Sugi Variant

Sugi Variant/CDKL5

CDKL5 — 1398 ClinVar variants

All ClinVar germline CDKL5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 350 flagged for review →

338 Pathogenic · 31 Pathogenic/Likely pathogenic · 153 Likely pathogenic · 44 Conflicting · 87 Benign · 37 Benign/Likely benign · 326 Likely benign · 382 Uncertain significance

Full CDKL5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 350

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 18

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

Predicted LoF vs a conflicting call 2

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 226

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 226

Predictors split 103

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

All CDKL5 variants

Pathogenic 338

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

  • c.146-1G>A Expert panel CDKL5 disorder
  • p.Ala40Val Expert panel CDKL5 disorder
  • p.Arg178Gln Expert panel CDKL5 disorder
  • p.Arg948Ter Expert panel CDKL5 disorder
  • p.Gln834Ter Expert panel CDKL5 disorder
  • p.Glu416fs Expert panel CDKL5 disorder
  • p.Glu74Ter Expert panel CDKL5 disorder
  • p.Gly20Val Expert panel CDKL5 disorder
  • p.His124fs Expert panel CDKL5 disorder
  • p.Ile72Thr Expert panel CDKL5 disorder
  • p.Leu405fs Expert panel CDKL5 disorder
  • p.Ser438fs Expert panel CDKL5 disorder
  • p.Tyr117Ter Expert panel CDKL5 disorder
  • p.Tyr941fs Expert panel CDKL5 disorder
  • p.Val718Met Expert panel CDKL5 disorder ⚠
  • c.100-2A>G Multiple submitters CDKL5 disorder
  • c.146-1G>T Multiple submitters Angelman syndrome-like
  • c.2046+1G>A Multiple submitters CDKL5 disorder
  • c.2047-1G>A Multiple submitters developmental and epileptic encephalopathy, 2
  • c.2152+1G>A Multiple submitters Inborn genetic diseases
  • c.2276+1G>A Multiple submitters developmental and epileptic encephalopathy, 2
  • c.403+1G>A Multiple submitters CDKL5 disorder
  • c.404-1G>T Multiple submitters Rett syndrome
  • c.404-2A>G Multiple submitters CDKL5 disorder
  • c.463+1G>A Multiple submitters CDKL5 disorder
  • c.463+5G>A Multiple submitters developmental and epileptic encephalopathy, 2
  • c.464-2A>G Multiple submitters Inborn genetic diseases
  • c.744+1G>A Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Ala166fs Multiple submitters CDKL5 disorder
  • p.Ala372fs Multiple submitters CDKL5 disorder
  • p.Ala811fs Multiple submitters CDKL5 disorder
  • p.Arg134Ter Multiple submitters CDKL5 disorder
  • p.Arg178Gly Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Arg178Leu Multiple submitters Angelman syndrome-like
  • p.Arg178Trp Multiple submitters CDKL5 disorder
  • p.Arg550Ter Multiple submitters CDKL5 disorder
  • p.Arg59Ter Multiple submitters CDKL5 disorder
  • p.Arg781fs Multiple submitters CDKL5 disorder
  • p.Asn293fs Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Gln118Ter Multiple submitters CDKL5 disorder
  • p.Gln208Ter Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Gln224Ter Multiple submitters CDKL5 disorder
  • p.Gln256Ter Multiple submitters
  • p.Gln290Ter Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Gln336Ter Multiple submitters CDKL5 disorder
  • p.Gln347Ter Multiple submitters CDKL5 disorder
  • p.Gln385Ter Multiple submitters CDKL5 disorder
  • p.Gln459Ter Multiple submitters CDKL5 disorder
  • p.Gln605Ter Multiple submitters Inborn genetic diseases
  • p.Gln69Ter Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Gln860Ter Multiple submitters CDKL5 disorder
  • p.Gln865Ter Multiple submitters CDKL5 disorder
  • p.Gln866Ter Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Gln891fs Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Glu77fs Multiple submitters CDKL5 disorder
  • p.Gly20Arg Multiple submitters CDKL5 disorder
  • p.His127Arg Multiple submitters CDKL5-related disorder
  • p.His690_Ser691insTer Multiple submitters CDKL5 disorder
  • p.Leu184fs Multiple submitters CDKL5 disorder
  • p.Leu323Ter Multiple submitters Angelman syndrome-like
  • p.Leu58fs Multiple submitters Rett syndrome
  • p.Leu67fs Multiple submitters CDKL5 disorder
  • p.Lys776fs Multiple submitters CDKL5 disorder
  • p.Lys787fs Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Phe238fs Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Pro138Leu Multiple submitters
  • p.Pro231fs Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Pro518fs Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Ser827Ter Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Thr169fs Multiple submitters CDKL5 disorder
  • p.Trp176Cys Multiple submitters CDKL5 disorder
  • p.Tyr171Ter Multiple submitters CDKL5 disorder
  • p.Tyr262Ter Multiple submitters developmental and epileptic encephalopathy, 2
  • c.145+2T>C Single submitter CDKL5 disorder
  • c.1942_1944+2delinsA Single submitter
  • c.1944+2T>G Single submitter
  • c.2152+1G>C Single submitter developmental and epileptic encephalopathy, 2
  • c.2152+1G>T Single submitter developmental and epileptic encephalopathy, 2
  • c.2152+2T>G Single submitter Angelman syndrome-like
  • c.2153-1276_2276+3032del Single submitter developmental and epileptic encephalopathy, 2
  • c.2276+1G>T Single submitter developmental and epileptic encephalopathy, 2
  • c.2277-2A>G Single submitter CDKL5 disorder
  • c.2376+1G>A Single submitter CDKL5 disorder
  • c.2376+1G>C Single submitter CDKL5 disorder
  • c.2376+2T>A Single submitter Angelman syndrome-like
  • c.282+1G>A Single submitter developmental and epileptic encephalopathy, 2
  • c.282+1G>T Single submitter developmental and epileptic encephalopathy, 2
  • c.282+2T>G Single submitter
  • c.282+4del Single submitter
  • c.283-3_290del Single submitter CDKL5 disorder
