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Items: 1 to 100 of 427

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr17:62019224
GRCh38:
Chr17:63941864
GH-LCR, SCN4AF1473SParamyotonia congenita of Von EulenburgLikely pathogenic
(Jul 11, 2023)		criteria provided, single submitter
2.
GRCh37:
Chr17:62041982
GRCh38:
Chr17:63964622
SCN4AL433RParamyotonia congenita of Von EulenburgUncertain significance
(Nov 3, 2021)		criteria provided, single submitter
3.
GRCh37:
Chr17:62022737
GRCh38:
Chr17:63945377
GH-LCR, SCN4AL1235FParamyotonia congenita of Von Eulenburg, Inborn genetic diseasesUncertain significance
(Aug 17, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr2:109371664
GRCh38:
Chr2:108755208
RANBP2E805DPotassium-aggravated myotonia, Periodic hyperkalemic paralysis, Paramyotonia congenita of Von Eulenburg,
Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16		Uncertain significance
(Feb 14, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr17:62026839
GRCh38:
Chr17:63949479
GH-LCR, SCN4AA968DPotassium-aggravated myotonia, Periodic hyperkalemic paralysis, Paramyotonia congenita of Von Eulenburg,
Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16		Uncertain significance
(Feb 14, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr17:62038542
GRCh38:
Chr17:63961182
SCN4AHypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Periodic hyperkalemic paralysis,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16,
Periodic hyperkalemic paralysis		Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr17:62038541
GRCh38:
Chr17:63961181
SCN4APeriodic hyperkalemic paralysis, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Periodic hyperkalemic paralysis, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Congenital myasthenic syndrome 16		Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr17:62043619
GRCh38:
Chr17:63966259
SCN4APeriodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Periodic hyperkalemic paralysis		Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr17:62018359
GRCh38:
Chr17:63940999
GH-LCR, SCN4APeriodic hyperkalemic paralysis, Hypokalemic periodic paralysis, type 1, Paramyotonia congenita of Von Eulenburg,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16,
Periodic hyperkalemic paralysis		Likely benign
(Jul 11, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr17:62025230
GRCh38:
Chr17:63947870
GH-LCR, SCN4ACongenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Periodic hyperkalemic paralysis,
Periodic hyperkalemic paralysis		Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr17:62025235
GRCh38:
Chr17:63947875
GH-LCR, SCN4ACongenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Periodic hyperkalemic paralysis,
Periodic hyperkalemic paralysis		Likely benign
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr17:62019016
GRCh38:
Chr17:63941656
GH-LCR, SCN4ACongenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Periodic hyperkalemic paralysis,
Periodic hyperkalemic paralysis		Likely benign
(Nov 17, 2021)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr17:62038811
GRCh38:
Chr17:63961451
SCN4APeriodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Periodic hyperkalemic paralysis		Likely benign
(Jul 11, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr17:62038808
GRCh38:
Chr17:63961448
SCN4AHypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1, Periodic hyperkalemic paralysis,
Periodic hyperkalemic paralysis		Benign/Likely benign
(Sep 21, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr17:62038643
GRCh38:
Chr17:63961283
SCN4APeriodic hyperkalemic paralysis, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Periodic hyperkalemic paralysis		Likely benign
(Apr 12, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr17:62028952
GRCh38:
Chr17:63951592
GH-LCR, SCN4AHypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1, Periodic hyperkalemic paralysis,
Periodic hyperkalemic paralysis		Likely benign
(Jun 19, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr17:62022156
GRCh38:
Chr17:63944796
GH-LCR, SCN4AHypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1, Periodic hyperkalemic paralysis,
Periodic hyperkalemic paralysis		Likely benign
(Jun 20, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr17:62026129
GRCh38:
Chr17:63948769
GH-LCR, SCN4APeriodic hyperkalemic paralysis, Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1,
Paramyotonia congenita of Von Eulenburg, Potassium-aggravated myotonia, Periodic hyperkalemic paralysis,
Congenital myasthenic syndrome 16		Likely benign
(Jun 26, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr17:62038535
GRCh38:
Chr17:63961175
SCN4APeriodic hyperkalemic paralysis, Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1,
Paramyotonia congenita of Von Eulenburg, Potassium-aggravated myotonia, Periodic hyperkalemic paralysis,
Congenital myasthenic syndrome 16		Likely benign
(Oct 8, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr17:62026907
GRCh38:
Chr17:63949547
GH-LCR, SCN4APeriodic hyperkalemic paralysis, Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1,
Paramyotonia congenita of Von Eulenburg, Potassium-aggravated myotonia, Periodic hyperkalemic paralysis,
Congenital myasthenic syndrome 16		Likely benign
(Mar 27, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr17:62049157
GRCh38:
Chr17:63971797
SCN4AR179QPeriodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis, not provided		Uncertain significance
(Mar 17, 2023)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr17:62026837
GRCh38:
Chr17:63949477
GH-LCR, SCN4AD969NPeriodic hyperkalemic paralysis, Paramyotonia congenita of Von EulenburgUncertain significance
