Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys)	SNV Germline	Chr17:63941940	Pathogenic	Paramyotonia congenita of Von Eulenburg Condition: not provided Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 2	Criteria Provided Multiple Submitters No Conflicts	CA117835	rs_121908544	9 SubmittersRCV000006258 RCV000255921 RCV000206951 RCV001813736 RCV003989102
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)	SNV Germline	Chr17:63941939	Pathogenic	Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis Rhabdomyolysis Condition: not provided Potassium-aggravated myotonia Delayed gross motor development Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 SCN4A-related non-dystrophic myotonia	Criteria Provided Multiple Submitters No Conflicts	CA117836	rs_121908545	12 SubmittersRCV000006259 RCV000206992 RCV000662289 RCV000517055 RCV002288469 RCV001775065 RCV003483425 RCV002267600
NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp)	SNV Germline	Chr17:63957515	Pathogenic/Likely pathogenic	Normokalemic periodic paralysis, potassium-sensitive Hyperkalemic periodic paralysis Condition: not provided Paramyotonia congenita of Von Eulenburg	Criteria Provided Multiple Submitters No Conflicts	CA117839	rs_121908556	8 SubmittersRCV000006263 RCV000206954 RCV000713092 RCV001254163
NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)	SNV Germline	Chr17:63943846	Pathogenic	Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis Condition: not provided SCN4A-related non-dystrophic myotonia	Criteria Provided Multiple Submitters No Conflicts	CA117840	rs_80338792	9 SubmittersRCV000006265 RCV000006264 RCV000690377 RCV000479620 RCV002267601
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)	SNV Germline	Chr17:63943825	Pathogenic	Paramyotonia congenita of Von Eulenburg Condition: not provided 6 conditions Hyperkalemic periodic paralysis SCN4A-related disorder SCN4A-related non-dystrophic myotonia Congenital myasthenic syndrome 16	Criteria Provided Multiple Submitters No Conflicts	CA117841	rs_121908547	11 SubmittersRCV000006266 RCV000414134 RCV000763019 RCV000540455 RCV004532297 RCV002267602 RCV003455986
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met)	SNV Germline	Chr17:63941517	Pathogenic	Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Condition: not provided Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2	Criteria Provided Multiple Submitters No Conflicts	CA117842	rs_121908548	8 SubmittersRCV000006268 RCV000006267 RCV000518064 RCV000800365 RCV001849259
NM_000334.4(SCN4A):c.4298T>G (p.Leu1433Arg)	SNV Germline	Chr17:63941984	Pathogenic	Paramyotonia congenita of Von Eulenburg SCN4A-related non-dystrophic myotonia	No Assertion Criteria Provided	CA117844	rs_121908550	2 SubmittersRCV000006270 RCV002267603
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala)	SNV Germline	Chr17:63943846	Pathogenic/Likely pathogenic	Condition: not provided Hyperkalemic periodic paralysis Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Myotonia fluctuans Potassium-aggravated myotonia	Criteria Provided Multiple Submitters No Conflicts	CA117845	rs_80338792	10 SubmittersRCV000153907 RCV000525753 RCV001535772 RCV001799587 RCV002288470
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile)	SNV Germline	Chr17:63944708	Pathogenic	Paramyotonia congenita of Von Eulenburg Condition: not provided SCN4A-related disorder Hyperkalemic periodic paralysis	Criteria Provided Multiple Submitters No Conflicts	CA117846	rs_121908551	8 SubmittersRCV000006272 RCV000396578 RCV000509130 RCV000654659
NM_000334.4(SCN4A):c.4367G>A (p.Gly1456Glu)	SNV Germline	Chr17:63941915	Pathogenic	Paramyotonia congenita of Von Eulenburg	No Assertion Criteria Provided	CA117849	rs_121908554	1 SubmittersRCV000006278
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)	SNV Germline	Chr17:63943846	Pathogenic	Condition: not provided Hyperkalemic periodic paralysis Potassium-aggravated myotonia Myotonia permanens 6 conditions Paramyotonia congenita of Von Eulenburg	Criteria Provided Multiple Submitters No Conflicts	CA117852	rs_80338792	8 SubmittersRCV000489251 RCV000552020 RCV001823093 RCV001799588 RCV002490328 RCV002225070
NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile)	SNV Germline	Chr17:63941854	Pathogenic/Likely pathogenic	Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis Condition: not provided Acetazolamide-responsive myotonia	Criteria Provided Multiple Submitters No Conflicts	CA117853	rs_121908559	5 SubmittersRCV000006284 RCV001046179 RCV001781191 RCV003323353
NM_000334.4(SCN4A):c.3891C>A (p.Asn1297Lys)	SNV Germline	Chr17:63944694	Pathogenic	Paramyotonia congenita/hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg	Criteria Provided Single Submitter	CA117854	rs_121908560	2 SubmittersRCV000006285 RCV003996078
NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr)	SNV Germline	Chr17:63957460	Pathogenic	Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis Condition: not provided SCN4A-related non-dystrophic myotonia	Criteria Provided Multiple Submitters No Conflicts	CA117855	rs_80338956	5 SubmittersRCV000006286 RCV000020266 RCV000485864 RCV002267605
NM_000334.4(SCN4A):c.421A>G (p.Ile141Val)	SNV Germline	Chr17:63972197	Pathogenic	Paramyotonia congenita of Von Eulenburg	No Assertion Criteria Provided	CA117856	rs_121908561	1 SubmittersRCV000006287
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg)	SNV Germline	Chr17:63940878	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_267604988	4 SubmittersRCV000704360 RCV001127954 RCV001127953 RCV001127955 RCV001127956 RCV002460908 RCV004019085
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys)	SNV Germline	Chr17:63945476	Conflicting classifications of pathogenicity	not specified Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Conflicting Classifications	CA155075	rs_201916531	4 SubmittersRCV000118269 RCV000289506 RCV000390854 RCV000351508 RCV000392527 RCV000811377 RCV003488392
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln)	SNV Germline	Chr17:63947100	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 2 Condition: not provided Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 Potassium-aggravated myotonia	Criteria Provided Conflicting Classifications	CA345719	rs_527236149	7 SubmittersRCV000132736 RCV000395392 RCV000547264 RCV000995863 RCV001127055 RCV001127056
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=)	SNV Germline	Chr17:63951799	Conflicting classifications of pathogenicity	Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Condition: not provided Hyperkalemic periodic paralysis SCN4A-related disorder	Criteria Provided Conflicting Classifications	CA240235	rs_371914255	5 SubmittersRCV000283764 RCV000308305 RCV000344721 RCV000401155 RCV000724875 RCV001089198 RCV004539619
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile)	SNV Germline	Chr17:63941592	Conflicting classifications of pathogenicity	not specified Potassium-aggravated myotonia Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Condition: not provided Hyperkalemic periodic paralysis SCN4A-related disorder	Criteria Provided Conflicting Classifications	CA205612	rs_202106192	8 SubmittersRCV000192652 RCV000276428 RCV000331539 RCV000356751 RCV000371033 RCV000713115 RCV001083289 RCV004537399
NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn)	SNV Germline	Chr17:63971780	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA245096	rs_778661227	4 SubmittersRCV000286779 RCV000303252 RCV000399551 RCV000400438 RCV000713125 RCV000812584
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)	SNV Germline	Chr17:63968107	Conflicting classifications of pathogenicity	not specified Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Inborn genetic diseases Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8709989	rs_199676994	10 SubmittersRCV000239078 RCV000300244 RCV000303708 RCV000338802 RCV000400595 RCV000624799 RCV000713127 RCV001082389
NM_000334.4(SCN4A):c.4581C>A (p.Ile1527=)	SNV Germline	Chr17:63941701	Conflicting classifications of pathogenicity	not specified Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2	Criteria Provided Conflicting Classifications	CA8708941	rs_752523459	3 SubmittersRCV000253433 RCV001126270 RCV001126272 RCV001126274 RCV001126271 RCV001126273
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=)	SNV Germline	Chr17:63942899	Conflicting classifications of pathogenicity	not specified Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8709038	rs_141215137	6 SubmittersRCV000252947 RCV000297994 RCV000349403 RCV000403429 RCV000406690 RCV000713108 RCV001081683
NM_000334.4(SCN4A):c.4125C>T (p.Asp1375=)	SNV Germline	Chr17:63942989	Conflicting classifications of pathogenicity	not specified Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2	Criteria Provided Conflicting Classifications	CA8709048	rs_375607705	2 SubmittersRCV000244648 RCV000269326 RCV000277723 RCV000326699 RCV000330459 RCV000388217
NM_000334.4(SCN4A):c.3429C>T (p.Phe1143=)	SNV Germline	Chr17:63947057	Conflicting classifications of pathogenicity	not specified Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Condition: not provided	Criteria Provided Conflicting Classifications	CA8709287	rs_373597946	5 SubmittersRCV000247115 RCV000877391 RCV001126658 RCV001126659 RCV001127053 RCV001127054 RCV003422167
NM_000334.4(SCN4A):c.1100+7G>A	SNV Germline	Chr17:63966474	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Condition: not provided Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16 Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8709939	rs_200770684	9 SubmittersRCV000243786 RCV000301554 RCV000266497 RCV000355473 RCV000358716 RCV000513381 RCV000576474 RCV001085026
NM_000334.4(SCN4A):c.483-9C>A	SNV Germline	Chr17:63971859	Conflicting classifications of pathogenicity	Potassium-aggravated myotonia not specified Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8710143	rs_201552497	4 SubmittersRCV000290044 RCV000250421 RCV000380892 RCV000286461 RCV000326290 RCV000713117 RCV000823932
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu)	SNV Germline	Chr17:63972215	Conflicting classifications of pathogenicity	not specified Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Condition: not provided Hyperkalemic periodic paralysis SCN4A-related disorder	Criteria Provided Conflicting Classifications	CA8710164	rs_148028364	6 SubmittersRCV000252827 RCV000282590 RCV000297937 RCV000394071 RCV000398536 RCV000513070 RCV001083859 RCV004529423
NM_000334.4(SCN4A):c.*2150C>A	SNV Germline	Chr17:63938621	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications	CA10640187	rs_182791237	1 SubmittersRCV000302942 RCV000303993 RCV000342462 RCV000355485 RCV000395408
NM_000334.4(SCN4A):c.*129G>T	SNV Germline	Chr17:63940642	Conflicting classifications of pathogenicity	Potassium-aggravated myotonia Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA10640206	rs_140026321	1 SubmittersRCV000289000 RCV000293949 RCV000351216 RCV000346264 RCV000389473
NM_000334.4(SCN4A):c.*86G>T	SNV Germline	Chr17:63940685	Conflicting classifications of pathogenicity	Potassium-aggravated myotonia Congenital myasthenic syndrome 16 Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg	Criteria Provided Conflicting Classifications	CA10640210	rs_566876110	1 SubmittersRCV000273794 RCV000299249 RCV000356463 RCV000353404 RCV000390582
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr)	SNV Germline	Chr17:63940989	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 not specified Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8708788	rs_531694454	3 SubmittersRCV000284690 RCV000279048 RCV000339663 RCV000379267 RCV000517790 RCV000874919
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg)	SNV Germline	Chr17:63940998	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8708790	rs_763493738	2 SubmittersRCV000290622 RCV000345319 RCV000384970 RCV000393903 RCV000813822
