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Links from MedGen

Items: 1 to 100 of 106

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr11:118039392
GRCh38:
Chr11:118168677
SCN2BP49SAtrial fibrillation, familial, 14Uncertain significance
(Mar 30, 2021)		criteria provided, single submitter
2.
GRCh37:
Chr11:118039451
GRCh38:
Chr11:118168736
SCN2BS29NAtrial fibrillation, familial, 14Uncertain significance
(Aug 13, 2021)		criteria provided, single submitter
3.
GRCh37:
Chr11:118037597
GRCh38:
Chr11:118166882
SCN2BAtrial fibrillation, familial, 14Uncertain significance
(Mar 18, 2020)		criteria provided, single submitter
4.
GRCh37:
Chr11:118039398
GRCh38:
Chr11:118168683
SCN2BR47CAtrial fibrillation, familial, 14Uncertain significance
(Sep 23, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr11:118038974
GRCh38:
Chr11:118168259
SCN2BL92VAtrial fibrillation, familial, 14Uncertain significance
(Jul 30, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr11:118037728
GRCh38:
Chr11:118167013
SCN2BI174MAtrial fibrillation, familial, 14Uncertain significance
(Jan 11, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr11:118039421
GRCh38:
Chr11:118168706
SCN2BN39SAtrial fibrillation, familial, 14Uncertain significance
(Jun 25, 2022)		criteria provided, single submitter
8.
GRCh37:
Chr11:118038787
GRCh38:
Chr11:118168072
SCN2BAtrial fibrillation, familial, 14Likely benign
(Apr 12, 2022)		criteria provided, single submitter
9.
GRCh37:
Chr11:118037742
GRCh38:
Chr11:118167027
SCN2BAtrial fibrillation, familial, 14Likely benign
(Oct 10, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr11:118038980
GRCh38:
Chr11:118168265
SCN2BAtrial fibrillation, familial, 14Likely benign
(May 6, 2022)		criteria provided, single submitter
11.
GRCh37:
Chr11:118047060
GRCh38:
Chr11:118176345
SCN2BAtrial fibrillation, familial, 14Likely benign
(May 4, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr11:118037677
GRCh38:
Chr11:118166962
SCN2BS192fsAtrial fibrillation, familial, 14Uncertain significance
(Apr 12, 2022)		criteria provided, single submitter
13.
GRCh37:
Chr11:118047119
GRCh38:
Chr11:118176404
SCN2BP10SAtrial fibrillation, familial, 14Uncertain significance
(Feb 20, 2022)		criteria provided, single submitter
14.
GRCh37:
Chr11:118039456
GRCh38:
Chr11:118168741
SCN2BAtrial fibrillation, familial, 14Likely benign
(Nov 1, 2022)		criteria provided, single submitter
15.
GRCh37:
Chr11:118038927
GRCh38:
Chr11:118168212
SCN2BAtrial fibrillation, familial, 14Likely benign
(Aug 24, 2022)		criteria provided, single submitter
16.
GRCh37:
Chr11:118037760
GRCh38:
Chr11:118167045
SCN2BA164TAtrial fibrillation, familial, 14Uncertain significance
(Aug 22, 2022)		criteria provided, single submitter
17.
GRCh37:
Chr11:118038852
GRCh38:
Chr11:118168137
SCN2BAtrial fibrillation, familial, 14Likely benign
(Jul 23, 2022)		criteria provided, single submitter
18.
GRCh37:
Chr11:118039427
GRCh38:
Chr11:118168712
SCN2BT37IAtrial fibrillation, familial, 14, Cardiovascular phenotypeUncertain significance
(Apr 12, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr11:118037672
GRCh38:
Chr11:118166957
SCN2BT193ICardiovascular phenotype, Atrial fibrillation, familial, 14Uncertain significance
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr11:118037696
GRCh38:
Chr11:118166981
SCN2BR185TCardiovascular phenotype, Atrial fibrillation, familial, 14Uncertain significance
(Jun 5, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr11:118047094
GRCh38:
Chr11:118176379
SCN2BS18NAtrial fibrillation, familial, 14, Cardiovascular phenotypeUncertain significance
(Sep 29, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr11:118038910
GRCh38:
Chr11:118168195
SCN2BM113TAtrial fibrillation, familial, 14, Cardiovascular phenotypeConflicting interpretations of pathogenicity
(Oct 14, 2022)		criteria provided, conflicting interpretations
23.
