PRICKLE1 — 513 ClinVar variants

All ClinVar germline PRICKLE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 265 flagged for review →

1 Pathogenic · 12 Conflicting · 26 Benign · 10 Benign/Likely benign · 160 Likely benign · 304 Uncertain significance

Full PRICKLE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 265

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 7

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

PRICKLE1 p.Asn662Ser Conflicting Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gln630Glu Conflicting Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Glu454Lys Conflicting Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Pro38Leu Conflicting Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Pro802Ser Conflicting Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ser739Phe Conflicting Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Thr691Ala Conflicting Single submitter
epilepsy, progressive myoclonic, 1B

Predictors lean, ClinVar uncertain 203

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 203

PRICKLE1 p.Ala145Val Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ala34Thr Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ala34Val Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ala492Thr Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ala506Thr Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg144Cys Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg144His Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg534Gln Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg534Trp Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg648Gly Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg648Trp Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg674His Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg676Gln Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg702Gln Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg702Trp Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg787Trp Uncertain significance Multiple submitters
Seizure
PRICKLE1 p.Asn554His Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asn579Ser Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asn715Lys Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asn81His Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asp707Gly Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Cys523Tyr Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Glu4Lys Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Glu757Lys Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gly255Glu Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gly552Glu Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gly641Glu Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gly742Ser Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.His442Tyr Uncertain significance Multiple submitters
PRICKLE1 p.Ile444Leu Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ile69Thr Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Leu131Val Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Leu480Val Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Leu502Arg Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Lys233Asn Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Lys285Gln Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Lys465Glu Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Met122Val Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Met448Leu Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Met471Thr Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Met9Val Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Phe238Ser Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Pro609Leu Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ser507Leu Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ser532Asn Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ser559Leu Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ser591Thr Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ser668Thr Uncertain significance Multiple submitters
PRICKLE1 p.Thr223Met Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Tyr709Cys Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Tyr731Cys Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Val149Met Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Val550Met Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Val660Ile Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ala139Thr Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ala145Thr Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ala248Val Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ala286Val Uncertain significance Single submitter
PRICKLE1 p.Ala541Ser Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ala723Thr Uncertain significance Single submitter
PRICKLE1 p.Ala728Val Uncertain significance Single submitter
PRICKLE1 p.Arg144Leu Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg190Trp Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg236His Uncertain significance Single submitter
PRICKLE1 p.Arg438Gln Uncertain significance Single submitter
PRICKLE1 p.Arg438Pro Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg648Gln Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg657Gln Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg674Pro Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg675His Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg68Gln Uncertain significance Single submitter
PRICKLE1 p.Arg68Trp Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg719Gln Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg719Leu Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg719Trp Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg750Gln Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg787Gln Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asn134His Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asn433Lys Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asn433Ser Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asn458His Uncertain significance Single submitter
PRICKLE1 p.Asn544Ser Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asn640Ser Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asn708Asp Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asn749His Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asp167Asn Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asp424Gly Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asp699Glu Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asp729Gly Uncertain significance Single submitter
PRICKLE1 p.Asp740Asn Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asp740Tyr Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asp759Asn Uncertain significance Single submitter
PRICKLE1 p.Asp759Gly Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Cys150Arg Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Cys16Tyr Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Cys240Ser Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Cys603Arg Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gln431Arg Uncertain significance Single submitter
PRICKLE1 p.Gln475Arg Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gln475His Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gln630Lys Uncertain significance Single submitter
PRICKLE1 p.Gln809Glu Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Glu196Lys Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Glu202Lys Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Glu249Ala Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Glu434Asp Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Glu43Gly Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Glu54Asp Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Glu575Asp Uncertain significance Single submitter
PRICKLE1 p.Glu593Asp Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Glu611Asp Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gly136Ser Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gly15Ser Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gly180Val Uncertain significance Single submitter
PRICKLE1 p.Gly508Arg Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gly64Glu Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gly742Val Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gly756Arg Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gly756Ser Uncertain significance Single submitter
PRICKLE1 p.Gly811Ser Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gly822Val Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gly825Ser Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.His504Arg Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.His589Gln Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.His589Leu Uncertain significance Single submitter
PRICKLE1 p.His671Leu Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.His67Asn Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.His736Pro Uncertain significance Single submitter
PRICKLE1 p.His79Leu Uncertain significance Single submitter
PRICKLE1 p.Ile133Met Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ile197Thr Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ile258Thr Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ile444Val Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ile69Val Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ile721Met Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ile725Met Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Leu497Pro Uncertain significance Single submitter
PRICKLE1 p.Leu563Pro Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Leu588Val Uncertain significance Single submitter
PRICKLE1 p.Leu703Val Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Leu72Val Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Leu730His Uncertain significance Single submitter
PRICKLE1 p.Leu752Pro Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Leu805Val Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Lys304Glu Uncertain significance Single submitter
PRICKLE1 p.Lys596Asn Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Lys623Arg Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Lys694Arg Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Lys816Glu Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Lys820Arg Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B

