PRRT2 — 706 ClinVar variants

All ClinVar germline PRRT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 328 flagged for review →

95 Pathogenic · 13 Pathogenic/Likely pathogenic · 30 Likely pathogenic · 53 Conflicting · 3 Benign · 15 Benign/Likely benign · 172 Likely benign · 325 Uncertain significance

Full PRRT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 328

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 34

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

PRRT2 p.Ala118Thr Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala214Pro Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala252Gly Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala306Pro Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala56Val Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Arg145Gln Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Arg145Trp Conflicting Single submitter
Inborn genetic diseases
PRRT2 p.Arg217Gln Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Arg240Gln Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Arg295Gln Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Arg295Trp Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Arg308Cys Conflicting Single submitter
episodic kinesigenic dyskinesia 1
PRRT2 p.Arg308His Conflicting Single submitter
Inborn genetic diseases
PRRT2 p.Asn212Ser Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Asp165Asn Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Glu102Lys Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Glu164Lys Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Glu177Lys Conflicting Single submitter
seizures, benign familial infantile, 2
PRRT2 p.Glu225Ala Conflicting Single submitter
Inborn genetic diseases
PRRT2 p.Glu23Lys Conflicting Single submitter
episodic kinesigenic dyskinesia 1
PRRT2 p.Gly123Glu Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Gly324Ala Conflicting Single submitter
PRRT2 p.Gly92Glu Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.His201Gln Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Pro101His Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Pro144Leu Conflicting Single submitter
Inborn genetic diseases
PRRT2 p.Pro154Ser Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Pro215Ser Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Pro216Arg Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Pro45Ser Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Pro75Leu Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ser115Asn Conflicting Single submitter
Inborn genetic diseases
PRRT2 p.Thr151Ile Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Val338Ala Conflicting Single submitter
episodic kinesigenic dyskinesia

Predictors lean, ClinVar uncertain 260

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 260

PRRT2 p.Ala139Thr Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Ala155Gly Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Ala155Val Uncertain significance Multiple submitters
PRRT2-Related Disorder
PRRT2 p.Ala189Pro Uncertain significance Multiple submitters
seizures, benign familial infantile, 2
PRRT2 p.Ala214Gly Uncertain significance Multiple submitters
Inborn genetic diseases
PRRT2 p.Ala287Pro Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Ala289Val Uncertain significance Multiple submitters
Inborn genetic diseases
PRRT2 p.Ala2Glu Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Ala306Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PRRT2 p.Ala330Thr Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Ala39Val Uncertain significance Multiple submitters
Inborn genetic diseases
PRRT2 p.Ala3Gly Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Ala76Thr Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Arg217Gly Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Asn296Tyr Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Asp121Glu Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Asp43Gly Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia 1
PRRT2 p.Gln149Pro Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Gln157His Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Gln299Arg Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Gln307Lys Uncertain significance Multiple submitters
PRRT2-Related Disorder
PRRT2 p.Gln49Glu Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Gln83Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PRRT2 p.Glu107Lys Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Glu15Lys Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Glu169Gly Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Glu16Gly Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Glu225Gly Uncertain significance Multiple submitters
infantile convulsions and choreoathetosis
PRRT2 p.Glu29Lys Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Glu7Lys Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Gly195Asp Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Gly213Glu Uncertain significance Multiple submitters
Inborn genetic diseases
PRRT2 p.Gly22Ser Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Gly241Ser Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Gly24Glu Uncertain significance Multiple submitters
Inborn genetic diseases
PRRT2 p.Gly255Glu Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Gly259Asp Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Gly310Ser Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Gly40Arg Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.His232Gln Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Ile270Asn Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Ile270Val Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Ile329Val Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Leu156Phe Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Leu326Ile Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia 1
PRRT2 p.Leu87Val Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Lys116Ile Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Lys206Asn Uncertain significance Multiple submitters
PRRT2 p.Met11Thr Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Pro146Thr Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Pro18Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PRRT2 p.Pro200Arg Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Pro247Arg Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Pro265Thr Uncertain significance Multiple submitters
infantile convulsions and choreoathetosis
PRRT2 p.Pro282Ser Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Pro42Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PRRT2 p.Pro58Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PRRT2 p.Pro91Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PRRT2 p.Ser174Arg Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Ser208Phe Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Ser249Pro Uncertain significance Multiple submitters
PRRT2-Associated Paroxysmal Movement Disorders
PRRT2 p.Thr74Asn Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Thr74Ile Uncertain significance Multiple submitters
PRRT2 p.Val218Gly Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Val303Met Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Val319Met Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Val338Glu Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Ala118Asp Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala120Val Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala130Gly Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala183Pro Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala183Ser Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala189Thr Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala197Thr Uncertain significance Single submitter
PRRT2 p.Ala214Asp Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala214Thr Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala214Val Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala289Asp Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala289Thr Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala57Asp Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala57Val Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala65Gly Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala68Thr Uncertain significance Single submitter
Inborn genetic diseases
PRRT2 p.Ala76Val Uncertain significance Single submitter
PRRT2 p.Ala78Pro Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala78Thr Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala84Asp Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Arg125Ser Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Arg145Leu Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Arg145Pro Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Arg217Pro Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Arg227Gln Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Arg230Lys Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Arg245His Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Arg308Gly Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Arg308Pro Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Asn212Thr Uncertain significance Single submitter
Inborn genetic diseases
PRRT2 p.Asn335Thr Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Asn98Lys Uncertain significance Single submitter
PRRT2 p.Asn98Ser Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Asp103Asn Uncertain significance Single submitter
Inborn genetic diseases
PRRT2 p.Asp121His Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Asp143Glu Uncertain significance Single submitter
PRRT2 p.Asp165Gly Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Asp191Val Uncertain significance Single submitter
PRRT2 p.Asp226Val Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Asp302His Uncertain significance Single submitter
PRRT2 p.Asp302Val Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Asp304Asn Uncertain significance Single submitter
infantile convulsions and choreoathetosis
PRRT2 p.Asp60Ala Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Asp60Asn Uncertain significance Single submitter
PRRT2 p.Cys99Tyr Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Gln141Glu Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Gln157Pro Uncertain significance Single submitter
PRRT2 p.Gln221His Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Gln299Pro Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Gln300His Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Gln36Arg Uncertain significance Single submitter
PRRT2 p.Gln36His Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Gln36Lys Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Gln49Arg Uncertain significance Single submitter
PRRT2 p.Gln49Lys Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Glu107Asp Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Glu10Val Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Glu117Gln Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Glu159Lys Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Glu16Gln Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Glu16Lys Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Glu180Asp Uncertain significance Single submitter
Inborn genetic diseases
PRRT2 p.Glu194Ala Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Glu194Asp Uncertain significance Single submitter
PRRT2 p.Glu199Asp Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Glu199Gln Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Glu225Lys Uncertain significance Single submitter
PRRT2 p.Glu46Lys Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Glu7Asp Uncertain significance Single submitter
Inborn genetic diseases
PRRT2 p.Glu80Gly Uncertain significance Single submitter
PRRT2 p.Glu94Lys Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Glu94Val Uncertain significance Single submitter
PRRT2 p.Gly123Val Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Gly13Glu Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Gly190Ala Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Gly192Arg Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Gly213Val Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Gly22Asp Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Gly234Arg Uncertain significance Single submitter
PRRT2 p.Gly234Glu Uncertain significance Single submitter
PRRT2 p.Gly253Ala Uncertain significance Single submitter
PRRT2 p.Gly253Ser Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Gly258Ala Uncertain significance Single submitter

