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.2111C>T (p.Thr704Met)	SNV Germline	Chr17:63957427	Pathogenic/Likely pathogenic	Hyperkalemic periodic paralysis Paramyotonia congenita/hyperkalemic periodic paralysis Condition: not provided 6 conditions Hypokalemic periodic paralysis, type 2 Sotos syndrome SCN4A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA117833	rs_80338957	16 SubmittersRCV000006254 RCV000006255 RCV000255373 RCV000763020 RCV002291266 RCV003231090 RCV004532296
NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)	SNV Germline	Chr17:63941508	Pathogenic	Hyperkalemic periodic paralysis Paramyotonia congenita/hyperkalemic periodic paralysis Condition: not provided 6 conditions 7 conditions Congenital myopathy 22A, classic	Criteria Provided Multiple Submitters No Conflicts	CA117834	rs_80338962	10 SubmittersRCV000006256 RCV000006257 RCV000516497 RCV000763018 RCV005016245 RCV005417418
NM_000334.4(SCN4A):c.4342C>T (p.Arg1448Cys)	SNV Germline	Chr17:63941940	Pathogenic	Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis Condition: not provided Hypokalemic periodic paralysis, type 1 Hypokalemic periodic paralysis, type 2	Criteria Provided Multiple Submitters No Conflicts	CA117835	rs_121908544	9 SubmittersRCV000006258 RCV000206951 RCV000255921 RCV001813736 RCV003989102
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His)	SNV Germline	Chr17:63941939	Pathogenic	Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis Condition: not provided Rhabdomyolysis Delayed gross motor development SCN4A-related non-dystrophic myotonia Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 Potassium-aggravated myotonia SCN4A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA117836	rs_121908545	14 SubmittersRCV000006259 RCV000206992 RCV000517055 RCV000662289 RCV001775065 RCV002267600 RCV002288469 RCV003483425 RCV004734499
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)	SNV Germline	Chr17:63945614	Pathogenic/Likely pathogenic	Paramyotonia congenita/hyperkalemic periodic paralysis Hyperkalemic periodic paralysis Condition: not provided Focal-onset seizure 6 conditions Inborn genetic diseases SCN4A-related disorder Potassium-aggravated myotonia	Criteria Provided Multiple Submitters No Conflicts	CA117837	rs_80338958	13 SubmittersRCV000006260 RCV000020271 RCV000516392 RCV001004616 RCV002496281 RCV003162214 RCV004545720 RCV004595874
NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe)	SNV Germline	Chr17:63951866	Pathogenic/Likely pathogenic	Paramyotonia congenita/myotonia congenita Condition: not provided Myotonia fluctuans Hyperkalemic periodic paralysis	Criteria Provided Multiple Submitters No Conflicts	CA117838	rs_121908546	5 SubmittersRCV000006261 RCV000489309 RCV001799586 RCV003505081
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	9 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 Condition: not provided Hyperkalemic periodic paralysis SCN4A-related non-dystrophic myotonia 7 conditions SCN4A-related disorder Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Congenital myopathy 22A, classic	Criteria Provided Multiple Submitters No Conflicts	CA117840	rs_80338792	15 SubmittersRCV000006265 RCV000006264 RCV000479620 RCV000690377 RCV002267601 RCV005016246 RCV005867727 RCV005428990
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)	SNV Germline	Chr17:63943825	Pathogenic	Paramyotonia congenita of Von Eulenburg Condition: not provided Hyperkalemic periodic paralysis 6 conditions SCN4A-related non-dystrophic myotonia Congenital myasthenic syndrome 16 SCN4A-related disorder SCN4A-related myopathy, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA117841	rs_121908547	13 SubmittersRCV000006266 RCV000414134 RCV000540455 RCV000763019 RCV002267602 RCV003455986 RCV004532297 RCV004786239
NM_000334.4(SCN4A):c.4765G>A (p.Val1589Met)	SNV Germline	Chr17:63941517	Pathogenic	Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Condition: not provided Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2	Criteria Provided Multiple Submitters No Conflicts	CA117842	rs_121908548	8 SubmittersRCV000006267 RCV000006268 RCV000518064 RCV000800365 RCV001849259
NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val)	SNV Germline	Chr17:63945602	Pathogenic	Myotonia congenita, atypical, acetazolamide-responsive Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Multiple Submitters No Conflicts	CA117843	rs_121908549	4 SubmittersRCV000006269 RCV000497702 RCV003505082
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala)	SNV Germline	Chr17:63943846	Pathogenic/Likely pathogenic	Condition: not provided Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Myotonia fluctuans Potassium-aggravated myotonia SCN4A-related channelopathy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA117845	rs_80338792	12 SubmittersRCV000153907 RCV000525753 RCV001535772 RCV001799587 RCV002288470 RCV005249982 RCV005480315
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 Skeletal muscle channelopathy	Criteria Provided Multiple Submitters No Conflicts	CA117846	rs_121908551	9 SubmittersRCV000006272 RCV000396578 RCV000509130 RCV000654659 RCV006250154
NM_000334.4(SCN4A):c.1333G>A (p.Val445Met)	SNV Germline	Chr17:63964587	Pathogenic	Potassium-aggravated myotonia Condition: not provided Hyperkalemic periodic paralysis 6 conditions SCN4A-related non-dystrophic myotonia	Criteria Provided Multiple Submitters No Conflicts	CA117847	rs_121908552	11 SubmittersRCV000006273 RCV000255075 RCV000544236 RCV000763021 RCV002267604
NM_000334.4(SCN4A):c.2006G>A (p.Arg669His)	SNV Germline	Chr17:63959278	Pathogenic	Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA253651	rs_80338784	5 SubmittersRCV000006274 RCV000206926 RCV003482224 RCV005016247
NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)	SNV Germline	Chr17:63959269	Pathogenic	Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis Condition: not provided Acetazolamide-responsive myotonia 6 conditions Paramyotonia congenita of Von Eulenburg 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA253652	rs_80338788	12 SubmittersRCV000006275 RCV000206975 RCV001532353 RCV003387718 RCV002490327 RCV004798719 RCV006605178
NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly)	SNV Germline	Chr17:63959270	Pathogenic	Hypokalemic periodic paralysis, type 2 Hypokalemic periodic paralysis, type 1 Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253653	rs_80338785	5 SubmittersRCV000006276 RCV000020262 RCV000206901 RCV001092728
NM_000334.4(SCN4A):c.2014C>A (p.Arg672Ser)	SNV Germline	Chr17:63959270	Pathogenic/Likely pathogenic	Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis Hypokalemic periodic paralysis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA253654	rs_80338785	6 SubmittersRCV000006279 RCV000206986 RCV003493408 RCV005416317
NM_000334.4(SCN4A):c.3472C>T (p.Pro1158Ser)	SNV Germline	Chr17:63945608	Pathogenic	Hypokalemic periodic paralysis, type 2 Condition: not provided Hyperkalemic periodic paralysis Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA253655	rs_121908555	5 SubmittersRCV000006280 RCV000713100 RCV001210018 RCV002512825
NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly)	SNV Germline	Chr17:63957515	Pathogenic/Likely pathogenic	Normokalemic periodic paralysis, potassium-sensitive Hyperkalemic periodic paralysis Condition: not provided Abnormality of the musculature	Criteria Provided Multiple Submitters No Conflicts	CA117850	rs_121908556	6 SubmittersRCV000006281 RCV000206909 RCV001172114 RCV001813957
NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)	SNV Germline	Chr17:63957514	Pathogenic	Normokalemic periodic paralysis, potassium-sensitive Hyperkalemic periodic paralysis Condition: not provided Myopathy Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA117851	rs_121908557	10 SubmittersRCV000006282 RCV000206996 RCV000516541 RCV000543491 RCV003147276 RCV003335018 RCV005025013
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)	SNV Germline	Chr17:63943846	Pathogenic	Condition: not provided Hyperkalemic periodic paralysis Myotonia permanens Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia 6 conditions SCN4A-related myopathy, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA117852	rs_80338792	11 SubmittersRCV000489251 RCV000552020 RCV001799588 RCV002225070 RCV001823093 RCV002490328 RCV004786240
NM_000334.4(SCN4A):c.4428G>A (p.Met1476Ile)	SNV Germline	Chr17:63941854	Pathogenic/Likely pathogenic	Paramyotonia congenita of Von Eulenburg Condition: not provided Hyperkalemic periodic paralysis Acetazolamide-responsive myotonia	Criteria Provided Multiple Submitters No Conflicts	CA117853	rs_121908559	5 SubmittersRCV000006284 RCV001781191 RCV001046179 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.2014C>T (p.Arg672Cys)	SNV Germline	Chr17:63959270	Pathogenic	Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341668	rs_80338785	5 SubmittersRCV000206949 RCV002307367 RCV003482229
NM_000334.4(SCN4A):c.2065C>A (p.Leu689Ile)	SNV Germline	Chr17:63957473	Pathogenic	Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Single Submitter	CA341669	rs_80338955	2 SubmittersRCV000020265 RCV001092727
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln)	SNV Germline	Chr17:63947091	Pathogenic	Hypokalemic periodic paralysis, type 2 Condition: not provided Hyperkalemic periodic paralysis not specified Skeletal muscle channelopathy	Criteria Provided Multiple Submitters No Conflicts	CA263213	rs_80338789	9 SubmittersRCV000043510 RCV000517960 RCV000692011 RCV001174896 RCV005644489
NM_000334.4(SCN4A):c.4078A>G (p.Met1360Val)	SNV Germline	Chr17:63943036	Pathogenic/Likely pathogenic	Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341671	rs_80338959	2 SubmittersRCV000020272 RCV004998104
NM_000334.4(SCN4A):c.4108A>G (p.Met1370Val)	SNV Germline	Chr17:63943006	Pathogenic/Likely pathogenic	Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341673	rs_80338960	3 SubmittersRCV000020273 RCV000992897
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg)	SNV Germline	Chr17:63940878	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Condition: not provided Inborn genetic diseases 7 conditions	Criteria Provided Conflicting Classifications	CA8708762	rs_267604988	6 SubmittersRCV000704360 RCV001127953 RCV001127954 RCV001127955 RCV001127956 RCV002460908 RCV004019085 RCV005025114
NM_000334.4(SCN4A):c.3774+8G>A	SNV Germline	Chr17:63944999	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA220678	rs_374806849	4 SubmittersRCV000078660 RCV001084899
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys)	SNV Germline	Chr17:63945476	Conflicting classifications of pathogenicity	not specified Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Hyperkalemic periodic paralysis Condition: not provided 7 conditions	Criteria Provided Conflicting Classifications	CA155075	rs_201916531	5 SubmittersRCV000118269 RCV000289506 RCV000351508 RCV000392527 RCV000390854 RCV000811377 RCV003488392 RCV005016403
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)	SNV Germline	Chr17:63971201	Pathogenic/Likely pathogenic	Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis 6 conditions Condition: not provided SCN4A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA345718	rs_527236148	9 SubmittersRCV000132735 RCV000654671 RCV000763022 RCV001508991 RCV004532585
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 7 conditions SCN4A-related channelopathies	Criteria Provided Conflicting Classifications	CA345719	rs_527236149	9 SubmittersRCV000132736 RCV000395392 RCV000547264 RCV000995863 RCV005025220 RCV006555039
NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)	SNV Germline	Chr17:63947082	Pathogenic	Hypokalemic periodic paralysis, type 2 Condition: not provided Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 1 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA345720	rs_527236150	9 SubmittersRCV000132737 RCV000254971 RCV000797599 RCV002305449 RCV005016463
NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys)	SNV Germline	Chr17:63951529	Conflicting classifications of pathogenicity	not specified Condition: not provided Hyperkalemic periodic paralysis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA201120	rs_115379510	7 SubmittersRCV000174672 RCV000710210 RCV001085657 RCV002516640
NM_000334.4(SCN4A):c.2721C>T (p.Leu907=)	SNV Germline	Chr17:63951556	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA240233	rs_376432808	2 SubmittersRCV000174673 RCV001484181
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 Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Condition: not provided Hyperkalemic periodic paralysis SCN4A-related disorder	Criteria Provided Conflicting Classifications	CA205612	rs_202106192	9 SubmittersRCV000192652 RCV000276428 RCV000331539 RCV000371033 RCV000356751 RCV000713115 RCV001083289 RCV004537399
NM_000334.4(SCN4A):c.4434G>A (p.Ser1478=)	SNV Germline	Chr17:63941848	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis not specified	Criteria Provided Conflicting Classifications	CA242396	rs_753725579	3 SubmittersRCV000176454 RCV002056949 RCV004998374
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 7 conditions	Criteria Provided Conflicting Classifications	CA245096	rs_778661227	7 SubmittersRCV000286779 RCV000303252 RCV000399551 RCV000400438 RCV000713125 RCV000812584 RCV005016522
NM_000334.4(SCN4A):c.483-5C>G	SNV Germline	Chr17:63971855	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis SCN4A-related disorder	Criteria Provided Conflicting Classifications	CA245098	rs_191547933	5 SubmittersRCV000724873 RCV001079340 RCV004537458
NM_000334.4(SCN4A):c.4343G>C (p.Arg1448Pro)	SNV Germline	Chr17:63941939	Pathogenic	Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA350900	rs_121908545	3 SubmittersRCV000206910 RCV000518944
NM_000334.4(SCN4A):c.1320T>G (p.Asn440Lys)	SNV Germline	Chr17:63964600	Pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA351017	rs_864622785	1 SubmittersRCV000207008
NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)	SNV Germline	Chr17:63941922	Likely pathogenic	Congenital myasthenic syndrome Hyperkalemic periodic paralysis Congenital myopathy 22A, classic Congenital myasthenic syndrome 16	Criteria Provided Multiple Submitters No Conflicts	CA10584065	rs_879253789	4 SubmittersRCV000235032 RCV001056500 RCV003227471 RCV002512068
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg)	SNV Germline	Chr17:63968107	Conflicting classifications of pathogenicity	not specified Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Inborn genetic diseases Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8709989	rs_199676994	11 SubmittersRCV000239078 RCV000300244 RCV000338802 RCV000400595 RCV000303708 RCV000624799 RCV000713127 RCV001082389
NM_000334.4(SCN4A):c.4581C>A (p.Ile1527=)	SNV Germline	Chr17:63941701	Conflicting classifications of pathogenicity	not specified Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications	CA8708941	rs_752523459	3 SubmittersRCV000253433 RCV001126272 RCV001126274 RCV001126271 RCV001126273 RCV001126270
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 Potassium-aggravated myotonia Congenital myasthenic syndrome 16 Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8709038	rs_141215137	7 SubmittersRCV000252947 RCV000297994 RCV000349403 RCV000406690 RCV000403429 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 Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Condition: not provided	Criteria Provided Conflicting Classifications	CA8709287	rs_373597946	5 SubmittersRCV000247115 RCV000877391 RCV001126659 RCV001127053 RCV001127054 RCV001126658 RCV003422167
NM_000334.4(SCN4A):c.1100+7G>A	SNV Germline	Chr17:63966474	Conflicting classifications of pathogenicity	not specified Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8709939	rs_200770684	10 SubmittersRCV000243786 RCV000266497 RCV000301554 RCV000355473 RCV000358716 RCV000513381 RCV001085026
NM_000334.4(SCN4A):c.703+6G>A	SNV Germline	Chr17:63971156	Conflicting classifications of pathogenicity	not specified Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Conflicting Classifications	CA8710079	rs_748828476	3 SubmittersRCV000247912 RCV003615829 RCV004705077
NM_000334.4(SCN4A):c.483-9C>A	SNV Germline	Chr17:63971859	Conflicting classifications of pathogenicity	not specified Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Conflicting Classifications	CA8710143	rs_201552497	4 SubmittersRCV000250421 RCV000290044 RCV000286461 RCV000326290 RCV000380892 RCV000823932 RCV000713117
