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Items: 1 to 100 of 411

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr17:62019144
GRCh38:
Chr17:63941784
GH-LCR, SCN4AG1500SCongenital myasthenic syndrome 16Uncertain significance
(Mar 7, 2022)		criteria provided, single submitter
2.
GRCh37:
Chr17:62049543
GRCh38:
Chr17:63972183
SCN4AC145*Congenital myasthenic syndrome 16Likely pathogenic
(Mar 7, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr2:109371664
GRCh38:
Chr2:108755208
RANBP2E805DPotassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16		Uncertain significance
(Feb 14, 2022)		criteria provided, single submitter
4.
GRCh37:
Chr17:62026839
GRCh38:
Chr17:63949479
GH-LCR, SCN4AA968DPotassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16		Uncertain significance
(Feb 14, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr17:62038542
GRCh38:
Chr17:63961182
SCN4APotassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Hyperkalemic periodic paralysis		Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr17:62038541
GRCh38:
Chr17:63961181
SCN4APotassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Hyperkalemic periodic paralysis		Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr17:62043619
GRCh38:
Chr17:63966259
SCN4APotassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Hyperkalemic periodic paralysis		Likely benign
(Oct 13, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr17:62018359
GRCh38:
Chr17:63940999
GH-LCR, SCN4AHyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hyperkalemic periodic paralysis,
Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg		Likely benign
(Jul 11, 2022)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr17:62025230
GRCh38:
Chr17:63947870
GH-LCR, SCN4AHyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hyperkalemic periodic paralysis,
Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg		Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr17:62025235
GRCh38:
Chr17:63947875
GH-LCR, SCN4ACongenital myasthenic syndrome 16, Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Hyperkalemic periodic paralysis		Likely benign
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr17:62019016
GRCh38:
Chr17:63941656
GH-LCR, SCN4AHyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hyperkalemic periodic paralysis,
Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg		Likely benign
(Nov 17, 2021)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr17:62038811
GRCh38:
Chr17:63961451
SCN4AHyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hyperkalemic periodic paralysis,
Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg		Likely benign
(Jul 11, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr17:62038808
GRCh38:
Chr17:63961448
SCN4ACongenital myasthenic syndrome 16, Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Hyperkalemic periodic paralysis		Benign/Likely benign
(Sep 21, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr17:62038643
GRCh38:
Chr17:63961283
SCN4ACongenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Likely benign
(Apr 12, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr17:62028952
GRCh38:
Chr17:63951592
GH-LCR, SCN4ACongenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Likely benign
(Jun 19, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr17:62022156
GRCh38:
Chr17:63944796
GH-LCR, SCN4ACongenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Likely benign
(Jun 20, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr17:62026129
GRCh38:
Chr17:63948769
GH-LCR, SCN4ACongenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Likely benign
(Jun 26, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr17:62038535
GRCh38:
Chr17:63961175
SCN4AHypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis,
Potassium-aggravated myotonia, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Hyperkalemic periodic paralysis		Likely benign
(Oct 8, 2022)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr17:62026907
GRCh38:
Chr17:63949547
GH-LCR, SCN4AHypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis,
Potassium-aggravated myotonia, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Hyperkalemic periodic paralysis		Likely benign
(Mar 27, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr17:62049157
GRCh38:
Chr17:63971797
SCN4AR179QHypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis,
Potassium-aggravated myotonia, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Hyperkalemic periodic paralysis		Uncertain significance
(Apr 21, 2022)		criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr17:62018147
GRCh38:
Chr17:63940787
GH-LCR, SCN4AK1832RHypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis,
Potassium-aggravated myotonia, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Hyperkalemic periodic paralysis		Uncertain significance
(Jan 2, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr17:62045653
GRCh38:
Chr17:63968293
SCN4AL256FHypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis,
Potassium-aggravated myotonia, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Hyperkalemic periodic paralysis		Uncertain significance
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr17:62043497
GRCh38:
Chr17:63966137
SCN4AM403VHypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis,
