Sugi Variant

Sugi Variant/PRICKLE2

PRICKLE2 — 661 ClinVar variants

All ClinVar germline PRICKLE2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 317 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 21 Conflicting · 28 Benign · 7 Benign/Likely benign · 175 Likely benign · 427 Uncertain significance

Full PRICKLE2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 317

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 6

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 252

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 252

Predictors split 57

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

All PRICKLE2 variants

Pathogenic 1

  • p.Gly127fs Single submitter Progressive myoclonic epilepsy type 5

Likely pathogenic 2

Conflicting classifications of pathogenicity 21

  • c.788-6T>C Single submitter progressive myoclonus epilepsy
  • c.-370G>A Single submitter progressive myoclonus epilepsy
  • p.Arg110= Single submitter Progressive myoclonic epilepsy type 5
  • p.Arg115= Single submitter Progressive myoclonic epilepsy type 5
  • p.Arg72Ter Single submitter ⚠
  • p.Cys198= Single submitter Progressive myoclonic epilepsy type 5
  • p.Gln438His Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly212= Single submitter progressive myoclonus epilepsy
  • p.Gly230= Single submitter progressive myoclonus epilepsy
  • p.Leu172= Single submitter
  • p.Leu654= Single submitter Progressive myoclonic epilepsy type 5
  • p.Leu701= Single submitter progressive myoclonus epilepsy
  • p.Pro350Ser Single submitter progressive myoclonus epilepsy ⚠
  • p.Pro41= Single submitter progressive myoclonus epilepsy
  • p.Pro41Leu Single submitter ⚠
  • p.Pro439= Single submitter progressive myoclonus epilepsy
  • p.Ser731Gly Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Thr530= Single submitter progressive myoclonus epilepsy
  • p.Thr534= Single submitter Progressive myoclonic epilepsy type 5
  • p.Val153Ile Single submitter Myoclonic epilepsy, progressive, X-linked ⚠
  • p.Val605Phe Single submitter Progressive myoclonic epilepsy type 5 ⚠

Benign 28

  • c.144+10T>C Multiple submitters Progressive myoclonic epilepsy type 5
  • c.259-6A>G Multiple submitters progressive myoclonus epilepsy
  • c.-557C>T Multiple submitters progressive myoclonus epilepsy
  • c.-68G>A Multiple submitters progressive myoclonus epilepsy
  • c.*1310C>T Multiple submitters progressive myoclonus epilepsy
  • c.*1589G>A Multiple submitters progressive myoclonus epilepsy
  • c.*1605T>G Multiple submitters progressive myoclonus epilepsy
  • c.*1763G>A Multiple submitters progressive myoclonus epilepsy
  • c.*2447G>A Multiple submitters progressive myoclonus epilepsy
  • c.*2724C>A Multiple submitters progressive myoclonus epilepsy
  • c.*2772A>G Multiple submitters progressive myoclonus epilepsy
  • c.*2797A>T Multiple submitters progressive myoclonus epilepsy
  • c.*2891C>T Multiple submitters progressive myoclonus epilepsy
  • c.*3491A>G Multiple submitters progressive myoclonus epilepsy
  • c.*4238C>T Multiple submitters progressive myoclonus epilepsy
  • c.*4733G>A Multiple submitters progressive myoclonus epilepsy
  • c.*4797G>A Multiple submitters progressive myoclonus epilepsy
  • c.*695A>C Multiple submitters progressive myoclonus epilepsy
  • p.Asn328= Multiple submitters progressive myoclonus epilepsy
  • p.Asp272= Multiple submitters progressive myoclonus epilepsy
  • p.Gln517= Multiple submitters progressive myoclonus epilepsy
  • p.Pro193= Multiple submitters progressive myoclonus epilepsy
  • c.258+8del Single submitter Progressive myoclonic epilepsy type 5
  • c.*1044C>T Single submitter progressive myoclonus epilepsy
  • c.*1277C>G Single submitter progressive myoclonus epilepsy
  • c.*2567A>T Single submitter progressive myoclonus epilepsy
  • c.*3333T>C Single submitter progressive myoclonus epilepsy
  • p.Val2= Single submitter Progressive myoclonic epilepsy type 5