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 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Condition: not provided Hyperkalemic periodic paralysis SCN4A-related disorder	Criteria Provided Conflicting Classifications	CA8710164	rs_148028364	6 SubmittersRCV000252827 RCV000282590 RCV000297937 RCV000398536 RCV000394071 RCV000513070 RCV001083859 RCV004529423
NM_000334.4(SCN4A):c.4776G>T (p.Met1592Ile)	SNV Germline	Chr17:63941506	Pathogenic/Likely pathogenic	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Multiple Submitters No Conflicts	CA10603317	rs_886041805	2 SubmittersRCV000319375 RCV005090333
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn)	SNV Germline	Chr17:63948003	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis 7 conditions	Criteria Provided Conflicting Classifications	CA8709348	rs_373150395	4 SubmittersRCV000438769 RCV001058903 RCV005025415
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=)	SNV Germline	Chr17:63940915	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8708771	rs_189230866	4 SubmittersRCV000713123 RCV001088129
NM_000334.4(SCN4A):c.3893T>G (p.Phe1298Cys)	SNV Germline	Chr17:63944692	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA10605700	rs_886043595	4 SubmittersRCV000725970 RCV001362169
NM_000334.4(SCN4A):c.*2150C>A	SNV Germline	Chr17:63938621	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications	CA10640187	rs_182791237	1 SubmittersRCV000302942 RCV000303993 RCV000355485 RCV000342462 RCV000395408
NM_000334.4(SCN4A):c.*129G>T	SNV Germline	Chr17:63940642	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA10640206	rs_140026321	1 SubmittersRCV000293949 RCV000289000 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 Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg	Criteria Provided Conflicting Classifications	CA10640210	rs_566876110	1 SubmittersRCV000273794 RCV000299249 RCV000353404 RCV000356463 RCV000390582
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr)	SNV Germline	Chr17:63940989	Conflicting classifications of pathogenicity	Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 not specified Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8708788	rs_531694454	3 SubmittersRCV000279048 RCV000284690 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 not specified	Criteria Provided Conflicting Classifications	CA8708790	rs_763493738	3 SubmittersRCV000290622 RCV000345319 RCV000384970 RCV000393903 RCV000813822 RCV006268736
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 Limb-girdle muscular dystrophy	Criteria Provided Conflicting Classifications	CA8709421	rs_377277110	5 SubmittersRCV000270326 RCV000271110 RCV000332377 RCV000362158 RCV000555752 RCV002280115 RCV004537817 RCV005625549
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 Condition: not provided Paramyotonia congenita of Von Eulenburg 7 conditions	Criteria Provided Conflicting Classifications	CA8708885	rs_202102815	5 SubmittersRCV000265921 RCV000305878 RCV000336274 RCV000360583 RCV000654673 RCV000402814 RCV005016716
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 7 conditions not specified	Criteria Provided Conflicting Classifications	CA8708910	rs_772552529	6 SubmittersRCV000286107 RCV000335223 RCV000374780 RCV000408219 RCV000534953 RCV002522999 RCV003137924 RCV005025452 RCV005055881
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA8709297	rs_377187913	3 SubmittersRCV000261415 RCV000264831 RCV000322319 RCV000362052 RCV000654704 RCV006441874
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 not specified Hyperkalemic periodic paralysis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8709386	rs_759982229	7 SubmittersRCV000298316 RCV000301675 RCV000341585 RCV000393109 RCV000479192 RCV000697130 RCV000766442 RCV002523001
NM_000334.4(SCN4A):c.2854-5C>T	SNV Germline	Chr17:63949533	Conflicting classifications of pathogenicity	Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Congenital myasthenic syndrome 16 not specified Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Conflicting Classifications	CA8709466	rs_374039266	6 SubmittersRCV000275763 RCV000311093 RCV000316895 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 SCN4A-related disorder	Criteria Provided Conflicting Classifications	CA8709542	rs_201148948	10 SubmittersRCV000279770 RCV000299674 RCV000334804 RCV000358171 RCV000489566 RCV000761997 RCV001084946 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 Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg not specified Hyperkalemic periodic paralysis Condition: not provided 7 conditions SCN4A-related disorder	Criteria Provided Conflicting Classifications	CA8709564	rs_372019457	8 SubmittersRCV000281591 RCV000336729 RCV000377274 RCV000371513 RCV000518648 RCV000654664 RCV003137928 RCV005025453 RCV004734977
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	2 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 not specified	Criteria Provided Conflicting Classifications	CA8709850	rs_527384137	4 SubmittersRCV000317450 RCV000333024 RCV000374441 RCV000389415 RCV000839298 RCV001080681 RCV006441875
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 Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg	Criteria Provided Conflicting Classifications	CA10646463	rs_546675124	1 SubmittersRCV000274454 RCV000289704 RCV000325814 RCV000329541 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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8708818	rs_199944673	3 SubmittersRCV000268020 RCV000298506 RCV000323138 RCV000353353 RCV001054673 RCV006362274
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	2 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 Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA8708911	rs_531658524	4 SubmittersRCV000310505 RCV000341016 RCV000365211 RCV000408216 RCV000406650 RCV002524435 RCV004772897
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA8708921	rs_751454852	3 SubmittersRCV000261866 RCV000286707 RCV000317202 RCV000323034 RCV000371794 RCV006436744
NM_000334.4(SCN4A):c.4289-4G>A	SNV Germline	Chr17:63941997	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8708999	rs_750364111	2 SubmittersRCV000261012 RCV000297456 RCV000301113 RCV000361807 RCV000355938
NM_000334.4(SCN4A):c.2862G>A (p.Pro954=)	SNV Germline	Chr17:63949520	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 16 Hyperkalemic periodic paralysis Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2	Criteria Provided Conflicting Classifications	CA8709459	rs_375375167	2 SubmittersRCV000307091 RCV000303501 RCV000364129 RCV000346621 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 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg	Criteria Provided Conflicting Classifications	CA8710020	rs_560230431	2 SubmittersRCV000275919 RCV000329858 RCV000333300 RCV000367925 RCV000371590
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	8 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 Potassium-aggravated myotonia Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Condition: not provided 7 conditions	Criteria Provided Conflicting Classifications	CA8710196	rs_150158100	6 SubmittersRCV000269546 RCV000324805 RCV000309638 RCV000364205 RCV000379284 RCV001310375 RCV005025454
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	5 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 Condition: not provided Hyperkalemic periodic paralysis SCN4A-related disorder not specified	Criteria Provided Conflicting Classifications	CA8709746	rs_187401185	9 SubmittersRCV000263270 RCV000298352 RCV000299745 RCV000391174 RCV000416101 RCV001086523 RCV004537819 RCV004999317
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	Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8709918	rs_766463226	5 SubmittersRCV000291434 RCV000288041 RCV000348654 RCV000345383 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	5 SubmittersRCV000270842 RCV000328128 RCV000381655 RCV000385049 RCV000611460 RCV000873888 RCV001718679
NM_000334.4(SCN4A):c.-4G>A	SNV Germline	Chr17:63972845	Conflicting classifications of pathogenicity	Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis Potassium-aggravated myotonia Congenital myasthenic syndrome 16 Condition: not provided	Criteria Provided Conflicting Classifications	CA8710313	rs_565414568	3 SubmittersRCV000289842 RCV000286537 RCV000344781 RCV000384345 RCV000395817 RCV002254922
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr)	SNV Germline	Chr17:63957443	Conflicting classifications of pathogenicity	Myotonia Handgrip myotonia Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Conflicting Classifications	CA16043536	rs_1057518865	6 SubmittersRCV000414860 RCV001070785 RCV001566689
NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu)	SNV Unknown	Chr17:63964587	Conflicting classifications of pathogenicity	Myotonia Muscle weakness Batten-Turner congenital myopathy Pain EMG: myotonic discharges Distal sensory impairment Muscle weakness Limb pain Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA16043537	rs_121908552	1 SubmittersRCV000414792 RCV000415234 RCV000626662 RCV001197414
NM_000334.4(SCN4A):c.3688G>A (p.Val1230Met)	SNV Germline	Chr17:63945392	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8709207	rs_778820577	3 SubmittersRCV000418825 RCV000528478
NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val)	SNV Germline	Chr17:63951891	Pathogenic/Likely pathogenic	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Multiple Submitters No Conflicts	CA16607432	rs_750053946	3 SubmittersRCV000435175 RCV000821671
NM_000334.4(SCN4A):c.749T>C (p.Leu250Pro)	SNV Germline	Chr17:63968310	Pathogenic/Likely pathogenic	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Multiple Submitters No Conflicts	CA16607433	rs_1057521065	2 SubmittersRCV000439261 RCV001861506
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile)	SNV Germline	Chr17:63941169	Pathogenic/Likely pathogenic	Condition: not provided Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg	Criteria Provided Multiple Submitters No Conflicts	CA16620553	rs_1064794243	6 SubmittersRCV000484046 RCV000654650 RCV002289626
NM_000334.4(SCN4A):c.4427T>C (p.Met1476Thr)	SNV Germline	Chr17:63941855	Pathogenic/Likely pathogenic	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Multiple Submitters No Conflicts	CA16620554	rs_1064795409	4 SubmittersRCV000484396 RCV001061560
NM_000334.4(SCN4A):c.3774+20A>G	SNV Germline	Chr17:63944987	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis 7 conditions	Criteria Provided Conflicting Classifications	CA8709163	rs_377552760	3 SubmittersRCV000480061 RCV002056808 RCV005018817
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile)	SNV Germline	Chr17:63941506	Pathogenic/Likely pathogenic	Condition: not provided 6 conditions Hyperkalemic periodic paralysis	Criteria Provided Multiple Submitters No Conflicts	CA400615002	rs_886041805	3 SubmittersRCV000489768 RCV000763017 RCV001856911
NM_000334.4(SCN4A):c.1520A>G (p.Asn507Ser)	SNV Germline	Chr17:63963758	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis not specified 7 conditions	Criteria Provided Conflicting Classifications	CA8709823	rs_201793080	5 SubmittersRCV000493097 RCV000700005 RCV004999539 RCV005004192
NM_000334.4(SCN4A):c.1018G>A (p.Ala340Thr)	SNV Germline	Chr17:63968041	Conflicting classifications of pathogenicity	Condition: not provided 6 conditions Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Microcephaly	Criteria Provided Conflicting Classifications	CA8709973	rs_147936148	6 SubmittersRCV000492837 RCV000764145 RCV001122195 RCV001122197 RCV001122193 RCV001122194 RCV001122196 RCV001252850
NM_000334.4(SCN4A):c.1000G>A (p.Asp334Asn)	SNV Germline	Chr17:63968059	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided 7 conditions	Criteria Provided Conflicting Classifications	CA8709979	rs_766055241	4 SubmittersRCV001036702 RCV001696819 RCV005018829
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 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA8709453	rs_200947169	6 SubmittersRCV000498111 RCV001079858 RCV001126869 RCV001126870 RCV001126871 RCV001126872 RCV004955543 RCV006438102
NM_000334.4(SCN4A):c.644T>C (p.Ile215Thr)	SNV Germline	Chr17:63971221	Conflicting classifications of pathogenicity	not specified Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA400638301	rs_1555604867	5 SubmittersRCV000498780 RCV000512650 RCV001237631
NM_000334.4(SCN4A):c.4288+6C>T	SNV Germline	Chr17:63942820	Conflicting classifications of pathogenicity	not specified Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Conflicting Classifications	CA8709022	rs_148187651	3 SubmittersRCV000502756 RCV001312921 RCV001591142
NM_000334.4(SCN4A):c.4218C>G (p.Ala1406=)	SNV Germline	Chr17:63942896	Conflicting classifications of pathogenicity	not specified Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8709036	rs_770836153	2 SubmittersRCV000501785 RCV002524292
NM_000334.4(SCN4A):c.52C>A (p.Arg18Ser)	SNV Germline	Chr17:63972790	Conflicting classifications of pathogenicity	not specified Hyperkalemic periodic paralysis Condition: not provided 6 conditions	Criteria Provided Conflicting Classifications	CA8710300	rs_78592515	8 SubmittersRCV000499480 RCV000545405 RCV001584220 RCV002490841
NM_000334.4(SCN4A):c.4364T>G (p.Ile1455Ser)	SNV Germline	Chr17:63941918	Conflicting classifications of pathogenicity	not specified Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA400616157	rs_377176361	2 SubmittersRCV000516219 RCV006463222
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His)	SNV Germline	Chr17:63941930	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis SCN4A-related non-dystrophic myotonia Hypokalemic periodic paralysis, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA292957365	rs_748517635	5 SubmittersRCV000532008 RCV002267617 RCV002305499 RCV002473036
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu)	SNV Germline	Chr17:63945607	Likely pathogenic	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Multiple Submitters No Conflicts	CA400618699	rs_1555601448	2 SubmittersRCV000518217 RCV000545880
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu)	SNV Germline	Chr17:63964587	Pathogenic/Likely pathogenic	Condition: not provided Hyperkalemic periodic paralysis SCN4A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA400635022	rs_121908552	5 SubmittersRCV000516348 RCV000559054 RCV004527624
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 Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA8709980	rs_149726115	5 SubmittersRCV000516880 RCV000654683 RCV001124976 RCV001124977 RCV001124974 RCV001124975 RCV001696979
NM_000334.4(SCN4A):c.3001C>T (p.Arg1001Cys)	SNV Germline	Chr17:63948754	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Conflicting Classifications	CA8709419	rs_199713025	3 SubmittersRCV000524957 RCV001696982
NM_000334.4(SCN4A):c.2188G>A (p.Val730Met)	SNV Germline	Chr17:63957350	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided SCN4A-related disorder	Criteria Provided Conflicting Classifications	CA8709641	rs_113462659	5 SubmittersRCV000528925 RCV001559485 RCV004530585
NM_000334.4(SCN4A):c.154C>T (p.Arg52Trp)	SNV Germline	Chr17:63972688	Conflicting classifications of pathogenicity	not specified Congenital myasthenic syndrome 16 Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8710269	rs_201379704	4 SubmittersRCV000607192 RCV000680091 RCV001080406
NM_000334.4(SCN4A):c.3058C>G (p.Leu1020Val)	SNV Germline	Chr17:63948697	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided Inborn genetic diseases 7 conditions	Criteria Provided Conflicting Classifications	CA8709403	rs_371779795	4 SubmittersRCV000554442 RCV003139863 RCV004024399 RCV005004247
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn)	SNV Germline	Chr17:63951483	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Inborn genetic diseases Congenital myasthenic syndrome 16 7 conditions	Criteria Provided Conflicting Classifications	CA8709499	rs_199656266	4 SubmittersRCV000538078 RCV001267294 RCV001335257 RCV005027661
NM_000334.4(SCN4A):c.2200G>T (p.Ala734Ser)	SNV Germline	Chr17:63957338	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8709637	rs_199651516	5 SubmittersRCV000539082 RCV001548373 RCV002526745
NM_000334.4(SCN4A):c.45G>A (p.Glu15=)	SNV Germline	Chr17:63972797	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg not specified	Criteria Provided Conflicting Classifications	CA8710305	rs_763166498	3 SubmittersRCV000536313 RCV001123698 RCV001123697 RCV001126368 RCV001123699 RCV005000223
NM_000334.4(SCN4A):c.5181G>A (p.Glu1727=)	SNV Germline	Chr17:63941101	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 SCN4A-related disorder	Criteria Provided Conflicting Classifications	CA8708825	rs_368263333	6 SubmittersRCV000530869 RCV001091886 RCV001125079 RCV001125081 RCV001125080 RCV001126048 RCV004543246