Predictors split 34

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

PRRT2 p.Ala291Thr Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Arg311Gln Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Pro152His Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Ser244Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PRRT2 p.Ser297Arg Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Ser6Phe Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Tyr339Cys Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Val338Met Uncertain significance Multiple submitters
episodic kinesigenic dyskinesia
PRRT2 p.Ala287Val Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala306Ser Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ala320Val Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Arg311Gly Likely pathogenic Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Arg311Pro Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Arg311Trp Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Asp121Tyr Likely benign Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Asp143Tyr Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Asp165Tyr Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Asp191Tyr Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Glu257Lys Uncertain significance Single submitter
episodic kinesigenic dyskinesia 1
PRRT2 p.Gly182Glu Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Gly305Arg Pathogenic Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Gly305Glu Conflicting Single submitter
seizures, benign familial infantile, 2
PRRT2 p.Gly337Asp Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ile328Phe Uncertain significance Single submitter
PRRT2 p.Met280Ile Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Phe288Leu Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Pro134Arg Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Pro150Arg Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Pro152Arg Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ser208Tyr Conflicting Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ser238Cys Uncertain significance Single submitter
episodic kinesigenic dyskinesia
PRRT2 p.Ser275Pro Likely pathogenic Single submitter
PRRT2 p.Val319Leu Conflicting Single submitter
seizures, benign familial infantile, 2
PRRT2 p.Val325Ala Conflicting Single submitter
episodic kinesigenic dyskinesia

All PRRT2 variants

Pathogenic 95

c.880-1G>A Multiple submitters PRRT2-Related Disorder
c.880-1G>T Multiple submitters episodic kinesigenic dyskinesia
p.Ala211fs Multiple submitters PRRT2-Related Disorder
p.Arg145fs Multiple submitters
p.Arg217Ter Multiple submitters PRRT2-associated paroxysmal movement disorder
p.Arg227Ter Multiple submitters episodic kinesigenic dyskinesia
p.Arg240Ter Multiple submitters episodic kinesigenic dyskinesia
p.Gln299Ter Multiple submitters episodic kinesigenic dyskinesia
p.Gln300Ter Multiple submitters episodic kinesigenic dyskinesia
p.Gln307fs Multiple submitters episodic kinesigenic dyskinesia
p.Glu10Ter Multiple submitters episodic kinesigenic dyskinesia
p.Glu173Ter Multiple submitters episodic kinesigenic dyskinesia
p.Glu257fs Multiple submitters episodic kinesigenic dyskinesia
p.Glu70fs Multiple submitters episodic kinesigenic dyskinesia
p.Glu73fs Multiple submitters episodic kinesigenic dyskinesia
p.Gly305_Ala306insTer Multiple submitters episodic kinesigenic dyskinesia
p.Pro210fs Multiple submitters episodic kinesigenic dyskinesia 1
p.Ser110fs Multiple submitters episodic kinesigenic dyskinesia
p.Ser172fs Multiple submitters episodic kinesigenic dyskinesia
p.Ser202fs Multiple submitters episodic kinesigenic dyskinesia
p.Ser95fs Multiple submitters Inborn genetic diseases
p.Thr151fs Multiple submitters episodic kinesigenic dyskinesia
c.880-1G>C Single submitter episodic kinesigenic dyskinesia
c.880-2A>C Single submitter episodic kinesigenic dyskinesia
c.-65-1G>A Single submitter seizures, benign familial infantile, 2
p.Ala120fs Single submitter Seizure
p.Ala183fs Single submitter episodic kinesigenic dyskinesia
p.Ala214fs Single submitter episodic kinesigenic dyskinesia
p.Ala231fs Single submitter episodic kinesigenic dyskinesia
p.Ala306_Arg308del Single submitter episodic kinesigenic dyskinesia
p.Ala313_Val322del Single submitter episodic kinesigenic dyskinesia
p.Ala76fs Single submitter episodic kinesigenic dyskinesia
p.Arg308fs Single submitter episodic kinesigenic dyskinesia
p.Asn181fs Single submitter episodic kinesigenic dyskinesia
p.Asn296fs Single submitter episodic kinesigenic dyskinesia
p.Asn335_Leu336insTer Single submitter episodic kinesigenic dyskinesia
p.Asp267fs Single submitter episodic kinesigenic dyskinesia 1
p.Asp302fs Single submitter
p.Cys278Ter Single submitter episodic kinesigenic dyskinesia
p.Gln141fs Single submitter episodic kinesigenic dyskinesia
p.Gln157fs Single submitter episodic kinesigenic dyskinesia
p.Gln157Ter Single submitter episodic kinesigenic dyskinesia
p.Gln163fs Single submitter episodic kinesigenic dyskinesia
p.Gln163Ter Single submitter Inborn genetic diseases
p.Gln179fs Single submitter episodic kinesigenic dyskinesia 1
p.Gln179Ter Single submitter episodic kinesigenic dyskinesia
p.Gln220Ter Single submitter episodic kinesigenic dyskinesia
p.Gln221fs Single submitter episodic kinesigenic dyskinesia
p.Gln221Ter Single submitter episodic kinesigenic dyskinesia
p.Gln263Ter Single submitter episodic kinesigenic dyskinesia
p.Gln44Ter Single submitter episodic kinesigenic dyskinesia
p.Gln83Ter Single submitter episodic kinesigenic dyskinesia
p.Glu102Ter Single submitter Inborn genetic diseases
p.Glu194fs Single submitter episodic kinesigenic dyskinesia
p.Gly237fs Single submitter Inborn genetic diseases
p.Gly259_Glu260insTer Single submitter episodic kinesigenic dyskinesia
p.Gly305Arg Single submitter episodic kinesigenic dyskinesia ⚠
p.Gly323Glu Single submitter
p.Gly324Arg Single submitter episodic kinesigenic dyskinesia
p.Gly324Ter Single submitter episodic kinesigenic dyskinesia
p.Leu326fs Single submitter episodic kinesigenic dyskinesia
p.Lys116fs Single submitter episodic kinesigenic dyskinesia
p.Lys153fs Single submitter episodic kinesigenic dyskinesia
p.Lys19Ter Single submitter episodic kinesigenic dyskinesia
p.Lys314fs Single submitter episodic kinesigenic dyskinesia
p.Lys64fs Single submitter episodic kinesigenic dyskinesia
p.Pro136fs Single submitter episodic kinesigenic dyskinesia
p.Pro168fs Single submitter episodic kinesigenic dyskinesia
p.Pro18fs Single submitter episodic kinesigenic dyskinesia 1
p.Pro247fs Single submitter episodic kinesigenic dyskinesia 1
p.Pro254fs Single submitter episodic kinesigenic dyskinesia
p.Pro58fs Single submitter
p.Ser100fs Single submitter episodic kinesigenic dyskinesia
p.Ser208fs Single submitter
p.Ser233fs Single submitter episodic kinesigenic dyskinesia
p.Ser248fs Single submitter episodic kinesigenic dyskinesia
p.Ser317Asn Single submitter episodic kinesigenic dyskinesia
p.Ser331fs Single submitter episodic kinesigenic dyskinesia
p.Ser61Ter Single submitter
p.Ser79Ter Single submitter Inborn genetic diseases
p.Ser90fs Single submitter episodic kinesigenic dyskinesia
p.Ser95Ter Single submitter episodic kinesigenic dyskinesia
p.Thr119fs Single submitter episodic kinesigenic dyskinesia
p.Thr72fs Single submitter
p.Trp281Ter Single submitter episodic kinesigenic dyskinesia
p.Tyr290Ter Single submitter episodic kinesigenic dyskinesia
p.Val256fs Single submitter seizures, benign familial infantile, 2
p.Val283fs Single submitter episodic kinesigenic dyskinesia
p.Val41fs Single submitter episodic kinesigenic dyskinesia
c.879+5G>A No assertion criteria seizures, benign familial infantile, 2
p.Asn98fs No assertion criteria seizures, benign familial infantile, 2
p.Gln188Ter No assertion criteria infantile convulsions and choreoathetosis
p.Glu133fs No assertion criteria seizures, benign familial infantile, 2
p.Glu16Ter No assertion criteria seizures, benign familial infantile, 2
p.Val325fs No assertion criteria episodic kinesigenic dyskinesia 1