Benign/Likely benign 7

  • c.145-4T>G Multiple submitters Progressive myoclonic epilepsy type 5
  • c.*3489G>A Multiple submitters progressive myoclonus epilepsy
  • p.Arg148= Multiple submitters progressive myoclonus epilepsy
  • p.Glu509= Multiple submitters progressive myoclonus epilepsy
  • p.Gly345= Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Ile465= Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Tyr89= Multiple submitters Progressive myoclonic epilepsy type 5

Likely benign 175

  • c.1661-19C>T Multiple submitters Progressive myoclonic epilepsy type 5
  • c.396+20A>C Multiple submitters Progressive myoclonic epilepsy type 5
  • c.-252G>C Multiple submitters progressive myoclonus epilepsy
  • p.Ala437= Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Arg330= Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Arg670= Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Arg694= Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Arg714= Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Asp368= Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Gln725= Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Glu348= Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Gly475= Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Pro157= Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Pro158= Multiple submitters
  • p.Pro474= Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Pro81= Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Ser324= Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Ser753= Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Ser815= Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Thr279= Multiple submitters Progressive myoclonic epilepsy type 5
  • c.144+12G>T Single submitter Progressive myoclonic epilepsy type 5
  • c.144+19G>A Single submitter Progressive myoclonic epilepsy type 5
  • c.145-15C>T Single submitter Progressive myoclonic epilepsy type 5
  • c.1660+14A>G Single submitter Progressive myoclonic epilepsy type 5
  • c.1660+15C>T Single submitter Progressive myoclonic epilepsy type 5
  • c.1661-11C>G Single submitter Progressive myoclonic epilepsy type 5
  • c.1661-15T>C Single submitter Progressive myoclonic epilepsy type 5
  • c.1661-18C>T Single submitter Progressive myoclonic epilepsy type 5
  • c.258+13A>C Single submitter Progressive myoclonic epilepsy type 5
  • c.258+19C>T Single submitter Progressive myoclonic epilepsy type 5
  • c.259-12G>T Single submitter Progressive myoclonic epilepsy type 5
  • c.259-5T>C Single submitter Progressive myoclonic epilepsy type 5
  • c.396+18G>A Single submitter
  • c.396+19G>A Single submitter Progressive myoclonic epilepsy type 5
  • c.396+19G>T Single submitter Progressive myoclonic epilepsy type 5
  • c.397-7C>T Single submitter Progressive myoclonic epilepsy type 5
  • c.397-8C>A Single submitter
  • c.397-8C>T Single submitter Progressive myoclonic epilepsy type 5
  • c.600+7G>A Single submitter Progressive myoclonic epilepsy type 5
  • c.600+8C>T Single submitter Progressive myoclonic epilepsy type 5
  • c.601-10C>A Single submitter Progressive myoclonic epilepsy type 5
  • c.601-19T>G Single submitter Progressive myoclonic epilepsy type 5
  • c.787+16G>T Single submitter Progressive myoclonic epilepsy type 5
  • c.788-20A>G Single submitter Progressive myoclonic epilepsy type 5
  • c.788-28_788-20del Single submitter Progressive myoclonic epilepsy type 5
  • c.788-6T>G Single submitter Progressive myoclonic epilepsy type 5
  • c.*133G>A Single submitter progressive myoclonus epilepsy
  • c.*2269T>C Single submitter progressive myoclonus epilepsy
  • c.*2633G>A Single submitter progressive myoclonus epilepsy
  • c.*3178G>C Single submitter progressive myoclonus epilepsy
  • c.*3852C>A Single submitter progressive myoclonus epilepsy
  • c.*4057G>A Single submitter progressive myoclonus epilepsy
  • c.*4354C>G Single submitter progressive myoclonus epilepsy
