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Items: 1 to 100 of 2795

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr14:102461533
GRCh38:
Chr14:101995196
DYNC1H1E1154KCharcot-Marie-Tooth disease axonal type 2OUncertain significancecriteria provided, single submitter
2.
GRCh37:
Chr14:102476350
GRCh38:
Chr14:102010013
DYNC1H1A2050PIntellectual disability, autosomal dominant 13, Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Likely pathogenic
(Apr 25, 2023)		criteria provided, single submitter
3.
GRCh37:
Chr14:102481614
GRCh38:
Chr14:102015277
DYNC1H1R2396QCharcot-Marie-Tooth disease axonal type 2O, not providedUncertain significance
(Jan 12, 2023)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr14:102506710
GRCh38:
Chr14:102040373
DYNC1H1A3943VCharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Jul 21, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr14:102472515
GRCh38:
Chr14:102006178
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Oct 5, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr14:102506678
GRCh38:
Chr14:102040341
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(May 21, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr14:102228231-105861009
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, PPP2R5C, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839
Charcot-Marie-Tooth disease axonal type 2OUncertain significance
(Aug 23, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr14:102442029-105861009
ADSS1, AHNAK2, AKT1, AMN, ANKRD9, ASPG, ATP5MJ, BAG5, BRF1, BTBD6, C14orf180, CDC42BPB, CDCA4, CEP170B, CINP, CKB, CLBA1, COA8, DYNC1H1, EIF5, EXOC3L4, GPR132, HSP90AA1, INF2, JAG2, KIF26A, KLC1, MARK3, MIR203A, MOK, NUDT14, PACS2, PLD4, PPP1R13B, RCOR1, RD3L, SIVA1, TDRD9, TECPR2, TMEM179, TNFAIP2, TRAF3, TRMT61A, WDR20, XRCC3, ZBTB42, ZFYVE21, ZNF839
Charcot-Marie-Tooth disease axonal type 2OUncertain significance
(Feb 17, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr14:102463352-102469322
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OUncertain significance
(Oct 13, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr14:102460501-102516900
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OUncertain significance
(Nov 8, 2021)		criteria provided, single submitter
11.
GRCh37:
Chr14:102461499
GRCh38:
Chr14:101995162
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Oct 3, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr14:102449610
GRCh38:
Chr14:101983273
DYNC1H1Y406HCharcot-Marie-Tooth disease axonal type 2OLikely benign
(Sep 13, 2022)		criteria provided, single submitter
13.
GRCh37:
Chr14:102502913
GRCh38:
Chr14:102036576
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Sep 27, 2022)		criteria provided, single submitter
14.
GRCh37:
Chr14:102483316
GRCh38:
Chr14:102016979
DYNC1H1R2610WCharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Oct 28, 2022)		criteria provided, single submitter
15.
GRCh37:
Chr14:102431037
GRCh38:
Chr14:101964700
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Apr 29, 2022)		criteria provided, single submitter
16.
GRCh37:
Chr14:102466652
GRCh38:
Chr14:102000315
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Oct 9, 2022)		criteria provided, single submitter
17.
GRCh37:
Chr14:102500730
GRCh38:
Chr14:102034393
DYNC1H1S3565RCharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Dec 25, 2021)		criteria provided, single submitter
18.
GRCh37:
Chr14:102467572
GRCh38:
Chr14:102001235
DYNC1H1V1426Fnot provided, Charcot-Marie-Tooth disease axonal type 2OUncertain significance
(Jun 1, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr14:102483219
GRCh38:
Chr14:102016882
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Sep 17, 2022)		criteria provided, single submitter
20.
GRCh37:
Chr14:102453105
GRCh38:
Chr14:101986768
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OUncertain significance
(May 24, 2022)		criteria provided, single submitter
21.
GRCh37:
Chr14:102516235
GRCh38:
Chr14:102049898
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Sep 14, 2022)		criteria provided, single submitter
22.
GRCh37:
Chr14:102494256
GRCh38:
Chr14:102027919
DYNC1H1, LOC126862060Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Sep 14, 2022)		criteria provided, single submitter
23.
GRCh37:
Chr14:102514229-102514231
GRCh38:
Chr14:102047892-102047894
DYNC1H1K4363delCharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Feb 21, 2022)		criteria provided, single submitter
24.