Pathogenic/Likely pathogenic 13

p.Arg217fs Multiple submitters seizures, benign familial infantile, 2
c.879+1G>T Multiple submitters episodic kinesigenic dyskinesia
c.880-34G>A Multiple submitters seizures, benign familial infantile, 2
p.Ala84fs Multiple submitters seizures, benign familial infantile, 2
p.Arg217fs Multiple submitters PRRT2-associated paroxysmal movement disorder
p.Gln250Ter Multiple submitters infantile convulsions and choreoathetosis
p.Gln36fs Multiple submitters seizures, benign familial infantile, 2
p.Glu94Ter Multiple submitters PRRT2-Related Disorder
p.Gly259fs Multiple submitters Seizure
p.Gly324fs Multiple submitters episodic kinesigenic dyskinesia
p.Gly324Glu Multiple submitters episodic kinesigenic dyskinesia
p.Pro131_Pro132insLysThrHisAlaLysLysGlnCysProAsnGlnLysTer Multiple submitters PRRT2-Related Disorder
p.Pro198fs Multiple submitters episodic kinesigenic dyskinesia

Likely pathogenic 30

p.Ala291Val Multiple submitters PRRT2-Related Disorder
p.Gly324Val Multiple submitters Episodic kinesigenic dyskinesia and familial infantile convulsions with paroxysmal choreoathetosis
c.879+1_879+2insGGTCCCA Single submitter episodic kinesigenic dyskinesia
p.Ala291Asp Single submitter
p.Ala306Val Single submitter episodic kinesigenic dyskinesia
p.Arg240fs Single submitter PRRT2-Related Disorder
p.Arg311Gly Single submitter episodic kinesigenic dyskinesia ⚠
p.Cys276Tyr Single submitter seizures, benign familial infantile, 2
p.Gln122Ter Single submitter infantile convulsions and choreoathetosis
p.Gln300fs Single submitter
p.Glu102fs Single submitter episodic kinesigenic dyskinesia 1
p.Glu16fs Single submitter PRRT2-Related Disorder
p.Glu177fs Single submitter
p.Glu193fs Single submitter
p.Glu29Ter Single submitter
p.Gly305Ala Single submitter episodic kinesigenic dyskinesia
p.Ile334Asn Single submitter seizures, benign familial infantile, 2
p.Leu171_Ser172insTer Single submitter seizures, benign familial infantile, 2
p.Leu336Ter Single submitter PRRT2-Related Disorder
p.Pro142fs Single submitter PRRT2-Related Disorder
p.Pro279Ala Single submitter seizures, benign familial infantile, 2
p.Pro282Arg Single submitter Seizure
p.Ser174fs Single submitter episodic kinesigenic dyskinesia 1
p.Ser275Pro Single submitter ⚠
p.Ter341Arg Single submitter
p.Ter341Ser Single submitter infantile convulsions and choreoathetosis
p.Thr162fs Single submitter episodic kinesigenic dyskinesia 1
p.Trp281Arg Single submitter episodic kinesigenic dyskinesia
p.Val114fs Single submitter seizures, benign familial infantile, 2
p.Val322fs Single submitter