  • p.Ala146= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ala149= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ala367= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ala650= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ala707= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ala770= Single submitter
  • p.Ala770Thr Single submitter
  • p.Arg213= Single submitter Progressive myoclonic epilepsy type 5
  • p.Arg395= Single submitter Progressive myoclonic epilepsy type 5
  • p.Arg425= Single submitter Progressive myoclonic epilepsy type 5
  • p.Arg519= Single submitter Progressive myoclonic epilepsy type 5
  • p.Arg541= Single submitter Progressive myoclonic epilepsy type 5
  • p.Arg720= Single submitter Progressive myoclonic epilepsy type 5
  • p.Arg728= Single submitter Progressive myoclonic epilepsy type 5
  • p.Arg827= Single submitter Progressive myoclonic epilepsy type 5
  • p.Arg88= Single submitter Progressive myoclonic epilepsy type 5
  • p.Asn343= Single submitter
  • p.Asn679= Single submitter Progressive myoclonic epilepsy type 5
  • p.Asp141= Single submitter Progressive myoclonic epilepsy type 5
  • p.Asp205= Single submitter Progressive myoclonic epilepsy type 5
  • p.Asp27= Single submitter Progressive myoclonic epilepsy type 5
  • p.Asp471= Single submitter Progressive myoclonic epilepsy type 5
  • p.Asp632= Single submitter
  • p.Asp646= Single submitter Progressive myoclonic epilepsy type 5
  • p.Asp677= Single submitter Progressive myoclonic epilepsy type 5
  • p.Asp724= Single submitter Progressive myoclonic epilepsy type 5
  • p.Cys133= Single submitter Progressive myoclonic epilepsy type 5
  • p.Cys154= Single submitter
  • p.Cys195= Single submitter Progressive myoclonic epilepsy type 5
  • p.Cys244= Single submitter Progressive myoclonic epilepsy type 5
  • p.Cys748= Single submitter Progressive myoclonic epilepsy type 5
  • p.Gln232= Single submitter Progressive myoclonic epilepsy type 5
  • p.Gln260= Single submitter Progressive myoclonic epilepsy type 5
  • p.Gln75= Single submitter Progressive myoclonic epilepsy type 5
  • p.Gln758= Single submitter Progressive myoclonic epilepsy type 5
  • p.Glu10= Single submitter Progressive myoclonic epilepsy type 5
  • p.Glu211= Single submitter Progressive myoclonic epilepsy type 5
  • p.Glu238= Single submitter Progressive myoclonic epilepsy type 5
  • p.Glu253= Single submitter Progressive myoclonic epilepsy type 5
  • p.Glu47= Single submitter Progressive myoclonic epilepsy type 5
  • p.Glu504= Single submitter Progressive myoclonic epilepsy type 5
  • p.Glu531= Single submitter Progressive myoclonic epilepsy type 5
  • p.Glu96= Single submitter Progressive myoclonic epilepsy type 5
  • p.Gly302= Single submitter Progressive myoclonic epilepsy type 5
  • p.Gly434= Single submitter Progressive myoclonic epilepsy type 5
  • p.Gly648= Single submitter Progressive myoclonic epilepsy type 5
  • p.Gly659= Single submitter Progressive myoclonic epilepsy type 5
  • p.His151= Single submitter Progressive myoclonic epilepsy type 5
  • p.His187= Single submitter Progressive myoclonic epilepsy type 5
  • p.His831= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ile142= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ile181= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ile264= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ile842= Single submitter Progressive myoclonic epilepsy type 5
  • p.Leu168= Single submitter Progressive myoclonic epilepsy type 5
  • p.Leu250= Single submitter Progressive myoclonic epilepsy type 5
  • p.Leu298= Single submitter Progressive myoclonic epilepsy type 5
  • p.Leu372= Single submitter Progressive myoclonic epilepsy type 5
  • p.Leu374= Single submitter Progressive myoclonic epilepsy type 5
  • p.Leu381= Single submitter Progressive myoclonic epilepsy type 5
  • p.Leu418= Single submitter Progressive myoclonic epilepsy type 5
