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Items: 1 to 100 of 148260

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:977059-977105
GRCh38:
Chr1:1041679-1041725
AGRNMyasthenic syndrome, congenital, 8Likely pathogenic
(Oct 24, 2018)
criteria provided, single submitterVCV000930633
2.
GRCh37:
Chr1:978577
GRCh38:
Chr1:1043197
AGRNMyasthenic syndrome, congenital, 8Pathogenic
(Sep 22, 2021)
no assertion criteria providedVCV001284256
3.
GRCh37:
Chr1:978741
GRCh38:
Chr1:1043361
AGRNG503S, G398Snot providedUncertain significance
(Jun 1, 2018)
criteria provided, single submitterVCV000623664
4.
GRCh37:
Chr1:981166
GRCh38:
Chr1:1045786
AGRNG864R, G759Rnot providedUncertain significance
(Jun 1, 2020)
criteria provided, single submitterVCV000932316
5.
GRCh37:
Chr1:981328
GRCh38:
Chr1:1045948
AGRNnot specifiedLikely benigncriteria provided, single submitterVCV000263175
6.
GRCh37:
Chr1:982059
GRCh38:
Chr1:1046679
AGRNG1065E, G960Enot providedUncertain significance
(May 1, 2016)
criteria provided, single submitterVCV000806027
7.
GRCh37:
Chr1:982356
GRCh38:
Chr1:1046976
AGRNnot specifiedLikely benigncriteria provided, single submitterVCV000263180
8.
GRCh37:
Chr1:983004
GRCh38:
Chr1:1047624
AGRNR1190S, R1085Snot providedUncertain significance
(Jul 1, 2019)
criteria provided, single submitterVCV000872688
9.
GRCh37:
Chr1:985076
GRCh38:
Chr1:1049696
AGRNG1444R, G1549Rnot providedUncertain significance
(Sep 1, 2018)
criteria provided, single submitterVCV000806028
10.
GRCh37:
Chr1:985434
GRCh38:
Chr1:1050054
AGRNnot specifiedLikely benigncriteria provided, single submitterVCV000263190
11.
GRCh37:
Chr1:985449
GRCh38:
Chr1:1050069
AGRNnot specified, not providedBenign
(Aug 28, 2019)
criteria provided, multiple submitters, no conflictsVCV000263192
12.
GRCh37:
Chr1:985829
GRCh38:
Chr1:1050449
AGRNV1562M, V1667MMyasthenic syndrome, congenital, 8Pathogenic
(Sep 22, 2021)
no assertion criteria providedVCV001284257
13.
GRCh37:
Chr1:990277
GRCh38:
Chr1:1054897
AGRNnot specifiedLikely benigncriteria provided, single submitterVCV000263201
14.
GRCh37:
Chr1:1167996
GRCh38:
Chr1:1232616
B3GALT6Q113Rnot providedUncertain significance
(Mar 1, 2017)
criteria provided, single submitterVCV000424885
15.
GRCh37:
Chr1:1168334-1168335
GRCh38:
Chr1:1232954-1232955
B3GALT6not providedUncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV001012718
16.
GRCh37:
Chr1:1168334
GRCh38:
Chr1:1232954
B3GALT6H226Ynot providedUncertain significance
(Oct 1, 2017)
criteria provided, single submitterVCV000806029
17.
GRCh37:
Chr1:1168339
GRCh38:
Chr1:1232959
B3GALT6Y227*not providedLikely pathogenic
(Jul 1, 2019)
criteria provided, single submitterVCV000806030
18.
GRCh37:
Chr1:1168351
GRCh38:
Chr1:1232971
B3GALT6S231Rnot providedUncertain significance
(Jul 1, 2019)
criteria provided, single submitterVCV000806031
19.
GRCh37:
Chr1:1271515-1271532
GRCh38:
Chr1:1336135-1336152
DVL1Robinow syndrome, autosomal dominant 1Uncertain significance
(Sep 23, 2019)
criteria provided, single submitterVCV000931592
20.
GRCh37:
Chr1:1271605
GRCh38:
Chr1:1336225
DVL1V644I, V669Inot providedUncertain significance
(Nov 30, 2019)
criteria provided, single submitterVCV001224346
21.
GRCh37:
Chr1:1271833
GRCh38:
Chr1:1336453
DVL1R568W, R593Wnot providedUncertain significance
(Aug 28, 2017)
criteria provided, single submitterVCV000445443
22.
GRCh37:
Chr1:1273387-1273388
GRCh38:
Chr1:1338007-1338008
DVL1S537fs, S562fsRobinow syndrome, autosomal dominant 1Likely pathogenic
(Aug 9, 2019)
criteria provided, single submitterVCV000931630
23.
GRCh37:
Chr1:1273564-1273648
GRCh38:
Chr1:1338184-1338268
DVL1not providednot providedno assertion providedVCV000208189
24.