(Feb 10, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr17:62018147
GRCh38:
Chr17:63940787
GH-LCR, SCN4AK1832RPeriodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Uncertain significance
(Jan 2, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr17:62045653
GRCh38:
Chr17:63968293
SCN4AL256FPeriodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Uncertain significance
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr17:62043497
GRCh38:
Chr17:63966137
SCN4AM403VPeriodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Uncertain significance
(May 17, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr17:62024475
GRCh38:
Chr17:63947115
GH-LCR, SCN4AP1124HPeriodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1,
Periodic hyperkalemic paralysis, not provided		Uncertain significance
(May 1, 2023)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr17:62050138
GRCh38:
Chr17:63972778
SCN4AR22WPeriodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr17:62019249
GRCh38:
Chr17:63941889
GH-LCR, SCN4AA1465SCongenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg, Periodic hyperkalemic paralysis,
Periodic hyperkalemic paralysis		Uncertain significance
(Jul 9, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr17:62018232
GRCh38:
Chr17:63940872
GH-LCR, SCN4AT1804ACongenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg, Periodic hyperkalemic paralysis,
Periodic hyperkalemic paralysis, not provided		Uncertain significance
(Aug 18, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr17:62029137
GRCh38:
Chr17:63951777
GH-LCR, SCN4AG834SPeriodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis, not provided, Inborn genetic diseases
Conflicting interpretations of pathogenicity
(Apr 11, 2023)		criteria provided, conflicting interpretations
31.
GRCh37:
Chr17:62049520
GRCh38:
Chr17:63972160
SCN4AP153Lnot provided, Periodic hyperkalemic paralysis, Paramyotonia congenita of Von Eulenburg,
Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2, Periodic hyperkalemic paralysis,
Potassium-aggravated myotonia, Congenital myasthenic syndrome 16		Uncertain significance
(Jan 1, 2023)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr17:62048546
GRCh38:
Chr17:63971186
SCN4AL227FPeriodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis, not provided		Uncertain significance
(Oct 3, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr17:62043877
GRCh38:
Chr17:63966517
SCN4AN355SPeriodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis, not provided		Uncertain significance
(Jun 22, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr17:62018367
GRCh38:
Chr17:63941007
GH-LCR, SCN4AD1759NPeriodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg,
not provided, Periodic hyperkalemic paralysis		Uncertain significance
(Sep 29, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr17:62041998
GRCh38:
Chr17:63964638
SCN4AV428LPeriodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Uncertain significance
(Dec 18, 2021)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr17:62041029
GRCh38:
Chr17:63963669
SCN4APeriodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Uncertain significance
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr17:62036770
GRCh38:
Chr17:63959410
SCN4AM625TPeriodic hyperkalemic paralysis, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Uncertain significance
(Jun 20, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr17:62026078
GRCh38:
Chr17:63948718
GH-LCR, SCN4AR1013Cnot provided, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis, Periodic hyperkalemic paralysis, Inborn genetic diseases
Uncertain significance
(May 9, 2023)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr17:62018227
GRCh38:
Chr17:63940867
GH-LCR, SCN4AM1805Inot provided, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis, Periodic hyperkalemic paralysis		Uncertain significance
(Dec 8, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr17:62049119
GRCh38:
Chr17:63971759
SCN4AP192SHypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg, Periodic hyperkalemic paralysis,
Periodic hyperkalemic paralysis		Uncertain significance
(Aug 10, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr17:62026879
GRCh38:
Chr17:63949519
GH-LCR, SCN4AQ955KHypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg, Periodic hyperkalemic paralysis,
Periodic hyperkalemic paralysis		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr17:62050021
GRCh38:
Chr17:63972661
SCN4AG61SHypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Periodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Uncertain significance
(Jun 10, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr17:62018405
GRCh38:
Chr17:63941045
GH-LCR, SCN4AS1746FHypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Periodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Uncertain significance
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr17:62050012
GRCh38:
Chr17:63972652
SCN4AL64VInborn genetic diseases, not provided, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Periodic hyperkalemic paralysis,
Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16, Periodic hyperkalemic paralysis
Uncertain significance
(Oct 19, 2023)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr17:62028926
GRCh38:
Chr17:63951566
GH-LCR, SCN4AP904QHypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Periodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Uncertain significance
(Mar 11, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr17:62038585
GRCh38:
Chr17:63961225
SCN4AH605YPeriodic hyperkalemic paralysis, Hypokalemic periodic paralysis, type 1, Paramyotonia congenita of Von Eulenburg,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16,