  • c.404-1G>A Single submitter CDKL5 disorder
  • c.404-6C>G Single submitter developmental and epileptic encephalopathy, 2
  • c.463+1G>T Single submitter developmental and epileptic encephalopathy, 2
  • c.464-1G>A Single submitter CDKL5 disorder
  • c.464-2A>C Single submitter developmental and epileptic encephalopathy, 2
  • c.464-3C>G Single submitter developmental and epileptic encephalopathy, 2
  • c.554+2T>C Single submitter developmental and epileptic encephalopathy, 2
  • c.554+4A>G Single submitter developmental and epileptic encephalopathy, 2
  • c.554+5G>A Single submitter Angelman syndrome-like
  • c.555-2A>G Single submitter
  • c.64+1G>C Single submitter developmental and epileptic encephalopathy, 2
  • c.64+2del Single submitter CDKL5 disorder
  • c.65-1G>A Single submitter
  • c.65-2A>C Single submitter developmental and epileptic encephalopathy, 2
  • c.745-1G>T Single submitter developmental and epileptic encephalopathy, 2
  • c.825+1G>T Single submitter CDKL5 disorder
  • c.826-1G>C Single submitter
  • c.978-1G>A Single submitter developmental and epileptic encephalopathy, 2
  • p.Ala122fs Single submitter CDKL5 disorder
  • p.Ala251fs Single submitter developmental and epileptic encephalopathy
  • p.Ala356fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Ala362fs Single submitter CDKL5 disorder
  • p.Ala40Thr Single submitter
  • p.Ala637fs Single submitter
  • p.Arg175Gly Single submitter developmental and epileptic encephalopathy, 2
  • p.Arg261fs Single submitter Angelman syndrome-like
  • p.Arg285Gly Single submitter developmental and epileptic encephalopathy, 2
  • p.Arg340Ter Single submitter CDKL5 disorder
  • p.Arg444fs Single submitter Angelman syndrome-like
  • p.Arg563fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Arg65Pro Single submitter developmental and epileptic encephalopathy, 2
  • p.Arg701fs Single submitter
  • p.Arg735delinsSerTer Single submitter developmental and epileptic encephalopathy, 2
  • p.Arg735fs Single submitter
  • p.Arg752fs Single submitter
  • p.Arg80fs Single submitter CDKL5 disorder
  • p.Arg822fs Single submitter Angelman syndrome-like
  • p.Arg82fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Arg858fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Arg890fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Arg898fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Asn129fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Asn140Ser Single submitter
  • p.Asn253fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Asn267fs Single submitter CDKL5 disorder
  • p.Asn368fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Asn370fs Single submitter
  • p.Asn400fs Single submitter Angelman syndrome-like
  • p.Asn71fs Single submitter
  • p.Asn764fs Single submitter
  • p.Asn850fs Single submitter
  • p.Asn869fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Asn95fs Single submitter Rett syndrome
  • p.Asp153Gly Single submitter CDKL5 disorder
  • p.Asp193Ala Single submitter Angelman syndrome-like
  • p.Asp193Asn Single submitter
  • p.Asp206fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Asp281fs Single submitter CDKL5 disorder
  • p.Asp618fs Single submitter CDKL5 disorder
  • p.Asp800fs Single submitter Angelman syndrome-like
  • p.Cys152fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Gln1012fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Gln219Ter Single submitter developmental and epileptic encephalopathy, 2
  • p.Gln234Ter Single submitter
  • p.Gln290fs Single submitter CDKL5 disorder
  • p.Gln298fs Single submitter CDKL5 disorder
  • p.Gln300fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Gln336fs Single submitter
  • p.Gln389fs Single submitter Angelman syndrome-like
  • p.Gln389Ter Single submitter Inborn genetic diseases
  • p.Gln441Ter Single submitter Angelman syndrome-like
  • p.Gln442Ter Single submitter
  • p.Gln452Ter Single submitter
  • p.Gln464Ter Single submitter CDKL5 disorder
  • p.Gln475fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Gln507Ter Single submitter developmental and epileptic encephalopathy, 2
  • p.Gln605fs Single submitter
  • p.Gln606Ter Single submitter developmental and epileptic encephalopathy, 2
  • p.Gln633fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Gln643Ter Single submitter developmental and epileptic encephalopathy, 2
  • p.Gln791Ter Single submitter developmental and epileptic encephalopathy, 2
  • p.Gln832Ter Single submitter CDKL5 disorder
  • p.Gln865fs Single submitter
  • p.Gln881Ter Single submitter focal epilepsy
  • p.Gln891Ter Single submitter
  • p.Glu101Ter Single submitter developmental and epileptic encephalopathy, 2
  • p.Glu139Ala Single submitter developmental and epileptic encephalopathy, 2
  • p.Glu170Ter Single submitter developmental and epileptic encephalopathy, 2
  • p.Glu181Ala Single submitter
  • p.Glu203Ter Single submitter CDKL5 disorder
  • p.Glu21Lys Single submitter developmental and epileptic encephalopathy, 2
  • p.Glu233Ter Single submitter
  • p.Glu34Ter Single submitter Angelman syndrome-like
  • p.Glu416Ter Single submitter developmental and epileptic encephalopathy, 2
  • p.Glu449fs Single submitter
  • p.Glu449Ter Single submitter developmental and epileptic encephalopathy, 2
  • p.Glu503Ter Single submitter Angelman syndrome-like
  • p.Glu52fs Single submitter
  • p.Glu52Ter Single submitter developmental and epileptic encephalopathy, 2
  • p.Glu55Ter Single submitter Angelman syndrome-like
  • p.Glu699fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Glu699Ter Single submitter
  • p.Glu70fs Single submitter CDKL5 disorder
  • p.Glu742fs Single submitter CDKL5 disorder
  • p.Glu769Ter Single submitter