GRCh37:
Chr11:118037752
GRCh38:
Chr11:118167037
SCN2BAtrial fibrillation, familial, 14Likely benign
(May 19, 2022)		criteria provided, single submitter
24.
GRCh37:
Chr11:118037727
GRCh38:
Chr11:118167012
SCN2BAtrial fibrillation, familial, 14Likely benign
(Dec 18, 2020)		criteria provided, single submitter
25.
GRCh37:
Chr11:118037683
GRCh38:
Chr11:118166968
SCN2BAtrial fibrillation, familial, 14Likely benign
(Nov 28, 2020)		criteria provided, single submitter
26.
GRCh37:
Chr11:118037813-118037814
GRCh38:
Chr11:118167098-118167099
SCN2BAtrial fibrillation, familial, 14Likely benign
(Jul 19, 2022)		criteria provided, single submitter
27.
GRCh37:
Chr11:118039393
GRCh38:
Chr11:118168678
SCN2BCardiovascular phenotype, Atrial fibrillation, familial, 14Likely benign
(Sep 2, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr11:118047080
GRCh38:
Chr11:118176365
SCN2BAtrial fibrillation, familial, 14Likely benign
(Sep 17, 2021)		criteria provided, single submitter
29.
GRCh37:
Chr11:118039281
GRCh38:
Chr11:118168566
SCN2BAtrial fibrillation, familial, 14Likely benign
(Jul 31, 2021)		criteria provided, single submitter
30.
GRCh37:
Chr11:118037754
GRCh38:
Chr11:118167039
SCN2BV166IInborn genetic diseases, Atrial fibrillation, familial, 14Likely benign
(Aug 14, 2023)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr11:118047062
GRCh38:
Chr11:118176347
SCN2BAtrial fibrillation, familial, 14Likely benign
(Aug 15, 2021)		criteria provided, single submitter
32.
GRCh37:
Chr11:118039381
GRCh38:
Chr11:118168666
SCN2BAtrial fibrillation, familial, 14Likely benign
(Sep 23, 2021)		criteria provided, single submitter
33.
GRCh37:
Chr11:118038921
GRCh38:
Chr11:118168206
SCN2BAtrial fibrillation, familial, 14Likely benign
(Mar 11, 2021)		criteria provided, single submitter
34.
GRCh37:
Chr11:118039423
GRCh38:
Chr11:118168708
SCN2BAtrial fibrillation, familial, 14Likely benign
(Feb 10, 2022)		criteria provided, single submitter
35.
GRCh37:
Chr11:118037634
GRCh38:
Chr11:118166919
SCN2BG206SAtrial fibrillation, familial, 14Uncertain significance
(Jul 19, 2022)		criteria provided, single submitter
36.
GRCh37:
Chr11:118039301
GRCh38:
Chr11:118168586
SCN2BM79TAtrial fibrillation, familial, 14Uncertain significance
(Aug 9, 2022)		criteria provided, single submitter
37.
GRCh37:
Chr11:118038860
GRCh38:
Chr11:118168145
SCN2BM130LAtrial fibrillation, familial, 14Uncertain significance
(Sep 24, 2021)		criteria provided, single submitter
38.
GRCh37:
Chr11:118039412
GRCh38:
Chr11:118168697
SCN2BN42SAtrial fibrillation, familial, 14Uncertain significance
(Aug 31, 2021)		criteria provided, single submitter
39.
GRCh37:
Chr11:118038904
GRCh38:
Chr11:118168189
SCN2BR115KAtrial fibrillation, familial, 14Uncertain significance
(Aug 16, 2022)		criteria provided, single submitter
40.
