Sugi Variant

Sugi Variant/ARX

ARX — 859 ClinVar variants

All ClinVar germline ARX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 342 flagged for review →

94 Pathogenic · 11 Pathogenic/Likely pathogenic · 24 Likely pathogenic · 60 Conflicting · 18 Benign · 12 Benign/Likely benign · 298 Likely benign · 342 Uncertain significance

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

⚑ Evidence disagreements 342

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 20

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

Predictors lean, ClinVar uncertain 168

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 168

Predictors split 154

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 154

All ARX variants

Pathogenic 94

  • p.Ala105_Ala115dup Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala108_Ala115dup Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Arg332His Multiple submitters corpus callosum agenesis-abnormal genitalia syndrome
  • p.Arg371Ter Multiple submitters X-linked ARX-related disorders
  • p.Glu294Ter Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Glu308Ter Multiple submitters Inborn genetic diseases
  • p.Gly120fs Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Leu410fs Multiple submitters X-linked lissencephaly with abnormal genitalia
  • p.Leu491fs Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Pro353Leu Multiple submitters Partington syndrome
  • p.Pro490_Leu491insTer Multiple submitters developmental and epileptic encephalopathy, 1
  • c.1120-2A>G Single submitter developmental and epileptic encephalopathy, 1
  • c.1120-82_1469dup Single submitter X-linked lissencephaly with abnormal genitalia
  • c.1446_1448+1dup Single submitter intellectual disability
  • c.1449-8_1453del Single submitter corpus callosum agenesis-abnormal genitalia syndrome
  • c.1449-82_1469dup Single submitter X-linked lissencephaly with abnormal genitalia
  • c.196+129_1073+903del Single submitter ARX-associated condition
  • p.? Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Ala112fs Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Ala142fs Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Ala146fs Single submitter
  • p.Ala151_Ala152insGlyAlaGlyAlaAlaAlaAlaAlaAlaAlaAla Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala151fs Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala153fs Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala164fs Single submitter
  • p.Ala188Ter Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Ala381fs Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Ala381Thr Single submitter
  • p.Ala389fs Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Ala425fs Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala458fs Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Ala469fs Single submitter X-linked spasticity-intellectual disability-epilepsy syndrome
  • p.Ala489fs Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Ala52fs Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Ala534fs Single submitter
  • p.Ala58fs Single submitter
  • p.Arg264fs Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Arg332Leu Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Arg371fs Single submitter developmental and epileptic encephalopathy, 1
  • p.Arg384fs Single submitter
  • p.Arg472_Phe476del Single submitter developmental and epileptic encephalopathy, 1
  • p.Arg472Ter Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Arg527Ter Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Asp366fs Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Asp519fs Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Cys10fs Single submitter Partington syndrome
  • p.Cys16Ter Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Gln377fs Single submitter
  • p.Gln65Ter Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Glu124Ter Single submitter developmental and epileptic encephalopathy, 1
  • p.Glu12Ter Single submitter epileptic encephalopathy, early infanitle, 1
  • p.Glu137fs Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Glu344Ter Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Gly143_Ala153dup Single submitter developmental and epileptic encephalopathy, 1
  • p.Gly206fs Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Gly316fs Single submitter corpus callosum agenesis-abnormal genitalia syndrome
  • p.Gly457fs Single submitter developmental and epileptic encephalopathy, 1
  • p.Gly482fs Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Gly515fs Single submitter epileptic encephalopathy, early infanitle, 1
  • p.His394fs Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ile477fs Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu205fs Single submitter
  • p.Leu324fs Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu500fs Single submitter developmental and epileptic encephalopathy, 1
  • p.Lys19fs Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Lys327fs Single submitter
  • p.Met1Arg Single submitter corpus callosum agenesis-abnormal genitalia syndrome
  • p.Phe335fs Single submitter developmental and epileptic encephalopathy, 1
  • p.Phe419fs Single submitter
  • p.Pro127fs Single submitter developmental and epileptic encephalopathy, 1
  • p.Pro187fs Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Pro215fs Single submitter developmental and epileptic encephalopathy, 1
  • p.Pro447fs Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Pro520fs Single submitter developmental and epileptic encephalopathy, 1
  • p.Ser162fs Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ser168fs Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Thr333Asn Single submitter corpus callosum agenesis-abnormal genitalia syndrome
  • p.Thr333Ser Single submitter epileptic encephalopathy, early infanitle, 1
  • p.Trp156Ter Single submitter
  • p.Trp375Ter Single submitter developmental and epileptic encephalopathy, 1
  • p.Tyr175Ter Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Val198fs Single submitter developmental and epileptic encephalopathy, 1
  • p.Val512fs Single submitter Hydranencephaly with abnormal genitalia
  • c.1449-816_*460del No assertion criteria developmental and epileptic encephalopathy, 1
  • p.Ala147_Ala155dup No assertion criteria developmental and epileptic encephalopathy, 1
  • p.Arg384Leu No assertion criteria
  • p.Gln373Ter No assertion criteria X-linked lissencephaly with abnormal genitalia
  • p.Glu369Ter No assertion criteria Hydranencephaly with abnormal genitalia
  • p.Glu509fs No assertion criteria intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Glu78Ter No assertion criteria X-linked lissencephaly with abnormal genitalia
  • p.Leu33Pro No assertion criteria intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Leu343Gln No assertion criteria X-linked lissencephaly with abnormal genitalia
  • p.Leu535Gln No assertion criteria developmental and epileptic encephalopathy, 1
  • p.Ser18fs No assertion criteria Abnormal synaptic transmission