  • p.Glu775fs Single submitter
  • p.Glu824fs Single submitter
  • p.Glu824Ter Single submitter developmental and epileptic encephalopathy, 2
  • p.Glu93fs Single submitter CDKL5 disorder
  • p.Glu98Ter Single submitter
  • p.Gly155Ser Single submitter developmental and epileptic encephalopathy, 2
  • p.Gly202Trp Single submitter developmental and epileptic encephalopathy, 2
  • p.Gly207Val Single submitter developmental and epileptic encephalopathy, 2
  • p.Gly25Arg Single submitter
  • p.Gly25Val Single submitter developmental and epileptic encephalopathy, 2
  • p.Gly330fs Single submitter
  • p.Gly369_Asn370insTer Single submitter Inborn genetic diseases
  • p.Gly369fs Single submitter Angelman syndrome-like
  • p.Gly430fs Single submitter Angelman syndrome-like
  • p.Gly456fs Single submitter
  • p.Gly597fs Single submitter Angelman syndrome-like
  • p.Gly632Ter Single submitter CDKL5 disorder
  • p.Gly83fs Single submitter
  • p.His294fs Single submitter developmental and epileptic encephalopathy, 2
  • p.His338fs Single submitter Angelman syndrome-like
  • p.His581fs Single submitter developmental and epileptic encephalopathy, 2
  • p.His676fs Single submitter Angelman syndrome-like
  • p.His702fs Single submitter CDKL5 disorder
  • p.His728fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Ile120fs Single submitter
  • p.Ile143fs Single submitter
  • p.Ile223fs Single submitter Inborn genetic diseases
  • p.Ile631fs Single submitter
  • p.Leu119Arg Single submitter
  • p.Leu119fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Leu142Ter Single submitter CDKL5 disorder
  • p.Leu142Val Single submitter Angelman syndrome-like
  • p.Leu184Pro Single submitter developmental and epileptic encephalopathy, 2
  • p.Leu210fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Leu270fs Single submitter
  • p.Leu277Ser Single submitter Angelman syndrome-like
  • p.Leu302fs Single submitter CDKL5 disorder
  • p.Leu303fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Leu353fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Leu360fs Single submitter CDKL5 disorder
  • p.Leu58_Arg59insAlaArgArgGlyGlySerArgLeuTer Single submitter developmental and epileptic encephalopathy, 2
  • p.Leu629fs Single submitter
  • p.Leu642fs Single submitter CDKL5 disorder
  • p.Leu739fs Single submitter Inborn genetic diseases
  • p.Leu842fs Single submitter
  • p.Leu862fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Leu879fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Lys128fs Single submitter
  • p.Lys150Arg Single submitter ⚠
  • p.Lys150fs Single submitter Angelman syndrome-like
  • p.Lys29Thr Single submitter developmental and epileptic encephalopathy, 2
  • p.Lys312Ter Single submitter developmental and epileptic encephalopathy, 2
  • p.Lys485fs Single submitter Angelman syndrome-like
  • p.Lys496fs Single submitter Angelman syndrome-like
  • p.Lys496Ter Single submitter developmental and epileptic encephalopathy, 2
  • p.Lys619fs Single submitter Angelman syndrome-like
  • p.Lys665fs Single submitter Inborn genetic diseases
  • p.Lys751fs Single submitter Angelman syndrome-like
  • p.Lys786fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Lys84Ter Single submitter
  • p.Lys94Ter Single submitter developmental and epileptic encephalopathy, 2
  • p.Met103fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Met63fs Single submitter CDKL5 disorder
  • p.Phe154fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Phe517fs Single submitter CDKL5 disorder
  • p.Phe675fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Pro138Ala Single submitter Angelman syndrome-like
  • p.Pro242fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Pro250fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Pro282_Tyr286delinsAsn Single submitter developmental and epileptic encephalopathy, 2
  • p.Pro403fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Pro754fs Single submitter Angelman syndrome-like
  • p.Pro794= Single submitter developmental and epileptic encephalopathy, 2
  • p.Pro818fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Pro835fs Single submitter CDKL5 disorder
  • p.Pro895fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Ser232fs Single submitter
  • p.Ser257fs Single submitter
  • p.Ser332fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Ser337fs Single submitter CDKL5 disorder
  • p.Ser365fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Ser394fs Single submitter Angelman syndrome-like
  • p.Ser413Ter Single submitter CDKL5 disorder
  • p.Ser446Ter Single submitter developmental and epileptic encephalopathy, 2
  • p.Ser479fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Ser529fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Ser557Ter Single submitter
  • p.Ser580fs Single submitter CDKL5 disorder
  • p.Ser582fs Single submitter
  • p.Ser586fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Ser593fs Single submitter
  • p.Ser600fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Ser628fs Single submitter Angelman syndrome-like
  • p.Ser673fs Single submitter CDKL5 disorder
  • p.Ser743fs Single submitter Angelman syndrome-like
  • p.Ser744fs Single submitter
  • p.Ser855Ter Single submitter CDKL5 disorder
  • p.Ser870fs Single submitter
  • p.Thr222fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Thr35_His36insTer Single submitter developmental and epileptic encephalopathy, 2
  • p.Thr472fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Thr538fs Single submitter
  • p.Thr562fs Single submitter developmental and epileptic encephalopathy, 2
  • p.Thr599fs Single submitter
  • p.Thr672fs Single submitter developmental and epileptic encephalopathy, 2

