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Items: 1 to 100 of 381

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr12:124196600-124196601
GRCh38:
Chr12:123712053-123712054
ATP6V0A2not providedLikely benign
(Jun 19, 2018)
criteria provided, single submitterVCV001197039
2.
GRCh37:
Chr12:124196600-124196601
GRCh38:
Chr12:123712053-123712054
ATP6V0A2not providedLikely benign
(Aug 17, 2018)
criteria provided, single submitterVCV001193378
3.
GRCh37:
Chr12:124196602-124196603
GRCh38:
Chr12:123712055-123712056
ATP6V0A2not providedBenign
(Jun 28, 2018)
criteria provided, single submitterVCV001280269
4.
GRCh37:
Chr12:124196602-124196603
GRCh38:
Chr12:123712055-123712056
ATP6V0A2not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001206994
5.
GRCh37:
Chr12:124196602-124196603
GRCh38:
Chr12:123712055-123712056
ATP6V0A2not providedLikely benign
(Jun 19, 2018)
criteria provided, single submitterVCV001191074
6.
GRCh37:
Chr12:124196602
GRCh38:
Chr12:123712055
ATP6V0A2not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000669870
7.
GRCh37:
Chr12:124196604
GRCh38:
Chr12:123712057
ATP6V0A2not providedBenign
(Aug 10, 2019)
criteria provided, single submitterVCV001249327
8.
GRCh37:
Chr12:124196606
GRCh38:
Chr12:123712059
ATP6V0A2not providedBenign
(Aug 10, 2019)
criteria provided, single submitterVCV001277865
9.
GRCh37:
Chr12:124196606-124196607
GRCh38:
Chr12:123712059-123712060
ATP6V0A2not providedLikely benign
(Dec 10, 2019)
criteria provided, single submitterVCV001212066
10.
GRCh37:
Chr12:124196606-124196607
GRCh38:
Chr12:123712059-123712060
ATP6V0A2not providedLikely benign
(Oct 28, 2019)
criteria provided, single submitterVCV001194513
11.
GRCh37:
Chr12:124196606-124196607
GRCh38:
Chr12:123712059-123712060
ATP6V0A2not providedLikely benign
(Dec 10, 2019)
criteria provided, single submitterVCV001191205
12.
GRCh37:
Chr12:124196614
GRCh38:
Chr12:123712067
ATP6V0A2not providedBenign
(Aug 10, 2019)
criteria provided, single submitterVCV001180031
13.
GRCh37:
Chr12:124196623-124196624
GRCh38:
Chr12:123712076-123712077
ATP6V0A2not providedLikely benign
(Nov 14, 2019)
criteria provided, single submitterVCV001219271
14.
GRCh37:
Chr12:124196623-124196624
GRCh38:
Chr12:123712076-123712077
ATP6V0A2not providedLikely benign
(Aug 18, 2019)
criteria provided, single submitterVCV001207961
15.
GRCh37:
Chr12:124196623-124196624
GRCh38:
Chr12:123712076-123712077
ATP6V0A2not providedLikely benign
(Sep 29, 2019)
criteria provided, single submitterVCV001187077
16.
GRCh37:
Chr12:124196669
GRCh38:
Chr12:123712122
ATP6V0A2not providedLikely benign
(Jul 26, 2018)
criteria provided, single submitterVCV001199869
17.
GRCh37:
Chr12:124196706
GRCh38:
Chr12:123712159
ATP6V0A2not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000669664
18.
GRCh37:
Chr12:124196713
GRCh38:
Chr12:123712166
ATP6V0A2not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000669665
19.
GRCh37:
Chr12:124196714
GRCh38:
Chr12:123712167
ATP6V0A2not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000676294
20.
GRCh37:
Chr12:124196735
GRCh38:
Chr12:123712188
ATP6V0A2not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000676231
21.
GRCh37:
Chr12:124196818
GRCh38:
Chr12:123712271
ATP6V0A2not providedLikely benign
(Sep 7, 2018)
criteria provided, single submitterVCV001213650
22.
GRCh37:
Chr12:124196849
GRCh38:
Chr12:123712302
ATP6V0A2not providedBenign
(Jul 8, 2018)
criteria provided, single submitterVCV001298082
23.