  • p.Leu527= Single submitter Progressive myoclonic epilepsy type 5
  • p.Leu567= Single submitter Progressive myoclonic epilepsy type 5
  • p.Leu76= Single submitter
  • p.Lys290= Single submitter
  • p.Lys444= Single submitter Progressive myoclonic epilepsy type 5
  • p.Lys528= Single submitter Progressive myoclonic epilepsy type 5
  • p.Lys653= Single submitter Progressive myoclonic epilepsy type 5
  • p.Lys74= Single submitter Progressive myoclonic epilepsy type 5
  • p.Lys837= Single submitter
  • p.Lys839= Single submitter Progressive myoclonic epilepsy type 5
  • p.Met441Ile Single submitter Progressive myoclonic epilepsy type 5
  • p.Phe220= Single submitter Progressive myoclonic epilepsy type 5
  • p.Phe247= Single submitter Progressive myoclonic epilepsy type 5
  • p.Phe761= Single submitter Progressive myoclonic epilepsy type 5
  • p.Pro120= Single submitter Progressive myoclonic epilepsy type 5
  • p.Pro122= Single submitter Progressive myoclonic epilepsy type 5
  • p.Pro299= Single submitter Progressive myoclonic epilepsy type 5
  • p.Pro386= Single submitter Progressive myoclonic epilepsy type 5
  • p.Pro42= Single submitter Progressive myoclonic epilepsy type 5
  • p.Pro430= Single submitter Progressive myoclonic epilepsy type 5
  • p.Pro6= Single submitter Progressive myoclonic epilepsy type 5
  • p.Pro715= Single submitter Progressive myoclonic epilepsy type 5
  • p.Pro819= Single submitter Progressive myoclonic epilepsy type 5
  • p.Pro82= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ser105= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ser24= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ser26= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ser356= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ser366= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ser453= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ser454= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ser492= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ser543= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ser550= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ser579= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ser595= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ser601= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ser695= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ser709= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ser740= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ser781= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ser784= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ser814= Single submitter Progressive myoclonic epilepsy type 5
  • p.Ser844= Single submitter Progressive myoclonic epilepsy type 5
  • p.Thr124= Single submitter Progressive myoclonic epilepsy type 5
  • p.Thr163= Single submitter Progressive myoclonic epilepsy type 5
  • p.Thr270= Single submitter Progressive myoclonic epilepsy type 5
  • p.Thr281= Single submitter Progressive myoclonic epilepsy type 5
  • p.Thr494= Single submitter Progressive myoclonic epilepsy type 5
  • p.Thr515= Single submitter Progressive myoclonic epilepsy type 5
  • p.Thr520= Single submitter Progressive myoclonic epilepsy type 5
  • p.Tyr254= Single submitter Progressive myoclonic epilepsy type 5
  • p.Tyr401= Single submitter Progressive myoclonic epilepsy type 5
  • p.Tyr483= Single submitter Progressive myoclonic epilepsy type 5
  • p.Tyr723= Single submitter Progressive myoclonic epilepsy type 5
  • p.Tyr745= Single submitter Progressive myoclonic epilepsy type 5
  • p.Val123= Single submitter Progressive myoclonic epilepsy type 5
  • p.Val144= Single submitter Progressive myoclonic epilepsy type 5
  • p.Val161= Single submitter Progressive myoclonic epilepsy type 5
  • p.Val164= Single submitter Progressive myoclonic epilepsy type 5
  • p.Val40= No assertion criteria PRICKLE2-related disorder