Pathogenic/Likely pathogenic 11

  • p.Ala109_Ala115dup Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Arg332Cys Multiple submitters Periventricular heterotopia
  • p.Arg332Gly Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Arg384Cys Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Cys10Ter Multiple submitters
  • p.Gly197fs Multiple submitters X-linked ARX-related disorders
  • p.Gly397fs Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Lys538Glu Multiple submitters corpus callosum agenesis-abnormal genitalia syndrome
  • p.Ser319Ter Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala458_Pro459insTer Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Tyr27Ter No assertion criteria developmental and epileptic encephalopathy, 1

Likely pathogenic 24

  • p.Arg330His Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Arg371Gln Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala145fs Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Ala275fs Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Ala511fs Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala534Pro Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala539Thr Single submitter developmental and epileptic encephalopathy, 1
  • p.Arg332_Tyr338del Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Arg379Cys Single submitter developmental and epileptic encephalopathy, 1
  • p.Arg379Ser Single submitter developmental and epileptic encephalopathy, 1
  • p.Asn378Lys Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Cys28Ter Single submitter developmental and epileptic encephalopathy, 1
  • p.Glu387Ter Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Gly143_Ala154dup Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Leu462fs Single submitter Inborn genetic diseases
  • p.Met1Leu Single submitter developmental and epileptic encephalopathy, 1
  • p.Met1Thr Single submitter developmental and epileptic encephalopathy, 1
  • p.Phe347Val Single submitter developmental and epileptic encephalopathy, 1
  • p.Pro403fs Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Ser493fs Single submitter ARX-related disorder
  • p.Ser531fs Single submitter corpus callosum agenesis-abnormal genitalia syndrome
  • p.Val374Asp Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Ala518fs No assertion criteria intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Arg527fs No assertion criteria Generalized hypotonia