Conflicting classifications of pathogenicity 53

c.1013-29C>T Single submitter
c.1013-29dup Single submitter PRRT2-Related Disorder
c.879+6C>A Single submitter episodic kinesigenic dyskinesia
c.880-10C>T Single submitter episodic kinesigenic dyskinesia
p.Ala118Thr Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala135_Pro142del Single submitter Inborn genetic diseases
p.Ala214Pro Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala252Gly Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala306Pro Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala306Ser Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala320Val Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala56Val Single submitter episodic kinesigenic dyskinesia ⚠
p.Arg145Gln Single submitter episodic kinesigenic dyskinesia ⚠
p.Arg145Trp Single submitter Inborn genetic diseases ⚠
p.Arg217= Single submitter episodic kinesigenic dyskinesia
p.Arg217Gln Single submitter episodic kinesigenic dyskinesia ⚠
p.Arg240Gln Single submitter episodic kinesigenic dyskinesia ⚠
p.Arg266Trp Single submitter episodic kinesigenic dyskinesia
p.Arg295Gln Single submitter episodic kinesigenic dyskinesia ⚠
p.Arg295Trp Single submitter episodic kinesigenic dyskinesia ⚠
p.Arg308Cys Single submitter episodic kinesigenic dyskinesia 1 ⚠
p.Arg308His Single submitter Inborn genetic diseases ⚠
p.Arg311Pro Single submitter episodic kinesigenic dyskinesia ⚠
p.Arg311Trp Single submitter episodic kinesigenic dyskinesia ⚠
p.Asn212Ser Single submitter episodic kinesigenic dyskinesia ⚠
p.Asp165Asn Single submitter episodic kinesigenic dyskinesia ⚠
p.Glu102Lys Single submitter episodic kinesigenic dyskinesia ⚠
p.Glu164Lys Single submitter episodic kinesigenic dyskinesia ⚠
p.Glu177Lys Single submitter seizures, benign familial infantile, 2 ⚠
p.Glu225Ala Single submitter Inborn genetic diseases ⚠
p.Glu23Lys Single submitter episodic kinesigenic dyskinesia 1 ⚠
p.Gly123Glu Single submitter episodic kinesigenic dyskinesia ⚠
p.Gly305Glu Single submitter seizures, benign familial infantile, 2 ⚠
p.Gly324Ala Single submitter ⚠
p.Gly337= Single submitter episodic kinesigenic dyskinesia
p.Gly92Glu Single submitter episodic kinesigenic dyskinesia ⚠
p.His201Gln Single submitter episodic kinesigenic dyskinesia ⚠
p.Lys340= Single submitter episodic kinesigenic dyskinesia
p.Pro101His Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro144Leu Single submitter Inborn genetic diseases ⚠
p.Pro154Ser Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro215Ser Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro216Arg Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro45Ser Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro75Leu Single submitter episodic kinesigenic dyskinesia ⚠
p.Ser115Asn Single submitter Inborn genetic diseases ⚠
p.Ser208Tyr Single submitter episodic kinesigenic dyskinesia ⚠
p.Thr108fs Single submitter episodic kinesigenic dyskinesia
p.Thr151Ile Single submitter episodic kinesigenic dyskinesia ⚠
p.Thr74= Single submitter episodic kinesigenic dyskinesia
p.Val319Leu Single submitter seizures, benign familial infantile, 2 ⚠
p.Val325Ala Single submitter episodic kinesigenic dyskinesia ⚠
p.Val338Ala Single submitter episodic kinesigenic dyskinesia ⚠

Benign 3

p.Pro138Ala Multiple submitters Inborn genetic diseases
c.879+57G>A Single submitter
c.*11C>T Single submitter

Benign/Likely benign 15

c.1012+71_1012+76del Multiple submitters
c.1013-16C>T Multiple submitters episodic kinesigenic dyskinesia
c.880-11C>T Multiple submitters episodic kinesigenic dyskinesia
c.880-14C>T Multiple submitters episodic kinesigenic dyskinesia
c.-30T>C Multiple submitters
p.Ala320= Multiple submitters episodic kinesigenic dyskinesia
p.Asp147His Multiple submitters episodic kinesigenic dyskinesia
p.Cys276= Multiple submitters episodic kinesigenic dyskinesia
p.Gln188= Multiple submitters episodic kinesigenic dyskinesia
p.Gly258Glu Multiple submitters episodic kinesigenic dyskinesia
p.His232= Multiple submitters episodic kinesigenic dyskinesia
p.Pro204= Multiple submitters episodic kinesigenic dyskinesia
p.Pro215Arg Multiple submitters episodic kinesigenic dyskinesia
p.Pro216Leu Multiple submitters episodic kinesigenic dyskinesia
p.Pro75= Multiple submitters episodic kinesigenic dyskinesia

