PNKD — 604 ClinVar variants

All ClinVar germline PNKD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 266 flagged for review →

1 Likely pathogenic · 23 Conflicting · 55 Benign · 15 Benign/Likely benign · 184 Likely benign · 326 Uncertain significance

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

⚑ Evidence disagreements 266

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 13

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

PNKD p.Ala33Pro Conflicting Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ala349Val Conflicting Single submitter
Inborn genetic diseases
PNKD p.Arg114Cys Conflicting Single submitter
Inborn genetic diseases
PNKD p.Arg187Trp Conflicting Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg262Gln Conflicting Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg320Gln Conflicting Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg368Trp Conflicting Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg376Cys Conflicting Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg98Leu Conflicting Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Asn117Ser Conflicting Single submitter
Inborn genetic diseases
PNKD p.His108Arg Conflicting Single submitter
paroxysmal nonkinesigenic dyskinesia 1
PNKD p.Thr111Ala Conflicting Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Thr38Ile Conflicting Single submitter
paroxysmal nonkinesigenic dyskinesia

Predictors lean, ClinVar uncertain 189

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 189

PNKD p.Ala167Thr Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ala28Gly Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg101Pro Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg114His Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia 1
PNKD p.Arg152Trp Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg186Gln Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg322Trp Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg325Cys Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg368Gln Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg377Gln Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg94Gln Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg98His Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Asn267Lys Uncertain significance Multiple submitters
Inborn genetic diseases
PNKD p.Asp137Asn Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Asp190Asn Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Asp284Glu Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Asp364Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PNKD p.Asp365Val Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Glu48Lys Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gly180Arg Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gly195Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PNKD p.Gly240Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PNKD p.Gly280Val Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.His210Asn Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia 1
PNKD p.Ile124Val Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ile135Thr Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Leu184Pro Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Leu371Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PNKD p.Lys385Glu Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Pro123Leu Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia 1
PNKD p.Pro356Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PNKD p.Pro358Leu Uncertain significance Multiple submitters
Inborn genetic diseases
PNKD p.Ser178Arg Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ser43Arg Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Thr226Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PNKD p.Thr328Met Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Thr38Ser Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Tyr293Cys Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ala140Val Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ala143Pro Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ala143Ser Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ala143Thr Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ala167Val Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ala223Thr Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ala26Thr Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ala26Val Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ala301Val Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ala33Ser Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ala353Ser Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ala369Ser Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ala74Ser Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ala78Gly Uncertain significance Single submitter
PNKD p.Arg103His Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg182Cys Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg182His Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg189Leu Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg189Pro Uncertain significance Single submitter
Inborn genetic diseases
PNKD p.Arg192Gln Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg19Gly Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg222Gln Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg262Trp Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg320Gly Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg325His Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg376His Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg377Trp Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg39Pro Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg39Trp Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Asn181His Uncertain significance Single submitter
Inborn genetic diseases
PNKD p.Asn31Asp Uncertain significance Single submitter
PNKD p.Asp147Glu Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Asp150Tyr Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Asp176Asn Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Asp176Glu Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Asp199Asn Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Asp239Val Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Asp253Val Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Asp276Ala Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Asp364Gly Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Cys170Tyr Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Cys191Tyr Uncertain significance Single submitter
Inborn genetic diseases
PNKD p.Cys260Ser Uncertain significance Single submitter
Inborn genetic diseases
PNKD p.Gln139Glu Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gln220Glu Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gln231Lys Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gln231Pro Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gln321Arg Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gln351Arg Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gln370Lys Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Glu161Lys Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Glu265Lys Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Glu269Asp Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Glu335Lys Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Glu336Lys Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Glu373Lys Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Glu374Lys Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gly107Ala Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gly107Val Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gly179Val Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gly200Ala Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gly252Trp Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gly27Arg Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gly280Glu Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gly290Asp Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gly49Asp Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gly68Ala Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gly68Val Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gly89Ala Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.His108Asn Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.His172Gln Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.His206Gln Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia 1
PNKD p.His233Arg Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.His291Pro Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.His35Tyr Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.His382Gln Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ile124Asn Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ile135Met Uncertain significance Single submitter
Inborn genetic diseases
PNKD p.Leu115Val Uncertain significance Single submitter
PNKD-related disorder
PNKD p.Leu169Met Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Leu204Val Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Leu249Phe Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Leu286Pro Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Leu309Pro Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Leu333Arg Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Leu343Val Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Leu372Arg Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Leu372Pro Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia 1
PNKD p.Leu41Pro Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia 1
PNKD p.Leu77Val Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Lys106Asn Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia 1
PNKD p.Lys160Arg Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Lys244Glu Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Lys385Arg Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Phe300Leu Uncertain significance Single submitter
Inborn genetic diseases
PNKD p.Pro105Leu Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Pro113Ala Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Pro125Arg Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Pro148Ala Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Pro197Arg Uncertain significance Single submitter
Inborn genetic diseases
PNKD p.Pro227Ala Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Pro227Ser Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Pro242Arg Uncertain significance Single submitter
PNKD p.Pro242Ser Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Pro289Ala Uncertain significance Single submitter
Inborn genetic diseases
PNKD p.Pro306Ser Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Pro330Arg Uncertain significance Single submitter
PNKD p.Pro330Leu Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Pro341Arg Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Pro341Ser Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Pro358Ser Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Pro360Arg Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia

Predictors split 64

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

PNKD c.236+10465G>A Benign/Likely benign Multiple submitters
PNKD p.Ala78Val Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg101Gln Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg192Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PNKD p.Arg218Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PNKD p.Arg222Trp Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg311Gln Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg320Trp Uncertain significance Multiple submitters
PNKD-related disorder
PNKD p.Arg322Gln Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg337Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PNKD p.Arg337His Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg368Gly Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg85Cys Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Glu159Val Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia 1
PNKD p.Glu305Asp Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gly76Arg Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ser109Leu Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ser128Leu Uncertain significance Multiple submitters
paroxysmal nonkinesigenic dyskinesia
PNKD p.Tyr90Cys Uncertain significance Multiple submitters
Inborn genetic diseases
PNKD p.Ala100Val Conflicting Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ala143Gly Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ala225Thr Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg101Trp Conflicting Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg103Cys Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg186Trp Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg218Leu Uncertain significance Single submitter
PNKD p.Arg311Gly Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg311Trp Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Arg313Trp Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Asp190Tyr Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Cys347Tyr Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gln155His Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Glu265Asp Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Glu292Asp Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Gly245Cys Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia 1
PNKD p.Gly302Asp Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.His174Gln Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.His346Tyr Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ile124Thr Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ile136Met Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ile221Met Likely benign Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Leu127His Uncertain significance Single submitter
Inborn genetic diseases
PNKD p.Leu257Pro Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Leu281Ile Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Leu77Pro Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Lys120Arg Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Lys314Arg Uncertain significance Single submitter
PNKD p.Lys383Asn Likely benign Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Met271Val Uncertain significance Single submitter
PNKD p.Phe116Leu Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Phe256Leu Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Pro71Ala Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Ser132Gly Uncertain significance Single submitter
PNKD p.Thr205Asn Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Thr270Ile Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Thr328Ser Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Thr84Ile Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Thr86Ile Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Tyr62Cys Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Tyr62His Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Val119Ala Uncertain significance Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Val144Leu Likely benign Single submitter
paroxysmal nonkinesigenic dyskinesia
PNKD p.Val144Met Uncertain significance Single submitter
PNKD p.Val216Met Conflicting Single submitter
paroxysmal nonkinesigenic dyskinesia

