SCN4A — 1267 ClinVar variants

All ClinVar germline SCN4A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 616 flagged for review →

33 Pathogenic · 13 Pathogenic/Likely pathogenic · 33 Likely pathogenic · 101 Conflicting · 48 Benign · 40 Benign/Likely benign · 343 Likely benign · 656 Uncertain significance

Full SCN4A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 616

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 46

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

SCN4A p.Ala1765Thr Conflicting Single submitter
paramyotonia congenita of Von Eulenburg
SCN4A p.Ala1801Thr Conflicting Single submitter
congenital myasthenic syndrome 16
SCN4A p.Ala340Thr Conflicting Single submitter
congenital myasthenic syndrome 16
SCN4A p.Ala488Thr Conflicting Single submitter
congenital myasthenic syndrome 16
SCN4A p.Arg1021His Conflicting Single submitter
paramyotonia congenita of Von Eulenburg
SCN4A p.Arg1129Gln Conflicting Single submitter
hypokalemic periodic paralysis, type 2
SCN4A p.Arg1408Ser Conflicting Single submitter
congenital myasthenic syndrome 16
SCN4A p.Arg18Ser Conflicting Single submitter
potassium-aggravated myotonia
SCN4A p.Arg225Trp Conflicting Single submitter
hyperkalemic periodic paralysis
SCN4A p.Arg401Cys Conflicting Single submitter
congenital myasthenic syndrome 16
SCN4A p.Arg52Trp Conflicting Single submitter
hyperkalemic periodic paralysis
SCN4A p.Arg669Cys Conflicting Single submitter
hyperkalemic periodic paralysis
SCN4A p.Asn1205Lys Conflicting Single submitter
hyperkalemic periodic paralysis
SCN4A p.Asn507Ser Conflicting Single submitter
potassium-aggravated myotonia
SCN4A p.Asp1764Asn Conflicting Single submitter
hyperkalemic periodic paralysis
SCN4A p.Asp185Asn Conflicting Single submitter
potassium-aggravated myotonia
SCN4A p.Asp334Asn Conflicting Single submitter
congenital myopathy 22B, severe fetal
SCN4A p.Asp532Asn Conflicting Single submitter
paramyotonia congenita of Von Eulenburg
SCN4A p.Cys16Ser Conflicting Single submitter
hyperkalemic periodic paralysis
SCN4A p.Gln1735His Conflicting Single submitter
paramyotonia congenita of Von Eulenburg
SCN4A p.Glu374Lys Conflicting Single submitter
congenital myasthenic syndrome 16
SCN4A p.Glu452Lys Conflicting Single submitter
hyperkalemic periodic paralysis
SCN4A p.Gly1762Arg Conflicting Single submitter
hyperkalemic periodic paralysis
SCN4A p.Gly526Arg Conflicting Single submitter
Inborn genetic diseases
SCN4A p.Gly529Cys Conflicting Single submitter
hyperkalemic periodic paralysis
SCN4A p.His541Gln Conflicting Single submitter
hyperkalemic periodic paralysis
SCN4A p.His599Arg Conflicting Single submitter
paramyotonia congenita of Von Eulenburg
SCN4A p.Ile215Thr Conflicting Single submitter
hyperkalemic periodic paralysis
SCN4A p.Leu443Pro Conflicting Single submitter
hyperkalemic periodic paralysis
SCN4A p.Leu933Val Conflicting Single submitter
Inborn genetic diseases
SCN4A p.Met135Leu Conflicting Single submitter
congenital myasthenic syndrome 16
SCN4A p.Met203Lys Conflicting Single submitter
hyperkalemic periodic paralysis
SCN4A p.Met403Val Conflicting Single submitter
congenital myopathy 22A, classic
SCN4A p.Met855Val Conflicting Single submitter
potassium-aggravated myotonia
SCN4A p.Pro1667Leu Conflicting Single submitter
congenital myasthenic syndrome 16
SCN4A p.Pro71Ser Conflicting Single submitter
hyperkalemic periodic paralysis
SCN4A p.Pro73Leu Conflicting Single submitter
hypokalemic periodic paralysis, type 2
SCN4A p.Pro79Ser Conflicting Single submitter
hyperkalemic periodic paralysis
SCN4A p.Ser1789Leu Conflicting Single submitter
hyperkalemic periodic paralysis
SCN4A p.Trp318Arg Conflicting Single submitter
Inborn genetic diseases
SCN4A p.Trp642Cys Conflicting Single submitter
hypokalemic periodic paralysis, type 2
SCN4A p.Val1350Met Conflicting Single submitter
congenital myasthenic syndrome 16
SCN4A p.Val1401Met Conflicting Single submitter
paramyotonia congenita of Von Eulenburg
SCN4A p.Val146Ile Conflicting Single submitter
hypokalemic periodic paralysis, type 1
SCN4A p.Val445Leu Conflicting Single submitter
hyperkalemic periodic paralysis
SCN4A p.Val730Met Conflicting Single submitter
hyperkalemic periodic paralysis

Predictors lean, ClinVar uncertain 434

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 434

SCN4A p.Ala1465Ser Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Ala1696Thr Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Ala204Val Uncertain significance Multiple submitters
congenital myopathy 22A, classic
SCN4A p.Ala242Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Ala242Thr Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Ala265Glu Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Ala265Val Uncertain significance Multiple submitters
congenital myopathy 22A, classic
SCN4A p.Ala2Val Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Ala32Glu Uncertain significance Multiple submitters
hypokalemic periodic paralysis, type 1
SCN4A p.Ala533Thr Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Arg1022Lys Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Arg122Leu Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Arg1257Trp Uncertain significance Multiple submitters
SCN4A p.Arg1337Trp Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Arg1457Cys Uncertain significance Multiple submitters
paramyotonia congenita of Von Eulenburg
SCN4A p.Arg1652Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Arg1739His Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Arg190Trp Uncertain significance Multiple submitters
potassium-aggravated myotonia
SCN4A p.Arg282Cys Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Arg31Gln Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Arg380Gln Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Arg38Gln Uncertain significance Multiple submitters
potassium-aggravated myotonia
SCN4A p.Arg3Thr Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Arg52Gln Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Arg55Gln Uncertain significance Multiple submitters
congenital myasthenic syndrome 16
SCN4A p.Arg741Cys Uncertain significance Multiple submitters
hypokalemic periodic paralysis, type 1
SCN4A p.Arg756His Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Asn1229Asp Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Asn1299Ile Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Asn1602Ser Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Asn288Ser Uncertain significance Multiple submitters
hypokalemic periodic paralysis, type 1
SCN4A p.Asn291Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Asn355Ser Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Asn63Ser Uncertain significance Multiple submitters
congenital myopathy 22A, classic
SCN4A p.Asp1228Asn Uncertain significance Multiple submitters
congenital myopathy 22A, classic
SCN4A p.Asp1630Asn Uncertain significance Multiple submitters
hypokalemic periodic paralysis, type 1
SCN4A p.Asp1665His Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Asp1678Gly Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Asp1759Asn Uncertain significance Multiple submitters
congenital myopathy 22A, classic
SCN4A p.Asp184Asn Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Asp185Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Asp289Asn Uncertain significance Multiple submitters
hypokalemic periodic paralysis, type 1
SCN4A p.Asp322Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Asp337His Uncertain significance Multiple submitters
hypokalemic periodic paralysis, type 2
SCN4A p.Asp344Asn Uncertain significance Multiple submitters
congenital myopathy 22A, classic
SCN4A p.Asp942Asn Uncertain significance Multiple submitters
congenital myopathy 22A, classic
SCN4A p.Gln405Glu Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Gln514Leu Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Glu1208Gln Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Glu1266Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Glu1520Lys Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Glu452Asp Uncertain significance Multiple submitters
congenital myasthenic syndrome 16
SCN4A p.Glu455Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Glu49Asp Uncertain significance Multiple submitters
potassium-aggravated myotonia
SCN4A p.Glu636Lys Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Glu860Lys Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Glu876Lys Uncertain significance Multiple submitters
congenital myasthenic syndrome 16
SCN4A p.Glu974Lys Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Gly1549Arg Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Gly1569Ser Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Gly1569Val Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Gly1796Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Gly268Ala Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Gly302Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Gly314Ser Uncertain significance Multiple submitters
congenital myopathy 22A, classic
SCN4A p.Gly493Asp Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Gly494Arg Uncertain significance Multiple submitters
congenital myopathy 22A, classic
SCN4A p.Gly515Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Gly515Trp Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Gly518Glu Uncertain significance Multiple submitters
potassium-aggravated myotonia
SCN4A p.Gly529Ser Uncertain significance Multiple submitters
paramyotonia congenita of Von Eulenburg
SCN4A p.Gly641Asp Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Gly641Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Gly69Arg Uncertain significance Multiple submitters
congenital myasthenic syndrome 16
SCN4A p.Gly701Arg Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Gly77Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Gly863Arg Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Gly865Arg Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Gly987Glu Uncertain significance Multiple submitters
congenital myopathy 22A, classic
SCN4A p.Gly99Val Uncertain significance Multiple submitters
SCN4A p.His553Asp Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.His553Gln Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.His605Tyr Uncertain significance Multiple submitters
paramyotonia congenita of Von Eulenburg
SCN4A p.His745Arg Uncertain significance Multiple submitters
potassium-aggravated myotonia
SCN4A p.Ile1104Met Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Ile1279Val Uncertain significance Multiple submitters
potassium-aggravated myotonia
SCN4A p.Ile1394Val Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Ile1597Met Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Ile167Phe Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Ile571Val Uncertain significance Multiple submitters
hypokalemic periodic paralysis, type 1
SCN4A p.Ile648Thr Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Ile67Val Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Ile713Val Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Leu1164Pro Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Leu1235Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Leu1661Pro Uncertain significance Multiple submitters
SCN4A-related disorder
SCN4A p.Leu227Phe Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Leu256Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Leu438Phe Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Lys126Arg Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Lys1403Arg Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Lys1748Arg Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Lys727Arg Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Met1747Val Uncertain significance Multiple submitters
paramyotonia congenita of Von Eulenburg
SCN4A p.Met202Val Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Met203Val Uncertain significance Multiple submitters
SCN4A p.Met254Val Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Met424Val Uncertain significance Multiple submitters
congenital myopathy 22A, classic
SCN4A p.Met448Ile Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Met448Lys Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Met448Val Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Met625Thr Uncertain significance Multiple submitters
paramyotonia congenita of Von Eulenburg
SCN4A p.Met766Thr Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Met855Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Met897Thr Uncertain significance Multiple submitters
hypokalemic periodic paralysis, type 1
SCN4A p.Phe103Val Uncertain significance Multiple submitters
congenital myopathy 22A, classic
SCN4A p.Phe105Leu Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Phe105Ser Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Phe1186Leu Uncertain significance Multiple submitters
hypokalemic periodic paralysis, type 2
SCN4A p.Phe1355Leu Uncertain significance Multiple submitters
potassium-aggravated myotonia
SCN4A p.Phe198Leu Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Phe436Leu Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Phe782Leu Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Phe93Leu Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Pro153Leu Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Pro1670Ser Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Pro192Ser Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Pro286Leu Uncertain significance Multiple submitters
congenital myasthenic syndrome 16
SCN4A p.Pro520Arg Uncertain significance Multiple submitters
congenital myasthenic syndrome 16
SCN4A p.Pro520Leu Uncertain significance Multiple submitters
congenital myasthenic syndrome 16
SCN4A p.Pro546Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Pro563Gln Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Pro563Leu Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Pro578Leu Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Pro740Leu Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Pro79Thr Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Pro990Thr Uncertain significance Multiple submitters
congenital myopathy 22A, classic
SCN4A p.Ser115Gly Uncertain significance Multiple submitters
congenital myopathy 22A, classic
SCN4A p.Ser1211Arg Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Ser1609Arg Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Ser246Leu Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Ser251Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Ser513Leu Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Ser528Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Ser905Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Ser950Thr Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Thr1369Asn Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Thr140Ile Uncertain significance Multiple submitters
paramyotonia congenita of Von Eulenburg
SCN4A p.Thr169Asn Uncertain significance Multiple submitters
congenital myopathy 22A, classic
SCN4A p.Thr1719Asn Uncertain significance Multiple submitters
congenital myopathy 22A, classic

