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Items: 1 to 100 of 152

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
VPS13AChoreoacanthocytosisPathogenic
(Jul 1, 2011)
no assertion criteria provided
2.
VPS13AChoreoacanthocytosisPathogenic
(Nov 1, 2007)
no assertion criteria provided
3.
VPS13AChoreoacanthocytosisPathogenic
(Sep 1, 2005)
no assertion criteria provided
4.
VPS13AChoreoacanthocytosisPathogenic
(Apr 1, 2005)
no assertion criteria provided
5.
VPS13AChoreoacanthocytosisPathogenic
(Apr 1, 2005)
no assertion criteria provided
6.
VPS13AChoreoacanthocytosisPathogenic
(Jul 1, 2011)
no assertion criteria provided
7.
VPS13AChoreoacanthocytosisPathogenic
(Jun 1, 2001)
no assertion criteria provided
8.
VPS13AChoreoacanthocytosisPathogenic
(Jun 1, 2001)
no assertion criteria provided
9.
GRCh37:
Chr9:79792389
GRCh38:
Chr9:77177473
VPS13A, VPS13A-AS1ChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr9:79792438
GRCh38:
Chr9:77177522
VPS13A, VPS13A-AS1ChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr9:79792440
GRCh38:
Chr9:77177524
VPS13A, VPS13A-AS1ChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr9:79792463
GRCh38:
Chr9:77177547
VPS13A, VPS13A-AS1ChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr9:79792471
GRCh38:
Chr9:77177555
VPS13A, VPS13A-AS1ChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr9:79792473
GRCh38:
Chr9:77177557
VPS13A, VPS13A-AS1ChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr9:79814847
GRCh38:
Chr9:77199931
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr9:79816295
GRCh38:
Chr9:77201379
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr9:79820310
GRCh38:
Chr9:77205394
VPS13AChoreoacanthocytosisPathogenic
(Jun 1, 2001)
no assertion criteria provided
18.
GRCh37:
Chr9:79820344
GRCh38:
Chr9:77205428
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr9:79820905-79820907
GRCh38:
Chr9:77205989-77205991
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr9:79828156
GRCh38:
Chr9:77213240
VPS13AChoreoacanthocytosisPathogenic
(Nov 1, 2002)
no assertion criteria provided
21.
GRCh37:
Chr9:79834890
GRCh38:
Chr9:77219974
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr9:79834914
GRCh38:
Chr9:77219998
VPS13Anot providedPathogenic
(Dec 5, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr9:79835237
GRCh38:
Chr9:77220321
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr9:79835291
GRCh38:
Chr9:77220375
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr9:79835327
GRCh38:
Chr9:77220411
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr9:79836131
GRCh38:
Chr9:77221215
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr9:79836172
GRCh38:
Chr9:77221256
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr9:79841460
GRCh38:
Chr9:77226544
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr9:79842345
GRCh38:
Chr9:77227429
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr9:79843023
GRCh38:
Chr9:77228107
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr9:79852908-79852910
GRCh38:
Chr9:77237992-77237994
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr9:79853066
GRCh38:
Chr9:77238150
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr9:79853080
GRCh38:
Chr9:77238164
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr9:79853194
GRCh38:
Chr9:77238278
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr9:79853311
GRCh38:
Chr9:77238395
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr9:79862319
GRCh38:
Chr9:77247403
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr9:79865099
GRCh38:
Chr9:77250183
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr9:79865158
GRCh38:
Chr9:77250242
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr9:79867155
GRCh38:
Chr9:77252239
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr9:79867181
GRCh38:
Chr9:77252265
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr9:79867220
GRCh38:
Chr9:77252304
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr9:79875104
GRCh38:
Chr9:77260188
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr9:79888208
GRCh38:
Chr9:77273292
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr9:79890579
GRCh38:
Chr9:77275663
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr9:79891031
GRCh38:
Chr9:77276115
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr9:79896855
GRCh38:
Chr9:77281939
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr9:79897117
GRCh38:
Chr9:77282201
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr9:79897155
GRCh38:
Chr9:77282239
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr9:79897180
GRCh38:
Chr9:77282264
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr9:79898509
GRCh38:
Chr9:77283593
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr9:79908252-79908254