NM_000334.4(SCN4A):c.5274C>T (p.His1758=)	SNV Germline	Chr17:63941008	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 not specified Hyperkalemic periodic paralysis SCN4A-related disorder	Criteria Provided Conflicting Classifications	CA8708795	rs_113418988	4 SubmittersRCV000261928 RCV000311318 RCV000351292 RCV000404024 RCV000504380 RCV000552372 RCV004537816
NM_000334.4(SCN4A):c.2995G>A (p.Val999Met)	SNV Germline	Chr17:63948760	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis Condition: not provided SCN4A-related disorder	Criteria Provided Conflicting Classifications	CA8709421	rs_377277110	4 SubmittersRCV000270326 RCV000271110 RCV000332377 RCV000362158 RCV000555752 RCV002280115 RCV004537817
NM_000334.4(SCN4A):c.*2169C>G	SNV Germline	Chr17:63938602	Conflicting classifications of pathogenicity	Potassium-aggravated myotonia Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg	Criteria Provided Conflicting Classifications	CA10646416	rs_191754378	1 SubmittersRCV000291323 RCV000343978 RCV000349739 RCV000383271 RCV000402544
NM_000334.4(SCN4A):c.*2072G>A	SNV Germline	Chr17:63938699	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA10646417	rs_192346663	1 SubmittersRCV000263006 RCV000276627 RCV000297055 RCV000334031 RCV000354954
NM_000334.4(SCN4A):c.*1916C>T	SNV Germline	Chr17:63938855	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA10646423	rs_139537251	1 SubmittersRCV000287406 RCV000340051 RCV000345840 RCV000379487 RCV000404263
NM_000334.4(SCN4A):c.*1324T>C	SNV Germline	Chr17:63939447	Conflicting classifications of pathogenicity	Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications	CA10646430	rs_544883913	1 SubmittersRCV000276172 RCV000307931 RCV000312759 RCV000370722 RCV000394140
NM_000334.4(SCN4A):c.*304G>A	SNV Germline	Chr17:63940467	Conflicting classifications of pathogenicity	Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA10646438	rs_545908155	1 SubmittersRCV000262443 RCV000316437 RCV000319845 RCV000373418 RCV000385914
NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=)	SNV Germline	Chr17:63940825	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia	Criteria Provided Conflicting Classifications	CA8708749	rs_761023866	2 SubmittersRCV000278763 RCV000301249 RCV000336430 RCV000404426 RCV000408363
NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu)	SNV Germline	Chr17:63941396	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Potassium-aggravated myotonia Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Condition: not provided	Criteria Provided Conflicting Classifications	CA8708885	rs_202102815	4 SubmittersRCV000265921 RCV000305878 RCV000336274 RCV000360583 RCV000402814 RCV000654673
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser)	SNV Germline	Chr17:63941571	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA8708910	rs_772552529	4 SubmittersRCV000286107 RCV000335223 RCV000374780 RCV000408219 RCV000534953 RCV002522999 RCV003137924
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val)	SNV Germline	Chr17:63942832	Conflicting classifications of pathogenicity	Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8709023	rs_368822028	5 SubmittersRCV000288438 RCV000292167 RCV000352745 RCV000382835 RCV000388694 RCV003137926 RCV003352836
NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=)	SNV Germline	Chr17:63947126	Conflicting classifications of pathogenicity	Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8709297	rs_377187913	2 SubmittersRCV000261415 RCV000264831 RCV000322319 RCV000362052 RCV000654704
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp)	SNV Germline	Chr17:63948619	Conflicting classifications of pathogenicity	Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Condition: not provided Hyperkalemic periodic paralysis not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8709386	rs_759982229	6 SubmittersRCV000298316 RCV000301675 RCV000341585 RCV000393109 RCV000766442 RCV000697130 RCV000479192 RCV002523001
NM_000334.4(SCN4A):c.2854-5C>T	SNV Germline	Chr17:63949533	Conflicting classifications of pathogenicity	Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 not specified Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Conflicting Classifications	CA8709466	rs_374039266	5 SubmittersRCV000275763 RCV000316895 RCV000311093 RCV000370375 RCV000438809 RCV000526523 RCV001092726
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser)	SNV Germline	Chr17:63951654	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 not specified Condition: not provided Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Hyperkalemic periodic paralysis SCN4A-related disorder	Criteria Provided Conflicting Classifications	CA8709542	rs_201148948	8 SubmittersRCV000279770 RCV000299674 RCV000334804 RCV000358171 RCV000489566 RCV000761997 RCV001084946 RCV000576326 RCV004537818
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val)	SNV Germline	Chr17:63951714	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 not specified Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Conflicting Classifications	CA8709564	rs_372019457	5 SubmittersRCV000281591 RCV000336729 RCV000371513 RCV000377274 RCV000518648 RCV000654664 RCV003137928
NM_000334.4(SCN4A):c.2256C>T (p.Leu752=)	SNV Germline	Chr17:63957282	Conflicting classifications of pathogenicity	Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis Potassium-aggravated myotonia Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications	CA8709629	rs_375596512	2 SubmittersRCV000285375 RCV000322288 RCV000344921 RCV000380879 RCV000379780
NM_000334.4(SCN4A):c.1845+7A>C	SNV Germline	Chr17:63961186	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 SCN4A-related disorder	Criteria Provided Conflicting Classifications	CA8709736	rs_141021600	3 SubmittersRCV000291002 RCV000311010 RCV000345912 RCV000352135 RCV000398737 RCV004544585
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=)	SNV Germline	Chr17:63961385	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia not specified Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Conflicting Classifications	CA8709763	rs_201199086	5 SubmittersRCV000264468 RCV000270508 RCV000324372 RCV000378934 RCV000517866 RCV000654684 RCV003409512
NM_000334.4(SCN4A):c.1594G>A (p.Asp532Asn)	SNV Germline	Chr17:63963684	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications	CA8709798	rs_747479565	1 SubmittersRCV000291355 RCV000325619 RCV000329956 RCV000384873 RCV000386753
NM_000334.4(SCN4A):c.1413G>A (p.Met471Ile)	SNV Germline	Chr17:63964507	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Congenital myasthenic syndrome 16 Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8709850	rs_527384137	3 SubmittersRCV000317450 RCV000333024 RCV000374441 RCV000389415 RCV000839298 RCV001080681
NM_000334.4(SCN4A):c.1281C>T (p.Phe427=)	SNV Germline	Chr17:63964639	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia not specified Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8709879	rs_369445518	3 SubmittersRCV000260665 RCV000275835 RCV000333499 RCV000353266 RCV000517185 RCV000529325
NM_000334.4(SCN4A):c.1100+15G>A	SNV Germline	Chr17:63966466	Conflicting classifications of pathogenicity	Potassium-aggravated myotonia Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications	CA8709937	rs_533321924	2 SubmittersRCV000298173 RCV000313546 RCV000352046 RCV000392293 RCV000398957
NM_000334.4(SCN4A):c.-74G>A	SNV Germline	Chr17:63972915	Conflicting classifications of pathogenicity	Potassium-aggravated myotonia Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg	Criteria Provided Conflicting Classifications	CA10646463	rs_546675124	1 SubmittersRCV000274454 RCV000289704 RCV000329541 RCV000325814 RCV000384006
NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His)	SNV Germline	Chr17:63941077	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8708818	rs_199944673	2 SubmittersRCV000268020 RCV000298506 RCV000323138 RCV000353353 RCV001054673
NM_000334.4(SCN4A):c.4891G>A (p.Ala1631Thr)	SNV Germline	Chr17:63941391	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications	CA8708881	rs_201115695	1 SubmittersRCV000294885 RCV000300004 RCV000349019 RCV000389100 RCV000407395
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=)	SNV Germline	Chr17:63941419	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis Potassium-aggravated myotonia not specified	Criteria Provided Conflicting Classifications	CA8708892	rs_769625349	3 SubmittersRCV000277970 RCV000293279 RCV000320145 RCV000333010 RCV000387599 RCV000516431
NM_000334.4(SCN4A):c.4709A>G (p.Asn1570Ser)	SNV Germline	Chr17:63941573	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8708911	rs_531658524	3 SubmittersRCV000310505 RCV000341016 RCV000365211 RCV000406650 RCV000408216 RCV002524435
NM_000334.4(SCN4A):c.4667A>G (p.Asn1556Ser)	SNV Germline	Chr17:63941615	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg	Criteria Provided Conflicting Classifications	CA8708921	rs_751454852	2 SubmittersRCV000261866 RCV000286707 RCV000317202 RCV000323034 RCV000371794
NM_000334.4(SCN4A):c.4289-4G>A	SNV Germline	Chr17:63941997	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis Potassium-aggravated myotonia	Criteria Provided Conflicting Classifications	CA8708999	rs_750364111	2 SubmittersRCV000261012 RCV000301113 RCV000297456 RCV000355938 RCV000361807
NM_000334.4(SCN4A):c.2862G>A (p.Pro954=)	SNV Germline	Chr17:63949520	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2	Criteria Provided Conflicting Classifications	CA8709459	rs_375375167	1 SubmittersRCV000303501 RCV000307091 RCV000346621 RCV000364129 RCV000392040
NM_000334.4(SCN4A):c.2592C>T (p.Ala864=)	SNV Germline	Chr17:63951685	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia not specified SCN4A-related disorder	Criteria Provided Conflicting Classifications	CA8709556	rs_200354336	4 SubmittersRCV000269404 RCV000304604 RCV000329154 RCV000363907 RCV000393740 RCV001660671 RCV004544584
NM_000334.4(SCN4A):c.858G>A (p.Pro286=)	SNV Germline	Chr17:63968201	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia	Criteria Provided Conflicting Classifications	CA8710020	rs_560230431	2 SubmittersRCV000275919 RCV000329858 RCV000333300 RCV000371590 RCV000367925
NM_000334.4(SCN4A):c.483-5C>A	SNV Germline	Chr17:63971855	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA8710136	rs_191547933	7 SubmittersRCV000274689 RCV000333457 RCV000329820 RCV000384396 RCV000527986 RCV000600116 RCV001697669
NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys)	SNV Germline	Chr17:63972380	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 16 Hyperkalemic periodic paralysis Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA8710196	rs_150158100	5 SubmittersRCV000269546 RCV000309638 RCV000324805 RCV000364205 RCV000379284 RCV001310375
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met)	SNV Germline	Chr17:63943062	Conflicting classifications of pathogenicity	Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8709062	rs_545724550	4 SubmittersRCV000279601 RCV000281184 RCV000338105 RCV000371720 RCV000702745 RCV000713105 RCV002523000
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)	SNV Germline	Chr17:63961242	Conflicting classifications of pathogenicity	Potassium-aggravated myotonia Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis Condition: not provided Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Hyperkalemic periodic paralysis SCN4A-related disorder	Criteria Provided Conflicting Classifications	CA8709746	rs_187401185	8 SubmittersRCV000263270 RCV000298352 RCV000299745 RCV000391174 RCV001086523 RCV000416101 RCV000576587 RCV004537819