Predictors split 136

The independent predictors disagree with each other — read with care.

SCN4A p.Ala131Glu Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Arg1001His Uncertain significance Multiple submitters
hypokalemic periodic paralysis, type 1
SCN4A p.Arg1058Gln Uncertain significance Multiple submitters
hypokalemic periodic paralysis, type 1
SCN4A p.Arg122His Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Arg1755Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Arg1755His Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Arg179Gln Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Arg18His Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Arg190Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Arg22Trp Uncertain significance Multiple submitters
congenital myasthenic syndrome 16
SCN4A p.Arg282His Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Arg31Trp Uncertain significance Multiple submitters
hypokalemic periodic paralysis, type 1
SCN4A p.Arg380Trp Uncertain significance Multiple submitters
congenital myopathy 22A, classic
SCN4A p.Arg38Trp Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Arg41Trp Uncertain significance Multiple submitters
hypokalemic periodic paralysis, type 1
SCN4A p.Asn214Ser Uncertain significance Multiple submitters
congenital myopathy 22A, classic
SCN4A p.Asp1435His Uncertain significance Multiple submitters
hypokalemic periodic paralysis, type 2
SCN4A p.Asp356Asn Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Asp57Glu Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Asp736Gly Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Gln639His Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Glu1144Lys Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Glu1531Lys Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Glu460Lys Uncertain significance Multiple submitters
hypokalemic periodic paralysis, type 1
SCN4A p.Glu480Gln Uncertain significance Multiple submitters
congenital myasthenic syndrome 16
SCN4A p.Glu49Lys Uncertain significance Multiple submitters
potassium-aggravated myotonia
SCN4A p.Glu51Lys Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Glu536Lys Uncertain significance Multiple submitters
hypokalemic periodic paralysis, type 1
SCN4A p.Gly123Arg Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Gly372Ser Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Gly379Arg Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Gly61Ser Uncertain significance Multiple submitters
congenital myopathy 22A, classic
SCN4A p.Gly827Trp Uncertain significance Multiple submitters
hypokalemic periodic paralysis, type 1
SCN4A p.Ile129Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Ile1310Asn Pathogenic/Likely pathogenic Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Ile1468Val Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Ile28Leu Uncertain significance Multiple submitters
congenital myasthenic syndrome 16
SCN4A p.Ile586Met Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Leu1433Phe Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Leu64Val Uncertain significance Multiple submitters
congenital myopathy 22A, classic
SCN4A p.Leu689Phe Pathogenic/Likely pathogenic Multiple submitters
paramyotonia congenita of Von Eulenburg
SCN4A p.Met1360Ile Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Met1476Val Pathogenic/Likely pathogenic Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Met597Ile Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Phe475Leu Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Phe712Tyr Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Pro19Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Pro19Ser Uncertain significance Multiple submitters
hypokalemic periodic paralysis, type 1
SCN4A p.Pro72Leu Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Trp306Gly Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Val263Ile Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Val281Met Uncertain significance Multiple submitters
Inborn genetic diseases
SCN4A p.Val662Ile Uncertain significance Multiple submitters
hyperkalemic periodic paralysis
SCN4A p.Ala107Thr Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Ala357Val Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Ala447Ser Uncertain significance Single submitter
SCN4A p.Ala459Asp Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Ala623Val Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Ala968Asp Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Arg122Cys Conflicting Single submitter
potassium-aggravated myotonia
SCN4A p.Arg18Cys Conflicting Single submitter
congenital myasthenic syndrome 16
SCN4A p.Arg22Gln Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Arg22Gly Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Arg277Lys Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Asn1570His Uncertain significance Single submitter
SCN4A p.Asn303Lys Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Asn315His Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Asn315Ser Uncertain significance Single submitter
congenital myopathy 22A, classic
SCN4A p.Asn738Tyr Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Asn795Thr Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Asp1554Tyr Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Asp185Val Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Asp932Ala Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Cys560Trp Uncertain significance Single submitter
SCN4A p.Cys998Arg Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Gln469Arg Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Glu1258Lys Uncertain significance Single submitter
paramyotonia congenita of Von Eulenburg
SCN4A p.Glu23Lys Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Glu480Lys Uncertain significance Single submitter
SCN4A p.Glu536Val Uncertain significance Single submitter
congenital myopathy 22A, classic
SCN4A p.Glu604Val Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Glu983Lys Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Gly13Asp Uncertain significance Single submitter
SCN4A p.Gly1464Arg Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Gly379Glu Uncertain significance Single submitter
Inborn genetic diseases
SCN4A p.Ile102Val Uncertain significance Single submitter
SCN4A p.Ile1357Leu Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Ile1425Thr Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Ile1428Val Conflicting Single submitter
congenital myasthenic syndrome 16
SCN4A p.Ile1674Val Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Ile167Val Uncertain significance Single submitter
SCN4A p.Ile230Val Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Ile239Val Likely pathogenic Single submitter
hyperkalemic periodic paralysis
SCN4A p.Ile586Val Uncertain significance Single submitter
Inborn genetic diseases
SCN4A p.Leu250Met Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Leu537Met Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Leu556Phe Uncertain significance Single submitter
congenital myopathy 22A, classic
SCN4A p.Lys249Arg Conflicting Single submitter
hyperkalemic periodic paralysis
SCN4A p.Lys377Arg Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Lys543Asn Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Lys543Met Uncertain significance Single submitter
SCN4A p.Met138Leu Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Met138Val Uncertain significance Single submitter
congenital myopathy 22A, classic
SCN4A p.Met150Val Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Met1592Leu Uncertain significance Single submitter
SCN4A p.Met1747Thr Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Met1776Thr Uncertain significance Single submitter
congenital myopathy 22A, classic
SCN4A p.Met471Ile Conflicting Single submitter
hypokalemic periodic paralysis, type 2
SCN4A p.Met576Ile Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Met632Val Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Phe426Leu Uncertain significance Single submitter
SCN4A p.Phe797Leu Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Pro11Leu Uncertain significance Single submitter
congenital myasthenic syndrome 16
SCN4A p.Pro1550Thr Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Pro19Ala Conflicting Single submitter
hyperkalemic periodic paralysis
SCN4A p.Pro545Ser Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Pro634Ala Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Ser1434Tyr Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Ser151Gly Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Thr165Ile Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Thr229Ala Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Thr323Arg Uncertain significance Single submitter
SCN4A p.Thr391Asn Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Thr457Asn Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Thr611Ile Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Thr967Ile Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Trp156Ser Uncertain significance Single submitter
SCN4A p.Tyr313Cys Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Tyr319Cys Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Tyr600His Uncertain significance Single submitter
Inborn genetic diseases
SCN4A p.Tyr86Cys Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Val1713Leu Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Val200Ile Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Val210Met Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Val575Ile Uncertain significance Single submitter
hyperkalemic periodic paralysis
SCN4A p.Val999Glu Uncertain significance Single submitter
hyperkalemic periodic paralysis