All PNKD variants

Likely pathogenic 1

p.Arg98Pro Single submitter

Conflicting classifications of pathogenicity 23

c.236+1171G>T Single submitter PNKD-related disorder
c.466-3C>A Single submitter young-onset Parkinson disease
c.*155C>T Single submitter paroxysmal nonkinesigenic dyskinesia 1
p.Ala100Val Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ala26fs Single submitter paroxysmal nonkinesigenic dyskinesia
p.Ala33Pro Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ala349Val Single submitter Inborn genetic diseases ⚠
p.Arg101Trp Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg114Cys Single submitter Inborn genetic diseases ⚠
p.Arg187Trp Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg262Gln Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg320Gln Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg368Trp Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg376Cys Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg98Leu Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Asn117Ser Single submitter Inborn genetic diseases ⚠
p.Asp199= Single submitter paroxysmal nonkinesigenic dyskinesia 1
p.Glu296Gly Single submitter Inborn genetic diseases
p.His108Arg Single submitter paroxysmal nonkinesigenic dyskinesia 1 ⚠
p.Thr111Ala Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Thr328= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Thr38Ile Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Val216Met Single submitter paroxysmal nonkinesigenic dyskinesia ⚠

Benign 55

c.236+4016G>C Multiple submitters
c.236+4113A>G Multiple submitters
c.237-16269G>A Multiple submitters
c.237-16605C>T Multiple submitters
c.237-16671T>C Multiple submitters
c.237-16766C>T Multiple submitters
c.237-31G>T Multiple submitters
c.353-24C>T Multiple submitters
c.466-11C>T Multiple submitters paroxysmal nonkinesigenic dyskinesia
c.524+108G>A Multiple submitters
c.524+120C>T Multiple submitters
c.524+13C>T Multiple submitters paroxysmal nonkinesigenic dyskinesia 1
c.617+143T>C Multiple submitters
c.617+86C>G Multiple submitters
c.618-59A>G Multiple submitters
c.68-174C>T Multiple submitters
c.781+52C>T Multiple submitters
c.984+100A>G Multiple submitters
c.*1077G>A Multiple submitters paroxysmal nonkinesigenic dyskinesia 1
c.*1193C>T Multiple submitters paroxysmal nonkinesigenic dyskinesia 1
c.*181G>C Multiple submitters paroxysmal nonkinesigenic dyskinesia 1
c.*507G>C Multiple submitters paroxysmal nonkinesigenic dyskinesia 1
c.*902T>C Multiple submitters paroxysmal nonkinesigenic dyskinesia 1
c.*92C>A Multiple submitters paroxysmal nonkinesigenic dyskinesia 1
p.Arg152Gln Multiple submitters paroxysmal nonkinesigenic dyskinesia 1
p.Arg218= Multiple submitters paroxysmal nonkinesigenic dyskinesia 1
p.Arg313= Multiple submitters paroxysmal nonkinesigenic dyskinesia 1
p.Gly162= Multiple submitters paroxysmal nonkinesigenic dyskinesia 1
p.Leu279= Multiple submitters paroxysmal nonkinesigenic dyskinesia
p.Pro341= Multiple submitters paroxysmal nonkinesigenic dyskinesia
c.236+1180G>A Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.237-16039C>T Single submitter
c.237-16063T>G Single submitter
c.237-16078C>A Single submitter
c.237-16733_237-16732dup Single submitter
c.237-16808G>A Single submitter
c.237-16903C>A Single submitter
c.237-8707G>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.352+19G>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.525-120C>T Single submitter
c.525-193G>A Single submitter
c.782-246A>G Single submitter
c.868+168C>G Single submitter
c.*1139C>G Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*1141G>A Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*1549G>A Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*1665G>A Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*1723T>C Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*1725T>C Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*33C>T Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*38G>A Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*451A>G Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*607T>C Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*982C>T Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*992C>G Single submitter paroxysmal nonkinesigenic dyskinesia 1

