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Items: 1 to 100 of 583980

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:861332
GRCh38:
Chr1:925952
SAMD11G183E, G4Enot providedUncertain significance
(Jul 3, 2020)
criteria provided, single submitterVCV001019397
2.
GRCh37:
Chr1:865519
GRCh38:
Chr1:930139
SAMD11not providedLikely benign
(Oct 19, 2020)
criteria provided, single submitterVCV001125147
3.
GRCh37:
Chr1:865545
GRCh38:
Chr1:930165
SAMD11R207Q, R28Qnot providedBenign
(Sep 11, 2020)
criteria provided, single submitterVCV001164676
4.
GRCh37:
Chr1:865567
GRCh38:
Chr1:930187
SAMD11not providedLikely benign
(Aug 27, 2020)
criteria provided, single submitterVCV001144630
5.
GRCh37:
Chr1:865568
GRCh38:
Chr1:930188
SAMD11A36Tnot providedUncertain significance
(Dec 3, 2019)
criteria provided, single submitterVCV000846933
6.
GRCh37:
Chr1:865579
GRCh38:
Chr1:930199
SAMD11not providedLikely benign
(Feb 3, 2020)
criteria provided, single submitterVCV001095790
7.
GRCh37:
Chr1:865580
GRCh38:
Chr1:930200
SAMD11A219T, A40Tnot providedUncertain significance
(Jun 8, 2020)
criteria provided, single submitterVCV001043045
8.
GRCh37:
Chr1:865583
GRCh38:
Chr1:930203
SAMD11R41Wnot providedUncertain significance
(Oct 31, 2019)
criteria provided, single submitterVCV000972363
9.
GRCh37:
Chr1:865584
GRCh38:
Chr1:930204
SAMD11R220Q, R41Qnot providedBenign
(Nov 27, 2020)
criteria provided, single submitterVCV001170208
10.
GRCh37:
Chr1:865602-865607
GRCh38:
Chr1:930222-930227
SAMD11R226fs, R47fsnot providedUncertain significance
(Jul 3, 2020)
criteria provided, single submitterVCV000998906
11.
GRCh37:
Chr1:865625
GRCh38:
Chr1:930245
SAMD11D234N, D55Nnot providedLikely benign
(Nov 18, 2020)
criteria provided, single submitterVCV001131472
12.
GRCh37:
Chr1:865627
GRCh38:
Chr1:930247
SAMD11not providedLikely benign
(Oct 9, 2020)
criteria provided, single submitterVCV001145077
13.
GRCh37:
Chr1:865628
GRCh38:
Chr1:930248
SAMD11G56Snot providedLikely benign
(Dec 5, 2020)
criteria provided, single submitterVCV000789256
14.
GRCh37:
Chr1:865655
GRCh38:
Chr1:930275
SAMD11C65Gnot providedUncertain significance
(Oct 2, 2019)
criteria provided, single submitterVCV000969662
15.
GRCh37:
Chr1:865662
GRCh38:
Chr1:930282
SAMD11R246Q, R67Qnot providedLikely benign
(Oct 8, 2020)
criteria provided, single submitterVCV001140293
16.
GRCh37:
Chr1:865665
GRCh38:
Chr1:930285
SAMD11R247Q, R68Qnot providedBenign
(Nov 23, 2020)
criteria provided, single submitterVCV001165489
17.
GRCh37:
Chr1:865694
GRCh38:
Chr1:930314
SAMD11H257Y, H78Ynot providedBenign
(Dec 2, 2020)
criteria provided, single submitterVCV001170010
18.
GRCh37:
Chr1:865697
GRCh38:
Chr1:930317
SAMD11I258V, I79Vnot providedUncertain significance
(Aug 5, 2020)
criteria provided, single submitterVCV001002057
19.
GRCh37:
Chr1:865700
GRCh38:
Chr1:930320
SAMD11R259C, R80Cnot providedLikely benign
(Nov 21, 2020)
criteria provided, single submitterVCV001099322
20.