Pathogenic/Likely pathogenic 31

  • c.145+1G>A Multiple submitters developmental and epileptic encephalopathy, 2
  • c.404-1G>C Multiple submitters infantile spasms
  • c.464-1G>C Multiple submitters developmental and epileptic encephalopathy, 2
  • c.554+1G>A Multiple submitters CDKL5 disorder
  • c.65dupG Multiple submitters CDKL5 disorder
  • c.99+1G>T Multiple submitters CDKL5 disorder
  • c.99+5G>A Multiple submitters CDKL5 disorder
  • c.-162-2A>G Multiple submitters CDKL5 disorder
  • p.Arg178Pro Multiple submitters CDKL5 disorder
  • p.Arg285Lys Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Arg558fs Multiple submitters CDKL5 disorder
  • p.Arg559Ter Multiple submitters CDKL5 disorder
  • p.Cys152_Asp153delinsTer Multiple submitters CDKL5 disorder
  • p.Cys152Tyr Multiple submitters Angelman syndrome-like
  • p.Gln648Ter Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Gln652Ter Multiple submitters CDKL5 disorder
  • p.Gln805Ter Multiple submitters CDKL5 disorder
  • p.Glu55fs Multiple submitters CDKL5 disorder
  • p.Gly198Asp Multiple submitters Angelman syndrome-like
  • p.Gly213Glu Multiple submitters Angelman syndrome-like
  • p.Leu220fs Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Leu220Pro Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Leu271Pro Multiple submitters CDKL5 disorder
  • p.Lys42Arg Multiple submitters CDKL5 disorder
  • p.Lys680Ter Multiple submitters CDKL5 disorder
  • p.Ser196Leu Multiple submitters CDKL5 disorder
  • p.Ser481_Tyr482insTer Multiple submitters CDKL5 disorder
  • p.Ser782Ter Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Thr792fs Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Trp176Ter Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Val27Ala Multiple submitters CDKL5 disorder

Likely pathogenic 153

Conflicting classifications of pathogenicity 44

Benign 87

Benign/Likely benign 37

  • c.145+17A>G Multiple submitters CDKL5 disorder
  • c.145+5AT[6] Multiple submitters Angelman syndrome-like
  • c.2797+16C>T Multiple submitters developmental and epileptic encephalopathy, 2
  • c.2980+20C>T Multiple submitters Angelman syndrome-like
  • c.2980+21G>C Multiple submitters
  • c.464-9A>G Multiple submitters developmental and epileptic encephalopathy, 2
  • c.99+34A>G Multiple submitters CDKL5 disorder
  • c.-391G>T Multiple submitters CDKL5 disorder
  • c.-440G>T Multiple submitters CDKL5 disorder
  • p.Ala509= Multiple submitters Angelman syndrome-like
  • p.Ala509Val Multiple submitters Inborn genetic diseases
  • p.Ala894Thr Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Arg305= Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Arg444= Multiple submitters History of neurodevelopmental disorder
  • p.Arg444Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg822= Multiple submitters Angelman syndrome-like
  • p.Arg956His Multiple submitters Inborn genetic diseases
  • p.Arg970Gln Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Asn461Ile Multiple submitters Inborn genetic diseases
  • p.Asp797Asn Multiple submitters Angelman syndrome-like
  • p.Gln606= Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Gln891= Multiple submitters CDKL5 disorder
  • p.His317Arg Multiple submitters Angelman syndrome-like
  • p.His467Arg Multiple submitters CDKL5 disorder
  • p.Leu201= Multiple submitters Angelman syndrome-like
  • p.Phe366= Multiple submitters Angelman syndrome-like
  • p.Pro474= Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Pro893Ser Multiple submitters Inborn genetic diseases
  • p.Ser191= Multiple submitters CDKL5 disorder
  • p.Ser426= Multiple submitters CDKL5 disorder
  • p.Ser446= Multiple submitters Inborn genetic diseases
  • p.Ser477= Multiple submitters CDKL5 disorder
  • p.Ser674= Multiple submitters Inborn genetic diseases
  • p.Ser847= Multiple submitters Angelman syndrome-like
  • p.Thr296Ala Multiple submitters Inborn genetic diseases
  • p.Thr803= Multiple submitters Inborn genetic diseases
  • p.Tyr516= Multiple submitters Angelman syndrome-like

