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Items: 1 to 100 of 179163

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:977059-977105
GRCh38:
Chr1:1041679-1041725
AGRNCongenital myasthenic syndrome 8Likely pathogenic
(Oct 24, 2018)
criteria provided, single submitterVCV000930633
2.
GRCh37:
Chr1:978577
GRCh38:
Chr1:1043197
AGRNCongenital myasthenic syndrome 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:
Chr1:982059
GRCh38:
Chr1:1046679
AGRNG1065E, G960Enot providedUncertain significance
(May 1, 2016)
criteria provided, single submitterVCV000806027
6.
GRCh37:
Chr1:982356
GRCh38:
Chr1:1046976
AGRNnot specifiedLikely benigncriteria provided, single submitterVCV000263180
7.
GRCh37:
Chr1:983004
GRCh38:
Chr1:1047624
AGRNR1190S, R1085Snot providedUncertain significance
(Jul 1, 2019)
criteria provided, single submitterVCV000872688
8.
GRCh37:
Chr1:984358-984359
GRCh38:
Chr1:1048978-1048979
AGRNQ1301fs, Q1406fsCongenital myasthenic syndrome 8Pathogenic
(Nov 9, 2021)
no assertion criteria providedVCV001322937
9.
GRCh37:
Chr1:985829
GRCh38:
Chr1:1050449
AGRNV1562M, V1667MCongenital myasthenic syndrome 8Pathogenic
(Sep 22, 2021)
no assertion criteria providedVCV001284257
10.
GRCh37:
Chr1:990277
GRCh38:
Chr1:1054897
AGRNnot specifiedLikely benigncriteria provided, single submitterVCV000263201
11.
GRCh37:
Chr1:1167855-1167864
GRCh38:
Chr1:1232475-1232484
B3GALT6R68fsnot providedLikely pathogenic
(Jun 23, 2020)
no assertion criteria providedVCV001323967
12.
GRCh37:
Chr1:1167996
GRCh38:
Chr1:1232616
B3GALT6Q113Rnot providedUncertain significance
(Mar 1, 2017)
criteria provided, single submitterVCV000424885
13.
GRCh37:
Chr1:1168334-1168335
GRCh38:
Chr1:1232954-1232955
B3GALT6not providedUncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV001012718
14.
GRCh37:
Chr1:1168339
GRCh38:
Chr1:1232959
B3GALT6Y227*not providedLikely pathogenic
(Jul 1, 2019)
criteria provided, single submitterVCV000806030
15.
GRCh37:
Chr1:1168351
GRCh38:
Chr1:1232971
B3GALT6S231Rnot providedUncertain significance
(Jul 1, 2019)
criteria provided, single submitterVCV000806031
16.
GRCh37:
Chr1:1168556-1168557
GRCh38:
Chr1:1233176-1233177
B3GALT6R302fsnot providedLikely pathogenic
(Nov 1, 2021)
no assertion criteria providedVCV001323966
17.
GRCh37:
Chr1:1221483
GRCh38:
Chr1:1286103
SCNN1DR246Cnot providedUncertain significance
(Feb 5, 2021)
criteria provided, single submitterVCV001330448
18.
GRCh37:
Chr1:1246062
GRCh38:
Chr1:1310682
PUSL1Y231*not providedUncertain significance
(Feb 4, 2021)
criteria provided, single submitterVCV001330537
19.
GRCh37:
Chr1:1271515-1271532
GRCh38:
Chr1:1336135-1336152
DVL1Autosomal dominant Robinow syndrome 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:
Chr1:1273387-1273388
GRCh38:
Chr1:1338007-1338008
DVL1S537fs, S562fsAutosomal dominant Robinow syndrome 1Likely pathogenic
(Aug 9, 2019)
criteria provided, single submitterVCV000931630
22.
GRCh37:
Chr1:1273564-1273648
GRCh38:
Chr1:1338184-1338268
DVL1not providednot providedno assertion providedVCV000208189
23.