GRCh37:
Chr1:865701
GRCh38:
Chr1:930321
SAMD11R259H, R80Hnot providedUncertain significance
(Oct 5, 2020)
criteria provided, single submitterVCV001002043
21.
GRCh37:
Chr1:865705
GRCh38:
Chr1:930325
SAMD11not providedBenign
(Nov 20, 2020)
criteria provided, single submitterVCV001168187
22.
GRCh37:
Chr1:865716
GRCh38:
Chr1:930336
SAMD11R85Knot providedUncertain significance
(Dec 31, 2019)
criteria provided, single submitterVCV000843786
23.
GRCh37:
Chr1:865723
GRCh38:
Chr1:930343
SAMD11not providedLikely benign
(Feb 15, 2020)
criteria provided, single submitterVCV001107141
24.
GRCh37:
Chr1:865726
GRCh38:
Chr1:930346
SAMD11not providedLikely benign
(Aug 27, 2019)
criteria provided, single submitterVCV001130596
25.
GRCh37:
Chr1:866404
GRCh38:
Chr1:931024
SAMD11not providedLikely benign
(Oct 9, 2020)
criteria provided, single submitterVCV001124503
26.
GRCh37:
Chr1:866419
GRCh38:
Chr1:931039
SAMD11not providedUncertain significance
(Sep 28, 2019)
criteria provided, single submitterVCV000956114
27.
GRCh37:
Chr1:866422
GRCh38:
Chr1:931042
SAMD11not providedBenign
(Nov 26, 2020)
criteria provided, single submitterVCV001170044
28.
GRCh37:
Chr1:866429
GRCh38:
Chr1:931049
SAMD11H89Ynot providedUncertain significance
(Oct 25, 2020)
criteria provided, single submitterVCV000943630
29.
GRCh37:
Chr1:866430
GRCh38:
Chr1:931050
SAMD11H89Rnot providedUncertain significance
(Dec 30, 2019)
criteria provided, single submitterVCV000852351
30.
GRCh37:
Chr1:866431
GRCh38:
Chr1:931051
SAMD11not providedLikely benign
(Jul 28, 2020)
criteria provided, single submitterVCV001097908
31.
GRCh37:
Chr1:866438
GRCh38:
Chr1:931058
SAMD11V271M, V92Mnot providedLikely benign
(Nov 14, 2020)
criteria provided, single submitterVCV001080861
32.
GRCh37:
Chr1:866454
GRCh38:
Chr1:931074
SAMD11R97Q, R276Qnot providedUncertain significance
(Mar 25, 2020)
criteria provided, single submitterVCV001047625
33.
GRCh37:
Chr1:866461
GRCh38:
Chr1:931081
SAMD11not providedLikely benign
(Oct 18, 2019)
criteria provided, single submitterVCV001158985
34.
GRCh37:
Chr1:866478
GRCh38:
Chr1:931098
SAMD11not providedLikely benign
(Aug 14, 2020)
criteria provided, single submitterVCV001161277
35.
GRCh37:
Chr1:871143
GRCh38:
Chr1:935763
SAMD11not providedLikely benign
(Jul 9, 2020)
criteria provided, single submitterVCV001158587
36.
GRCh37:
Chr1:871143
GRCh38:
Chr1:935763
SAMD11not providedLikely benign
(Jul 8, 2020)
criteria provided, single submitterVCV001127328
37.
GRCh37:
Chr1:871146
GRCh38:
Chr1:935766
SAMD11not providedBenign
(Apr 8, 2020)
criteria provided, single submitterVCV001169977
38.
GRCh37:
Chr1:871155
GRCh38:
Chr1:935775
SAMD11not providedLikely benign
(Jul 8, 2020)
criteria provided, single submitterVCV001161254
39.
GRCh37:
Chr1:871158
GRCh38:
Chr1:935778
SAMD11not providedLikely benign
(Sep 3, 2020)
criteria provided, single submitterVCV001150763
40.
GRCh37:
Chr1:871159
GRCh38:
Chr1:935779
SAMD11G105S, G284Snot providedBenign
(Nov 6, 2020)
criteria provided, single submitterVCV001167937
41.
