Sugi Variant

Sugi Variant/PCDH19

PCDH19 — 1353 ClinVar variants

All ClinVar germline PCDH19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 574 flagged for review →

261 Pathogenic · 28 Pathogenic/Likely pathogenic · 94 Likely pathogenic · 72 Conflicting · 13 Benign · 27 Benign/Likely benign · 283 Likely benign · 575 Uncertain significance

Full PCDH19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 574

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 2

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

Predictors agree, ClinVar conflicts 42

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

Predictors lean, ClinVar uncertain 431

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 431

Predictors split 99

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

All PCDH19 variants

Pathogenic 261

  • c.2147+1G>A Multiple submitters
  • c.2675+2T>C Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Arg207Ter Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Arg395Ter Multiple submitters Inborn genetic diseases
  • p.Arg602Ter Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Arg886Ter Multiple submitters PCDH19-related disorder
  • p.Asn340Ser Multiple submitters Inborn genetic diseases
  • p.Asn559fs Multiple submitters epilepsy
  • p.Asn875fs Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Asp124His Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Asp155His Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Asp45fs Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Gln272Ter Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Gln33Ter Multiple submitters Neurodevelopmental delay
  • p.Gln57Ter Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Gln619Ter Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Glu267Ter Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Glu287Ter Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Glu354fs Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Leu433Pro Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Pro236Ser Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Pro323fs Multiple submitters
  • p.Pro344Arg Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Pro364fs Multiple submitters Seizure
  • p.Pro561Leu Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Pro561Ser Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Ser158Ter Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Ser378Ter Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Ser67Ter Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Thr269fs Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Thr422fs Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Tyr166Ter Multiple submitters PCDH19-related disorder
  • p.Tyr306Ter Multiple submitters Inborn genetic diseases
  • p.Tyr366fs Multiple submitters PCDH19-related disorder
  • p.Tyr366Ter Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Val332fs Multiple submitters developmental and epileptic encephalopathy, 9
  • c.2147+1G>T Single submitter developmental and epileptic encephalopathy, 9
  • c.2147+2T>C Single submitter
  • c.2617-1G>A Single submitter developmental and epileptic encephalopathy, 9
  • c.2675+1G>A Single submitter Inborn genetic diseases
  • c.2675+1G>C Single submitter developmental and epileptic encephalopathy, 9
  • c.2675+2dup Single submitter Complex febrile seizure
  • c.2676-6A>G Single submitter developmental and epileptic encephalopathy, 9
  • c.2848+1G>A Single submitter developmental and epileptic encephalopathy, 9
  • c.2849-2A>G Single submitter
  • p.Ala1016fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Ala547fs Single submitter
  • p.Ala654fs Single submitter
  • p.Arg207fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Arg410fs Single submitter
  • p.Arg47Ter Single submitter Seizure
  • p.Arg519Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Arg602fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Arg705Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn125fs Single submitter Inborn genetic diseases
  • p.Asn171fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn232Lys Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn234Thr Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn324fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn340Tyr Single submitter Inborn genetic diseases
  • p.Asn391fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn447Asp Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn522fs Single submitter
  • p.Asn557fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn570Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn881fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp1001fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp121Ala Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp124Gly Single submitter
  • p.Asp197Gly Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp212Glu Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp230Asn Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp230fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp264Gly Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp341Gly Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp375Tyr Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp377Asn Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp377His Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp377Val Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp481Asn Single submitter
  • p.Asp481fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp54fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp73fs Single submitter
  • p.Asp968Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Cys715fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln164Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln18fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln18Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln272fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln317Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln33fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln385fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln385Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln397Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln418Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln434Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln459_Val460insCysTer Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln459fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln459Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln463Ter Single submitter Seizure
  • p.Gln914Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln922Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu135Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu140Lys Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu167Ter Single submitter
  • p.Glu172fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu172Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu189fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu193Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu199Ter Single submitter
  • p.Glu249fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu249Gly Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu287fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu313Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu31Lys Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu31Ter Single submitter