GRCh37:
Chr12:124196870
GRCh38:
Chr12:123712323
ATP6V0A2Cutis laxa, recessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000307571
24.
GRCh37:
Chr12:124196886
GRCh38:
Chr12:123712339
ATP6V0A2Cutis laxa, recessive, not providedLikely benign
(Jun 16, 2018)
criteria provided, multiple submitters, no conflictsVCV000307572
25.
GRCh37:
Chr12:124196943
GRCh38:
Chr12:123712396
ATP6V0A2Cutis laxa, recessive, Cutis laxa with osteodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307574
26.
GRCh37:
Chr12:124196965
GRCh38:
Chr12:123712418
ATP6V0A2Cutis laxa with osteodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307575
27.
GRCh37:
Chr12:124196996
GRCh38:
Chr12:123712449
ATP6V0A2Cutis laxa with osteodystrophyLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000307576
28.
GRCh37:
Chr12:124196999
GRCh38:
Chr12:123712452
ATP6V0A2Cutis laxa with osteodystrophyUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000881884
29.
GRCh37:
Chr12:124197130
GRCh38:
Chr12:123712583
ATP6V0A2ALG9 congenital disorder of glycosylationLikely benign
(Oct 6, 2020)
criteria provided, single submitterVCV001090979
30.
GRCh37:
Chr12:124197138
GRCh38:
Chr12:123712591
ATP6V0A2T9Inot provided, Cutis laxa with osteodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, multiple submitters, no conflictsVCV000425021
31.
GRCh37:
Chr12:124197145
GRCh38:
Chr12:123712598
ATP6V0A2ALG9 congenital disorder of glycosylationLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000776772
32.
GRCh37:
Chr12:124197177
GRCh38:
Chr12:123712630
ATP6V0A2A22Vnot providedUncertain significance
(Oct 1, 2019)
criteria provided, single submitterVCV000871742
33.
GRCh37:
Chr12:124197189-124197190
GRCh38:
Chr12:123712642-123712643
ATP6V0A2S27fsALG9 congenital disorder of glycosylation, not providedPathogenic
(Mar 5, 2018)
criteria provided, multiple submitters, no conflictsVCV000286400
34.
GRCh37:
Chr12:124197201
GRCh38:
Chr12:123712654
ATP6V0A2G30DCutis laxa with osteodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000881885
35.
GRCh37:
Chr12:124197243
GRCh38:
Chr12:123712696
ATP6V0A2not provided, Cutis laxa with osteodystrophyBenign
(Apr 25, 2018)
criteria provided, multiple submitters, no conflictsVCV000385242
36.
GRCh37:
Chr12:124197246-124197249
GRCh38:
Chr12:123712699-123712702
ATP6V0A2not specifiedLikely benign
(May 24, 2017)
criteria provided, single submitterVCV000509956
37.
GRCh37:
Chr12:124197280
GRCh38:
Chr12:123712733
ATP6V0A2not providedBenign
(Jun 23, 2018)
criteria provided, single submitterVCV001250031
38.
GRCh37:
Chr12:124197310
GRCh38:
Chr12:123712763
ATP6V0A2not providedLikely benign
(Nov 10, 2018)
criteria provided, single submitterVCV001217128
39.
GRCh37:
Chr12:124203097
GRCh38:
Chr12:123718550
ATP6V0A2not providedLikely benign
(Jun 16, 2018)
criteria provided, single submitterVCV000677551
40.
GRCh37:
Chr12:124203163-124203167
GRCh38:
Chr12:123718616-123718620
ATP6V0A2not providedConflicting interpretations of pathogenicity
(Aug 7, 2019)
criteria provided, conflicting interpretationsVCV000594101
41.
GRCh37:
Chr12:124203239
GRCh38:
Chr12:123718692
ATP6V0A2R63*not provided, Cutis laxa with osteodystrophyPathogenic
(Aug 30, 2013)
criteria provided, single submitterVCV000000845
42.
GRCh37:
Chr12:124203245
GRCh38:
Chr12:123718698
ATP6V0A2L65fsnot providedPathogenic
(Jan 28, 2020)
criteria provided, single submitterVCV001218839
43.