GRCh37:
Chr1:871173
GRCh38:
Chr1:935793
SAMD11not providedLikely benign
(Nov 20, 2019)
criteria provided, single submitterVCV001111030
42.
GRCh37:
Chr1:871176
GRCh38:
Chr1:935796
SAMD11not providedBenign
(Nov 23, 2019)
criteria provided, single submitterVCV001169805
43.
GRCh37:
Chr1:871192
GRCh38:
Chr1:935812
SAMD11R116C, R295Cnot providedLikely benign
(Sep 11, 2020)
criteria provided, single submitterVCV001149133
44.
GRCh37:
Chr1:871199
GRCh38:
Chr1:935819
SAMD11R118L, R297Lnot providedUncertain significance
(Aug 27, 2020)
criteria provided, single submitterVCV001008984
45.
GRCh37:
Chr1:871206
GRCh38:
Chr1:935826
SAMD11not providedLikely benign
(Jul 15, 2020)
criteria provided, single submitterVCV001140111
46.
GRCh37:
Chr1:871213
GRCh38:
Chr1:935833
SAMD11P123Anot providedUncertain significance
(Aug 2, 2019)
criteria provided, single submitterVCV000962835
47.
GRCh37:
Chr1:871215
GRCh38:
Chr1:935835
SAMD11not providedBenign
(Dec 2, 2020)
criteria provided, single submitterVCV001170011
48.
GRCh37:
Chr1:871215
GRCh38:
Chr1:935835
SAMD11not providedBenign
(Nov 23, 2019)
criteria provided, single submitterVCV001169806
49.
GRCh37:
Chr1:871219
GRCh38:
Chr1:935839
SAMD11H125Y, H304Ynot providedLikely benign
(Jul 24, 2020)
criteria provided, single submitterVCV001085785
50.
GRCh37:
Chr1:871227
GRCh38:
Chr1:935847
SAMD11S127Rnot providedUncertain significance
(Dec 5, 2019)
criteria provided, single submitterVCV000862561
51.
GRCh37:
Chr1:871229
GRCh38:
Chr1:935849
SAMD11R128P, R307Pnot providedLikely benign
(Nov 16, 2020)
criteria provided, single submitterVCV001115824
52.
GRCh37:
Chr1:871230
GRCh38:
Chr1:935850
SAMD11not providedLikely benign
(Feb 14, 2020)
criteria provided, single submitterVCV001093933
53.
GRCh37:
Chr1:871231
GRCh38:
Chr1:935851
SAMD11C129R, C308Rnot providedUncertain significance
(Sep 9, 2020)
criteria provided, single submitterVCV001059598
54.
GRCh37:
Chr1:871239
GRCh38:
Chr1:935859
SAMD11not providedBenign
(Oct 9, 2020)
criteria provided, single submitterVCV001169668
55.
GRCh37:
Chr1:871246-871247
GRCh38:
Chr1:935866-935867
SAMD11R141fs, R320fsnot providedUncertain significance
(Feb 26, 2020)
criteria provided, single submitterVCV001057892
56.
GRCh37:
Chr1:871252
GRCh38:
Chr1:935872
SAMD11not providedLikely benign
(Nov 4, 2020)
criteria provided, single submitterVCV001144475
57.
GRCh37:
Chr1:871262
GRCh38:
Chr1:935882
SAMD11G139D, G318Dnot providedUncertain significance
(Jan 30, 2020)
criteria provided, single submitterVCV001025423
58.
GRCh37:
Chr1:871273
GRCh38:
Chr1:935893
SAMD11A143T, A322Tnot providedUncertain significance
(Jul 8, 2020)
criteria provided, single submitterVCV001015922
59.
GRCh37:
Chr1:871275
GRCh38:
Chr1:935895
SAMD11not providedUncertain significance
(May 8, 2020)
criteria provided, single submitterVCV001027002
60.
GRCh37:
Chr1:874410
GRCh38:
Chr1:939030
SAMD11not providedLikely benign
(Oct 24, 2019)
criteria provided, single submitterVCV001100007
61.