All SCN4A variants

Pathogenic 33

p.Arg1132Gln Multiple submitters Skeletal muscle channelopathy
p.Arg669His Multiple submitters congenital myasthenic syndrome 16
p.Arg672Cys Multiple submitters hypokalemic periodic paralysis, type 2
p.Arg672Gly Multiple submitters hyperkalemic periodic paralysis
p.Arg672His Multiple submitters congenital myasthenic syndrome 16
p.Val445Met Multiple submitters Skeletal muscle channelopathy
c.703+1G>T Single submitter hyperkalemic periodic paralysis
p.Ala444Asp Single submitter hyperkalemic periodic paralysis
p.Arg417Ter Single submitter hyperkalemic periodic paralysis
p.Asn1297Lys Single submitter paramyotonia congenita of Von Eulenburg
p.Asn440Lys Single submitter hyperkalemic periodic paralysis
p.Asp499fs Single submitter hyperkalemic periodic paralysis
p.Cys1209Arg Single submitter congenital myasthenic syndrome 16
p.Cys375Ter Single submitter hyperkalemic periodic paralysis
p.Gln270Lys Single submitter hyperkalemic periodic paralysis
p.Leu1452fs Single submitter hyperkalemic periodic paralysis
p.Pro73fs Single submitter hyperkalemic periodic paralysis
p.Ser5fs Single submitter hyperkalemic periodic paralysis
p.Ser670Tyr Single submitter potassium-aggravated myotonia
p.Thr229fs Single submitter congenital myasthenic syndrome 16
p.Thr592Ile Single submitter hyperkalemic periodic paralysis
p.Trp195Ter Single submitter hyperkalemic periodic paralysis
p.Trp306Ter Single submitter hyperkalemic periodic paralysis
p.Trp324Ter Single submitter hyperkalemic periodic paralysis
p.Trp547Ter Single submitter hyperkalemic periodic paralysis
p.Trp642Ter Single submitter hyperkalemic periodic paralysis
p.Tyr168fs Single submitter hyperkalemic periodic paralysis
p.Tyr349_Phe350insTer Single submitter hyperkalemic periodic paralysis
p.Tyr600Ter Single submitter hyperkalemic periodic paralysis
p.Tyr635Ter Single submitter hyperkalemic periodic paralysis
p.Val429fs Single submitter hyperkalemic periodic paralysis
p.Cys375Arg No assertion criteria congenital myopathy 22A, classic
p.Pro382Thr No assertion criteria congenital myopathy 22B, severe fetal

Pathogenic/Likely pathogenic 13

c.1037-1G>A Multiple submitters hyperkalemic periodic paralysis
p.Arg1142Gln Multiple submitters hyperkalemic periodic paralysis
p.Arg222Gln Multiple submitters muscular channelopathy
p.Arg222Trp Multiple submitters SCN4A-related disorder
p.Arg672Ser Multiple submitters hyperkalemic periodic paralysis
p.Ile1310Asn Multiple submitters hyperkalemic periodic paralysis ⚠
p.Leu250Pro Multiple submitters hyperkalemic periodic paralysis
p.Leu689Phe Multiple submitters paramyotonia congenita of Von Eulenburg ⚠
p.Leu796Val Multiple submitters hyperkalemic periodic paralysis
p.Met1476Val Multiple submitters hyperkalemic periodic paralysis ⚠
p.Phe1705Ile Multiple submitters paramyotonia congenita of Von Eulenburg
p.Phe392fs Multiple submitters hyperkalemic periodic paralysis
p.Thr704Met Multiple submitters Skeletal muscle channelopathy

Likely pathogenic 33

p.Arg1454Trp Multiple submitters congenital myasthenic syndrome 16
p.Gln1633Glu Multiple submitters hyperkalemic periodic paralysis
p.Leu673Pro Multiple submitters arthrogryposis multiplex congenita
c.1452+1G>T Single submitter congenital myopathy 22A, classic
c.1606+1G>C Single submitter hyperkalemic periodic paralysis
c.3774+1G>T Single submitter
c.393-1C>A Single submitter
c.611+1G>A Single submitter hyperkalemic periodic paralysis
p.Arg1448fs Single submitter
p.Arg179Ter Single submitter
p.Asn1366Lys Single submitter hyperkalemic periodic paralysis
p.Cys145Ter Single submitter congenital myasthenic syndrome 16
p.Gln40Ter Single submitter SCN4A-related disorder
p.Gln469Ter Single submitter SCN4A-related disorder
p.Gly1245Ser Single submitter congenital myasthenic syndrome 16
p.Ile141Val Single submitter SCN4A-related disorder
p.Ile239Val Single submitter hyperkalemic periodic paralysis ⚠
p.Ile588Val Single submitter hyperkalemic periodic paralysis
p.Leu250Arg Single submitter hyperkalemic periodic paralysis
p.Leu80fs Single submitter
p.Lys1308fs Single submitter SCN4A-related disorder
p.Phe671Cys Single submitter hyperkalemic periodic paralysis
p.Phe671Leu Single submitter
p.Ser157fs Single submitter SCN4A-related disorder
p.Ser666_Val667dup Single submitter
p.Thr231Met Single submitter Inborn genetic diseases
p.Trp294Ter Single submitter congenital myopathy 22A, classic
p.Trp312Ter Single submitter congenital myopathy 22A, classic
p.Tyr349fs Single submitter congenital myopathy 22A, classic
p.Tyr389fs Single submitter congenital myopathy 22A, classic
p.Tyr958Ter Single submitter
p.Leu703Pro No assertion criteria paramyotonia congenita of Von Eulenburg
p.Thr163fs No assertion criteria potassium-aggravated myotonia

Conflicting classifications of pathogenicity 101

c.1100+15G>A Single submitter potassium-aggravated myotonia
c.1100+7G>A Single submitter Acute rhabdomyolysis
c.1845+7A>C Single submitter congenital myasthenic syndrome 16
c.1846-6C>A Single submitter hyperkalemic periodic paralysis
c.3774+8G>A Single submitter hyperkalemic periodic paralysis
c.393-1C>T Single submitter hypokalemic periodic paralysis, type 1
c.4289-4G>A Single submitter congenital myasthenic syndrome 16
c.483-3dup Single submitter congenital myopathy 22A, classic
c.483-5C>A Single submitter hypokalemic periodic paralysis, type 2
c.483-5C>G Single submitter hyperkalemic periodic paralysis
c.483-5C>T Single submitter hyperkalemic periodic paralysis
c.483-9C>A Single submitter hypokalemic periodic paralysis, type 2
c.703+6G>A Single submitter hyperkalemic periodic paralysis
c.-4G>A Single submitter congenital myasthenic syndrome 16
c.-74G>A Single submitter congenital myasthenic syndrome 16
c.*1324T>C Single submitter potassium-aggravated myotonia
c.*1916C>T Single submitter potassium-aggravated myotonia
c.*2211C>T Single submitter congenital myasthenic syndrome 16
c.*304G>A Single submitter congenital myasthenic syndrome 16
p.Ala1765Thr Single submitter paramyotonia congenita of Von Eulenburg ⚠
p.Ala1801Thr Single submitter congenital myasthenic syndrome 16 ⚠
p.Ala340Thr Single submitter congenital myasthenic syndrome 16 ⚠
p.Ala488Thr Single submitter congenital myasthenic syndrome 16 ⚠
p.Arg1021His Single submitter paramyotonia congenita of Von Eulenburg ⚠
p.Arg1129Gln Single submitter hypokalemic periodic paralysis, type 2 ⚠
p.Arg1142Ter Single submitter myopathy
p.Arg122Cys Single submitter potassium-aggravated myotonia ⚠
p.Arg1408Ser Single submitter congenital myasthenic syndrome 16 ⚠
p.Arg18Cys Single submitter congenital myasthenic syndrome 16 ⚠
p.Arg18Ser Single submitter potassium-aggravated myotonia ⚠
p.Arg225Trp Single submitter hyperkalemic periodic paralysis ⚠
p.Arg401Cys Single submitter congenital myasthenic syndrome 16 ⚠
p.Arg52Trp Single submitter hyperkalemic periodic paralysis ⚠
p.Arg669Cys Single submitter hyperkalemic periodic paralysis ⚠
p.Asn1205Lys Single submitter hyperkalemic periodic paralysis ⚠
p.Asn333= Single submitter congenital myasthenic syndrome 16
p.Asn507Ser Single submitter potassium-aggravated myotonia ⚠
p.Asp1375= Single submitter hypokalemic periodic paralysis, type 2
p.Asp1764Asn Single submitter hyperkalemic periodic paralysis ⚠
p.Asp185Asn Single submitter potassium-aggravated myotonia ⚠
p.Asp334Asn Single submitter congenital myopathy 22B, severe fetal ⚠
p.Asp337= Single submitter hypokalemic periodic paralysis, type 2
p.Asp532Asn Single submitter paramyotonia congenita of Von Eulenburg ⚠
p.Cys16Ser Single submitter hyperkalemic periodic paralysis ⚠
p.Cys551= Single submitter hypokalemic periodic paralysis, type 2
p.Gln1301del Single submitter hyperkalemic periodic paralysis
p.Gln1735His Single submitter paramyotonia congenita of Von Eulenburg ⚠
p.Glu15= Single submitter congenital myasthenic syndrome 16
p.Glu374Lys Single submitter congenital myasthenic syndrome 16 ⚠
p.Glu452Lys Single submitter hyperkalemic periodic paralysis ⚠
p.Gly1762Arg Single submitter hyperkalemic periodic paralysis ⚠
p.Gly526Arg Single submitter Inborn genetic diseases ⚠
p.Gly529Cys Single submitter hyperkalemic periodic paralysis ⚠
p.His541Gln Single submitter hyperkalemic periodic paralysis ⚠
p.His599Arg Single submitter paramyotonia congenita of Von Eulenburg ⚠
p.Ile1361= Single submitter paramyotonia congenita of Von Eulenburg
p.Ile1428Val Single submitter congenital myasthenic syndrome 16 ⚠
p.Ile215Thr Single submitter hyperkalemic periodic paralysis ⚠
p.Ile442= Single submitter hyperkalemic periodic paralysis
p.Ile826= Single submitter paramyotonia congenita of Von Eulenburg
p.Leu1212= Single submitter hyperkalemic periodic paralysis
p.Leu1472= Single submitter hyperkalemic periodic paralysis
p.Leu443Pro Single submitter hyperkalemic periodic paralysis ⚠
p.Leu933Val Single submitter Inborn genetic diseases ⚠
p.Lys249Arg Single submitter hyperkalemic periodic paralysis ⚠
p.Met135Leu Single submitter congenital myasthenic syndrome 16 ⚠
p.Met203Lys Single submitter hyperkalemic periodic paralysis ⚠
p.Met403Val Single submitter congenital myopathy 22A, classic ⚠
p.Met471Ile Single submitter hypokalemic periodic paralysis, type 2 ⚠
p.Met855Val Single submitter potassium-aggravated myotonia ⚠
p.Phe1143= Single submitter congenital myasthenic syndrome 16
p.Phe427= Single submitter paramyotonia congenita of Von Eulenburg
p.Pro1667Leu Single submitter congenital myasthenic syndrome 16 ⚠
p.Pro19Ala Single submitter hyperkalemic periodic paralysis ⚠
p.Pro286= Single submitter congenital myasthenic syndrome 16
p.Pro634= Single submitter hyperkalemic periodic paralysis
p.Pro71Ser Single submitter hyperkalemic periodic paralysis ⚠
p.Pro73= Single submitter congenital myasthenic syndrome 16
p.Pro73Leu Single submitter hypokalemic periodic paralysis, type 2 ⚠
p.Pro79Ser Single submitter hyperkalemic periodic paralysis ⚠
p.Pro882= Single submitter paramyotonia congenita of Von Eulenburg
p.Ser1120= Single submitter hyperkalemic periodic paralysis
p.Ser118= Single submitter paramyotonia congenita of Von Eulenburg
p.Ser1548= Single submitter congenital myasthenic syndrome 16
p.Ser1789Leu Single submitter hyperkalemic periodic paralysis ⚠
p.Ser262= Single submitter hyperkalemic periodic paralysis
p.Ser296= Single submitter hyperkalemic periodic paralysis
p.Ser317= Single submitter paramyotonia congenita of Von Eulenburg
p.Ser525= Single submitter paramyotonia congenita of Von Eulenburg
p.Thr585= Single submitter congenital myasthenic syndrome 16
p.Trp318Arg Single submitter Inborn genetic diseases ⚠
p.Trp642Cys Single submitter hypokalemic periodic paralysis, type 2 ⚠
p.Tyr1621= Single submitter potassium-aggravated myotonia
p.Val1350Met Single submitter congenital myasthenic syndrome 16 ⚠
p.Val1372= Single submitter congenital myopathy 22A, classic
p.Val1401Met Single submitter paramyotonia congenita of Von Eulenburg ⚠
p.Val146Ile Single submitter hypokalemic periodic paralysis, type 1 ⚠
p.Val445Leu Single submitter hyperkalemic periodic paralysis ⚠
p.Val446= Single submitter hyperkalemic periodic paralysis
p.Val730Met Single submitter hyperkalemic periodic paralysis ⚠
p.Val999Met Single submitter limb-girdle muscular dystrophy