GRCh37:
Chr1:1273963
GRCh38:
Chr1:1338583
DVL1not providedLikely benign
(Jun 1, 2021)
criteria provided, single submitterVCV001176490
24.
GRCh37:
Chr1:1284281
GRCh38:
Chr1:1348901
DVL1D55Enot providedUncertain significance
(Dec 30, 2019)
criteria provided, single submitterVCV001224407
25.
GRCh37:
Chr1:1372416-1372439
GRCh38:
Chr1:1437036-1437059
VWA1Neuromuscular diseaseLikely pathogenic
(Jan 1, 2020)
no assertion criteria providedVCV000830329
26.
GRCh37:
Chr1:1374916-1374917
GRCh38:
Chr1:1439536-1439537
VWA1Y364*not providedLikely pathogenic
(Feb 1, 2022)
criteria provided, single submitterVCV001675331
27.
GRCh37:
Chr1:1447667
GRCh38:
Chr1:1512287
ATAD3AI7Vnot providedBenign
(Mar 1, 2022)
criteria provided, single submitterVCV001675332
28.
GRCh37:
Chr1:1451420
GRCh38:
Chr1:1516040
ATAD3Anot providedUncertain significance
(Apr 1, 2021)
criteria provided, single submitterVCV001176491
29.
GRCh37:
Chr1:1452706
GRCh38:
Chr1:1517326
ATAD3AV100M, V148M, V21Mnot providedLikely benign
(Aug 1, 2021)
criteria provided, single submitterVCV001298395
30.
GRCh37:
Chr1:1452768
GRCh38:
Chr1:1517388
ATAD3Anot providedLikely benign
(Nov 1, 2020)
criteria provided, single submitterVCV001012719
31.
GRCh37:
Chr1:1452792
GRCh38:
Chr1:1517412
ATAD3Anot providedLikely benign
(May 1, 2021)
criteria provided, single submitterVCV001176492
32.
GRCh37:
Chr1:1452793
GRCh38:
Chr1:1517413
ATAD3Anot providedLikely pathogenic
(Oct 23, 2020)
criteria provided, single submitterVCV000986833
33.
GRCh37:
Chr1:1453130
GRCh38:
Chr1:1517750
ATAD3AR61H, R188H, R140Hnot providedUncertain significance
(Oct 1, 2018)
criteria provided, single submitterVCV000806032
34.
GRCh37:
Chr1:1454318
GRCh38:
Chr1:1518938
ATAD3AE154D, E202D, E75Dnot providedUncertain significance
(Oct 1, 2021)
criteria provided, single submitterVCV001334940
35.
GRCh37:
Chr1:1455576-1455577
GRCh38:
Chr1:1520196-1520197
ATAD3Ano interpretation for the single variantno interpretation for the single variantVCV001343247
36.
GRCh37:
Chr1:1455577
GRCh38:
Chr1:1520197
ATAD3AA191T, A112T, A239Tnot providedUncertain significance
(Oct 1, 2018)
criteria provided, single submitterVCV000806033
37.
GRCh37:
Chr1:1455621-1455623
GRCh38:
Chr1:1520241-1520243
ATAD3AI128del, I207del, I255delnot providedUncertain significance
(Feb 1, 2022)
criteria provided, single submitterVCV001675333
38.
GRCh37:
Chr1:1458165
GRCh38:
Chr1:1522785
ATAD3Anot providedLikely benign
(May 1, 2021)
criteria provided, single submitterVCV001176493
39.
GRCh37:
Chr1:1458912
GRCh38:
Chr1:1523532
ATAD3AR231*, R310*, R358*not providedLikely pathogenic
(Jan 1, 2022)
criteria provided, single submitterVCV001298396
40.
GRCh37:
Chr1:1460632
GRCh38:
Chr1:1525252
ATAD3Anot providedLikely benign
(Feb 1, 2022)
criteria provided, single submitterVCV001675335
41.
GRCh37:
Chr1:1469394
GRCh38:
Chr1:1534014
ATAD3AK489M, K568M, K616Mnot providedLikely benign
(Nov 1, 2021)
criteria provided, single submitterVCV001334941
42.