Likely benign 172

c.1012+20A>G Multiple submitters episodic kinesigenic dyskinesia
c.1013-5C>G Multiple submitters episodic kinesigenic dyskinesia
c.880-13G>A Multiple submitters episodic kinesigenic dyskinesia
c.*55C>A Multiple submitters
p.Ala155= Multiple submitters episodic kinesigenic dyskinesia
p.Ala197= Multiple submitters episodic kinesigenic dyskinesia
p.Ala57= Multiple submitters episodic kinesigenic dyskinesia
p.Asp103= Multiple submitters episodic kinesigenic dyskinesia
p.Asp304= Multiple submitters episodic kinesigenic dyskinesia
p.Cys278= Multiple submitters episodic kinesigenic dyskinesia
p.Gln157= Multiple submitters episodic kinesigenic dyskinesia
p.Glu173= Multiple submitters episodic kinesigenic dyskinesia
p.Glu194Lys Multiple submitters Inborn genetic diseases
p.Glu29= Multiple submitters episodic kinesigenic dyskinesia
p.Gly123= Multiple submitters episodic kinesigenic dyskinesia
p.Gly176= Multiple submitters episodic kinesigenic dyskinesia
p.Gly22= Multiple submitters episodic kinesigenic dyskinesia
p.Gly93= Multiple submitters Inborn genetic diseases
p.Leu251= Multiple submitters Inborn genetic diseases
p.Lys153= Multiple submitters episodic kinesigenic dyskinesia
p.Pro101= Multiple submitters episodic kinesigenic dyskinesia
p.Pro144= Multiple submitters Inborn genetic diseases
p.Pro198= Multiple submitters episodic kinesigenic dyskinesia
p.Pro216His Multiple submitters episodic kinesigenic dyskinesia
p.Ser61= Multiple submitters episodic kinesigenic dyskinesia
p.Thr119= Multiple submitters episodic kinesigenic dyskinesia
p.Thr55= Multiple submitters episodic kinesigenic dyskinesia
p.Val312= Multiple submitters episodic kinesigenic dyskinesia
p.Val333Ile Multiple submitters episodic kinesigenic dyskinesia
c.1012+11G>C Single submitter episodic kinesigenic dyskinesia
c.1012+15G>A Single submitter episodic kinesigenic dyskinesia
c.1012+15G>C Single submitter episodic kinesigenic dyskinesia
c.1012+19C>T Single submitter
c.1012+42T>C Single submitter
c.1012+62A>T Single submitter
c.1012+7G>A Single submitter episodic kinesigenic dyskinesia
c.1013-10T>C Single submitter episodic kinesigenic dyskinesia
c.1013-12C>T Single submitter
c.1013-14C>G Single submitter episodic kinesigenic dyskinesia
c.1013-17C>T Single submitter episodic kinesigenic dyskinesia
c.1013-18C>T Single submitter episodic kinesigenic dyskinesia
c.1013-22C>T Single submitter
c.1013-28G>A Single submitter
c.1013-30C>G Single submitter
c.1013-3C>G Single submitter infantile convulsions and choreoathetosis
c.1013-41T>C Single submitter
c.1013-52C>G Single submitter
c.1013-61C>T Single submitter
c.1013-62T>G Single submitter
c.1013-6C>T Single submitter episodic kinesigenic dyskinesia
c.1013-74G>A Single submitter
c.1013-80C>T Single submitter
c.879+10A>G Single submitter episodic kinesigenic dyskinesia
c.879+20A>G Single submitter
c.879+8C>T Single submitter episodic kinesigenic dyskinesia
c.880-12C>A Single submitter episodic kinesigenic dyskinesia
c.880-12C>T Single submitter
c.880-16C>G Single submitter episodic kinesigenic dyskinesia
c.880-16C>T Single submitter episodic kinesigenic dyskinesia
c.880-180G>A Single submitter
c.880-53G>A Single submitter
c.880-5C>T Single submitter episodic kinesigenic dyskinesia
c.880-6C>T Single submitter episodic kinesigenic dyskinesia
c.-15dup Single submitter
c.-25G>C Single submitter
c.-32C>T Single submitter
c.-57G>A Single submitter
c.-58C>T Single submitter
c.-65-15CTC[2] Single submitter
c.-65-28_-65-7dup Single submitter
c.-66+19G>A Single submitter
c.-88_-66+6del Single submitter
c.*13C>T Single submitter
p.Ala118= Single submitter episodic kinesigenic dyskinesia
p.Ala139= Single submitter episodic kinesigenic dyskinesia
p.Ala183= Single submitter episodic kinesigenic dyskinesia
p.Ala189= Single submitter episodic kinesigenic dyskinesia
p.Ala214= Single submitter episodic kinesigenic dyskinesia
p.Ala289= Single submitter episodic kinesigenic dyskinesia
p.Ala291= Single submitter episodic kinesigenic dyskinesia
p.Ala330= Single submitter episodic kinesigenic dyskinesia
p.Ala39Thr Single submitter episodic kinesigenic dyskinesia
p.Ala56= Single submitter episodic kinesigenic dyskinesia
p.Arg145= Single submitter episodic kinesigenic dyskinesia
p.Arg227Gly Single submitter episodic kinesigenic dyskinesia
p.Arg266Gln Single submitter episodic kinesigenic dyskinesia
p.Arg308= Single submitter episodic kinesigenic dyskinesia
p.Arg311= Single submitter episodic kinesigenic dyskinesia
p.Asn181= Single submitter
p.Asp121= Single submitter episodic kinesigenic dyskinesia
