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Links from MedGen

Items: 94

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:123524444
GRCh38:
Chr11:123653736
SCN3BBrugada syndrome 7Likely benign
(Oct 27, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr11:123513192
GRCh38:
Chr11:123642484
SCN3BK136RBrugada syndrome 7Uncertain significance
(Jun 20, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr11:123504915
GRCh38:
Chr11:123634207
SCN3BBrugada syndrome 7Uncertain significance
(Feb 21, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr11:123516375
GRCh38:
Chr11:123645667
SCN3BS47TBrugada syndrome 7Uncertain significance
(Aug 3, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr11:123516379
GRCh38:
Chr11:123645671
SCN3BBrugada syndrome 7Likely benign
(Mar 16, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr11:123504898
GRCh38:
Chr11:123634190
SCN3BI201VBrugada syndrome 7Uncertain significance
(Oct 17, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr11:123513277
GRCh38:
Chr11:123642569
SCN3BL108FBrugada syndrome 7Uncertain significance
(Apr 9, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr11:123513355
GRCh38:
Chr11:123642647
SCN3BQ82*Brugada syndrome 7Uncertain significance
(Oct 17, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr11:123516422
GRCh38:
Chr11:123645714
SCN3BS31LBrugada syndrome 7Uncertain significance
(Jul 12, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr11:123508959
GRCh38:
Chr11:123638251
SCN3BBrugada syndrome 7Likely benign
(Mar 18, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr11:123513188
GRCh38:
Chr11:123642480
SCN3BCardiovascular phenotype, Brugada syndrome 7Likely benign
(Aug 11, 2023)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr11:123524483
GRCh38:
Chr11:123653775
SCN3BBrugada syndrome 7Likely benign
(Sep 7, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr11:123524460
GRCh38:
Chr11:123653752
SCN3BY17CBrugada syndrome 7Uncertain significance
(Jun 10, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr11:123516419
GRCh38:
Chr11:123645711
SCN3BE32GBrugada syndrome 7Uncertain significance
(Apr 15, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr11:123504881
GRCh38:
Chr11:123634173
SCN3BK206NBrugada syndrome 7Uncertain significance
(Feb 4, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr11:123508937
GRCh38:
Chr11:123638229
SCN3BY181NBrugada syndrome 7Uncertain significance
(Aug 13, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr11:123508894
GRCh38:
Chr11:123638186
SCN3BA195VBrugada syndrome 7Uncertain significance
(Jul 14, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr11:123513163
GRCh38:
Chr11:123642455
SCN3BT146ABrugada syndrome 7Uncertain significance
(Sep 20, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr11:123513298
GRCh38:
Chr11:123642590
SCN3BQ101KBrugada syndrome 7, Cardiovascular phenotypeUncertain significance
(May 25, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr11:123513327
GRCh38:
Chr11:123642619
SCN3BR91HCardiovascular phenotype, Brugada syndrome 7Uncertain significance
(Jun 23, 2023)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr11:123513341
GRCh38:
Chr11:123642633
SCN3BBrugada syndrome 7, Cardiovascular phenotypeLikely benign
(Feb 24, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr11:123513374
GRCh38:
Chr11:123642666
SCN3BBrugada syndrome 7, Cardiovascular phenotypeLikely benign
(Apr 7, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr11:123508904
GRCh38:
Chr11:123638196
SCN3BQ192ECardiovascular phenotype, Brugada syndrome 7Uncertain significance
(Sep 14, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr11:123508943
GRCh38:
Chr11:123638235
SCN3BY179HBrugada syndrome 7, Cardiovascular phenotypeUncertain significance
(Sep 28, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr11:123513228
GRCh38:
Chr11:123642520
SCN3BR124QCardiovascular phenotype, Brugada syndrome 7Uncertain significance
(Jan 6, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr11:123513358
GRCh38:
Chr11:123642650
SCN3BH81YBrugada syndrome 7Uncertain significance
(Oct 8, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr11:123508885
GRCh38:
Chr11:123638177
SCN3BBrugada syndrome 7Likely benign
(Mar 21, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr11:123516448
GRCh38:
Chr11:123645740
SCN3BBrugada syndrome 7Likely benign
(May 3, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr11:123504930
GRCh38:
Chr11:123634222
SCN3BBrugada syndrome 7Likely benign
(Oct 27, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr11:123513343
GRCh38:
Chr11:123642635
SCN3BS86fsCardiovascular phenotype, Brugada syndrome 7Uncertain significance
(Apr 8, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr11:123524452
GRCh38:
Chr11:123653744
SCN3BCardiovascular phenotype, Brugada syndrome 7Uncertain significance
(Jan 27, 2023)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr11:123516293
GRCh38:
Chr11:123645585
SCN3BBrugada syndrome 7Uncertain significance
(Jul 14, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr11:123513202-123513207
GRCh38:
Chr11:123642494-123642499
SCN3BBrugada syndrome 7, Cardiovascular phenotypeUncertain significance
(Apr 27, 2023)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr11:123508891-123508892
GRCh38:
Chr11:123638183-123638184
SCN3BBrugada syndrome 7Uncertain significance
(May 12, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr11:123513207
GRCh38:
Chr11:123642499
SCN3BH131RBrugada syndrome 7Uncertain significance
(Aug 12, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr11:123524464
GRCh38:
Chr11:123653756
SCN3BI16VBrugada syndrome 7Uncertain significance
(Oct 13, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr11:123513339
GRCh38:
Chr11:123642631
SCN3BP87RBrugada syndrome 7, Cardiovascular phenotypeUncertain significance
(Nov 10, 2021)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr11:123513304
GRCh38:
Chr11:123642596
SCN3BD99NBrugada syndrome 7Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr11:123513366
GRCh38:
Chr11:123642658
SCN3BR78QBrugada syndrome 7, Cardiovascular phenotypeUncertain significance
(Dec 14, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr11:123524472
GRCh38:
Chr11:123653764
SCN3BL13PBrugada syndrome 7Uncertain significance
(Sep 14, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr11:123504851-123516478
SCN3BBrugada syndrome 7Uncertain significance
(Jun 9, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr11:123513367
GRCh38:
Chr11:123642659
SCN3BR78WCardiovascular phenotype, Brugada syndrome 7Uncertain significance
(Feb 4, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr11:123524479
GRCh38:
Chr11:123653771
SCN3BA11TBrugada syndrome 7Uncertain significance
(Nov 21, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr11:123516408
GRCh38:
Chr11:123645700
SCN3BV36MBrugada syndrome 7, Cardiovascular phenotypeConflicting interpretations of pathogenicity
(Mar 1, 2023)
criteria provided, conflicting interpretations
45.
GRCh37:
Chr11:123516309
GRCh38:
Chr11:123645601
SCN3BG69SCardiovascular phenotype, Brugada syndrome 7, not provided
Uncertain significance
(Aug 14, 2021)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr11:123524495
GRCh38:
Chr11:123653787
SCN3BCardiovascular phenotype, Brugada syndrome 7Benign/Likely benign
(Oct 16, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr11:123508917
GRCh38:
Chr11:123638209
SCN3BCardiovascular phenotype, Brugada syndrome 7Likely benign
(Aug 19, 2021)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr11:123513290
GRCh38:
Chr11:123642582
SCN3BBrugada syndrome 7, Cardiovascular phenotypeLikely benign
(Aug 11, 2023)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr11:123516340
GRCh38:
Chr11:123645632
SCN3BBrugada syndrome 7, Cardiovascular phenotypeLikely benign
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr11:123508908
GRCh38:
Chr11:123638200
SCN3BCardiovascular phenotype, Brugada syndrome 7Likely benign
(Nov 29, 2019)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr11:123513176
GRCh38:
Chr11:123642468
SCN3BBrugada syndrome 7Likely benign
(Sep 12, 2019)
criteria provided, single submitter
52.
GRCh37:
Chr11:123516415
GRCh38:
Chr11:123645707
SCN3BCardiovascular phenotype, Brugada syndrome 7Likely benign
(Nov 27, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr11:123509039
GRCh38:
Chr11:123638331
SCN3BBrugada syndrome 7Likely benign
(Mar 8, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr11:123516403
GRCh38:
Chr11:123645695
SCN3BBrugada syndrome 7Likely benign
(May 30, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr11:123516316
GRCh38:
Chr11:123645608
SCN3BCardiovascular phenotype, Brugada syndrome 7Likely benign
(Sep 30, 2020)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr11:123504869
GRCh38:
Chr11:123634161
SCN3BCardiovascular phenotype, Brugada syndrome 7Likely benign
(Oct 15, 2020)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr11:123509032
GRCh38:
Chr11:123638324
SCN3BA149GBrugada syndrome 7Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr11:123524496
GRCh38:
Chr11:123653788
SCN3BN5SCardiovascular phenotype, Brugada syndrome 7Uncertain significance
(Mar 9, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr11:123516441
GRCh38:
Chr11:123645733
SCN3BV25LCardiovascular phenotype, Brugada syndrome 7, not provided
Conflicting interpretations of pathogenicity
(Jun 30, 2023)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr11:123516354
GRCh38:
Chr11:123645646
SCN3BV54MBrugada syndrome 7Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr11:123513189
GRCh38:
Chr11:123642481
SCN3BT137MBrugada syndrome 7Uncertain significance
(Jun 20, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr11:123513146
GRCh38:
Chr11:123642438
SCN3BBrugada syndrome 7Likely benign
(Dec 31, 2019)
criteria provided, single submitter
63.
