| - GRCh37:
- Chr17:62019144
- GRCh38:
- Chr17:63941784
| GH-LCR, SCN4A | G1500S | Congenital myasthenic syndrome 16 | Uncertain significance
(Mar 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62049543
- GRCh38:
- Chr17:63972183
| SCN4A | C145* | Congenital myasthenic syndrome 16 | Likely pathogenic
(Mar 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:109371664
- GRCh38:
- Chr2:108755208
| RANBP2 | E805D | Hypokalemic 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 |
| - GRCh37:
- Chr17:62026839
- GRCh38:
- Chr17:63949479
| GH-LCR, SCN4A | A968D | Hypokalemic 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 |
| - GRCh37:
- Chr17:62038542
- GRCh38:
- Chr17:63961182
| SCN4A | | Familial 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 |
| - GRCh37:
- Chr17:62038541
- GRCh38:
- Chr17:63961181
| SCN4A | | Familial 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 |
| - GRCh37:
- Chr17:62043619
- GRCh38:
- Chr17:63966259
| SCN4A | | Familial 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 |
| - GRCh37:
- Chr17:62018359
- GRCh38:
- Chr17:63940999
| GH-LCR, SCN4A | | Familial 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 |
| - GRCh37:
- Chr17:62025230
- GRCh38:
- Chr17:63947870
| SCN4A, GH-LCR | | Familial 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 |
| - GRCh37:
- Chr17:62025235
- GRCh38:
- Chr17:63947875
| GH-LCR, SCN4A | | Familial 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 |
| - GRCh37:
- Chr17:62019016
- GRCh38:
- Chr17:63941656
| GH-LCR, SCN4A | | 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,
Familial hyperkalemic periodic paralysis | Likely benign
(Nov 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62038811
- GRCh38:
- Chr17:63961451
| SCN4A | | Familial 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 |
| - GRCh37:
- Chr17:62038808
- GRCh38:
- Chr17:63961448
| SCN4A | | Familial 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 |
| - GRCh37:
- Chr17:62038643
- GRCh38:
- Chr17:63961283
| SCN4A | | 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,
Familial hyperkalemic periodic paralysis | Likely benign
(Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62028952
- GRCh38:
- Chr17:63951592
| SCN4A, GH-LCR | | Familial 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 |
| - GRCh37:
- Chr17:62022156
- GRCh38:
- Chr17:63944796
| GH-LCR, SCN4A | | Familial 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 |
| - GRCh37:
- Chr17:62026129
- GRCh38:
- Chr17:63948769
| GH-LCR, SCN4A | | Familial 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 |
| - GRCh37:
- Chr17:62038535
- GRCh38:
- Chr17:63961175
| SCN4A | | Familial 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 |
| - GRCh37:
- Chr17:62026907
- GRCh38:
- Chr17:63949547
| GH-LCR, SCN4A | | 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,
Familial hyperkalemic periodic paralysis | Likely benign
(Mar 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62049157
- GRCh38:
- Chr17:63971797
| SCN4A | R179Q | 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
(Apr 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62018147
- GRCh38:
- Chr17:63940787
| SCN4A, GH-LCR | K1832R | 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
(Jan 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62045653
- GRCh38:
- Chr17:63968293
| SCN4A | L256F | 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
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62043497
- GRCh38:
- Chr17:63966137
| SCN4A | M403V | 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 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62024475
- GRCh38:
- Chr17:63947115
| GH-LCR, SCN4A | P1124H | not 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 |
| - GRCh37:
- Chr17:62050138
- GRCh38:
- Chr17:63972778
| SCN4A | R22W | 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
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62019249
- GRCh38:
- Chr17:63941889
| GH-LCR, SCN4A | A1465S | 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
(Jul 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62018232
- GRCh38:
- Chr17:63940872
| GH-LCR, SCN4A | T1804A | 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 | Uncertain significance
(Aug 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62029137
- GRCh38:
- Chr17:63951777
| GH-LCR, SCN4A | G834S | Inborn 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 |
| - GRCh37:
- Chr17:62049520
- GRCh38:
- Chr17:63972160
| SCN4A | P153L | 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
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62048546
- GRCh38:
- Chr17:63971186
| SCN4A | L227F | not 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 |
| - GRCh37:
- Chr17:62043877
- GRCh38:
- Chr17:63966517
| SCN4A | N355S | not 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 |
| - GRCh37:
- Chr17:62018367
- GRCh38:
- Chr17:63941007
| GH-LCR, SCN4A | D1759N | 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 | Uncertain significance
(Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62041998
- GRCh38:
- Chr17:63964638
| SCN4A | V428L | 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 | Uncertain significance
(Dec 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62041029
- GRCh38:
- Chr17:63963669
| SCN4A | | 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
(Sep 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62036770
- GRCh38:
- Chr17:63959410
| SCN4A | M625T | 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