Potassium-aggravated myotonia, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Hyperkalemic periodic paralysis		Uncertain significance
(May 17, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr17:62024475
GRCh38:
Chr17:63947115
GH-LCR, SCN4AP1124HHypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis,
Potassium-aggravated myotonia, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Hyperkalemic periodic paralysis		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr17:62050138
GRCh38:
Chr17:63972778
SCN4AR22WHypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr17:62019249
GRCh38:
Chr17:63941889
GH-LCR, SCN4AA1465SHyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hyperkalemic periodic paralysis		Uncertain significance
(Jul 9, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr17:62018232
GRCh38:
Chr17:63940872
GH-LCR, SCN4AT1804AHyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hyperkalemic periodic paralysis, not provided		Uncertain significance
(Aug 18, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr17:62029137
GRCh38:
Chr17:63951777
GH-LCR, SCN4AG834SHypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis, not provided		Uncertain significance
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr17:62049520
GRCh38:
Chr17:63972160
SCN4AP153LHypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr17:62048546
GRCh38:
Chr17:63971186
SCN4AL227FHyperkalemic periodic paralysis, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis,
Hypokalemic periodic paralysis, type 1, not provided		Uncertain significance
(Oct 3, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr17:62043877
GRCh38:
Chr17:63966517
SCN4AN355SHyperkalemic periodic paralysis, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis,
Hypokalemic periodic paralysis, type 1, not provided		Uncertain significance
(Jun 22, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr17:62018367
GRCh38:
Chr17:63941007
GH-LCR, SCN4AD1759Nnot provided, Hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg,
Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis, Potassium-aggravated myotonia,
Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1		Uncertain significance
(Sep 29, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr17:62041998
GRCh38:
Chr17:63964638
SCN4AV428LHyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hyperkalemic periodic paralysis, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1		Uncertain significance
(Dec 18, 2021)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr17:62041029
GRCh38:
Chr17:63963669
SCN4AHyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hyperkalemic periodic paralysis, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1		Uncertain significance
(Sep 19, 2022)		criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr17:62036770
GRCh38:
Chr17:63959410
SCN4AM625THyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hyperkalemic periodic paralysis, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1		Uncertain significance
(Jun 20, 2022)		criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr17:62026078
GRCh38:
Chr17:63948718
GH-LCR, SCN4AR1013Cnot provided, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hyperkalemic periodic paralysis, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1, Hyperkalemic periodic paralysis		Uncertain significance
(May 4, 2022)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr17:62018227
GRCh38:
Chr17:63940867
GH-LCR, SCN4AM1805IHyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hyperkalemic periodic paralysis, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1		Uncertain significance
(Jul 5, 2022)		criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr17:62049119
GRCh38:
Chr17:63971759
SCN4AP192SHyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hyperkalemic periodic paralysis, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1		Uncertain significance
(Aug 10, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr17:62026879
GRCh38:
Chr17:63949519
GH-LCR, SCN4AQ955KHyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hyperkalemic periodic paralysis, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr17:62050021
GRCh38:
Chr17:63972661
SCN4AG61SPotassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Uncertain significance
(Jun 10, 2022)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr17:62018405
GRCh38:
Chr17:63941045
GH-LCR, SCN4AS1746FPotassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Uncertain significance
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr17:62050012
GRCh38:
Chr17:63972652
SCN4AL64VPotassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Uncertain significance
(Jan 17, 2022)		criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr17:62028926
GRCh38:
Chr17:63951566
GH-LCR, SCN4AP904QPotassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Uncertain significance
(Mar 11, 2022)		criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr17:62038585
GRCh38:
Chr17:63961225
SCN4AH605YPotassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Uncertain significance
(Aug 15, 2022)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr17:62018177
GRCh38:
Chr17:63940817
GH-LCR, SCN4AP1822HPotassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Uncertain significance