GRCh37:
Chr1:1469416
GRCh38:
Chr1:1534036
ATAD3Anot providedLikely benign
(Dec 1, 2018)
criteria provided, single submitterVCV000806034
43.
GRCh37:
Chr1:1469442
GRCh38:
Chr1:1534062
ATAD3AS505F, S584F, S632FHarel-Yoon syndromeUncertain significance
(Mar 12, 2021)
criteria provided, single submitterVCV001342411
44.
GRCh37:
Chr1:1470853
GRCh38:
Chr1:1535473
TMEM240S136Rnot providedUncertain significance
(Jun 1, 2019)
criteria provided, single submitterVCV000806035
45.
GRCh37:
Chr1:1471078
GRCh38:
Chr1:1535698
TMEM240not providedUncertain significance
(Oct 1, 2017)
criteria provided, single submitterVCV000806036
46.
GRCh37:
Chr1:1474871
GRCh38:
Chr1:1539491
LOC121967044, TMEM240not providedBenign
(Sep 25, 2019)
criteria provided, single submitterVCV001295591
47.
GRCh37:
Chr1:1475085
GRCh38:
Chr1:1539705
TMEM240V48Gnot providedUncertain significance
(Oct 1, 2020)
criteria provided, single submitterVCV001012720
48.
GRCh37:
Chr1:1586931
GRCh38:
Chr1:1655477
CDK11BD40G, D6GSeizureUncertain significance
(Jan 1, 2017)
criteria provided, single submitterVCV000523444
49.
GRCh37:
Chr1:1720681
GRCh38:
Chr1:1789242
GNB1T143A, T243AIntellectual disability, autosomal dominant 42Pathogenic
(Feb 26, 2020)
no assertion criteria providedVCV000995963
50.
GRCh37:
Chr1:1721951
GRCh38:
Chr1:1790512
GNB1not providedLikely benign
(Apr 1, 2018)
criteria provided, single submitterVCV000806037
51.
GRCh37:
Chr1:1735941
GRCh38:
Chr1:1804502
GNB1G116D, G16Dnot providedLikely pathogenic
(Feb 1, 2021)
criteria provided, single submitterVCV000996797
52.
GRCh37:
Chr1:1736002
GRCh38:
Chr1:1804563
GNB1R96Cnot providedLikely pathogenic
(Nov 1, 2021)
criteria provided, single submitterVCV001334942
53.
GRCh37:
Chr1:1756881
GRCh38:
Chr1:1825442
GNB1not providedLikely benign
(Dec 1, 2018)
criteria provided, single submitterVCV000806038
54.
GRCh37:
Chr1:1956377
GRCh38:
Chr1:2024938
GABRDEpilepsy, idiopathic generalized, susceptibility to, 10Uncertain significance
(Jun 4, 2021)
criteria provided, single submitterVCV001679621
55.
GRCh37:
Chr1:1956479
GRCh38:
Chr1:2025040
GABRDR56Qnot providedUncertain significance
(May 1, 2016)
criteria provided, single submitterVCV000806039
56.
GRCh37:
Chr1:1957044
GRCh38:
Chr1:2025605
GABRDS113GEpilepsy, idiopathic generalized, susceptibility to, 10Uncertain significance
(Aug 12, 2019)
criteria provided, single submitterVCV000931155
57.
GRCh37:
Chr1:1961477
GRCh38:
Chr1:2030038
GABRDQ372REpilepsy, idiopathic generalized, susceptibility to, 10Uncertain significance
(Jun 12, 2020)
criteria provided, single submitterVCV001341917
58.
GRCh37:
Chr1:1961717
GRCh38:
Chr1:2030278
GABRDM452TEpilepsy, idiopathic generalized, susceptibility to, 10Uncertain significance
(Mar 5, 2021)
criteria provided, single submitterVCV001342627
59.
GRCh37:
Chr1:2116433
GRCh38:
Chr1:2184994
FAAP20, PRKCZnot providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000723573
60.