Benign 48

c.1037-112G>A Multiple submitters
c.1100+115T>G Multiple submitters
c.1100+83C>G Multiple submitters
c.1243-41A>G Multiple submitters
c.1453-132C>A Multiple submitters
c.1453-23C>T Multiple submitters
c.1607-339A>G Multiple submitters
c.1845+12C>G Multiple submitters hyperkalemic periodic paralysis
c.1845+18A>G Multiple submitters hyperkalemic periodic paralysis
c.1845+7A>G Multiple submitters
c.2020-49G>A Multiple submitters
c.2376+43G>A Multiple submitters
c.3913-164G>A Multiple submitters
c.483-25T>C Multiple submitters
c.612-94G>A Multiple submitters
c.703+55T>C Multiple submitters
c.-240G>C Multiple submitters
c.-312G>A Multiple submitters
c.-327A>G Multiple submitters
c.-33C>T Multiple submitters hypokalemic periodic paralysis, type 2
c.*22A>G Multiple submitters hypokalemic periodic paralysis, type 2
p.Ala1253= Multiple submitters congenital myasthenic syndrome 16
p.Ala1801= Multiple submitters congenital myasthenic syndrome 16
p.Ala242= Multiple submitters hypokalemic periodic paralysis, type 2
p.Arg31Leu Multiple submitters hypokalemic periodic paralysis, type 2
p.Asn288= Multiple submitters congenital myasthenic syndrome 16
p.Ile763= Multiple submitters congenital myasthenic syndrome 16
p.Met135Thr Multiple submitters hyperkalemic periodic paralysis
p.Pro973= Multiple submitters congenital myasthenic syndrome 16
p.Thr163= Multiple submitters congenital myasthenic syndrome 16
p.Tyr389= Multiple submitters paramyotonia congenita of Von Eulenburg
c.1036+11G>A Single submitter hyperkalemic periodic paralysis
c.1036+75dup Single submitter
c.1036+89del Single submitter
c.1037-291A>G Single submitter
c.1037-304T>C Single submitter
c.1242+105G>C Single submitter
c.1242+247T>C Single submitter
c.1452+224T>C Single submitter
c.1452+260C>T Single submitter
c.1452+270C>A Single submitter
c.1845+166del Single submitter
c.1845+319G>C Single submitter
c.273+17G>C Single submitter hyperkalemic periodic paralysis
c.483-3del Single submitter hyperkalemic periodic paralysis
c.611+11del Single submitter hyperkalemic periodic paralysis
c.612-119C>T Single submitter
c.*1611A>G Single submitter potassium-aggravated myotonia

Benign/Likely benign 40

c.1453-4A>G Multiple submitters hyperkalemic periodic paralysis
c.1606+20G>A Multiple submitters paramyotonia congenita of Von Eulenburg
c.1607-17T>C Multiple submitters hyperkalemic periodic paralysis
c.2377-17del Multiple submitters hyperkalemic periodic paralysis
c.3441+7G>A Multiple submitters hypokalemic periodic paralysis, type 1
c.3720+10A>G Multiple submitters congenital myasthenic syndrome 16
c.3720+9G>T Multiple submitters paramyotonia congenita of Von Eulenburg
c.3774+7C>T Multiple submitters hyperkalemic periodic paralysis
c.483-9C>T Multiple submitters hyperkalemic periodic paralysis
c.612-17del Multiple submitters hyperkalemic periodic paralysis
c.612-18C>A Multiple submitters hyperkalemic periodic paralysis
c.*1088A>G Multiple submitters congenital myasthenic syndrome 16
c.*1215G>A Multiple submitters congenital myasthenic syndrome 16
c.*1368G>C Multiple submitters paramyotonia congenita of Von Eulenburg
p.Arg122= Multiple submitters hypokalemic periodic paralysis, type 2
p.Asn321= Multiple submitters hyperkalemic periodic paralysis
p.Glu81Gln Multiple submitters congenital myasthenic syndrome 16
p.Gly641= Multiple submitters hypokalemic periodic paralysis, type 1
p.Ile1009= Multiple submitters hyperkalemic periodic paralysis
p.Ile430Val Multiple submitters congenital myasthenic syndrome 16
p.Ile570= Multiple submitters hyperkalemic periodic paralysis
p.Ile94= Multiple submitters hyperkalemic periodic paralysis
p.Leu83Pro Multiple submitters hyperkalemic periodic paralysis
p.Leu899= Multiple submitters congenital myasthenic syndrome 16
p.Lys477Arg Multiple submitters potassium-aggravated myotonia
p.Phe645= Multiple submitters hypokalemic periodic paralysis, type 2
p.Pro1650= Multiple submitters hyperkalemic periodic paralysis
p.Ser106= Multiple submitters hyperkalemic periodic paralysis
p.Ser1535= Multiple submitters hyperkalemic periodic paralysis
p.Ser246= Multiple submitters hyperkalemic periodic paralysis
p.Ser524Gly Multiple submitters congenital myasthenic syndrome 16
p.Thr1470= Multiple submitters hyperkalemic periodic paralysis
p.Thr1623= Multiple submitters congenital myasthenic syndrome 16
p.Thr323= Multiple submitters hyperkalemic periodic paralysis
p.Thr323Met Multiple submitters congenital myasthenic syndrome 16
p.Tyr301= Multiple submitters hyperkalemic periodic paralysis
p.Tyr313= Multiple submitters congenital myasthenic syndrome 16
p.Tyr600= Multiple submitters hyperkalemic periodic paralysis
p.Tyr68= Multiple submitters potassium-aggravated myotonia
p.Val119Ile Multiple submitters hyperkalemic periodic paralysis

Likely benign 343

Showing the top 300 by review status; the full set is in the sitemap.