Benign/Likely benign 15

c.236+10465G>A Multiple submitters ⚠
c.236+1069G>A Multiple submitters
c.236+18C>G Multiple submitters paroxysmal nonkinesigenic dyskinesia
c.237-9G>A Multiple submitters paroxysmal nonkinesigenic dyskinesia
c.352+12C>T Multiple submitters paroxysmal nonkinesigenic dyskinesia 1
c.353-26C>T Multiple submitters
c.781+12C>T Multiple submitters paroxysmal nonkinesigenic dyskinesia 1
c.781+16AG[3] Multiple submitters paroxysmal nonkinesigenic dyskinesia
c.*211C>T Multiple submitters paroxysmal nonkinesigenic dyskinesia 1
p.Arg187Gln Multiple submitters paroxysmal nonkinesigenic dyskinesia
p.Arg218Gln Multiple submitters paroxysmal nonkinesigenic dyskinesia 1
p.Arg85His Multiple submitters paroxysmal nonkinesigenic dyskinesia 1
p.Glu307Lys Multiple submitters paroxysmal nonkinesigenic dyskinesia
p.Gly89Arg Multiple submitters paroxysmal nonkinesigenic dyskinesia 1
p.Met381_His382del Multiple submitters paroxysmal nonkinesigenic dyskinesia