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62026078
- GRCh38:
- Chr17:63948718
| GH-LCR, SCN4A | R1013C | 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, not provided, Familial hyperkalemic periodic paralysis
| Uncertain significance
(May 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62018227
- GRCh38:
- Chr17:63940867
| SCN4A, GH-LCR | M1805I | 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
(Dec 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62049119
- GRCh38:
- Chr17:63971759
| SCN4A | P192S | 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 | Uncertain significance
(Aug 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62026879
- GRCh38:
- Chr17:63949519
| GH-LCR, SCN4A | Q955K | 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 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62050021
- GRCh38:
- Chr17:63972661
| SCN4A | G61S | 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
(Jun 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62018405
- GRCh38:
- Chr17:63941045
| GH-LCR, SCN4A | S1746F | 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
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62050012
- GRCh38:
- Chr17:63972652
| SCN4A | L64V | Familial 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 |
| - GRCh37:
- Chr17:62028926
- GRCh38:
- Chr17:63951566
| GH-LCR, SCN4A | P904Q | 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
(Mar 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62038585
- GRCh38:
- Chr17:63961225
| SCN4A | H605Y | 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
(Aug 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62018177
- GRCh38:
- Chr17:63940817
| GH-LCR, SCN4A | P1822H | 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
(Jan 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62036645
- GRCh38:
- Chr17:63959285
| SCN4A | V667M | 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 | Uncertain significance
(Oct 5, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62020207
- GRCh38:
- Chr17:63942847
| GH-LCR, SCN4A | V1423I | 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
(Nov 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62026125
- GRCh38:
- Chr17:63948765
| GH-LCR, SCN4A | A997V | 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 | Uncertain significance
(Sep 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62018994
- GRCh38:
- Chr17:63941634
| GH-LCR, SCN4A | P1550S | not 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 |
| - GRCh37:
- Chr17:62048552
- GRCh38:
- Chr17:63971192
| SCN4A | R225W | Congenital myasthenic syndrome 16, Familial hyperkalemic periodic paralysis | Uncertain significance
(Dec 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62041095
- GRCh38:
- Chr17:63963735
| SCN4A | G515R | not 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 |
| - GRCh37:
- Chr17:62050111
- GRCh38:
- Chr17:63972751
| SCN4A | R31W | not 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 |
| - GRCh37:
- Chr17:62050147
- GRCh38:
- Chr17:63972787
| SCN4A | P19S | not 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 |
| - GRCh37:
- Chr17:62028997-62028999
- GRCh38:
- Chr17:63951637-63951639
| GH-LCR, SCN4A | K880del | not 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 |
| - GRCh37:
- Chr17:62024461
- GRCh38:
- Chr17:63947101
| GH-LCR, SCN4A | R1129W | Familial 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 |
| - GRCh37:
- Chr17:62018194
- GRCh38:
- Chr17:63940834
| GH-LCR, SCN4A | | Familial 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 |
| - GRCh37:
- Chr17:62026784
- GRCh38:
- Chr17:63949424
| GH-LCR, SCN4A | | 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 | Likely benign
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62045723
- GRCh38:
- Chr17:63968363
| SCN4A | | 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 | Likely benign
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62049217
- GRCh38:
- Chr17:63971857
| SCN4A | | 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 | Likely benign
(Jul 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62018755
- GRCh38:
- Chr17:63941395
| GH-LCR, SCN4A | | 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 | Likely benign
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62028777
- GRCh38:
- Chr17:63951417
| GH-LCR, SCN4A | | 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 | Likely benign
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62019319
- GRCh38:
- Chr17:63941959
| GH-LCR, SCN4A | | 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 | Likely benign
(Aug 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62029186
- GRCh38:
- Chr17:63951826
| SCN4A, GH-LCR | | 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 | Likely benign
(Jun 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62041078
- GRCh38:
- Chr17:63963718
| SCN4A | | Familial 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 |
| - GRCh37:
- Chr17:62018403
- GRCh38:
- Chr17:63941043
| GH-LCR, SCN4A | M1747V | Familial 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 |
| - GRCh37:
- Chr17:62048540
- GRCh38:
- Chr17:63971180
| SCN4A | T229fs | Congenital myasthenic syndrome 16 | Pathogenic
(Aug 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr17:62028987
- GRCh38:
- Chr17:63951627
| GH-LCR, SCN4A | E884K | Hypokalemic 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 |
| - GRCh37:
- Chr17:62049559
- GRCh38:
- Chr17:63972199