(Jan 12, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr17:62036645
GRCh38:
Chr17:63959285
SCN4AV667MPotassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Uncertain significance
(Oct 5, 2021)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr17:62020207
GRCh38:
Chr17:63942847
GH-LCR, SCN4AV1423IPotassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Uncertain significance
(Nov 9, 2021)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr17:62026125
GRCh38:
Chr17:63948765
GH-LCR, SCN4AA997VPotassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Uncertain significance
(Sep 3, 2022)		criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr17:62018994
GRCh38:
Chr17:63941634
GH-LCR, SCN4AP1550SPotassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis,
not provided, Hyperkalemic periodic paralysis		Uncertain significance
(Jul 25, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr17:62048552
GRCh38:
Chr17:63971192
SCN4AR225WCongenital myasthenic syndrome 16, Hyperkalemic periodic paralysisUncertain significance
(Dec 8, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr17:62041095
GRCh38:
Chr17:63963735
SCN4AG515RHyperkalemic periodic paralysis, not provided, Hyperkalemic periodic paralysis,
Hypokalemic periodic paralysis, type 1, Paramyotonia congenita of Von Eulenburg, Potassium-aggravated myotonia,
Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16		Uncertain significance
(Jul 14, 2022)		criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr17:62050111
GRCh38:
Chr17:63972751
SCN4AR31Wnot provided, Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 1,
Paramyotonia congenita of Von Eulenburg, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Congenital myasthenic syndrome 16		Uncertain significance
(May 11, 2022)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr17:62050147
GRCh38:
Chr17:63972787
SCN4AP19Snot provided, Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 1,
Paramyotonia congenita of Von Eulenburg, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Congenital myasthenic syndrome 16		Uncertain significance
(Jan 11, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr17:62028997-62028999
GRCh38:
Chr17:63951637-63951639
GH-LCR, SCN4AK880delHyperkalemic periodic paralysis, Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 1,
Paramyotonia congenita of Von Eulenburg, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Congenital myasthenic syndrome 16, not provided		Uncertain significance
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr17:62024461
GRCh38:
Chr17:63947101
GH-LCR, SCN4AR1129Wnot provided, Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis		Uncertain significance
(Sep 7, 2021)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr17:62018194
GRCh38:
Chr17:63940834
GH-LCR, SCN4AHyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hyperkalemic periodic paralysis		Likely benign
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr17:62026784
GRCh38:
Chr17:63949424
GH-LCR, SCN4AHyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Hyperkalemic periodic paralysis		Likely benign
(Oct 8, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr17:62045723
GRCh38:
Chr17:63968363
SCN4AHyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Hyperkalemic periodic paralysis		Likely benign
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr17:62049217
GRCh38:
Chr17:63971857
SCN4AHyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Hyperkalemic periodic paralysis		Likely benign
(Jul 18, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr17:62018755
GRCh38:
Chr17:63941395
SCN4A, GH-LCRPotassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg,
Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Hyperkalemic periodic paralysis		Likely benign
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr17:62028777
GRCh38:
Chr17:63951417
GH-LCR, SCN4APotassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg,
Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Hyperkalemic periodic paralysis		Likely benign
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr17:62019319
GRCh38:
Chr17:63941959
SCN4A, GH-LCRPotassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg,
Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Hyperkalemic periodic paralysis		Likely benign
(Aug 29, 2022)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr17:62029186
GRCh38:
Chr17:63951826
GH-LCR, SCN4AHyperkalemic periodic paralysis, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 1,
Congenital myasthenic syndrome 16		Likely benign
(Jun 4, 2022)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr17:62041078
GRCh38:
Chr17:63963718
SCN4APotassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1, Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Likely benign
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr17:62018403
GRCh38:
Chr17:63941043
GH-LCR, SCN4AM1747VPotassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Hyperkalemic periodic paralysis,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16,
Hyperkalemic periodic paralysis, not provided		Uncertain significance
(Jul 24, 2022)		criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr17:62048540
GRCh38:
Chr17:63971180
SCN4AT229fsCongenital myasthenic syndrome 16Pathogenic
(Aug 14, 2018)		criteria provided, single submitter
67.