GRCh37:
Chr14:102483088
GRCh38:
Chr14:102016751
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Jul 27, 2022)		criteria provided, single submitter
25.
GRCh37:
Chr14:102478637
GRCh38:
Chr14:102012300
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OUncertain significance
(Sep 29, 2022)		criteria provided, single submitter
26.
GRCh37:
Chr14:102495999
GRCh38:
Chr14:102029662
DYNC1H1Q3198ECharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Jul 30, 2022)		criteria provided, single submitter
27.
GRCh37:
Chr14:102505425
GRCh38:
Chr14:102039088
DYNC1H1T3765MCharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Sep 9, 2022)		criteria provided, single submitter
28.
GRCh37:
Chr14:102482794
GRCh38:
Chr14:102016457
DYNC1H1T2528ACharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Mar 11, 2022)		criteria provided, single submitter
29.
GRCh37:
Chr14:102466662
GRCh38:
Chr14:102000325
DYNC1H1S1334ACharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Oct 2, 2022)		criteria provided, single submitter
30.
GRCh37:
Chr14:102516197
GRCh38:
Chr14:102049860
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Oct 17, 2022)		criteria provided, single submitter
31.
GRCh37:
Chr14:102489128
GRCh38:
Chr14:102022791
DYNC1H1I2850FCharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Oct 21, 2022)		criteria provided, single submitter
32.
GRCh37:
Chr14:102452944
GRCh38:
Chr14:101986607
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Aug 22, 2022)		criteria provided, single submitter
33.
GRCh37:
Chr14:102505837
GRCh38:
Chr14:102039500
DYNC1H1T3850NCharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Jun 29, 2022)		criteria provided, single submitter
34.
GRCh37:
Chr14:102463450
GRCh38:
Chr14:101997113
DYNC1H1E1215KCharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Aug 22, 2022)		criteria provided, single submitter
35.
GRCh37:
Chr14:102471034
GRCh38:
Chr14:102004697
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Jul 4, 2022)		criteria provided, single submitter
36.
GRCh37:
Chr14:102481480
GRCh38:
Chr14:102015143
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Aug 17, 2022)		criteria provided, single submitter
37.
GRCh37:
Chr14:102445827
GRCh38:
Chr14:101979490
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Oct 1, 2022)		criteria provided, single submitter
38.
GRCh37:
Chr14:102461565
GRCh38:
Chr14:101995228
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Oct 23, 2022)		criteria provided, single submitter
39.
GRCh37:
Chr14:102499614
GRCh38:
Chr14:102033277
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Feb 8, 2022)		criteria provided, single submitter
40.
GRCh37:
Chr14:102452925
GRCh38:
Chr14:101986588
DYNC1H1Y788CCharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Feb 22, 2022)		criteria provided, single submitter
41.
GRCh37:
Chr14:102470986-102470987
GRCh38:
Chr14:102004649-102004650
DYNC1H1V1672ACharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Feb 5, 2022)		criteria provided, single submitter
42.
GRCh37:
Chr14:102514858
GRCh38:
Chr14:102048521
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OUncertain significance
(Mar 7, 2022)		criteria provided, single submitter
43.
GRCh37:
Chr14:102466382
GRCh38:
Chr14:102000045
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Aug 19, 2022)		criteria provided, single submitter
44.
GRCh37:
Chr14:102484770
GRCh38:
Chr14:102018433
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Oct 27, 2022)		criteria provided, single submitter
45.
GRCh37:
Chr14:102477220
GRCh38:
Chr14:102010883
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Feb 28, 2022)		criteria provided, single submitter
46.
GRCh37:
Chr14:102463391
GRCh38:
Chr14:101997054
DYNC1H1R1195HCharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Jul 12, 2022)		criteria provided, single submitter
47.
GRCh37:
Chr14:102506917
GRCh38:
Chr14:102040580
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(May 27, 2022)		criteria provided, single submitter
48.
GRCh37:
Chr14:102431265
GRCh38:
Chr14:101964928
DYNC1H1not provided, Charcot-Marie-Tooth disease axonal type 2OConflicting interpretations of pathogenicity
(Nov 28, 2022)		criteria provided, conflicting interpretations
49.