Uncertain significance 427

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

  • c.*1991C>T Multiple submitters progressive myoclonus epilepsy
  • c.*4330A>T Multiple submitters progressive myoclonus epilepsy
  • p.Ala143Thr Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala146Val Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala149Ser Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Ala309Gly Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala33Ser Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala548Thr Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala650Val Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala698Thr Multiple submitters progressive myoclonus epilepsy ⚠
  • p.Ala707Thr Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg110Cys Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg110His Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg194His Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg213Gln Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Arg336His Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg364Gln Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg364Trp Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg390Gln Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg397Gln Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg469Gln Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg521Cys Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg521His Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg670Pro Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg680Pro Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg741Gln Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg88Gln Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Asn138Ser Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Asn317Ser Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Asn328Ser Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Asn626His Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Asn759His Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Asp646Gly Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Cys90Gly Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Gln132His Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Gln564Arg Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Gln729His Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Glu248Lys Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Glu349Asp Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Glu440Lys Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Glu603Asp Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly134Arg Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Gly152Ser Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly294Arg Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly511Ala Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly512Asp Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly560Ala Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly746Val Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly762Arg Multiple submitters ⚠
  • p.His445Pro Multiple submitters progressive myoclonus epilepsy ⚠
  • p.His636Leu Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.His738Arg Multiple submitters progressive myoclonus epilepsy ⚠
  • p.His811Gln Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Leu352Arg Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Leu547Met Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Leu77Val Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Lys820Arg Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Met378Ile Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Met407Thr Multiple submitters ⚠
  • p.Met441Lys Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Met457Ile Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Met533Val Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Met617Ile Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Met665Thr Multiple submitters Progressive myoclonic epilepsy type 5
  • p.Met736Arg Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Pro501Leu Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Pro749Leu Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Ser321Ala Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Ser635Pro Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Ser740Phe Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Ser776Cys Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Ser806Arg Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Thr534Met Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Tyr403Phe Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Tyr63Phe Multiple submitters Progressive myoclonic epilepsy type 5 ⚠
  • p.Val164Phe Multiple submitters progressive myoclonus epilepsy ⚠
  • c.144+3A>G Single submitter Progressive myoclonic epilepsy type 5
  • c.144+6A>G Single submitter Progressive myoclonic epilepsy type 5
  • c.145-98C>G Single submitter PRICKLE2-related neurodevelopmental disorder
  • c.1660+20422G>A Single submitter PRICKLE2-associated epilepsy syndrome
  • c.258+5G>A Single submitter Progressive myoclonic epilepsy type 5
  • c.396+5G>A Single submitter Progressive myoclonic epilepsy type 5
  • c.-122G>T Single submitter progressive myoclonus epilepsy
  • c.-13C>G Single submitter progressive myoclonus epilepsy
  • c.-146G>A Single submitter progressive myoclonus epilepsy
  • c.-219A>G Single submitter progressive myoclonus epilepsy
  • c.-258C>T Single submitter progressive myoclonus epilepsy
  • c.-271A>G Single submitter progressive myoclonus epilepsy
  • c.-287A>G Single submitter progressive myoclonus epilepsy
  • c.-320A>C Single submitter progressive myoclonus epilepsy
  • c.-363G>A Single submitter progressive myoclonus epilepsy
  • c.-371C>T Single submitter progressive myoclonus epilepsy
  • c.-447C>T Single submitter progressive myoclonus epilepsy
  • c.-482A>G Single submitter progressive myoclonus epilepsy
  • c.-89G>C Single submitter progressive myoclonus epilepsy