GRCh37:
Chr17:62028987
GRCh38:
Chr17:63951627
GH-LCR, SCN4AE884KHypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Hyperkalemic periodic paralysis,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16,
Hyperkalemic periodic paralysis		Uncertain significance
(Oct 27, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr17:62049559
GRCh38:
Chr17:63972199
SCN4AT140Inot provided, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Congenital myasthenic syndrome 16, Hyperkalemic periodic paralysis		Uncertain significance
(Aug 22, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr17:62026035
GRCh38:
Chr17:63948675
SCN4A, GH-LCRI1027THypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Hyperkalemic periodic paralysis,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16,
Hyperkalemic periodic paralysis		Uncertain significance
(Apr 5, 2022)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr17:62038744
GRCh38:
Chr17:63961384
SCN4AA552THypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Hyperkalemic periodic paralysis,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16,
Hyperkalemic periodic paralysis		Uncertain significance
(Apr 27, 2022)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr17:62049739
GRCh38:
Chr17:63972379
SCN4AR122LHyperkalemic periodic paralysis, Inborn genetic diseases, Paramyotonia congenita of Von Eulenburg,
Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Hyperkalemic periodic paralysis,
Potassium-aggravated myotonia, Congenital myasthenic syndrome 16		Uncertain significance
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr17:62018424
GRCh38:
Chr17:63941064
SCN4A, GH-LCRR1740WParamyotonia congenita of Von Eulenburg, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Hyperkalemic periodic paralysis, Potassium-aggravated myotonia,
Congenital myasthenic syndrome 16, Hyperkalemic periodic paralysis		Uncertain significance
(Oct 10, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr17:62049718
GRCh38:
Chr17:63972358
SCN4AI129TInborn genetic diseases, Hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg,
Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Hyperkalemic periodic paralysis,
Potassium-aggravated myotonia, Congenital myasthenic syndrome 16, not provided
Uncertain significance
(Oct 17, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr17:62038700
GRCh38:
Chr17:63961340
SCN4AK566NHyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Hyperkalemic periodic paralysis, Potassium-aggravated myotonia,
Congenital myasthenic syndrome 16		Uncertain significance
(Jul 12, 2022)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr17:62018136
GRCh38:
Chr17:63940776
GH-LCR, SCN4AV1836IHyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Hyperkalemic periodic paralysis, Potassium-aggravated myotonia,
Congenital myasthenic syndrome 16		Uncertain significance
(Aug 12, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr17:62041032
GRCh38:
Chr17:63963672
SCN4AE536KHyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Hyperkalemic periodic paralysis, Potassium-aggravated myotonia,
Congenital myasthenic syndrome 16		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr17:62041902
GRCh38:
Chr17:63964542
SCN4AE460Knot provided, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Hyperkalemic periodic paralysis, Potassium-aggravated myotonia,
Congenital myasthenic syndrome 16, Hyperkalemic periodic paralysis		Uncertain significance
(May 6, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr17:62019040
GRCh38:
Chr17:63941680
GH-LCR, SCN4AHypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Likely benign
(Aug 15, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr17:62049737
GRCh38:
Chr17:63972377
SCN4AG123RParamyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1,
Hyperkalemic periodic paralysis, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
Hyperkalemic periodic paralysis		Uncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr17:62019134
GRCh38:
Chr17:63941774
SCN4A, GH-LCRN1503SParamyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1,
Hyperkalemic periodic paralysis, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
not provided, Hyperkalemic periodic paralysis		Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr17:62050047
GRCh38:
Chr17:63972687
SCN4AR52QParamyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1,
Hyperkalemic periodic paralysis, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
Hyperkalemic periodic paralysis, not provided		Uncertain significance
(Jul 28, 2022)		criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr17:62045547
GRCh38:
Chr17:63968187