GRCh37:
Chr14:102516160
GRCh38:
Chr14:102049823
DYNC1H1E4542GCharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Jan 11, 2022)		criteria provided, single submitter
50.
GRCh37:
Chr14:102495878
GRCh38:
Chr14:102029541
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Dec 24, 2021)		criteria provided, single submitter
51.
GRCh37:
Chr14:102506585
GRCh38:
Chr14:102040248
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Oct 13, 2022)		criteria provided, single submitter
52.
GRCh37:
Chr14:102452696
GRCh38:
Chr14:101986359
DYNC1H1G712SCharcot-Marie-Tooth disease axonal type 2OLikely benign
(Aug 7, 2022)		criteria provided, single submitter
53.
GRCh37:
Chr14:102493033
GRCh38:
Chr14:102026696
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(May 6, 2022)		criteria provided, single submitter
54.
GRCh37:
Chr14:102508800
GRCh38:
Chr14:102042463
DYNC1H1H4119NCharcot-Marie-Tooth disease axonal type 2OBenign
(Aug 21, 2022)		criteria provided, single submitter
55.
GRCh37:
Chr14:102449338
GRCh38:
Chr14:101983001
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Sep 23, 2022)		criteria provided, single submitter
56.
GRCh37:
Chr14:102505420
GRCh38:
Chr14:102039083
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Aug 7, 2022)		criteria provided, single submitter
57.
GRCh37:
Chr14:102496591
GRCh38:
Chr14:102030254
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Apr 21, 2022)		criteria provided, single submitter
58.
GRCh37:
Chr14:102516778
GRCh38:
Chr14:102050441
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Aug 3, 2022)		criteria provided, single submitter
59.
GRCh37:
Chr14:102461651
GRCh38:
Chr14:101995314
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OUncertain significance
(Mar 11, 2022)		criteria provided, single submitter
60.
GRCh37:
Chr14:102483089
GRCh38:
Chr14:102016752
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Jan 21, 2022)		criteria provided, single submitter
61.
GRCh37:
Chr14:102496150
GRCh38:
Chr14:102029813
DYNC1H1Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseasesBenign/Likely benign
(Aug 28, 2023)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr14:102466475
GRCh38:
Chr14:102000138
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Jan 26, 2022)		criteria provided, single submitter
63.
GRCh37:
Chr14:102452387
GRCh38:
Chr14:101986050
DYNC1H1I609VCharcot-Marie-Tooth disease axonal type 2OLikely pathogenic
(Sep 19, 2022)		criteria provided, single submitter
64.
GRCh37:
Chr14:102466474
GRCh38:
Chr14:102000137
DYNC1H1R1318Hnot provided, Charcot-Marie-Tooth disease axonal type 2OUncertain significance
(Dec 17, 2021)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr14:102502832
GRCh38:
Chr14:102036495
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Sep 23, 2022)		criteria provided, single submitter
66.
GRCh37:
Chr14:102452004
GRCh38:
Chr14:101985667
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Aug 21, 2022)		criteria provided, single submitter
67.
GRCh37:
Chr14:102510331
GRCh38:
Chr14:102043994
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Apr 24, 2022)		criteria provided, single submitter
68.
GRCh37:
Chr14:102461566
GRCh38:
Chr14:101995229
DYNC1H1D1165NCharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Dec 23, 2021)		criteria provided, single submitter
69.
GRCh37:
Chr14:102482217
GRCh38:
Chr14:102015880
DYNC1H1M2423VCharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Mar 3, 2022)		criteria provided, single submitter
70.
GRCh37:
Chr14:102500537
GRCh38:
Chr14:102034200
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Feb 22, 2022)		criteria provided, single submitter
71.
GRCh37:
Chr14:102449462
GRCh38:
Chr14:101983125
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Jul 9, 2022)		criteria provided, single submitter
72.
GRCh37:
Chr14:102455026
GRCh38:
Chr14:101988689
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Mar 1, 2022)		criteria provided, single submitter
73.
GRCh37:
Chr14:102452608
GRCh38:
Chr14:101986271
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Sep 19, 2022)		criteria provided, single submitter
74.