Likely benign 184

c.236+1179C>T Multiple submitters
c.781+13G>A Multiple submitters paroxysmal nonkinesigenic dyskinesia
c.868+80C>T Multiple submitters
c.984+11C>T Multiple submitters paroxysmal nonkinesigenic dyskinesia
c.984+18C>T Multiple submitters paroxysmal nonkinesigenic dyskinesia
c.985-31C>G Multiple submitters
p.Ala145= Multiple submitters paroxysmal nonkinesigenic dyskinesia
p.Ala310= Multiple submitters paroxysmal nonkinesigenic dyskinesia
p.Asn181= Multiple submitters paroxysmal nonkinesigenic dyskinesia
p.Glu312= Multiple submitters paroxysmal nonkinesigenic dyskinesia
p.Ile63= Multiple submitters paroxysmal nonkinesigenic dyskinesia
p.Leu204= Multiple submitters paroxysmal nonkinesigenic dyskinesia
p.Lys50= Multiple submitters paroxysmal nonkinesigenic dyskinesia
p.Pro356= Multiple submitters paroxysmal nonkinesigenic dyskinesia
p.Pro358= Multiple submitters paroxysmal nonkinesigenic dyskinesia
p.Pro55= Multiple submitters paroxysmal nonkinesigenic dyskinesia
p.Val166= Multiple submitters paroxysmal nonkinesigenic dyskinesia
p.Pro358= Single submitter
c.236+1027C>T Single submitter
c.236+1068G>A Single submitter
c.236+1144G>A Single submitter
c.236+1185C>G Single submitter
c.236+15C>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.236+15C>G Single submitter paroxysmal nonkinesigenic dyskinesia
c.236+15C>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.236+18C>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.236+721C>T Single submitter
c.236+8T>C Single submitter paroxysmal nonkinesigenic dyskinesia
c.237-10C>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.237-11T>C Single submitter paroxysmal nonkinesigenic dyskinesia
c.237-14C>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.237-16375C>A Single submitter
c.237-16381G>A Single submitter
c.237-16417C>T Single submitter
c.237-16485C>T Single submitter
c.237-16768G>A Single submitter
c.237-16770G>T Single submitter
c.237-16829G>A Single submitter
c.237-219C>T Single submitter
c.237-4C>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.237-8707G>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.352+10G>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.352+13_352+15del Single submitter paroxysmal nonkinesigenic dyskinesia
c.352+15C>G Single submitter paroxysmal nonkinesigenic dyskinesia
c.352+18C>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.353-14A>G Single submitter paroxysmal nonkinesigenic dyskinesia
c.353-16C>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.353-6C>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.466-10T>C Single submitter paroxysmal nonkinesigenic dyskinesia
c.466-13del Single submitter paroxysmal nonkinesigenic dyskinesia
c.466-15T>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.466-15T>C Single submitter paroxysmal nonkinesigenic dyskinesia
c.466-4G>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.466-7C>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.466-9C>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.524+11C>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.524+14G>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.524+17T>C Single submitter paroxysmal nonkinesigenic dyskinesia
c.524+18T>C Single submitter paroxysmal nonkinesigenic dyskinesia
c.524+73G>A Single submitter
c.524+8G>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.525-10T>C Single submitter paroxysmal nonkinesigenic dyskinesia
c.525-11C>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.525-18G>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.525-9G>C Single submitter paroxysmal nonkinesigenic dyskinesia
c.617+17G>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.618-13C>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.618-16C>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.618-58C>T Single submitter
c.618-7T>G Single submitter paroxysmal nonkinesigenic dyskinesia
c.618-9G>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.67+12G>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.68-130C>G Single submitter
c.68-14A>G Single submitter paroxysmal nonkinesigenic dyskinesia
c.68-7T>C Single submitter paroxysmal nonkinesigenic dyskinesia
c.781+12C>G Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.781+13G>C Single submitter paroxysmal nonkinesigenic dyskinesia
c.781+17G>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.781+19G>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.781+297T>C Single submitter
c.781+7T>C Single submitter paroxysmal nonkinesigenic dyskinesia
c.781+87C>T Single submitter
c.782-14C>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.782-15C>G Single submitter paroxysmal nonkinesigenic dyskinesia
c.782-18C>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.782-19C>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.782-239C>T Single submitter
c.782-5C>T Single submitter
c.782-7C>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.782-8C>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.868+10C>G Single submitter paroxysmal nonkinesigenic dyskinesia
c.868+10C>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.868+17C>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.868+18T>C Single submitter paroxysmal nonkinesigenic dyskinesia
c.868+7C>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.868+8_868+20del Single submitter paroxysmal nonkinesigenic dyskinesia
c.869-15C>G Single submitter paroxysmal nonkinesigenic dyskinesia
c.869-17C>G Single submitter paroxysmal nonkinesigenic dyskinesia
c.869-251G>A Single submitter
c.869-6C>T Single submitter paroxysmal nonkinesigenic dyskinesia
c.984+12G>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.984+12G>C Single submitter paroxysmal nonkinesigenic dyskinesia
c.984+14_984+15del Single submitter paroxysmal nonkinesigenic dyskinesia
c.984+14G>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.984+7G>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.985-16T>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.985-6C>G Single submitter paroxysmal nonkinesigenic dyskinesia
c.985-9C>T Single submitter paroxysmal nonkinesigenic dyskinesia
p.Ala145Pro Single submitter
p.Ala167= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Ala223= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Ala30= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Ala33= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Ala349= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Arg103= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Arg114= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Arg189Gln Single submitter paroxysmal nonkinesigenic dyskinesia
p.Arg192= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Arg337= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Arg368= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Arg94= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Asn36= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Asp190His Single submitter paroxysmal nonkinesigenic dyskinesia 1
p.Asp365= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Cys170= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Gln316= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Glu324= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Gly107= Single submitter
p.Gly14= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Gly180= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Gly23= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Gly232= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Gly302= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Gly357= Single submitter
p.His177= Single submitter paroxysmal nonkinesigenic dyskinesia
p.His233= Single submitter paroxysmal nonkinesigenic dyskinesia
p.His291= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Ile136= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Ile221Met Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Leu184Phe Single submitter paroxysmal nonkinesigenic dyskinesia
p.Leu25= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Leu298= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Leu372= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Leu56= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Leu60= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Leu82= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Leu88= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Leu91= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Lys120= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Lys326= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Lys383Asn Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Lys385= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Pro125= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Pro148Thr Single submitter paroxysmal nonkinesigenic dyskinesia
p.Pro151= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Pro246= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Pro306= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Pro47= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Pro53= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Pro58= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Ser109= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Ser128= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Ser157= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Ser215= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Ser273= Single submitter
p.Ser274= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Ser43= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Ser46= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Thr111= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Thr138= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Thr164= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Thr263= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Thr285= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Thr332= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Tyr194= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Tyr203= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Val119= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Val144Leu Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Val154= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Val193= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Val213= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Val216= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Val235= Single submitter paroxysmal nonkinesigenic dyskinesia
c.237-16519dup No assertion criteria PNKD-related disorder