p.Asp121Tyr Single submitter episodic kinesigenic dyskinesia ⚠
p.Asp165= Single submitter episodic kinesigenic dyskinesia
p.Asp302= Single submitter episodic kinesigenic dyskinesia
p.Asp86= Single submitter episodic kinesigenic dyskinesia
p.Cys332= Single submitter episodic kinesigenic dyskinesia
p.Gln122Lys Single submitter episodic kinesigenic dyskinesia
p.Gln263= Single submitter episodic kinesigenic dyskinesia
p.Gln83= Single submitter episodic kinesigenic dyskinesia
p.Glu10= Single submitter episodic kinesigenic dyskinesia
p.Glu127= Single submitter episodic kinesigenic dyskinesia
p.Glu137= Single submitter episodic kinesigenic dyskinesia
p.Glu199= Single submitter episodic kinesigenic dyskinesia
p.Glu31= Single submitter episodic kinesigenic dyskinesia
p.Glu46= Single submitter episodic kinesigenic dyskinesia
p.Glu70= Single submitter episodic kinesigenic dyskinesia
p.Glu73= Single submitter episodic kinesigenic dyskinesia
p.Gly13= Single submitter episodic kinesigenic dyskinesia
p.Gly13Arg Single submitter episodic kinesigenic dyskinesia
p.Gly182= Single submitter episodic kinesigenic dyskinesia
p.Gly234= Single submitter episodic kinesigenic dyskinesia
p.Gly237Arg Single submitter episodic kinesigenic dyskinesia
p.Gly241= Single submitter episodic kinesigenic dyskinesia
p.Gly253= Single submitter episodic kinesigenic dyskinesia
p.Gly255= Single submitter episodic kinesigenic dyskinesia
p.Gly258Arg Single submitter episodic kinesigenic dyskinesia
p.Gly301= Single submitter episodic kinesigenic dyskinesia
p.Gly33= Single submitter episodic kinesigenic dyskinesia
p.Gly62= Single submitter episodic kinesigenic dyskinesia
p.Gly66= Single submitter episodic kinesigenic dyskinesia
p.His201= Single submitter episodic kinesigenic dyskinesia
p.His235= Single submitter episodic kinesigenic dyskinesia
p.Ile269= Single submitter episodic kinesigenic dyskinesia
p.Ile270= Single submitter episodic kinesigenic dyskinesia
p.Ile273= Single submitter episodic kinesigenic dyskinesia
p.Ile285= Single submitter episodic kinesigenic dyskinesia
p.Ile318= Single submitter
p.Ile329= Single submitter episodic kinesigenic dyskinesia
p.Leu219= Single submitter episodic kinesigenic dyskinesia
p.Leu243= Single submitter episodic kinesigenic dyskinesia
p.Leu315= Single submitter episodic kinesigenic dyskinesia
p.Leu321= Single submitter episodic kinesigenic dyskinesia
p.Leu67= Single submitter episodic kinesigenic dyskinesia
p.Leu89= Single submitter Inborn genetic diseases
p.Lys19Gln Single submitter episodic kinesigenic dyskinesia
p.Lys64= Single submitter episodic kinesigenic dyskinesia
p.Lys96= Single submitter episodic kinesigenic dyskinesia
p.Pro140= Single submitter episodic kinesigenic dyskinesia
p.Pro140Ser Single submitter episodic kinesigenic dyskinesia
p.Pro144Ala Single submitter episodic kinesigenic dyskinesia
p.Pro161= Single submitter episodic kinesigenic dyskinesia
p.Pro166= Single submitter episodic kinesigenic dyskinesia
p.Pro168= Single submitter
p.Pro215= Single submitter episodic kinesigenic dyskinesia
p.Pro216= Single submitter episodic kinesigenic dyskinesia
p.Pro236= Single submitter episodic kinesigenic dyskinesia
p.Pro247= Single submitter episodic kinesigenic dyskinesia
p.Pro254Ser Single submitter Inborn genetic diseases
p.Pro279= Single submitter
p.Pro34= Single submitter episodic kinesigenic dyskinesia
p.Pro35= Single submitter episodic kinesigenic dyskinesia
p.Pro48= Single submitter episodic kinesigenic dyskinesia
p.Pro69= Single submitter episodic kinesigenic dyskinesia
p.Pro91= Single submitter episodic kinesigenic dyskinesia
p.Ser100= Single submitter episodic kinesigenic dyskinesia
p.Ser100Asn Single submitter episodic kinesigenic dyskinesia
p.Ser110= Single submitter
p.Ser172= Single submitter episodic kinesigenic dyskinesia
p.Ser208= Single submitter episodic kinesigenic dyskinesia
p.Ser317= Single submitter episodic kinesigenic dyskinesia
p.Ser5= Single submitter episodic kinesigenic dyskinesia
p.Ser79Leu Single submitter episodic kinesigenic dyskinesia
p.Ser88= Single submitter
p.Ser9= Single submitter
p.Thr108= Single submitter episodic kinesigenic dyskinesia
p.Thr54= Single submitter episodic kinesigenic dyskinesia
p.Tyr339= Single submitter episodic kinesigenic dyskinesia
p.Val114= Single submitter episodic kinesigenic dyskinesia
p.Val184= Single submitter episodic kinesigenic dyskinesia
p.Val312Ala Single submitter seizures, benign familial infantile, 2
p.Val319= Single submitter episodic kinesigenic dyskinesia
p.Val322= Single submitter episodic kinesigenic dyskinesia
p.Val338= Single submitter episodic kinesigenic dyskinesia