NM_000334.4(SCN4A):c.3425G>A (p.Arg1142Gln)	SNV Germline	Chr17:63947061	Pathogenic/Likely pathogenic	Hyperkalemic periodic paralysis Congenital myopathy 22A, classic Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8709288	rs_780703403	3 SubmittersRCV000557400 RCV003227493 RCV004820047
NM_000334.4(SCN4A):c.4378C>T (p.Arg1460Trp)	SNV Germline	Chr17:63941904	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided SCN4A-related disorder	Criteria Provided Conflicting Classifications	CA8708979	rs_368256039	4 SubmittersRCV000543330 RCV001551793 RCV004530586
NM_000334.4(SCN4A):c.1576G>A (p.Gly526Arg)	SNV Germline	Chr17:63963702	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8709806	rs_181292216	4 SubmittersRCV000558352 RCV001785663 RCV004659116
NM_000334.4(SCN4A):c.2292G>A (p.Glu764=)	SNV Germline	Chr17:63957246	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA501225306	rs_1555603112	2 SubmittersRCV000591056 RCV003615848
NM_000334.4(SCN4A):c.5468C>G (p.Pro1823Arg)	SNV Germline	Chr17:63940814	Conflicting classifications of pathogenicity	not specified Hyperkalemic periodic paralysis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8708743	rs_376833596	5 SubmittersRCV000602775 RCV001079138 RCV000876059 RCV002528600
NM_000334.4(SCN4A):c.4360C>A (p.Arg1454=)	SNV Germline	Chr17:63941922	Conflicting classifications of pathogenicity	not specified Hyperkalemic periodic paralysis 7 conditions	Criteria Provided Conflicting Classifications	CA501348524	rs_879253789	3 SubmittersRCV000601532 RCV001868091 RCV005019033
NM_000334.4(SCN4A):c.2861C>T (p.Pro954Leu)	SNV Germline	Chr17:63949521	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided SCN4A-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8709460	rs_201367621	5 SubmittersRCV001222363 RCV001707788 RCV004530787 RCV004669056
NM_000334.4(SCN4A):c.3441+4G>A	SNV Germline	Chr17:63947041	Conflicting classifications of pathogenicity	not specified Hyperkalemic periodic paralysis 7 conditions	Criteria Provided Conflicting Classifications	CA8709282	rs_765176007	3 SubmittersRCV000615391 RCV001361857 RCV005019032
NM_000334.4(SCN4A):c.4416G>A (p.Leu1472=)	SNV Germline	Chr17:63941866	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis 6 conditions Condition: not provided	Criteria Provided Conflicting Classifications	CA8708966	rs_758113478	3 SubmittersRCV000654672 RCV002477460 RCV003140045
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 Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 Inborn genetic diseases 7 conditions	Criteria Provided Conflicting Classifications	CA8709518	rs_200517944	8 SubmittersRCV000654656 RCV000764142 RCV000992893 RCV001126956 RCV001126957 RCV001126959 RCV001126958 RCV003303080 RCV005019089
NM_000334.4(SCN4A):c.5148G>A (p.Glu1716=)	SNV Germline	Chr17:63941134	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Potassium-aggravated myotonia Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2	Criteria Provided Conflicting Classifications	CA501348304	rs_1244264430	2 SubmittersRCV000654686 RCV001126049 RCV001126050 RCV001126051 RCV001126052
NM_000334.4(SCN4A):c.1585G>T (p.Gly529Cys)	SNV Germline	Chr17:63963693	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided Inborn genetic diseases 7 conditions	Criteria Provided Conflicting Classifications	CA8709800	rs_143457794	5 SubmittersRCV000654668 RCV001572484 RCV005732155 RCV005004313
NM_000334.4(SCN4A):c.5104G>A (p.Glu1702Lys)	SNV Germline	Chr17:63941178	Pathogenic/Likely pathogenic	Hyperkalemic periodic paralysis Condition: not provided 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA400614067	rs_1555600605	4 SubmittersRCV000654653 RCV000713121 RCV005019088
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.393-1C>T	SNV Germline	Chr17:63972226	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis 6 conditions Condition: not provided	Criteria Provided Conflicting Classifications	CA400639785	rs_1199378574	3 SubmittersRCV000654657 RCV002477458 RCV003140044
NM_000334.4(SCN4A):c.4442C>A (p.Ala1481Asp)	SNV Germline	Chr17:63941840	Pathogenic	Hyperkalemic periodic paralysis SCN4A-related non-dystrophic myotonia	Criteria Provided Single Submitter	CA400616016	rs_763893717	2 SubmittersRCV000698645 RCV002267623
NM_000334.4(SCN4A):c.4300T>C (p.Ser1434Pro)	SNV Germline	Chr17:63941982	Pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400616279	rs_1567816549	1 SubmittersRCV000685540
NM_000334.4(SCN4A):c.1354G>A (p.Glu452Lys)	SNV Germline	Chr17:63964566	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16 Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Condition: not provided Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Inborn genetic diseases not specified 7 conditions	Criteria Provided Conflicting Classifications	CA8709861	rs_372631097	10 SubmittersRCV000688828 RCV001127863 RCV001127864 RCV001127865 RCV001127862 RCV001552589 RCV001535724 RCV002544829 RCV004689855 RCV005021058
NM_000334.4(SCN4A):c.46T>A (p.Cys16Ser)	SNV Germline	Chr17:63972796	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis 6 conditions	Criteria Provided Conflicting Classifications	CA8710304	rs_773541890	2 SubmittersRCV000695117 RCV002493197
NM_000334.4(SCN4A):c.5291A>G (p.Asp1764Gly)	SNV Germline	Chr17:63940991	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA400612988	rs_1567815771	3 SubmittersRCV000706479 RCV003141706 RCV004965709
NM_000334.4(SCN4A):c.4388G>T (p.Arg1463Leu)	SNV Germline	Chr17:63941894	Likely pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA292957285	rs_771340029	1 SubmittersRCV000692303
NM_000334.4(SCN4A):c.3929T>A (p.Ile1310Asn)	SNV Germline	Chr17:63943834	Pathogenic/Likely pathogenic	Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA400617144	rs_1567817380	2 SubmittersRCV000699036 RCV002473118
NM_000334.4(SCN4A):c.5366C>T (p.Ser1789Leu)	SNV Germline	Chr17:63940916	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided 7 conditions	Criteria Provided Conflicting Classifications	CA8708772	rs_201414160	5 SubmittersRCV000690005 RCV000728436 RCV005004368
NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys)	SNV Germline	Chr17:63942892	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis 6 conditions Condition: not provided 7 conditions	Criteria Provided Conflicting Classifications	CA8709034	rs_118047588	5 SubmittersRCV000688248 RCV000764140 RCV001508990 RCV005021057
NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg)	SNV Germline	Chr17:63948751	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis 7 conditions Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8709417	rs_544082594	4 SubmittersRCV000702856 RCV005004379 RCV004588146 RCV004997204
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr)	SNV Germline	Chr17:63951858	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided Inborn genetic diseases 7 conditions Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2	Criteria Provided Conflicting Classifications	CA8709586	rs_770694096	6 SubmittersRCV000694016 RCV000992891 RCV003303139 RCV005021070 RCV005409721
NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu)	SNV Germline	Chr17:63941333	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis 7 conditions	Criteria Provided Conflicting Classifications	CA8708869	rs_774183791	5 SubmittersRCV000713119 RCV001224260 RCV005004385
NM_000334.4(SCN4A):c.4426A>G (p.Met1476Val)	SNV Germline	Chr17:63941856	Pathogenic/Likely pathogenic	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Multiple Submitters No Conflicts	CA400616050	rs_1567816461	2 SubmittersRCV000713114 RCV001048956
NM_000334.4(SCN4A):c.4372G>T (p.Val1458Phe)	SNV Germline	Chr17:63941910	Pathogenic/Likely pathogenic	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Multiple Submitters No Conflicts	CA400616143	rs_1199222144	3 SubmittersRCV000713110 RCV000804436
NM_000334.4(SCN4A):c.4343G>T (p.Arg1448Leu)	SNV Germline	Chr17:63941939	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA400616189	rs_121908545	3 SubmittersRCV000713109 RCV002532949
NM_000334.4(SCN4A):c.2150T>C (p.Val717Ala)	SNV Germline	Chr17:63957388	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA400630954	rs_1567823095	3 SubmittersRCV000713095 RCV001346721
NM_000334.4(SCN4A):c.1902C>T (p.Pro634=)	SNV Germline	Chr17:63959382	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8709710	rs_368811155	3 SubmittersRCV000713091 RCV001087626
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 Congenital myasthenic syndrome 16 Potassium-aggravated myotonia	Criteria Provided Conflicting Classifications	CA8710252	rs_779890709	3 SubmittersRCV000713096 RCV001126276 RCV001126277 RCV001126278 RCV001126275 RCV001125304
NM_000334.4(SCN4A):c.211C>T (p.Pro71Ser)	SNV Germline	Chr17:63972631	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis 7 conditions	Criteria Provided Conflicting Classifications	CA8710256	rs_187055074	4 SubmittersRCV000713094 RCV000808350 RCV005021114
NM_000334.4(SCN4A):c.4783G>T (p.Ala1595Ser)	SNV Germline	Chr17:63941499	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA400614985	rs_761947899	2 SubmittersRCV000761996 RCV005092196
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 Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16 Condition: not provided 7 conditions	Criteria Provided Conflicting Classifications	CA8708764	rs_201192904	6 SubmittersRCV000801375 RCV001124968 RCV001122190 RCV001122191 RCV001122192 RCV001535692 RCV001662830 RCV005029473
NM_000334.4(SCN4A):c.4916G>A (p.Arg1639His)	SNV Germline	Chr17:63941366	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided 6 conditions not specified	Criteria Provided Conflicting Classifications	CA8708874	rs_368186423	4 SubmittersRCV000817315 RCV003141840 RCV002487806 RCV004997377
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 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg	Criteria Provided Conflicting Classifications	CA8708901	rs_761947899	2 SubmittersRCV000801176 RCV001126167 RCV001126168 RCV001128246 RCV001128247
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr)	SNV Germline	Chr17:63941798	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA400615926	rs_1318966106	5 SubmittersRCV000809929 RCV001664430 RCV005432440
NM_000334.4(SCN4A):c.4388G>A (p.Arg1463His)	SNV Germline	Chr17:63941894	Pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA8708975	rs_771340029	1 SubmittersRCV000795668
NM_000334.4(SCN4A):c.4387C>A (p.Arg1463Ser)	SNV Germline	Chr17:63941895	Likely pathogenic	Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA8708976	rs_774453167	2 SubmittersRCV000810571 RCV001568013
NM_000334.4(SCN4A):c.4307T>C (p.Leu1436Pro)	SNV Germline	Chr17:63941975	Pathogenic	Hyperkalemic periodic paralysis Condition: not provided SCN4A-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA400616264	rs_1598405334	5 SubmittersRCV000819512 RCV000992899 RCV004545804
NM_000334.4(SCN4A):c.4201G>A (p.Val1401Met)	SNV Germline	Chr17:63942913	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg Condition: not provided	Criteria Provided Conflicting Classifications	CA8709040	rs_572380012	4 SubmittersRCV000811262 RCV003338817 RCV003141822
NM_000334.4(SCN4A):c.4116G>A (p.Val1372=)	SNV Germline	Chr17:63942998	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis 7 conditions	Criteria Provided Conflicting Classifications	CA8709049	rs_755256694	2 SubmittersRCV000818996 RCV005021247
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met)	SNV Germline	Chr17:63943066	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Condition: not provided 7 conditions	Criteria Provided Conflicting Classifications	CA8709063	rs_200274258	6 SubmittersRCV000807569 RCV001122807 RCV001122806 RCV001122808 RCV001122809 RCV001288744 RCV005029487
NM_000334.4(SCN4A):c.808C>A (p.Gln270Lys)	SNV Germline	Chr17:63968251	Pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400637663	rs_1597985462	1 SubmittersRCV000813734
NM_000334.4(SCN4A):c.55C>G (p.Pro19Ala)	SNV Germline	Chr17:63972787	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Inborn genetic diseases 7 conditions	Criteria Provided Conflicting Classifications	CA8710297	rs_772628295	3 SubmittersRCV000818834 RCV004028992 RCV005029508
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 Hyperkalemic periodic paralysis Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2	Criteria Provided Conflicting Classifications	CA8709503	rs_769634298	3 SubmittersRCV000833262 RCV001124289 RCV001124290 RCV001123199 RCV001123198 RCV001123200
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 Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg	Criteria Provided Conflicting Classifications	CA8709054	rs_374480468	3 SubmittersRCV000876179 RCV001128511 RCV001128513 RCV001128509 RCV001128510 RCV001128512
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	CA8709537	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 Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia	Criteria Provided Conflicting Classifications	CA8709991	rs_185246154	2 SubmittersRCV000875882 RCV001128051 RCV001128053 RCV001128052 RCV001128054
NM_000334.4(SCN4A):c.1846-6C>A	SNV Germline	Chr17:63959444	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Conflicting Classifications	CA8709720	rs_190853310	2 SubmittersRCV000873525 RCV001731962
NM_000334.4(SCN4A):c.483-5C>T	SNV Germline	Chr17:63971855	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8710137	rs_191547933	3 SubmittersRCV000876671 RCV003141885 RCV003987734
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	CA8708926	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	CA8710301	rs_78592515	3 SubmittersRCV001123693 RCV001123694 RCV001123695 RCV001123696 RCV001123692 RCV001252838
NM_000334.4(SCN4A):c.235C>T (p.Pro79Ser)	SNV Germline	Chr17:63972607	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided 7 conditions	Criteria Provided Conflicting Classifications	CA8710248	rs_376505442	5 SubmittersRCV000964702 RCV001564401 RCV005029542
NM_000334.4(SCN4A):c.2797C>G (p.Leu933Val)	SNV Germline	Chr17:63951480	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA8709498	rs_757508857	3 SubmittersRCV000887601 RCV002539367 RCV003141889
NM_000334.4(SCN4A):c.1995G>T (p.Leu665=)	SNV Germline	Chr17:63959289	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Potassium-aggravated myotonia Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications	CA8709693	rs_189925781	2 SubmittersRCV000899445 RCV001125596 RCV001125594 RCV001125595 RCV001125597
NM_000334.4(SCN4A):c.5000C>T (p.Pro1667Leu)	SNV Germline	Chr17:63941282	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 Potassium-aggravated myotonia 7 conditions	Criteria Provided Conflicting Classifications	CA8708860	rs_765721076	4 SubmittersRCV000996595 RCV001049957 RCV001128147 RCV001128148 RCV001128146 RCV001126053 RCV005029551
NM_000334.4(SCN4A):c.1201C>T (p.Arg401Cys)	SNV Germline	Chr17:63966143	Conflicting classifications of pathogenicity	Congenital myasthenic syndrome 16 Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Conflicting Classifications	CA400635976	rs_1188070167	3 SubmittersRCV000995864 RCV002549921 RCV003332276
NM_000334.4(SCN4A):c.4109T>C (p.Met1370Thr)	SNV Germline	Chr17:63943005	Likely pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400616722	rs_1908593639	1 SubmittersRCV001053370
NM_000334.4(SCN4A):c.3615C>G (p.Asn1205Lys)	SNV Germline	Chr17:63945465	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Congenital myopathy 22A, classic Congenital myasthenic syndrome 16 Condition: not provided	Criteria Provided Conflicting Classifications	CA400617905	rs_1181083611	4 SubmittersRCV001065707 RCV003227512 RCV002512136 RCV004792710
NM_000334.4(SCN4A):c.2005C>T (p.Arg669Cys)	SNV Germline	Chr17:63959279	Likely pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA292966944	rs_897448432	1 SubmittersRCV001046074
NM_000334.4(SCN4A):c.715A>G (p.Ile239Val)	SNV Germline	Chr17:63968344	Likely pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400637904	rs_1909519361	1 SubmittersRCV001056914
NM_000334.4(SCN4A):c.436G>A (p.Val146Ile)	SNV Germline	Chr17:63972182	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis 6 conditions Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8710160	rs_367988986	5 SubmittersRCV001046562 RCV002481925 RCV002508282 RCV002553146
NM_000334.4(SCN4A):c.*2170G>A	SNV Germline	Chr17:63938601	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg Congenital myasthenic syndrome 16 Potassium-aggravated myotonia Hypokalemic periodic paralysis, type 2	Criteria Provided Conflicting Classifications	CA292954672	rs_569759069	1 SubmittersRCV001123025 RCV001123026 RCV001123024 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 SCN4A-related disorder 7 conditions	Criteria Provided Conflicting Classifications	CA8709035	rs_118047588	6 SubmittersRCV001122705 RCV001122707 RCV001122704 RCV001122706 RCV001122708 RCV002254952 RCV004734022 RCV005021462
