Familial hypertrophic cardiomyopathy 9, not provided
Conflicting interpretations of pathogenicity
(Oct 8, 2014)
criteria provided, conflicting interpretations
5.
GRCh37:
Chr2:179397934
GRCh38:
Chr2:178533207
TTN, TTN-AS1Primary dilated cardiomyopathyUncertain significance
(Oct 8, 2014)
criteria provided, single submitter
6.
GRCh37:
Chr2:179398712
GRCh38:
Chr2:178533985
TTN, TTN-AS1Primary dilated cardiomyopathyUncertain significance
(Oct 8, 2014)
criteria provided, single submitter
7.
GRCh37:
Chr2:179399346
GRCh38:
Chr2:178534619
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
8.
GRCh37:
Chr2:179400243-179400244
GRCh38:
Chr2:178535516-178535517
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
9.
GRCh37:
Chr2:179400320-179400321
GRCh38:
Chr2:178535593-178535594
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr2:179401029
GRCh38:
Chr2:178536302
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
11.
GRCh37:
Chr2:179404241
GRCh38:
Chr2:178539514
TTN, TTN-AS1Primary dilated cardiomyopathyUncertain significance
(Oct 8, 2014)
criteria provided, single submitter
12.
GRCh37:
Chr2:179404286
GRCh38:
Chr2:178539559
TTN, TTN-AS1Primary dilated cardiomyopathy, Cardiovascular phenotypeLikely pathogenic
(Feb 11, 2016)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr2:179404492-179404493
GRCh38:
Chr2:178539765-178539766
TTN, TTN-AS1Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G, not specified,
not provided, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Apr 10, 2017)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr2:179404524-179404527
GRCh38:
Chr2:178539797-178539800
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
15.
GRCh37:
Chr2:179407385
GRCh38:
Chr2:178542658
TTN, TTN-AS1Primary dilated cardiomyopathyUncertain significance
(Oct 8, 2014)
criteria provided, single submitter
16.
GRCh37:
Chr2:179407808
GRCh38:
Chr2:178543081
TTN, TTN-AS1Primary dilated cardiomyopathyUncertain significance
(Oct 8, 2014)
criteria provided, single submitter
17.
GRCh37:
Chr2:179408240
GRCh38:
Chr2:178543513
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
18.
GRCh37:
Chr2:179410545-179410548
GRCh38:
Chr2:178545818-178545821
TTN, TTN-AS1Primary dilated cardiomyopathy, not providedLikely pathogenic
(Jan 10, 2017)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr2:179411200-179411206
GRCh38:
Chr2:178546473-178546479
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
20.
GRCh37:
Chr2:179411203
GRCh38:
Chr2:178546476
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
21.
GRCh37:
Chr2:179411593
GRCh38:
Chr2:178546866
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
22.
GRCh37:
Chr2:179413187
GRCh38:
Chr2:178548460
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
23.
GRCh37:
Chr2:179413670
GRCh38:
Chr2:178548943
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
24.
GRCh37:
Chr2:179414065-179414069
GRCh38:
Chr2:178549338-178549342
TTN, TTN-AS1Primary dilated cardiomyopathy, not providedConflicting interpretations of pathogenicity
(Mar 8, 2016)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr2:179414850
GRCh38:
Chr2:178550123
TTN, TTN-AS1Primary dilated cardiomyopathyUncertain significance
(Oct 8, 2014)
criteria provided, single submitter
26.
GRCh37:
Chr2:179417304-179417305
GRCh38:
Chr2:178552577-178552578
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
27.
GRCh37:
Chr2:179417539-179417540
GRCh38:
Chr2:178552812-178552813
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
28.
GRCh37:
Chr2:179417724-179417727
GRCh38:
Chr2:178552997-178553000
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
29.
GRCh37:
Chr2:179417877
GRCh38:
Chr2:178553150
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
30.
GRCh37:
Chr2:179422099-179422102
GRCh38:
Chr2:178557372-178557375
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
31.
GRCh37:
Chr2:179422273
GRCh38:
Chr2:178557546
TTN, TTN-AS1Primary dilated cardiomyopathyConflicting interpretations of pathogenicity
(Oct 8, 2014)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr2:179422457
GRCh38:
Chr2:178557730
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
33.
GRCh37:
Chr2:179423219
GRCh38:
Chr2:178558492
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
34.
GRCh37:
Chr2:179424218
GRCh38:
Chr2:178559491
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
35.
