S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 1 to 100 of 130696

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:955596
GRCh38:
Chr1:1020216
AGRNP15Rnot providedUncertain significance
(Feb 3, 2017)
criteria provided, single submitterVCV000377270
2.
GRCh37:
Chr1:977059-977105
GRCh38:
Chr1:1041679-1041725
AGRNMyasthenic syndrome, congenital, 8Likely pathogenic
(Oct 24, 2018)
criteria provided, single submitterVCV000930633
3.
GRCh37:
Chr1:978741
GRCh38:
Chr1:1043361
AGRNG503S, G398Snot providedUncertain significance
(Jun 1, 2018)
criteria provided, single submitterVCV000623664
4.
GRCh37:
Chr1:980948
GRCh38:
Chr1:1045568
AGRNnot specifiedLikely benigncriteria provided, single submitterVCV000263171
5.
GRCh37:
Chr1:981165
GRCh38:
Chr1:1045785
AGRNnot specifiedLikely benigncriteria provided, single submitterVCV000263174
6.
GRCh37:
Chr1:981166
GRCh38:
Chr1:1045786
AGRNG864R, G759Rnot providedUncertain significance
(Jun 1, 2020)
criteria provided, single submitterVCV000932316
7.
GRCh37:
Chr1:981328
GRCh38:
Chr1:1045948
AGRNnot specifiedLikely benigncriteria provided, single submitterVCV000263175
8.
GRCh37:
Chr1:982059
GRCh38:
Chr1:1046679
AGRNG1065E, G960Enot providedUncertain significance
(May 1, 2016)
criteria provided, single submitterVCV000806027
9.
GRCh37:
Chr1:982356
GRCh38:
Chr1:1046976
AGRNnot specifiedLikely benigncriteria provided, single submitterVCV000263180
10.
GRCh37:
Chr1:983004
GRCh38:
Chr1:1047624
AGRNR1190S, R1085Snot providedUncertain significance
(Jul 1, 2019)
criteria provided, single submitterVCV000872688
11.
GRCh37:
Chr1:985036
GRCh38:
Chr1:1049656
AGRNnot providedLikely benign
(Jun 1, 2020)
criteria provided, single submitterVCV000932317
12.
GRCh37:
Chr1:985076
GRCh38:
Chr1:1049696
AGRNG1444R, G1549Rnot providedUncertain significance
(Sep 1, 2018)
criteria provided, single submitterVCV000806028
13.
GRCh37:
Chr1:985434
GRCh38:
Chr1:1050054
AGRNnot specifiedLikely benigncriteria provided, single submitterVCV000263190
14.
GRCh37:
Chr1:985446
GRCh38:
Chr1:1050066
AGRNnot specifiedBenigncriteria provided, single submitterVCV000263191
15.
GRCh37:
Chr1:985449
GRCh38:
Chr1:1050069
AGRNnot specifiedBenigncriteria provided, single submitterVCV000263192
16.
GRCh37:
Chr1:986716
GRCh38:
Chr1:1051336
AGRNnot specifiedLikely benigncriteria provided, single submitterVCV000263196
17.
GRCh37:
Chr1:990277
GRCh38:
Chr1:1054897
AGRNnot specifiedLikely benigncriteria provided, single submitterVCV000263201
18.
GRCh37:
Chr1:1167996
GRCh38:
Chr1:1232616
B3GALT6Q113Rnot providedUncertain significance
(Mar 1, 2017)
criteria provided, single submitterVCV000424885
19.
GRCh37:
Chr1:1168334-1168335
GRCh38:
Chr1:1232954-1232955
B3GALT6not providedUncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV001012718
20.
GRCh37:
Chr1:1168334
GRCh38:
Chr1:1232954
B3GALT6H226Ynot providedUncertain significance
(Oct 1, 2017)
criteria provided, single submitterVCV000806029
21.
GRCh37:
Chr1:1168339
GRCh38:
Chr1:1232959
B3GALT6Y227*not providedLikely pathogenic
(Jul 1, 2019)
criteria provided, single submitterVCV000806030
22.
GRCh37:
Chr1:1168351
GRCh38:
Chr1:1232971
B3GALT6S231Rnot providedUncertain significance
(Jul 1, 2019)
criteria provided, single submitterVCV000806031
23.
GRCh37:
Chr1:1271515-1271532
GRCh38:
Chr1:1336135-1336152
DVL1Robinow syndrome, autosomal dominant 1Uncertain significance
(Sep 23, 2019)
criteria provided, single submitterVCV000931592
24.
GRCh37:
Chr1:1271833
GRCh38:
Chr1:1336453
DVL1R568W, R593Wnot providedUncertain significance
(Aug 28, 2017)
criteria provided, single submitterVCV000445443
25.