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 Potassium-aggravated myotonia Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg	Criteria Provided Conflicting Classifications	CA8709401	rs_770497876	2 SubmittersRCV001127158 RCV001127160 RCV001127157 RCV001127159 RCV001127161
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 7 conditions Condition: not provided	Criteria Provided Conflicting Classifications	CA8709413	rs_781028684	4 SubmittersRCV001123102 RCV001123103 RCV001127162 RCV001127163 RCV001127164 RCV005021463 RCV005633897
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	CA8709500	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	Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg Potassium-aggravated myotonia Hyperkalemic periodic paralysis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8709555	rs_752159625	4 SubmittersRCV001127500 RCV001123385 RCV001127501 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	CA8709807	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	Paramyotonia congenita of Von Eulenburg Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2 Potassium-aggravated myotonia Congenital myasthenic syndrome 16	Criteria Provided Conflicting Classifications	CA501225906	rs_373819078	2 SubmittersRCV001127777 RCV001127779 RCV001127776 RCV001127778 RCV001127780
NM_000334.4(SCN4A):c.354C>T (p.Ser118=)	SNV Germline	Chr17:63972390	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Potassium-aggravated myotonia Congenital myasthenic syndrome 16 Hypokalemic periodic paralysis, type 2 Paramyotonia congenita of Von Eulenburg	Criteria Provided Conflicting Classifications	CA8710198	rs_753453769	2 SubmittersRCV001122514 RCV001122513 RCV001122515 RCV001125302 RCV001125303
NM_000334.4(SCN4A):c.2012T>G (p.Phe671Cys)	SNV Unknown	Chr17:63959272	Likely pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA8709690	rs_772873287	1 SubmittersRCV001198055
NM_000334.4(SCN4A):c.703+1G>T	SNV Unknown	Chr17:63971161	Pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400638193	rs_1909596551	1 SubmittersRCV001197972
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)	SNV Germline	Chr17:63941918	Pathogenic/Likely pathogenic	Condition: not provided Hyperkalemic periodic paralysis Paramyotonia congenita of Von Eulenburg Hypokalemic periodic paralysis, type 2 7 conditions	Criteria Provided Multiple Submitters No Conflicts	CA292957326	rs_377176361	9 SubmittersRCV001200229 RCV001217902 RCV001564044 RCV003229884 RCV005005065
NM_000334.4(SCN4A):c.5171G>A (p.Arg1724Lys)	SNV Germline	Chr17:63941111	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8708828	rs_539487509	3 SubmittersRCV001222364 RCV003117852 RCV004032441
NM_000334.4(SCN4A):c.749T>G (p.Leu250Arg)	SNV Germline	Chr17:63968310	Likely pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400637779	rs_1057521065	1 SubmittersRCV001214233
NM_000334.4(SCN4A):c.3145-5C>A	SNV Germline	Chr17:63948068	Conflicting classifications of pathogenicity	7 conditions Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8709365	rs_750109872	4 SubmittersRCV005005073 RCV005241432 RCV001205239
NM_000334.4(SCN4A):c.3394C>T (p.Arg1132Trp)	SNV Germline	Chr17:63947092	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA8709291	rs_778176181	2 SubmittersRCV003142194 RCV001230572
NM_000334.4(SCN4A):c.2076C>G (p.Ile692Met)	SNV Germline	Chr17:63957462	Pathogenic/Likely pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Multiple Submitters No Conflicts	CA400631237	rs_1224997537	2 SubmittersRCV001225646
NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser)	SNV Germline	Chr17:63941774	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided 6 conditions not specified SCN4A-related disorder	Criteria Provided Conflicting Classifications	CA8708953	rs_114900922	6 SubmittersRCV001242831 RCV001840794 RCV002504346 RCV003987810 RCV004545146
NM_000334.4(SCN4A):c.5229A>G (p.Leu1743=)	SNV Germline	Chr17:63941053	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA501348015	rs_1908508905	2 SubmittersRCV001289203 RCV001437359
NM_000334.4(SCN4A):c.2377-5C>T	SNV Germline	Chr17:63951905	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA292964389	rs_560170181	2 SubmittersRCV001288742 RCV005094340
NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu)	SNV Germline	Chr17:63972624	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided not specified 7 conditions Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8710253	rs_75086141	6 SubmittersRCV001308968 RCV001786472 RCV001664819 RCV005014388 RCV005732362
NM_000334.4(SCN4A):c.4827C>T (p.Ser1609=)	SNV Germline	Chr17:63941455	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis 7 conditions	Criteria Provided Conflicting Classifications	CA292956831	rs_376689238	2 SubmittersRCV001337162 RCV005014444
NM_000334.4(SCN4A):c.3394C>G (p.Arg1132Gly)	SNV Germline	Chr17:63947092	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Hypokalemic periodic paralysis, type 2	Criteria Provided Conflicting Classifications	CA400619461	rs_778176181	2 SubmittersRCV001343311 RCV006255195
NM_000334.4(SCN4A):c.3539A>T (p.Asn1180Ile)	SNV Germline	Chr17:63945541	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Conflicting Classifications	CA400618183	rs_1908688683	2 SubmittersRCV001370561 RCV003127847
NM_000334.4(SCN4A):c.2143G>C (p.Ala715Pro)	SNV Germline	Chr17:63957395	Pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400630978	rs_749400108	1 SubmittersRCV001370510
NM_000334.4(SCN4A):c.608T>A (p.Met203Lys)	SNV Germline	Chr17:63971725	Pathogenic	Hyperkalemic periodic paralysis Congenital myopathy 22B, severe fetal	Criteria Provided Single Submitter	CA292972679	rs_933258893	2 SubmittersRCV001387955 RCV003227973
NM_000334.4(SCN4A):c.1623C>G (p.His541Gln)	SNV Germline	Chr17:63961415	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8709766	rs_538390338	2 SubmittersRCV001435830 RCV004656595
NM_000334.4(SCN4A):c.786C>T (p.Ser262=)	SNV Germline	Chr17:63968273	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided SCN4A-related disorder	Criteria Provided Conflicting Classifications	CA8710039	rs_746749167	4 SubmittersRCV001500051 RCV001581160 RCV004533897
NM_000334.4(SCN4A):c.4897C>G (p.Gln1633Glu)	SNV Germline	Chr17:63941385	Likely pathogenic	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Multiple Submitters No Conflicts	CA400614588	rs_2144773878	2 SubmittersRCV001663807 RCV003505180
NM_000334.4(SCN4A):c.665G>A (p.Arg222Gln)	SNV Germline	Chr17:63971200	Pathogenic/Likely pathogenic	Condition: not provided Hyperkalemic periodic paralysis Muscular channelopathy	Criteria Provided Multiple Submitters No Conflicts	CA292972566	rs_865887222	4 SubmittersRCV001806518 RCV003772220 RCV003994333
NM_000334.4(SCN4A):c.673C>T (p.Arg225Trp)	SNV Germline	Chr17:63971192	Conflicting classifications of pathogenicity	SCN4A-related non-dystrophic myotonia Hyperkalemic periodic paralysis Congenital myopathy 22A, classic Paramyotonia congenita of Von Eulenburg 7 conditions Congenital myasthenic syndrome 16 Congenital myopathy 22A, classic Congenital myopathy 22B, severe fetal	Criteria Provided Conflicting Classifications	CA8710086	rs_764718003	7 SubmittersRCV002267640 RCV002464491 RCV003227995 RCV003227994 RCV005023264 RCV006249395
NM_000334.4(SCN4A):c.1775C>T (p.Thr592Ile)	SNV Germline	Chr17:63961263	Pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400633021	rs_2144798676	1 SubmittersRCV001932309
NM_000334.4(SCN4A):c.3696G>A (p.Leu1232=)	SNV Germline	Chr17:63945384	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Conflicting Classifications	CA501348599	rs_2144779293	2 SubmittersRCV001952030 RCV003482383
NM_000334.4(SCN4A):c.1762A>G (p.Ile588Val)	SNV Germline	Chr17:63961276	Likely pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400633106	rs_2144798704	2 SubmittersRCV001976264
NM_000334.4(SCN4A):c.1800C>G (p.Tyr600Ter)	SNV Germline	Chr17:63961238	Pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400632903	rs_778746718	1 SubmittersRCV001923562
NM_000334.4(SCN4A):c.5290G>A (p.Asp1764Asn)	SNV Germline	Chr17:63940992	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA400612994	rs_2144773136	2 SubmittersRCV001940893 RCV002560725
NM_000334.4(SCN4A):c.4342C>G (p.Arg1448Gly)	SNV Germline	Chr17:63941940	Pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400616190	rs_121908544	1 SubmittersRCV002007313
NM_000334.4(SCN4A):c.584G>A (p.Trp195Ter)	SNV Germline	Chr17:63971749	Pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400638948	rs_1331907655	1 SubmittersRCV001994875
NM_000334.4(SCN4A):c.1249C>T (p.Arg417Ter)	SNV Germline	Chr17:63964671	Pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA292971029	rs_943370469	1 SubmittersRCV001949486
NM_000334.4(SCN4A):c.2143G>A (p.Ala715Thr)	SNV Germline	Chr17:63957395	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Conflicting Classifications	CA8709651	rs_749400108	2 SubmittersRCV001904650 RCV004812418
NM_000334.4(SCN4A):c.2500G>A (p.Gly834Ser)	SNV Germline	Chr17:63951777	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided 6 conditions Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA400626940	rs_899627353	4 SubmittersRCV002038144 RCV003136412 RCV002497962 RCV003250378
NM_000334.4(SCN4A):c.4098C>A (p.Asn1366Lys)	SNV Germline	Chr17:63943016	Likely pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400616745	rs_1908594231	1 SubmittersRCV002033630
NM_000334.4(SCN4A):c.918G>A (p.Trp306Ter)	SNV Germline	Chr17:63968141	Pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA8710000	rs_759347899	1 SubmittersRCV002049401
NM_000334.4(SCN4A):c.3442-15C>A	SNV Germline	Chr17:63945653	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis 7 conditions	Criteria Provided Conflicting Classifications	CA774009507	rs_763401184	2 SubmittersRCV002202529 RCV005017115
NM_000334.4(SCN4A):c.1755C>T (p.Thr585=)	SNV Germline	Chr17:63961283	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis 6 conditions Condition: not provided	Criteria Provided Conflicting Classifications	CA501349112	rs_1208231013	3 SubmittersRCV002104061 RCV002494221 RCV004598184
NM_000334.4(SCN4A):c.1326C>A (p.Ile442=)	SNV Germline	Chr17:63964594	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA501226241	rs_1909376846	2 SubmittersRCV002286098 RCV003097700
NM_000083.3(CLCN1):c.2015G>A (p.Arg672His)	SNV Germline	Chr7:143345605	Pathogenic	Hyperkalemic periodic paralysis	No Assertion Criteria Provided	CA369649895	rs_777888721	1 SubmittersRCV002306244
NM_000334.4(SCN4A):c.888C>T (p.Ser296=)	SNV Germline	Chr17:63968171	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA501348863	rs_1290597719	2 SubmittersRCV002475291 RCV003505290
NM_000334.4(SCN4A):c.4382T>C (p.Leu1461Pro)	SNV Germline	Chr17:63941900	Pathogenic/Likely pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Multiple Submitters No Conflicts	CA400616127	rs_2144774799	2 SubmittersRCV003041322
NM_000334.4(SCN4A):c.3175C>T (p.Arg1059Ter)	SNV Germline	Chr17:63948033	Pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA8709358	rs_775244273	1 SubmittersRCV002629991
NM_000334.4(SCN4A):c.2078T>G (p.Ile693Ser)	SNV Germline	Chr17:63957460	Likely pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400631226	rs_80338956	1 SubmittersRCV002625765
NM_000334.4(SCN4A):c.2937G>A (p.Glu979=)	SNV Germline	Chr17:63949445	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Conflicting Classifications	CA8709446	rs_763022938	2 SubmittersRCV002654224 RCV005635585
NM_000334.4(SCN4A):c.1037-1G>A	SNV Germline	Chr17:63966545	Likely pathogenic	Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA400636941	rs_1909453191	2 SubmittersRCV002675664 RCV003130739
NM_000334.4(SCN4A):c.4351C>T (p.Arg1451Cys)	SNV Germline	Chr17:63941931	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis 7 conditions	Criteria Provided Conflicting Classifications	CA8708989	rs_367960721	2 SubmittersRCV002646593 RCV005019309
NM_000334.4(SCN4A):c.1925G>A (p.Trp642Ter)	SNV Germline	Chr17:63959359	Pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400632031	rs_2509308046	1 SubmittersRCV002780305
NM_000334.4(SCN4A):c.1905C>A (p.Tyr635Ter)	SNV Germline	Chr17:63959379	Pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400632158	rs_774304336	1 SubmittersRCV002835364
NM_000334.4(SCN4A):c.3403C>T (p.Arg1135Cys)	SNV Germline	Chr17:63947083	Likely pathogenic	Condition: not provided Hyperkalemic periodic paralysis Congenital myopathy 22A, classic	Criteria Provided Multiple Submitters No Conflicts	CA400619401	rs_1287863349	3 SubmittersRCV003136482 RCV003505299 RCV004796779
NM_000334.4(SCN4A):c.5172G>A (p.Arg1724=)	SNV Germline	Chr17:63941110	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications	CA501348247	rs_2509283306	2 SubmittersRCV003482859 RCV003615961
NM_000334.4(SCN4A):c.3877G>C (p.Val1293Leu)	SNV Germline	Chr17:63944708	Likely pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400617290	rs_121908551	1 SubmittersRCV003505432
NM_000334.4(SCN4A):c.1641G>A (p.Trp547Ter)	SNV Germline	Chr17:63961397	Pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400633955	rs_1555603671	1 SubmittersRCV003505490
NM_000334.4(SCN4A):c.1606+1G>C	SNV Germline	Chr17:63963671	Likely pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400634399	rs_2509313987	1 SubmittersRCV003506043
NM_000334.4(SCN4A):c.3455C>A (p.Ala1152Asp)	SNV Germline	Chr17:63945625	Likely pathogenic	Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA400618813	rs_2509291040	2 SubmittersRCV003506304 RCV004999957
NM_000334.4(SCN4A):c.3937A>G (p.Thr1313Ala)	SNV Germline	Chr17:63943826	Pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400617124	rs_2509287979	1 SubmittersRCV003506587
NM_000334.4(SCN4A):c.4433C>T (p.Ser1478Leu)	SNV Germline	Chr17:63941849	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis Condition: not provided	Criteria Provided Conflicting Classifications	CA8708963	rs_201911612	3 SubmittersRCV003505034 RCV004810022
NM_000334.4(SCN4A):c.1125C>A (p.Cys375Ter)	SNV Germline	Chr17:63966219	Pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400636446	rs_557322255	1 SubmittersRCV003616069
NM_000334.4(SCN4A):c.1331C>A (p.Ala444Asp)	SNV Germline	Chr17:63964589	Pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400635025	rs_2509315709	1 SubmittersRCV003616945
NM_000334.4(SCN4A):c.3912+10A>C	SNV Germline	Chr17:63944663	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis not specified	Criteria Provided Conflicting Classifications	CA774008674	rs_1482444015	2 SubmittersRCV003830143 RCV005240950
NM_000334.4(SCN4A):c.611+1G>A	SNV Germline	Chr17:63971721	Likely pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter	CA400638825	rs_1358028812	1 SubmittersRCV003880080
NM_000334.4(SCN4A):c.4204C>T (p.Leu1402Phe)	SNV Germline	Chr17:63942910	Conflicting classifications of pathogenicity	Hyperkalemic periodic paralysis 7 conditions	Criteria Provided Conflicting Classifications	CA400616494	rs_2509286735	2 SubmittersRCV003990710 RCV005015110
NM_000334.4(SCN4A):c.3636C>T (p.Leu1212=)	SNV Germline	Chr17:63945444	Conflicting classifications of pathogenicity	7 conditions Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications			2 SubmittersRCV005025975 RCV006489138
NM_000334.4(SCN4A):c.4017+9C>T	SNV Germline	Chr17:63943737	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications			2 SubmittersRCV004997750 RCV005112495
NM_000334.4(SCN4A):c.3472C>G (p.Pro1158Ala)	SNV Germline	Chr17:63945608	Pathogenic/Likely pathogenic	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005001556 RCV005112519
NM_000334.4(SCN4A):c.4780A>T (p.Ile1594Phe)	SNV Germline	Chr17:63941502	Likely pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter			1 SubmittersRCV005860928
NM_000334.4(SCN4A):c.746A>G (p.Lys249Arg)	SNV Germline	Chr17:63968313	Conflicting classifications of pathogenicity	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Conflicting Classifications			2 SubmittersRCV006437643 RCV006480369
NM_000334.4(SCN4A):c.4097A>G (p.Asn1366Ser)	SNV Germline	Chr17:63943017	Pathogenic/Likely pathogenic	Condition: not provided Hyperkalemic periodic paralysis	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV006456303 RCV006480447
NM_000334.4(SCN4A):c.3913-2A>G	SNV Germline	Chr17:63943852	Likely pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter			1 SubmittersRCV006512859
NM_000334.4(SCN4A):c.971G>A (p.Trp324Ter)	SNV Germline	Chr17:63968088	Pathogenic	Hyperkalemic periodic paralysis	Criteria Provided Single Submitter			1 SubmittersRCV006514538

NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)

SNV
Germline

Chr17:63957427

Pathogenic/Likely pathogenic

Hyperkalemic periodic paralysis
Paramyotonia congenita/hyperkalemic periodic paralysis
Condition: not provided
6 conditions
Hypokalemic periodic paralysis, type 2
Sotos syndrome
SCN4A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA117833

rs_80338957

16 SubmittersRCV000006254 RCV000006255 RCV000255373 RCV000763020 RCV002291266 RCV003231090 RCV004532296

NM_000334.4(SCN4A):c.4774A>G (p.Met1592Val)

SNV
Germline

Chr17:63941508

Pathogenic

Hyperkalemic periodic paralysis
Paramyotonia congenita/hyperkalemic periodic paralysis
Condition: not provided
6 conditions
7 conditions
Congenital myopathy 22A, classic

Criteria Provided
Multiple Submitters
No Conflicts

CA117834

rs_80338962

10 SubmittersRCV000006256 RCV000006257 RCV000516497 RCV000763018 RCV005016245 RCV005417418

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

SNV
Germline

Chr17:63941940

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA117835

rs_121908544

9 SubmittersRCV000006258 RCV000206951 RCV000255921 RCV001813736 RCV003989102

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

SNV
Germline

Chr17:63941939

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA117836

rs_121908545

14 SubmittersRCV000006259 RCV000206992 RCV000517055 RCV000662289 RCV001775065 RCV002267600 RCV002288469 RCV003483425 RCV004734499

NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)

SNV
Germline

Chr17:63945614

Pathogenic/Likely pathogenic

Paramyotonia congenita/hyperkalemic periodic paralysis
Hyperkalemic periodic paralysis
Condition: not provided
Focal-onset seizure
6 conditions
Inborn genetic diseases
SCN4A-related disorder
Potassium-aggravated myotonia

Criteria Provided
Multiple Submitters
No Conflicts

CA117837

rs_80338958

13 SubmittersRCV000006260 RCV000020271 RCV000516392 RCV001004616 RCV002496281 RCV003162214 RCV004545720 RCV004595874

NM_000334.4(SCN4A):c.2411C>T (p.Ser804Phe)

SNV
Germline

Chr17:63951866

Pathogenic/Likely pathogenic

Paramyotonia congenita/myotonia congenita
Condition: not provided
Myotonia fluctuans
Hyperkalemic periodic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

CA117838

rs_121908546

5 SubmittersRCV000006261 RCV000489309 RCV001799586 RCV003505081

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

9 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
Condition: not provided
Hyperkalemic periodic paralysis
SCN4A-related non-dystrophic myotonia
7 conditions
SCN4A-related disorder
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Congenital myopathy 22A, classic

Criteria Provided
Multiple Submitters
No Conflicts

CA117840

rs_80338792

15 SubmittersRCV000006265 RCV000006264 RCV000479620 RCV000690377 RCV002267601 RCV005016246 RCV005867727 RCV005428990

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

SNV
Germline

Chr17:63943825

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA117841

rs_121908547

13 SubmittersRCV000006266 RCV000414134 RCV000540455 RCV000763019 RCV002267602 RCV003455986 RCV004532297 RCV004786239

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

SNV
Germline

Chr17:63941517

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA117842

rs_121908548

8 SubmittersRCV000006267 RCV000006268 RCV000518064 RCV000800365 RCV001849259

NM_000334.4(SCN4A):c.3478A>G (p.Ile1160Val)

SNV
Germline

Chr17:63945602

Pathogenic

Myotonia congenita, atypical, acetazolamide-responsive
Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

CA117843

rs_121908549

4 SubmittersRCV000006269 RCV000497702 RCV003505082

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

SNV
Germline

Chr17:63943846

Pathogenic/Likely pathogenic

Condition: not provided
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
Myotonia fluctuans
Potassium-aggravated myotonia
SCN4A-related channelopathy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA117845

rs_80338792

12 SubmittersRCV000153907 RCV000525753 RCV001535772 RCV001799587 RCV002288470 RCV005249982 RCV005480315

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
Skeletal muscle channelopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA117846

rs_121908551

9 SubmittersRCV000006272 RCV000396578 RCV000509130 RCV000654659 RCV006250154

NM_000334.4(SCN4A):c.1333G>A (p.Val445Met)

SNV
Germline

Chr17:63964587

Pathogenic

Potassium-aggravated myotonia
Condition: not provided
Hyperkalemic periodic paralysis
6 conditions
SCN4A-related non-dystrophic myotonia

Criteria Provided
Multiple Submitters
No Conflicts

CA117847

rs_121908552

11 SubmittersRCV000006273 RCV000255075 RCV000544236 RCV000763021 RCV002267604

NM_000334.4(SCN4A):c.2006G>A (p.Arg669His)

SNV
Germline

Chr17:63959278

Pathogenic

Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA253651

rs_80338784

5 SubmittersRCV000006274 RCV000206926 RCV003482224 RCV005016247

NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)

SNV
Germline

Chr17:63959269

Pathogenic

Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis
Condition: not provided
Acetazolamide-responsive myotonia
6 conditions
Paramyotonia congenita of Von Eulenburg
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA253652

rs_80338788

12 SubmittersRCV000006275 RCV000206975 RCV001532353 RCV003387718 RCV002490327 RCV004798719 RCV006605178

NM_000334.4(SCN4A):c.2014C>G (p.Arg672Gly)

SNV
Germline

Chr17:63959270

Pathogenic

Hypokalemic periodic paralysis, type 2
Hypokalemic periodic paralysis, type 1
Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253653

rs_80338785

5 SubmittersRCV000006276 RCV000020262 RCV000206901 RCV001092728

NM_000334.4(SCN4A):c.2014C>A (p.Arg672Ser)

SNV
Germline

Chr17:63959270

Pathogenic/Likely pathogenic

Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA253654

rs_80338785

6 SubmittersRCV000006279 RCV000206986 RCV003493408 RCV005416317

NM_000334.4(SCN4A):c.3472C>T (p.Pro1158Ser)

SNV
Germline

Chr17:63945608

Pathogenic

Hypokalemic periodic paralysis, type 2
Condition: not provided
Hyperkalemic periodic paralysis
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA253655

rs_121908555

5 SubmittersRCV000006280 RCV000713100 RCV001210018 RCV002512825

NM_000334.4(SCN4A):c.2023C>G (p.Arg675Gly)

SNV
Germline

Chr17:63957515

Pathogenic/Likely pathogenic

Normokalemic periodic paralysis, potassium-sensitive
Hyperkalemic periodic paralysis
Condition: not provided
Abnormality of the musculature

Criteria Provided
Multiple Submitters
No Conflicts

CA117850

rs_121908556

6 SubmittersRCV000006281 RCV000206909 RCV001172114 RCV001813957

NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)

SNV
Germline

Chr17:63957514

Pathogenic

Normokalemic periodic paralysis, potassium-sensitive
Hyperkalemic periodic paralysis
Condition: not provided
Myopathy
Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA117851

rs_121908557

10 SubmittersRCV000006282 RCV000206996 RCV000516541 RCV000543491 RCV003147276 RCV003335018 RCV005025013

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

SNV
Germline

Chr17:63943846

Pathogenic

Condition: not provided
Hyperkalemic periodic paralysis
Myotonia permanens
Paramyotonia congenita of Von Eulenburg
Potassium-aggravated myotonia
6 conditions
SCN4A-related myopathy, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA117852

rs_80338792

11 SubmittersRCV000489251 RCV000552020 RCV001799588 RCV002225070 RCV001823093 RCV002490328 RCV004786240

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

SNV
Germline

Chr17:63941854

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA117853

rs_121908559

5 SubmittersRCV000006284 RCV001781191 RCV001046179 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.2014C>T (p.Arg672Cys)

SNV
Germline

Chr17:63959270

Pathogenic

Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341668

rs_80338785

5 SubmittersRCV000206949 RCV002307367 RCV003482229

NM_000334.4(SCN4A):c.2065C>A (p.Leu689Ile)

SNV
Germline

Chr17:63957473

Pathogenic

Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Single Submitter

CA341669

rs_80338955

2 SubmittersRCV000020265 RCV001092727

NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln)

SNV
Germline

Chr17:63947091

Pathogenic

Hypokalemic periodic paralysis, type 2
Condition: not provided
Hyperkalemic periodic paralysis
not specified
Skeletal muscle channelopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA263213

rs_80338789

9 SubmittersRCV000043510 RCV000517960 RCV000692011 RCV001174896 RCV005644489

NM_000334.4(SCN4A):c.4078A>G (p.Met1360Val)

SNV
Germline

Chr17:63943036

Pathogenic/Likely pathogenic

Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341671

rs_80338959

2 SubmittersRCV000020272 RCV004998104

NM_000334.4(SCN4A):c.4108A>G (p.Met1370Val)

SNV
Germline

Chr17:63943006

Pathogenic/Likely pathogenic

Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341673

rs_80338960

3 SubmittersRCV000020273 RCV000992897

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

SNV
Germline

Chr17:63940878

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8708762

rs_267604988

6 SubmittersRCV000704360 RCV001127953 RCV001127954 RCV001127955 RCV001127956 RCV002460908 RCV004019085 RCV005025114

NM_000334.4(SCN4A):c.3774+8G>A

SNV
Germline

Chr17:63944999

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA220678

rs_374806849

4 SubmittersRCV000078660 RCV001084899

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

SNV
Germline

Chr17:63945476

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA155075

rs_201916531

5 SubmittersRCV000118269 RCV000289506 RCV000351508 RCV000392527 RCV000390854 RCV000811377 RCV003488392 RCV005016403

NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp)

SNV
Germline

Chr17:63971201

Pathogenic/Likely pathogenic

Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis
6 conditions
Condition: not provided
SCN4A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA345718

rs_527236148

9 SubmittersRCV000132735 RCV000654671 RCV000763022 RCV001508991 RCV004532585

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
7 conditions
SCN4A-related channelopathies

Criteria Provided
Conflicting Classifications

CA345719

rs_527236149

9 SubmittersRCV000132736 RCV000395392 RCV000547264 RCV000995863 RCV005025220 RCV006555039

NM_000334.4(SCN4A):c.3404G>A (p.Arg1135His)

SNV
Germline

Chr17:63947082

Pathogenic

Hypokalemic periodic paralysis, type 2
Condition: not provided
Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 1
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA345720

rs_527236150

9 SubmittersRCV000132737 RCV000254971 RCV000797599 RCV002305449 RCV005016463

NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys)

SNV
Germline

Chr17:63951529

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hyperkalemic periodic paralysis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA201120

rs_115379510

7 SubmittersRCV000174672 RCV000710210 RCV001085657 RCV002516640

NM_000334.4(SCN4A):c.2721C>T (p.Leu907=)

SNV
Germline

Chr17:63951556

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA240233

rs_376432808

2 SubmittersRCV000174673 RCV001484181

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
Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis, type 2
Condition: not provided
Hyperkalemic periodic paralysis
SCN4A-related disorder

Criteria Provided
Conflicting Classifications

CA205612

rs_202106192

9 SubmittersRCV000192652 RCV000276428 RCV000331539 RCV000371033 RCV000356751 RCV000713115 RCV001083289 RCV004537399

NM_000334.4(SCN4A):c.4434G>A (p.Ser1478=)

SNV
Germline

Chr17:63941848

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis
not specified

Criteria Provided
Conflicting Classifications

CA242396

rs_753725579

3 SubmittersRCV000176454 RCV002056949 RCV004998374

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
7 conditions

Criteria Provided
Conflicting Classifications

CA245096

rs_778661227

7 SubmittersRCV000286779 RCV000303252 RCV000399551 RCV000400438 RCV000713125 RCV000812584 RCV005016522

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

SNV
Germline

Chr17:63971855

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis
SCN4A-related disorder

Criteria Provided
Conflicting Classifications

CA245098

rs_191547933

5 SubmittersRCV000724873 RCV001079340 RCV004537458

NM_000334.4(SCN4A):c.4343G>C (p.Arg1448Pro)

SNV
Germline

Chr17:63941939

Pathogenic

Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA350900

rs_121908545

3 SubmittersRCV000206910 RCV000518944

NM_000334.4(SCN4A):c.1320T>G (p.Asn440Lys)

SNV
Germline

Chr17:63964600

Pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA351017

rs_864622785

1 SubmittersRCV000207008

NM_000334.4(SCN4A):c.4360C>T (p.Arg1454Trp)

SNV
Germline

Chr17:63941922

Likely pathogenic

Congenital myasthenic syndrome
Hyperkalemic periodic paralysis
Congenital myopathy 22A, classic
Congenital myasthenic syndrome 16