Likely benign 326

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

  • c.2046+3A>G Expert panel CDKL5 disorder
  • c.2152+10C>G Expert panel CDKL5 disorder
  • p.Ala1011Thr Expert panel CDKL5 disorder
  • p.Ala953Ser Expert panel CDKL5 disorder
  • p.Arg31= Expert panel CDKL5 disorder
  • p.Arg65Gln Expert panel CDKL5 disorder ⚠
  • p.Arg822His Expert panel CDKL5 disorder
  • p.Arg981Ter Expert panel CDKL5 disorder
  • p.Gln913His Expert panel CDKL5 disorder
  • p.Glu773Gly Expert panel CDKL5 disorder
  • p.Gly994Arg Expert panel CDKL5 disorder
  • p.Leu703Val Expert panel CDKL5 disorder
  • p.Leu978Arg Expert panel CDKL5 disorder
  • p.Lys412Glu Expert panel CDKL5 disorder ⚠
  • p.Pro527Ser Expert panel CDKL5 disorder
  • p.Pro852= Expert panel CDKL5 disorder
  • p.Ser796= Expert panel CDKL5 disorder
  • p.Thr538Ala Expert panel CDKL5 disorder
  • p.Thr562Ala Expert panel CDKL5 disorder
  • p.Thr734Ala Expert panel CDKL5 disorder
  • p.Thr928Met Expert panel CDKL5 disorder
  • c.100-243A>G Multiple submitters
  • c.145+6T>G Multiple submitters Angelman syndrome-like
  • c.2046+16A>G Multiple submitters Angelman syndrome-like
  • c.404-9A>G Multiple submitters Angelman syndrome-like
  • c.64+14T>C Multiple submitters Angelman syndrome-like
  • c.65-13C>T Multiple submitters Angelman syndrome-like
  • c.744+112T>G Multiple submitters
  • p.Ala329= Multiple submitters Inborn genetic diseases
  • p.Ala374= Multiple submitters Angelman syndrome-like
  • p.Arg313= Multiple submitters History of neurodevelopmental disorder
  • p.Asn461Ser Multiple submitters CDKL5 disorder
  • p.Asp357= Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Glu462Asp Multiple submitters Inborn genetic diseases
  • p.Glu656= Multiple submitters Angelman syndrome-like
  • p.His564= Multiple submitters developmental and epileptic encephalopathy, 2
  • p.His687= Multiple submitters Angelman syndrome-like
  • p.His702= Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Leu64= Multiple submitters Inborn genetic diseases
  • p.Leu703= Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Lys111= Multiple submitters CDKL5 disorder
  • p.Met577Thr Multiple submitters Inborn genetic diseases
  • p.Phe154= Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Phe249= Multiple submitters Inborn genetic diseases
  • p.Pro689= Multiple submitters Angelman syndrome-like
  • p.Ser337= Multiple submitters Angelman syndrome-like
  • p.Ser584= Multiple submitters developmental and epileptic encephalopathy, 2
  • p.Thr928= Multiple submitters Angelman syndrome-like
  • p.Tyr594= Multiple submitters Inborn genetic diseases
  • c.100-20C>T Single submitter developmental and epileptic encephalopathy, 2
  • c.145+10T>G Single submitter developmental and epileptic encephalopathy, 2
  • c.145+12T>G Single submitter developmental and epileptic encephalopathy, 2
  • c.145+17_145+42del Single submitter developmental and epileptic encephalopathy, 2
  • c.145+5AT[15] Single submitter developmental and epileptic encephalopathy, 2
  • c.145+5AT[8] Single submitter Angelman syndrome-like
  • c.145+5AT[9] Single submitter developmental and epileptic encephalopathy, 2
  • c.145+8T>G Single submitter Angelman syndrome-like
  • c.146-14T>G Single submitter developmental and epileptic encephalopathy, 2
  • c.146-15T>C Single submitter developmental and epileptic encephalopathy, 2
  • c.146-16A>G Single submitter developmental and epileptic encephalopathy, 2
  • c.146-18_146-16del Single submitter developmental and epileptic encephalopathy, 2
  • c.146-19A>G Single submitter
  • c.146-7A>G Single submitter Angelman syndrome-like
  • c.146-8C>T Single submitter Angelman syndrome-like
  • c.1944+113T>G Single submitter
  • c.1944+15C>G Single submitter developmental and epileptic encephalopathy, 2
  • c.1944+247del Single submitter
  • c.1944+6G>A Single submitter
  • c.1945-4C>G Single submitter
  • c.1945-8A>C Single submitter developmental and epileptic encephalopathy, 2
  • c.2046+10A>G Single submitter developmental and epileptic encephalopathy, 2
  • c.2046+11A>G Single submitter Angelman syndrome-like
  • c.2046+19T>C Single submitter Angelman syndrome-like
  • c.2046+9C>T Single submitter developmental and epileptic encephalopathy, 2
  • c.2047-15T>A Single submitter Angelman syndrome-like
  • c.2047-178G>A Single submitter
  • c.2047-5C>T Single submitter developmental and epileptic encephalopathy, 2
  • c.2152+10C>T Single submitter Angelman syndrome-like