GRCh37:
Chr1:1273387-1273388
GRCh38:
Chr1:1338007-1338008
DVL1S537fs, S562fsRobinow syndrome, autosomal dominant 1Likely pathogenic
(Aug 9, 2019)
criteria provided, single submitterVCV000931630
26.
GRCh37:
Chr1:1273564-1273648
GRCh38:
Chr1:1338184-1338268
DVL1not providednot providedno assertion providedVCV000208189
27.
GRCh37:
Chr1:1371178-1371179
GRCh38:
Chr1:1435798-1435799
VWA1G25fsNEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES, NeuromyopathyPathogenic/Likely pathogenic
(Mar 5, 2021)
no assertion criteria providedVCV000830327
28.
GRCh37:
Chr1:1372416-1372439
GRCh38:
Chr1:1437036-1437059
VWA1NeuromyopathyLikely pathogenic
(Jan 1, 2020)
no assertion criteria providedVCV000830329
29.
GRCh37:
Chr1:1452768
GRCh38:
Chr1:1517388
ATAD3Anot providedLikely benign
(Nov 1, 2020)
criteria provided, single submitterVCV001012719
30.
GRCh37:
Chr1:1452793
GRCh38:
Chr1:1517413
ATAD3Anot providedLikely pathogenic
(Oct 23, 2020)
criteria provided, single submitterVCV000986833
31.
GRCh37:
Chr1:1453130
GRCh38:
Chr1:1517750
ATAD3AR61H, R188H, R140Hnot providedUncertain significance
(Oct 1, 2018)
criteria provided, single submitterVCV000806032
32.
GRCh37:
Chr1:1455577
GRCh38:
Chr1:1520197
ATAD3AA191T, A112T, A239Tnot providedUncertain significance
(Oct 1, 2018)
criteria provided, single submitterVCV000806033
33.
GRCh37:
Chr1:1469416
GRCh38:
Chr1:1534036
ATAD3Anot providedLikely benign
(Dec 1, 2018)
criteria provided, single submitterVCV000806034
34.
GRCh37:
Chr1:1470853
GRCh38:
Chr1:1535473
TMEM240S136Rnot providedUncertain significance
(Jun 1, 2019)
criteria provided, single submitterVCV000806035
35.
GRCh37:
Chr1:1471078
GRCh38:
Chr1:1535698
TMEM240not providedUncertain significance
(Oct 1, 2017)
criteria provided, single submitterVCV000806036
36.
GRCh37:
Chr1:1475085
GRCh38:
Chr1:1539705
TMEM240V48Gnot providedUncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV001012720
37.
GRCh37:
Chr1:1586931
GRCh38:
Chr1:1655477
CDK11BD40G, D6GSeizuresUncertain significance
(Jan 1, 2017)
criteria provided, single submitterVCV000523444
38.
GRCh37:
Chr1:1720541
GRCh38:
Chr1:1789102
GNB1not providedUncertain significance
(May 1, 2017)
criteria provided, single submitterVCV000444148
39.
GRCh37:
Chr1:1720681
GRCh38:
Chr1:1789242
GNB1T143A, T243AMental retardation, autosomal dominant 42Pathogenic
(Feb 26, 2020)
no assertion criteria providedVCV000995963
40.
GRCh37:
Chr1:1721951
GRCh38:
Chr1:1790512
GNB1not providedLikely benign
(Apr 1, 2018)
criteria provided, single submitterVCV000806037
41.
GRCh37:
Chr1:1735941
GRCh38:
Chr1:1804502
GNB1G116D, G16Dnot providedLikely pathogenic
(Feb 1, 2021)
criteria provided, single submitterVCV000996797
42.
GRCh37:
Chr1:1736001
GRCh38:
Chr1:1804562
GNB1R96LMental retardation, autosomal dominant 42Pathogenic
(Feb 26, 2020)
no assertion criteria providedVCV000995962
43.
GRCh37:
Chr1:1756881
GRCh38:
Chr1:1825442
GNB1not providedLikely benign
(Dec 1, 2018)
criteria provided, single submitterVCV000806038
44.
GRCh37:
Chr1:1956362
GRCh38:
Chr1:2024923
GABRDnot specifiedBenigncriteria provided, single submitterVCV000256824
45.
GRCh37:
Chr1:1956479
GRCh38:
Chr1:2025040
GABRDR56Qnot providedUncertain significance
(May 1, 2016)
criteria provided, single submitterVCV000806039
46.
GRCh37:
Chr1:1957044
GRCh38:
Chr1:2025605
GABRDS113GEpilepsy, idiopathic generalized 10Uncertain significance
(Aug 12, 2019)
criteria provided, single submitterVCV000931155
47.
GRCh37:
Chr1:1960674
GRCh38:
Chr1:2029235
GABRDnot specifiedBenigncriteria provided, single submitterVCV000256825
48.