Criteria Provided
Multiple Submitters
No Conflicts

CA10584065

rs_879253789

4 SubmittersRCV000235032 RCV001056500 RCV003227471 RCV002512068

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

SNV
Germline

Chr17:63968107

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8709989

rs_199676994

11 SubmittersRCV000239078 RCV000300244 RCV000338802 RCV000400595 RCV000303708 RCV000624799 RCV000713127 RCV001082389

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

SNV
Germline

Chr17:63941701

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8708941

rs_752523459

3 SubmittersRCV000253433 RCV001126272 RCV001126274 RCV001126271 RCV001126273 RCV001126270

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
Potassium-aggravated myotonia
Congenital myasthenic syndrome 16
Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA8709038

rs_141215137

7 SubmittersRCV000252947 RCV000297994 RCV000349403 RCV000406690 RCV000403429 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
Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8709287

rs_373597946

5 SubmittersRCV000247115 RCV000877391 RCV001126659 RCV001127053 RCV001127054 RCV001126658 RCV003422167

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

SNV
Germline

Chr17:63966474

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8709939

rs_200770684

10 SubmittersRCV000243786 RCV000266497 RCV000301554 RCV000355473 RCV000358716 RCV000513381 RCV001085026

NM_000334.4(SCN4A):c.703+6G>A

SNV
Germline

Chr17:63971156

Conflicting classifications of pathogenicity

not specified
Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8710079

rs_748828476

3 SubmittersRCV000247912 RCV003615829 RCV004705077

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

SNV
Germline

Chr17:63971859

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8710143

rs_201552497

4 SubmittersRCV000250421 RCV000290044 RCV000286461 RCV000326290 RCV000380892 RCV000823932 RCV000713117

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

Criteria Provided
Conflicting Classifications

CA8710164

rs_148028364

6 SubmittersRCV000252827 RCV000282590 RCV000297937 RCV000398536 RCV000394071 RCV000513070 RCV001083859 RCV004529423

NM_000334.4(SCN4A):c.4776G>T (p.Met1592Ile)

SNV
Germline

Chr17:63941506

Pathogenic/Likely pathogenic

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

CA10603317

rs_886041805

2 SubmittersRCV000319375 RCV005090333

NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn)

SNV
Germline

Chr17:63948003

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis
7 conditions

Criteria Provided
Conflicting Classifications

CA8709348

rs_373150395

4 SubmittersRCV000438769 RCV001058903 RCV005025415

NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=)

SNV
Germline

Chr17:63940915

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA8708771

rs_189230866

4 SubmittersRCV000713123 RCV001088129

NM_000334.4(SCN4A):c.3893T>G (p.Phe1298Cys)

SNV
Germline

Chr17:63944692

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA10605700

rs_886043595

4 SubmittersRCV000725970 RCV001362169

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

SNV
Germline

Chr17:63938621

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10640187

rs_182791237

1 SubmittersRCV000302942 RCV000303993 RCV000355485 RCV000342462 RCV000395408

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

SNV
Germline

Chr17:63940642

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10640206

rs_140026321

1 SubmittersRCV000293949 RCV000289000 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
Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis
Paramyotonia congenita of Von Eulenburg

Criteria Provided
Conflicting Classifications

CA10640210

rs_566876110

1 SubmittersRCV000273794 RCV000299249 RCV000353404 RCV000356463 RCV000390582

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

SNV
Germline

Chr17:63940989

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8708788

rs_531694454

3 SubmittersRCV000279048 RCV000284690 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
not specified

Criteria Provided
Conflicting Classifications

CA8708790

rs_763493738

3 SubmittersRCV000290622 RCV000345319 RCV000384970 RCV000393903 RCV000813822 RCV006268736

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
Limb-girdle muscular dystrophy

Criteria Provided
Conflicting Classifications

CA8709421

rs_377277110

5 SubmittersRCV000270326 RCV000271110 RCV000332377 RCV000362158 RCV000555752 RCV002280115 RCV004537817 RCV005625549

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
Condition: not provided
Paramyotonia congenita of Von Eulenburg
7 conditions

Criteria Provided
Conflicting Classifications

CA8708885

rs_202102815

5 SubmittersRCV000265921 RCV000305878 RCV000336274 RCV000360583 RCV000654673 RCV000402814 RCV005016716

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
7 conditions
not specified

Criteria Provided
Conflicting Classifications

CA8708910

rs_772552529

6 SubmittersRCV000286107 RCV000335223 RCV000374780 RCV000408219 RCV000534953 RCV002522999 RCV003137924 RCV005025452 RCV005055881

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8709297

rs_377187913

3 SubmittersRCV000261415 RCV000264831 RCV000322319 RCV000362052 RCV000654704 RCV006441874

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
not specified
Hyperkalemic periodic paralysis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8709386

rs_759982229

7 SubmittersRCV000298316 RCV000301675 RCV000341585 RCV000393109 RCV000479192 RCV000697130 RCV000766442 RCV002523001

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

SNV
Germline

Chr17:63949533

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8709466

rs_374039266

6 SubmittersRCV000275763 RCV000311093 RCV000316895 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
SCN4A-related disorder

Criteria Provided
Conflicting Classifications

CA8709542

rs_201148948

10 SubmittersRCV000279770 RCV000299674 RCV000334804 RCV000358171 RCV000489566 RCV000761997 RCV001084946 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
Congenital myasthenic syndrome 16
Paramyotonia congenita of Von Eulenburg
not specified
Hyperkalemic periodic paralysis
Condition: not provided
7 conditions
SCN4A-related disorder

Criteria Provided
Conflicting Classifications

CA8709564

rs_372019457

8 SubmittersRCV000281591 RCV000336729 RCV000377274 RCV000371513 RCV000518648 RCV000654664 RCV003137928 RCV005025453 RCV004734977

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

2 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
not specified

Criteria Provided
Conflicting Classifications

CA8709850

rs_527384137

4 SubmittersRCV000317450 RCV000333024 RCV000374441 RCV000389415 RCV000839298 RCV001080681 RCV006441875

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
Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg

Criteria Provided
Conflicting Classifications

CA10646463

rs_546675124

1 SubmittersRCV000274454 RCV000289704 RCV000325814 RCV000329541 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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8708818

rs_199944673

3 SubmittersRCV000268020 RCV000298506 RCV000323138 RCV000353353 RCV001054673 RCV006362274

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

2 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
Hypokalemic periodic paralysis, type 2
Congenital myasthenic syndrome 16
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8708911

rs_531658524

4 SubmittersRCV000310505 RCV000341016 RCV000365211 RCV000408216 RCV000406650 RCV002524435 RCV004772897

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8708921

rs_751454852

3 SubmittersRCV000261866 RCV000286707 RCV000317202 RCV000323034 RCV000371794 RCV006436744

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

SNV
Germline

Chr17:63941997

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8708999

rs_750364111

2 SubmittersRCV000261012 RCV000297456 RCV000301113 RCV000361807 RCV000355938

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

SNV
Germline

Chr17:63949520

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8709459

rs_375375167

2 SubmittersRCV000307091 RCV000303501 RCV000364129 RCV000346621 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
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg

Criteria Provided
Conflicting Classifications

CA8710020

rs_560230431

2 SubmittersRCV000275919 RCV000329858 RCV000333300 RCV000367925 RCV000371590

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

8 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
Potassium-aggravated myotonia
Hyperkalemic periodic paralysis
Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis, type 2
Condition: not provided
7 conditions

Criteria Provided
Conflicting Classifications

CA8710196

rs_150158100

6 SubmittersRCV000269546 RCV000324805 RCV000309638 RCV000364205 RCV000379284 RCV001310375 RCV005025454

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

5 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
Condition: not provided
Hyperkalemic periodic paralysis
SCN4A-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8709746

rs_187401185

9 SubmittersRCV000263270 RCV000298352 RCV000299745 RCV000391174 RCV000416101 RCV001086523 RCV004537819 RCV004999317

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

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

Criteria Provided
Conflicting Classifications

CA8709918

rs_766463226

5 SubmittersRCV000291434 RCV000288041 RCV000348654 RCV000345383 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

5 SubmittersRCV000270842 RCV000328128 RCV000381655 RCV000385049 RCV000611460 RCV000873888 RCV001718679

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

SNV
Germline

Chr17:63972845

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8710313

rs_565414568

3 SubmittersRCV000289842 RCV000286537 RCV000344781 RCV000384345 RCV000395817 RCV002254922

NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr)

SNV
Germline

Chr17:63957443

Conflicting classifications of pathogenicity

Myotonia
Handgrip myotonia
Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16043536

rs_1057518865

6 SubmittersRCV000414860 RCV001070785 RCV001566689

NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu)

SNV
Unknown

Chr17:63964587

Conflicting classifications of pathogenicity

Myotonia
Muscle weakness
Batten-Turner congenital myopathy
Pain
EMG: myotonic discharges
Distal sensory impairment
Muscle weakness
Limb pain
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA16043537

rs_121908552

1 SubmittersRCV000414792 RCV000415234 RCV000626662 RCV001197414

NM_000334.4(SCN4A):c.3688G>A (p.Val1230Met)

SNV
Germline

Chr17:63945392

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA8709207

rs_778820577

3 SubmittersRCV000418825 RCV000528478

NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val)

SNV
Germline

Chr17:63951891

Pathogenic/Likely pathogenic

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

CA16607432

rs_750053946

3 SubmittersRCV000435175 RCV000821671

NM_000334.4(SCN4A):c.749T>C (p.Leu250Pro)

SNV
Germline

Chr17:63968310

Pathogenic/Likely pathogenic

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

CA16607433

rs_1057521065

2 SubmittersRCV000439261 RCV001861506

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

SNV
Germline

Chr17:63941169

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16620553

rs_1064794243

6 SubmittersRCV000484046 RCV000654650 RCV002289626

NM_000334.4(SCN4A):c.4427T>C (p.Met1476Thr)

SNV
Germline

Chr17:63941855

Pathogenic/Likely pathogenic

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

CA16620554

rs_1064795409

4 SubmittersRCV000484396 RCV001061560

NM_000334.4(SCN4A):c.3774+20A>G

SNV
Germline

Chr17:63944987

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis
7 conditions

Criteria Provided
Conflicting Classifications

CA8709163

rs_377552760

3 SubmittersRCV000480061 RCV002056808 RCV005018817

NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile)

SNV
Germline

Chr17:63941506

Pathogenic/Likely pathogenic

Condition: not provided
6 conditions
Hyperkalemic periodic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

CA400615002

rs_886041805

3 SubmittersRCV000489768 RCV000763017 RCV001856911

NM_000334.4(SCN4A):c.1520A>G (p.Asn507Ser)

SNV
Germline

Chr17:63963758

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis
not specified
7 conditions

Criteria Provided
Conflicting Classifications

CA8709823

rs_201793080

5 SubmittersRCV000493097 RCV000700005 RCV004999539 RCV005004192

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

SNV
Germline

Chr17:63968041

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8709973

rs_147936148

6 SubmittersRCV000492837 RCV000764145 RCV001122195 RCV001122197 RCV001122193 RCV001122194 RCV001122196 RCV001252850

NM_000334.4(SCN4A):c.1000G>A (p.Asp334Asn)

SNV
Germline

Chr17:63968059

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided
7 conditions

Criteria Provided
Conflicting Classifications

CA8709979

rs_766055241

4 SubmittersRCV001036702 RCV001696819 RCV005018829

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
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA8709453

rs_200947169

6 SubmittersRCV000498111 RCV001079858 RCV001126869 RCV001126870 RCV001126871 RCV001126872 RCV004955543 RCV006438102

NM_000334.4(SCN4A):c.644T>C (p.Ile215Thr)

SNV
Germline

Chr17:63971221

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA400638301

rs_1555604867

5 SubmittersRCV000498780 RCV000512650 RCV001237631

NM_000334.4(SCN4A):c.4288+6C>T

SNV
Germline

Chr17:63942820

Conflicting classifications of pathogenicity

not specified
Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8709022

rs_148187651

3 SubmittersRCV000502756 RCV001312921 RCV001591142

NM_000334.4(SCN4A):c.4218C>G (p.Ala1406=)

SNV
Germline

Chr17:63942896

Conflicting classifications of pathogenicity

not specified
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA8709036

rs_770836153

2 SubmittersRCV000501785 RCV002524292

NM_000334.4(SCN4A):c.52C>A (p.Arg18Ser)

SNV
Germline

Chr17:63972790

Conflicting classifications of pathogenicity

not specified
Hyperkalemic periodic paralysis
Condition: not provided
6 conditions

Criteria Provided
Conflicting Classifications

CA8710300

rs_78592515

8 SubmittersRCV000499480 RCV000545405 RCV001584220 RCV002490841

NM_000334.4(SCN4A):c.4364T>G (p.Ile1455Ser)

SNV
Germline

Chr17:63941918

Conflicting classifications of pathogenicity

not specified
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA400616157

rs_377176361

2 SubmittersRCV000516219 RCV006463222

NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His)

SNV
Germline

Chr17:63941930

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
SCN4A-related non-dystrophic myotonia
Hypokalemic periodic paralysis, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA292957365

rs_748517635

5 SubmittersRCV000532008 RCV002267617 RCV002305499 RCV002473036

NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu)

SNV
Germline

Chr17:63945607

Likely pathogenic

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

CA400618699

rs_1555601448

2 SubmittersRCV000518217 RCV000545880

NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu)

SNV
Germline

Chr17:63964587

Pathogenic/Likely pathogenic

Condition: not provided
Hyperkalemic periodic paralysis
SCN4A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA400635022

rs_121908552

5 SubmittersRCV000516348 RCV000559054 RCV004527624

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
Paramyotonia congenita of Von Eulenburg
Congenital myasthenic syndrome 16
Hypokalemic periodic paralysis, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8709980

rs_149726115

5 SubmittersRCV000516880 RCV000654683 RCV001124976 RCV001124977 RCV001124974 RCV001124975 RCV001696979

NM_000334.4(SCN4A):c.3001C>T (p.Arg1001Cys)

SNV
Germline

Chr17:63948754

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8709419

rs_199713025

3 SubmittersRCV000524957 RCV001696982

NM_000334.4(SCN4A):c.2188G>A (p.Val730Met)

SNV
Germline

Chr17:63957350

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided
SCN4A-related disorder

Criteria Provided
Conflicting Classifications

CA8709641

rs_113462659

5 SubmittersRCV000528925 RCV001559485 RCV004530585

NM_000334.4(SCN4A):c.154C>T (p.Arg52Trp)

SNV
Germline

Chr17:63972688

Conflicting classifications of pathogenicity

not specified
Congenital myasthenic syndrome 16
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA8710269

rs_201379704

4 SubmittersRCV000607192 RCV000680091 RCV001080406

NM_000334.4(SCN4A):c.3058C>G (p.Leu1020Val)

SNV
Germline

Chr17:63948697

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided
Inborn genetic diseases
7 conditions

Criteria Provided
Conflicting Classifications

CA8709403

rs_371779795

4 SubmittersRCV000554442 RCV003139863 RCV004024399 RCV005004247

NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn)

SNV
Germline

Chr17:63951483

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Inborn genetic diseases
Congenital myasthenic syndrome 16
7 conditions

Criteria Provided
Conflicting Classifications

CA8709499

rs_199656266

4 SubmittersRCV000538078 RCV001267294 RCV001335257 RCV005027661

NM_000334.4(SCN4A):c.2200G>T (p.Ala734Ser)

SNV
Germline

Chr17:63957338

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8709637

rs_199651516

5 SubmittersRCV000539082 RCV001548373 RCV002526745

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

SNV
Germline

Chr17:63972797

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8710305

rs_763166498

3 SubmittersRCV000536313 RCV001123698 RCV001123697 RCV001126368 RCV001123699 RCV005000223

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

SNV
Germline

Chr17:63941101

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8708825

rs_368263333

6 SubmittersRCV000530869 RCV001091886 RCV001125079 RCV001125081 RCV001125080 RCV001126048 RCV004543246

NM_000334.4(SCN4A):c.3425G>A (p.Arg1142Gln)

SNV
Germline

Chr17:63947061

Pathogenic/Likely pathogenic

Hyperkalemic periodic paralysis
Congenital myopathy 22A, classic
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8709288

rs_780703403

3 SubmittersRCV000557400 RCV003227493 RCV004820047

NM_000334.4(SCN4A):c.4378C>T (p.Arg1460Trp)

SNV
Germline

Chr17:63941904

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided
SCN4A-related disorder

Criteria Provided
Conflicting Classifications

CA8708979

rs_368256039

4 SubmittersRCV000543330 RCV001551793 RCV004530586

NM_000334.4(SCN4A):c.1576G>A (p.Gly526Arg)