  • c.2152+14C>T Single submitter Angelman syndrome-like
  • c.2152+15G>A Single submitter Angelman syndrome-like
  • c.2152+16G>A Single submitter Angelman syndrome-like
  • c.2152+172C>A Single submitter
  • c.2152+195G>A Single submitter
  • c.2152+48C>T Single submitter CDKL5 disorder
  • c.2152+9A>C Single submitter Angelman syndrome-like
  • c.2152+9A>T Single submitter developmental and epileptic encephalopathy, 2
  • c.2153-10C>A Single submitter developmental and epileptic encephalopathy, 2
  • c.2153-10C>G Single submitter developmental and epileptic encephalopathy, 2
  • c.2153-16C>A Single submitter developmental and epileptic encephalopathy, 2
  • c.2153-17A>C Single submitter Angelman syndrome-like
  • c.2153-20C>A Single submitter developmental and epileptic encephalopathy, 2
  • c.2153-235G>A Single submitter
  • c.2153-42A>G Single submitter
  • c.2153-47_2153-38del Single submitter
  • c.2153-6A>C Single submitter developmental and epileptic encephalopathy, 2
  • c.2276+18T>C Single submitter developmental and epileptic encephalopathy, 2
  • c.2276+9T>G Single submitter
  • c.2277-7C>T Single submitter developmental and epileptic encephalopathy, 2
  • c.2277-8T>C Single submitter Angelman syndrome-like
  • c.2376+11G>T Single submitter developmental and epileptic encephalopathy, 2
  • c.2376+158A>G Single submitter
  • c.2376+18T>A Single submitter developmental and epileptic encephalopathy, 2
  • c.2377-1212A>G Single submitter
  • c.2377-1232G>A Single submitter
  • c.2377-18G>C Single submitter developmental and epileptic encephalopathy, 2
  • c.2377-31T>C Single submitter CDKL5 disorder
  • c.2377-4C>G Single submitter developmental and epileptic encephalopathy, 2
  • c.2496+14G>A Single submitter developmental and epileptic encephalopathy, 2
  • c.2496+16A>G Single submitter developmental and epileptic encephalopathy, 2
  • c.2496+18C>G Single submitter developmental and epileptic encephalopathy, 2
  • c.2496+3G>A Single submitter
  • c.2497-10T>G Single submitter
  • c.2497-6_2497-3del Single submitter Angelman syndrome-like
  • c.2797+14C>G Single submitter
  • c.2797+14C>T Single submitter
  • c.2797+8_2797+9del Single submitter Angelman syndrome-like
  • c.282+15G>A Single submitter developmental and epileptic encephalopathy, 2
  • c.282+16C>A Single submitter Angelman syndrome-like
  • c.282+18A>G Single submitter developmental and epileptic encephalopathy, 2
  • c.283-11T>G Single submitter Angelman syndrome-like
  • c.283-12_283-9del Single submitter developmental and epileptic encephalopathy, 2
  • c.283-15_283-14del Single submitter Angelman syndrome-like
  • c.283-15C>G Single submitter Angelman syndrome-like
  • c.283-15C>T Single submitter Angelman syndrome-like
  • c.283-18A>T Single submitter developmental and epileptic encephalopathy, 2
  • c.283-213T>A Single submitter
  • c.283-25A>G Single submitter Rett syndrome
  • c.2980+179G>A Single submitter
  • c.2980+288T>C Single submitter
  • c.2981-136A>G Single submitter
  • c.2981-22G>A Single submitter
  • c.403+317T>C Single submitter
  • c.403+49_403+53del Single submitter CDKL5 disorder
  • c.404-135dup Single submitter
  • c.404-15dup Single submitter developmental and epileptic encephalopathy, 2
  • c.404-16del Single submitter
  • c.404-16T>A Single submitter Angelman syndrome-like
  • c.404-53T>C Single submitter CDKL5 disorder
  • c.463+16A>G Single submitter Angelman syndrome-like
  • c.463+269_463+273del Single submitter
  • c.464-40_464-37del Single submitter CDKL5 disorder
  • c.554+10C>T Single submitter developmental and epileptic encephalopathy, 2
  • c.554+17A>G Single submitter Angelman syndrome-like
  • c.554+19A>G Single submitter developmental and epileptic encephalopathy, 2
  • c.554+7_554+12del Single submitter developmental and epileptic encephalopathy, 2
  • c.555-17C>T Single submitter Angelman syndrome-like
  • c.555-19C>A Single submitter developmental and epileptic encephalopathy, 2
  • c.555-19C>T Single submitter Angelman syndrome-like
  • c.555-7T>A Single submitter
  • c.555-9A>G Single submitter developmental and epileptic encephalopathy, 2
  • c.64+18C>T Single submitter Angelman syndrome-like
  • c.64+44A>T Single submitter
  • c.65-7A>C Single submitter developmental and epileptic encephalopathy, 2
  • c.745-15G>A Single submitter Angelman syndrome-like
  • c.745-20C>A Single submitter developmental and epileptic encephalopathy, 2