  • p.Glu357Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu398Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu414Lys Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu414Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu574fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu599fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu616_Ile617insTer Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu623Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu632Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu670fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu874fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu874Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu900fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly159fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly175fs Single submitter
  • p.Gly182fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly220fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly271fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly296fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly322Arg Single submitter
  • p.Gly379fs Single submitter
  • p.Gly382fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly409Ter Single submitter PCDH19-related disorder
  • p.Gly483fs Single submitter
  • p.Gly513fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly598fs Single submitter Seizure
  • p.Gly631fs Single submitter developmental and epileptic encephalopathy, 9
  • p.His1025fs Single submitter Seizure
  • p.His329fs Single submitter developmental and epileptic encephalopathy, 9
  • p.His450fs Single submitter developmental and epileptic encephalopathy, 9
  • p.His452fs Single submitter developmental and epileptic encephalopathy, 9
  • p.His70fs Single submitter
  • p.His888fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Ile101fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Ile115fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Ile178fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Ile326fs Single submitter
  • p.Ile368fs Single submitter
  • p.Ile508fs Single submitter
  • p.Leu1069fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu25Pro Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu380fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu406fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu433Met Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu473fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu652fs Single submitter
  • p.Leu662fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu81Arg Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu993fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Lys120fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Lys179Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Lys194fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Lys227Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Lys319Ter Single submitter
  • p.Lys437fs Single submitter
  • p.Lys527fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Lys635fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Lys708Ter Single submitter
  • p.Lys84fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Lys86Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Lys98fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Met1Ile Single submitter developmental and epileptic encephalopathy, 9
  • p.Met500fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Phe129fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Phe206fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Phe238fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Phe394Cys Single submitter developmental and epileptic encephalopathy, 9
  • p.Phe51fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro127fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro149Ser Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro216fs Single submitter
  • p.Pro323Thr Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Pro494fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro501fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro566Ser Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser158fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser160fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser195fs Single submitter Inborn genetic diseases
  • p.Ser225fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser251Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser263fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser276del Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser276fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser295fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser325fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser361fs Single submitter Seizure
  • p.Ser374fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser374Pro Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser3Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser435fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser474fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser476fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser487fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser512Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser542fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser542Ter Single submitter
  • p.Ser653fs Single submitter
  • p.Thr1066fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Thr165_Tyr166insTer Single submitter developmental and epileptic encephalopathy, 9
  • p.Thr165Pro Single submitter developmental and epileptic encephalopathy, 9
  • p.Thr169fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Thr17fs Single submitter
  • p.Thr572fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr1083fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr154Ter Single submitter Seizure
  • p.Tyr166Asp Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr243Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr275Ter Single submitter
  • p.Tyr278fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr27Ter Single submitter
  • p.Tyr280Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr399Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr419fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr458fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr458Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr471fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr505fs Single submitter PCDH19-related disorder
  • p.Tyr516Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr585fs Single submitter
  • p.Tyr585Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr595Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr876_Ser877insTer Single submitter developmental and epileptic encephalopathy, 9
  • p.Val257fs Single submitter Inborn genetic diseases
  • p.Val274fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Val281fs Single submitter
  • p.Val300fs Single submitter Seizure
  • p.Val334fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Val336fs Single submitter Inborn genetic diseases
  • p.Val373_Ser374insTer Single submitter developmental and epileptic encephalopathy, 9
  • p.Val430fs Single submitter
  • p.Val502fs Single submitter
  • p.Val549fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Val562fs Single submitter
  • p.Val589fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Val658fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Val82fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn347fs No assertion criteria developmental and epileptic encephalopathy, 9
  • p.Gln385Glu No assertion criteria developmental and epileptic encephalopathy, 9 ⚠
  • p.Gln85Ter No assertion criteria developmental and epileptic encephalopathy, 9
  • p.Glu48Ter No assertion criteria developmental and epileptic encephalopathy, 9
  • p.Ile691fs No assertion criteria
  • p.Leu677fs No assertion criteria developmental and epileptic encephalopathy, 9
  • p.Ser202fs No assertion criteria developmental and epileptic encephalopathy, 9
  • p.Ser671Ter No assertion criteria developmental and epileptic encephalopathy, 9
  • p.Val441Glu No assertion criteria developmental and epileptic encephalopathy, 9