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr)	SNV Germline	Chr17:63963816	Conflicting classifications of pathogenicity	Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg not specified Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8709830	rs_185941768	5 SubmittersRCV000301623 RCV000358802 RCV000393897 RCV000393899 RCV000486439 RCV000766484 RCV001080027
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys)	SNV Germline	Chr17:63966224	Conflicting classifications of pathogenicity	Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8709918	rs_766463226	5 SubmittersRCV000288041 RCV000291434 RCV000345383 RCV000348654 RCV000383669 RCV000945786 RCV001288735
NM_000334.4(SCN4A):c.1011T>C (p.Asp337=)	SNV Germline	Chr17:63968048	Conflicting classifications of pathogenicity	Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 not specified Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Conflicting Classifications	CA8709976	rs_372791798	4 SubmittersRCV000270842 RCV000328128 RCV000381655 RCV000385049 RCV000611460 RCV000873888 RCV001718679
NM_000334.4(SCN4A):c.-4G>A	SNV Germline	Chr17:63972845	Conflicting classifications of pathogenicity	Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis Potassium-aggravated myotonia Congenital myasthenic syndrome 16 Condition: not provided	Criteria Provided Conflicting Classifications	CA8710313	rs_565414568	2 SubmittersRCV000286537 RCV000289842 RCV000344781 RCV000384345 RCV000395817 RCV002254922
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile)	SNV Germline	Chr17:63941169	Pathogenic/Likely pathogenic	Hyperkalemic periodic paralysis Condition: not provided Paramyotonia congenita of Von Eulenburg	Criteria Provided Multiple Submitters No Conflicts	CA16620553	rs_1064794243	5 SubmittersRCV000654650 RCV000484046 RCV002289626
NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr)	SNV Germline	Chr17:63968041	Conflicting classifications of pathogenicity	Condition: not provided 6 conditions Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Microcephaly Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg	Criteria Provided Conflicting Classifications	CA8709973	rs_147936148	6 SubmittersRCV000492837 RCV000764145 RCV001122194 RCV001122196 RCV001122193 RCV001252850 RCV001122195 RCV001122197
NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile)	SNV Germline	Chr17:63949492	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications	CA8709453	rs_200947169	4 SubmittersRCV000498111 RCV001079858 RCV001126869 RCV001126870 RCV001126871 RCV001126872
NM_000334.4(SCN4A):c.999C>T (p.Asn333=)	SNV Germline	Chr17:63968060	Conflicting classifications of pathogenicity	not specified Hyperkalemic periodic paralysis Potassium-aggravated myotonia Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Condition: not provided Paramyotonia congenita of Von Eulenburg	Criteria Provided Conflicting Classifications	CA8709980	rs_149726115	5 SubmittersRCV000516880 RCV000654683 RCV001124976 RCV001124974 RCV001124975 RCV001696979 RCV001124977
NM_000334.4(SCN4A):c.45G>A (p.Glu15=)	SNV Germline	Chr17:63972797	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg	Criteria Provided Conflicting Classifications	CA8710305	rs_763166498	2 SubmittersRCV000536313 RCV001123697 RCV001126368 RCV001123698 RCV001123699
NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=)	SNV Germline	Chr17:63941101	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Condition: not provided Hypokalemic periodic paralysis, type 2 SCN4A-related disorder	Criteria Provided Conflicting Classifications	CA8708825	rs_368263333	5 SubmittersRCV000530869 RCV001125080 RCV001126048 RCV001125079 RCV001091886 RCV001125081 RCV004543246
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser)	SNV Germline	Chr17:63951573	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis 6 conditions Condition: not provided Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Congenital myasthenic syndrome 16 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8709518	rs_200517944	7 SubmittersRCV000654656 RCV000764142 RCV000992893 RCV001126957 RCV001126959 RCV001126956 RCV001126958 RCV003303080
NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=)	SNV Germline	Chr17:63941134	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia	Criteria Provided Conflicting Classifications	CA501348304	rs_1244264430	2 SubmittersRCV000654686 RCV001126050 RCV001126051 RCV001126052 RCV001126049
NM_000334.4(SCN4A):c.2220G>A (p.Pro740=)	SNV Germline	Chr17:63957318	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg	Criteria Provided Conflicting Classifications	CA8709633	rs_368278422	2 SubmittersRCV000654681 RCV001124588 RCV001124589 RCV001125592 RCV001125593
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys)	SNV Germline	Chr17:63964566	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis Potassium-aggravated myotonia Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_372631097	8 SubmittersRCV001552589 RCV000688828 RCV001127862 RCV001127863 RCV001127864 RCV001127865 RCV001535724 RCV002544829
NM_000334.4(SCN4A):c.219G>A (p.Pro73=)	SNV Germline	Chr17:63972623	Conflicting classifications of pathogenicity	Condition: not provided Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications		rs_779890709	3 SubmittersRCV000713096 RCV001126276 RCV001126277 RCV001126278 RCV001125304 RCV001126275
NM_000334.4(SCN4A):c.2065C>T (p.Leu689Phe)	SNV Germline	Chr17:63957473	Likely pathogenic	Condition: not provided Paramyotonia congenita of Von Eulenburg	Criteria Provided Single Submitter		rs_80338955	2 SubmittersRCV000761999 RCV001807649
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr)	SNV Germline	Chr17:63940881	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16 Condition: not provided	Criteria Provided Conflicting Classifications		rs_201192904	5 SubmittersRCV000801375 RCV001124968 RCV001122190 RCV001122191 RCV001122192 RCV001535692 RCV001662830
NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr)	SNV Germline	Chr17:63941499	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia	Criteria Provided Conflicting Classifications		rs_761947899	2 SubmittersRCV000801176 RCV001126167 RCV001126168 RCV001128247 RCV001128246
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met)	SNV Germline	Chr17:63943066	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Condition: not provided Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications		rs_200274258	4 SubmittersRCV000807569 RCV001122808 RCV001122809 RCV001122806 RCV001288744 RCV001122807
NM_000334.4(SCN4A):c.2778C>T (p.Ile926=)	SNV Germline	Chr17:63951499	Conflicting classifications of pathogenicity	Condition: not provided Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications		rs_769634298	3 SubmittersRCV000833262 RCV001124289 RCV001124290 RCV001123198 RCV001123200 RCV001123199
NM_000334.4(SCN4A):c.4083C>A (p.Ile1361=)	SNV Germline	Chr17:63943031	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2	Criteria Provided Conflicting Classifications		rs_374480468	3 SubmittersRCV000876179 RCV001128511 RCV001128513 RCV001128512 RCV001128509 RCV001128510
NM_000334.4(SCN4A):c.2646G>A (p.Pro882=)	SNV Germline	Chr17:63951631	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications		rs_538173069	2 SubmittersRCV000873090 RCV001127371 RCV001127372 RCV001123303 RCV001123304
NM_000334.4(SCN4A):c.951A>G (p.Ser317=)	SNV Germline	Chr17:63968108	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications		rs_185246154	2 SubmittersRCV000875882 RCV001128052 RCV001128054 RCV001128051 RCV001128053
NM_000334.4(SCN4A):c.4644C>T (p.Ser1548=)	SNV Germline	Chr17:63941638	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Condition: not provided	Criteria Provided Conflicting Classifications		rs_751973449	3 SubmittersRCV000945701 RCV001125301 RCV001126267 RCV001126268 RCV001126269 RCV001544731
NM_000334.4(SCN4A):c.52C>T (p.Arg18Cys)	SNV Germline	Chr17:63972790	Conflicting classifications of pathogenicity	Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Hyperkalemic periodic paralysis Microcephaly	Criteria Provided Conflicting Classifications		rs_78592515	3 SubmittersRCV001123693 RCV001123694 RCV001123695 RCV001123696 RCV001123692 RCV001252838
NM_000334.4(SCN4A):c.1995G>T (p.Leu665=)	SNV Germline	Chr17:63959289	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Potassium-aggravated myotonia	Criteria Provided Conflicting Classifications		rs_189925781	2 SubmittersRCV000899445 RCV001125594 RCV001125595 RCV001125597 RCV001125596
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu)	SNV Germline	Chr17:63941282	Conflicting classifications of pathogenicity	Potassium-aggravated myotonia Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Condition: not provided Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications		rs_765721076	3 SubmittersRCV001126053 RCV001049957 RCV001128147 RCV001128148 RCV000996595 RCV001128146
NM_000334.4(SCN4A):c.*2170G>A	SNV Germline	Chr17:63938601	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 16 Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2	Criteria Provided Conflicting Classifications		rs_569759069	1 SubmittersRCV001123024 RCV001123025 RCV001123026 RCV001127051 RCV001127052
NM_000334.4(SCN4A):c.4222C>A (p.Arg1408Ser)	SNV Germline	Chr17:63942892	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 Condition: not provided	Criteria Provided Conflicting Classifications		rs_118047588	4 SubmittersRCV001122705 RCV001122707 RCV001122704 RCV001122706 RCV001122708 RCV002254952
NM_000334.4(SCN4A):c.3062G>A (p.Arg1021His)	SNV Germline	Chr17:63948693	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications		rs_770497876	2 SubmittersRCV001127158 RCV001127160 RCV001127161 RCV001127157 RCV001127159
NM_000334.4(SCN4A):c.3019G>A (p.Val1007Met)	SNV Germline	Chr17:63948736	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications		rs_781028684	2 SubmittersRCV001123102 RCV001123103 RCV001127162 RCV001127163 RCV001127164
NM_000334.4(SCN4A):c.2793C>T (p.Ser931=)	SNV Germline	Chr17:63951484	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications		rs_201036204	2 SubmittersRCV001123196 RCV001123197 RCV001123193 RCV001123194 RCV001123195
NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg)	SNV Germline	Chr17:63951684	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Hyperkalemic periodic paralysis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_752159625	4 SubmittersRCV001123385 RCV001127501 RCV001127500 RCV001127498 RCV001127499 RCV002261283 RCV003246706
NM_000334.4(SCN4A):c.1575C>T (p.Ser525=)	SNV Germline	Chr17:63963703	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Condition: not provided	Criteria Provided Conflicting Classifications		rs_376538198	3 SubmittersRCV001125678 RCV001124671 RCV001124672 RCV001124673 RCV001124674 RCV001172115
NM_000334.4(SCN4A):c.1560G>C (p.Pro520=)	SNV Germline	Chr17:63963718	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications		rs_373819078	2 SubmittersRCV001127776 RCV001127778 RCV001127777 RCV001127779 RCV001127780
NM_000334.4(SCN4A):c.354C>T (p.Ser118=)	SNV Germline	Chr17:63972390	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg	Criteria Provided Conflicting Classifications		rs_753453769	2 SubmittersRCV001122514 RCV001122515 RCV001122513 RCV001125302 RCV001125303
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)	SNV Germline	Chr17:63941918	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg 6 conditions Hypokalemic periodic paralysis, type 2	Criteria Provided Conflicting Classifications		rs_377176361	8 SubmittersRCV001200229 RCV001217902 RCV001564044 RCV002480654 RCV003229884
NM_000334.4(SCN4A):c.2108T>C (p.Leu703Pro)	SNV Germline	Chr17:63957430	Likely pathogenic	Paramyotonia congenita of Von Eulenburg	No Assertion Criteria Provided		rs_2144793242	1 SubmittersRCV001374643
NM_000334.4(SCN4A):c.4418T>C (p.Phe1473Ser)	SNV Germline	Chr17:63941864	Likely pathogenic	Paramyotonia congenita of Von Eulenburg	Criteria Provided Single Submitter			1 SubmittersRCV003313329

NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys)

SNV
Germline

Chr17:63941940

Pathogenic

Paramyotonia congenita of Von Eulenburg
Condition: not provided
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA117835

rs_121908544

9 SubmittersRCV000006258 RCV000255921 RCV000206951 RCV001813736 RCV003989102

NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)

SNV
Germline

Chr17:63941939

Pathogenic

Paramyotonia congenita of Von Eulenburg
Hyperkalemic periodic paralysis
Rhabdomyolysis
Condition: not provided
Potassium-aggravated myotonia
Delayed gross motor development
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2
SCN4A-related non-dystrophic myotonia

Criteria Provided
Multiple Submitters
No Conflicts

CA117836

rs_121908545

12 SubmittersRCV000006259 RCV000206992 RCV000662289 RCV000517055 RCV002288469 RCV001775065 RCV003483425 RCV002267600

NM_000334.4(SCN4A):c.2023C>T (p.Arg675Trp)

SNV
Germline

Chr17:63957515

Pathogenic/Likely pathogenic

Normokalemic periodic paralysis, potassium-sensitive
Hyperkalemic periodic paralysis
Condition: not provided
Paramyotonia congenita of Von Eulenburg

Criteria Provided
Multiple Submitters
No Conflicts

CA117839

rs_121908556

8 SubmittersRCV000006263 RCV000206954 RCV000713092 RCV001254163

NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)

SNV
Germline

Chr17:63943846

Pathogenic

Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Hyperkalemic periodic paralysis
Condition: not provided
SCN4A-related non-dystrophic myotonia