GRCh37:
Chr1:1961408
GRCh38:
Chr1:2029969
GABRDnot specifiedBenigncriteria provided, single submitterVCV000256822
49.
GRCh37:
Chr1:2116433
GRCh38:
Chr1:2184994
PRKCZ, FAAP20not providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000723573
50.
GRCh37:
Chr1:2160368
GRCh38:
Chr1:2228929
SKIA55Pnot providedUncertain significance
(Mar 11, 2018)
criteria provided, single submitterVCV000978540
51.
GRCh37:
Chr1:2160700
GRCh38:
Chr1:2229261
SKInot specifiedLikely benigncriteria provided, single submitterVCV000258901
52.
GRCh37:
Chr1:2234472
GRCh38:
Chr1:2303033
SKIQ342Rnot providedUncertain significance
(Oct 1, 2017)
criteria provided, single submitterVCV000493014
53.
GRCh37:
Chr1:2234752
GRCh38:
Chr1:2303313
SKIR375Hnot providedUncertain significance
(Jun 1, 2017)
criteria provided, single submitterVCV000444150
54.
GRCh37:
Chr1:2234756
GRCh38:
Chr1:2303317
SKInot providedLikely benign
(Apr 1, 2020)
criteria provided, single submitterVCV000932318
55.
GRCh37:
Chr1:2235384
GRCh38:
Chr1:2303945
SKIShprintzen-Goldberg syndromeLikely benign
(May 23, 2019)
criteria provided, single submitterVCV000811441
56.
GRCh37:
Chr1:2235403
GRCh38:
Chr1:2303964
SKIL446Fnot providedUncertain significance
(Mar 5, 2019)
criteria provided, single submitterVCV000636979
57.
GRCh37:
Chr1:2235506
GRCh38:
Chr1:2304067
SKIS480LIntellectual disability, Joint laxityUncertain significance
(Jul 19, 2019)
criteria provided, single submitterVCV000992795
58.
GRCh37:
Chr1:2235944
GRCh38:
Chr1:2304505
SKInot providedUncertain significance
(Jun 1, 2020)
criteria provided, single submitterVCV000932319
59.
GRCh37:
Chr1:2237659
GRCh38:
Chr1:2306220
SKInot providedLikely benign
(Jul 1, 2017)
criteria provided, single submitterVCV000493015
60.
GRCh37:
Chr1:2237685
GRCh38:
Chr1:2306246
SKIA665Vnot providedUncertain significance
(Jul 1, 2018)
criteria provided, single submitterVCV000623666
61.
GRCh37:
Chr1:2238074
GRCh38:
Chr1:2306635
SKIA686Vnot providedUncertain significance
(Apr 1, 2020)
criteria provided, single submitterVCV000932320
62.
GRCh37:
Chr1:2336254
GRCh38:
Chr1:2404815
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876385
63.
GRCh37:
Chr1:2336300
GRCh38:
Chr1:2404861
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876386
64.
GRCh37:
Chr1:2336351
GRCh38:
Chr1:2404912
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296252
65.
GRCh37:
Chr1:2336367
GRCh38:
Chr1:2404928
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296253
66.
GRCh37:
Chr1:2336370
GRCh38:
Chr1:2404931
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296254
67.
GRCh37:
Chr1:2336381
GRCh38:
Chr1:2404942
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874434
68.
GRCh37:
Chr1:2336407
GRCh38:
Chr1:2404968
RER1, PEX10Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296255
69.
GRCh37:
Chr1:2336423
GRCh38:
Chr1:2404984
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296256
70.
GRCh37:
Chr1:2336460-2336461
GRCh38:
Chr1:2405021-2405022
PEX10, RER1Peroxisome biogenesis disorder 1A (Zellweger)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000296257
71.
GRCh37:
Chr1:2336473
GRCh38:
Chr1:2405034
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296258
72.
GRCh37:
Chr1:2336517
GRCh38:
Chr1:2405078
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296259
73.
GRCh37:
Chr1:2336519
GRCh38:
Chr1:2405080
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000875341
74.
GRCh37:
Chr1:2336529
GRCh38:
Chr1:2405090
RER1, PEX10Peroxisome biogenesis disorder 6ALikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000875342
75.
GRCh37:
Chr1:2336562
GRCh38:
Chr1:2405123
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000875343
76.
GRCh37:
Chr1:2336578
GRCh38:
Chr1:2405139
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296260
77.
GRCh37:
Chr1:2336610
GRCh38:
Chr1:2405171
PEX10, RER1Peroxisome biogenesis disorder 6ALikely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000875344
78.
GRCh37:
Chr1:2336611
GRCh38:
Chr1:2405172
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296261
79.