  • c.825+10A>G Single submitter developmental and epileptic encephalopathy, 2
  • c.825+11T>C Single submitter developmental and epileptic encephalopathy, 2
  • c.825+170A>G Single submitter
  • c.825+180G>A Single submitter
  • c.825+7C>T Single submitter developmental and epileptic encephalopathy, 2
  • c.825+9A>G Single submitter developmental and epileptic encephalopathy, 2
  • c.978-14T>C Single submitter Angelman syndrome-like
  • c.978-3T>C Single submitter developmental and epileptic encephalopathy, 2
  • c.978-49_978-41del Single submitter CDKL5 disorder
  • c.99+29T>G Single submitter CDKL5 disorder
  • c.99+9A>C Single submitter developmental and epileptic encephalopathy, 2
  • c.99+9A>T Single submitter developmental and epileptic encephalopathy, 2
  • c.-163+10C>T Single submitter
  • c.-163+136T>C Single submitter
  • c.-163+139_-163+140insTT Single submitter
  • c.-163+13G>A Single submitter
  • c.-163+16773TTTTG[6] Single submitter
  • c.-174G>A Single submitter
  • c.-18A>G Single submitter
  • c.-5T>A Single submitter
  • p.Ala1016= Single submitter
  • p.Ala311= Single submitter developmental and epileptic encephalopathy, 2
  • p.Ala356Pro Single submitter Angelman syndrome-like
  • p.Ala362= Single submitter developmental and epileptic encephalopathy, 2
  • p.Ala372= Single submitter developmental and epileptic encephalopathy, 2
  • p.Ala40= Single submitter developmental and epileptic encephalopathy, 2
  • p.Ala411= Single submitter Angelman syndrome-like
  • p.Ala491Thr Single submitter
  • p.Ala622= Single submitter developmental and epileptic encephalopathy, 2
  • p.Ala636Ser Single submitter developmental and epileptic encephalopathy, 2
  • p.Ala637Gly Single submitter developmental and epileptic encephalopathy, 2
  • p.Ala660= Single submitter developmental and epileptic encephalopathy, 2
  • p.Ala78= Single submitter Angelman syndrome-like
  • p.Arg1010Gly Single submitter
  • p.Arg178= Single submitter developmental and epileptic encephalopathy, 2
  • p.Arg261= Single submitter Angelman syndrome-like
  • p.Arg355= Single submitter Angelman syndrome-like
  • p.Arg439= Single submitter developmental and epileptic encephalopathy, 2
  • p.Arg505= Single submitter Angelman syndrome-like
  • p.Arg550Gln Single submitter Angelman syndrome-like
  • p.Arg607= Single submitter developmental and epileptic encephalopathy, 2
  • p.Arg678= Single submitter developmental and epileptic encephalopathy, 2
  • p.Arg722Cys Single submitter developmental and epileptic encephalopathy, 2
  • p.Arg817= Single submitter developmental and epileptic encephalopathy, 2
  • p.Arg890= Single submitter Angelman syndrome-like
  • p.Asn437= Single submitter developmental and epileptic encephalopathy, 2
  • p.Asn731= Single submitter developmental and epileptic encephalopathy, 2
  • p.Asn748= Single submitter developmental and epileptic encephalopathy, 2
  • p.Asn748Thr Single submitter developmental and epileptic encephalopathy, 2
  • p.Asp135= Single submitter CDKL5 disorder
  • p.Asp206= Single submitter Angelman syndrome-like
  • p.Asp46= Single submitter
  • p.Asp471= Single submitter Angelman syndrome-like
  • p.Asp797His Single submitter Angelman syndrome-like
  • p.Cys199= Single submitter
  • p.Cys948= Single submitter developmental and epileptic encephalopathy, 2
  • p.Gln328= Single submitter developmental and epileptic encephalopathy, 2
  • p.Gln442= Single submitter developmental and epileptic encephalopathy, 2
  • p.Gln459= Single submitter Angelman syndrome-like
  • p.Gln475= Single submitter Angelman syndrome-like
  • p.Gln605= Single submitter Angelman syndrome-like
  • p.Gln679= Single submitter developmental and epileptic encephalopathy, 2
  • p.Gln770His Single submitter developmental and epileptic encephalopathy, 2
  • p.Glu699Lys Single submitter Seizure ⚠
  • p.Glu77= Single submitter developmental and epileptic encephalopathy, 2
  • p.Glu773= Single submitter developmental and epileptic encephalopathy, 2
  • p.Gly17= Single submitter Angelman syndrome-like
  • p.Gly185= Single submitter Angelman syndrome-like
  • p.Gly207= Single submitter developmental and epileptic encephalopathy, 2
  • p.Gly330Ser Single submitter Angelman syndrome-like
  • p.Gly369Glu Single submitter developmental and epileptic encephalopathy, 2 ⚠
  • p.Gly597= Single submitter developmental and epileptic encephalopathy, 2
  • p.Gly7= Single submitter Angelman syndrome-like
  • p.Gly885= Single submitter developmental and epileptic encephalopathy, 2