Criteria Provided
Multiple Submitters
No Conflicts

CA117840

rs_80338792

9 SubmittersRCV000006265 RCV000006264 RCV000690377 RCV000479620 RCV002267601

NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)

SNV
Germline

Chr17:63943825

Pathogenic

Paramyotonia congenita of Von Eulenburg
Condition: not provided
6 conditions
Hyperkalemic periodic paralysis
SCN4A-related disorder
SCN4A-related non-dystrophic myotonia
Congenital myasthenic syndrome 16

Criteria Provided
Multiple Submitters
No Conflicts

CA117841

rs_121908547

11 SubmittersRCV000006266 RCV000414134 RCV000763019 RCV000540455 RCV004532297 RCV002267602 RCV003455986

NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met)

SNV
Germline

Chr17:63941517

Pathogenic

Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Condition: not provided
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA117842

rs_121908548

8 SubmittersRCV000006268 RCV000006267 RCV000518064 RCV000800365 RCV001849259

NM_000334.4(SCN4A):c.4298T>G (p.Leu1433Arg)

SNV
Germline

Chr17:63941984

Pathogenic

Paramyotonia congenita of Von Eulenburg
SCN4A-related non-dystrophic myotonia

No Assertion Criteria Provided

CA117844

rs_121908550

2 SubmittersRCV000006270 RCV002267603

NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala)

SNV
Germline

Chr17:63943846

Pathogenic/Likely pathogenic

Condition: not provided
Hyperkalemic periodic paralysis
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2
Myotonia fluctuans
Potassium-aggravated myotonia

Criteria Provided
Multiple Submitters
No Conflicts

CA117845

rs_80338792

10 SubmittersRCV000153907 RCV000525753 RCV001535772 RCV001799587 RCV002288470

NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile)

SNV
Germline

Chr17:63944708

Pathogenic

Paramyotonia congenita of Von Eulenburg
Condition: not provided
SCN4A-related disorder
Hyperkalemic periodic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

CA117846

rs_121908551

8 SubmittersRCV000006272 RCV000396578 RCV000509130 RCV000654659

NM_000334.4(SCN4A):c.4367G>A (p.Gly1456Glu)

SNV
Germline

Chr17:63941915

Pathogenic

Paramyotonia congenita of Von Eulenburg

No Assertion Criteria Provided

CA117849

rs_121908554

1 SubmittersRCV000006278

NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)

SNV
Germline

Chr17:63943846

Pathogenic

Condition: not provided
Hyperkalemic periodic paralysis
Potassium-aggravated myotonia
Myotonia permanens
6 conditions
Paramyotonia congenita of Von Eulenburg

Criteria Provided
Multiple Submitters
No Conflicts

CA117852

rs_80338792

8 SubmittersRCV000489251 RCV000552020 RCV001823093 RCV001799588 RCV002490328 RCV002225070

NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile)

SNV
Germline

Chr17:63941854

Pathogenic/Likely pathogenic

Paramyotonia congenita of Von Eulenburg
Hyperkalemic periodic paralysis
Condition: not provided
Acetazolamide-responsive myotonia

Criteria Provided
Multiple Submitters
No Conflicts

CA117853

rs_121908559

5 SubmittersRCV000006284 RCV001046179 RCV001781191 RCV003323353

NM_000334.4(SCN4A):c.3891C>A (p.Asn1297Lys)

SNV
Germline

Chr17:63944694

Pathogenic

Paramyotonia congenita/hyperkalemic periodic paralysis
Paramyotonia congenita of Von Eulenburg

Criteria Provided
Single Submitter

CA117854

rs_121908560

2 SubmittersRCV000006285 RCV003996078

NM_000334.4(SCN4A):c.2078T>C (p.Ile693Thr)

SNV
Germline

Chr17:63957460

Pathogenic

Paramyotonia congenita of Von Eulenburg
Hyperkalemic periodic paralysis
Condition: not provided
SCN4A-related non-dystrophic myotonia

Criteria Provided
Multiple Submitters
No Conflicts

CA117855

rs_80338956

5 SubmittersRCV000006286 RCV000020266 RCV000485864 RCV002267605

NM_000334.4(SCN4A):c.421A>G (p.Ile141Val)

SNV
Germline

Chr17:63972197

Pathogenic

Paramyotonia congenita of Von Eulenburg

No Assertion Criteria Provided

CA117856

rs_121908561

1 SubmittersRCV000006287

NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg)

SNV
Germline

Chr17:63940878

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_267604988

4 SubmittersRCV000704360 RCV001127954 RCV001127953 RCV001127955 RCV001127956 RCV002460908 RCV004019085

NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys)

SNV
Germline

Chr17:63945476

Conflicting classifications of pathogenicity

not specified
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA155075

rs_201916531

4 SubmittersRCV000118269 RCV000289506 RCV000390854 RCV000351508 RCV000392527 RCV000811377 RCV003488392

NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln)

SNV
Germline

Chr17:63947100

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 2
Condition: not provided
Hyperkalemic periodic paralysis
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16
Potassium-aggravated myotonia

Criteria Provided
Conflicting Classifications

CA345719

rs_527236149

7 SubmittersRCV000132736 RCV000395392 RCV000547264 RCV000995863 RCV001127055 RCV001127056

NM_000334.4(SCN4A):c.2478C>T (p.Ile826=)

SNV
Germline

Chr17:63951799

Conflicting classifications of pathogenicity

Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
Condition: not provided
Hyperkalemic periodic paralysis
SCN4A-related disorder

Criteria Provided
Conflicting Classifications

CA240235

rs_371914255

5 SubmittersRCV000283764 RCV000308305 RCV000344721 RCV000401155 RCV000724875 RCV001089198 RCV004539619

NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile)

SNV
Germline

Chr17:63941592

Conflicting classifications of pathogenicity

not specified
Potassium-aggravated myotonia
Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg
Condition: not provided
Hyperkalemic periodic paralysis
SCN4A-related disorder

Criteria Provided
Conflicting Classifications

CA205612

rs_202106192

8 SubmittersRCV000192652 RCV000276428 RCV000331539 RCV000356751 RCV000371033 RCV000713115 RCV001083289 RCV004537399

NM_000334.4(SCN4A):c.553G>A (p.Asp185Asn)

SNV
Germline

Chr17:63971780

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA245096

rs_778661227

4 SubmittersRCV000286779 RCV000303252 RCV000399551 RCV000400438 RCV000713125 RCV000812584

NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)

SNV
Germline

Chr17:63968107

Conflicting classifications of pathogenicity

not specified
Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Inborn genetic diseases
Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA8709989

rs_199676994

10 SubmittersRCV000239078 RCV000300244 RCV000303708 RCV000338802 RCV000400595 RCV000624799 RCV000713127 RCV001082389

NM_000334.4(SCN4A):c.4581C>A (p.Ile1527=)

SNV
Germline

Chr17:63941701

Conflicting classifications of pathogenicity

not specified
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Hyperkalemic periodic paralysis
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2

Criteria Provided
Conflicting Classifications

CA8708941

rs_752523459

3 SubmittersRCV000253433 RCV001126270 RCV001126272 RCV001126274 RCV001126271 RCV001126273

NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=)

SNV
Germline

Chr17:63942899

Conflicting classifications of pathogenicity

not specified
Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Potassium-aggravated myotonia
Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA8709038

rs_141215137

6 SubmittersRCV000252947 RCV000297994 RCV000349403 RCV000403429 RCV000406690 RCV000713108 RCV001081683

NM_000334.4(SCN4A):c.4125C>T (p.Asp1375=)

SNV
Germline

Chr17:63942989

Conflicting classifications of pathogenicity

not specified
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Hyperkalemic periodic paralysis
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2

Criteria Provided
Conflicting Classifications

CA8709048

rs_375607705

2 SubmittersRCV000244648 RCV000269326 RCV000277723 RCV000326699 RCV000330459 RCV000388217

NM_000334.4(SCN4A):c.3429C>T (p.Phe1143=)

SNV
Germline

Chr17:63947057

Conflicting classifications of pathogenicity

not specified
Hyperkalemic periodic paralysis
Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Potassium-aggravated myotonia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8709287

rs_373597946

5 SubmittersRCV000247115 RCV000877391 RCV001126658 RCV001126659 RCV001127053 RCV001127054 RCV003422167

NM_000334.4(SCN4A):c.1100+7G>A

SNV
Germline

Chr17:63966474

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Condition: not provided
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis
Congenital myasthenic syndrome 16
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA8709939

rs_200770684

9 SubmittersRCV000243786 RCV000301554 RCV000266497 RCV000355473 RCV000358716 RCV000513381 RCV000576474 RCV001085026

NM_000334.4(SCN4A):c.483-9C>A

SNV
Germline

Chr17:63971859

Conflicting classifications of pathogenicity

Potassium-aggravated myotonia
not specified
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16
Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA8710143

rs_201552497

4 SubmittersRCV000290044 RCV000250421 RCV000380892 RCV000286461 RCV000326290 RCV000713117 RCV000823932

NM_000334.4(SCN4A):c.403A>C (p.Met135Leu)