Uncertain significance 326

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

c.237-16374C>T Multiple submitters paroxysmal nonkinesigenic dyskinesia 1
c.458_465+1del Multiple submitters paroxysmal nonkinesigenic dyskinesia
c.465+3G>A Multiple submitters paroxysmal nonkinesigenic dyskinesia
c.617+5G>C Multiple submitters paroxysmal nonkinesigenic dyskinesia
c.984+1G>A Multiple submitters paroxysmal nonkinesigenic dyskinesia
c.984+2T>G Multiple submitters paroxysmal nonkinesigenic dyskinesia 1
p.Ala167Thr Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Ala28Gly Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Ala78Val Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg101Gln Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg101Pro Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg114His Multiple submitters paroxysmal nonkinesigenic dyskinesia 1 ⚠
p.Arg152Trp Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg186Gln Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg192Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg218Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg222Trp Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg311Gln Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg320Trp Multiple submitters PNKD-related disorder ⚠
p.Arg322Gln Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg322Trp Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg325Cys Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg337Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg337His Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg368Gln Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg368Gly Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg377Gln Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg85Cys Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg94Gln Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg98His Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Asn267Lys Multiple submitters Inborn genetic diseases ⚠
p.Asp137Asn Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Asp190Asn Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Asp284Glu Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Asp364Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp365Val Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Glu159Val Multiple submitters paroxysmal nonkinesigenic dyskinesia 1 ⚠
p.Glu305Asp Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Glu48Lys Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Gly180Arg Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Gly195Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly240Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly280Val Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Gly76Arg Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.His210Asn Multiple submitters paroxysmal nonkinesigenic dyskinesia 1 ⚠
p.Ile124Val Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Ile135Thr Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Leu184Pro Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Leu371Pro Multiple submitters Inborn genetic diseases ⚠
p.Lys385Glu Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Pro123Leu Multiple submitters paroxysmal nonkinesigenic dyskinesia 1 ⚠
p.Pro356Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro358fs Multiple submitters paroxysmal nonkinesigenic dyskinesia
p.Pro358Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser109Leu Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Ser128Leu Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Ser178Arg Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Ser178Thr Multiple submitters Inborn genetic diseases
p.Ser196fs Multiple submitters paroxysmal nonkinesigenic dyskinesia
p.Ser43Arg Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Ser81Arg Multiple submitters paroxysmal nonkinesigenic dyskinesia
p.Thr226Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr328Met Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Thr38Ser Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Tyr236Ter Multiple submitters paroxysmal nonkinesigenic dyskinesia
p.Tyr293Cys Multiple submitters paroxysmal nonkinesigenic dyskinesia ⚠
p.Tyr90Cys Multiple submitters Inborn genetic diseases ⚠
c.232_236+3del Single submitter paroxysmal nonkinesigenic dyskinesia
c.236+1049_236+1051del Single submitter
c.236+3G>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.236+6T>C Single submitter paroxysmal nonkinesigenic dyskinesia
c.237-10C>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.237-16514T>A Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.352+1G>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.353-2A>G Single submitter paroxysmal nonkinesigenic dyskinesia
c.353-9T>G Single submitter paroxysmal nonkinesigenic dyskinesia
c.465+2T>G Single submitter paroxysmal nonkinesigenic dyskinesia
c.466-5C>G Single submitter paroxysmal nonkinesigenic dyskinesia
c.466-9C>G Single submitter paroxysmal nonkinesigenic dyskinesia
c.525-3C>A Single submitter
c.618-2A>G Single submitter paroxysmal nonkinesigenic dyskinesia
c.781+5G>C Single submitter paroxysmal nonkinesigenic dyskinesia
c.782-7C>G Single submitter paroxysmal nonkinesigenic dyskinesia
c.869-5G>A Single submitter paroxysmal nonkinesigenic dyskinesia
c.985-1G>C Single submitter paroxysmal nonkinesigenic dyskinesia
c.*1118T>A Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*1216G>A Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*1305A>G Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*1476A>G Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*1490G>A Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*1569C>T Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*206C>T Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*212G>A Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*253C>T Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*679C>T Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*826G>T Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*838C>T Single submitter paroxysmal nonkinesigenic dyskinesia 1
