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Items: 1 to 100 of 410

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
RANBP2E805DHypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Congenital myasthenic syndrome 16, Familial hyperkalemic periodic paralysis
Uncertain significance
(Feb 14, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr17:62026839
GRCh38:
Chr17:63949479
GH-LCR, SCN4AA968DHypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Congenital myasthenic syndrome 16, Familial hyperkalemic periodic paralysis
Uncertain significance
(Feb 14, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr17:62038542
GRCh38:
Chr17:63961182
SCN4AFamilial hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Familial hyperkalemic periodic paralysis
Likely benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr17:62038541
GRCh38:
Chr17:63961181
SCN4AFamilial hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Familial hyperkalemic periodic paralysis
Likely benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr17:62043619
GRCh38:
Chr17:63966259
SCN4AFamilial hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Familial hyperkalemic periodic paralysis
Likely benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr17:62018359
GRCh38:
Chr17:63940999
GH-LCR, SCN4AFamilial hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Familial hyperkalemic periodic paralysis
Likely benign
(Jul 11, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr17:62025230
GRCh38:
Chr17:63947870
SCN4A, GH-LCRFamilial hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Familial hyperkalemic periodic paralysis
Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr17:62025235
GRCh38:
Chr17:63947875
GH-LCR, SCN4AFamilial hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Familial hyperkalemic periodic paralysis
Likely benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr17:62019016
GRCh38:
Chr17:63941656
GH-LCR, SCN4ACongenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg, Familial hyperkalemic periodic paralysis,
Familial hyperkalemic periodic paralysis
Likely benign
(Nov 17, 2021)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr17:62038811
GRCh38:
Chr17:63961451
SCN4AFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Likely benign
(Jul 11, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr17:62038808
GRCh38:
Chr17:63961448
SCN4AFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg,
Familial 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 1, Potassium-aggravated myotonia,
Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg, Familial hyperkalemic periodic paralysis,
Familial hyperkalemic periodic paralysis
Likely benign
(Apr 12, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr17:62028952
GRCh38:
Chr17:63951592
SCN4A, GH-LCRFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Likely benign
(Jun 19, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr17:62022156
GRCh38:
Chr17:63944796
GH-LCR, SCN4AFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Likely benign
(Jun 20, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr17:62026129
GRCh38:
Chr17:63948769
GH-LCR, SCN4AFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Likely benign
(Jun 26, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr17:62038535
GRCh38:
Chr17:63961175
SCN4AFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Likely benign
(Oct 8, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr17:62026907
GRCh38:
Chr17:63949547
GH-LCR, SCN4ACongenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg, Familial hyperkalemic periodic paralysis,
Familial hyperkalemic periodic paralysis
Likely benign
(Mar 27, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr17:62049157
GRCh38:
Chr17:63971797
SCN4AR179QFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Apr 21, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr17:62018147
GRCh38:
Chr17:63940787
SCN4A, GH-LCRK1832RFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Jan 2, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr17:62045653
GRCh38:
Chr17:63968293
SCN4AL256FFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr17:62043497
GRCh38:
Chr17:63966137
SCN4AM403VFamilial hyperkalemic periodic paralysis, Familial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg
Uncertain significance
(May 17, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr17:62024475
GRCh38:
Chr17:63947115
GH-LCR, SCN4AP1124Hnot provided, Familial hyperkalemic periodic paralysis, Familial hyperkalemic periodic paralysis,
Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2,
Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg
Uncertain significance
(May 1, 2023)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr17:62050138
GRCh38:
Chr17:63972778
SCN4AR22WFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr17:62019249
GRCh38:
Chr17:63941889
GH-LCR, SCN4AA1465SFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Jul 9, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr17:62018232
GRCh38:
Chr17:63940872
GH-LCR, SCN4AT1804AFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
not provided, Familial hyperkalemic periodic paralysis
Uncertain significance
(Aug 18, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr17:62029137
GRCh38:
Chr17:63951777
GH-LCR, SCN4AG834SInborn genetic diseases, Familial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg, not provided, Familial hyperkalemic periodic paralysis
Conflicting interpretations of pathogenicity
(Apr 11, 2023)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr17:62049520
GRCh38:
Chr17:63972160
SCN4AP153LFamilial hyperkalemic periodic paralysis, Familial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg
Uncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr17:62048546
GRCh38:
Chr17:63971186
SCN4AL227Fnot provided, Familial hyperkalemic periodic paralysis, Familial hyperkalemic periodic paralysis,
Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2,
Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg
Uncertain significance
(Oct 3, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr17:62043877
GRCh38:
Chr17:63966517
SCN4AN355Snot provided, Familial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg, Familial hyperkalemic periodic paralysis
Uncertain significance
(Jun 22, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr17:62018367
GRCh38:
Chr17:63941007
GH-LCR, SCN4AD1759NFamilial hyperkalemic periodic paralysis, Familial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg, not provided
Uncertain significance
(Sep 29, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr17:62041998
GRCh38:
Chr17:63964638
SCN4AV428LFamilial hyperkalemic periodic paralysis, Familial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg
Uncertain significance
(Dec 18, 2021)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr17:62041029
GRCh38:
Chr17:63963669
SCN4AFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Sep 19, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr17:62036770
GRCh38:
Chr17:63959410
SCN4AM625TFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Jun 20, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr17:62026078
GRCh38:
Chr17:63948718
GH-LCR, SCN4AR1013CInborn genetic diseases, Familial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg, not provided, Familial hyperkalemic periodic paralysis
Uncertain significance
(May 9, 2023)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr17:62018227
GRCh38:
Chr17:63940867
SCN4A, GH-LCRM1805IFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
not provided, Familial hyperkalemic periodic paralysis
Uncertain significance
(Dec 8, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr17:62049119
GRCh38:
Chr17:63971759
SCN4AP192SFamilial hyperkalemic periodic paralysis, Familial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg
Uncertain significance
(Aug 10, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr17:62026879
GRCh38:
Chr17:63949519
GH-LCR, SCN4AQ955KFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr17:62050021
GRCh38:
Chr17:63972661
SCN4AG61SFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Jun 10, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr17:62018405
GRCh38:
Chr17:63941045
GH-LCR, SCN4AS1746FFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr17:62050012
GRCh38:
Chr17:63972652
SCN4AL64VFamilial hyperkalemic periodic paralysis, Inborn genetic diseases, Familial hyperkalemic periodic paralysis,
Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg
Uncertain significance
(Jun 5, 2023)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr17:62028926
GRCh38:
Chr17:63951566
GH-LCR, SCN4AP904QFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Mar 11, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr17:62038585
GRCh38:
Chr17:63961225
SCN4AH605YFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Aug 15, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr17:62018177
GRCh38:
Chr17:63940817
GH-LCR, SCN4AP1822HFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Jan 12, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr17:62036645
GRCh38:
Chr17:63959285
SCN4AV667MFamilial hyperkalemic periodic paralysis, Familial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg
Uncertain significance
(Oct 5, 2021)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr17:62020207
GRCh38:
Chr17:63942847
GH-LCR, SCN4AV1423IFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Nov 9, 2021)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr17:62026125
GRCh38:
Chr17:63948765
GH-LCR, SCN4AA997VFamilial hyperkalemic periodic paralysis, Familial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg
Uncertain significance
(Sep 3, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr17:62018994
GRCh38:
Chr17:63941634
GH-LCR, SCN4AP1550Snot provided, Familial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg, Familial 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, Familial hyperkalemic periodic paralysisUncertain significance
(Dec 8, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr17:62041095
GRCh38:
Chr17:63963735
SCN4AG515Rnot provided, Familial hyperkalemic periodic paralysis, Familial hyperkalemic periodic paralysis,
Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 1, Potassium-aggravated myotonia,
Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2
Uncertain significance
(Jul 14, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr17:62050111
GRCh38:
Chr17:63972751
SCN4AR31Wnot provided, Familial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg
Uncertain significance
(May 11, 2022)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr17:62050147
GRCh38:
Chr17:63972787
SCN4AP19Snot provided, Familial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg
Uncertain significance
(Jan 11, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr17:62028997-62028999
GRCh38:
Chr17:63951637-63951639
GH-LCR, SCN4AK880delnot provided, Familial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg, Familial hyperkalemic periodic paralysis
Uncertain significance
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr17:62024461
GRCh38:
Chr17:63947101
GH-LCR, SCN4AR1129WFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2,
Familial hyperkalemic periodic paralysis, not provided
Uncertain significance
(Sep 7, 2021)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr17:62018194
GRCh38:
Chr17:63940834
GH-LCR, SCN4AFamilial hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Familial hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg,
Congenital myasthenic syndrome 16
Likely benign
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr17:62026784
GRCh38:
Chr17:63949424
GH-LCR, SCN4AFamilial hyperkalemic periodic paralysis, Familial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg
Likely benign
(Oct 8, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr17:62045723
GRCh38:
Chr17:63968363
SCN4AFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr17:62049217
GRCh38:
Chr17:63971857
SCN4AFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Likely benign
(Jul 18, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr17:62018755
GRCh38:
Chr17:63941395
GH-LCR, SCN4AFamilial hyperkalemic periodic paralysis, Familial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 1, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Paramyotonia congenita of Von Eulenburg
Likely benign
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr17:62028777
GRCh38:
Chr17:63951417
GH-LCR, SCN4AFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Likely benign
(Aug 31, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr17:62019319
GRCh38:
Chr17:63941959
GH-LCR, SCN4AFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Likely benign
(Aug 29, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr17:62029186
GRCh38:
Chr17:63951826
SCN4A, GH-LCRFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 1,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Likely benign
(Jun 4, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr17:62041078
GRCh38:
Chr17:63963718
SCN4AFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Familial hyperkalemic periodic paralysis,
Paramyotonia congenita of Von Eulenburg, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1
Likely benign
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr17:62018403
GRCh38:
Chr17:63941043
GH-LCR, SCN4AM1747VFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Familial hyperkalemic periodic paralysis,
Paramyotonia congenita of Von Eulenburg, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2,
Hypokalemic periodic paralysis, type 1, 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 2, Hypokalemic periodic paralysis, type 1, Familial hyperkalemic periodic paralysis,
Potassium-aggravated myotonia, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr17:62049559
GRCh38:
Chr17:63972199
SCN4AT140IHypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Familial hyperkalemic periodic paralysis,
Potassium-aggravated myotonia, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
not provided, Familial hyperkalemic periodic paralysis
Uncertain significance
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr17:62026035
GRCh38:
Chr17:63948675
GH-LCR, SCN4AI1027THypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1, Familial hyperkalemic periodic paralysis,
Potassium-aggravated myotonia, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Familial 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 2, Hypokalemic periodic paralysis, type 1, Familial hyperkalemic periodic paralysis,
Potassium-aggravated myotonia, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Apr 27, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr17:62049739
GRCh38:
Chr17:63972379
SCN4AR122LInborn genetic diseases, Hypokalemic periodic paralysis, type 1, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 2, Familial hyperkalemic periodic paralysis
Uncertain significance
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr17:62018424
GRCh38:
Chr17:63941064
GH-LCR, SCN4AR1740WHypokalemic periodic paralysis, type 1, Paramyotonia congenita of Von Eulenburg, Familial hyperkalemic periodic paralysis,
Potassium-aggravated myotonia, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Familial hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg
Uncertain significance
(Oct 10, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr17:62049718
GRCh38:
Chr17:63972358
SCN4AI129TInborn genetic diseases, not provided, Hypokalemic periodic paralysis, type 1,
Paramyotonia congenita of Von Eulenburg, Familial hyperkalemic periodic paralysis, Potassium-aggravated myotonia,
Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2, Familial hyperkalemic periodic paralysis
Uncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr17:62038700
GRCh38:
Chr17:63961340
SCN4AK566NHypokalemic periodic paralysis, type 1, Paramyotonia congenita of Von Eulenburg, Familial hyperkalemic periodic paralysis,
Potassium-aggravated myotonia, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Jul 12, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr17:62018136
GRCh38:
Chr17:63940776
GH-LCR, SCN4AV1836IHypokalemic periodic paralysis, type 1, Paramyotonia congenita of Von Eulenburg, Familial hyperkalemic periodic paralysis,
Potassium-aggravated myotonia, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Aug 12, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr17:62041032
GRCh38:
Chr17:63963672
SCN4AE536KHypokalemic periodic paralysis, type 1, Paramyotonia congenita of Von Eulenburg, Familial hyperkalemic periodic paralysis,
Potassium-aggravated myotonia, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr17:62041902
GRCh38:
Chr17:63964542
SCN4AE460Knot provided, Hypokalemic periodic paralysis, type 1, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis, Potassium-aggravated myotonia, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 2, Familial 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, Hypokalemic periodic paralysis, type 2, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Potassium-aggravated myotonia,
Familial hyperkalemic periodic paralysis
Likely benign
(Aug 15, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr17:62049737
GRCh38:
Chr17:63972377
SCN4AG123RFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Familial hyperkalemic periodic paralysis,
Paramyotonia congenita of Von Eulenburg
Uncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr17:62019134
GRCh38:
Chr17:63941774
GH-LCR, SCN4AN1503SFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Familial hyperkalemic periodic paralysis,
Paramyotonia congenita of Von Eulenburg, not provided
Uncertain significance
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr17:62050047
GRCh38:
Chr17:63972687
SCN4AR52QFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Familial hyperkalemic periodic paralysis,