GRCh37:
Chr1:1273963
GRCh38:
Chr1:1338583
DVL1not providedLikely benign
(Jun 1, 2021)
criteria provided, single submitterVCV001176490
25.
GRCh37:
Chr1:1284281
GRCh38:
Chr1:1348901
DVL1D55Enot providedUncertain significance
(Dec 30, 2019)
criteria provided, single submitterVCV001224407
26.
GRCh37:
Chr1:1372416-1372439
GRCh38:
Chr1:1437036-1437059
VWA1NeuromyopathyLikely pathogenic
(Jan 1, 2020)
no assertion criteria providedVCV000830329
27.
GRCh37:
Chr1:1451420
GRCh38:
Chr1:1516040
ATAD3Anot providedUncertain significance
(Apr 1, 2021)
criteria provided, single submitterVCV001176491
28.
GRCh37:
Chr1:1452706
GRCh38:
Chr1:1517326
ATAD3AV100M, V148M, V21Mnot providedLikely benign
(Aug 1, 2021)
criteria provided, single submitterVCV001298395
29.
GRCh37:
Chr1:1452768
GRCh38:
Chr1:1517388
ATAD3Anot providedLikely benign
(Nov 1, 2020)
criteria provided, single submitterVCV001012719
30.
GRCh37:
Chr1:1452792
GRCh38:
Chr1:1517412
ATAD3Anot providedLikely benign
(May 1, 2021)
criteria provided, single submitterVCV001176492
31.
GRCh37:
Chr1:1452793
GRCh38:
Chr1:1517413
ATAD3Anot providedLikely pathogenic
(Oct 23, 2020)
criteria provided, single submitterVCV000986833
32.
GRCh37:
Chr1:1453130
GRCh38:
Chr1:1517750
ATAD3AR61H, R188H, R140Hnot providedUncertain significance
(Oct 1, 2018)
criteria provided, single submitterVCV000806032
33.
GRCh37:
Chr1:1455577
GRCh38:
Chr1:1520197
ATAD3AA191T, A112T, A239Tnot providedUncertain significance
(Oct 1, 2018)
criteria provided, single submitterVCV000806033
34.
GRCh37:
Chr1:1458165
GRCh38:
Chr1:1522785
ATAD3Anot providedLikely benign
(May 1, 2021)
criteria provided, single submitterVCV001176493
35.
GRCh37:
Chr1:1458912
GRCh38:
Chr1:1523532
ATAD3AR231*, R310*, R358*not providedLikely pathogenic
(Sep 1, 2021)
criteria provided, single submitterVCV001298396
36.
GRCh37:
Chr1:1464674
GRCh38:
Chr1:1529294
ATAD3AS447W, S526W, S574WHarel-Yoon syndromeUncertain significance
(Sep 23, 2020)
criteria provided, single submitterVCV001213716
37.
GRCh37:
Chr1:1469416
GRCh38:
Chr1:1534036
ATAD3Anot providedLikely benign
(Dec 1, 2018)
criteria provided, single submitterVCV000806034
38.
GRCh37:
Chr1:1470853
GRCh38:
Chr1:1535473
TMEM240S136Rnot providedUncertain significance
(Jun 1, 2019)
criteria provided, single submitterVCV000806035
39.
GRCh37:
Chr1:1471078
GRCh38:
Chr1:1535698
TMEM240not providedUncertain significance
(Oct 1, 2017)
criteria provided, single submitterVCV000806036
40.
GRCh37:
Chr1:1475085
GRCh38:
Chr1:1539705
TMEM240V48Gnot providedUncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV001012720
41.
GRCh37:
Chr1:1586931
GRCh38:
Chr1:1655477
CDK11BD40G, D6GSeizuresUncertain significance
(Jan 1, 2017)
criteria provided, single submitterVCV000523444
42.
GRCh37:
Chr1:1718851
GRCh38:
Chr1:1787412
GNB1not providedLikely benign
(Jul 1, 2021)
criteria provided, single submitterVCV001298397
43.
GRCh37:
Chr1:1720541
GRCh38:
Chr1:1789102
GNB1not providedUncertain significance
(May 1, 2017)
criteria provided, single submitterVCV000444148
44.
GRCh37:
Chr1:1720681
GRCh38:
Chr1:1789242
GNB1T143A, T243AMental retardation, autosomal dominant 42Pathogenic
(Feb 26, 2020)
no assertion criteria providedVCV000995963
45.
GRCh37:
Chr1:1721951
GRCh38:
Chr1:1790512
GNB1not providedLikely benign
(Apr 1, 2018)
criteria provided, single submitterVCV000806037
46.