Pathogenic/Likely pathogenic 28

  • c.2675+1G>T Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Arg198Leu Multiple submitters Seizure
  • p.Arg372Trp Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Asn123Lys Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Asn125Ser Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Asn232Ser Multiple submitters PCDH19-related disorder
  • p.Asn270Lys Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Asn557Lys Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Asp266Glu Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Asp448Asn Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Asp596Gly Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Glu137Ter Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Glu189Ter Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Glu398_Tyr399insTer Multiple submitters PCDH19-related disorder
  • p.Glu910Ter Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Gly690fs Multiple submitters PCDH19-related disorder
  • p.Pro127Ser Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Pro236Arg Multiple submitters PCDH19-related disorder
  • p.Pro236Leu Multiple submitters Inborn genetic diseases
  • p.Pro344Leu Multiple submitters PCDH19-related disorder
  • p.Pro561Ala Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Pro561fs Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Thr404Ile Multiple submitters PCDH19-related disorder ⚠
  • p.Tyr576Ter Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Tyr605Ter Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Tyr638Ter Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Tyr713Ter Multiple submitters PCDH19-related disorder
  • p.Tyr882Ter Multiple submitters developmental and epileptic encephalopathy, 9

Likely pathogenic 94

  • p.Asn234Ser Multiple submitters PCDH19-related disorder
  • p.Asn340Thr Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Asp121Asn Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp233Tyr Multiple submitters
  • p.Asp264His Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Glu360Lys Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Glu414Gly Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Pro344Gln Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Ser1063fs Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Thr146Arg Multiple submitters developmental and epileptic encephalopathy, 9
  • c.(2147+1_2148-1 Single submitter developmental and epileptic encephalopathy, 9
  • c.2676-1_2683del Single submitter
  • p.Ala142Pro Single submitter
  • p.Ala188fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Ala43Val Single submitter ⚠
  • p.Ala565Pro Single submitter ⚠
  • p.Arg198Gly Single submitter developmental and epileptic encephalopathy, 9
  • p.Arg198Pro Single submitter Inborn genetic diseases
  • p.Arg259fs Single submitter PCDH19-related disorder
  • p.Arg519fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn123Ser Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn232Ile Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn352Ter Single submitter PCDH19-related disorder
  • p.Asp121His Single submitter
  • p.Asp124Ala Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp124Tyr Single submitter
  • p.Asp157Ala Single submitter
  • p.Asp157His Single submitter PCDH19-related disorder
  • p.Asp212His Single submitter
  • p.Asp264Asn Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp320Val Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp375Val Single submitter Bilateral tonic-clonic seizure
  • p.Asp481Gly Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp596Tyr Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp646Glu Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp90Gly Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp90His Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln290fs Single submitter PCDH19-related disorder
  • p.Glu140Gly Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu199Gln Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu249Asp Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu249Gln Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu308Ter Single submitter Epileptic encephalopathy
  • p.Glu31Val Single submitter
  • p.Glu32Val Single submitter PCDH19-related epilespy
  • p.Glu360Gly Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu360Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu574Ter Single submitter
  • p.Glu918fs Single submitter PCDH19-related disorder
  • p.Gly271_Tyr275del Single submitter
  • p.Gly296Val Single submitter developmental and epileptic encephalopathy, 9
  • p.His294fs Single submitter
  • p.His310fs Single submitter
  • p.Ile87_Pro97del Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu224Pro Single submitter
  • p.Leu22fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu640Pro Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu92fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Met106Lys Single submitter developmental and epileptic encephalopathy, 9
  • p.Phe289fs Single submitter
  • p.Pro149Ala Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro323Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Pro344Ala Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro344Ser Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro393Leu Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro566Gln Single submitter Inborn genetic diseases
  • p.Pro664fs Single submitter PCDH19-related disorder
  • p.Ser109Ter Single submitter PCDH19-related disorder
  • p.Ser276Pro Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser28Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser401fs Single submitter PCDH19-related disorder
  • p.Ser403fs Single submitter developmental and epileptic encephalopathy, 9
  • p.Thr146Met Single submitter developmental and epileptic encephalopathy, 9
  • p.Thr221fs Single submitter PCDH19-related disorder
  • p.Thr588Pro Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr204Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr458His Single submitter
  • p.Tyr490Ser Single submitter developmental and epileptic encephalopathy, 9
  • p.Val105fs Single submitter
  • p.Val163Gly Single submitter PCDH19-related disorder
  • p.Val351fs Single submitter
  • p.Val384Gly Single submitter developmental and epileptic encephalopathy
  • p.Val493fs Single submitter
  • p.Val642Gly Single submitter developmental and epileptic encephalopathy, 9
  • p.Val64Glu Single submitter Seizure
  • p.Val8fs Single submitter
  • p.Ala654Pro No assertion criteria developmental and epileptic encephalopathy, 9
  • p.Asp448Gly No assertion criteria developmental and epileptic encephalopathy, 9
  • p.Asp499Tyr No assertion criteria Refractory epilepsy with Lennox Gastaut syndrome
  • p.Asp558His No assertion criteria developmental and epileptic encephalopathy, 9
  • p.Gln164fs No assertion criteria Bilateral tonic-clonic seizure
  • p.Gln201Pro No assertion criteria developmental and epileptic encephalopathy, 9
  • p.Leu260Arg No assertion criteria developmental and epileptic encephalopathy, 9
  • p.Leu640Arg No assertion criteria developmental and epileptic encephalopathy, 9