GRCh37:
Chr11:118037798
GRCh38:
Chr11:118167083
SCN2BP151HCardiovascular phenotype, Atrial fibrillation, familial, 14Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr11:118038905
GRCh38:
Chr11:118168190
SCN2BR115GCardiovascular phenotype, Atrial fibrillation, familial, 14Conflicting interpretations of pathogenicity
(Dec 11, 2022)		criteria provided, conflicting interpretations
42.
GRCh37:
Chr11:118039385
GRCh38:
Chr11:118168670
SCN2BT51IAtrial fibrillation, familial, 14Uncertain significance
(Aug 12, 2021)		criteria provided, single submitter
43.
GRCh37:
Chr11:118039428
GRCh38:
Chr11:118168713
SCN2BT37AAtrial fibrillation, familial, 14Uncertain significance
(Sep 1, 2021)		criteria provided, single submitter
44.
GRCh37:
Chr11:118047057-118047146
SCN2BAtrial fibrillation, familial, 14Uncertain significance
(May 30, 2021)		criteria provided, single submitter
45.
GRCh37:
Chr11:118038794
GRCh38:
Chr11:118168079
SCN2BAtrial fibrillation, familial, 14Uncertain significance
(Oct 28, 2021)		criteria provided, single submitter
46.
GRCh37:
Chr11:118038949
GRCh38:
Chr11:118168234
SCN2BE100GAtrial fibrillation, familial, 14Uncertain significance
(Aug 19, 2022)		criteria provided, single submitter
47.
GRCh37:
Chr11:118038981
GRCh38:
Chr11:118168266
SCN2BN89KAtrial fibrillation, familial, 14Uncertain significance
(May 1, 2022)		criteria provided, single submitter
48.
GRCh37:
Chr11:118037628
GRCh38:
Chr11:118166913
SCN2BG208SAtrial fibrillation, familial, 14Uncertain significance
(Nov 4, 2021)		criteria provided, single submitter
49.
GRCh37:
Chr11:118038953
GRCh38:
Chr11:118168238
SCN2BV99LCardiovascular phenotype, Atrial fibrillation, familial, 14Uncertain significance
(Jul 11, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr11:118037638
GRCh38:
Chr11:118166923
SCN2BAtrial fibrillation, familial, 14, Cardiovascular phenotypeBenign/Likely benign
(Apr 18, 2023)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr11:118039411
GRCh38:
Chr11:118168696
SCN2BCardiovascular phenotype, Atrial fibrillation, familial, 14Likely benign
(Aug 21, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr11:118038924
GRCh38:
Chr11:118168209
SCN2BAtrial fibrillation, familial, 14Likely benign
(Jul 16, 2020)		criteria provided, single submitter
53.
GRCh37:
Chr11:118037620
GRCh38:
Chr11:118166905
SCN2BAtrial fibrillation, familial, 14Likely benign
(Jul 17, 2019)		criteria provided, single submitter
54.
GRCh37:
Chr11:118037689
GRCh38:
Chr11:118166974
SCN2BAtrial fibrillation, familial, 14Likely benign
(Sep 24, 2020)		criteria provided, single submitter
55.
GRCh37:
Chr11:118038894
GRCh38:
Chr11:118168179
SCN2BAtrial fibrillation, familial, 14Likely benign
(Feb 2, 2021)		criteria provided, single submitter
56.
GRCh37:
Chr11:118037611
GRCh38:
Chr11:118166896
SCN2BAtrial fibrillation, familial, 14Likely benign
(Aug 10, 2022)		criteria provided, single submitter
57.
GRCh37:
Chr11:118037656
GRCh38:
Chr11:118166941
SCN2BAtrial fibrillation, familial, 14Likely benign
(Aug 25, 2020)		criteria provided, single submitter
58.