Predictors split 55

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

PRICKLE1 p.Ala142Thr Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg209Cys Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg209His Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg676Trp Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asp201Asn Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asp482Asn Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gln17Pro Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gly235Ser Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gly269Arg Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gly479Arg Uncertain significance Multiple submitters
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.His257Arg Uncertain significance Multiple submitters
PRICKLE1 p.Leu540Ser Uncertain significance Multiple submitters
PRICKLE1 p.Ala686Thr Uncertain significance Single submitter
PRICKLE1 p.Arg119Thr Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg236Cys Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg236Leu Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg620Gly Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg674Cys Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg677Ser Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Arg679Ser Uncertain significance Single submitter
PRICKLE1 p.Asn584Lys Uncertain significance Single submitter
PRICKLE1 p.Asn61Asp Uncertain significance Single submitter
PRICKLE1 p.Asn685Asp Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asp24Glu Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asp538Ala Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Asp538Gly Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Cys346Arg Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Cys763Tyr Uncertain significance Single submitter
PRICKLE1 p.Glu55Lys Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Glu654Lys Uncertain significance Single submitter
PRICKLE1 p.Glu775Gly Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Gly547Glu Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.His79Gln Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ile114Thr Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ile258Val Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Leu52Val Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Lys214Thr Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Lys623Asn Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Met232Val Uncertain significance Single submitter
PRICKLE1 p.Met652Ile Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Phe633Leu Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Pro42Ser Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Pro491Ser Uncertain significance Single submitter
PRICKLE1 p.Pro651Leu Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Pro782Ser Uncertain significance Single submitter
PRICKLE1 p.Ser154Phe Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ser493Arg Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ser536Leu Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Ser768Phe Uncertain significance Single submitter
PRICKLE1 p.Thr160Met Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Trp443Arg Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Tyr74Asn Uncertain significance Single submitter
epilepsy, progressive myoclonic, 1B
PRICKLE1 p.Tyr777Cys Uncertain significance Single submitter
PRICKLE1 p.Val157Phe Uncertain significance Single submitter
PRICKLE1 p.Tyr472His Pathogenic No assertion criteria
epilepsy, progressive myoclonic, 1B

All PRICKLE1 variants

Pathogenic 1

p.Tyr472His No assertion criteria epilepsy, progressive myoclonic, 1B ⚠

Conflicting classifications of pathogenicity 12

c.1639+3A>G Single submitter epilepsy, progressive myoclonic, 1B
p.Ala145= Single submitter epilepsy, progressive myoclonic, 1B
p.Asn662Ser Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Gln630Glu Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Glu454Lys Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Leu754= Single submitter epilepsy, progressive myoclonic, 1B
p.Pro38= Single submitter epilepsy, progressive myoclonic, 1B
p.Pro38Leu Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Pro802Ser Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ser487= Single submitter epilepsy, progressive myoclonic, 1B
p.Ser739Phe Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Thr691Ala Single submitter epilepsy, progressive myoclonic, 1B ⚠

Benign 26

c.132+122T>C Multiple submitters
c.1639+60A>C Multiple submitters
c.247-127C>T Multiple submitters
c.384+81G>C Multiple submitters
c.385-119A>C Multiple submitters
c.775+35T>C Multiple submitters
c.-181G>A Multiple submitters
c.*261T>C Multiple submitters
c.*91T>C Multiple submitters
p.Ala124Thr Multiple submitters epilepsy, progressive myoclonic, 1B
p.Asp195= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Phe633= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Ser634= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Val125Ala Multiple submitters epilepsy, progressive myoclonic, 1B
c.132+313G>A Single submitter
c.133-284G>A Single submitter
c.133-289del Single submitter
c.1639+168G>C Single submitter
c.246+247C>T Single submitter
c.247-248_247-247insG Single submitter
c.588+123C>G Single submitter
c.-48-293C>T Single submitter
c.-48-343C>T Single submitter
c.-49+129G>C Single submitter
c.-49+19C>T Single submitter
p.Val125Met Single submitter epilepsy, progressive myoclonic, 1B