GRCh37:
Chr1:874415
GRCh38:
Chr1:939035
SAMD11not providedBenign
(Sep 27, 2020)
criteria provided, single submitterVCV001166157
62.
GRCh37:
Chr1:874416
GRCh38:
Chr1:939036
SAMD11not providedLikely benign
(Jun 26, 2020)
criteria provided, single submitterVCV001140611
63.
GRCh37:
Chr1:874446
GRCh38:
Chr1:939066
SAMD11R153Cnot providedUncertain significance
(Oct 9, 2020)
criteria provided, single submitterVCV000861002
64.
GRCh37:
Chr1:874447
GRCh38:
Chr1:939067
SAMD11R153H, R332Hnot providedUncertain significance
(Feb 22, 2020)
criteria provided, single submitterVCV001043874
65.
GRCh37:
Chr1:874451
GRCh38:
Chr1:939071
SAMD11not providedLikely benign
(Apr 18, 2020)
criteria provided, single submitterVCV001117938
66.
GRCh37:
Chr1:874455
GRCh38:
Chr1:939075
SAMD11R156Cnot providedUncertain significance
(Mar 20, 2020)
criteria provided, single submitterVCV000857919
67.
GRCh37:
Chr1:874456
GRCh38:
Chr1:939076
SAMD11R156H, R335Hnot providedLikely benign
(Oct 9, 2020)
criteria provided, single submitterVCV001122639
68.
GRCh37:
Chr1:874456
GRCh38:
Chr1:939076
SAMD11R156Lnot providedUncertain significance
(Dec 6, 2019)
criteria provided, single submitterVCV000855371
69.
GRCh37:
Chr1:874457
GRCh38:
Chr1:939077
SAMD11not providedLikely benign
(Nov 16, 2020)
criteria provided, single submitterVCV001085846
70.
GRCh37:
Chr1:874483
GRCh38:
Chr1:939103
SAMD11K165Tnot providedUncertain significance
(Oct 9, 2020)
criteria provided, single submitterVCV000968364
71.
GRCh37:
Chr1:874492
GRCh38:
Chr1:939112
SAMD11R168Q, R347Qnot providedUncertain significance
(Jun 18, 2020)
criteria provided, single submitterVCV001045276
72.
GRCh37:
Chr1:874495
GRCh38:
Chr1:939115
SAMD11S169N, S348Nnot providedUncertain significance
(Apr 21, 2020)
criteria provided, single submitterVCV001018511
73.
GRCh37:
Chr1:874501
GRCh38:
Chr1:939121
SAMD11S171Lnot providedUncertain significance
(Sep 9, 2020)
criteria provided, single submitterVCV000950252
74.
GRCh37:
Chr1:874502
GRCh38:
Chr1:939122
SAMD11not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV001154094
75.
GRCh37:
Chr1:874502
GRCh38:
Chr1:939122
SAMD11not providedLikely benign
(Nov 21, 2020)
criteria provided, single submitterVCV001123166
76.
GRCh37:
Chr1:874504
GRCh38:
Chr1:939124
SAMD11P172Lnot providedUncertain significance
(Aug 31, 2020)
criteria provided, single submitterVCV000946008
77.
GRCh37:
Chr1:874518
GRCh38:
Chr1:939138
SAMD11not providedLikely benign
(Oct 19, 2020)
criteria provided, single submitterVCV001103016
78.
GRCh37:
Chr1:874526
GRCh38:
Chr1:939146
SAMD11not providedBenign
(Nov 14, 2020)
criteria provided, single submitterVCV001167425
79.
GRCh37:
Chr1:874529
GRCh38:
Chr1:939149
SAMD11not providedLikely benign
(Dec 4, 2020)
criteria provided, single submitterVCV001084710
80.
GRCh37:
Chr1:874658
GRCh38:
Chr1:939278
SAMD11A175V, A354V, A355Vnot providedUncertain significance
(Aug 25, 2020)
criteria provided, single submitterVCV001015275
81.