GRCh37:
Chr11:118037755
GRCh38:
Chr11:118167040
SCN2BAtrial fibrillation, familial, 14, Cardiovascular phenotypeLikely benign
(Jul 23, 2020)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr11:118038956
GRCh38:
Chr11:118168241
SCN2BR98CAtrial fibrillation, familial, 14, Cardiovascular phenotypeUncertain significance
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr11:118038836
GRCh38:
Chr11:118168121
SCN2BG138SAtrial fibrillation, familial, 14, Inborn genetic diseasesUncertain significance
(Aug 5, 2023)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr11:118039300
GRCh38:
Chr11:118168585
SCN2BM79ICardiovascular phenotype, Atrial fibrillation, familial, 14Uncertain significance
(Oct 22, 2021)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr11:118047142
GRCh38:
Chr11:118176427
SCN2BH2RAtrial fibrillation, familial, 14Uncertain significance
(Jan 21, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr11:118039383
GRCh38:
Chr11:118168668
SCN2BF52LAtrial fibrillation, familial, 14Uncertain significance
(Mar 18, 2022)		criteria provided, single submitter
64.
GRCh37:
Chr11:118038993
GRCh38:
Chr11:118168278
SCN2BM85IAtrial fibrillation, familial, 14Uncertain significance
(Sep 1, 2021)		criteria provided, single submitter
65.
GRCh37:
Chr11:118037610
GRCh38:
Chr11:118166895
SCN2BA214TAtrial fibrillation, familial, 14, Cardiovascular phenotypeConflicting interpretations of pathogenicity
(Sep 13, 2022)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr11:118038967
GRCh38:
Chr11:118168252
SCN2BR94QAtrial fibrillation, familial, 14, Cardiovascular phenotype, not specified
Uncertain significance
(Jul 29, 2023)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr11:118037687
GRCh38:
Chr11:118166972
SCN2BE188GAtrial fibrillation, familial, 14Uncertain significance
(Aug 24, 2021)		criteria provided, single submitter
68.
GRCh37:
Chr11:118038900
GRCh38:
Chr11:118168185
SCN2BCardiovascular phenotype, Atrial fibrillation, familial, 14Likely benign
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr11:118047108
GRCh38:
Chr11:118176393
SCN2BAtrial fibrillation, familial, 14Likely benign
(Oct 8, 2020)		criteria provided, single submitter
70.
GRCh37:
Chr11:118038908
GRCh38:
Chr11:118168193
SCN2BCardiovascular phenotype, Atrial fibrillation, familial, 14Likely benign
(Apr 8, 2021)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr11:118037780
GRCh38:
Chr11:118167065
SCN2BT157MCardiovascular phenotype, Atrial fibrillation, familial, 14, not provided
Likely benign
(May 24, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr11:118038953
GRCh38:
Chr11:118168238
SCN2BV99MCardiovascular phenotype, Atrial fibrillation, familial, 14Uncertain significance
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr11:118037639
GRCh38:
Chr11:118166924
SCN2BT204MCardiovascular phenotype, not provided, Atrial fibrillation, familial, 14
Likely benign
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr11:118039444
GRCh38:
Chr11:118168729
SCN2BE31DAtrial fibrillation, familial, 14Uncertain significance
(Aug 24, 2021)		criteria provided, single submitter
75.