Conflicting classifications of pathogenicity 72

  • c.2617-7A>G Single submitter developmental and epileptic encephalopathy, 9
  • p.Ala1088Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala153Ile Single submitter developmental and epileptic encephalopathy, 9
  • p.Ala369Pro Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala517Thr Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala547Pro Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg1013Trp Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg1053Gln Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg1053Trp Single submitter Inborn genetic diseases
  • p.Arg1092Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg207Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg478= Single submitter developmental and epileptic encephalopathy, 9
  • p.Arg625Gly Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg923Trp Single submitter developmental and epileptic encephalopathy, 9
  • p.Arg980His Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn1103Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn234Asp Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn270Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn580Lys Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn932= Single submitter Inborn genetic diseases
  • p.Asn989His Single submitter Inborn genetic diseases ⚠
  • p.Asp155Asn Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp375Asn Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp448Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asp479Asn Single submitter ⚠
  • p.Asp706Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp898= Single submitter developmental and epileptic encephalopathy, 9
  • p.Cys99Tyr Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Gln914= Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly1019= Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly182Ala Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Gly483Ser Single submitter ⚠
  • p.Gly486Arg Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Gly513Val Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Gly631Trp Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ile101del Single submitter developmental and epileptic encephalopathy, 9
  • p.Ile1043Phe Single submitter Inborn genetic diseases ⚠
  • p.Ile1043Val Single submitter Inborn genetic diseases ⚠
  • p.Ile552Met Single submitter Inborn genetic diseases ⚠
  • p.Ile890Val Single submitter Inborn genetic diseases ⚠
  • p.Leu1069Phe Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Leu176= Single submitter Inborn genetic diseases
  • p.Leu314= Single submitter developmental and epileptic encephalopathy, 9
  • p.Lys1135= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro1046= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro1079Thr Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Pro451Leu Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Pro451Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Pro55Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro561Arg Single submitter Inborn genetic diseases ⚠
  • p.Pro567Arg Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Pro567Leu Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Pro76= Single submitter
  • p.Ser1074Cys Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ser139Leu Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ser403= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser67= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser892Asn Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ser907= Single submitter Inborn genetic diseases
  • p.Thr440Ile Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Thr444Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr467= Single submitter developmental and epileptic encephalopathy, 9
  • p.Thr626Ile Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Thr712= Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr516= Single submitter developmental and epileptic encephalopathy, 9
  • p.Val1147Ile Single submitter Inborn genetic diseases ⚠
  • p.Val228= Single submitter Inborn genetic diseases
  • p.Val257Leu Single submitter Inborn genetic diseases ⚠
  • p.Val441Leu Single submitter Inborn genetic diseases ⚠
  • p.Val462Met Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Val493Met Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Val72Gly Single submitter developmental and epileptic encephalopathy, 9 ⚠

Benign 13

Benign/Likely benign 27

  • c.*8T>C Multiple submitters
  • p.Ala656= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Ala930= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Arg1107Gly Multiple submitters Inborn genetic diseases
  • p.Arg1107His Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Arg958Gln Multiple submitters Inborn genetic diseases
  • p.Arg980Cys Multiple submitters Inborn genetic diseases
  • p.Asn171= Multiple submitters Inborn genetic diseases
  • p.Asp1117= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Glu177= Multiple submitters Inborn genetic diseases
  • p.Glu2= Multiple submitters Inborn genetic diseases
  • p.Gly296= Multiple submitters Inborn genetic diseases
  • p.Gly379= Multiple submitters Inborn genetic diseases
  • p.Leu1094Val Multiple submitters Inborn genetic diseases
  • p.Leu12del Multiple submitters
  • p.Leu219= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Leu540Phe Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Met432Val Multiple submitters Inborn genetic diseases
  • p.Phe630= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Pro1079Ala Multiple submitters Inborn genetic diseases
  • p.Pro1138Ser Multiple submitters Inborn genetic diseases
  • p.Pro561= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Thr221Ser Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Thr548= Multiple submitters Inborn genetic diseases
  • p.Tyr27= Multiple submitters Inborn genetic diseases
  • p.Val1039= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Val575= Multiple submitters Inborn genetic diseases