c.1101-16C>T Multiple submitters hyperkalemic periodic paralysis
c.1242+15A>C Multiple submitters hyperkalemic periodic paralysis
c.1242+9del Multiple submitters
c.1606+10T>C Multiple submitters hyperkalemic periodic paralysis
c.1607-20T>C Multiple submitters hypokalemic periodic paralysis, type 1
c.1845+11G>T Multiple submitters hyperkalemic periodic paralysis
c.1845+12del Multiple submitters hyperkalemic periodic paralysis
c.1845+18A>T Multiple submitters hyperkalemic periodic paralysis
c.1845+57C>T Multiple submitters
c.2376+10G>A Multiple submitters hyperkalemic periodic paralysis
c.273+17G>T Multiple submitters hyperkalemic periodic paralysis
c.273+19T>G Multiple submitters hyperkalemic periodic paralysis
c.273+7G>A Multiple submitters hyperkalemic periodic paralysis
c.2853+8G>A Multiple submitters hyperkalemic periodic paralysis
c.2854-19G>A Multiple submitters hyperkalemic periodic paralysis
c.2990-4T>A Multiple submitters hyperkalemic periodic paralysis
c.2990-8C>T Multiple submitters hyperkalemic periodic paralysis
c.3442-18G>T Multiple submitters hyperkalemic periodic paralysis
c.3774+9G>A Multiple submitters hyperkalemic periodic paralysis
c.3912+91G>A Multiple submitters
c.393-6C>A Multiple submitters hyperkalemic periodic paralysis
c.4288+7G>C Multiple submitters hyperkalemic periodic paralysis
c.483-4C>G Multiple submitters potassium-aggravated myotonia
c.483-7C>T Multiple submitters congenital myasthenic syndrome 16
c.612-19C>G Multiple submitters hyperkalemic periodic paralysis
c.704-6G>C Multiple submitters hyperkalemic periodic paralysis
c.704-8G>A Multiple submitters hyperkalemic periodic paralysis
p.Ala1536= Multiple submitters hyperkalemic periodic paralysis
p.Ala226= Multiple submitters hyperkalemic periodic paralysis
p.Ala487= Multiple submitters hyperkalemic periodic paralysis
p.Arg18= Multiple submitters hyperkalemic periodic paralysis
p.Arg55= Multiple submitters hyperkalemic periodic paralysis
p.Asn1321= Multiple submitters hyperkalemic periodic paralysis
p.Asn895= Multiple submitters hyperkalemic periodic paralysis
p.Asp339= Multiple submitters hypokalemic periodic paralysis, type 1
p.Asp390= Multiple submitters hyperkalemic periodic paralysis
p.Glu986= Multiple submitters congenital myasthenic syndrome 16
p.Gly1155= Multiple submitters hyperkalemic periodic paralysis
p.His1726= Multiple submitters hyperkalemic periodic paralysis
p.Ile710= Multiple submitters hyperkalemic periodic paralysis
p.Ile76= Multiple submitters congenital myasthenic syndrome 16
p.Leu1103= Multiple submitters hyperkalemic periodic paralysis
p.Leu721= Multiple submitters hyperkalemic periodic paralysis
p.Leu858= Multiple submitters hyperkalemic periodic paralysis
p.Met150Leu Multiple submitters hypokalemic periodic paralysis, type 2
p.Met1808Ile Multiple submitters hyperkalemic periodic paralysis
p.Pro1792= Multiple submitters hyperkalemic periodic paralysis
p.Pro285= Multiple submitters hyperkalemic periodic paralysis
p.Pro520= Multiple submitters congenital myasthenic syndrome 16
p.Ser1175= Multiple submitters hyperkalemic periodic paralysis
p.Ser531= Multiple submitters hyperkalemic periodic paralysis
p.Ser813= Multiple submitters hyperkalemic periodic paralysis
p.Ser945= Multiple submitters
p.Ser963= Multiple submitters hyperkalemic periodic paralysis
p.Thr305= Multiple submitters hyperkalemic periodic paralysis
p.Tyr1087= Multiple submitters hyperkalemic periodic paralysis
p.Tyr407= Multiple submitters hyperkalemic periodic paralysis
p.Val754= Multiple submitters hyperkalemic periodic paralysis
c.1036+12_1036+23del Single submitter hyperkalemic periodic paralysis
c.1036+13A>G Single submitter hyperkalemic periodic paralysis
c.1036+16G>A Single submitter hyperkalemic periodic paralysis
c.1036+197C>T Single submitter
c.1036+20C>T Single submitter hyperkalemic periodic paralysis
c.1036+84_1036+85insG Single submitter
c.1036+8T>C Single submitter hyperkalemic periodic paralysis
c.1037-156G>A Single submitter
c.1037-17G>A Single submitter hyperkalemic periodic paralysis
c.1037-6C>T Single submitter hyperkalemic periodic paralysis
c.1100+10del Single submitter hyperkalemic periodic paralysis
c.1100+15G>C Single submitter hyperkalemic periodic paralysis
c.1101-13G>A Single submitter
c.1101-13G>C Single submitter hyperkalemic periodic paralysis
c.1242+20G>A Single submitter hyperkalemic periodic paralysis
c.1242+7_1242+18del Single submitter hyperkalemic periodic paralysis
c.1243-10C>A Single submitter hyperkalemic periodic paralysis
c.1243-17_1243-3del Single submitter hyperkalemic periodic paralysis
c.1243-17_1243-3dup Single submitter hyperkalemic periodic paralysis
c.1243-5C>A Single submitter hyperkalemic periodic paralysis
c.1243-7C>T Single submitter hyperkalemic periodic paralysis
c.1243-9C>T Single submitter hyperkalemic periodic paralysis
c.1452+19G>A Single submitter hyperkalemic periodic paralysis
c.1452+8C>A Single submitter
c.1453-8G>T Single submitter hyperkalemic periodic paralysis
c.1606+10_1606+94del Single submitter hyperkalemic periodic paralysis
c.1606+15C>T Single submitter hyperkalemic periodic paralysis
c.1606+16C>A Single submitter hyperkalemic periodic paralysis
c.1606+16C>T Single submitter hyperkalemic periodic paralysis
c.1606+17C>G Single submitter hyperkalemic periodic paralysis
c.1606+20G>T Single submitter hyperkalemic periodic paralysis
c.1606+236A>G Single submitter
c.1606+254C>G Single submitter
c.1606+54C>G Single submitter
c.1606+7G>T Single submitter hyperkalemic periodic paralysis
c.1606+8C>A Single submitter hyperkalemic periodic paralysis
c.1607-19G>A Single submitter hyperkalemic periodic paralysis
c.1607-9C>G Single submitter hyperkalemic periodic paralysis
c.1845+11G>A Single submitter hyperkalemic periodic paralysis
c.1845+14G>A Single submitter hyperkalemic periodic paralysis
c.1845+16G>A Single submitter hyperkalemic periodic paralysis
c.1845+17G>A Single submitter hyperkalemic periodic paralysis
c.1845+18A>C Single submitter hyperkalemic periodic paralysis
c.1845+7A>T Single submitter hyperkalemic periodic paralysis
c.1846-14A>G Single submitter hyperkalemic periodic paralysis
c.1846-19G>T Single submitter hyperkalemic periodic paralysis
c.1846-275C>T Single submitter
c.2019+10del Single submitter hyperkalemic periodic paralysis
c.2019+13C>A Single submitter hyperkalemic periodic paralysis
c.2019+13C>T Single submitter hyperkalemic periodic paralysis
c.2019+188C>T Single submitter
c.2019+8A>G Single submitter hyperkalemic periodic paralysis
c.2377-10C>G Single submitter hyperkalemic periodic paralysis
c.273+17G>A Single submitter hyperkalemic periodic paralysis
c.273+18C>T Single submitter hyperkalemic periodic paralysis
c.273+8C>A Single submitter hyperkalemic periodic paralysis
c.274-17C>T Single submitter hyperkalemic periodic paralysis
c.274-30C>G Single submitter
c.2854-9C>A Single submitter hyperkalemic periodic paralysis
c.2854-9C>T Single submitter hyperkalemic periodic paralysis
c.2989+18C>G Single submitter hyperkalemic periodic paralysis
c.2990-15C>T Single submitter hyperkalemic periodic paralysis
c.3145-7C>T Single submitter hyperkalemic periodic paralysis
c.3318+18G>A Single submitter hyperkalemic periodic paralysis
c.3319-12C>T Single submitter hyperkalemic periodic paralysis
c.3441+16G>A Single submitter hyperkalemic periodic paralysis
c.3442-12C>T Single submitter hyperkalemic periodic paralysis
c.3720+20C>T Single submitter hyperkalemic periodic paralysis
c.3775-5C>T Single submitter hyperkalemic periodic paralysis
c.3913-20C>T Single submitter hyperkalemic periodic paralysis
c.392+10C>A Single submitter hyperkalemic periodic paralysis
c.392+17G>A Single submitter hyperkalemic periodic paralysis
c.393-20T>C Single submitter hyperkalemic periodic paralysis
c.393-20T>G Single submitter hyperkalemic periodic paralysis
c.393-4C>A Single submitter hyperkalemic periodic paralysis
c.393-6C>T Single submitter hyperkalemic periodic paralysis
c.4017+20C>T Single submitter hyperkalemic periodic paralysis
c.4017+8C>T Single submitter hyperkalemic periodic paralysis
c.4018-16C>G Single submitter hyperkalemic periodic paralysis
c.4288+15C>A Single submitter hyperkalemic periodic paralysis
c.4288+8G>A Single submitter hyperkalemic periodic paralysis
c.482+10C>T Single submitter hyperkalemic periodic paralysis
c.483-16G>A Single submitter hyperkalemic periodic paralysis
c.483-18C>T Single submitter hyperkalemic periodic paralysis
c.483-20G>A Single submitter hyperkalemic periodic paralysis
c.483-21G>A Single submitter
c.483-4C>T Single submitter hyperkalemic periodic paralysis
c.483-8C>T Single submitter hyperkalemic periodic paralysis
c.611+10G>A Single submitter hyperkalemic periodic paralysis