Benign/Likely benign 10

c.588+10dup Multiple submitters epilepsy, progressive myoclonic, 1B
c.775+20G>A Multiple submitters epilepsy, progressive myoclonic, 1B
p.Ala248= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Lys623= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Pro746Ser Multiple submitters epilepsy, progressive myoclonic, 1B
p.Ser549= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Tyr59= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Tyr731= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Val157= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Val36= Multiple submitters epilepsy, progressive myoclonic, 1B

Likely benign 160

c.132+20A>G Multiple submitters epilepsy, progressive myoclonic, 1B
c.133-75G>T Multiple submitters
c.246+7T>C Multiple submitters
c.588+10del Multiple submitters epilepsy, progressive myoclonic, 1B
c.588+18C>T Multiple submitters epilepsy, progressive myoclonic, 1B
c.775+9_775+18del Multiple submitters epilepsy, progressive myoclonic, 1B
c.-48-10897G>A Multiple submitters
c.-48-204G>A Multiple submitters
p.Arg813= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Asn688= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Gln726= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Glu499= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Gly481= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Gly732Arg Multiple submitters epilepsy, progressive myoclonic, 1B
p.His511= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Ile177= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Leu12= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Leu521= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Phe428= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Pro63= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Ser20= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Ser543= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Ser772= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Thr160= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Thr223= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Thr453= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Tyr33= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Tyr734= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Tyr755= Multiple submitters epilepsy, progressive myoclonic, 1B
c.132+180A>G Single submitter
c.132+18C>T Single submitter epilepsy, progressive myoclonic, 1B
c.132+20del Single submitter epilepsy, progressive myoclonic, 1B
c.132+57T>C Single submitter
c.133-16A>C Single submitter
c.133-5del Single submitter epilepsy, progressive myoclonic, 1B
c.133-7_133-5del Single submitter epilepsy, progressive myoclonic, 1B
c.133-9C>G Single submitter epilepsy, progressive myoclonic, 1B
c.1639+15G>T Single submitter epilepsy, progressive myoclonic, 1B
c.1639+8_1639+20del Single submitter epilepsy, progressive myoclonic, 1B
c.1640-11C>T Single submitter
c.1640-12C>T Single submitter epilepsy, progressive myoclonic, 1B
c.1640-20T>A Single submitter epilepsy, progressive myoclonic, 1B
c.1640-234CAAAA[2] Single submitter
c.1640-256C>G Single submitter
c.1640-7C>T Single submitter epilepsy, progressive myoclonic, 1B
c.1640-9C>G Single submitter epilepsy, progressive myoclonic, 1B