SNV
Germline

Chr17:63963702

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8709806

rs_181292216

4 SubmittersRCV000558352 RCV001785663 RCV004659116

NM_000334.4(SCN4A):c.2292G>A (p.Glu764=)

SNV
Germline

Chr17:63957246

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA501225306

rs_1555603112

2 SubmittersRCV000591056 RCV003615848

NM_000334.4(SCN4A):c.5468C>G (p.Pro1823Arg)

SNV
Germline

Chr17:63940814

Conflicting classifications of pathogenicity

not specified
Hyperkalemic periodic paralysis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8708743

rs_376833596

5 SubmittersRCV000602775 RCV001079138 RCV000876059 RCV002528600

NM_000334.4(SCN4A):c.4360C>A (p.Arg1454=)

SNV
Germline

Chr17:63941922

Conflicting classifications of pathogenicity

not specified
Hyperkalemic periodic paralysis
7 conditions

Criteria Provided
Conflicting Classifications

CA501348524

rs_879253789

3 SubmittersRCV000601532 RCV001868091 RCV005019033

NM_000334.4(SCN4A):c.2861C>T (p.Pro954Leu)

SNV
Germline

Chr17:63949521

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided
SCN4A-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8709460

rs_201367621

5 SubmittersRCV001222363 RCV001707788 RCV004530787 RCV004669056

NM_000334.4(SCN4A):c.3441+4G>A

SNV
Germline

Chr17:63947041

Conflicting classifications of pathogenicity

not specified
Hyperkalemic periodic paralysis
7 conditions

Criteria Provided
Conflicting Classifications

CA8709282

rs_765176007

3 SubmittersRCV000615391 RCV001361857 RCV005019032

NM_000334.4(SCN4A):c.4416G>A (p.Leu1472=)

SNV
Germline

Chr17:63941866

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8708966

rs_758113478

3 SubmittersRCV000654672 RCV002477460 RCV003140045

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

Criteria Provided
Conflicting Classifications

CA8709518

rs_200517944

8 SubmittersRCV000654656 RCV000764142 RCV000992893 RCV001126956 RCV001126957 RCV001126959 RCV001126958 RCV003303080 RCV005019089

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

SNV
Germline

Chr17:63941134

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA501348304

rs_1244264430

2 SubmittersRCV000654686 RCV001126049 RCV001126050 RCV001126051 RCV001126052

NM_000334.4(SCN4A):c.1585G>T (p.Gly529Cys)

SNV
Germline

Chr17:63963693

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided
Inborn genetic diseases
7 conditions

Criteria Provided
Conflicting Classifications

CA8709800

rs_143457794

5 SubmittersRCV000654668 RCV001572484 RCV005732155 RCV005004313

NM_000334.4(SCN4A):c.5104G>A (p.Glu1702Lys)

SNV
Germline

Chr17:63941178

Pathogenic/Likely pathogenic

Hyperkalemic periodic paralysis
Condition: not provided
7 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA400614067

rs_1555600605

4 SubmittersRCV000654653 RCV000713121 RCV005019088

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.393-1C>T

SNV
Germline

Chr17:63972226

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400639785

rs_1199378574

3 SubmittersRCV000654657 RCV002477458 RCV003140044

NM_000334.4(SCN4A):c.4442C>A (p.Ala1481Asp)

SNV
Germline

Chr17:63941840

Pathogenic

Hyperkalemic periodic paralysis
SCN4A-related non-dystrophic myotonia

Criteria Provided
Single Submitter

CA400616016

rs_763893717

2 SubmittersRCV000698645 RCV002267623

NM_000334.4(SCN4A):c.4300T>C (p.Ser1434Pro)

SNV
Germline

Chr17:63941982

Pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400616279

rs_1567816549

1 SubmittersRCV000685540

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

SNV
Germline

Chr17:63964566

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8709861

rs_372631097

10 SubmittersRCV000688828 RCV001127863 RCV001127864 RCV001127865 RCV001127862 RCV001552589 RCV001535724 RCV002544829 RCV004689855 RCV005021058

NM_000334.4(SCN4A):c.46T>A (p.Cys16Ser)

SNV
Germline

Chr17:63972796

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
6 conditions

Criteria Provided
Conflicting Classifications

CA8710304

rs_773541890

2 SubmittersRCV000695117 RCV002493197

NM_000334.4(SCN4A):c.5291A>G (p.Asp1764Gly)

SNV
Germline

Chr17:63940991

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA400612988

rs_1567815771

3 SubmittersRCV000706479 RCV003141706 RCV004965709

NM_000334.4(SCN4A):c.4388G>T (p.Arg1463Leu)

SNV
Germline

Chr17:63941894

Likely pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA292957285

rs_771340029

1 SubmittersRCV000692303

NM_000334.4(SCN4A):c.3929T>A (p.Ile1310Asn)

SNV
Germline

Chr17:63943834

Pathogenic/Likely pathogenic

Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400617144

rs_1567817380

2 SubmittersRCV000699036 RCV002473118

NM_000334.4(SCN4A):c.5366C>T (p.Ser1789Leu)

SNV
Germline

Chr17:63940916

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided
7 conditions

Criteria Provided
Conflicting Classifications

CA8708772

rs_201414160

5 SubmittersRCV000690005 RCV000728436 RCV005004368

NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys)

SNV
Germline

Chr17:63942892

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
6 conditions
Condition: not provided
7 conditions

Criteria Provided
Conflicting Classifications

CA8709034

rs_118047588

5 SubmittersRCV000688248 RCV000764140 RCV001508990 RCV005021057

NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg)

SNV
Germline

Chr17:63948751

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
7 conditions
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8709417

rs_544082594

4 SubmittersRCV000702856 RCV005004379 RCV004588146 RCV004997204

NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr)

SNV
Germline

Chr17:63951858

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8709586

rs_770694096

6 SubmittersRCV000694016 RCV000992891 RCV003303139 RCV005021070 RCV005409721

NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu)

SNV
Germline

Chr17:63941333

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis
7 conditions

Criteria Provided
Conflicting Classifications

CA8708869

rs_774183791

5 SubmittersRCV000713119 RCV001224260 RCV005004385

NM_000334.4(SCN4A):c.4426A>G (p.Met1476Val)

SNV
Germline

Chr17:63941856

Pathogenic/Likely pathogenic

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

CA400616050

rs_1567816461

2 SubmittersRCV000713114 RCV001048956

NM_000334.4(SCN4A):c.4372G>T (p.Val1458Phe)

SNV
Germline

Chr17:63941910

Pathogenic/Likely pathogenic

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

CA400616143

rs_1199222144

3 SubmittersRCV000713110 RCV000804436

NM_000334.4(SCN4A):c.4343G>T (p.Arg1448Leu)

SNV
Germline

Chr17:63941939

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA400616189

rs_121908545

3 SubmittersRCV000713109 RCV002532949

NM_000334.4(SCN4A):c.2150T>C (p.Val717Ala)

SNV
Germline

Chr17:63957388

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA400630954

rs_1567823095

3 SubmittersRCV000713095 RCV001346721

NM_000334.4(SCN4A):c.1902C>T (p.Pro634=)

SNV
Germline

Chr17:63959382

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA8709710

rs_368811155

3 SubmittersRCV000713091 RCV001087626

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
Congenital myasthenic syndrome 16
Potassium-aggravated myotonia

Criteria Provided
Conflicting Classifications

CA8710252

rs_779890709

3 SubmittersRCV000713096 RCV001126276 RCV001126277 RCV001126278 RCV001126275 RCV001125304

NM_000334.4(SCN4A):c.211C>T (p.Pro71Ser)

SNV
Germline

Chr17:63972631

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis
7 conditions

Criteria Provided
Conflicting Classifications

CA8710256

rs_187055074

4 SubmittersRCV000713094 RCV000808350 RCV005021114

NM_000334.4(SCN4A):c.4783G>T (p.Ala1595Ser)

SNV
Germline

Chr17:63941499

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA400614985

rs_761947899

2 SubmittersRCV000761996 RCV005092196

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
Paramyotonia congenita of Von Eulenburg
Hypokalemic periodic paralysis, type 2
Hyperkalemic periodic paralysis
Congenital myasthenic syndrome 16
Condition: not provided
7 conditions

Criteria Provided
Conflicting Classifications

CA8708764

rs_201192904

6 SubmittersRCV000801375 RCV001124968 RCV001122190 RCV001122191 RCV001122192 RCV001535692 RCV001662830 RCV005029473

NM_000334.4(SCN4A):c.4916G>A (p.Arg1639His)

SNV
Germline

Chr17:63941366

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided
6 conditions
not specified

Criteria Provided
Conflicting Classifications

CA8708874

rs_368186423

4 SubmittersRCV000817315 RCV003141840 RCV002487806 RCV004997377

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
Potassium-aggravated myotonia
Paramyotonia congenita of Von Eulenburg

Criteria Provided
Conflicting Classifications

CA8708901

rs_761947899

2 SubmittersRCV000801176 RCV001126167 RCV001126168 RCV001128246 RCV001128247

NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr)

SNV
Germline

Chr17:63941798

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA400615926

rs_1318966106

5 SubmittersRCV000809929 RCV001664430 RCV005432440

NM_000334.4(SCN4A):c.4388G>A (p.Arg1463His)

SNV
Germline

Chr17:63941894

Pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA8708975

rs_771340029

1 SubmittersRCV000795668

NM_000334.4(SCN4A):c.4387C>A (p.Arg1463Ser)

SNV
Germline

Chr17:63941895

Likely pathogenic

Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA8708976

rs_774453167

2 SubmittersRCV000810571 RCV001568013

NM_000334.4(SCN4A):c.4307T>C (p.Leu1436Pro)

SNV
Germline

Chr17:63941975

Pathogenic

Hyperkalemic periodic paralysis
Condition: not provided
SCN4A-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA400616264

rs_1598405334

5 SubmittersRCV000819512 RCV000992899 RCV004545804

NM_000334.4(SCN4A):c.4201G>A (p.Val1401Met)

SNV
Germline

Chr17:63942913

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8709040

rs_572380012

4 SubmittersRCV000811262 RCV003338817 RCV003141822

NM_000334.4(SCN4A):c.4116G>A (p.Val1372=)

SNV
Germline

Chr17:63942998

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
7 conditions

Criteria Provided
Conflicting Classifications

CA8709049

rs_755256694

2 SubmittersRCV000818996 RCV005021247

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

SNV
Germline

Chr17:63943066

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8709063

rs_200274258

6 SubmittersRCV000807569 RCV001122807 RCV001122806 RCV001122808 RCV001122809 RCV001288744 RCV005029487

NM_000334.4(SCN4A):c.808C>A (p.Gln270Lys)

SNV
Germline

Chr17:63968251

Pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400637663

rs_1597985462

1 SubmittersRCV000813734

NM_000334.4(SCN4A):c.55C>G (p.Pro19Ala)

SNV
Germline

Chr17:63972787

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Inborn genetic diseases
7 conditions

Criteria Provided
Conflicting Classifications

CA8710297

rs_772628295

3 SubmittersRCV000818834 RCV004028992 RCV005029508

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
Hyperkalemic periodic paralysis
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2

Criteria Provided
Conflicting Classifications

CA8709503

rs_769634298

3 SubmittersRCV000833262 RCV001124289 RCV001124290 RCV001123199 RCV001123198 RCV001123200

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
Potassium-aggravated myotonia
Hypokalemic periodic paralysis, type 2
Paramyotonia congenita of Von Eulenburg

Criteria Provided
Conflicting Classifications

CA8709054

rs_374480468

3 SubmittersRCV000876179 RCV001128511 RCV001128513 RCV001128509 RCV001128510 RCV001128512

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

CA8709537

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

Criteria Provided
Conflicting Classifications

CA8709991

rs_185246154

2 SubmittersRCV000875882 RCV001128051 RCV001128053 RCV001128052 RCV001128054

NM_000334.4(SCN4A):c.1846-6C>A

SNV
Germline

Chr17:63959444

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8709720

rs_190853310

2 SubmittersRCV000873525 RCV001731962

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

SNV
Germline

Chr17:63971855

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8710137

rs_191547933

3 SubmittersRCV000876671 RCV003141885 RCV003987734

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

CA8708926

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

CA8710301

rs_78592515

3 SubmittersRCV001123693 RCV001123694 RCV001123695 RCV001123696 RCV001123692 RCV001252838

NM_000334.4(SCN4A):c.235C>T (p.Pro79Ser)

SNV
Germline

Chr17:63972607

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided
7 conditions

Criteria Provided
Conflicting Classifications

CA8710248

rs_376505442

5 SubmittersRCV000964702 RCV001564401 RCV005029542

NM_000334.4(SCN4A):c.2797C>G (p.Leu933Val)

SNV
Germline

Chr17:63951480

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8709498

rs_757508857

3 SubmittersRCV000887601 RCV002539367 RCV003141889

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

SNV
Germline

Chr17:63959289

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8709693

rs_189925781

2 SubmittersRCV000899445 RCV001125596 RCV001125594 RCV001125595 RCV001125597

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

SNV
Germline

Chr17:63941282

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8708860

rs_765721076

4 SubmittersRCV000996595 RCV001049957 RCV001128147 RCV001128148 RCV001128146 RCV001126053 RCV005029551

NM_000334.4(SCN4A):c.1201C>T (p.Arg401Cys)

SNV
Germline

Chr17:63966143

Conflicting classifications of pathogenicity

Congenital myasthenic syndrome 16
Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400635976

rs_1188070167

3 SubmittersRCV000995864 RCV002549921 RCV003332276

NM_000334.4(SCN4A):c.4109T>C (p.Met1370Thr)

SNV
Germline

Chr17:63943005

Likely pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400616722

rs_1908593639

1 SubmittersRCV001053370

NM_000334.4(SCN4A):c.3615C>G (p.Asn1205Lys)

SNV
Germline

Chr17:63945465

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Congenital myopathy 22A, classic
Congenital myasthenic syndrome 16
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400617905

rs_1181083611

4 SubmittersRCV001065707 RCV003227512 RCV002512136 RCV004792710

NM_000334.4(SCN4A):c.2005C>T (p.Arg669Cys)

SNV
Germline

Chr17:63959279

Likely pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA292966944

rs_897448432

1 SubmittersRCV001046074

NM_000334.4(SCN4A):c.715A>G (p.Ile239Val)

SNV
Germline

Chr17:63968344

Likely pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400637904

rs_1909519361

1 SubmittersRCV001056914

NM_000334.4(SCN4A):c.436G>A (p.Val146Ile)

SNV
Germline

Chr17:63972182

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
6 conditions
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8710160

rs_367988986

5 SubmittersRCV001046562 RCV002481925 RCV002508282 RCV002553146

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

SNV
Germline

Chr17:63938601

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA292954672

rs_569759069

1 SubmittersRCV001123025 RCV001123026 RCV001123024 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
SCN4A-related disorder
7 conditions

Criteria Provided
Conflicting Classifications

CA8709035

rs_118047588

6 SubmittersRCV001122705 RCV001122707 RCV001122704 RCV001122706 RCV001122708 RCV002254952 RCV004734022 RCV005021462

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
Potassium-aggravated myotonia
Hyperkalemic periodic paralysis
Paramyotonia congenita of Von Eulenburg

Criteria Provided
Conflicting Classifications

CA8709401

rs_770497876

2 SubmittersRCV001127158 RCV001127160 RCV001127157 RCV001127159 RCV001127161

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
7 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8709413

rs_781028684

4 SubmittersRCV001123102 RCV001123103 RCV001127162 RCV001127163 RCV001127164 RCV005021463 RCV005633897

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

CA8709500

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

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

Criteria Provided
Conflicting Classifications

CA8709555

rs_752159625

4 SubmittersRCV001127500 RCV001123385 RCV001127501 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

CA8709807

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

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

Criteria Provided
Conflicting Classifications

CA501225906

rs_373819078

2 SubmittersRCV001127777 RCV001127779 RCV001127776 RCV001127778 RCV001127780

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

SNV
Germline

Chr17:63972390

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8710198

rs_753453769

2 SubmittersRCV001122514 RCV001122513 RCV001122515 RCV001125302 RCV001125303

NM_000334.4(SCN4A):c.2012T>G (p.Phe671Cys)