Paramyotonia congenita of Von Eulenburg, not provided
Uncertain significance
(Jul 28, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr17:62045547
GRCh38:
Chr17:63968187
SCN4AN291SFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Familial hyperkalemic periodic paralysis,
Paramyotonia congenita of Von Eulenburg
Uncertain significance
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr17:62038687
GRCh38:
Chr17:63961327
SCN4AI571VFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Familial hyperkalemic periodic paralysis,
Paramyotonia congenita of Von Eulenburg
Uncertain significance
(Oct 12, 2021)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr17:62019240
GRCh38:
Chr17:63941880
GH-LCR, SCN4AI1468VFamilial hyperkalemic periodic paralysis, not provided, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1,
Familial hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg
Uncertain significance
(Mar 3, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr17:62045680
GRCh38:
Chr17:63968320
SCN4AV247LCongenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Hypokalemic periodic paralysis, type 1, Familial hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg,
not provided, Familial hyperkalemic periodic paralysis
Uncertain significance
(Nov 21, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr17:62020394
GRCh38:
Chr17:63943034
GH-LCR, SCN4AM1360ICongenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Hypokalemic periodic paralysis, type 1, Familial hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg,
not provided, Familial hyperkalemic periodic paralysis
Uncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr17:62019123
GRCh38:
Chr17:63941763
GH-LCR, SCN4AV1507ICongenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Hypokalemic periodic paralysis, type 1, Familial hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg,
not provided, Familial hyperkalemic periodic paralysis
Uncertain significance
(Sep 30, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr17:62029158
GRCh38:
Chr17:63951798
GH-LCR, SCN4AG827WCongenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Hypokalemic periodic paralysis, type 1, Familial hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Jul 1, 2021)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr17:62049125
GRCh38:
Chr17:63971765
SCN4AR190Wnot provided, Familial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16,
Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1,
Familial hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg
Uncertain significance
(May 20, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr17:62028947
GRCh38:
Chr17:63951587
GH-LCR, SCN4AM897TCongenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2, Potassium-aggravated myotonia,
Hypokalemic periodic paralysis, type 1, Familial hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg,
Familial hyperkalemic periodic paralysis
Uncertain significance
(Jun 5, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr17:62019236
GRCh38:
Chr17:63941876
GH-LCR, SCN4AR1469QFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Familial hyperkalemic periodic paralysis,
Paramyotonia congenita of Von Eulenburg
Uncertain significance
(Jan 2, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr17:62045556
GRCh38:
Chr17:63968196
SCN4AN288SFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Familial hyperkalemic periodic paralysis,
Paramyotonia congenita of Von Eulenburg
Uncertain significance
(Jul 18, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr17:62025428
GRCh38:
Chr17:63948068
GH-LCR, SCN4AFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 1, Familial hyperkalemic periodic paralysis,
Paramyotonia congenita of Von Eulenburg
Uncertain significance
(Dec 9, 2021)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr17:62019278
GRCh38:
Chr17:63941918
SCN4A, GH-LCRI1455THypokalemic periodic paralysis, type 2, Familial hyperkalemic periodic paralysis, Familial hyperkalemic periodic paralysis,
Congenital myasthenic syndrome 16, Hypokalemic periodic paralysis, type 2, Hypokalemic periodic paralysis, type 1,
Potassium-aggravated myotonia, Paramyotonia congenita of Von Eulenburg, not provided,
Paramyotonia congenita of Von Eulenburg
Conflicting interpretations of pathogenicity
(Mar 1, 2023)
criteria provided, conflicting interpretations
95.
GRCh37:
Chr17:62020216
GRCh38:
Chr17:63942856
GH-LCR, SCN4AD1420NFamilial hyperkalemic periodic paralysis, Congenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr17:62018067
GRCh38:
Chr17:63940707
GH-LCR, SCN4AParamyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16, Potassium-aggravated myotonia,
Familial hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 2
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr17:62041078
GRCh38:
Chr17:63963718
SCN4AFamilial hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16,
Potassium-aggravated myotonia, 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, SCN4AFamilial hyperkalemic periodic paralysis, Paramyotonia congenita of Von Eulenburg, Congenital myasthenic syndrome 16,
Potassium-aggravated myotonia, Hypokalemic periodic paralysis, type 2
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr17:62026053
GRCh38:
Chr17:63948693
GH-LCR, SCN4AR1021HCongenital myasthenic syndrome 16, Paramyotonia congenita of Von Eulenburg, Potassium-aggravated myotonia,
Familial hyperkalemic periodic paralysis, Hypokalemic periodic paralysis, type 2
Conflicting interpretations of pathogenicity
(Sep 10, 2022)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr17:62049717
GRCh38:
Chr17:63972357
SCN4AI129MParamyotonia congenita of Von Eulenburg, Hypokalemic periodic paralysis, type 2, Familial hyperkalemic periodic paralysis,
Potassium-aggravated myotonia, Congenital myasthenic syndrome 16
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
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