c.611+12C>T Single submitter hyperkalemic periodic paralysis
c.611+15C>T Single submitter hyperkalemic periodic paralysis
c.611+16_611+24del Single submitter hyperkalemic periodic paralysis
c.611+19A>G Single submitter hyperkalemic periodic paralysis
c.611+7A>G Single submitter
c.611+9G>A Single submitter hyperkalemic periodic paralysis
c.612-11C>T Single submitter hyperkalemic periodic paralysis
c.612-15C>A Single submitter hyperkalemic periodic paralysis
c.612-17C>T Single submitter hyperkalemic periodic paralysis
c.612-18C>G Single submitter hyperkalemic periodic paralysis
c.612-18C>T Single submitter hyperkalemic periodic paralysis
c.612-19C>A Single submitter hyperkalemic periodic paralysis
c.612-20C>T Single submitter hyperkalemic periodic paralysis
c.612-5C>A Single submitter hyperkalemic periodic paralysis
c.612-7T>C Single submitter
c.612-8C>T Single submitter hyperkalemic periodic paralysis
c.612-9C>G Single submitter hyperkalemic periodic paralysis
c.612-9C>T Single submitter hyperkalemic periodic paralysis
c.703+18G>A Single submitter hyperkalemic periodic paralysis
c.703+18G>T Single submitter hyperkalemic periodic paralysis
c.703+8G>A Single submitter hyperkalemic periodic paralysis
c.703+9G>A Single submitter hyperkalemic periodic paralysis
c.704-10C>T Single submitter hyperkalemic periodic paralysis
c.704-11T>C Single submitter hyperkalemic periodic paralysis
c.704-12C>G Single submitter hyperkalemic periodic paralysis
c.704-7C>T Single submitter hyperkalemic periodic paralysis
c.*1C>T Single submitter congenital myopathy 22A, classic
p.Ala107= Single submitter hyperkalemic periodic paralysis
p.Ala1773= Single submitter hyperkalemic periodic paralysis
p.Ala265= Single submitter hyperkalemic periodic paralysis
p.Ala32= Single submitter hyperkalemic periodic paralysis
p.Ala37= Single submitter hyperkalemic periodic paralysis
p.Ala418= Single submitter hyperkalemic periodic paralysis
p.Ala444= Single submitter hyperkalemic periodic paralysis
p.Ala451= Single submitter hyperkalemic periodic paralysis
p.Ala459= Single submitter hyperkalemic periodic paralysis
p.Ala60= Single submitter
p.Ala699= Single submitter hyperkalemic periodic paralysis
p.Ala870= Single submitter hyperkalemic periodic paralysis
p.Arg1463= Single submitter hyperkalemic periodic paralysis
p.Arg1736= Single submitter hyperkalemic periodic paralysis
p.Arg38= Single submitter hyperkalemic periodic paralysis
p.Arg41= Single submitter hyperkalemic periodic paralysis
p.Arg672= Single submitter hyperkalemic periodic paralysis
p.Asn1151= Single submitter hyperkalemic periodic paralysis
p.Asn1229= Single submitter hyperkalemic periodic paralysis
p.Asn1389= Single submitter hyperkalemic periodic paralysis
p.Asn325= Single submitter hyperkalemic periodic paralysis
p.Asn355= Single submitter hyperkalemic periodic paralysis
p.Asn643= Single submitter hyperkalemic periodic paralysis
p.Asn661= Single submitter hyperkalemic periodic paralysis
p.Asn97= Single submitter hyperkalemic periodic paralysis
p.Asp1420= Single submitter
p.Asp1515= Single submitter hyperkalemic periodic paralysis
p.Asp152= Single submitter hyperkalemic periodic paralysis
p.Asp1539= Single submitter hyperkalemic periodic paralysis
p.Asp1814= Single submitter hyperkalemic periodic paralysis
p.Asp184= Single submitter hyperkalemic periodic paralysis
p.Asp185= Single submitter hyperkalemic periodic paralysis
p.Asp211= Single submitter hyperkalemic periodic paralysis
p.Asp316= Single submitter hyperkalemic periodic paralysis
p.Asp344= Single submitter hyperkalemic periodic paralysis
p.Asp356= Single submitter
p.Asp532= Single submitter hyperkalemic periodic paralysis
p.Asp57= Single submitter hyperkalemic periodic paralysis
p.Asp862= Single submitter hyperkalemic periodic paralysis
p.Cys145= Single submitter hyperkalemic periodic paralysis
p.Cys16= Single submitter hyperkalemic periodic paralysis
p.Cys280= Single submitter hyperkalemic periodic paralysis
p.Cys360= Single submitter hyperkalemic periodic paralysis
p.Cys375= Single submitter hyperkalemic periodic paralysis
p.Cys561= Single submitter hyperkalemic periodic paralysis
p.Gln1217= Single submitter hyperkalemic periodic paralysis
p.Gln270= Single submitter hyperkalemic periodic paralysis
p.Gln278= Single submitter hyperkalemic periodic paralysis
p.Gln823= Single submitter hyperkalemic periodic paralysis
p.Glu1558= Single submitter hyperkalemic periodic paralysis
p.Glu29= Single submitter hyperkalemic periodic paralysis
p.Glu371= Single submitter hyperkalemic periodic paralysis
p.Glu495= Single submitter hyperkalemic periodic paralysis
p.Glu991= Single submitter hyperkalemic periodic paralysis
p.Gly13= Single submitter hyperkalemic periodic paralysis
p.Gly1398= Single submitter hyperkalemic periodic paralysis
p.Gly1486= Single submitter hyperkalemic periodic paralysis
p.Gly1500= Single submitter hyperkalemic periodic paralysis
p.Gly166= Single submitter hyperkalemic periodic paralysis
p.Gly1785= Single submitter hyperkalemic periodic paralysis
p.Gly1824= Single submitter hyperkalemic periodic paralysis
p.Gly241= Single submitter hyperkalemic periodic paralysis
p.Gly268= Single submitter hyperkalemic periodic paralysis
p.Gly302= Single submitter hyperkalemic periodic paralysis
p.Gly346= Single submitter
p.Gly379= Single submitter hyperkalemic periodic paralysis
p.Gly61= Single submitter hyperkalemic periodic paralysis
p.His478Gln Single submitter Inborn genetic diseases
p.His502= Single submitter hyperkalemic periodic paralysis
p.Ile1249= Single submitter hyperkalemic periodic paralysis
p.Ile1277= Single submitter hyperkalemic periodic paralysis
p.Ile1594= Single submitter hyperkalemic periodic paralysis
p.Ile174= Single submitter hyperkalemic periodic paralysis
p.Ile239= Single submitter hyperkalemic periodic paralysis
p.Ile425= Single submitter hyperkalemic periodic paralysis
p.Ile431= Single submitter hyperkalemic periodic paralysis
p.Ile530= Single submitter hyperkalemic periodic paralysis
p.Ile574= Single submitter hyperkalemic periodic paralysis
p.Ile649= Single submitter hyperkalemic periodic paralysis
p.Leu1020= Single submitter hyperkalemic periodic paralysis
p.Leu1100= Single submitter hyperkalemic periodic paralysis
p.Leu113= Single submitter hyperkalemic periodic paralysis
p.Leu12= Single submitter
p.Leu132= Single submitter hyperkalemic periodic paralysis
p.Leu177= Single submitter hyperkalemic periodic paralysis
p.Leu218= Single submitter hyperkalemic periodic paralysis
p.Leu236= Single submitter hyperkalemic periodic paralysis
p.Leu25= Single submitter hyperkalemic periodic paralysis
p.Leu256= Single submitter hyperkalemic periodic paralysis
p.Leu441= Single submitter hyperkalemic periodic paralysis
p.Leu443= Single submitter hyperkalemic periodic paralysis
p.Leu491= Single submitter
p.Leu565= Single submitter hyperkalemic periodic paralysis
p.Leu58= Single submitter
p.Leu659= Single submitter hyperkalemic periodic paralysis
p.Leu665= Single submitter hyperkalemic periodic paralysis
p.Leu689= Single submitter hyperkalemic periodic paralysis
p.Leu703= Single submitter hyperkalemic periodic paralysis
p.Leu80= Single submitter hyperkalemic periodic paralysis
p.Lys1508= Single submitter hyperkalemic periodic paralysis
p.Lys1723= Single submitter hyperkalemic periodic paralysis
p.Lys550= Single submitter
p.Lys830= Single submitter hyperkalemic periodic paralysis
p.Phe264= Single submitter hyperkalemic periodic paralysis
p.Phe336= Single submitter hyperkalemic periodic paralysis
p.Phe400= Single submitter hyperkalemic periodic paralysis
p.Phe426= Single submitter hyperkalemic periodic paralysis
p.Phe475= Single submitter hyperkalemic periodic paralysis
p.Phe805= Single submitter hyperkalemic periodic paralysis
p.Phe944= Single submitter hyperkalemic periodic paralysis
p.Pro153= Single submitter hyperkalemic periodic paralysis
p.Pro1551= Single submitter hyperkalemic periodic paralysis
p.Pro1611= Single submitter hyperkalemic periodic paralysis
p.Pro1710= Single submitter hyperkalemic periodic paralysis
p.Pro1812= Single submitter hyperkalemic periodic paralysis
p.Pro50= Single submitter hyperkalemic periodic paralysis
p.Pro500= Single submitter hyperkalemic periodic paralysis
p.Pro545= Single submitter hyperkalemic periodic paralysis
p.Pro546= Single submitter hyperkalemic periodic paralysis
p.Pro578= Single submitter hyperkalemic periodic paralysis
p.Pro71= Single submitter hyperkalemic periodic paralysis
p.Pro72= Single submitter hyperkalemic periodic paralysis
p.Pro79= Single submitter hyperkalemic periodic paralysis
p.Ser1010= Single submitter hyperkalemic periodic paralysis
p.Ser115= Single submitter hyperkalemic periodic paralysis
p.Ser1572= Single submitter hyperkalemic periodic paralysis