GRCh37:
Chr12:124203263
GRCh38:
Chr12:123718716
ATP6V0A2not specifiedLikely benign
(Dec 26, 2017)
criteria provided, single submitterVCV000514198
44.
GRCh37:
Chr12:124203414-124203415
GRCh38:
Chr12:123718867-123718868
ATP6V0A2not providedBenign
(Jul 7, 2018)
criteria provided, single submitterVCV001224686
45.
GRCh37:
Chr12:124203483
GRCh38:
Chr12:123718936
ATP6V0A2not providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001225878
46.
GRCh37:
Chr12:124206615
GRCh38:
Chr12:123722068
ATP6V0A2not providedLikely benign
(Nov 10, 2018)
criteria provided, single submitterVCV001201128
47.
GRCh37:
Chr12:124206635
GRCh38:
Chr12:123722088
ATP6V0A2not providedLikely benign
(Jul 14, 2018)
criteria provided, single submitterVCV001193821
48.
GRCh37:
Chr12:124206935
GRCh38:
Chr12:123722388
ATP6V0A2not providedLikely benign
(Jul 31, 2018)
criteria provided, single submitterVCV000761095
49.
GRCh37:
Chr12:124206938
GRCh38:
Chr12:123722391
ATP6V0A2not providedLikely benign
(Jun 26, 2017)
criteria provided, single submitterVCV000706498
50.
GRCh37:
Chr12:124206965
GRCh38:
Chr12:123722418
ATP6V0A2ALG9 congenital disorder of glycosylationLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000799876
51.
GRCh37:
Chr12:124206965
GRCh38:
Chr12:123722418
ATP6V0A2ALG9 congenital disorder of glycosylation, Cutis laxa with osteodystrophy, not provided
Conflicting interpretations of pathogenicity
(Sep 24, 2020)
criteria provided, conflicting interpretationsVCV000498312
52.
GRCh37:
Chr12:124206965
GRCh38:
Chr12:123722418
ATP6V0A2Cutis laxa with osteodystrophy, not providedConflicting interpretations of pathogenicity
(Jan 13, 2021)
criteria provided, conflicting interpretationsVCV000307577
53.
GRCh37:
Chr12:124206996
GRCh38:
Chr12:123722449
ATP6V0A2Cutis laxa with osteodystrophy, Wrinkly skin syndromePathogenic
(Dec 30, 2017)
no assertion criteria providedVCV000021499
54.
GRCh37:
Chr12:124207098
GRCh38:
Chr12:123722551
ATP6V0A2Cutis laxa with osteodystrophy, Wrinkly skin syndrome, not provided
Benign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflictsVCV001183408
55.
GRCh37:
Chr12:124207209
GRCh38:
Chr12:123722662
ATP6V0A2not providedBenign
(Jun 23, 2018)
criteria provided, single submitterVCV001249838
56.
GRCh37:
Chr12:124207212
GRCh38:
Chr12:123722665
ATP6V0A2not providedBenign
(Jun 23, 2018)
criteria provided, single submitterVCV001230013
57.
GRCh37:
Chr12:124208917
GRCh38:
Chr12:123724370
ATP6V0A2not providedBenign
(Jun 18, 2018)
criteria provided, single submitterVCV000683166
58.
GRCh37:
Chr12:124208936
GRCh38:
Chr12:123724389
ATP6V0A2not providedLikely benign
(Jul 27, 2018)
criteria provided, single submitterVCV001198966
59.
GRCh37:
Chr12:124209011
GRCh38:
Chr12:123724464
ATP6V0A2not providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001227635
60.
GRCh37:
Chr12:124209075-124209076
GRCh38:
Chr12:123724528-123724529
ATP6V0A2not providedBenign
(Oct 22, 2019)
criteria provided, single submitterVCV001248711
61.
GRCh37:
Chr12:124209076
GRCh38:
Chr12:123724529
ATP6V0A2not providedLikely benign
(Jan 28, 2020)
criteria provided, single submitterVCV001193057
62.
GRCh37:
Chr12:124209184
GRCh38:
Chr12:123724637
ATP6V0A2not specifiedLikely benign
(Apr 11, 2017)
criteria provided, single submitterVCV000508871
63.