SNV
Germline

Chr17:63972215

Conflicting classifications of pathogenicity

not specified
Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Condition: not provided
Hyperkalemic periodic paralysis
SCN4A-related disorder

Criteria Provided
Conflicting Classifications

CA8710164

rs_148028364

6 SubmittersRCV000252827 RCV000282590 RCV000297937 RCV000394071 RCV000398536 RCV000513070 RCV001083859 RCV004529423

NM_000334.4(SCN4A):c.*2150C>A

SNV
Germline

Chr17:63938621

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia
Congenital myasthenic syndrome 16

Criteria Provided
Conflicting Classifications

CA10640187

rs_182791237

1 SubmittersRCV000302942 RCV000303993 RCV000342462 RCV000355485 RCV000395408

NM_000334.4(SCN4A):c.*129G>T

SNV
Germline

Chr17:63940642

Conflicting classifications of pathogenicity

Potassium-aggravated myotonia
Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA10640206

rs_140026321

1 SubmittersRCV000289000 RCV000293949 RCV000351216 RCV000346264 RCV000389473

NM_000334.4(SCN4A):c.*86G>T

SNV
Germline

Chr17:63940685

Conflicting classifications of pathogenicity

Potassium-aggravated myotonia
Congenital myasthenic syndrome 16
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg

Criteria Provided
Conflicting Classifications

CA10640210

rs_566876110

1 SubmittersRCV000273794 RCV000299249 RCV000356463 RCV000353404 RCV000390582

NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr)

SNV
Germline

Chr17:63940989

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16
not specified
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA8708788

rs_531694454

3 SubmittersRCV000284690 RCV000279048 RCV000339663 RCV000379267 RCV000517790 RCV000874919

NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg)

SNV
Germline

Chr17:63940998

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA8708790

rs_763493738

2 SubmittersRCV000290622 RCV000345319 RCV000384970 RCV000393903 RCV000813822

NM_000334.4(SCN4A):c.5274C>T (p.His1758=)

SNV
Germline

Chr17:63941008

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 16
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis, type 2
not specified
Hyperkalemic periodic paralysis
SCN4A-related disorder

Criteria Provided
Conflicting Classifications

CA8708795

rs_113418988

4 SubmittersRCV000261928 RCV000311318 RCV000351292 RCV000404024 RCV000504380 RCV000552372 RCV004537816

NM_000334.4(SCN4A):c.2995G>A (p.Val999Met)

SNV
Germline

Chr17:63948760

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis
Condition: not provided
SCN4A-related disorder

Criteria Provided
Conflicting Classifications

CA8709421

rs_377277110

4 SubmittersRCV000270326 RCV000271110 RCV000332377 RCV000362158 RCV000555752 RCV002280115 RCV004537817

NM_000334.4(SCN4A):c.*2169C>G

SNV
Germline

Chr17:63938602

Conflicting classifications of pathogenicity

Potassium-aggravated myotonia
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg

Criteria Provided
Conflicting Classifications

CA10646416

rs_191754378

1 SubmittersRCV000291323 RCV000343978 RCV000349739 RCV000383271 RCV000402544

NM_000334.4(SCN4A):c.*2072G>A

SNV
Germline

Chr17:63938699

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA10646417

rs_192346663

1 SubmittersRCV000263006 RCV000276627 RCV000297055 RCV000334031 RCV000354954

NM_000334.4(SCN4A):c.*1916C>T

SNV
Germline

Chr17:63938855

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA10646423

rs_139537251

1 SubmittersRCV000287406 RCV000340051 RCV000345840 RCV000379487 RCV000404263

NM_000334.4(SCN4A):c.*1324T>C

SNV
Germline

Chr17:63939447

Conflicting classifications of pathogenicity

Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia
Hyperkalemic periodic paralysis
Congenital myasthenic syndrome 16

Criteria Provided
Conflicting Classifications

CA10646430

rs_544883913

1 SubmittersRCV000276172 RCV000307931 RCV000312759 RCV000370722 RCV000394140

NM_000334.4(SCN4A):c.*304G>A

SNV
Germline

Chr17:63940467

Conflicting classifications of pathogenicity

Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Potassium-aggravated myotonia
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA10646438

rs_545908155

1 SubmittersRCV000262443 RCV000316437 RCV000319845 RCV000373418 RCV000385914

NM_000334.4(SCN4A):c.5457C>T (p.Pro1819=)

SNV
Germline

Chr17:63940825

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Hyperkalemic periodic paralysis
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia

Criteria Provided
Conflicting Classifications

CA8708749

rs_761023866

2 SubmittersRCV000278763 RCV000301249 RCV000336430 RCV000404426 RCV000408363

NM_000334.4(SCN4A):c.4886C>T (p.Pro1629Leu)

SNV
Germline

Chr17:63941396

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Potassium-aggravated myotonia
Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8708885

rs_202102815

4 SubmittersRCV000265921 RCV000305878 RCV000336274 RCV000360583 RCV000402814 RCV000654673

NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser)

SNV
Germline

Chr17:63941571

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8708910

rs_772552529

4 SubmittersRCV000286107 RCV000335223 RCV000374780 RCV000408219 RCV000534953 RCV002522999 RCV003137924

NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val)

SNV
Germline

Chr17:63942832

Conflicting classifications of pathogenicity

Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis
Congenital myasthenic syndrome 16
Potassium-aggravated myotonia
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8709023

rs_368822028

5 SubmittersRCV000288438 RCV000292167 RCV000352745 RCV000382835 RCV000388694 RCV003137926 RCV003352836

NM_000334.4(SCN4A):c.3360G>A (p.Ser1120=)

SNV
Germline

Chr17:63947126

Conflicting classifications of pathogenicity

Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA8709297

rs_377187913

2 SubmittersRCV000261415 RCV000264831 RCV000322319 RCV000362052 RCV000654704

NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp)

SNV
Germline

Chr17:63948619

Conflicting classifications of pathogenicity

Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2
Condition: not provided
Hyperkalemic periodic paralysis
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8709386

rs_759982229

6 SubmittersRCV000298316 RCV000301675 RCV000341585 RCV000393109 RCV000766442 RCV000697130 RCV000479192 RCV002523001

NM_000334.4(SCN4A):c.2854-5C>T

SNV
Germline

Chr17:63949533

Conflicting classifications of pathogenicity

Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
not specified
Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8709466

rs_374039266

5 SubmittersRCV000275763 RCV000316895 RCV000311093 RCV000370375 RCV000438809 RCV000526523 RCV001092726

NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser)

SNV
Germline

Chr17:63951654

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 16
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis, type 2
not specified
Condition: not provided
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Hyperkalemic periodic paralysis
SCN4A-related disorder

Criteria Provided
Conflicting Classifications

CA8709542

rs_201148948

8 SubmittersRCV000279770 RCV000299674 RCV000334804 RCV000358171 RCV000489566 RCV000761997 RCV001084946 RCV000576326 RCV004537818

NM_000334.4(SCN4A):c.2563A>G (p.Met855Val)

SNV
Germline

Chr17:63951714

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16
not specified
Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8709564

rs_372019457

5 SubmittersRCV000281591 RCV000336729 RCV000371513 RCV000377274 RCV000518648 RCV000654664 RCV003137928

NM_000334.4(SCN4A):c.2256C>T (p.Leu752=)

SNV
Germline

Chr17:63957282

Conflicting classifications of pathogenicity

Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis
Potassium-aggravated myotonia
Congenital myasthenic syndrome 16

Criteria Provided
Conflicting Classifications

CA8709629

rs_375596512

2 SubmittersRCV000285375 RCV000322288 RCV000344921 RCV000380879 RCV000379780

NM_000334.4(SCN4A):c.1845+7A>C

SNV
Germline

Chr17:63961186

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 16
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2
SCN4A-related disorder

Criteria Provided
Conflicting Classifications

CA8709736

rs_141021600

3 SubmittersRCV000291002 RCV000311010 RCV000345912 RCV000352135 RCV000398737 RCV004544585

NM_000334.4(SCN4A):c.1653C>T (p.Cys551=)

SNV
Germline

Chr17:63961385

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
not specified
Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8709763

rs_201199086

5 SubmittersRCV000264468 RCV000270508 RCV000324372 RCV000378934 RCV000517866 RCV000654684 RCV003409512

NM_000334.4(SCN4A):c.1594G>A (p.Asp532Asn)

SNV
Germline

Chr17:63963684

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16

Criteria Provided
Conflicting Classifications

CA8709798

rs_747479565

1 SubmittersRCV000291355 RCV000325619 RCV000329956 RCV000384873 RCV000386753

NM_000334.4(SCN4A):c.1413G>A (p.Met471Ile)