GRCh37:
Chr1:1735941
GRCh38:
Chr1:1804502
GNB1G116D, G16Dnot providedLikely pathogenic
(Feb 1, 2021)
criteria provided, single submitterVCV000996797
47.
GRCh37:
Chr1:1736001
GRCh38:
Chr1:1804562
GNB1R96LMental retardation, autosomal dominant 42Pathogenic
(Feb 26, 2020)
no assertion criteria providedVCV000995962
48.
GRCh37:
Chr1:1756881
GRCh38:
Chr1:1825442
GNB1not providedLikely benign
(Dec 1, 2018)
criteria provided, single submitterVCV000806038
49.
GRCh37:
Chr1:1956362
GRCh38:
Chr1:2024923
GABRDnot specifiedBenigncriteria provided, single submitterVCV000256824
50.
GRCh37:
Chr1:1956479
GRCh38:
Chr1:2025040
GABRDR56Qnot providedUncertain significance
(May 1, 2016)
criteria provided, single submitterVCV000806039
51.
GRCh37:
Chr1:1957044
GRCh38:
Chr1:2025605
GABRDS113GEpilepsy, idiopathic generalized 10Uncertain significance
(Aug 12, 2019)
criteria provided, single submitterVCV000931155
52.
GRCh37:
Chr1:1961408
GRCh38:
Chr1:2029969
GABRDnot specifiedBenigncriteria provided, single submitterVCV000256822
53.
GRCh37:
Chr1:2116433
GRCh38:
Chr1:2184994
PRKCZ, FAAP20not providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000723573
54.
GRCh37:
Chr1:2160342
GRCh38:
Chr1:2228903
SKIA46Gnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitterVCV001298398
55.
GRCh37:
Chr1:2160368
GRCh38:
Chr1:2228929
SKIA55Pnot providedUncertain significance
(Mar 11, 2018)
criteria provided, single submitterVCV000978540
56.
GRCh37:
Chr1:2160700
GRCh38:
Chr1:2229261
SKInot specifiedLikely benigncriteria provided, single submitterVCV000258901
57.
GRCh37:
Chr1:2234472
GRCh38:
Chr1:2303033
SKIQ342Rnot providedUncertain significance
(Oct 1, 2017)
criteria provided, single submitterVCV000493014
58.
GRCh37:
Chr1:2234752
GRCh38:
Chr1:2303313
SKIR375Hnot providedUncertain significance
(Jun 1, 2017)
criteria provided, single submitterVCV000444150
59.
GRCh37:
Chr1:2234756
GRCh38:
Chr1:2303317
SKInot providedLikely benign
(Apr 1, 2020)
criteria provided, single submitterVCV000932318
60.
GRCh37:
Chr1:2235384
GRCh38:
Chr1:2303945
SKIShprintzen-Goldberg syndromeLikely benign
(May 23, 2019)
criteria provided, single submitterVCV000811441
61.
GRCh37:
Chr1:2235403
GRCh38:
Chr1:2303964
SKIL446Fnot providedUncertain significance
(Mar 5, 2019)
criteria provided, single submitterVCV000636979
62.
GRCh37:
Chr1:2235506
GRCh38:
Chr1:2304067
SKIS480LJoint laxity, Intellectual disabilityUncertain significance
(Jul 19, 2019)
criteria provided, single submitterVCV000992795
63.
GRCh37:
Chr1:2235944
GRCh38:
Chr1:2304505
SKInot providedUncertain significance
(Jun 1, 2020)
criteria provided, single submitterVCV000932319
64.
GRCh37:
Chr1:2237659
GRCh38:
Chr1:2306220
SKInot providedLikely benign
(Jul 1, 2017)
criteria provided, single submitterVCV000493015
65.
GRCh37:
Chr1:2237685
GRCh38:
Chr1:2306246
SKIA665Vnot providedUncertain significance
(Jul 1, 2018)
criteria provided, single submitterVCV000623666
66.
GRCh37:
Chr1:2238074
GRCh38:
Chr1:2306635
SKIA686Vnot providedUncertain significance
(Apr 1, 2020)
criteria provided, single submitterVCV000932320
67.
GRCh37:
Chr1:2336254
GRCh38:
Chr1:2404815
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876385
68.
GRCh37:
Chr1:2336300
GRCh38:
Chr1:2404861
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876386
69.
GRCh37:
Chr1:2336351
GRCh38:
Chr1:2404912
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296252
70.
GRCh37:
Chr1:2336367
GRCh38:
Chr1:2404928
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296253
71.
GRCh37:
Chr1:2336370
GRCh38:
Chr1:2404931
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296254
72.
GRCh37:
Chr1:2336381
GRCh38:
Chr1:2404942
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874434
73.
GRCh37:
Chr1:2336407
GRCh38:
Chr1:2404968
RER1, PEX10Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296255
74.
GRCh37:
Chr1:2336423
GRCh38:
Chr1:2404984
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296256
75.