  • c.*1114C>T Single submitter progressive myoclonus epilepsy
  • c.*1157G>C Single submitter progressive myoclonus epilepsy
  • c.*1274C>T Single submitter progressive myoclonus epilepsy
  • c.*1292A>G Single submitter progressive myoclonus epilepsy
  • c.*146C>T Single submitter progressive myoclonus epilepsy
  • c.*1476A>G Single submitter progressive myoclonus epilepsy
  • c.*1495T>C Single submitter progressive myoclonus epilepsy
  • c.*1508A>G Single submitter progressive myoclonus epilepsy
  • c.*1560C>T Single submitter progressive myoclonus epilepsy
  • c.*1568C>T Single submitter progressive myoclonus epilepsy
  • c.*1621A>G Single submitter progressive myoclonus epilepsy
  • c.*1633G>A Single submitter progressive myoclonus epilepsy
  • c.*1647T>A Single submitter progressive myoclonus epilepsy
  • c.*1682C>T Single submitter progressive myoclonus epilepsy
  • c.*1868G>C Single submitter progressive myoclonus epilepsy
  • c.*1964C>T Single submitter progressive myoclonus epilepsy
  • c.*1982A>G Single submitter progressive myoclonus epilepsy
  • c.*2089C>T Single submitter progressive myoclonus epilepsy
  • c.*2102G>A Single submitter progressive myoclonus epilepsy
  • c.*2207C>T Single submitter progressive myoclonus epilepsy
  • c.*2288C>T Single submitter progressive myoclonus epilepsy
  • c.*2290T>C Single submitter progressive myoclonus epilepsy
  • c.*2391C>T Single submitter progressive myoclonus epilepsy
  • c.*2475G>A Single submitter progressive myoclonus epilepsy
  • c.*2666G>T Single submitter progressive myoclonus epilepsy
  • c.*2782C>G Single submitter progressive myoclonus epilepsy
  • c.*2856C>G Single submitter progressive myoclonus epilepsy
  • c.*2909T>A Single submitter progressive myoclonus epilepsy
  • c.*3065C>A Single submitter progressive myoclonus epilepsy
  • c.*3116C>T Single submitter progressive myoclonus epilepsy
  • c.*3325G>A Single submitter progressive myoclonus epilepsy
  • c.*3343G>A Single submitter progressive myoclonus epilepsy
  • c.*3358T>A Single submitter progressive myoclonus epilepsy
  • c.*3496G>A Single submitter progressive myoclonus epilepsy
  • c.*3501C>G Single submitter progressive myoclonus epilepsy
  • c.*3504C>T Single submitter progressive myoclonus epilepsy
  • c.*3540C>T Single submitter progressive myoclonus epilepsy
  • c.*3632T>C Single submitter progressive myoclonus epilepsy
  • c.*3672C>G Single submitter progressive myoclonus epilepsy
  • c.*3755A>G Single submitter progressive myoclonus epilepsy
  • c.*3755A>T Single submitter progressive myoclonus epilepsy
  • c.*3830T>C Single submitter progressive myoclonus epilepsy
  • c.*3862C>A Single submitter progressive myoclonus epilepsy
  • c.*3864T>C Single submitter progressive myoclonus epilepsy
  • c.*4071A>G Single submitter progressive myoclonus epilepsy
  • c.*4109C>G Single submitter progressive myoclonus epilepsy
  • c.*4182T>C Single submitter progressive myoclonus epilepsy
  • c.*4196T>G Single submitter progressive myoclonus epilepsy
  • c.*4257T>C Single submitter progressive myoclonus epilepsy
  • c.*4455A>G Single submitter progressive myoclonus epilepsy
  • c.*4472G>T Single submitter progressive myoclonus epilepsy
  • c.*4531T>C Single submitter progressive myoclonus epilepsy
  • c.*4595T>A Single submitter progressive myoclonus epilepsy
  • c.*469G>T Single submitter progressive myoclonus epilepsy
  • c.*4769A>G Single submitter progressive myoclonus epilepsy
  • c.*4787T>C Single submitter progressive myoclonus epilepsy
  • c.*4877C>T Single submitter progressive myoclonus epilepsy
  • c.*4994C>T Single submitter progressive myoclonus epilepsy
  • c.*5092T>C Single submitter progressive myoclonus epilepsy
  • c.*560T>A Single submitter progressive myoclonus epilepsy
  • c.*582A>T Single submitter progressive myoclonus epilepsy
  • c.*65G>A Single submitter progressive myoclonus epilepsy
  • c.*690G>A Single submitter progressive myoclonus epilepsy
  • c.*943G>T Single submitter progressive myoclonus epilepsy
  • c.*995C>A Single submitter progressive myoclonus epilepsy
  • p.Ala149Thr Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala196Thr Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala197Thr Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala325Thr Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala329Pro Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala329Ser Single submitter ⚠
  • p.Ala331Pro Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala331Thr Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala33Gly Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala33Val Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala38Thr Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala437Val Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala456Val Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala548Asp Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala561Thr Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala602Ser Single submitter ⚠
  • p.Ala602Thr Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala611Asp Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala650Glu Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Ala756Thr Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg115Cys Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg115His Single submitter ⚠
  • p.Arg119Thr Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg148Cys Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg213Ter Single submitter PRICKLE2-associated neurodevelopmental disorder
  • p.Arg233Pro Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg295Gln Single submitter Progressive myoclonic epilepsy type 5
  • p.Arg295Trp Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg308Gln Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg335Gln Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg336Cys Single submitter Progressive myoclonic epilepsy type 5
  • p.Arg336Leu Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg364Pro Single submitter Progressive myoclonic epilepsy type 5