GRCh37:
Chr1:2160246
GRCh38:
Chr1:2228807
SKIH14PShprintzen-Goldberg syndromeUncertain significance
(Nov 3, 2021)
criteria provided, single submitterVCV001319167
61.
GRCh37:
Chr1:2160342
GRCh38:
Chr1:2228903
SKIA46Gnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitterVCV001298398
62.
GRCh37:
Chr1:2160368
GRCh38:
Chr1:2228929
SKIA55Pnot providedUncertain significance
(Mar 11, 2018)
criteria provided, single submitterVCV000978540
63.
GRCh37:
Chr1:2160828
GRCh38:
Chr1:2229389
SKIA208VShprintzen-Goldberg syndromeUncertain significance
(Jun 18, 2020)
criteria provided, single submitterVCV001341723
64.
GRCh37:
Chr1:2161056
GRCh38:
Chr1:2229617
SKIY284Cnot providedUncertain significance
(Dec 1, 2021)
criteria provided, single submitterVCV001334943
65.
GRCh37:
Chr1:2161156-2161157
GRCh38:
Chr1:2229717-2229718
SKIR319fsShprintzen-Goldberg syndromePathogenic
(Nov 3, 2021)
criteria provided, single submitterVCV001319166
66.
GRCh37:
Chr1:2234472
GRCh38:
Chr1:2303033
SKIQ342Rnot providedUncertain significance
(Oct 1, 2017)
criteria provided, single submitterVCV000493014
67.
GRCh37:
Chr1:2234717
GRCh38:
Chr1:2303278
SKInot providedUncertain significance
(Jan 1, 2022)
criteria provided, single submitterVCV001675336
68.
GRCh37:
Chr1:2234724
GRCh38:
Chr1:2303285
SKIS366RShprintzen-Goldberg syndromeUncertain significance
(Jan 31, 2021)
criteria provided, single submitterVCV001330633
69.
GRCh37:
Chr1:2234752
GRCh38:
Chr1:2303313
SKIR375Hnot providedUncertain significance
(Jun 1, 2017)
criteria provided, single submitterVCV000444150
70.
GRCh37:
Chr1:2234756
GRCh38:
Chr1:2303317
SKInot providedLikely benign
(Apr 1, 2020)
criteria provided, single submitterVCV000932318
71.
GRCh37:
Chr1:2235384
GRCh38:
Chr1:2303945
SKIShprintzen-Goldberg syndromeLikely benign
(May 23, 2019)
criteria provided, single submitterVCV000811441
72.
GRCh37:
Chr1:2235403
GRCh38:
Chr1:2303964
SKIL446Fnot providedUncertain significance
(Mar 5, 2019)
criteria provided, single submitterVCV000636979
73.
GRCh37:
Chr1:2235778
GRCh38:
Chr1:2304339
SKInot providedLikely benign
(Dec 1, 2021)
criteria provided, single submitterVCV001334944
74.
GRCh37:
Chr1:2235944
GRCh38:
Chr1:2304505
SKInot providedUncertain significance
(Jun 1, 2020)
criteria provided, single submitterVCV000932319
75.
GRCh37:
Chr1:2237659
GRCh38:
Chr1:2306220
SKInot providedLikely benign
(Jul 1, 2017)
criteria provided, single submitterVCV000493015
76.
GRCh37:
Chr1:2237685
GRCh38:
Chr1:2306246
SKIA665Vnot providedUncertain significance
(Jul 1, 2018)
criteria provided, single submitterVCV000623666
77.
GRCh37:
Chr1:2238074
GRCh38:
Chr1:2306635
SKIA686Vnot providedUncertain significance
(Apr 1, 2020)
criteria provided, single submitterVCV000932320
78.
GRCh37:
Chr1:2336254
GRCh38:
Chr1:2404815
PEX10, RER1Peroxisome biogenesis disorder 6A (Zellweger)Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876385
79.