GRCh37:
Chr12:124209210
GRCh38:
Chr12:123724663
ATP6V0A2Q102*not providedPathogenic
(Jul 17, 2014)
criteria provided, single submitterVCV000197291
64.
GRCh37:
Chr12:124209215
GRCh38:
Chr12:123724668
ATP6V0A2K103NALG9 congenital disorder of glycosylation, not specified, Wrinkly skin syndrome,
Cutis laxa with osteodystrophy, not provided, Cutis laxa with osteodystrophy
Uncertain significance
(May 6, 2021)
criteria provided, multiple submitters, no conflictsVCV000307578
65.
GRCh37:
Chr12:124209218
GRCh38:
Chr12:123724671
ATP6V0A2not provided, Cutis laxa with osteodystrophyConflicting interpretations of pathogenicity
(May 24, 2019)
criteria provided, conflicting interpretationsVCV000307579
66.
GRCh37:
Chr12:124209259-124209260
GRCh38:
Chr12:123724712-123724713
ATP6V0A2L118fsCutis laxa with osteodystrophyPathogenic
(Sep 23, 2010)
no assertion criteria providedVCV000021500
67.
GRCh37:
Chr12:124209294
GRCh38:
Chr12:123724747
ATP6V0A2H130Ynot providedUncertain significance
(Aug 15, 2018)
criteria provided, single submitterVCV000423619
68.
GRCh37:
Chr12:124209328
GRCh38:
Chr12:123724781
ATP6V0A2R141Hnot providedUncertain significance
(Nov 12, 2019)
criteria provided, single submitterVCV001303408
69.
GRCh37:
Chr12:124209328
GRCh38:
Chr12:123724781
ATP6V0A2R141LCutis laxa with osteodystrophy, Wrinkly skin syndrome, not specified,
not provided, Cutis laxa with osteodystrophy
Uncertain significance
(Jun 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000390767
70.
GRCh37:
Chr12:124209332
GRCh38:
Chr12:123724785
ATP6V0A2not specified, Cutis laxa with osteodystrophy, Wrinkly skin syndrome,
ALG9 congenital disorder of glycosylation
Benign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflictsVCV000095523
71.
GRCh37:
Chr12:124209350
GRCh38:
Chr12:123724803
ATP6V0A2not providedLikely benign
(Apr 4, 2018)
criteria provided, single submitterVCV000681546
72.
GRCh37:
Chr12:124209352
GRCh38:
Chr12:123724805
ATP6V0A2not specified, ALG9 congenital disorder of glycosylation, Wrinkly skin syndrome,
Cutis laxa with osteodystrophy
Benign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflictsVCV000095524
73.
GRCh37:
Chr12:124209568
GRCh38:
Chr12:123725021
ATP6V0A2not providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001298118
74.
GRCh37:
Chr12:124209589
GRCh38:
Chr12:123725042
ATP6V0A2not providedLikely benign
(Nov 10, 2018)
criteria provided, single submitterVCV001201103
75.
GRCh37:
Chr12:124210549
GRCh38:
Chr12:123726002
ATP6V0A2not providedBenign
(Jun 23, 2018)
criteria provided, single submitterVCV001245614
76.
GRCh37:
Chr12:124210574
GRCh38:
Chr12:123726027
ATP6V0A2not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000678919
77.
GRCh37:
Chr12:124210627
GRCh38:
Chr12:123726080
ATP6V0A2not providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001292550
78.
GRCh37:
Chr12:124210684
GRCh38:
Chr12:123726137
ATP6V0A2not providedLikely benign
(Jul 27, 2018)
criteria provided, single submitterVCV001195667
79.
GRCh37:
Chr12:124210746
GRCh38:
Chr12:123726199
ATP6V0A2F145Lnot providedUncertain significance
(Apr 5, 2019)
criteria provided, single submitterVCV001308312
80.
GRCh37:
Chr12:124210751
GRCh38:
Chr12:123726204
ATP6V0A2P147LCutis laxa with osteodystrophy, not providedUncertain significance
(Jun 9, 2020)
criteria provided, multiple submitters, no conflictsVCV000883835
81.