GRCh37:
Chr1:874665
GRCh38:
Chr1:939285
SAMD11not providedBenign
(Nov 19, 2020)
criteria provided, single submitterVCV001164752
82.
GRCh37:
Chr1:874665
GRCh38:
Chr1:939285
SAMD11not providedLikely benign
(Sep 17, 2020)
criteria provided, single submitterVCV001158939
83.
GRCh37:
Chr1:874670
GRCh38:
Chr1:939290
SAMD11P179L, P358L, P359Lnot providedUncertain significance
(Sep 28, 2020)
criteria provided, single submitterVCV001038863
84.
GRCh37:
Chr1:874714
GRCh38:
Chr1:939334
SAMD11R194W, R373W, R374Wnot providedLikely benign
(Nov 11, 2020)
criteria provided, single submitterVCV001116812
85.
GRCh37:
Chr1:874734
GRCh38:
Chr1:939354
SAMD11not providedBenign
(Nov 25, 2020)
criteria provided, single submitterVCV001165631
86.
GRCh37:
Chr1:874762
GRCh38:
Chr1:939382
SAMD11R210C, R389C, R390Cnot providedLikely benign
(Oct 30, 2020)
criteria provided, single submitterVCV001078617
87.
GRCh37:
Chr1:874778-874779
GRCh38:
Chr1:939398-939399
SAMD11not providedBenign
(Dec 5, 2020)
criteria provided, single submitterVCV001164669
88.
GRCh37:
Chr1:874778-874779
GRCh38:
Chr1:939398-939399
SAMD11not providedLikely benign
(Nov 13, 2020)
criteria provided, single submitterVCV001108252
89.
GRCh37:
Chr1:874779
GRCh38:
Chr1:939399
SAMD11not providedLikely benign
(Nov 4, 2020)
criteria provided, single submitterVCV001111202
90.
GRCh37:
Chr1:874779-874826
GRCh38:
Chr1:939399-939446
SAMD11not providedBenign
(Dec 2, 2020)
criteria provided, single submitterVCV000769497
91.
GRCh37:
Chr1:874809
GRCh38:
Chr1:939429
SAMD11W225Cnot providedBenign
(Oct 7, 2020)
criteria provided, single submitterVCV001167351
92.
GRCh37:
Chr1:874816-874817
GRCh38:
Chr1:939436-939437
SAMD11not providedLikely benign
(Nov 24, 2020)
criteria provided, single submitterVCV001080214
93.
GRCh37:
Chr1:874817-874865
GRCh38:
Chr1:939437-939485
SAMD11not providedBenign
(Nov 23, 2020)
criteria provided, single submitterVCV001164609
94.
GRCh37:
Chr1:874817
GRCh38:
Chr1:939437
SAMD11P228Lnot providedUncertain significance
(Sep 2, 2020)
criteria provided, single submitterVCV001024192
95.
GRCh37:
Chr1:874847
GRCh38:
Chr1:939467
SAMD11not providedLikely benign
(Oct 30, 2020)
criteria provided, single submitterVCV001153597
96.
GRCh37:
Chr1:876528
GRCh38:
Chr1:941148
SAMD11not providedLikely benign
(Aug 20, 2019)
criteria provided, single submitterVCV001084581
97.
GRCh37:
Chr1:876543
GRCh38:
Chr1:941163
SAMD11not providedLikely benign
(Sep 30, 2019)
criteria provided, single submitterVCV001130265
98.
GRCh37:
Chr1:876547
GRCh38:
Chr1:941167
SAMD11V244M, V407M, V408Mnot providedUncertain significance
(Oct 19, 2020)
criteria provided, single submitterVCV001062102
99.
GRCh37:
Chr1:876580
GRCh38:
Chr1:941200
SAMD11L255Vnot providedUncertain significance
(Jan 8, 2020)
criteria provided, single submitterVCV000935894
100.
GRCh37:
Chr1:876592
GRCh38:
Chr1:941212
SAMD11not providedLikely benign
(Apr 7, 2020)
criteria provided, single submitterVCV001129634
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