c.246+11A>T Single submitter epilepsy, progressive myoclonic, 1B
c.246+20G>T Single submitter epilepsy, progressive myoclonic, 1B
c.246+230C>T Single submitter
c.246+8A>G Single submitter epilepsy, progressive myoclonic, 1B
c.246+8A>T Single submitter epilepsy, progressive myoclonic, 1B
c.247-207A>T Single submitter
c.247-20C>T Single submitter epilepsy, progressive myoclonic, 1B
c.384+11C>T Single submitter epilepsy, progressive myoclonic, 1B
c.384+17C>G Single submitter epilepsy, progressive myoclonic, 1B
c.385-20T>G Single submitter epilepsy, progressive myoclonic, 1B
c.385-7T>C Single submitter epilepsy, progressive myoclonic, 1B
c.588+11G>C Single submitter epilepsy, progressive myoclonic, 1B
c.588+17C>A Single submitter
c.588+17C>T Single submitter epilepsy, progressive myoclonic, 1B
c.588+61A>T Single submitter
c.588+8A>G Single submitter epilepsy, progressive myoclonic, 1B
c.589-9T>G Single submitter epilepsy, progressive myoclonic, 1B
c.775+19C>T Single submitter
c.775+216G>A Single submitter
c.775+48G>A Single submitter
c.-14A>G Single submitter
c.-40G>A Single submitter
c.-48-10607G>A Single submitter
c.-48-137G>T Single submitter
p.Ala124= Single submitter epilepsy, progressive myoclonic, 1B
p.Ala184= Single submitter
p.Ala541= Single submitter epilepsy, progressive myoclonic, 1B
p.Ala735= Single submitter
p.Arg209= Single submitter epilepsy, progressive myoclonic, 1B
p.Arg534= Single submitter epilepsy, progressive myoclonic, 1B
p.Arg590= Single submitter epilepsy, progressive myoclonic, 1B
p.Arg627= Single submitter epilepsy, progressive myoclonic, 1B
p.Arg648= Single submitter epilepsy, progressive myoclonic, 1B
p.Arg657= Single submitter epilepsy, progressive myoclonic, 1B
p.Arg659= Single submitter epilepsy, progressive myoclonic, 1B
p.Arg666= Single submitter epilepsy, progressive myoclonic, 1B
p.Arg677= Single submitter epilepsy, progressive myoclonic, 1B
p.Arg68= Single submitter epilepsy, progressive myoclonic, 1B
p.Asn134= Single submitter
p.Asn447= Single submitter epilepsy, progressive myoclonic, 1B
p.Asp174= Single submitter epilepsy, progressive myoclonic, 1B
p.Asp201= Single submitter epilepsy, progressive myoclonic, 1B
p.Asp234= Single submitter epilepsy, progressive myoclonic, 1B
p.Asp519= Single submitter epilepsy, progressive myoclonic, 1B
p.Asp551= Single submitter epilepsy, progressive myoclonic, 1B
p.Asp636= Single submitter epilepsy, progressive myoclonic, 1B
p.Asp796= Single submitter epilepsy, progressive myoclonic, 1B
p.Cys218= Single submitter
p.Cys240= Single submitter epilepsy, progressive myoclonic, 1B
p.Cys254= Single submitter epilepsy, progressive myoclonic, 1B
p.Gln17= Single submitter epilepsy, progressive myoclonic, 1B
p.Gln228= Single submitter
p.Gln457= Single submitter epilepsy, progressive myoclonic, 1B
p.Gln468= Single submitter epilepsy, progressive myoclonic, 1B
p.Gln625= Single submitter epilepsy, progressive myoclonic, 1B
p.Glu163= Single submitter epilepsy, progressive myoclonic, 1B
p.Glu185= Single submitter epilepsy, progressive myoclonic, 1B
p.Glu441= Single submitter epilepsy, progressive myoclonic, 1B
p.Glu454= Single submitter epilepsy, progressive myoclonic, 1B
p.Glu530= Single submitter epilepsy, progressive myoclonic, 1B