GRCh38:
Chr9:77293336-77293338
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr9:79910595
GRCh38:
Chr9:77295679
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr9:79910656
GRCh38:
Chr9:77295740
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr9:79917825
GRCh38:
Chr9:77302909
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr9:79917907
GRCh38:
Chr9:77302991
VPS13Anot providedPathogenic
(Dec 5, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr9:79922855
GRCh38:
Chr9:77307939
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr9:79922855
GRCh38:
Chr9:77307939
VPS13AChoreoacanthocytosisBenign
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr9:79922941
GRCh38:
Chr9:77308025
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr9:79929558
GRCh38:
Chr9:77314642
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr9:79930225
GRCh38:
Chr9:77315309
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr9:79930265
GRCh38:
Chr9:77315349
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr9:79932567
GRCh38:
Chr9:77317651
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr9:79932585
GRCh38:
Chr9:77317669
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr9:79932615
GRCh38:
Chr9:77317699
VPS13Anot providedPathogenic
(Mar 31, 2017)
criteria provided, single submitter
65.
GRCh37:
Chr9:79933173
GRCh38:
Chr9:77318257
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr9:79933486
GRCh38:
Chr9:77318570
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr9:79936415
GRCh38:
Chr9:77321499
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr9:79936557
GRCh38:
Chr9:77321641
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr9:79936579
GRCh38:
Chr9:77321663
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr9:79936618
GRCh38:
Chr9:77321702
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr9:79936627
GRCh38:
Chr9:77321711
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr9:79936634
GRCh38:
Chr9:77321718
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr9:79938036
GRCh38:
Chr9:77323120
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr9:79946961
GRCh38:
Chr9:77332045
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr9:79947008
GRCh38:
Chr9:77332092
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
76.
GRCh37:
Chr9:79952206
GRCh38:
Chr9:77337290
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr9:79952468
GRCh38:
Chr9:77337552
VPS13AChoreoacanthocytosisBenign
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr9:79954420
GRCh38:
Chr9:77339504
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr9:79954463
GRCh38:
Chr9:77339547
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr9:79954545
GRCh38:
Chr9:77339629
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr9:79954644
GRCh38:
Chr9:77339728
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr9:79955314
GRCh38:
Chr9:77340398
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
83.
GRCh37:
Chr9:79955346
GRCh38:
Chr9:77340430
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr9:79959086
GRCh38:
Chr9:77344170
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr9:79959120
GRCh38:
Chr9:77344204
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr9:79959138
GRCh38:
Chr9:77344222
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr9:79959197
GRCh38:
Chr9:77344281
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr9:79959211
GRCh38:
Chr9:77344295
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr9:79960000
GRCh38:
Chr9:77345084
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr9:79960006
GRCh38:
Chr9:77345090
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
91.
GRCh37:
Chr9:79968362
GRCh38:
Chr9:77353446
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr9:79968395
GRCh38:
Chr9:77353479
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
93.
GRCh37:
Chr9:79971692
GRCh38:
Chr9:77356776
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
94.
GRCh37:
Chr9:79971789
GRCh38:
Chr9:77356873
VPS13AChoreoacanthocytosisLikely benign
(Jun 14, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr9:79972612
GRCh38:
Chr9:77357696
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr9:79975486
GRCh38:
Chr9:77360570
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr9:79975503
GRCh38:
Chr9:77360587
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr9:79975555
GRCh38:
Chr9:77360639
VPS13Anot providedLikely pathogenic
(Feb 9, 2017)
criteria provided, single submitter
99.
GRCh37:
Chr9:79980361
GRCh38:
Chr9:77365445
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr9:79980392
GRCh38:
Chr9:77365476
VPS13AChoreoacanthocytosisUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
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