Periodic hyperkalemic paralysis		Uncertain significance
(Aug 15, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr17:62018177
GRCh38:
Chr17:63940817
GH-LCR, SCN4AP1822HHypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Periodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Uncertain significance
(Jan 12, 2022)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr17:62036645
GRCh38:
Chr17:63959285
SCN4AV667MHypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Periodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Uncertain significance
(Oct 5, 2021)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr17:62020207
GRCh38:
Chr17:63942847
GH-LCR, SCN4AV1423IHypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Periodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Uncertain significance
(Nov 9, 2021)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr17:62026125
GRCh38:
Chr17:63948765
GH-LCR, SCN4AA997VHypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Periodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Uncertain significance
(Sep 3, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr17:62018994
GRCh38:
Chr17:63941634
SCN4A, GH-LCRP1550SHypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Periodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
not provided, Periodic hyperkalemic paralysis		Uncertain significance
(Jul 25, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr17:62048552
GRCh38:
Chr17:63971192
SCN4AR225WPeriodic hyperkalemic paralysis, Congenital myasthenic syndrome 16Uncertain significance
(Dec 8, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr17:62041095
GRCh38:
Chr17:63963735
SCN4AG515Rnot provided, Periodic hyperkalemic paralysis, Potassium-aggravated myotonia,
Hypokalemic periodic paralysis, type 2, Periodic hyperkalemic paralysis, Paramyotonia congenita of Von Eulenburg,
Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16		Uncertain significance
(Jul 14, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr17:62050111
GRCh38:
Chr17:63972751
SCN4AR31WPotassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Periodic hyperkalemic paralysis,
not provided, Inborn genetic diseases		Uncertain significance
(Aug 20, 2023)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr17:62050147
GRCh38:
Chr17:63972787
SCN4AP19SPotassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Periodic hyperkalemic paralysis,
not provided		Uncertain significance
(Jan 11, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr17:62028997-62028999
GRCh38:
Chr17:63951637-63951639
GH-LCR, SCN4AK880delPotassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Periodic hyperkalemic paralysis,
not provided, Periodic hyperkalemic paralysis		Uncertain significance
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr17:62024461
GRCh38:
Chr17:63947101
GH-LCR, SCN4AR1129WPeriodic hyperkalemic paralysis, not provided, Paramyotonia congenita of Von Eulenburg,
Hypokalemic periodic paralysis, type 2, Periodic hyperkalemic paralysis, Potassium-aggravated myotonia,
Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16		Uncertain significance
(Sep 7, 2021)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr17:62018194
GRCh38:
Chr17:63940834
SCN4A, GH-LCRPeriodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Likely benign
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr17:62026784
GRCh38:
Chr17:63949424
GH-LCR, SCN4ACongenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg, Periodic hyperkalemic paralysis,
Periodic hyperkalemic paralysis		Likely benign
(Oct 8, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr17:62045723
GRCh38:
Chr17:63968363
SCN4AHypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Paramyotonia congenita of Von Eulenburg, Periodic hyperkalemic paralysis, Congenital myasthenic syndrome 16,
Periodic hyperkalemic paralysis		Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr17:62049217
GRCh38:
Chr17:63971857
SCN4AHypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Paramyotonia congenita of Von Eulenburg, Periodic hyperkalemic paralysis, Congenital myasthenic syndrome 16,
Periodic hyperkalemic paralysis		Likely benign
(Jul 18, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr17:62018755
GRCh38:
Chr17:63941395
GH-LCR, SCN4APeriodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Potassium-aggravated myotonia,
Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Likely benign
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr17:62028777
GRCh38:
Chr17:63951417
GH-LCR, SCN4APeriodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Potassium-aggravated myotonia,
Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Likely benign
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr17:62019319
GRCh38:
Chr17:63941959
GH-LCR, SCN4APeriodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Potassium-aggravated myotonia,
Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Likely benign
(Aug 29, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr17:62029186
GRCh38:
Chr17:63951826
GH-LCR, SCN4ACongenital myasthenic syndrome 16, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg, Periodic hyperkalemic paralysis,
Periodic hyperkalemic paralysis		Likely benign
(Jun 4, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr17:62041078
GRCh38:
Chr17:63963718
SCN4AHypokalemic periodic paralysis, type 1, Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Periodic hyperkalemic paralysis,
Periodic hyperkalemic paralysis		Likely benign
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr17:62034790
GRCh38:
Chr17:63957430
GH-LCR, SCN4AL703PParamyotonia congenita of Von EulenburgLikely pathogenic
(Jun 26, 2020)		no assertion criteria provided
68.