SNV
Germline

Chr17:63964507

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Congenital myasthenic syndrome 16
Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA8709850

rs_527384137

3 SubmittersRCV000317450 RCV000333024 RCV000374441 RCV000389415 RCV000839298 RCV001080681

NM_000334.4(SCN4A):c.1281C>T (p.Phe427=)

SNV
Germline

Chr17:63964639

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
not specified
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA8709879

rs_369445518

3 SubmittersRCV000260665 RCV000275835 RCV000333499 RCV000353266 RCV000517185 RCV000529325

NM_000334.4(SCN4A):c.1100+15G>A

SNV
Germline

Chr17:63966466

Conflicting classifications of pathogenicity

Potassium-aggravated myotonia
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16

Criteria Provided
Conflicting Classifications

CA8709937

rs_533321924

2 SubmittersRCV000298173 RCV000313546 RCV000352046 RCV000392293 RCV000398957

NM_000334.4(SCN4A):c.-74G>A

SNV
Germline

Chr17:63972915

Conflicting classifications of pathogenicity

Potassium-aggravated myotonia
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg

Criteria Provided
Conflicting Classifications

CA10646463

rs_546675124

1 SubmittersRCV000274454 RCV000289704 RCV000329541 RCV000325814 RCV000384006

NM_000334.4(SCN4A):c.5205G>C (p.Gln1735His)

SNV
Germline

Chr17:63941077

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA8708818

rs_199944673

2 SubmittersRCV000268020 RCV000298506 RCV000323138 RCV000353353 RCV001054673

NM_000334.4(SCN4A):c.4891G>A (p.Ala1631Thr)

SNV
Germline

Chr17:63941391

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Hyperkalemic periodic paralysis
Congenital myasthenic syndrome 16

Criteria Provided
Conflicting Classifications

CA8708881

rs_201115695

1 SubmittersRCV000294885 RCV000300004 RCV000349019 RCV000389100 RCV000407395

NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=)

SNV
Germline

Chr17:63941419

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg
Hyperkalemic periodic paralysis
Potassium-aggravated myotonia
not specified

Criteria Provided
Conflicting Classifications

CA8708892

rs_769625349

3 SubmittersRCV000277970 RCV000293279 RCV000320145 RCV000333010 RCV000387599 RCV000516431

NM_000334.4(SCN4A):c.4709A>G (p.Asn1570Ser)

SNV
Germline

Chr17:63941573

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8708911

rs_531658524

3 SubmittersRCV000310505 RCV000341016 RCV000365211 RCV000406650 RCV000408216 RCV002524435

NM_000334.4(SCN4A):c.4667A>G (p.Asn1556Ser)

SNV
Germline

Chr17:63941615

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg

Criteria Provided
Conflicting Classifications

CA8708921

rs_751454852

2 SubmittersRCV000261866 RCV000286707 RCV000317202 RCV000323034 RCV000371794

NM_000334.4(SCN4A):c.4289-4G>A

SNV
Germline

Chr17:63941997

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg
Hyperkalemic periodic paralysis
Potassium-aggravated myotonia

Criteria Provided
Conflicting Classifications

CA8708999

rs_750364111

2 SubmittersRCV000261012 RCV000301113 RCV000297456 RCV000355938 RCV000361807

NM_000334.4(SCN4A):c.2862G>A (p.Pro954=)

SNV
Germline

Chr17:63949520

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2

Criteria Provided
Conflicting Classifications

CA8709459

rs_375375167

1 SubmittersRCV000303501 RCV000307091 RCV000346621 RCV000364129 RCV000392040

NM_000334.4(SCN4A):c.2592C>T (p.Ala864=)

SNV
Germline

Chr17:63951685

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia
not specified
SCN4A-related disorder

Criteria Provided
Conflicting Classifications

CA8709556

rs_200354336

4 SubmittersRCV000269404 RCV000304604 RCV000329154 RCV000363907 RCV000393740 RCV001660671 RCV004544584

NM_000334.4(SCN4A):c.858G>A (p.Pro286=)

SNV
Germline

Chr17:63968201

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia

Criteria Provided
Conflicting Classifications

CA8710020

rs_560230431

2 SubmittersRCV000275919 RCV000329858 RCV000333300 RCV000371590 RCV000367925

NM_000334.4(SCN4A):c.483-5C>A

SNV
Germline

Chr17:63971855

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Hyperkalemic periodic paralysis
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8710136

rs_191547933

7 SubmittersRCV000274689 RCV000333457 RCV000329820 RCV000384396 RCV000527986 RCV000600116 RCV001697669

NM_000334.4(SCN4A):c.364C>T (p.Arg122Cys)

SNV
Germline

Chr17:63972380

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 16
Hyperkalemic periodic paralysis
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8710196

rs_150158100

5 SubmittersRCV000269546 RCV000309638 RCV000324805 RCV000364205 RCV000379284 RCV001310375

NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met)

SNV
Germline

Chr17:63943062

Conflicting classifications of pathogenicity

Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8709062

rs_545724550

4 SubmittersRCV000279601 RCV000281184 RCV000338105 RCV000371720 RCV000702745 RCV000713105 RCV002523000

NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)

SNV
Germline

Chr17:63961242

Conflicting classifications of pathogenicity

Potassium-aggravated myotonia
Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg
Hyperkalemic periodic paralysis
Condition: not provided
Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Hyperkalemic periodic paralysis
SCN4A-related disorder

Criteria Provided
Conflicting Classifications

CA8709746

rs_187401185

8 SubmittersRCV000263270 RCV000298352 RCV000299745 RCV000391174 RCV001086523 RCV000416101 RCV000576587 RCV004537819

NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr)

SNV
Germline

Chr17:63963816

Conflicting classifications of pathogenicity

Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
not specified
Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA8709830

rs_185941768

5 SubmittersRCV000301623 RCV000358802 RCV000393897 RCV000393899 RCV000486439 RCV000766484 RCV001080027

NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys)

SNV
Germline

Chr17:63966224

Conflicting classifications of pathogenicity

Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Hyperkalemic periodic paralysis
Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8709918

rs_766463226

5 SubmittersRCV000288041 RCV000291434 RCV000345383 RCV000348654 RCV000383669 RCV000945786 RCV001288735

NM_000334.4(SCN4A):c.1011T>C (p.Asp337=)

SNV
Germline

Chr17:63968048

Conflicting classifications of pathogenicity

Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
not specified
Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8709976

rs_372791798

4 SubmittersRCV000270842 RCV000328128 RCV000381655 RCV000385049 RCV000611460 RCV000873888 RCV001718679

NM_000334.4(SCN4A):c.-4G>A

SNV
Germline

Chr17:63972845

Conflicting classifications of pathogenicity

Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis
Potassium-aggravated myotonia
Congenital myasthenic syndrome 16
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8710313

rs_565414568

2 SubmittersRCV000286537 RCV000289842 RCV000344781 RCV000384345 RCV000395817 RCV002254922

NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile)

SNV
Germline

Chr17:63941169

Pathogenic/Likely pathogenic

Hyperkalemic periodic paralysis
Condition: not provided
Paramyotonia congenita of Von Eulenburg

Criteria Provided
Multiple Submitters
No Conflicts

CA16620553

rs_1064794243

5 SubmittersRCV000654650 RCV000484046 RCV002289626

NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr)

SNV
Germline

Chr17:63968041

Conflicting classifications of pathogenicity

Condition: not provided
6 conditions
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia
Microcephaly
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg

Criteria Provided
Conflicting Classifications

CA8709973

rs_147936148

6 SubmittersRCV000492837 RCV000764145 RCV001122194 RCV001122196 RCV001122193 RCV001252850 RCV001122195 RCV001122197

NM_000334.4(SCN4A):c.2890G>A (p.Val964Ile)

SNV
Germline

Chr17:63949492

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16

Criteria Provided
Conflicting Classifications

CA8709453

rs_200947169

4 SubmittersRCV000498111 RCV001079858 RCV001126869 RCV001126870 RCV001126871 RCV001126872

NM_000334.4(SCN4A):c.999C>T (p.Asn333=)

SNV
Germline

Chr17:63968060

Conflicting classifications of pathogenicity

not specified
Hyperkalemic periodic paralysis
Potassium-aggravated myotonia
Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
Condition: not provided
Paramyotonia congenita of Von Eulenburg

Criteria Provided
Conflicting Classifications

CA8709980

rs_149726115

5 SubmittersRCV000516880 RCV000654683 RCV001124976 RCV001124974 RCV001124975 RCV001696979 RCV001124977

NM_000334.4(SCN4A):c.45G>A (p.Glu15=)

SNV
Germline

Chr17:63972797

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Congenital myasthenic syndrome 16
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg

Criteria Provided
Conflicting Classifications

CA8710305

rs_763166498

2 SubmittersRCV000536313 RCV001123697 RCV001126368 RCV001123698 RCV001123699

NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=)