Likely benign 283

  • c.-119C>T Multiple submitters
  • p.Ala1004= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Ala13= Multiple submitters Inborn genetic diseases
  • p.Ala210= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Ala369= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Ala535= Multiple submitters Inborn genetic diseases
  • p.Ala654= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Ala665= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Arg1013= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Arg62= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Asn1103= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Asn282= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Asp1040= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Asp197= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Asp264= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Asp266= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Asp338= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Cys1008= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Cys113= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Cys927= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Glu1131= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Gly1139Ser Multiple submitters developmental and epileptic encephalopathy, 9
  • p.His310= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.His523= Multiple submitters Inborn genetic diseases
  • p.Ile39= Multiple submitters
  • p.Ile552= Multiple submitters Inborn genetic diseases
  • p.Leu1087= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Leu12= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Leu297= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Leu482= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Leu5= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Leu518= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Leu534= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Leu677= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Pro1068= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Pro216= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Pro256= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Ser107= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Ser1080= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Ser353= Multiple submitters Inborn genetic diseases
  • p.Ser361= Multiple submitters Inborn genetic diseases
  • p.Ser59= Multiple submitters Inborn genetic diseases
  • p.Ser741= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Ser77= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Thr1011= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Thr146= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Thr17= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Thr940= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Thr998= Multiple submitters Inborn genetic diseases
  • p.Tyr605= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Tyr882= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Val247= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Val358= Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Val675Gly Multiple submitters Inborn genetic diseases
  • c.2147+12T>C Single submitter developmental and epileptic encephalopathy, 9
  • c.2147+16C>T Single submitter
  • c.2147+18T>C Single submitter developmental and epileptic encephalopathy, 9
  • c.2148-12del Single submitter developmental and epileptic encephalopathy, 9
  • c.2148-18C>T Single submitter developmental and epileptic encephalopathy, 9
  • c.2616+248A>G Single submitter
  • c.2617-19T>A Single submitter developmental and epileptic encephalopathy, 9
  • c.2617-19T>C Single submitter developmental and epileptic encephalopathy, 9
  • c.2675+7T>C Single submitter developmental and epileptic encephalopathy, 9
  • c.2675+8G>T Single submitter
  • c.2676-10T>G Single submitter developmental and epileptic encephalopathy, 9
  • c.2676-11C>T Single submitter developmental and epileptic encephalopathy, 9
  • c.2676-15C>T Single submitter developmental and epileptic encephalopathy, 9
  • c.2676-17T>C Single submitter developmental and epileptic encephalopathy, 9
  • c.2676-218C>T Single submitter
  • c.2676-8C>A Single submitter developmental and epileptic encephalopathy, 9
  • c.2676-8C>T Single submitter developmental and epileptic encephalopathy, 9
  • c.2848+18G>T Single submitter developmental and epileptic encephalopathy, 9
  • c.2848+7A>G Single submitter developmental and epileptic encephalopathy, 9
  • c.2849-13T>C Single submitter developmental and epileptic encephalopathy, 9
  • c.2849-5A>T Single submitter
  • c.2849-8C>G Single submitter developmental and epileptic encephalopathy, 9
  • c.-1142CGG[11] Single submitter
  • c.-38del Single submitter
  • c.-38G>T Single submitter
  • c.-42del Single submitter
  • c.-47C>T Single submitter
  • c.-9C>T Single submitter
  • p.Ala1061= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ala126= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ala188= Single submitter
  • p.Ala20= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ala436= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ala477= Single submitter Inborn genetic diseases
  • p.Ala517= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ala547= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ala573= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ala592= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ala684= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ala992= Single submitter developmental and epileptic encephalopathy, 9
  • p.Arg1030= Single submitter developmental and epileptic encephalopathy, 9
  • p.Arg181= Single submitter developmental and epileptic encephalopathy, 9
  • p.Arg198= Single submitter developmental and epileptic encephalopathy, 9
  • p.Arg286= Single submitter developmental and epileptic encephalopathy, 9
  • p.Arg372= Single submitter developmental and epileptic encephalopathy, 9
  • p.Arg376= Single submitter developmental and epileptic encephalopathy, 9
  • p.Arg395= Single submitter developmental and epileptic encephalopathy, 9
  • p.Arg47= Single submitter developmental and epileptic encephalopathy, 9
  • p.Arg56= Single submitter developmental and epileptic encephalopathy, 9
  • p.Arg579= Single submitter developmental and epileptic encephalopathy, 9
  • p.Arg602= Single submitter developmental and epileptic encephalopathy, 9
  • p.Arg612= Single submitter developmental and epileptic encephalopathy, 9
  • p.Arg923= Single submitter
  • p.Arg969= Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn1057= Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn1100= Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn1102= Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn123= Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn235= Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn261= Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn270= Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn347= Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn352= Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn420= Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn449= Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn485= Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn570= Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn621= Single submitter
  • p.Asp212= Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp305= Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp45= Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp481= Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp537= Single submitter
  • p.Asp54= Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp913= Single submitter developmental and epileptic encephalopathy, 9
  • p.Cys727= Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln272= Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln397= Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln424= Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln922= Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu1003= Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu118= Single submitter
  • p.Glu135= Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu189= Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu240= Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu31= Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu400= Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu464= Single submitter