  • p.Arg395Lys Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg397Trp Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg451Lys Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg519Gln Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg541Gln Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg541Trp Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg563Cys Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg563His Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg569= Single submitter
  • p.Arg569Gln Single submitter myoclonic epilepsy ⚠
  • p.Arg600Trp Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg606His Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg638Ser Single submitter Progressive myoclonic epilepsy type 5
  • p.Arg668His Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg670Gln Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg670Trp Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg688Thr Single submitter ⚠
  • p.Arg689Cys Single submitter
  • p.Arg692His Single submitter Progressive myoclonic epilepsy type 5
  • p.Arg694Ser Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg705Cys Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg705His Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg705Pro Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg710Leu Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg728Cys Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg728His Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg728Leu Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg72Gln Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg730Trp Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg741Leu Single submitter ⚠
  • p.Arg764Cys Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg800His Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Arg802= Single submitter Progressive myoclonic epilepsy type 5
  • p.Asn138Ile Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Asn166Lys Single submitter ⚠
  • p.Asn166Ser Single submitter ⚠
  • p.Asn353Lys Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Asn551Thr Single submitter ⚠
  • p.Asn620Tyr Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Asn65Ser Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Asn697Lys Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Asn786His Single submitter ⚠
  • p.Asn786Lys Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Asn786Ser Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Asn91His Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Asp141Glu Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Asp265Asn Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Asp368Asn Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Asp370Glu Single submitter ⚠
  • p.Asp574Glu Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Asp646His Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Asp677Asn Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Asp677Gly Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Asp696Glu Single submitter Progressive myoclonic epilepsy type 5
  • p.Asp722Asn Single submitter Progressive myoclonic epilepsy type 5
  • p.Cys154Phe Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Cys190Tyr Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Cys221Arg Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Cys225Tyr Single submitter ⚠
  • p.Cys55Arg Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Cys55Ser Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gln136His Single submitter Progressive myoclonic epilepsy type 5
  • p.Gln177= Single submitter progressive myoclonus epilepsy
  • p.Gln177His Single submitter ⚠
  • p.Gln21His Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gln303Glu Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gln421His Single submitter progressive myoclonus epilepsy ⚠
  • p.Gln613Lys Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gln725Arg Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gln725Lys Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gln758Pro Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gln75Ter Single submitter
  • p.Gln829Arg Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Glu100Lys Single submitter ⚠
  • p.Glu100Val Single submitter ⚠
  • p.Glu131Lys Single submitter Progressive myoclonic epilepsy type 5
  • p.Glu200Asp Single submitter autosomal dominant non-syndromic intellectual disability ⚠
  • p.Glu224Lys Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Glu253Val Single submitter ⚠
  • p.Glu504Asp Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Glu509_Glu510del Single submitter
  • p.Glu510Lys Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Glu585Asp Single submitter ⚠
  • p.Glu704Lys Single submitter ⚠
  • p.Glu771_Tyr772del Single submitter Progressive myoclonic epilepsy type 5
  • p.Gly114Ser Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly116Arg Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly127Arg Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly127Glu Single submitter ⚠
  • p.Gly212Glu Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly239Arg Single submitter ⚠
  • p.Gly345Ser Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly436Val Single submitter ⚠
  • p.Gly43Asp Single submitter ⚠
  • p.Gly443Asp Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly443Cys Single submitter ⚠
  • p.Gly459Val Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly475Arg Single submitter ⚠
  • p.Gly511Glu Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly512Cys Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly542Val Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly560Asp Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly560del Single submitter Progressive myoclonic epilepsy type 5
  • p.Gly619Arg Single submitter ⚠
  • p.Gly648Arg Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly648Val Single submitter Progressive myoclonic epilepsy type 5 ⚠
  • p.Gly651Val Single submitter Progressive myoclonic epilepsy type 5 ⚠