GRCh37:
Chr14:102483601
GRCh38:
Chr14:102017264
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Sep 23, 2022)		criteria provided, single submitter
75.
GRCh37:
Chr14:102505325
GRCh38:
Chr14:102038988
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(May 3, 2022)		criteria provided, single submitter
76.
GRCh37:
Chr14:102476164
GRCh38:
Chr14:102009827
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Jul 29, 2022)		criteria provided, single submitter
77.
GRCh37:
Chr14:102471260
GRCh38:
Chr14:102004923
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Feb 28, 2022)		criteria provided, single submitter
78.
GRCh37:
Chr14:102484899
GRCh38:
Chr14:102018562
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Sep 30, 2022)		criteria provided, single submitter
79.
GRCh37:
Chr14:102505735
GRCh38:
Chr14:102039398
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Apr 7, 2022)		criteria provided, single submitter
80.
GRCh37:
Chr14:102508632
GRCh38:
Chr14:102042295
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Sep 16, 2022)		criteria provided, single submitter
81.
GRCh37:
Chr14:102516046
GRCh38:
Chr14:102049709
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Oct 7, 2021)		criteria provided, single submitter
82.
GRCh37:
Chr14:102467958
GRCh38:
Chr14:102001621
DYNC1H1F1494LCharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Feb 20, 2022)		criteria provided, single submitter
83.
GRCh37:
Chr14:102452209
GRCh38:
Chr14:101985872
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(May 25, 2022)		criteria provided, single submitter
84.
GRCh37:
Chr14:102500360
GRCh38:
Chr14:102034023
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Aug 30, 2022)		criteria provided, single submitter
85.
GRCh37:
Chr14:102469051
GRCh38:
Chr14:102002714
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Apr 9, 2022)		criteria provided, single submitter
86.
GRCh37:
Chr14:102467518
GRCh38:
Chr14:102001181
DYNC1H1L1408VCharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Apr 9, 2022)		criteria provided, single submitter
87.
GRCh37:
Chr14:102483165
GRCh38:
Chr14:102016828
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Sep 27, 2022)		criteria provided, single submitter
88.
GRCh37:
Chr14:102476410
GRCh38:
Chr14:102010073
DYNC1H1V2070ICharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Sep 15, 2022)		criteria provided, single submitter
89.
GRCh37:
Chr14:102460993
GRCh38:
Chr14:101994656
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Aug 19, 2022)		criteria provided, single submitter
90.
GRCh37:
Chr14:102482691
GRCh38:
Chr14:102016354
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Feb 5, 2022)		criteria provided, single submitter
91.
GRCh37:
Chr14:102510623
GRCh38:
Chr14:102044286
DYNC1H1I4233VCharcot-Marie-Tooth disease axonal type 2OLikely benign
(Mar 28, 2022)		criteria provided, single submitter
92.
GRCh37:
Chr14:102499713
GRCh38:
Chr14:102033376
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Aug 8, 2022)		criteria provided, single submitter
93.
GRCh37:
Chr14:102449832
GRCh38:
Chr14:101983495
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Aug 10, 2022)		criteria provided, single submitter
94.
GRCh37:
Chr14:102481639
GRCh38:
Chr14:102015302
DYNC1H1E2404DCharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Mar 23, 2022)		criteria provided, single submitter
95.
GRCh37:
Chr14:102495856
GRCh38:
Chr14:102029519
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Jul 19, 2022)		criteria provided, single submitter
96.
GRCh37:
Chr14:102486224
GRCh38:
Chr14:102019887
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Aug 20, 2022)		criteria provided, single submitter
97.
GRCh37:
Chr14:102449528
GRCh38:
Chr14:101983191
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Jun 27, 2022)		criteria provided, single submitter
98.
GRCh37:
Chr14:102505318
GRCh38:
Chr14:102038981
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Jul 6, 2022)		criteria provided, single submitter
99.
GRCh37:
Chr14:102449796
GRCh38:
Chr14:101983459
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Apr 9, 2022)		criteria provided, single submitter
100.
GRCh37:
Chr14:102477103
GRCh38:
Chr14:102010766
DYNC1H1Charcot-Marie-Tooth disease axonal type 2OLikely benign
(Aug 8, 2022)		criteria provided, single submitter
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