p.Glu54= Single submitter epilepsy, progressive myoclonic, 1B
p.Glu720= Single submitter epilepsy, progressive myoclonic, 1B
p.Glu774= Single submitter
p.Gly148= Single submitter epilepsy, progressive myoclonic, 1B
p.Gly180= Single submitter epilepsy, progressive myoclonic, 1B
p.Gly490= Single submitter epilepsy, progressive myoclonic, 1B
p.Gly64= Single submitter epilepsy, progressive myoclonic, 1B
p.Gly825= Single submitter epilepsy, progressive myoclonic, 1B
p.Ile133= Single submitter epilepsy, progressive myoclonic, 1B
p.Ile437= Single submitter epilepsy, progressive myoclonic, 1B
p.Ile829= Single submitter epilepsy, progressive myoclonic, 1B
p.Leu131= Single submitter epilepsy, progressive myoclonic, 1B
p.Leu225= Single submitter epilepsy, progressive myoclonic, 1B
p.Leu30= Single submitter epilepsy, progressive myoclonic, 1B
p.Leu427= Single submitter epilepsy, progressive myoclonic, 1B
p.Leu462= Single submitter epilepsy, progressive myoclonic, 1B
p.Leu52= Single submitter epilepsy, progressive myoclonic, 1B
p.Leu560= Single submitter epilepsy, progressive myoclonic, 1B
p.Leu608= Single submitter epilepsy, progressive myoclonic, 1B
p.Leu703= Single submitter epilepsy, progressive myoclonic, 1B
p.Leu743= Single submitter epilepsy, progressive myoclonic, 1B
p.Lys452= Single submitter epilepsy, progressive myoclonic, 1B
p.Lys66= Single submitter epilepsy, progressive myoclonic, 1B
p.Lys824= Single submitter epilepsy, progressive myoclonic, 1B
p.Phe141= Single submitter epilepsy, progressive myoclonic, 1B
p.Phe663= Single submitter epilepsy, progressive myoclonic, 1B
p.Phe778= Single submitter
p.Pro58= Single submitter epilepsy, progressive myoclonic, 1B
p.Pro617= Single submitter epilepsy, progressive myoclonic, 1B
p.Pro628= Single submitter epilepsy, progressive myoclonic, 1B
p.Pro651= Single submitter epilepsy, progressive myoclonic, 1B
p.Pro697= Single submitter epilepsy, progressive myoclonic, 1B
p.Pro706= Single submitter epilepsy, progressive myoclonic, 1B
p.Pro78= Single submitter epilepsy, progressive myoclonic, 1B
p.Pro801= Single submitter epilepsy, progressive myoclonic, 1B
p.Pro802= Single submitter epilepsy, progressive myoclonic, 1B
p.Ser483= Single submitter epilepsy, progressive myoclonic, 1B
p.Ser532= Single submitter epilepsy, progressive myoclonic, 1B
p.Ser536= Single submitter epilepsy, progressive myoclonic, 1B
p.Ser562= Single submitter epilepsy, progressive myoclonic, 1B
p.Ser600= Single submitter epilepsy, progressive myoclonic, 1B
p.Ser622= Single submitter epilepsy, progressive myoclonic, 1B
p.Ser768= Single submitter epilepsy, progressive myoclonic, 1B
p.Ser770= Single submitter
p.Ser800= Single submitter epilepsy, progressive myoclonic, 1B
p.Thr204= Single submitter epilepsy, progressive myoclonic, 1B
p.Thr691= Single submitter epilepsy, progressive myoclonic, 1B
p.Thr705= Single submitter epilepsy, progressive myoclonic, 1B
p.Thr807= Single submitter epilepsy, progressive myoclonic, 1B
p.Tyr709= Single submitter
p.Tyr794= Single submitter epilepsy, progressive myoclonic, 1B
p.Val149= Single submitter epilepsy, progressive myoclonic, 1B
p.Val166= Single submitter epilepsy, progressive myoclonic, 1B
p.Leu480= No assertion criteria PRICKLE1-related disorder