Uncertain significance 325

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

p.Ala139Thr Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Ala155Gly Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Ala155Val Multiple submitters PRRT2-Related Disorder ⚠
p.Ala189Pro Multiple submitters seizures, benign familial infantile, 2 ⚠
p.Ala214Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala287Pro Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Ala289Val Multiple submitters Inborn genetic diseases ⚠
p.Ala291Thr Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Ala2Glu Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Ala306Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala330Thr Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Ala39Val Multiple submitters Inborn genetic diseases ⚠
p.Ala3Gly Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Ala76Thr Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Arg217Gly Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Arg245Cys Multiple submitters episodic kinesigenic dyskinesia
p.Arg311Gln Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Asn296Tyr Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Asn335Ser Multiple submitters PRRT2-Related Disorder
p.Asp121Glu Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Asp43Gly Multiple submitters episodic kinesigenic dyskinesia 1 ⚠
p.Gln149Pro Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Gln157His Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Gln299Arg Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Gln307Lys Multiple submitters PRRT2-Related Disorder ⚠
p.Gln49Glu Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Gln83Pro Multiple submitters Inborn genetic diseases ⚠
p.Glu107Lys Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Glu15Lys Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Glu169Gly Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Glu16Gly Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Glu225Gly Multiple submitters infantile convulsions and choreoathetosis ⚠
p.Glu29Lys Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Glu7Lys Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Gly195Asp Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Gly213Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly22Ser Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Gly241Ser Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Gly24Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly255Glu Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Gly259Asp Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Gly310Ser Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Gly40Arg Multiple submitters episodic kinesigenic dyskinesia ⚠
p.His232Gln Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Ile270Asn Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Ile270Val Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Ile329Val Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Ile8_Glu10dup Multiple submitters episodic kinesigenic dyskinesia
p.Leu156Phe Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Leu326Ile Multiple submitters episodic kinesigenic dyskinesia 1 ⚠
p.Leu87Val Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Lys116Ile Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Lys206Asn Multiple submitters ⚠
p.Met11Thr Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Pro146Thr Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Pro152His Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Pro18Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro200Arg Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Pro247Arg Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Pro265Thr Multiple submitters infantile convulsions and choreoathetosis ⚠
p.Pro282Ser Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Pro42Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro58Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro91Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser174Arg Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Ser208Phe Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Ser244Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser249Pro Multiple submitters PRRT2-Associated Paroxysmal Movement Disorders ⚠
p.Ser297Arg Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Ser6Phe Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Thr74Asn Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Thr74Ile Multiple submitters ⚠
p.Tyr268del Multiple submitters Inborn genetic diseases
p.Tyr339Cys Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Val218Gly Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Val303Met Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Val319Met Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Val338Glu Multiple submitters episodic kinesigenic dyskinesia ⚠
p.Val338Met Multiple submitters episodic kinesigenic dyskinesia ⚠
c.1012+2T>C Single submitter episodic kinesigenic dyskinesia
c.1012+2T>G Single submitter episodic kinesigenic dyskinesia
c.1012+54G>A Single submitter
c.1012+58_1013del Single submitter episodic kinesigenic dyskinesia
c.1012+5G>A Single submitter
c.1012+5G>T Single submitter episodic kinesigenic dyskinesia 1
c.1012+6T>C Single submitter episodic kinesigenic dyskinesia
c.1013-29C>A Single submitter
c.1013-2A>G Single submitter episodic kinesigenic dyskinesia
c.1013-34C>A Single submitter
c.1013-3C>A Single submitter episodic kinesigenic dyskinesia
c.1013-55_1013-45del Single submitter
c.1013-71del Single submitter
c.879+4A>C Single submitter episodic kinesigenic dyskinesia
c.879+4dup Single submitter episodic kinesigenic dyskinesia
c.880-11C>A Single submitter episodic kinesigenic dyskinesia
c.880-20A>T Single submitter
c.-10C>T Single submitter
c.-65-2dup Single submitter
c.-66+1G>A Single submitter
p.Ala118Asp Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala120Val Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala130Gly Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala183Pro Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala183Ser Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala189Thr Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala197Thr Single submitter ⚠
p.Ala214Asp Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala214Thr Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala214Val Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala287Val Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala289Asp Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala289Thr Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala330Val Single submitter episodic kinesigenic dyskinesia
p.Ala57Asp Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala57Val Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala65Gly Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala68Thr Single submitter Inborn genetic diseases ⚠
p.Ala76Val Single submitter ⚠
p.Ala78Pro Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala78Thr Single submitter episodic kinesigenic dyskinesia ⚠
p.Ala84Asp Single submitter episodic kinesigenic dyskinesia ⚠
p.Arg125Ser Single submitter episodic kinesigenic dyskinesia ⚠
p.Arg145Leu Single submitter episodic kinesigenic dyskinesia ⚠
p.Arg145Pro Single submitter episodic kinesigenic dyskinesia ⚠
p.Arg217Pro Single submitter episodic kinesigenic dyskinesia ⚠
p.Arg227Gln Single submitter episodic kinesigenic dyskinesia ⚠
p.Arg230Lys Single submitter episodic kinesigenic dyskinesia ⚠
p.Arg245_Ser248del Single submitter episodic kinesigenic dyskinesia
p.Arg245His Single submitter episodic kinesigenic dyskinesia ⚠
p.Arg295Pro Single submitter
p.Arg308Gly Single submitter episodic kinesigenic dyskinesia ⚠
p.Arg308Pro Single submitter episodic kinesigenic dyskinesia ⚠
p.Asn212Thr Single submitter Inborn genetic diseases ⚠
p.Asn335Thr Single submitter episodic kinesigenic dyskinesia ⚠
p.Asn98Lys Single submitter ⚠
p.Asn98Ser Single submitter episodic kinesigenic dyskinesia ⚠
p.Asp103Asn Single submitter Inborn genetic diseases ⚠
p.Asp121His Single submitter episodic kinesigenic dyskinesia ⚠
p.Asp143Glu Single submitter ⚠
p.Asp143Tyr Single submitter episodic kinesigenic dyskinesia ⚠
p.Asp165Gly Single submitter episodic kinesigenic dyskinesia ⚠
p.Asp165Tyr Single submitter episodic kinesigenic dyskinesia ⚠
p.Asp191Tyr Single submitter episodic kinesigenic dyskinesia ⚠
p.Asp191Val Single submitter ⚠
p.Asp226Val Single submitter episodic kinesigenic dyskinesia ⚠
p.Asp302Asn Single submitter Inborn genetic diseases