SNV
Unknown

Chr17:63959272

Likely pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA8709690

rs_772873287

1 SubmittersRCV001198055

NM_000334.4(SCN4A):c.703+1G>T

SNV
Unknown

Chr17:63971161

Pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400638193

rs_1909596551

1 SubmittersRCV001197972

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

SNV
Germline

Chr17:63941918

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA292957326

rs_377176361

9 SubmittersRCV001200229 RCV001217902 RCV001564044 RCV003229884 RCV005005065

NM_000334.4(SCN4A):c.5171G>A (p.Arg1724Lys)

SNV
Germline

Chr17:63941111

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8708828

rs_539487509

3 SubmittersRCV001222364 RCV003117852 RCV004032441

NM_000334.4(SCN4A):c.749T>G (p.Leu250Arg)

SNV
Germline

Chr17:63968310

Likely pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400637779

rs_1057521065

1 SubmittersRCV001214233

NM_000334.4(SCN4A):c.3145-5C>A

SNV
Germline

Chr17:63948068

Conflicting classifications of pathogenicity

7 conditions
Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA8709365

rs_750109872

4 SubmittersRCV005005073 RCV005241432 RCV001205239

NM_000334.4(SCN4A):c.3394C>T (p.Arg1132Trp)

SNV
Germline

Chr17:63947092

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA8709291

rs_778176181

2 SubmittersRCV003142194 RCV001230572

NM_000334.4(SCN4A):c.2076C>G (p.Ile692Met)

SNV
Germline

Chr17:63957462

Pathogenic/Likely pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

CA400631237

rs_1224997537

2 SubmittersRCV001225646

NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser)

SNV
Germline

Chr17:63941774

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided
6 conditions
not specified
SCN4A-related disorder

Criteria Provided
Conflicting Classifications

CA8708953

rs_114900922

6 SubmittersRCV001242831 RCV001840794 RCV002504346 RCV003987810 RCV004545146

NM_000334.4(SCN4A):c.5229A>G (p.Leu1743=)

SNV
Germline

Chr17:63941053

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA501348015

rs_1908508905

2 SubmittersRCV001289203 RCV001437359

NM_000334.4(SCN4A):c.2377-5C>T

SNV
Germline

Chr17:63951905

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA292964389

rs_560170181

2 SubmittersRCV001288742 RCV005094340

NM_000334.4(SCN4A):c.218C>T (p.Pro73Leu)

SNV
Germline

Chr17:63972624

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided
not specified
7 conditions
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8710253

rs_75086141

6 SubmittersRCV001308968 RCV001786472 RCV001664819 RCV005014388 RCV005732362

NM_000334.4(SCN4A):c.4827C>T (p.Ser1609=)

SNV
Germline

Chr17:63941455

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
7 conditions

Criteria Provided
Conflicting Classifications

CA292956831

rs_376689238

2 SubmittersRCV001337162 RCV005014444

NM_000334.4(SCN4A):c.3394C>G (p.Arg1132Gly)

SNV
Germline

Chr17:63947092

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Hypokalemic periodic paralysis, type 2

Criteria Provided
Conflicting Classifications

CA400619461

rs_778176181

2 SubmittersRCV001343311 RCV006255195

NM_000334.4(SCN4A):c.3539A>T (p.Asn1180Ile)

SNV
Germline

Chr17:63945541

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA400618183

rs_1908688683

2 SubmittersRCV001370561 RCV003127847

NM_000334.4(SCN4A):c.2143G>C (p.Ala715Pro)

SNV
Germline

Chr17:63957395

Pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400630978

rs_749400108

1 SubmittersRCV001370510

NM_000334.4(SCN4A):c.608T>A (p.Met203Lys)

SNV
Germline

Chr17:63971725

Pathogenic

Hyperkalemic periodic paralysis
Congenital myopathy 22B, severe fetal

Criteria Provided
Single Submitter

CA292972679

rs_933258893

2 SubmittersRCV001387955 RCV003227973

NM_000334.4(SCN4A):c.1623C>G (p.His541Gln)

SNV
Germline

Chr17:63961415

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8709766

rs_538390338

2 SubmittersRCV001435830 RCV004656595

NM_000334.4(SCN4A):c.786C>T (p.Ser262=)

SNV
Germline

Chr17:63968273

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided
SCN4A-related disorder

Criteria Provided
Conflicting Classifications

CA8710039

rs_746749167

4 SubmittersRCV001500051 RCV001581160 RCV004533897

NM_000334.4(SCN4A):c.4897C>G (p.Gln1633Glu)

SNV
Germline

Chr17:63941385

Likely pathogenic

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

CA400614588

rs_2144773878

2 SubmittersRCV001663807 RCV003505180

NM_000334.4(SCN4A):c.665G>A (p.Arg222Gln)

SNV
Germline

Chr17:63971200

Pathogenic/Likely pathogenic

Condition: not provided
Hyperkalemic periodic paralysis
Muscular channelopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA292972566

rs_865887222

4 SubmittersRCV001806518 RCV003772220 RCV003994333

NM_000334.4(SCN4A):c.673C>T (p.Arg225Trp)

SNV
Germline

Chr17:63971192

Conflicting classifications of pathogenicity

SCN4A-related non-dystrophic myotonia
Hyperkalemic periodic paralysis
Congenital myopathy 22A, classic
Paramyotonia congenita of Von Eulenburg
7 conditions
Congenital myasthenic syndrome 16
Congenital myopathy 22A, classic
Congenital myopathy 22B, severe fetal

Criteria Provided
Conflicting Classifications

CA8710086

rs_764718003

7 SubmittersRCV002267640 RCV002464491 RCV003227995 RCV003227994 RCV005023264 RCV006249395

NM_000334.4(SCN4A):c.1775C>T (p.Thr592Ile)

SNV
Germline

Chr17:63961263

Pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400633021

rs_2144798676

1 SubmittersRCV001932309

NM_000334.4(SCN4A):c.3696G>A (p.Leu1232=)

SNV
Germline

Chr17:63945384

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA501348599

rs_2144779293

2 SubmittersRCV001952030 RCV003482383

NM_000334.4(SCN4A):c.1762A>G (p.Ile588Val)

SNV
Germline

Chr17:63961276

Likely pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400633106

rs_2144798704

2 SubmittersRCV001976264

NM_000334.4(SCN4A):c.1800C>G (p.Tyr600Ter)

SNV
Germline

Chr17:63961238

Pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400632903

rs_778746718

1 SubmittersRCV001923562

NM_000334.4(SCN4A):c.5290G>A (p.Asp1764Asn)

SNV
Germline

Chr17:63940992

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA400612994

rs_2144773136

2 SubmittersRCV001940893 RCV002560725

NM_000334.4(SCN4A):c.4342C>G (p.Arg1448Gly)

SNV
Germline

Chr17:63941940

Pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400616190

rs_121908544

1 SubmittersRCV002007313

NM_000334.4(SCN4A):c.584G>A (p.Trp195Ter)

SNV
Germline

Chr17:63971749

Pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400638948

rs_1331907655

1 SubmittersRCV001994875

NM_000334.4(SCN4A):c.1249C>T (p.Arg417Ter)

SNV
Germline

Chr17:63964671

Pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA292971029

rs_943370469

1 SubmittersRCV001949486

NM_000334.4(SCN4A):c.2143G>A (p.Ala715Thr)

SNV
Germline

Chr17:63957395

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8709651

rs_749400108

2 SubmittersRCV001904650 RCV004812418

NM_000334.4(SCN4A):c.2500G>A (p.Gly834Ser)

SNV
Germline

Chr17:63951777

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided
6 conditions
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA400626940

rs_899627353

4 SubmittersRCV002038144 RCV003136412 RCV002497962 RCV003250378

NM_000334.4(SCN4A):c.4098C>A (p.Asn1366Lys)

SNV
Germline

Chr17:63943016

Likely pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400616745

rs_1908594231

1 SubmittersRCV002033630

NM_000334.4(SCN4A):c.918G>A (p.Trp306Ter)

SNV
Germline

Chr17:63968141

Pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA8710000

rs_759347899

1 SubmittersRCV002049401

NM_000334.4(SCN4A):c.3442-15C>A

SNV
Germline

Chr17:63945653

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
7 conditions

Criteria Provided
Conflicting Classifications

CA774009507

rs_763401184

2 SubmittersRCV002202529 RCV005017115

NM_000334.4(SCN4A):c.1755C>T (p.Thr585=)

SNV
Germline

Chr17:63961283

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
6 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA501349112

rs_1208231013

3 SubmittersRCV002104061 RCV002494221 RCV004598184

NM_000334.4(SCN4A):c.1326C>A (p.Ile442=)

SNV
Germline

Chr17:63964594

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA501226241

rs_1909376846

2 SubmittersRCV002286098 RCV003097700

NM_000083.3(CLCN1):c.2015G>A (p.Arg672His)

SNV
Germline

Chr7:143345605

Pathogenic

Hyperkalemic periodic paralysis

No Assertion Criteria Provided

CA369649895

rs_777888721

1 SubmittersRCV002306244

NM_000334.4(SCN4A):c.888C>T (p.Ser296=)

SNV
Germline

Chr17:63968171

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA501348863

rs_1290597719

2 SubmittersRCV002475291 RCV003505290

NM_000334.4(SCN4A):c.4382T>C (p.Leu1461Pro)

SNV
Germline

Chr17:63941900

Pathogenic/Likely pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

CA400616127

rs_2144774799

2 SubmittersRCV003041322

NM_000334.4(SCN4A):c.3175C>T (p.Arg1059Ter)

SNV
Germline

Chr17:63948033

Pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA8709358

rs_775244273

1 SubmittersRCV002629991

NM_000334.4(SCN4A):c.2078T>G (p.Ile693Ser)

SNV
Germline

Chr17:63957460

Likely pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400631226

rs_80338956

1 SubmittersRCV002625765

NM_000334.4(SCN4A):c.2937G>A (p.Glu979=)

SNV
Germline

Chr17:63949445

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8709446

rs_763022938

2 SubmittersRCV002654224 RCV005635585

NM_000334.4(SCN4A):c.1037-1G>A

SNV
Germline

Chr17:63966545

Likely pathogenic

Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400636941

rs_1909453191

2 SubmittersRCV002675664 RCV003130739

NM_000334.4(SCN4A):c.4351C>T (p.Arg1451Cys)

SNV
Germline

Chr17:63941931

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
7 conditions

Criteria Provided
Conflicting Classifications

CA8708989

rs_367960721

2 SubmittersRCV002646593 RCV005019309

NM_000334.4(SCN4A):c.1925G>A (p.Trp642Ter)

SNV
Germline

Chr17:63959359

Pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400632031

rs_2509308046

1 SubmittersRCV002780305

NM_000334.4(SCN4A):c.1905C>A (p.Tyr635Ter)

SNV
Germline

Chr17:63959379

Pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400632158

rs_774304336

1 SubmittersRCV002835364

NM_000334.4(SCN4A):c.3403C>T (p.Arg1135Cys)

SNV
Germline

Chr17:63947083

Likely pathogenic

Condition: not provided
Hyperkalemic periodic paralysis
Congenital myopathy 22A, classic

Criteria Provided
Multiple Submitters
No Conflicts

CA400619401

rs_1287863349

3 SubmittersRCV003136482 RCV003505299 RCV004796779

NM_000334.4(SCN4A):c.5172G>A (p.Arg1724=)

SNV
Germline

Chr17:63941110

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

CA501348247

rs_2509283306

2 SubmittersRCV003482859 RCV003615961

NM_000334.4(SCN4A):c.3877G>C (p.Val1293Leu)

SNV
Germline

Chr17:63944708

Likely pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400617290

rs_121908551

1 SubmittersRCV003505432

NM_000334.4(SCN4A):c.1641G>A (p.Trp547Ter)

SNV
Germline

Chr17:63961397

Pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400633955

rs_1555603671

1 SubmittersRCV003505490

NM_000334.4(SCN4A):c.1606+1G>C

SNV
Germline

Chr17:63963671

Likely pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400634399

rs_2509313987

1 SubmittersRCV003506043

NM_000334.4(SCN4A):c.3455C>A (p.Ala1152Asp)

SNV
Germline

Chr17:63945625

Likely pathogenic

Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA400618813

rs_2509291040

2 SubmittersRCV003506304 RCV004999957

NM_000334.4(SCN4A):c.3937A>G (p.Thr1313Ala)

SNV
Germline

Chr17:63943826

Pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400617124

rs_2509287979

1 SubmittersRCV003506587

NM_000334.4(SCN4A):c.4433C>T (p.Ser1478Leu)

SNV
Germline

Chr17:63941849

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8708963

rs_201911612

3 SubmittersRCV003505034 RCV004810022

NM_000334.4(SCN4A):c.1125C>A (p.Cys375Ter)

SNV
Germline

Chr17:63966219

Pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400636446

rs_557322255

1 SubmittersRCV003616069

NM_000334.4(SCN4A):c.1331C>A (p.Ala444Asp)

SNV
Germline

Chr17:63964589

Pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400635025

rs_2509315709

1 SubmittersRCV003616945

NM_000334.4(SCN4A):c.3912+10A>C

SNV
Germline

Chr17:63944663

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
not specified

Criteria Provided
Conflicting Classifications

CA774008674

rs_1482444015

2 SubmittersRCV003830143 RCV005240950

NM_000334.4(SCN4A):c.611+1G>A

SNV
Germline

Chr17:63971721

Likely pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

CA400638825

rs_1358028812

1 SubmittersRCV003880080

NM_000334.4(SCN4A):c.4204C>T (p.Leu1402Phe)

SNV
Germline

Chr17:63942910

Conflicting classifications of pathogenicity

Hyperkalemic periodic paralysis
7 conditions

Criteria Provided
Conflicting Classifications

CA400616494

rs_2509286735

2 SubmittersRCV003990710 RCV005015110

NM_000334.4(SCN4A):c.3636C>T (p.Leu1212=)

SNV
Germline

Chr17:63945444

Conflicting classifications of pathogenicity

7 conditions
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005025975 RCV006489138

NM_000334.4(SCN4A):c.4017+9C>T

SNV
Germline

Chr17:63943737

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004997750 RCV005112495

NM_000334.4(SCN4A):c.3472C>G (p.Pro1158Ala)

SNV
Germline

Chr17:63945608

Pathogenic/Likely pathogenic

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005001556 RCV005112519

NM_000334.4(SCN4A):c.4780A>T (p.Ile1594Phe)

SNV
Germline

Chr17:63941502

Likely pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

1 SubmittersRCV005860928

NM_000334.4(SCN4A):c.746A>G (p.Lys249Arg)

SNV
Germline

Chr17:63968313

Conflicting classifications of pathogenicity

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006437643 RCV006480369

NM_000334.4(SCN4A):c.4097A>G (p.Asn1366Ser)

SNV
Germline

Chr17:63943017

Pathogenic/Likely pathogenic

Condition: not provided
Hyperkalemic periodic paralysis

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006456303 RCV006480447

NM_000334.4(SCN4A):c.3913-2A>G

SNV
Germline

Chr17:63943852

Likely pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

1 SubmittersRCV006512859

NM_000334.4(SCN4A):c.971G>A (p.Trp324Ter)

SNV
Germline

Chr17:63968088

Pathogenic

Hyperkalemic periodic paralysis

Criteria Provided
Single Submitter

1 SubmittersRCV006514538