c.*868T>C Single submitter paroxysmal nonkinesigenic dyskinesia 1
p.Ala140Val Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ala143Gly Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ala143Pro Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ala143Ser Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ala143Thr Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ala167Val Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ala223Thr Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ala225Thr Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ala26Thr Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ala26Val Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ala301Val Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ala33Ser Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ala353Ser Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ala369Ser Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ala74Ser Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ala78Gly Single submitter ⚠
p.Ala9Pro Single submitter
p.Arg103Cys Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg103His Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg182Cys Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg182His Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg186Trp Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg189Leu Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg189Pro Single submitter Inborn genetic diseases ⚠
p.Arg192Gln Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg19Gly Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg218Leu Single submitter ⚠
p.Arg222Gln Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg262Trp Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg311Gly Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg311Trp Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg313Trp Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg320Gly Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg325His Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg376His Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg377Trp Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg39Pro Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg39Trp Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Arg85fs Single submitter
p.Arg94Ter Single submitter paroxysmal nonkinesigenic dyskinesia
p.Arg98Ser Single submitter paroxysmal nonkinesigenic dyskinesia
p.Asn181His Single submitter Inborn genetic diseases ⚠
p.Asn31Asp Single submitter ⚠
p.Asp147Glu Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Asp150Tyr Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Asp176Asn Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Asp176Glu Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Asp190Tyr Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Asp199Asn Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Asp239Val Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Asp253Val Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Asp276Ala Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Asp364Gly Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Cys170Tyr Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Cys191Tyr Single submitter Inborn genetic diseases ⚠
p.Cys260Ser Single submitter Inborn genetic diseases ⚠
p.Cys347Tyr Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gln139Glu Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gln139Ter Single submitter paroxysmal nonkinesigenic dyskinesia
p.Gln155His Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gln220Glu Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gln231Lys Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gln231Pro Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gln319Ter Single submitter paroxysmal nonkinesigenic dyskinesia
p.Gln321Arg Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gln351Arg Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gln370Lys Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gln370Ter Single submitter paroxysmal nonkinesigenic dyskinesia 1
p.Glu161Lys Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Glu265Asp Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Glu265Lys Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Glu269Asp Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Glu292Asp Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Glu324Ter Single submitter paroxysmal nonkinesigenic dyskinesia
p.Glu335Lys Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Glu336Lys Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Glu336Ter Single submitter paroxysmal nonkinesigenic dyskinesia
p.Glu373Lys Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Glu374Lys Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gly107Ala Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gly107Val Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gly179Val Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gly200Ala Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gly232fs Single submitter paroxysmal nonkinesigenic dyskinesia
p.Gly245Cys Single submitter paroxysmal nonkinesigenic dyskinesia 1 ⚠
p.Gly252Trp Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gly27Arg Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gly280Glu Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gly290Asp Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gly302Asp Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gly49Asp Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gly68= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Gly68Ala Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gly68Val Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Gly89Ala Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.His108Asn Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.His172fs Single submitter paroxysmal nonkinesigenic dyskinesia
p.His172Gln Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.His174Gln Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.His206Gln Single submitter paroxysmal nonkinesigenic dyskinesia 1 ⚠