GRCh37:
Chr12:124210758
GRCh38:
Chr12:123726211
ATP6V0A2Cutis laxa with osteodystrophy, not providedConflicting interpretations of pathogenicity
(Jan 27, 2021)
criteria provided, conflicting interpretationsVCV000676662
82.
GRCh37:
Chr12:124210782
GRCh38:
Chr12:123726235
ATP6V0A2not specified, Wrinkly skin syndrome, Cutis laxa with osteodystrophy,
ALG9 congenital disorder of glycosylation
Benign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflictsVCV000095525
83.
GRCh37:
Chr12:124210793
GRCh38:
Chr12:123726246
ATP6V0A2L161Wnot providedUncertain significance
(Mar 29, 2017)
criteria provided, single submitterVCV000445529
84.
GRCh37:
Chr12:124210826
GRCh38:
Chr12:123726279
ATP6V0A2K172RALG9 congenital disorder of glycosylation, not providedUncertain significance
(Mar 18, 2020)
criteria provided, multiple submitters, no conflictsVCV000392359
85.
GRCh37:
Chr12:124210846
GRCh38:
Chr12:123726299
ATP6V0A2not providedLikely benign
(Apr 19, 2018)
criteria provided, single submitterVCV000682219
86.
GRCh37:
Chr12:124210846
GRCh38:
Chr12:123726299
ATP6V0A2not specifiedLikely benign
(Sep 27, 2017)
criteria provided, single submitterVCV000512330
87.
GRCh37:
Chr12:124210849
GRCh38:
Chr12:123726302
ATP6V0A2not specifiedLikely benign
(Jul 24, 2017)
criteria provided, single submitterVCV000510888
88.
GRCh37:
Chr12:124210872
GRCh38:
Chr12:123726325
ATP6V0A2not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001198432
89.
GRCh37:
Chr12:124212024
GRCh38:
Chr12:123727477
ATP6V0A2not providedLikely benign
(Aug 3, 2018)
criteria provided, single submitterVCV001213486
90.
GRCh37:
Chr12:124212046
GRCh38:
Chr12:123727499
ATP6V0A2not providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001252578
91.
GRCh37:
Chr12:124212171
GRCh38:
Chr12:123727624
ATP6V0A2not providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001292920
92.
GRCh37:
Chr12:124212281
GRCh38:
Chr12:123727734
ATP6V0A2not providedBenign
(Jun 26, 2018)
criteria provided, single submitterVCV001292246
93.
GRCh37:
Chr12:124212315
GRCh38:
Chr12:123727768
ATP6V0A2not providedLikely benign
(Apr 13, 2021)
criteria provided, single submitterVCV000421058
94.
GRCh37:
Chr12:124212321
GRCh38:
Chr12:123727774
ATP6V0A2not provided, Cutis laxa with osteodystrophyConflicting interpretations of pathogenicity
(Apr 13, 2018)
criteria provided, conflicting interpretationsVCV000284399
95.
GRCh37:
Chr12:124212342
GRCh38:
Chr12:123727795
ATP6V0A2Cutis laxa with osteodystrophyPathogeniccriteria provided, single submitterVCV000996059
96.
GRCh37:
Chr12:124212347
GRCh38:
Chr12:123727800
ATP6V0A2I180Tnot providedUncertain significance
(Jul 30, 2020)
criteria provided, single submitterVCV001190639
97.
GRCh37:
Chr12:124212356
GRCh38:
Chr12:123727809
ATP6V0A2G183Enot specifiedUncertain significance
(Dec 3, 2015)
criteria provided, single submitterVCV000434446
98.
GRCh37:
Chr12:124212384
GRCh38:
Chr12:123727837
ATP6V0A2L192Fnot providedUncertain significance
(Oct 4, 2019)
criteria provided, single submitterVCV001308990
99.
GRCh37:
Chr12:124212396
GRCh38:
Chr12:123727849
ATP6V0A2C196Wnot providedUncertain significance
(Sep 11, 2017)
criteria provided, single submitterVCV000451928
100.
GRCh37:
Chr12:124212411
GRCh38:
Chr12:123727864
ATP6V0A2Cutis laxa with osteodystrophyUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000078884
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