GRCh37:
Chr2:179424399-179424400
GRCh38:
Chr2:178559672-178559673
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
36.
GRCh37:
Chr2:179425769
GRCh38:
Chr2:178561042
TTN, TTN-AS1Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G, Cardiovascular phenotype
Pathogenic/Likely pathogenic
(Nov 24, 2016)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr2:179425848-179425851
GRCh38:
Chr2:178561121-178561124
TTN, TTN-AS1Primary dilated cardiomyopathyUncertain significance
(Oct 8, 2014)
criteria provided, single submitter
38.
GRCh37:
Chr2:179426483
GRCh38:
Chr2:178561756
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
39.
GRCh37:
Chr2:179427344
GRCh38:
Chr2:178562617
TTN, TTN-AS1Primary dilated cardiomyopathy, Dilated cardiomyopathy 1GPathogenic/Likely pathogenic
(Nov 30, 2016)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr2:179428346
GRCh38:
Chr2:178563619
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
41.
GRCh37:
Chr2:179429341
GRCh38:
Chr2:178564614
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
42.
GRCh37:
Chr2:179429538
GRCh38:
Chr2:178564811
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Jun 4, 2015)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr2:179429590-179429597
GRCh38:
Chr2:178564863-178564870
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
44.
GRCh37:
Chr2:179430224
GRCh38:
Chr2:178565497
TTN, TTN-AS1Primary dilated cardiomyopathyUncertain significance
(Oct 8, 2014)
criteria provided, single submitter
45.
GRCh37:
Chr2:179431175
GRCh38:
Chr2:178566448
TTN, TTN-AS1Primary dilated cardiomyopathy, Dilated cardiomyopathy 1GLikely pathogenic
(Jan 12, 2017)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr2:179431868
GRCh38:
Chr2:178567141
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
47.
GRCh37:
Chr2:179432352
GRCh38:
Chr2:178567625
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
48.
GRCh37:
Chr2:179432675
GRCh38:
Chr2:178567948
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
49.
GRCh37:
Chr2:179432761-179432764
GRCh38:
Chr2:178568034-178568037
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
50.
GRCh37:
Chr2:179434473-179434476
GRCh38:
Chr2:178569746-178569749
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
51.
GRCh37:
Chr2:179434742-179434743
GRCh38:
Chr2:178570015-178570016
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
52.
GRCh37:
Chr2:179434744
GRCh38:
Chr2:178570017
TTN, TTN-AS1Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G, not provided
Pathogenic/Likely pathogenic
(Aug 30, 2016)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr2:179435736
GRCh38:
Chr2:178571009
TTN, TTN-AS1Primary dilated cardiomyopathyUncertain significance
(Oct 8, 2014)
criteria provided, single submitter
54.
GRCh37:
Chr2:179435976-179435979
GRCh38:
Chr2:178571249-178571252
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
55.
GRCh37:
Chr2:179436521
GRCh38:
Chr2:178571794
TTN, TTN-AS1Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G, not provided
Pathogenic/Likely pathogenic
(Feb 28, 2017)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr2:179436553
GRCh38:
Chr2:178571826
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
57.
GRCh37:
Chr2:179437750
GRCh38:
Chr2:178573023
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
58.
GRCh37:
Chr2:179440068
GRCh38:
Chr2:178575341
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
59.
GRCh37:
Chr2:179440982
GRCh38:
Chr2:178576255
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
60.
GRCh37:
Chr2:179441016
GRCh38:
Chr2:178576289
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
61.
GRCh37:
Chr2:179441341
GRCh38:
Chr2:178576614
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
62.
GRCh37:
Chr2:179441479-179441480
GRCh38:
Chr2:178576752-178576753
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
63.
GRCh37:
Chr2:179441649
GRCh38:
Chr2:178576922
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
64.
GRCh37:
Chr2:179442329
GRCh38:
Chr2:178577602
TTN, TTN-AS1Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
not specified, Cardiovascular phenotype
Uncertain significance
(Dec 13, 2016)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr2:179444429
GRCh38:
Chr2:178579702
TTN, TTN-AS1Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
Distal myopathy Markesbery-Griggs type, Hereditary myopathy with early respiratory failure, Myopathy, early-onset, with fatal cardiomyopathy,
Familial hypertrophic cardiomyopathy 9, not provided
Pathogenic/Likely pathogenic
(Jun 6, 2017)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr2:179444855
GRCh38:
Chr2:178580128
TTN, TTN-AS1Primary dilated cardiomyopathyUncertain significance
(Oct 8, 2014)
criteria provided, single submitter
67.