  • p.His245= Single submitter Angelman syndrome-like
  • p.His564Arg Single submitter developmental and epileptic encephalopathy, 2
  • p.His581= Single submitter
  • p.His609= Single submitter Angelman syndrome-like
  • p.His916fs Single submitter
  • p.His945Arg Single submitter
  • p.Ile346= Single submitter developmental and epileptic encephalopathy, 2
  • p.Ile72= Single submitter CDKL5 disorder
  • p.Leu1007= Single submitter
  • p.Leu160= Single submitter Angelman syndrome-like
  • p.Leu210= Single submitter Angelman syndrome-like
  • p.Leu220= Single submitter developmental and epileptic encephalopathy, 2
  • p.Leu227= Single submitter
  • p.Leu270= Single submitter developmental and epileptic encephalopathy, 2
  • p.Leu303= Single submitter developmental and epileptic encephalopathy, 2
  • p.Leu360= Single submitter Angelman syndrome-like
  • p.Leu367= Single submitter developmental and epileptic encephalopathy, 2
  • p.Leu379Arg Single submitter Angelman syndrome-like
  • p.Leu406del Single submitter Angelman syndrome-like
  • p.Leu492= Single submitter developmental and epileptic encephalopathy, 2
  • p.Leu571= Single submitter developmental and epileptic encephalopathy, 2
  • p.Leu596= Single submitter developmental and epileptic encephalopathy, 2
  • p.Leu829= Single submitter developmental and epileptic encephalopathy, 2
  • p.Leu829Val Single submitter Angelman syndrome-like
  • p.Leu99= Single submitter Angelman syndrome-like
  • p.Lys2= Single submitter Angelman syndrome-like
  • p.Lys414= Single submitter developmental and epileptic encephalopathy, 2
  • p.Lys424= Single submitter Angelman syndrome-like
  • p.Lys463= Single submitter Angelman syndrome-like
  • p.Lys463Glu Single submitter developmental and epileptic encephalopathy, 2 ⚠
  • p.Lys665= Single submitter developmental and epileptic encephalopathy, 2
  • p.Lys680= Single submitter developmental and epileptic encephalopathy, 2
  • p.Lys943= Single submitter
  • p.Met448Val Single submitter
  • p.Phe447Leu Single submitter Angelman syndrome-like ⚠
  • p.Phe756= Single submitter Angelman syndrome-like
  • p.Pro109= Single submitter Angelman syndrome-like
  • p.Pro242Thr Single submitter Angelman syndrome-like
  • p.Pro282= Single submitter
  • p.Pro354= Single submitter developmental and epileptic encephalopathy, 2
  • p.Pro361= Single submitter Inborn genetic diseases
  • p.Pro403= Single submitter Angelman syndrome-like
  • p.Pro429= Single submitter Angelman syndrome-like
  • p.Pro429Leu Single submitter developmental and epileptic encephalopathy, 2
  • p.Pro518= Single submitter developmental and epileptic encephalopathy, 2
  • p.Pro527Leu Single submitter Angelman syndrome-like
  • p.Pro530= Single submitter developmental and epileptic encephalopathy, 2
  • p.Pro532= Single submitter developmental and epileptic encephalopathy, 2
  • p.Pro647= Single submitter
  • p.Pro649= Single submitter Angelman syndrome-like
  • p.Pro697Ala Single submitter developmental and epileptic encephalopathy, 2
  • p.Pro707= Single submitter developmental and epileptic encephalopathy, 2
  • p.Pro723Ser Single submitter Angelman syndrome-like ⚠
  • p.Pro740= Single submitter developmental and epileptic encephalopathy, 2
  • p.Pro740Ala Single submitter developmental and epileptic encephalopathy, 2
  • p.Pro758Ser Single submitter developmental and epileptic encephalopathy, 2
  • p.Pro835= Single submitter developmental and epileptic encephalopathy, 2
  • p.Pro893= Single submitter Angelman syndrome-like
  • p.Pro895= Single submitter developmental and epileptic encephalopathy, 2
  • p.Ser196= Single submitter developmental and epileptic encephalopathy, 2
  • p.Ser205= Single submitter developmental and epileptic encephalopathy, 2
  • p.Ser306= Single submitter Angelman syndrome-like
  • p.Ser321= Single submitter Inborn genetic diseases
  • p.Ser365Thr Single submitter developmental and epileptic encephalopathy, 2
  • p.Ser388= Single submitter Angelman syndrome-like
  • p.Ser481Cys Single submitter Angelman syndrome-like ⚠
  • p.Ser514= Single submitter Angelman syndrome-like
  • p.Ser600= Single submitter developmental and epileptic encephalopathy, 2
  • p.Ser630= Single submitter developmental and epileptic encephalopathy, 2
  • p.Ser663= Single submitter developmental and epileptic encephalopathy, 2
  • p.Ser766Asn Single submitter ⚠

Uncertain significance 382

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