Uncertain significance 304

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

c.1639+4C>T Multiple submitters epilepsy, progressive myoclonic, 1B
c.384+6C>A Multiple submitters epilepsy, progressive myoclonic, 1B
p.Ala142Thr Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Ala145Val Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Ala34Thr Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Ala34Val Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Ala492Thr Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Ala506Thr Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Arg144Cys Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Arg144His Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Arg209Cys Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Arg209His Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Arg534Gln Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Arg534Trp Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Arg648Gly Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Arg648Trp Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Arg674His Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Arg676Gln Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Arg676Trp Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Arg682Cys Multiple submitters epilepsy, progressive myoclonic, 1B
p.Arg682His Multiple submitters epilepsy, progressive myoclonic, 1B
p.Arg702Gln Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Arg702Trp Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Arg787Trp Multiple submitters Seizure ⚠
p.Asn554His Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Asn579Ser Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Asn715Lys Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Asn81His Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Asp201Asn Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Asp482Asn Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Asp707Gly Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Asp771Asn Multiple submitters epilepsy, progressive myoclonic, 1B
p.Cys217Arg Multiple submitters epilepsy, progressive myoclonic, 1B
p.Cys523Tyr Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Gln17Pro Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Gln44= Multiple submitters epilepsy, progressive myoclonic, 1B
p.Glu4Lys Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Glu757Lys Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Gly235Ser Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Gly255Glu Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Gly269Arg Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Gly479Arg Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Gly552Glu Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Gly641Glu Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Gly742Ser Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.His257Arg Multiple submitters ⚠
p.His442Tyr Multiple submitters ⚠
p.Ile444Leu Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Ile69Thr Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Leu131Val Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Leu3fs Multiple submitters epilepsy, progressive myoclonic, 1B
p.Leu480Val Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Leu502Arg Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Leu540Ser Multiple submitters ⚠
p.Lys233Asn Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Lys285Gln Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Lys465Glu Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Met122Val Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Met448Leu Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Met471Thr Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Met9Val Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Phe238Ser Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Pro609Leu Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Ser507Leu Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Ser532Asn Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Ser549Leu Multiple submitters epilepsy, progressive myoclonic, 1B
p.Ser559Leu Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Ser591Thr Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Ser668Thr Multiple submitters ⚠
p.Thr223Met Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Trp516Ser Multiple submitters epilepsy, progressive myoclonic, 1B
p.Tyr709Cys Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Tyr731Cys Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Val149Met Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Val550Met Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
p.Val660Ile Multiple submitters epilepsy, progressive myoclonic, 1B ⚠
c.132+3dup Single submitter epilepsy, progressive myoclonic, 1B
c.1639+462C>G Single submitter
c.1639+5G>A Single submitter epilepsy, progressive myoclonic, 1B
c.1639+903C>A Single submitter
c.1640-14G>A Single submitter epilepsy, progressive myoclonic, 1B
c.384+3G>A Single submitter epilepsy, progressive myoclonic, 1B
c.588+5A>C Single submitter epilepsy, progressive myoclonic, 1B
c.588+6A>C Single submitter epilepsy, progressive myoclonic, 1B
c.775+3A>G Single submitter epilepsy, progressive myoclonic, 1B
c.-11C>A Single submitter
c.-48-11193G>A Single submitter epilepsy, progressive myoclonic, 1B
c.*552del Single submitter
p.Ala139Thr Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ala142Val Single submitter
p.Ala145Thr Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ala248Val Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ala286Val Single submitter ⚠
p.Ala541Ser Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ala686Thr Single submitter ⚠
p.Ala723Thr Single submitter ⚠
p.Ala728Val Single submitter ⚠
p.Arg119Thr Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Arg144Leu Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Arg190Trp Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Arg236Cys Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Arg236His Single submitter ⚠
p.Arg236Leu Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Arg438Gln Single submitter ⚠
p.Arg438Pro Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Arg620Gly Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Arg648Gln Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Arg657Gln Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Arg674Cys Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Arg674Pro Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Arg675His Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Arg677Ser Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Arg679Ser Single submitter ⚠
p.Arg68Gln Single submitter ⚠
p.Arg68Trp Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Arg719Gln Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Arg719Leu Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Arg719Trp Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Arg750Gln Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Arg787Gln Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Asn134His Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Asn433Lys Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Asn433Ser Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Asn458His Single submitter ⚠
p.Asn544Ser Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Asn584Lys Single submitter ⚠
p.Asn61Asp Single submitter ⚠
p.Asn640Ser Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Asn662fs Single submitter epilepsy, progressive myoclonic, 1B
p.Asn685Asp Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Asn685Ser Single submitter epilepsy, progressive myoclonic, 1B
p.Asn708Asp Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Asn749His Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Asp167Asn Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Asp24Glu Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Asp424Gly Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Asp538Ala Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Asp538Gly Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Asp684Asn Single submitter epilepsy, progressive myoclonic, 1B
p.Asp699Glu Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Asp729Gly Single submitter ⚠
p.Asp740Asn Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Asp740Tyr Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Asp759Asn Single submitter ⚠
p.Asp759Gly Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Asp760del Single submitter epilepsy, progressive myoclonic, 1B