GRCh37:
Chr1:2336706
GRCh38:
Chr1:2405267
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296262
80.
GRCh37:
Chr1:2336760
GRCh38:
Chr1:2405321
RER1, PEX10Peroxisome biogenesis disorder 6AUncertain significance
(Jan 22, 2018)
criteria provided, single submitterVCV000875345
81.
GRCh37:
Chr1:2336785
GRCh38:
Chr1:2405346
RER1, PEX10Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296263
82.
GRCh37:
Chr1:2336795
GRCh38:
Chr1:2405356
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296264
83.
GRCh37:
Chr1:2336804
GRCh38:
Chr1:2405365
PEX10, RER1Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000875398
84.
GRCh37:
Chr1:2336853
GRCh38:
Chr1:2405414
PEX10, RER1Peroxisome biogenesis disorder 6ABenign
(Jan 13, 2018)
criteria provided, single submitterVCV000296265
85.
GRCh37:
Chr1:2337282
GRCh38:
Chr1:2405843
PEX10Zellweger syndromeUncertain significance
(Aug 17, 2020)
no assertion criteria providedVCV000991788
86.
GRCh37:
Chr1:2338295
GRCh38:
Chr1:2406856
PEX10R234C, R214CZellweger syndrome, not providedUncertain significance
(Sep 5, 2017)
criteria provided, single submitterVCV000446046
87.
GRCh37:
Chr1:2338337
GRCh38:
Chr1:2406898
PEX10Q219E, Q220E, Q75EZellweger syndromeUncertain significance
(Aug 13, 2020)
no assertion criteria providedVCV000991789
88.
GRCh37:
Chr1:2339958
GRCh38:
Chr1:2408519
PEX10H178R, H34RZellweger syndromeUncertain significance
(Aug 5, 2020)
no assertion criteria providedVCV000991790
89.
GRCh37:
Chr1:2343861
GRCh38:
Chr1:2412422
PEX10S27RZellweger syndromeUncertain significance
(Sep 4, 2020)
no assertion criteria providedVCV000991791
90.
GRCh37:
Chr1:2343892
GRCh38:
Chr1:2412453
PEX10K17RPeroxisome biogenesis disorder 6AUncertain significance
(Apr 25, 2019)
criteria provided, single submitterVCV000930457
91.
GRCh37:
Chr1:2343922
GRCh38:
Chr1:2412483
PEX10, PLCH2S7fsPeroxisome biogenesis disorder 6A, Peroxisome biogenesis disorder 6BLikely pathogenic
(Oct 30, 2017)
criteria provided, single submitterVCV000554655
92.
GRCh37:
Chr1:2343936
GRCh38:
Chr1:2412497
PEX10, PLCH2Peroxisome biogenesis disorder 6A, not provided, not specified
Benign/Likely benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflictsVCV000284321
93.
GRCh37:
Chr1:2343938
GRCh38:
Chr1:2412499
PEX10, PLCH2A2fsPeroxisome biogenesis disorder 6B, Zellweger syndrome, Peroxisome biogenesis disorders, Zellweger syndrome spectrum,
not provided
Pathogenic
(Jan 11, 2021)
criteria provided, multiple submitters, no conflictsVCV000449304
94.
GRCh37:
Chr1:2343940
GRCh38:
Chr1:2412501
PEX10, PLCH2M1TPeroxisome biogenesis disorder 6A, Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6B
Pathogenic
(Feb 24, 2017)
criteria provided, single submitterVCV000162434
95.
GRCh37:
Chr1:2343941
GRCh38:
Chr1:2412502
PEX10, PLCH2M1VPeroxisome biogenesis disorder 6A, Peroxisome biogenesis disorder 6B, not provided
Pathogenic/Likely pathogenic
(Feb 15, 2018)
criteria provided, multiple submitters, no conflictsVCV000280002
96.
GRCh37:
Chr1:2343944
GRCh38:
Chr1:2412505
PEX10, PLCH2not providedUncertain significance
(Sep 1, 2017)
criteria provided, single submitterVCV000593899
97.
GRCh37:
Chr1:2343950
GRCh38:
Chr1:2412511
PEX10, PLCH2Peroxisome biogenesis disorder 6AUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000873587
98.
GRCh37:
Chr1:2343959
GRCh38:
Chr1:2412520
PEX10, PLCH2Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000873588
99.
GRCh37:
Chr1:2343992-2343993
GRCh38:
Chr1:2412553-2412554
PEX10, PLCH2Peroxisome biogenesis disorder 1A (Zellweger)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000296284
100.
GRCh37:
Chr1:2344018
GRCh38:
Chr1:2412579
PEX10, PLCH2Peroxisome biogenesis disorder 6AUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874591
Format
Items per page
Sort by

Download:

Choose Destination
Support Center