GRCh37:
Chr2:179448433
GRCh38:
Chr2:178583706
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
68.
GRCh37:
Chr2:179450018
GRCh38:
Chr2:178585291
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
69.
GRCh37:
Chr2:179452435
GRCh38:
Chr2:178587708
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
70.
GRCh37:
Chr2:179453427
GRCh38:
Chr2:178588700
TTN, TTN-AS1Primary dilated cardiomyopathy, not providedPathogenic/Likely pathogenic
(Oct 16, 2014)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr2:179453946
GRCh38:
Chr2:178589219
TTN, TTN-AS1Primary dilated cardiomyopathyUncertain significance
(Oct 8, 2014)
criteria provided, single submitter
72.
GRCh37:
Chr2:179454957
GRCh38:
Chr2:178590230
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
73.
GRCh37:
Chr2:179455521
GRCh38:
Chr2:178590794
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
74.
GRCh37:
Chr2:179457005
GRCh38:
Chr2:178592278
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
75.
GRCh37:
Chr2:179457321
GRCh38:
Chr2:178592594
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
76.
GRCh37:
Chr2:179457380
GRCh38:
Chr2:178592653
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
77.
GRCh37:
Chr2:179458293
GRCh38:
Chr2:178593566
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
78.
GRCh37:
Chr2:179458948
GRCh38:
Chr2:178594221
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
79.
GRCh37:
Chr2:179462261
GRCh38:
Chr2:178597534
TTN, TTN-AS1Primary dilated cardiomyopathyUncertain significance
(Oct 8, 2014)
criteria provided, single submitter
80.
GRCh37:
Chr2:179463603
GRCh38:
Chr2:178598876
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
81.
GRCh37:
Chr2:179464422
GRCh38:
Chr2:178599695
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
82.
GRCh37:
Chr2:179466193-179466199
GRCh38:
Chr2:178601466-178601472
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
83.
GRCh37:
Chr2:179466515
GRCh38:
Chr2:178601788
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
84.
GRCh37:
Chr2:179470136
GRCh38:
Chr2:178605409
TTN, TTN-AS1Primary dilated cardiomyopathyUncertain significance
(Oct 8, 2014)
criteria provided, single submitter
85.
GRCh37:
Chr2:179470140
GRCh38:
Chr2:178605413
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
86.
GRCh37:
Chr2:179471841
GRCh38:
Chr2:178607114
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
87.
GRCh37:
Chr2:179473511-179473515
GRCh38:
Chr2:178608784-178608788
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
88.
GRCh37:
Chr2:179473610
GRCh38:
Chr2:178608883
TTN, TTN-AS1Primary dilated cardiomyopathyUncertain significance
(Oct 8, 2014)
criteria provided, single submitter
89.
GRCh37:
Chr2:179474001-179474002
GRCh38:
Chr2:178609274-178609275
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
90.
GRCh37:
Chr2:179477005
GRCh38:
Chr2:178612278
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
91.
GRCh37:
Chr2:179477082
GRCh38:
Chr2:178612355
TTN, TTN-AS1Primary dilated cardiomyopathy, not providedLikely pathogenic
(Oct 8, 2014)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr2:179478552
GRCh38:
Chr2:178613825
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
93.
GRCh37:
Chr2:179478665
GRCh38:
Chr2:178613938
TTN, TTN-AS1Primary dilated cardiomyopathy, not providedPathogenic/Likely pathogenic
(May 27, 2015)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr2:179480145
GRCh38:
Chr2:178615418
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
95.
GRCh37:
Chr2:179480363
GRCh38:
Chr2:178615636
TTN, TTN-AS1Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G, Limb-girdle muscular dystrophy, type 2J,
not specified, not provided
Conflicting interpretations of pathogenicity
(Oct 4, 2016)
criteria provided, conflicting interpretations
96.
GRCh37:
Chr2:179481846
GRCh38:
Chr2:178617119
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
97.
GRCh37:
Chr2:179482115
GRCh38:
Chr2:178617388
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
98.
GRCh37:
Chr2:179482120
GRCh38:
Chr2:178617393
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
99.
GRCh37:
Chr2:179483042-179483043
GRCh38:
Chr2:178618315-178618316
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, single submitter
100.
GRCh37:
Chr2:179483495
GRCh38:
Chr2:178618768
TTN, TTN-AS1Primary dilated cardiomyopathyLikely pathogenic
(Oct 8, 2014)
criteria provided, multiple submitters, no conflicts
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