GRCh37:
Chr11:123513203
GRCh38:
Chr11:123642495
SCN3BCardiovascular phenotype, Brugada syndrome 7Likely benign
(Oct 2, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr11:123504959
GRCh38:
Chr11:123634251
SCN3Bnot provided, Brugada syndrome 7Benign
(Jul 15, 2021)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr11:123513205
GRCh38:
Chr11:123642497
SCN3BR132WCardiovascular phenotype, Cardiac arrhythmia, Brugada syndrome 7
Uncertain significance
(Dec 17, 2021)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr11:123513204
GRCh38:
Chr11:123642496
SCN3BR132QInborn genetic diseases, Brugada syndrome 7Uncertain significance
(Nov 17, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr11:123508895
GRCh38:
Chr11:123638187
SCN3BA195TCardiovascular phenotype, not provided, Brugada syndrome 7,
not specified
Uncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr11:123524504
GRCh38:
Chr11:123653796
SCN3BCardiovascular phenotype, not provided, Brugada syndrome 7
Likely benign
(Mar 3, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr11:123516416
GRCh38:
Chr11:123645708
SCN3BT33MCardiovascular phenotype, Brugada syndrome 7Uncertain significance
(Apr 24, 2023)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr11:123504867
GRCh38:
Chr11:123634159
SCN3BV211GBrugada syndrome 7Uncertain significance
(Aug 30, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr11:123504918
GRCh38:
Chr11:123634210
SCN3BCardiovascular phenotype, Brugada syndrome 7Conflicting interpretations of pathogenicity
(Aug 9, 2022)
criteria provided, conflicting interpretations
72.
GRCh37:
Chr11:123513184
GRCh38:
Chr11:123642476
SCN3BR139WCardiovascular phenotype, Brugada syndrome 7Uncertain significance
(Dec 8, 2021)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr11:123508941
GRCh38:
Chr11:123638233
SCN3BCardiovascular phenotype, Brugada syndrome 7Benign/Likely benign
(Nov 11, 2021)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr11:123513260
GRCh38:
Chr11:123642552
SCN3BCardiovascular phenotype, not specified, Brugada syndrome 7
Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr11:123513350
GRCh38:
Chr11:123642642
SCN3BBrugada syndrome 7, Cardiovascular phenotypeBenign/Likely benign
(May 30, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr11:123516315
GRCh38:
Chr11:123645607
SCN3BE67KBrugada syndrome 7, not provided, Long QT syndrome
Uncertain significance
(Jul 24, 2023)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr11:123504885
GRCh38:
Chr11:123634177
SCN3BN205SCardiovascular phenotype, not provided, Brugada syndrome 7
Uncertain significance
(Aug 24, 2021)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr11:123513272
GRCh38:
Chr11:123642564
SCN3BCardiovascular phenotype, not provided, Brugada syndrome 7
Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr11:123524448
GRCh38:
Chr11:123653740
SCN3Bnot specified, Brugada syndrome 7Likely benign
(Jul 25, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr11:123524970
GRCh38:
Chr11:123654262
SCN3BBrugada syndrome, Brugada syndrome 7Uncertain significance
(Nov 2, 2021)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr11:123516421
GRCh38:
Chr11:123645713
SCN3BBrugada syndrome 7, Cardiovascular phenotypeLikely benign
(Jul 29, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr11:123513209
GRCh38:
Chr11:123642501
SCN3BCardiovascular phenotype, not provided, not specified,
Brugada syndrome 7
Benign/Likely benign
(Jun 1, 2023)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr11:123516409
GRCh38:
Chr11:123645701
SCN3BCardiovascular phenotype, not specified, Brugada syndrome 7,
not provided
Benign/Likely benign
(Oct 19, 2023)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr11:123513161
GRCh38:
Chr11:123642453
SCN3Bnot provided, Brugada syndrome 7, Cardiovascular phenotype,
not specified
Benign
(Apr 9, 2023)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr11:123513176
GRCh38:
Chr11:123642468
SCN3BI141MBrugada syndrome 7Uncertain significance
(Sep 22, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr11:123513183
GRCh38:
Chr11:123642475
SCN3BR139QCardiovascular phenotype, not provided, not specified,
Brugada syndrome 7
Uncertain significance
(Jul 2, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr11:123513271
GRCh38:
Chr11:123642563
SCN3BV110ICardiovascular phenotype, not specified, not provided,
Cardiomyopathy, Brugada syndrome 7
Conflicting interpretations of pathogenicity
(Feb 15, 2023)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr11:123516316
GRCh38:
Chr11:123645608
SCN3BCardiovascular phenotype, not provided, not specified,
Brugada syndrome 7
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr11:123504870
GRCh38:
Chr11:123634162
SCN3BA210VCardiovascular phenotype, not specified, Brugada syndrome 7
Benign/Likely benign
(Mar 3, 2023)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr11:123508896
GRCh38:
Chr11:123638188
SCN3BCardiovascular phenotype, not specified, Brugada syndrome 7
Benign/Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr11:123513210
GRCh38:
Chr11:123642502
SCN3BA130Vnot provided, Brugada syndrome 7Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr11:123516353
GRCh38:
Chr11:123645645
SCN3BV54GCardiovascular phenotype, not provided, Brugada syndrome 7
Uncertain significance
(Nov 20, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr11:123513209
GRCh38:
Chr11:123642501
SCN3BCardiovascular phenotype, not specified, not provided,
Brugada syndrome 7
Benign/Likely benign
(Oct 19, 2022)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr11:123524481
GRCh38:
Chr11:123653773
SCN3BL10PCardiovascular phenotype, not specified, not provided,
Brugada syndrome, Brugada syndrome 7
Conflicting interpretations of pathogenicity
(Sep 22, 2023)
criteria provided, conflicting interpretations
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