| SCN4A | T140I | Hypokalemic 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 |
| - GRCh37:
- Chr17:62026035
- GRCh38:
- Chr17:63948675
| GH-LCR, SCN4A | I1027T | Hypokalemic 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 |
| - GRCh37:
- Chr17:62038744
- GRCh38:
- Chr17:63961384
| SCN4A | A552T | Hypokalemic 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 |
| - GRCh37:
- Chr17:62049739
- GRCh38:
- Chr17:63972379
| SCN4A | R122L | Inborn 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 |
| - GRCh37:
- Chr17:62018424
- GRCh38:
- Chr17:63941064
| GH-LCR, SCN4A | R1740W | 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, Paramyotonia congenita of Von Eulenburg | Uncertain significance
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62049718
- GRCh38:
- Chr17:63972358
| SCN4A | I129T | Inborn 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 |
| - GRCh37:
- Chr17:62038700
- GRCh38:
- Chr17:63961340
| SCN4A | K566N | 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
(Jul 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62018136
- GRCh38:
- Chr17:63940776
| GH-LCR, SCN4A | V1836I | 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
(Aug 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62041032
- GRCh38:
- Chr17:63963672
| SCN4A | E536K | 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
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62041902
- GRCh38:
- Chr17:63964542
| SCN4A | E460K | 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
(May 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62019040
- GRCh38:
- Chr17:63941680
| GH-LCR, SCN4A | | Hypokalemic 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 |
| - GRCh37:
- Chr17:62049737
- GRCh38:
- Chr17:63972377
| SCN4A | G123R | 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
(Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62019134
- GRCh38:
- Chr17:63941774
| GH-LCR, SCN4A | N1503S | 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, not provided | Uncertain significance
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62050047
- GRCh38:
- Chr17:63972687
| SCN4A | R52Q | 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, not provided | Uncertain significance
(Jul 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62045547
- GRCh38:
- Chr17:63968187
| SCN4A | N291S | 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
(Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62038687
- GRCh38:
- Chr17:63961327
| SCN4A | I571V | 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
(Oct 12, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62019240
- GRCh38:
- Chr17:63941880
| GH-LCR, SCN4A | I1468V | Familial 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 |
| - GRCh37:
- Chr17:62045680
- GRCh38:
- Chr17:63968320
| SCN4A | V247L | 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, Familial hyperkalemic periodic paralysis | Uncertain significance
(Nov 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62020394
- GRCh38:
- Chr17:63943034
| GH-LCR, SCN4A | M1360I | 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, Familial hyperkalemic periodic paralysis | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62019123
- GRCh38:
- Chr17:63941763
| GH-LCR, SCN4A | V1507I | 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, Familial hyperkalemic periodic paralysis | Uncertain significance
(Sep 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62029158
- GRCh38:
- Chr17:63951798
| GH-LCR, SCN4A | G827W | 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,
Familial hyperkalemic periodic paralysis | Uncertain significance
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62049125
- GRCh38:
- Chr17:63971765
| SCN4A | R190W | not 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 |
| - GRCh37:
- Chr17:62028947
- GRCh38:
- Chr17:63951587
| GH-LCR, SCN4A | M897T | 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,
Familial hyperkalemic periodic paralysis | Uncertain significance
(Jun 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62019236
- GRCh38:
- Chr17:63941876
| GH-LCR, SCN4A | R1469Q | 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
(Jan 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62045556
- GRCh38:
- Chr17:63968196
| SCN4A | N288S | 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
(Jul 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62025428
- GRCh38:
- Chr17:63948068
| GH-LCR, SCN4A | | 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
(Dec 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:62019278
- GRCh38:
- Chr17:63941918
| SCN4A, GH-LCR | I1455T | Hypokalemic 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 |
| - GRCh37:
- Chr17:62020216
- GRCh38:
- Chr17:63942856
| GH-LCR, SCN4A | D1420N | Familial 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 |
| - GRCh37:
- Chr17:62018067
- GRCh38:
- Chr17:63940707
| GH-LCR, SCN4A | | Paramyotonia 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 |
| - GRCh37:
- Chr17:62041078
- GRCh38:
- Chr17:63963718
| SCN4A | | Familial 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 |
| - GRCh37:
- Chr17:62016913
- GRCh38:
- Chr17:63939553
| GH-LCR, SCN4A | | Familial 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 |
| - GRCh37:
- Chr17:62026053
- GRCh38:
- Chr17:63948693
| GH-LCR, SCN4A | R1021H | Congenital 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 |
| - GRCh37:
- Chr17:62049717
- GRCh38:
- Chr17:63972357
| SCN4A | I129M | Paramyotonia 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 |