p.Asp302His Single submitter ⚠
p.Asp302Val Single submitter episodic kinesigenic dyskinesia ⚠
p.Asp304_Gly305insValAsp Single submitter episodic kinesigenic dyskinesia
p.Asp304Asn Single submitter infantile convulsions and choreoathetosis ⚠
p.Asp60Ala Single submitter episodic kinesigenic dyskinesia ⚠
p.Asp60Asn Single submitter ⚠
p.Cys99Tyr Single submitter episodic kinesigenic dyskinesia ⚠
p.Gln141Glu Single submitter episodic kinesigenic dyskinesia ⚠
p.Gln157Pro Single submitter ⚠
p.Gln221His Single submitter episodic kinesigenic dyskinesia ⚠
p.Gln299Pro Single submitter episodic kinesigenic dyskinesia ⚠
p.Gln300His Single submitter episodic kinesigenic dyskinesia ⚠
p.Gln307His Single submitter episodic kinesigenic dyskinesia
p.Gln36Arg Single submitter ⚠
p.Gln36His Single submitter episodic kinesigenic dyskinesia ⚠
p.Gln36Lys Single submitter episodic kinesigenic dyskinesia ⚠
p.Gln49Arg Single submitter ⚠
p.Gln49Lys Single submitter episodic kinesigenic dyskinesia ⚠
p.Glu107Asp Single submitter episodic kinesigenic dyskinesia ⚠
p.Glu10Val Single submitter episodic kinesigenic dyskinesia ⚠
p.Glu117Gln Single submitter episodic kinesigenic dyskinesia ⚠
p.Glu159Lys Single submitter episodic kinesigenic dyskinesia ⚠
p.Glu164_Asp165delinsAspHis Single submitter episodic kinesigenic dyskinesia
p.Glu16Gln Single submitter episodic kinesigenic dyskinesia ⚠
p.Glu16Lys Single submitter episodic kinesigenic dyskinesia ⚠
p.Glu180Asp Single submitter Inborn genetic diseases ⚠
p.Glu194Ala Single submitter episodic kinesigenic dyskinesia ⚠
p.Glu194Asp Single submitter ⚠
p.Glu199Asp Single submitter episodic kinesigenic dyskinesia ⚠
p.Glu199Gln Single submitter episodic kinesigenic dyskinesia ⚠
p.Glu225Lys Single submitter ⚠
p.Glu257Lys Single submitter episodic kinesigenic dyskinesia 1 ⚠
p.Glu46Lys Single submitter episodic kinesigenic dyskinesia ⚠
p.Glu7Asp Single submitter Inborn genetic diseases ⚠
p.Glu80Gly Single submitter ⚠
p.Glu94Lys Single submitter episodic kinesigenic dyskinesia ⚠
p.Glu94Val Single submitter ⚠
p.Gly123Val Single submitter episodic kinesigenic dyskinesia ⚠
p.Gly13Glu Single submitter episodic kinesigenic dyskinesia ⚠
p.Gly182Glu Single submitter episodic kinesigenic dyskinesia ⚠
p.Gly190Ala Single submitter episodic kinesigenic dyskinesia ⚠
p.Gly192Arg Single submitter episodic kinesigenic dyskinesia ⚠
p.Gly213Val Single submitter episodic kinesigenic dyskinesia ⚠
p.Gly22Asp Single submitter episodic kinesigenic dyskinesia ⚠
p.Gly234Arg Single submitter ⚠
p.Gly234Glu Single submitter ⚠
p.Gly253Ala Single submitter ⚠
p.Gly253Ser Single submitter episodic kinesigenic dyskinesia ⚠
p.Gly258= Single submitter
p.Gly258Ala Single submitter ⚠
p.Gly259Ala Single submitter Inborn genetic diseases ⚠
p.Gly259Val Single submitter ⚠
p.Gly26Ala Single submitter ⚠
p.Gly26Cys Single submitter episodic kinesigenic dyskinesia ⚠
p.Gly323Trp Single submitter episodic kinesigenic dyskinesia ⚠
p.Gly337Asp Single submitter episodic kinesigenic dyskinesia ⚠
p.Gly33Asp Single submitter episodic kinesigenic dyskinesia ⚠
p.Gly40Glu Single submitter episodic kinesigenic dyskinesia ⚠
p.Gly62Arg Single submitter episodic kinesigenic dyskinesia ⚠
p.Gly62Val Single submitter episodic kinesigenic dyskinesia ⚠
p.Gly92Arg Single submitter episodic kinesigenic dyskinesia ⚠
p.Gly93Glu Single submitter episodic kinesigenic dyskinesia ⚠
p.His201Pro Single submitter episodic kinesigenic dyskinesia ⚠
p.His232Tyr Single submitter ⚠
p.His246Arg Single submitter ⚠
p.His27Pro Single submitter ⚠
p.Ile170Ser Single submitter episodic kinesigenic dyskinesia ⚠
p.Ile285Thr Single submitter episodic kinesigenic dyskinesia ⚠
p.Ile328Leu Single submitter ⚠
p.Ile328Phe Single submitter ⚠
p.Ile328Val Single submitter episodic kinesigenic dyskinesia ⚠
p.Ile329Asn Single submitter infantile convulsions and choreoathetosis ⚠
p.Ile329del Single submitter
p.Ile334del Single submitter episodic kinesigenic dyskinesia
p.Leu271Val Single submitter ⚠
p.Leu298Pro Single submitter episodic kinesigenic dyskinesia ⚠
p.Leu309Pro Single submitter episodic kinesigenic dyskinesia ⚠
p.Leu315Phe Single submitter episodic kinesigenic dyskinesia ⚠
p.Leu315Pro Single submitter ⚠
p.Leu321Val Single submitter episodic kinesigenic dyskinesia ⚠
p.Leu326del Single submitter episodic kinesigenic dyskinesia
p.Leu326Pro Single submitter episodic kinesigenic dyskinesia ⚠
p.Leu38Ile Single submitter episodic kinesigenic dyskinesia ⚠
p.Lys111Glu Single submitter episodic kinesigenic dyskinesia ⚠
p.Lys111Thr Single submitter ⚠
p.Lys12Glu Single submitter episodic kinesigenic dyskinesia ⚠
p.Lys178Asn Single submitter episodic kinesigenic dyskinesia ⚠
p.Lys19Arg Single submitter episodic kinesigenic dyskinesia ⚠
p.Lys207del Single submitter
p.Met11Arg Single submitter ⚠
p.Met11Leu Single submitter episodic kinesigenic dyskinesia ⚠
p.Met1fs Single submitter episodic kinesigenic dyskinesia
p.Met1Thr Single submitter episodic kinesigenic dyskinesia
p.Met280Ile Single submitter episodic kinesigenic dyskinesia ⚠
p.Met280Thr Single submitter seizures, benign familial infantile, 2 ⚠
p.Met280Val Single submitter Inborn genetic diseases ⚠
p.Met293Arg Single submitter ⚠
p.Phe288Leu Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro101Ser Single submitter ⚠
p.Pro104Ser Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro134Arg Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro138Thr Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro140Thr Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro142Leu Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro144Ser Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro150Arg Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro152Arg Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro152Leu Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro152Thr Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro158Ser Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro168Leu Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro168Thr Single submitter ⚠
p.Pro196Ser Single submitter Inborn genetic diseases ⚠
p.Pro200Ser Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro203Arg Single submitter Inborn genetic diseases ⚠
p.Pro203Leu Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro203Ser Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro210Leu Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro215Thr Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro216Ala Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro239Ser Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro247Ile Single submitter episodic kinesigenic dyskinesia
p.Pro254Ala Single submitter ⚠
p.Pro254Arg Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro254Leu Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro25Arg Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro25Leu Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro282= Single submitter episodic kinesigenic dyskinesia
p.Pro282Leu Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro34Leu Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro42Ser Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro48Leu Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro58Ala Single submitter Inborn genetic diseases ⚠
p.Pro58Arg Single submitter episodic kinesigenic dyskinesia ⚠
p.Pro69Thr Single submitter ⚠
p.Pro75Arg Single submitter PRRT2-Related Disorder ⚠
p.Ser124Thr Single submitter episodic kinesigenic dyskinesia ⚠
p.Ser128Thr Single submitter episodic kinesigenic dyskinesia ⚠
p.Ser208Cys Single submitter episodic kinesigenic dyskinesia ⚠
p.Ser233Asn Single submitter episodic kinesigenic dyskinesia ⚠
p.Ser238Cys Single submitter episodic kinesigenic dyskinesia ⚠
p.Ser28Cys Single submitter episodic kinesigenic dyskinesia ⚠
p.Ser28Pro Single submitter episodic kinesigenic dyskinesia ⚠
p.Ser317Arg Single submitter episodic kinesigenic dyskinesia ⚠
p.Ser4Arg Single submitter episodic kinesigenic dyskinesia ⚠
p.Ser5Thr Single submitter episodic kinesigenic dyskinesia ⚠
p.Ser90Arg Single submitter episodic kinesigenic dyskinesia ⚠
p.Ser90Gly Single submitter episodic kinesigenic dyskinesia ⚠
p.Ter341ThrextTer? Single submitter episodic kinesigenic dyskinesia
p.Ter341Trp Single submitter episodic kinesigenic dyskinesia
p.Thr108Arg Single submitter episodic kinesigenic dyskinesia ⚠
p.Thr108Ser Single submitter episodic kinesigenic dyskinesia ⚠
p.Thr151Asn Single submitter episodic kinesigenic dyskinesia ⚠
p.Thr162Ile Single submitter episodic kinesigenic dyskinesia ⚠