SCN4AN291SHyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Hyperkalemic periodic paralysis, Potassium-aggravated myotonia,
Congenital myasthenic syndrome 16		Uncertain significance
(Jun 27, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr17:62038687
GRCh38:
Chr17:63961327
SCN4AI571VParamyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1,
Hyperkalemic periodic paralysis, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
Hyperkalemic periodic paralysis		Uncertain significance
(Oct 12, 2021)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr17:62019240
GRCh38:
Chr17:63941880
GH-LCR, SCN4AI1468VHypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Hyperkalemic periodic paralysis,
not provided, Hyperkalemic periodic paralysis		Uncertain significance
(Mar 3, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr17:62045680
GRCh38:
Chr17:63968320
SCN4AV247LHypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Hyperkalemic periodic paralysis,
not provided, Hyperkalemic periodic paralysis		Uncertain significance
(Nov 21, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr17:62020394
GRCh38:
Chr17:63943034
GH-LCR, SCN4AM1360IHypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Hyperkalemic periodic paralysis,
not provided, Hyperkalemic periodic paralysis		Uncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr17:62019123
GRCh38:
Chr17:63941763
GH-LCR, SCN4AV1507IHypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Hyperkalemic periodic paralysis,
not provided, Hyperkalemic periodic paralysis		Uncertain significance
(Sep 30, 2022)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr17:62029158
GRCh38:
Chr17:63951798
GH-LCR, SCN4AG827WHypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Uncertain significance
(Jul 1, 2021)		criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr17:62049125
GRCh38:
Chr17:63971765
SCN4AR190WHypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Hyperkalemic periodic paralysis,
not provided, Hyperkalemic periodic paralysis		Uncertain significance
(May 20, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr17:62028947
GRCh38:
Chr17:63951587
GH-LCR, SCN4AM897THypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Uncertain significance
(Jun 5, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr17:62019236
GRCh38:
Chr17:63941876
GH-LCR, SCN4AR1469QHypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Uncertain significance
(Jan 2, 2022)		criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr17:62045556
GRCh38:
Chr17:63968196
SCN4AN288SHypokalemic periodic paralysis, type 1, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Hyperkalemic periodic paralysis,
Hyperkalemic periodic paralysis		Uncertain significance
(Jul 18, 2022)		criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr17:62025428
GRCh38:
Chr17:63948068
GH-LCR, SCN4AHyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 1, Hyperkalemic periodic paralysis,
Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Congenital myasthenic syndrome 16		Uncertain significance
(Dec 9, 2021)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr17:62019278
GRCh38:
Chr17:63941918
GH-LCR, SCN4AI1455THypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Hypokalemic periodic paralysis, type 2, Congenital myasthenic syndrome 16, Hyperkalemic periodic paralysis,
not provided, Hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg
Pathogenic/Likely pathogenic
(Mar 1, 2023)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr17:62020216
GRCh38:
Chr17:63942856
GH-LCR, SCN4AD1420NPotassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg,
Hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
96.
GRCh37:
Chr17:62018067
GRCh38:
Chr17:63940707
GH-LCR, SCN4AHypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
97.
GRCh37:
Chr17:62041078
GRCh38:
Chr17:63963718
SCN4ACongenital myasthenic syndrome 16, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 2		Conflicting interpretations of pathogenicity
(Dec 7, 2021)		criteria provided, conflicting interpretations
98.
GRCh37:
Chr17:62016913
GRCh38:
Chr17:63939553
GH-LCR, SCN4ACongenital myasthenic syndrome 16, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 2		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
99.
GRCh37:
Chr17:62026053
GRCh38:
Chr17:63948693
GH-LCR, SCN4AR1021HHypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16		Conflicting interpretations of pathogenicity
(Sep 10, 2022)		criteria provided, conflicting interpretations
100.
GRCh37:
Chr17:62049717
GRCh38:
Chr17:63972357
SCN4AI129MHypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
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