Uncertain significance 656

Showing the top 300 by review status; the full set is in the sitemap.

c.1242+6G>T Multiple submitters congenital myopathy 22A, classic
c.1606+3G>T Multiple submitters paramyotonia congenita of Von Eulenburg
c.2019+5A>G Multiple submitters hyperkalemic periodic paralysis
c.483-3C>G Multiple submitters SCN4A-related myopathy, autosomal recessive
c.703+3A>T Multiple submitters hyperkalemic periodic paralysis
c.704-6G>A Multiple submitters hyperkalemic periodic paralysis
c.-67G>A Multiple submitters paramyotonia congenita of Von Eulenburg
p.298_303DTWYGN[1] Multiple submitters congenital myopathy 22B, severe fetal
p.Ala131Glu Multiple submitters hyperkalemic periodic paralysis ⚠
p.Ala1465Ser Multiple submitters hyperkalemic periodic paralysis ⚠
p.Ala1696Thr Multiple submitters hyperkalemic periodic paralysis ⚠
p.Ala204Val Multiple submitters congenital myopathy 22A, classic ⚠
p.Ala242Asn Multiple submitters
p.Ala242Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala242Thr Multiple submitters hyperkalemic periodic paralysis ⚠
p.Ala265Glu Multiple submitters hyperkalemic periodic paralysis ⚠
p.Ala265Val Multiple submitters congenital myopathy 22A, classic ⚠
p.Ala2Val Multiple submitters hyperkalemic periodic paralysis ⚠
p.Ala32Glu Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
p.Ala398Thr Multiple submitters hypokalemic periodic paralysis, type 2
p.Ala447Thr Multiple submitters congenital myopathy 22A, classic
p.Ala533Thr Multiple submitters hyperkalemic periodic paralysis ⚠
p.Ala552Thr Multiple submitters potassium-aggravated myotonia
p.Arg1001His Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
p.Arg1022Lys Multiple submitters hyperkalemic periodic paralysis ⚠
p.Arg1058Gln Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
p.Arg122His Multiple submitters Inborn genetic diseases ⚠
p.Arg122Leu Multiple submitters hyperkalemic periodic paralysis ⚠
p.Arg1257Trp Multiple submitters ⚠
p.Arg1337Trp Multiple submitters hyperkalemic periodic paralysis ⚠
p.Arg1457Cys Multiple submitters paramyotonia congenita of Von Eulenburg ⚠
p.Arg1652Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg1739His Multiple submitters Inborn genetic diseases ⚠
p.Arg1755Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg1755His Multiple submitters Inborn genetic diseases ⚠
p.Arg179Gln Multiple submitters hyperkalemic periodic paralysis ⚠
p.Arg18His Multiple submitters hyperkalemic periodic paralysis ⚠
p.Arg190Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg190Trp Multiple submitters potassium-aggravated myotonia ⚠
p.Arg22Trp Multiple submitters congenital myasthenic syndrome 16 ⚠
p.Arg282Cys Multiple submitters hyperkalemic periodic paralysis ⚠
p.Arg282His Multiple submitters Inborn genetic diseases ⚠
p.Arg31Gln Multiple submitters hyperkalemic periodic paralysis ⚠
p.Arg31Trp Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
p.Arg380Gln Multiple submitters hyperkalemic periodic paralysis ⚠
p.Arg380Trp Multiple submitters congenital myopathy 22A, classic ⚠
p.Arg38Gln Multiple submitters potassium-aggravated myotonia ⚠
p.Arg38Trp Multiple submitters hyperkalemic periodic paralysis ⚠
p.Arg3Thr Multiple submitters hyperkalemic periodic paralysis ⚠
p.Arg41Trp Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
p.Arg52Gln Multiple submitters hyperkalemic periodic paralysis ⚠
p.Arg55Gln Multiple submitters congenital myasthenic syndrome 16 ⚠
p.Arg741Cys Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
p.Arg756His Multiple submitters hyperkalemic periodic paralysis ⚠
p.Asn1229Asp Multiple submitters hyperkalemic periodic paralysis ⚠
p.Asn1299Ile Multiple submitters hyperkalemic periodic paralysis ⚠
p.Asn1602Ser Multiple submitters hyperkalemic periodic paralysis ⚠
p.Asn214Ser Multiple submitters congenital myopathy 22A, classic ⚠
p.Asn288Ser Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
p.Asn291Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn355Ser Multiple submitters hyperkalemic periodic paralysis ⚠
p.Asn63Ser Multiple submitters congenital myopathy 22A, classic ⚠
p.Asp1228Asn Multiple submitters congenital myopathy 22A, classic ⚠
p.Asp1435His Multiple submitters hypokalemic periodic paralysis, type 2 ⚠
p.Asp1630Asn Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
p.Asp1665His Multiple submitters hyperkalemic periodic paralysis ⚠
p.Asp1678Gly Multiple submitters hyperkalemic periodic paralysis ⚠
p.Asp1759Asn Multiple submitters congenital myopathy 22A, classic ⚠
p.Asp184Asn Multiple submitters hyperkalemic periodic paralysis ⚠
p.Asp185Ala Multiple submitters Inborn genetic diseases ⚠
p.Asp289Asn Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
p.Asp322Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp337His Multiple submitters hypokalemic periodic paralysis, type 2 ⚠
p.Asp344Asn Multiple submitters congenital myopathy 22A, classic ⚠
p.Asp356Asn Multiple submitters hyperkalemic periodic paralysis ⚠
p.Asp511_Ser513delinsAlaGluVal Multiple submitters
p.Asp57Glu Multiple submitters hyperkalemic periodic paralysis ⚠
p.Asp736Gly Multiple submitters hyperkalemic periodic paralysis ⚠
p.Asp942Asn Multiple submitters congenital myopathy 22A, classic ⚠
p.Gln405Glu Multiple submitters hyperkalemic periodic paralysis ⚠
p.Gln514Leu Multiple submitters hyperkalemic periodic paralysis ⚠
p.Gln639His Multiple submitters hyperkalemic periodic paralysis ⚠
p.Glu1144Lys Multiple submitters hyperkalemic periodic paralysis ⚠
p.Glu1208Gln Multiple submitters hyperkalemic periodic paralysis ⚠
p.Glu1266Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu1520Lys Multiple submitters hyperkalemic periodic paralysis ⚠
p.Glu1531Lys Multiple submitters hyperkalemic periodic paralysis ⚠
p.Glu452Asp Multiple submitters congenital myasthenic syndrome 16 ⚠
p.Glu455Ala Multiple submitters Inborn genetic diseases ⚠
p.Glu460Lys Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
p.Glu467del Multiple submitters hyperkalemic periodic paralysis
p.Glu480Gln Multiple submitters congenital myasthenic syndrome 16 ⚠
p.Glu481Leu Multiple submitters hyperkalemic periodic paralysis
p.Glu49Asp Multiple submitters potassium-aggravated myotonia ⚠
p.Glu49Lys Multiple submitters potassium-aggravated myotonia ⚠
p.Glu51Lys Multiple submitters hyperkalemic periodic paralysis ⚠
p.Glu536Lys Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
p.Glu636Lys Multiple submitters hyperkalemic periodic paralysis ⚠
p.Glu860Lys Multiple submitters hyperkalemic periodic paralysis ⚠
p.Glu876Lys Multiple submitters congenital myasthenic syndrome 16 ⚠
p.Glu974Lys Multiple submitters hyperkalemic periodic paralysis ⚠
p.Gly123Arg Multiple submitters hyperkalemic periodic paralysis ⚠
p.Gly1464Ala Multiple submitters Inborn genetic diseases
p.Gly1549Arg Multiple submitters hyperkalemic periodic paralysis ⚠
p.Gly1569Ser Multiple submitters hyperkalemic periodic paralysis ⚠
p.Gly1569Val Multiple submitters hyperkalemic periodic paralysis ⚠
p.Gly1796Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly268Ala Multiple submitters hyperkalemic periodic paralysis ⚠
p.Gly302Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly314Ser Multiple submitters congenital myopathy 22A, classic ⚠
p.Gly372Ser Multiple submitters hyperkalemic periodic paralysis ⚠
p.Gly379Arg Multiple submitters hyperkalemic periodic paralysis ⚠
p.Gly493Asp Multiple submitters hyperkalemic periodic paralysis ⚠
p.Gly494Arg Multiple submitters congenital myopathy 22A, classic ⚠
p.Gly515Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly515Trp Multiple submitters hyperkalemic periodic paralysis ⚠
p.Gly518Glu Multiple submitters potassium-aggravated myotonia ⚠
p.Gly529Ser Multiple submitters paramyotonia congenita of Von Eulenburg ⚠
p.Gly61Ser Multiple submitters congenital myopathy 22A, classic ⚠
p.Gly641Asp Multiple submitters hyperkalemic periodic paralysis ⚠
p.Gly641Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly69Arg Multiple submitters congenital myasthenic syndrome 16 ⚠
p.Gly701Arg Multiple submitters hyperkalemic periodic paralysis ⚠
p.Gly77Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly827Trp Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
p.Gly863Arg Multiple submitters hyperkalemic periodic paralysis ⚠
p.Gly865Arg Multiple submitters hyperkalemic periodic paralysis ⚠
p.Gly987Glu Multiple submitters congenital myopathy 22A, classic ⚠
p.Gly99Val Multiple submitters ⚠
p.His553Asp Multiple submitters hyperkalemic periodic paralysis ⚠
p.His553Gln Multiple submitters hyperkalemic periodic paralysis ⚠
p.His605Tyr Multiple submitters paramyotonia congenita of Von Eulenburg ⚠
p.His745Arg Multiple submitters potassium-aggravated myotonia ⚠
p.Ile1104Met Multiple submitters hyperkalemic periodic paralysis ⚠
p.Ile1279Val Multiple submitters potassium-aggravated myotonia ⚠
p.Ile1291Val Multiple submitters hyperkalemic periodic paralysis
p.Ile129Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile1394Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1468Val Multiple submitters Inborn genetic diseases ⚠
p.Ile1597Met Multiple submitters Inborn genetic diseases ⚠
p.Ile167Phe Multiple submitters hyperkalemic periodic paralysis ⚠
p.Ile28Leu Multiple submitters congenital myasthenic syndrome 16 ⚠
p.Ile570Asn Multiple submitters hyperkalemic periodic paralysis
p.Ile571Val Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
p.Ile586Met Multiple submitters Inborn genetic diseases ⚠
p.Ile648Thr Multiple submitters hyperkalemic periodic paralysis ⚠