GRCh37:
Chr17:62018403
GRCh38:
Chr17:63941043
SCN4A, GH-LCRM1747VHypokalemic periodic paralysis, type 1, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Congenital myasthenic syndrome 16, Periodic hyperkalemic paralysis, Potassium-aggravated myotonia,
not provided, Periodic hyperkalemic paralysis		Uncertain significance
(Jul 24, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr17:62028987
GRCh38:
Chr17:63951627
GH-LCR, SCN4AE884KPeriodic hyperkalemic paralysis, Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1,
Periodic hyperkalemic paralysis, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
Paramyotonia congenita of Von Eulenburg		Uncertain significance
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr17:62049559
GRCh38:
Chr17:63972199
SCN4AT140Inot provided, Periodic hyperkalemic paralysis, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr17:62026035
GRCh38:
Chr17:63948675
GH-LCR, SCN4AI1027TParamyotonia congenita of Von Eulenburg, Periodic hyperkalemic paralysis, Hypokalemic periodic paralysis, type 1,
Congenital myasthenic syndrome 16, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Periodic hyperkalemic paralysis		Uncertain significance
(Apr 5, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr17:62038744
GRCh38:
Chr17:63961384
SCN4AA552TPeriodic hyperkalemic paralysis, Paramyotonia congenita of Von Eulenburg, Periodic hyperkalemic paralysis,
Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16, Potassium-aggravated myotonia,
Hypokalemic periodic paralysis, type 2		Uncertain significance
(Apr 27, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr17:62049739
GRCh38:
Chr17:63972379
SCN4AR122LInborn genetic diseases, Periodic hyperkalemic paralysis, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2		Uncertain significance
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr17:62018424
GRCh38:
Chr17:63941064
GH-LCR, SCN4AR1740WParamyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16,
Periodic hyperkalemic paralysis, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1,
Paramyotonia congenita of Von Eulenburg, Periodic hyperkalemic paralysis		Uncertain significance
(Oct 10, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr17:62049718
GRCh38:
Chr17:63972358
SCN4AI129TPeriodic hyperkalemic paralysis, not provided, Paramyotonia congenita of Von Eulenburg,
Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2,
Potassium-aggravated myotonia, Periodic hyperkalemic paralysis, Inborn genetic diseases
Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr17:62038700
GRCh38:
Chr17:63961340
SCN4AK566NPeriodic hyperkalemic paralysis, Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Periodic hyperkalemic paralysis		Uncertain significance
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr17:62018136
GRCh38:
Chr17:63940776
GH-LCR, SCN4AV1836IPeriodic hyperkalemic paralysis, Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Periodic hyperkalemic paralysis		Uncertain significance
(Aug 12, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr17:62041032
GRCh38:
Chr17:63963672
SCN4AE536KPeriodic hyperkalemic paralysis, Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Periodic hyperkalemic paralysis		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr17:62041902
GRCh38:
Chr17:63964542
SCN4AE460KParamyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Periodic hyperkalemic paralysis,
Periodic hyperkalemic paralysis, not provided		Uncertain significance
(May 6, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr17:62019040
GRCh38:
Chr17:63941680
GH-LCR, SCN4APeriodic hyperkalemic paralysis, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Periodic hyperkalemic paralysis,
Congenital myasthenic syndrome 16		Likely benign
(Aug 15, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr17:62019273
GRCh38:
Chr17:63941913
GH-LCR, SCN4AR1457CParamyotonia congenita of Von Eulenburg, Periodic hyperkalemic paralysisUncertain significance
(Feb 14, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr17:62022041
GRCh38:
Chr17:63944681
SCN4A, GH-LCRK1302QParamyotonia congenita of Von Eulenburg, not provided, Potassium-aggravated myotonia,
Periodic hyperkalemic paralysis		Uncertain significance
(Jan 17, 2023)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr17:62049737
GRCh38:
Chr17:63972377
SCN4AG123RPeriodic hyperkalemic paralysis, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Periodic hyperkalemic paralysis		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr17:62019134
GRCh38:
Chr17:63941774
GH-LCR, SCN4AN1503SPeriodic hyperkalemic paralysis, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
not provided, Periodic hyperkalemic paralysis		Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr17:62050047