SNV
Germline

Chr17:63941101

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16
Potassium-aggravated myotonia
Condition: not provided
Hypokalemic periodic paralysis, type 2
SCN4A-related disorder

Criteria Provided
Conflicting Classifications

CA8708825

rs_368263333

5 SubmittersRCV000530869 RCV001125080 RCV001126048 RCV001125079 RCV001091886 RCV001125081 RCV004543246

NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser)

SNV
Germline

Chr17:63951573

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
6 conditions
Condition: not provided
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Congenital myasthenic syndrome 16
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8709518

rs_200517944

7 SubmittersRCV000654656 RCV000764142 RCV000992893 RCV001126957 RCV001126959 RCV001126956 RCV001126958 RCV003303080

NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=)

SNV
Germline

Chr17:63941134

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia

Criteria Provided
Conflicting Classifications

CA501348304

rs_1244264430

2 SubmittersRCV000654686 RCV001126050 RCV001126051 RCV001126052 RCV001126049

NM_000334.4(SCN4A):c.2220G>A (p.Pro740=)

SNV
Germline

Chr17:63957318

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Congenital myasthenic syndrome 16
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg

Criteria Provided
Conflicting Classifications

CA8709633

rs_368278422

2 SubmittersRCV000654681 RCV001124588 RCV001124589 RCV001125592 RCV001125593

NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys)

SNV
Germline

Chr17:63964566

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis
Potassium-aggravated myotonia
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis, type 2
Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis
Congenital myasthenic syndrome 16
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_372631097

8 SubmittersRCV001552589 RCV000688828 RCV001127862 RCV001127863 RCV001127864 RCV001127865 RCV001535724 RCV002544829

NM_000334.4(SCN4A):c.219G>A (p.Pro73=)

SNV
Germline

Chr17:63972623

Conflicting classifications of pathogenicity

Condition: not provided
Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Congenital myasthenic syndrome 16

Criteria Provided
Conflicting Classifications

rs_779890709

3 SubmittersRCV000713096 RCV001126276 RCV001126277 RCV001126278 RCV001125304 RCV001126275

NM_000334.4(SCN4A):c.2065C>T (p.Leu689Phe)

SNV
Germline

Chr17:63957473

Likely pathogenic

Condition: not provided
Paramyotonia congenita of Von Eulenburg

Criteria Provided
Single Submitter

rs_80338955

2 SubmittersRCV000761999 RCV001807649

NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr)

SNV
Germline

Chr17:63940881

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg
Hyperkalemic periodic paralysis
Congenital myasthenic syndrome 16
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201192904

5 SubmittersRCV000801375 RCV001124968 RCV001122190 RCV001122191 RCV001122192 RCV001535692 RCV001662830

NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr)

SNV
Germline

Chr17:63941499

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia

Criteria Provided
Conflicting Classifications

rs_761947899

2 SubmittersRCV000801176 RCV001126167 RCV001126168 RCV001128247 RCV001128246

NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met)

SNV
Germline

Chr17:63943066

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia
Condition: not provided
Congenital myasthenic syndrome 16

Criteria Provided
Conflicting Classifications

rs_200274258

4 SubmittersRCV000807569 RCV001122808 RCV001122809 RCV001122806 RCV001288744 RCV001122807

NM_000334.4(SCN4A):c.2778C>T (p.Ile926=)

SNV
Germline

Chr17:63951499

Conflicting classifications of pathogenicity

Condition: not provided
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

rs_769634298

3 SubmittersRCV000833262 RCV001124289 RCV001124290 RCV001123198 RCV001123200 RCV001123199

NM_000334.4(SCN4A):c.4083C>A (p.Ile1361=)

SNV
Germline

Chr17:63943031

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2

Criteria Provided
Conflicting Classifications

rs_374480468

3 SubmittersRCV000876179 RCV001128511 RCV001128513 RCV001128512 RCV001128509 RCV001128510

NM_000334.4(SCN4A):c.2646G>A (p.Pro882=)

SNV
Germline

Chr17:63951631

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16

Criteria Provided
Conflicting Classifications

rs_538173069

2 SubmittersRCV000873090 RCV001127371 RCV001127372 RCV001123303 RCV001123304

NM_000334.4(SCN4A):c.951A>G (p.Ser317=)

SNV
Germline

Chr17:63968108

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16

Criteria Provided
Conflicting Classifications

rs_185246154

2 SubmittersRCV000875882 RCV001128052 RCV001128054 RCV001128051 RCV001128053

NM_000334.4(SCN4A):c.4644C>T (p.Ser1548=)

SNV
Germline

Chr17:63941638

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_751973449

3 SubmittersRCV000945701 RCV001125301 RCV001126267 RCV001126268 RCV001126269 RCV001544731

NM_000334.4(SCN4A):c.52C>T (p.Arg18Cys)

SNV
Germline

Chr17:63972790

Conflicting classifications of pathogenicity

Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Hyperkalemic periodic paralysis
Microcephaly

Criteria Provided
Conflicting Classifications

rs_78592515

3 SubmittersRCV001123693 RCV001123694 RCV001123695 RCV001123696 RCV001123692 RCV001252838

NM_000334.4(SCN4A):c.1995G>T (p.Leu665=)

SNV
Germline

Chr17:63959289

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Potassium-aggravated myotonia

Criteria Provided
Conflicting Classifications

rs_189925781

2 SubmittersRCV000899445 RCV001125594 RCV001125595 RCV001125597 RCV001125596

NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu)

SNV
Germline

Chr17:63941282

Conflicting classifications of pathogenicity

Potassium-aggravated myotonia
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg
Condition: not provided
Congenital myasthenic syndrome 16

Criteria Provided
Conflicting Classifications

rs_765721076

3 SubmittersRCV001126053 RCV001049957 RCV001128147 RCV001128148 RCV000996595 RCV001128146

NM_000334.4(SCN4A):c.*2170G>A

SNV
Germline

Chr17:63938601

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 16
Hyperkalemic periodic paralysis
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2

Criteria Provided
Conflicting Classifications

rs_569759069

1 SubmittersRCV001123024 RCV001123025 RCV001123026 RCV001127051 RCV001127052

NM_000334.4(SCN4A):c.4222C>A (p.Arg1408Ser)

SNV
Germline

Chr17:63942892

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_118047588

4 SubmittersRCV001122705 RCV001122707 RCV001122704 RCV001122706 RCV001122708 RCV002254952

NM_000334.4(SCN4A):c.3062G>A (p.Arg1021His)

SNV
Germline

Chr17:63948693

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

rs_770497876

2 SubmittersRCV001127158 RCV001127160 RCV001127161 RCV001127157 RCV001127159

NM_000334.4(SCN4A):c.3019G>A (p.Val1007Met)

SNV
Germline

Chr17:63948736

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

rs_781028684

2 SubmittersRCV001123102 RCV001123103 RCV001127162 RCV001127163 RCV001127164

NM_000334.4(SCN4A):c.2793C>T (p.Ser931=)

SNV
Germline

Chr17:63951484

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16

Criteria Provided
Conflicting Classifications

rs_201036204

2 SubmittersRCV001123196 RCV001123197 RCV001123193 RCV001123194 RCV001123195

NM_000334.4(SCN4A):c.2593G>C (p.Gly865Arg)

SNV
Germline

Chr17:63951684

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16
Potassium-aggravated myotonia
Hyperkalemic periodic paralysis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_752159625

4 SubmittersRCV001123385 RCV001127501 RCV001127500 RCV001127498 RCV001127499 RCV002261283 RCV003246706

NM_000334.4(SCN4A):c.1575C>T (p.Ser525=)

SNV
Germline

Chr17:63963703

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia
Hyperkalemic periodic paralysis
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376538198

3 SubmittersRCV001125678 RCV001124671 RCV001124672 RCV001124673 RCV001124674 RCV001172115

NM_000334.4(SCN4A):c.1560G>C (p.Pro520=)

SNV
Germline

Chr17:63963718

Conflicting classifications of pathogenicity

Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Hyperkalemic periodic paralysis
Congenital myasthenic syndrome 16

Criteria Provided
Conflicting Classifications

rs_373819078

2 SubmittersRCV001127776 RCV001127778 RCV001127777 RCV001127779 RCV001127780

NM_000334.4(SCN4A):c.354C>T (p.Ser118=)

SNV
Germline

Chr17:63972390

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Congenital myasthenic syndrome 16
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg

Criteria Provided
Conflicting Classifications

rs_753453769

2 SubmittersRCV001122514 RCV001122515 RCV001122513 RCV001125302 RCV001125303

NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)

SNV
Germline

Chr17:63941918

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis
Paramyotonia congenita of Von Eulenburg
6 conditions
Hypokalemic periodic paralysis, type 2

Criteria Provided
Conflicting Classifications

rs_377176361

8 SubmittersRCV001200229 RCV001217902 RCV001564044 RCV002480654 RCV003229884

NM_000334.4(SCN4A):c.2108T>C (p.Leu703Pro)