  • p.Glu574= Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu639= Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly1058= Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly213= Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly268= Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly322= Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly365= Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly428= Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly469= Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly486= Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly538Ser Single submitter
  • p.Gly584= Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly601= Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly610= Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly965= Single submitter
  • p.His1025= Single submitter developmental and epileptic encephalopathy, 9
  • p.His294= Single submitter developmental and epileptic encephalopathy, 9
  • p.His416Asn Single submitter developmental and epileptic encephalopathy, 9
  • p.His647= Single submitter developmental and epileptic encephalopathy, 9
  • p.His70= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ile112= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ile226= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ile291= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ile553= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ile691= Single submitter
  • p.Ile74= Single submitter
  • p.Ile991= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu10= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu103= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu1069= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu1071= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu11= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu122= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu190= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu211= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu288= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu349= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu370= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu388= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu389= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu396= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu4= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu406= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu421= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu433= Single submitter
  • p.Leu540= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu554= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu568= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu640= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu652= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu657= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu659= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu679= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu725= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu9= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu92= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu993= Single submitter developmental and epileptic encephalopathy, 9
  • p.Lys227= Single submitter developmental and epileptic encephalopathy, 9
  • p.Lys26= Single submitter developmental and epileptic encephalopathy, 9
  • p.Lys319= Single submitter developmental and epileptic encephalopathy, 9
  • p.Lys527= Single submitter developmental and epileptic encephalopathy, 9
  • p.Phe1015= Single submitter developmental and epileptic encephalopathy, 9
  • p.Phe206= Single submitter developmental and epileptic encephalopathy, 9
  • p.Phe277= Single submitter developmental and epileptic encephalopathy, 9
  • p.Phe531= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro1026= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro1076= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro1090= Single submitter
  • p.Pro1108= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro1113= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro130= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro265= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro293= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro327= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro343= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro344= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro364= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro451= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro480= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro510= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro541= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro55= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro664= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro7= Single submitter developmental and epileptic encephalopathy, 9
  • p.Pro984= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser1073= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser1118= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser1118Asn Single submitter
  • p.Ser139= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser152= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser158= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser202= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser263= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser28= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser454= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser495= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser512= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser637= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser678= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser743Thr Single submitter
  • p.Ser78= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser893= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser941= Single submitter developmental and epileptic encephalopathy, 9
  • p.Ser981= Single submitter developmental and epileptic encephalopathy, 9
  • p.Thr1017= Single submitter developmental and epileptic encephalopathy, 9
  • p.Thr1032= Single submitter developmental and epileptic encephalopathy, 9
  • p.Thr1038= Single submitter developmental and epileptic encephalopathy, 9
  • p.Thr180= Single submitter developmental and epileptic encephalopathy, 9
  • p.Thr229= Single submitter developmental and epileptic encephalopathy, 9
  • p.Thr255= Single submitter developmental and epileptic encephalopathy, 9
  • p.Thr269= Single submitter developmental and epileptic encephalopathy, 9
  • p.Thr504= Single submitter developmental and epileptic encephalopathy, 9
  • p.Thr572= Single submitter developmental and epileptic encephalopathy, 9
  • p.Thr627= Single submitter developmental and epileptic encephalopathy, 9
  • p.Thr629= Single submitter developmental and epileptic encephalopathy, 9
  • p.Thr83= Single submitter developmental and epileptic encephalopathy, 9
  • p.Thr873= Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr243= Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr457= Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr585= Single submitter developmental and epileptic encephalopathy, 9
  • p.Tyr595= Single submitter developmental and epileptic encephalopathy, 9
  • p.Val1022= Single submitter developmental and epileptic encephalopathy, 9
  • p.Val105= Single submitter developmental and epileptic encephalopathy, 9
  • p.Val1065= Single submitter developmental and epileptic encephalopathy, 9
  • p.Val191= Single submitter developmental and epileptic encephalopathy, 9
  • p.Val245= Single submitter developmental and epileptic encephalopathy, 9
  • p.Val274= Single submitter developmental and epileptic encephalopathy, 9
  • p.Val298= Single submitter developmental and epileptic encephalopathy, 9
  • p.Val316= Single submitter developmental and epileptic encephalopathy, 9
  • p.Val334= Single submitter developmental and epileptic encephalopathy, 9
  • p.Val367= Single submitter developmental and epileptic encephalopathy, 9
  • p.Val392= Single submitter developmental and epileptic encephalopathy, 9
  • p.Val502= Single submitter developmental and epileptic encephalopathy, 9
  • p.Val506= Single submitter developmental and epileptic encephalopathy, 9
  • p.Val506Ile Single submitter autism spectrum disorder
  • p.Val551= Single submitter developmental and epileptic encephalopathy, 9
  • p.Val658= Single submitter developmental and epileptic encephalopathy, 9
  • p.Val675= Single submitter developmental and epileptic encephalopathy, 9
  • p.Val694= Single submitter developmental and epileptic encephalopathy, 9
  • p.Leu348= No assertion criteria PCDH19-related disorder
  • p.Thr626= No assertion criteria PCDH19-related disorder