GRCh38:
Chr17:63972687
SCN4AR52Qnot provided, Periodic hyperkalemic paralysis, Periodic hyperkalemic paralysis,
Potassium-aggravated myotonia, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2		Uncertain significance
(Jul 28, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr17:62045547
GRCh38:
Chr17:63968187
SCN4AN291SPeriodic hyperkalemic paralysis, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16, Potassium-aggravated myotonia,
Periodic hyperkalemic paralysis		Uncertain significance
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr17:62038687
GRCh38:
Chr17:63961327
SCN4AI571VPeriodic hyperkalemic paralysis, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16, Potassium-aggravated myotonia,
Periodic hyperkalemic paralysis		Uncertain significance
(Oct 12, 2021)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr17:62019240
GRCh38:
Chr17:63941880
GH-LCR, SCN4AI1468VPeriodic hyperkalemic paralysis, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16, Potassium-aggravated myotonia,
not provided, Periodic hyperkalemic paralysis		Uncertain significance
(Mar 3, 2022)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr17:62045680
GRCh38:
Chr17:63968320
SCN4AV247Lnot provided, Periodic hyperkalemic paralysis, Paramyotonia congenita of Von Eulenburg,
Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16,
Potassium-aggravated myotonia, Periodic hyperkalemic paralysis		Uncertain significance
(Nov 21, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr17:62020394
GRCh38:
Chr17:63943034
GH-LCR, SCN4AM1360IPeriodic hyperkalemic paralysis, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16, Potassium-aggravated myotonia,
Periodic hyperkalemic paralysis, not provided		Uncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr17:62019123
GRCh38:
Chr17:63941763
SCN4A, GH-LCRV1507IPeriodic hyperkalemic paralysis, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16, Potassium-aggravated myotonia,
not provided, Periodic hyperkalemic paralysis		Uncertain significance
(Sep 30, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr17:62029158
GRCh38:
Chr17:63951798
GH-LCR, SCN4AG827WPeriodic hyperkalemic paralysis, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16, Potassium-aggravated myotonia,
Periodic hyperkalemic paralysis		Uncertain significance
(Jul 1, 2021)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr17:62049125
GRCh38:
Chr17:63971765
SCN4AR190WPeriodic hyperkalemic paralysis, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16, Potassium-aggravated myotonia,
not provided, Periodic hyperkalemic paralysis		Uncertain significance
(May 20, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr17:62028947
GRCh38:
Chr17:63951587
GH-LCR, SCN4AM897THypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Periodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Uncertain significance
(Jun 5, 2022)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr17:62019236
GRCh38:
Chr17:63941876
GH-LCR, SCN4AR1469QHypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Periodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Uncertain significance
(Jan 2, 2022)		criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr17:62045556
GRCh38:
Chr17:63968196
SCN4AN288SHypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Periodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Uncertain significance
(Jul 18, 2022)		criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr17:62025428
GRCh38:
Chr17:63948068
GH-LCR, SCN4AHypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Periodic hyperkalemic paralysis, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Periodic hyperkalemic paralysis		Uncertain significance
(Dec 9, 2021)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr17:62019278
GRCh38:
Chr17:63941918
SCN4A, GH-LCRI1455Tnot provided, Paramyotonia congenita of Von Eulenburg, Potassium-aggravated myotonia,
Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg, Periodic hyperkalemic paralysis,
Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2,
Periodic hyperkalemic paralysis		Conflicting interpretations of pathogenicity
(Mar 1, 2023)		criteria provided, conflicting interpretations
99.
GRCh37:
Chr17:62020216
GRCh38:
Chr17:63942856
GH-LCR, SCN4AD1420NPotassium-aggravated myotonia, Periodic hyperkalemic paralysis, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
100.
GRCh37:
Chr17:62018067
GRCh38:
Chr17:63940707
GH-LCR, SCN4AParamyotonia congenita of Von Eulenburg, Potassium-aggravated myotonia, Periodic hyperkalemic paralysis,
Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
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