p.Cys150Arg Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Cys158fs Single submitter epilepsy, progressive myoclonic, 1B
p.Cys16Tyr Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Cys240Ser Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Cys346Arg Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Cys603Arg Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Cys603Ter Single submitter
p.Cys763Tyr Single submitter ⚠
p.Gln431Arg Single submitter ⚠
p.Gln46Lys Single submitter
p.Gln475Arg Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Gln475His Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Gln515Ter Single submitter epilepsy, progressive myoclonic, 1B
p.Gln630Lys Single submitter ⚠
p.Gln714Leu Single submitter epilepsy, progressive myoclonic, 1B
p.Gln809Glu Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Glu127fs Single submitter epilepsy, progressive myoclonic, 1B
p.Glu196Lys Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Glu202Lys Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Glu249Ala Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Glu434Asp Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Glu43Gly Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Glu54Asp Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Glu55Lys Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Glu568del Single submitter
p.Glu572fs Single submitter epilepsy, progressive myoclonic, 1B
p.Glu575Asp Single submitter ⚠
p.Glu593Asp Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Glu611Asp Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Glu654Lys Single submitter ⚠
p.Glu775Gly Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Gly136Ser Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Gly15Ser Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Gly180Val Single submitter ⚠
p.Gly508Arg Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Gly547Glu Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Gly64Glu Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Gly732_Tyr734del Single submitter epilepsy, progressive myoclonic, 1B
p.Gly742Val Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Gly756Arg Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Gly756Ser Single submitter ⚠
p.Gly811Ser Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Gly822Val Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Gly825Ser Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.His504Arg Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.His589Gln Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.His589Leu Single submitter ⚠
p.His671Leu Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.His67Asn Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.His736Pro Single submitter ⚠
p.His79Gln Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.His79Leu Single submitter ⚠
p.Ile114Thr Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ile133Met Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ile197Thr Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ile258= Single submitter epilepsy, progressive myoclonic, 1B
p.Ile258Thr Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ile258Val Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ile444Val Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ile69Val Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ile721Met Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ile725Met Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Leu219Pro Single submitter epilepsy, progressive myoclonic, 1B
p.Leu47fs Single submitter epilepsy, progressive myoclonic, 1B
p.Leu497Pro Single submitter ⚠
p.Leu524dup Single submitter epilepsy, progressive myoclonic, 1B
p.Leu52Val Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Leu563Pro Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Leu588Val Single submitter ⚠
p.Leu703Val Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Leu72Val Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Leu730His Single submitter ⚠
p.Leu752Pro Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Leu805Val Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Lys214Thr Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Lys304Glu Single submitter ⚠
p.Lys596Asn Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Lys623Arg Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Lys623Asn Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Lys694Arg Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Lys816Glu Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Lys820Arg Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Lys820Gln Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Met1Ile Single submitter epilepsy, progressive myoclonic, 1B
p.Met232Val Single submitter ⚠
p.Met435Thr Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Met471_Tyr472delinsIleHis Single submitter epilepsy, progressive myoclonic, 1B
p.Met537Val Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Met5Thr Single submitter epilepsy, progressive myoclonic, 1B
p.Met652Ile Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Met652Val Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Met748Val Single submitter ⚠
p.Met9Ile Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Met9Lys Single submitter ⚠
p.Phe633Leu Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Pro147Ser Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Pro153fs Single submitter epilepsy, progressive myoclonic, 1B
p.Pro42Ser Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Pro430Ser Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Pro491Ser Single submitter ⚠
p.Pro651Leu Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Pro697Ser Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Pro706Ala Single submitter ⚠
p.Pro706Ser Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Pro782Ser Single submitter ⚠
p.Pro788Leu Single submitter ⚠
p.Pro801Ser Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Pro808Leu Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Pro808Thr Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ser118Pro Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ser143Phe Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ser154Phe Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ser19Gly Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ser333Gly Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ser426Gly Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ser440Gly Single submitter ⚠
p.Ser469Cys Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ser493Arg Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ser536Leu Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ser591Gly Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ser600Leu Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ser622Pro Single submitter ⚠
p.Ser634Cys Single submitter epilepsy, progressive myoclonic, 1B
p.Ser681= Single submitter
p.Ser766Phe Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Ser768Phe Single submitter ⚠
p.Thr113Ala Single submitter ⚠
p.Thr160Met Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Thr204Ile Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Thr253Lys Single submitter epilepsy, progressive myoclonic, 1B
p.Thr370Ala Single submitter ⚠
p.Thr453Asn Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Thr514Ile Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Thr691Arg Single submitter ⚠
p.Thr807Ile Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Thr815Lys Single submitter ⚠
p.Trp443Arg Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Tyr170Cys Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Tyr230Cys Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Tyr247Cys Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Tyr247His Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Tyr467Cys Single submitter ⚠
p.Tyr561His Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Tyr561Phe Single submitter arthrogryposis multiplex congenita ⚠
p.Tyr704Phe Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Tyr74Asn Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Tyr755His Single submitter ⚠
p.Tyr777Cys Single submitter ⚠
p.Tyr794His Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Val149Ala Single submitter epilepsy, progressive myoclonic, 1B ⚠
p.Val157Ile Single submitter ⚠
p.Val157Phe Single submitter ⚠
p.Val224Ile Single submitter ⚠
p.Val449Ala Single submitter epilepsy, progressive myoclonic, 1B ⚠