Uncertain significance 575

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

  • p.Ala1027Thr Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala52Pro Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala565Thr Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala58Ser Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala68Thr Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala887Thr Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala992Val Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg1133His Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg1142Cys Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg284His Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg426Cys Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Arg478Cys Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg56Gly Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg958Trp Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg962Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg974Trp Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn381Ser Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn391Ser Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn509Ser Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn559Asp Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn75Ser Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn881His Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn881Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Asp215His Multiple submitters Inborn genetic diseases ⚠
  • p.Asp264Tyr Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp292Asn Multiple submitters ⚠
  • p.Asp320His Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp427Glu Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp596Asn Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp606Asn Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp606Gly Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp606Tyr Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp618_Gln619delinsAlaLysSerGlu Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Asp933Gly Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Cys386Phe Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Gln290His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln496His Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu1003Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1028Lys Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu1119Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu1119Ter Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Glu240Gln Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu30Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Glu574Asp Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Gly182Arg Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Gly271Ser Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Gly36Arg Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Gly409Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gly409Arg Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Gly598Ser Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Gly648Ser Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Gly686Ser Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Gly943Glu Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.His1025Tyr Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.His310Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.His738Leu Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.His909Arg Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Ile100Phe Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Ile101Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile1146Thr Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Ile208Asn Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Ile346Thr Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Ile461Thr Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Ile577Val Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Leu12_Ala13insLeu Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Leu388Phe Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Leu411Gln Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Leu473His Multiple submitters ⚠
  • p.Leu473Phe Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Leu554Phe Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Leu92del Multiple submitters
  • p.Lys1135fs Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Lys1141Glu Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Lys26Met Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Lys635Arg Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Lys891Arg Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Lys905Arg Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Lys98Gln Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Met110Val Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Met946Val Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Phe187Val Multiple submitters Inborn genetic diseases ⚠
  • p.Phe206Cys Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Phe896Ser Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Pro252Ser Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Pro253Leu Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Pro364Ala Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Pro393Ser Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Pro494Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ser1118Gly Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Ser160Asn Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Ser205Arg Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Ser239Arg Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Ser241Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Ser263Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser335Asn Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Ser454Asn Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Ser894Tyr Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Thr1032Ile Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Thr180Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Thr229Ile Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Thr299Ile Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Thr301Ile Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Thr404Ala Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Thr548Met Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Thr608Ile Multiple submitters X-linked complex neurodevelopmental disorder ⚠
  • p.Thr929Ile Multiple submitters PCDH19-related disorder ⚠
  • p.Tyr366Cys Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Tyr661Ser Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Val1081Leu Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Val114Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val191Leu Multiple submitters developmental and epileptic encephalopathy, 9
  • p.Val192Met Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Val300Ala Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Val332Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val42Met Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Val551Ala Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • p.Val642Met Multiple submitters developmental and epileptic encephalopathy, 9 ⚠
  • c.2148-8C>T Single submitter developmental and epileptic encephalopathy, 9
  • c.2675+5G>C Single submitter developmental and epileptic encephalopathy, 9
  • c.2849-12T>C Single submitter
  • p.1098VNN[1] Single submitter developmental and epileptic encephalopathy, 9
  • p.Ala1004Val Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala1016Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala1016Thr Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala1061Val Single submitter ⚠
  • p.Ala1091Val Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala132Thr Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala13Thr Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala19Val Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala20Pro Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala20Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala20Val Single submitter ⚠
  • p.Ala21del Single submitter
  • p.Ala244Thr Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala262Asp Single submitter ⚠
  • p.Ala262Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala35Pro Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala362Val Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala46Thr Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala477Asp Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala477Val Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala49Thr Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala52Val Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala547Phe Single submitter developmental and epileptic encephalopathy, 9