GRCh37:
Chr11:118037789
GRCh38:
Chr11:118167074
SCN2BR154QCardiovascular phenotype, Atrial fibrillation, familial, 14Uncertain significance
(Feb 26, 2023)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr11:118039332
GRCh38:
Chr11:118168617
SCN2BY69HCardiovascular phenotype, Atrial fibrillation, familial, 14Uncertain significance
(Aug 3, 2023)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr11:118047102
GRCh38:
Chr11:118176387
SCN2BCardiovascular phenotype, not specified, Atrial fibrillation, familial, 14
Likely benign
(Apr 16, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr11:118037752
GRCh38:
Chr11:118167037
SCN2BCardiovascular phenotype, Atrial fibrillation, familial, 14, not provided
Benign/Likely benign
(Oct 14, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr11:118038891
GRCh38:
Chr11:118168176
SCN2BCardiovascular phenotype, Atrial fibrillation, familial, 14, not provided
Likely benign
(Apr 19, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr11:118039402
GRCh38:
Chr11:118168687
SCN2BCardiovascular phenotype, Atrial fibrillation, familial, 14, not provided
Likely benign
(Jan 1, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr11:118038892
GRCh38:
Chr11:118168177
SCN2BP119LAtrial fibrillation, familial, 14, not specified, Cardiovascular phenotype
Likely benign
(Jun 23, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr11:118037773
GRCh38:
Chr11:118167058
SCN2BCardiovascular phenotype, Atrial fibrillation, familial, 14, not specified
Likely benign
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr11:118038840
GRCh38:
Chr11:118168125
SCN2BCardiovascular phenotype, Atrial fibrillation, familial, 14, not specified
Likely benign
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr11:118039408
GRCh38:
Chr11:118168693
SCN2Bnot provided, Cardiovascular phenotype, Atrial fibrillation, familial, 14
Likely benign
(Oct 26, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr11:118047065-118047066
GRCh38:
Chr11:118176350-118176351
SCN2Bnot provided, Atrial fibrillation, familial, 14Benign
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr11:118038899
GRCh38:
Chr11:118168184
SCN2BV117MAtrial fibrillation, familial, 14Uncertain significance
(Aug 26, 2021)		criteria provided, single submitter
87.
GRCh37:
Chr11:118039016
GRCh38:
Chr11:118168301
SCN2BAtrial fibrillation, familial, 14Likely benign
(Apr 21, 2017)		criteria provided, single submitter
88.
GRCh37:
Chr11:118037624-118037625
GRCh38:
Chr11:118166909-118166910
SCN2BN209PCardiovascular phenotype, not provided, Atrial fibrillation, familial, 14
Conflicting interpretations of pathogenicity
(Nov 14, 2022)		criteria provided, conflicting interpretations
89.
GRCh37:
Chr11:118039387
GRCh38:
Chr11:118168672
SCN2BAtrial fibrillation, familial, 14Likely benign
(Jun 20, 2016)		criteria provided, single submitter
90.
GRCh37:
Chr11:118037635
GRCh38:
Chr11:118166920
SCN2BCardiovascular phenotype, Atrial fibrillation, familial, 14Likely benign
(Oct 7, 2021)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr11:118038997
GRCh38:
Chr11:118168282
SCN2BR84HCardiovascular phenotype, Atrial fibrillation, familial, 14Uncertain significance
(Jan 15, 2023)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr11:118038956
GRCh38:
Chr11:118168241
SCN2BR98GAtrial fibrillation, familial, 14, not providedUncertain significance
(Jan 12, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr11:118038998
GRCh38:
Chr11:118168283
SCN2BR84CAtrial fibrillation, familial, 14, Cardiovascular phenotypeUncertain significance
(Jun 4, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr11:118039397
GRCh38:
Chr11:118168682
SCN2BR47HAtrial fibrillation, familial, 14, Cardiovascular phenotypeConflicting interpretations of pathogenicity
(Sep 19, 2022)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr11:118037672
GRCh38:
Chr11:118166957
SCN2BT193RAtrial fibrillation, familial, 14, not provided, Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Aug 17, 2022)		criteria provided, conflicting interpretations
96.
GRCh37:
Chr11:118037772
GRCh38:
Chr11:118167057
SCN2BV160MAtrial fibrillation, familial, 14, Cardiovascular phenotypeUncertain significance
(Oct 19, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr11:118037813
GRCh38:
Chr11:118167098
SCN2BAtrial fibrillation, familial, 14, not specifiedBenign
(Apr 4, 2023)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr11:118038838
GRCh38:
Chr11:118168123
SCN2BR137HCardiovascular phenotype, Atrial fibrillation, familial, 14Uncertain significance
(Nov 19, 2021)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr11:118047122
GRCh38:
Chr11:118176407
SCN2BR9CAtrial fibrillation, familial, 14Uncertain significance
(Sep 1, 2021)		criteria provided, single submitter
100.
GRCh37:
Chr11:118037803
GRCh38:
Chr11:118167088
SCN2BAtrial fibrillation, familial, 14Uncertain significance
(Mar 18, 2016)		criteria provided, single submitter
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