GRCh37:
Chr1:2336300
GRCh38:
Chr1:2404861
PEX10, RER1Peroxisome biogenesis disorder 6A (Zellweger)Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000876386
80.
GRCh37:
Chr1:2336351
GRCh38:
Chr1:2404912
PEX10, RER1Peroxisome biogenesis disorder 6A (Zellweger)Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296252
81.
GRCh37:
Chr1:2336367
GRCh38:
Chr1:2404928
PEX10, RER1Peroxisome biogenesis disorder 6A (Zellweger)Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296253
82.
GRCh37:
Chr1:2336370
GRCh38:
Chr1:2404931
PEX10, RER1Peroxisome biogenesis disorder 6A (Zellweger)Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296254
83.
GRCh37:
Chr1:2336381
GRCh38:
Chr1:2404942
PEX10, RER1Peroxisome biogenesis disorder 6A (Zellweger)Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000874434
84.
GRCh37:
Chr1:2336407
GRCh38:
Chr1:2404968
RER1, PEX10Peroxisome biogenesis disorder 6A (Zellweger)Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296255
85.
GRCh37:
Chr1:2336423
GRCh38:
Chr1:2404984
PEX10, RER1Peroxisome biogenesis disorder 6A (Zellweger)Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296256
86.
GRCh37:
Chr1:2336460-2336461
GRCh38:
Chr1:2405021-2405022
RER1, PEX10Peroxisome biogenesis disorder 1A (Zellweger)Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000296257
87.
GRCh37:
Chr1:2336473
GRCh38:
Chr1:2405034
RER1, PEX10Peroxisome biogenesis disorder 6A (Zellweger)Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296258
88.
GRCh37:
Chr1:2336517
GRCh38:
Chr1:2405078
PEX10, RER1Peroxisome biogenesis disorder 6A (Zellweger)Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296259
89.
GRCh37:
Chr1:2336519
GRCh38:
Chr1:2405080
PEX10, RER1Peroxisome biogenesis disorder 6A (Zellweger)Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000875341
90.
GRCh37:
Chr1:2336529
GRCh38:
Chr1:2405090
PEX10, RER1Peroxisome biogenesis disorder 6A (Zellweger)Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000875342
91.
GRCh37:
Chr1:2336562
GRCh38:
Chr1:2405123
PEX10, RER1Peroxisome biogenesis disorder 6A (Zellweger)Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000875343
92.
GRCh37:
Chr1:2336578
GRCh38:
Chr1:2405139
RER1, PEX10Peroxisome biogenesis disorder 6A (Zellweger)Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296260
93.
GRCh37:
Chr1:2336610
GRCh38:
Chr1:2405171
PEX10, RER1Peroxisome biogenesis disorder 6A (Zellweger)Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000875344
94.
GRCh37:
Chr1:2336611
GRCh38:
Chr1:2405172
RER1, PEX10Peroxisome biogenesis disorder 6A (Zellweger)Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296261
95.
GRCh37:
Chr1:2336706
GRCh38:
Chr1:2405267
RER1, PEX10Peroxisome biogenesis disorder 6A (Zellweger)Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000296262
96.
GRCh37:
Chr1:2336760
GRCh38:
Chr1:2405321
PEX10, RER1Peroxisome biogenesis disorder 6A (Zellweger)Uncertain significance
(Jan 22, 2018)
criteria provided, single submitterVCV000875345
97.
GRCh37:
Chr1:2336785
GRCh38:
Chr1:2405346
PEX10, RER1Peroxisome biogenesis disorder 6A (Zellweger)Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296263
98.
GRCh37:
Chr1:2336795
GRCh38:
Chr1:2405356
PEX10, RER1Peroxisome biogenesis disorder 6A (Zellweger)Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000296264
99.
GRCh37:
Chr1:2336804
GRCh38:
Chr1:2405365
PEX10, RER1Peroxisome biogenesis disorder 6A (Zellweger)Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000875398
100.
GRCh37:
Chr1:2336853
GRCh38:
Chr1:2405414
RER1, PEX10Peroxisome biogenesis disorder 6A (Zellweger)Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000296265
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