  • p.Ala547Thr Single submitter ⚠
  • p.Ala573Gly Single submitter developmental and epileptic encephalopathy, 9
  • p.Ala654Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala665Asn Single submitter developmental and epileptic encephalopathy, 9
  • p.Ala684Val Single submitter Inborn genetic diseases ⚠
  • p.Ala68Val Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala992Glu Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala992Thr Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Ala997Thr Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg1114His Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg1114Pro Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg1114Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg147Cys Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg198His Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg218Gly Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg218Leu Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg218Pro Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg259Cys Single submitter ⚠
  • p.Arg284Leu Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg376Gly Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg383His Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg387Gly Single submitter ⚠
  • p.Arg410Gly Single submitter ⚠
  • p.Arg410Trp Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg413Cys Single submitter ⚠
  • p.Arg413Pro Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg47Leu Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg498Gln Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg498Trp Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg550Gln Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg550Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg56Gln Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg602Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg602Gly Single submitter ⚠
  • p.Arg612Leu Single submitter ⚠
  • p.Arg628Cys Single submitter
  • p.Arg705Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg705Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg886Gln Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg923Gln Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg94Gly Single submitter ⚠
  • p.Arg962Gln Single submitter developmental and epileptic encephalopathy, 9
  • p.Arg974Gln Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Arg988Lys Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn1100Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn1102Ser Single submitter ⚠
  • p.Asn171Lys Single submitter ⚠
  • p.Asn171Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn235del Single submitter developmental and epileptic encephalopathy, 9
  • p.Asn235Tyr Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn250Lys Single submitter ⚠
  • p.Asn254Asp Single submitter Inborn genetic diseases ⚠
  • p.Asn254Lys Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn282Asp Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn282Ser Single submitter ⚠
  • p.Asn340His Single submitter ⚠
  • p.Asn347Thr Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn41Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn447Thr Single submitter ⚠
  • p.Asn509Thr Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn546Ser Single submitter ⚠
  • p.Asn557Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn580Thr Single submitter Inborn genetic diseases ⚠
  • p.Asn600Lys Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn621Asp Single submitter ⚠
  • p.Asn621Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn66Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn707Asp Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn902Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn932Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asn952Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp1001Asn Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp1001Gly Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp1001Val Single submitter developmental and epileptic encephalopathy, 9
  • p.Asp1007Ala Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp1007Asn Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp1007Glu Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp1021Gly Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp1024Asn Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp1024His Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp1040Asn Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp1093His Single submitter ⚠
  • p.Asp1145Glu Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp197Glu Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp215Val Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp233Glu Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp264Glu Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp320Asn Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp320Gly Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp338Tyr Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp375Gly Single submitter ⚠
  • p.Asp417Gly Single submitter
  • p.Asp417Tyr Single submitter ⚠
  • p.Asp417Val Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp427Asn Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp445Glu Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp481Glu Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp537Asn Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp537Glu Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp611His Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp618Glu Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp646His Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Asp73Gly Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Cys1044Arg Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Cys1044Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Cys736Arg Single submitter Inborn genetic diseases ⚠
  • p.Cys99Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Gln1096Lys Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Gln164_Asn171del Single submitter developmental and epileptic encephalopathy, 9
  • p.Gln201Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln201Lys Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Gln317Glu Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Gln33Lys Single submitter ⚠
  • p.Gln418Glu Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Gln418Lys Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Gln496Leu Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Gln732Arg Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Gln85Arg Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Gln945Ter Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu1029Asp Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu1119Val Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu1124Gln Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu140Gln Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu177Gln Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu189Lys Single submitter ⚠
  • p.Glu199Asp Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu199Gly Single submitter ⚠
  • p.Glu267del Single submitter developmental and epileptic encephalopathy, 9
  • p.Glu267Lys Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu307Lys Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu308Lys Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu354Gln Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu357Gln Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu357Lys Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu360Ala Single submitter ⚠
  • p.Glu360Asp Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu360Gln Single submitter ⚠
  • p.Glu414Val Single submitter ⚠
  • p.Glu464Gln Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu574Gly Single submitter ⚠
  • p.Glu593Val Single submitter ⚠
  • p.Glu609Gln Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu670Gln Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu709Gln Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu910Asp Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu911Asp Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu918Asp Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu918Lys Single submitter ⚠
  • p.Glu953Val Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Glu959Lys Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Gly1009Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Gly1035= Single submitter developmental and epileptic encephalopathy, 9
  • p.Gly1035Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Gly1115Val Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Gly1132Ser Single submitter developmental and epileptic encephalopathy, 9 ⚠
  • p.Gly1139Asp Single submitter developmental and epileptic encephalopathy, 9 ⚠