p.His210Gln Single submitter paroxysmal nonkinesigenic dyskinesia
p.His233Arg Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.His291Pro Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.His346Tyr Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.His35Tyr Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.His382Gln Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ile124Asn Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ile124fs Single submitter paroxysmal nonkinesigenic dyskinesia
p.Ile124Thr Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ile135Met Single submitter Inborn genetic diseases ⚠
p.Ile136Met Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Leu115Val Single submitter PNKD-related disorder ⚠
p.Leu127His Single submitter Inborn genetic diseases ⚠
p.Leu169Met Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Leu204Val Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Leu224= Single submitter paroxysmal nonkinesigenic dyskinesia 1
p.Leu224fs Single submitter paroxysmal nonkinesigenic dyskinesia
p.Leu249Phe Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Leu257Pro Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Leu281Ile Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Leu286Pro Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Leu309Pro Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Leu333= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Leu333Arg Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Leu343Val Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Leu372Arg Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Leu372Pro Single submitter paroxysmal nonkinesigenic dyskinesia 1 ⚠
p.Leu41Pro Single submitter paroxysmal nonkinesigenic dyskinesia 1 ⚠
p.Leu77Pro Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Leu77Val Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Lys106Asn Single submitter paroxysmal nonkinesigenic dyskinesia 1 ⚠
p.Lys120Arg Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Lys160Arg Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Lys244Glu Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Lys314Arg Single submitter ⚠
p.Lys379Ter Single submitter paroxysmal nonkinesigenic dyskinesia
p.Lys383fs Single submitter paroxysmal nonkinesigenic dyskinesia
p.Lys385Arg Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Lys50fs Single submitter paroxysmal nonkinesigenic dyskinesia
p.Lys50Ter Single submitter paroxysmal nonkinesigenic dyskinesia
p.Lys66Glu Single submitter paroxysmal nonkinesigenic dyskinesia
p.Met1Leu Single submitter
p.Met271Val Single submitter ⚠
p.Phe116Leu Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Phe256Leu Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Phe300Leu Single submitter Inborn genetic diseases ⚠
p.Phe342fs Single submitter paroxysmal nonkinesigenic dyskinesia
p.Pro105Leu Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Pro113Ala Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Pro125Arg Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Pro148Ala Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Pro197Arg Single submitter Inborn genetic diseases ⚠
p.Pro227Ala Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Pro227Ser Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Pro242Arg Single submitter ⚠
p.Pro242Ser Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Pro289= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Pro289Ala Single submitter Inborn genetic diseases ⚠
p.Pro306Ser Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Pro330Arg Single submitter ⚠
p.Pro330Leu Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Pro341Arg Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Pro341Ser Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Pro358Ser Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Pro360Arg Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Pro360Leu Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Pro360Ser Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Pro47Ser Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Pro58Ala Single submitter Inborn genetic diseases ⚠
p.Pro58Leu Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Pro71Ala Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ser128Pro Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ser132Gly Single submitter ⚠
p.Ser157Thr Single submitter Inborn genetic diseases ⚠
p.Ser157Tyr Single submitter ⚠
p.Ser178Asn Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ser185Thr Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ser196Gly Single submitter Inborn genetic diseases ⚠
p.Ser196Thr Single submitter paroxysmal nonkinesigenic dyskinesia
p.Ser258Phe Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ser331Pro Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ser338del Single submitter paroxysmal nonkinesigenic dyskinesia
p.Ser338Pro Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ser34Cys Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ser384= Single submitter paroxysmal nonkinesigenic dyskinesia
p.Ser384Cys Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Ser45Thr Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Thr164Ala Single submitter paroxysmal nonkinesigenic dyskinesia 1 ⚠
p.Thr205Asn Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Thr270Ile Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Thr285Asn Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Thr328Ala Single submitter Inborn genetic diseases ⚠
p.Thr328Ser Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Thr332Ala Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Thr361Ala Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Thr38Pro Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Thr84Ile Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Thr86Ile Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Trp288Arg Single submitter ⚠
p.Trp288Ter Single submitter paroxysmal nonkinesigenic dyskinesia
p.Trp317Arg Single submitter paroxysmal nonkinesigenic dyskinesia ⚠
p.Trp317Ter Single submitter