GRCh37:
Chr1:2336460-2336461
GRCh38:
Chr1:2405021-2405022
PEX10, RER1Peroxisome biogenesis disorder 1A (Zellweger)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000296257
76.
GRCh37:
Chr1:2336473
GRCh38:
Chr1:2405034
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296258
77.
GRCh37:
Chr1:2336517
GRCh38:
Chr1:2405078
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296259
78.
GRCh37:
Chr1:2336519
GRCh38:
Chr1:2405080
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000875341
79.
GRCh37:
Chr1:2336529
GRCh38:
Chr1:2405090
RER1, PEX10Peroxisome biogenesis disorder 6ALikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000875342
80.
GRCh37:
Chr1:2336562
GRCh38:
Chr1:2405123
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000875343
81.
GRCh37:
Chr1:2336578
GRCh38:
Chr1:2405139
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296260
82.
GRCh37:
Chr1:2336610
GRCh38:
Chr1:2405171
PEX10, RER1Peroxisome biogenesis disorder 6ALikely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000875344
83.
GRCh37:
Chr1:2336611
GRCh38:
Chr1:2405172
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296261
84.
GRCh37:
Chr1:2336706
GRCh38:
Chr1:2405267
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296262
85.
GRCh37:
Chr1:2336760
GRCh38:
Chr1:2405321
RER1, PEX10Peroxisome biogenesis disorder 6AUncertain significance
(Jan 22, 2018)
criteria provided, single submitterVCV000875345
86.
GRCh37:
Chr1:2336785
GRCh38:
Chr1:2405346
RER1, PEX10Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296263
87.
GRCh37:
Chr1:2336795
GRCh38:
Chr1:2405356
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296264
88.
GRCh37:
Chr1:2336804
GRCh38:
Chr1:2405365
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000875398
89.
GRCh37:
Chr1:2336853
GRCh38:
Chr1:2405414
PEX10, RER1Peroxisome biogenesis disorder 6ABenign
(Jan 13, 2018)
criteria provided, single submitterVCV000296265
90.
GRCh37:
Chr1:2338295
GRCh38:
Chr1:2406856
PEX10R234C, R214CZellweger syndrome, not providedUncertain significance
(Sep 5, 2017)
criteria provided, single submitterVCV000446046
91.
GRCh37:
Chr1:2338337
GRCh38:
Chr1:2406898
PEX10Q219E, Q220E, Q75EZellweger syndromeUncertain significance
(Aug 13, 2020)
no assertion criteria providedVCV000991789
92.
GRCh37:
Chr1:2339958
GRCh38:
Chr1:2408519
PEX10H178R, H34RZellweger syndromeUncertain significance
(Aug 5, 2020)
no assertion criteria providedVCV000991790
93.
GRCh37:
Chr1:2343861
GRCh38:
Chr1:2412422
PEX10S27RZellweger syndromeUncertain significance
(Sep 4, 2020)
no assertion criteria providedVCV000991791
94.
GRCh37:
Chr1:2343922
GRCh38:
Chr1:2412483
PLCH2, PEX10S7fsPeroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6ALikely pathogenic
(Oct 30, 2017)
criteria provided, single submitterVCV000554655
95.
GRCh37:
Chr1:2343924
GRCh38:
Chr1:2412485
PEX10, PLCH2Peroxisome biogenesis disorder, complementation group 7Likely benign
(Aug 6, 2020)
criteria provided, single submitterVCV001093631
96.
GRCh37:
Chr1:2343927
GRCh38:
Chr1:2412488
PEX10, PLCH2Peroxisome biogenesis disorder, complementation group 7Likely benign
(Mar 18, 2020)
criteria provided, single submitterVCV001145581
97.
GRCh37:
Chr1:2343933
GRCh38:
Chr1:2412494
PEX10, PLCH2Peroxisome biogenesis disorder, complementation group 7Likely benign
(Dec 13, 2019)
criteria provided, single submitterVCV001137502
98.
GRCh37:
Chr1:2343933
GRCh38:
Chr1:2412494
PEX10, PLCH2Peroxisome biogenesis disorder, complementation group 7Likely benign
(Mar 25, 2020)
criteria provided, single submitterVCV001080768
99.
GRCh37:
Chr1:2343936
GRCh38:
Chr1:2412497
PEX10, PLCH2Peroxisome biogenesis disorder, complementation group 7Likely benign
(May 4, 2019)
criteria provided, single submitterVCV001079989
100.
GRCh37:
Chr1:2343936
GRCh38:
Chr1:2412497
PEX10, PLCH2Peroxisome biogenesis disorder, complementation group 7, not provided, Peroxisome biogenesis disorder 6A,
not specified
Benign/Likely benign
(May 18, 2021)
criteria provided, multiple submitters, no conflictsVCV000284321
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