p.Ile67Val Multiple submitters Inborn genetic diseases ⚠
p.Ile713Val Multiple submitters Inborn genetic diseases ⚠
p.Leu1164Pro Multiple submitters hyperkalemic periodic paralysis ⚠
p.Leu1235Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu1433Phe Multiple submitters hyperkalemic periodic paralysis ⚠
p.Leu1661Pro Multiple submitters SCN4A-related disorder ⚠
p.Leu227Phe Multiple submitters hyperkalemic periodic paralysis ⚠
p.Leu256Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu433= Multiple submitters congenital myasthenic syndrome 16
p.Leu438Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu64Val Multiple submitters congenital myopathy 22A, classic ⚠
p.Lys126Arg Multiple submitters hyperkalemic periodic paralysis ⚠
p.Lys1403Arg Multiple submitters hyperkalemic periodic paralysis ⚠
p.Lys1748Arg Multiple submitters hyperkalemic periodic paralysis ⚠
p.Lys476Glu Multiple submitters hyperkalemic periodic paralysis
p.Lys566Asn Multiple submitters hypokalemic periodic paralysis, type 1
p.Lys727Arg Multiple submitters hyperkalemic periodic paralysis ⚠
p.Met1360Ile Multiple submitters hyperkalemic periodic paralysis ⚠
p.Met1747Val Multiple submitters paramyotonia congenita of Von Eulenburg ⚠
p.Met202Val Multiple submitters hyperkalemic periodic paralysis ⚠
p.Met203Val Multiple submitters ⚠
p.Met254Val Multiple submitters hyperkalemic periodic paralysis ⚠
p.Met424Val Multiple submitters congenital myopathy 22A, classic ⚠
p.Met448Ile Multiple submitters hyperkalemic periodic paralysis ⚠
p.Met448Lys Multiple submitters hyperkalemic periodic paralysis ⚠
p.Met448Val Multiple submitters hyperkalemic periodic paralysis ⚠
p.Met597Ile Multiple submitters hyperkalemic periodic paralysis ⚠
p.Met625Thr Multiple submitters paramyotonia congenita of Von Eulenburg ⚠
p.Met766Thr Multiple submitters hyperkalemic periodic paralysis ⚠
p.Met855Thr Multiple submitters Inborn genetic diseases ⚠
p.Met897Thr Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
p.Phe103Val Multiple submitters congenital myopathy 22A, classic ⚠
p.Phe105Leu Multiple submitters hyperkalemic periodic paralysis ⚠
p.Phe105Ser Multiple submitters hyperkalemic periodic paralysis ⚠
p.Phe1186Leu Multiple submitters hypokalemic periodic paralysis, type 2 ⚠
p.Phe1355Leu Multiple submitters potassium-aggravated myotonia ⚠
p.Phe198Leu Multiple submitters hyperkalemic periodic paralysis ⚠
p.Phe436Leu Multiple submitters hyperkalemic periodic paralysis ⚠
p.Phe475Leu Multiple submitters hyperkalemic periodic paralysis ⚠
p.Phe567Leu Multiple submitters hyperkalemic periodic paralysis
p.Phe712Tyr Multiple submitters hyperkalemic periodic paralysis ⚠
p.Phe782Leu Multiple submitters hyperkalemic periodic paralysis ⚠
p.Phe93Leu Multiple submitters hyperkalemic periodic paralysis ⚠
p.Pro153Leu Multiple submitters hyperkalemic periodic paralysis ⚠
p.Pro1670Ser Multiple submitters hyperkalemic periodic paralysis ⚠
p.Pro192Ser Multiple submitters hyperkalemic periodic paralysis ⚠
p.Pro19Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro19Ser Multiple submitters hypokalemic periodic paralysis, type 1 ⚠
p.Pro286Leu Multiple submitters congenital myasthenic syndrome 16 ⚠
p.Pro520Arg Multiple submitters congenital myasthenic syndrome 16 ⚠
p.Pro520Leu Multiple submitters congenital myasthenic syndrome 16 ⚠
p.Pro546Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro563Gln Multiple submitters hyperkalemic periodic paralysis ⚠
p.Pro563Leu Multiple submitters hyperkalemic periodic paralysis ⚠
p.Pro578Leu Multiple submitters hyperkalemic periodic paralysis ⚠
p.Pro72Leu Multiple submitters hyperkalemic periodic paralysis ⚠
p.Pro740Leu Multiple submitters hyperkalemic periodic paralysis ⚠
p.Pro79Thr Multiple submitters hyperkalemic periodic paralysis ⚠
p.Pro990Thr Multiple submitters congenital myopathy 22A, classic ⚠
p.Ser115Gly Multiple submitters congenital myopathy 22A, classic ⚠
p.Ser1211Arg Multiple submitters hyperkalemic periodic paralysis ⚠
p.Ser1609Arg Multiple submitters hyperkalemic periodic paralysis ⚠
p.Ser199Ile Multiple submitters Inborn genetic diseases
p.Ser246Leu Multiple submitters hyperkalemic periodic paralysis ⚠
p.Ser251Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser296_Tyr301dup Multiple submitters hyperkalemic periodic paralysis
p.Ser513Leu Multiple submitters hyperkalemic periodic paralysis ⚠
p.Ser528Ile Multiple submitters Inborn genetic diseases ⚠
p.Ser905Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser950Thr Multiple submitters hyperkalemic periodic paralysis ⚠
p.Thr1369Asn Multiple submitters hyperkalemic periodic paralysis ⚠
p.Thr140Ile Multiple submitters paramyotonia congenita of Von Eulenburg ⚠
p.Thr169Asn Multiple submitters congenital myopathy 22A, classic ⚠
p.Thr1719Asn Multiple submitters congenital myopathy 22A, classic ⚠
p.Thr1721Ile Multiple submitters hyperkalemic periodic paralysis ⚠
p.Thr238Lys Multiple submitters hyperkalemic periodic paralysis ⚠
p.Thr238Met Multiple submitters hypokalemic periodic paralysis, type 2 ⚠
p.Thr293Met Multiple submitters Inborn genetic diseases ⚠
p.Thr378Ala Multiple submitters congenital myopathy 22A, classic ⚠
p.Thr512Ala Multiple submitters paramyotonia congenita of Von Eulenburg ⚠
p.Thr585Ala Multiple submitters hyperkalemic periodic paralysis ⚠
p.Thr603Arg Multiple submitters paramyotonia congenita of Von Eulenburg ⚠
p.Trp306Arg Multiple submitters hyperkalemic periodic paralysis
p.Trp306Gly Multiple submitters hyperkalemic periodic paralysis ⚠
p.Trp318Cys Multiple submitters hyperkalemic periodic paralysis ⚠
p.Tyr1227His Multiple submitters SCN4A-related myopathy, autosomal recessive ⚠
p.Tyr1320del Multiple submitters hyperkalemic periodic paralysis
p.Tyr205Cys Multiple submitters hyperkalemic periodic paralysis ⚠
p.Tyr295Asn Multiple submitters hyperkalemic periodic paralysis ⚠
p.Tyr423Cys Multiple submitters hyperkalemic periodic paralysis ⚠
p.Tyr87del Multiple submitters hyperkalemic periodic paralysis
p.Val1148Ala Multiple submitters hyperkalemic periodic paralysis ⚠
p.Val127Met Multiple submitters hyperkalemic periodic paralysis
p.Val1422Met Multiple submitters hyperkalemic periodic paralysis ⚠
p.Val1729Met Multiple submitters hyperkalemic periodic paralysis ⚠
p.Val240Met Multiple submitters hyperkalemic periodic paralysis ⚠
p.Val247Leu Multiple submitters potassium-aggravated myotonia ⚠
p.Val247Met Multiple submitters hyperkalemic periodic paralysis ⚠
p.Val253Met Multiple submitters hyperkalemic periodic paralysis ⚠
p.Val263Ile Multiple submitters hyperkalemic periodic paralysis ⚠
p.Val281Met Multiple submitters Inborn genetic diseases ⚠
p.Val428Leu Multiple submitters paramyotonia congenita of Von Eulenburg ⚠
p.Val428Met Multiple submitters Inborn genetic diseases ⚠
p.Val609Leu Multiple submitters hyperkalemic periodic paralysis
p.Val612Ala Multiple submitters Inborn genetic diseases
p.Val662Ile Multiple submitters hyperkalemic periodic paralysis ⚠
p.Val667Met Multiple submitters paramyotonia congenita of Von Eulenburg ⚠
p.Val754Ile Multiple submitters hyperkalemic periodic paralysis ⚠
p.Val95Ile Multiple submitters congenital myasthenic syndrome 16 ⚠
p.Val999Leu Multiple submitters
c.1100+3G>A Single submitter hyperkalemic periodic paralysis
c.1607-1G>C Single submitter
c.1845+3A>T Single submitter
c.1845+4G>A Single submitter hyperkalemic periodic paralysis
c.274-20C>G Single submitter congenital myopathy 22A, classic
c.3318+6T>C Single submitter hyperkalemic periodic paralysis
c.3442-3C>T Single submitter hyperkalemic periodic paralysis
c.3912+3del Single submitter potassium-aggravated myotonia
c.4017+5A>G Single submitter hyperkalemic periodic paralysis
c.4288+5G>A Single submitter
c.482+3A>G Single submitter hyperkalemic periodic paralysis
c.483-2dup Single submitter hyperkalemic periodic paralysis
c.483-3C>A Single submitter hyperkalemic periodic paralysis
c.483-3C>T Single submitter hyperkalemic periodic paralysis
c.483-6C>G Single submitter hyperkalemic periodic paralysis
c.611+3_611+7delinsAACC Single submitter hyperkalemic periodic paralysis
c.611+3G>A Single submitter
c.612-10C>G Single submitter
c.703+5T>C Single submitter
c.-23G>T Single submitter congenital myasthenic syndrome 16
c.-2G>T Single submitter
c.-5C>T Single submitter congenital myopathy 22A, classic
c.*1345A>G Single submitter congenital myasthenic syndrome 16
c.*1505G>T Single submitter paramyotonia congenita of Von Eulenburg
c.*1599A>G Single submitter congenital myasthenic syndrome 16
c.*1875A>G Single submitter potassium-aggravated myotonia
c.*754T>C Single submitter hyperkalemic periodic paralysis
p.298DTWYGN[1] Single submitter hyperkalemic periodic paralysis
p.Ala101Thr Single submitter ⚠
p.Ala107Thr Single submitter hyperkalemic periodic paralysis ⚠
p.Ala1241Gly Single submitter hyperkalemic periodic paralysis ⚠
p.Ala1322Thr Single submitter hyperkalemic periodic paralysis ⚠
p.Ala178Thr Single submitter hyperkalemic periodic paralysis ⚠
p.Ala242Val Single submitter Inborn genetic diseases ⚠
p.Ala26Glu Single submitter ⚠
p.Ala32Val Single submitter hyperkalemic periodic paralysis ⚠
p.Ala331Val Single submitter hyperkalemic periodic paralysis ⚠
p.Ala340Ser Single submitter hyperkalemic periodic paralysis ⚠
p.Ala357Val Single submitter hyperkalemic periodic paralysis ⚠
p.Ala37Thr Single submitter hyperkalemic periodic paralysis ⚠
p.Ala447Ser Single submitter ⚠
p.Ala447Val Single submitter Inborn genetic diseases ⚠
p.Ala449Thr Single submitter hyperkalemic periodic paralysis ⚠
p.Ala456Pro Single submitter hyperkalemic periodic paralysis ⚠