Conflicting classifications of pathogenicity 60

  • c.1119+6C>T Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala101= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala102= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala111_Ala115del Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala112= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala112_Ala115del Single submitter Inborn genetic diseases
  • p.Ala114_Ala115dup Single submitter Inborn genetic diseases
  • p.Ala115dup Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala145Ser Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala147Val Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Ala149= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala153Thr Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala270Thr Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala315= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala381Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala437_Ala440del Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala438_Ala440del Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala439_Ala440del Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala439_Ala440dup Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala440del Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala475= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala63Thr Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Arg204His Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg257= Single submitter developmental and epileptic encephalopathy, 1
  • p.Arg257Pro Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg384His Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg536Ser Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Arg536Thr Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Asp427= Single submitter developmental and epileptic encephalopathy, 1
  • p.Glu249= Single submitter developmental and epileptic encephalopathy, 1
  • p.Glu369Lys Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly141Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly143_Ala150dup Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Gly196Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly197Asp Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly209Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly219= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gly286Ser Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Gly390= Single submitter Inborn genetic diseases
  • p.Gly482Ser Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.His423= Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu205Phe Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Leu491Met Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Leu97= Single submitter developmental and epileptic encephalopathy, 1
  • p.Met488Val Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Phe376Leu Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Phe75Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro185Gln Single submitter Inborn genetic diseases ⚠
  • p.Pro211Leu Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Pro396Thr Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Pro445Ser Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro53Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ser463Asn Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Ser71Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser72Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser72Thr Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Thr199Arg Single submitter Inborn genetic diseases ⚠
  • p.Thr557= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Val268Leu Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Val274Ala Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠

Benign 18

  • c.1073+191C>T Multiple submitters
  • c.1073+225C>T Multiple submitters
  • c.1074-3T>C Multiple submitters developmental and epileptic encephalopathy, 1
  • c.1120-157C>G Multiple submitters
  • c.-83C>A Multiple submitters
  • p.Ala151_Ala155del Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Gly449= Multiple submitters developmental and epileptic encephalopathy, 1
  • c.1073+20G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.1448+161dup Single submitter
  • p.Ala155del Single submitter
  • p.Asp246= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gly402Arg Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Gly449Ser Single submitter developmental and epileptic encephalopathy, 1
  • p.Gly510Asp Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Leu33= Single submitter developmental and epileptic encephalopathy, 1
  • p.Pro121Thr Single submitter developmental and epileptic encephalopathy, 1
  • p.Pro211Arg Single submitter developmental and epileptic encephalopathy, 1
  • p.Val508= Single submitter developmental and epileptic encephalopathy, 1

Benign/Likely benign 12

  • p.Ala114_Ala115del Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala148_Ala155del Multiple submitters Inborn genetic diseases
  • p.Ala269= Multiple submitters Inborn genetic diseases
  • p.Ala416Gly Multiple submitters Inborn genetic diseases
  • p.Ala432= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Ala440dup Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Ala507= Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Gly143_Ala150del Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Leu50= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Pro181= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Pro424= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Thr221= Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related

Likely benign 298

  • c.1074-5T>C Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related
  • c.1448+9C>A Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Ala105= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Ala109= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Ala117= Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala151= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Ala154= Multiple submitters Inborn genetic diseases
  • p.Ala214= Multiple submitters Inborn genetic diseases
  • p.Ala280= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Ala425= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Ala46Asp Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala511= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Ala533= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Ala543= Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Asp236= Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Asp247His Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Glu285= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Gly197= Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Gly209Ser Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Leu259Pro Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Leu535= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Leu79= Multiple submitters Inborn genetic diseases
  • p.Pro186= Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Pro291= Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Pro420= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Pro91= Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ser174= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Ser411= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Ser463= Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ser556= Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Ser56Gly Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Thr496= Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Thr505= Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Tyr5Phe Multiple submitters Inborn genetic diseases
  • c.1073+13G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.1073+14G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.1073+14G>T Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • c.1073+18T>C Single submitter developmental and epileptic encephalopathy, 1
  • c.1073+19C>T Single submitter developmental and epileptic encephalopathy, 1
  • c.1073+279G>C Single submitter
  • c.1073+7G>A Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • c.1073+8C>A Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • c.1073+9G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.1073+9G>C Single submitter developmental and epileptic encephalopathy, 1
  • c.1074-18T>C Single submitter developmental and epileptic encephalopathy, 1
  • c.1074-20T>G Single submitter developmental and epileptic encephalopathy, 1
  • c.1074-7C>A Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • c.1119+14C>T Single submitter developmental and epileptic encephalopathy, 1
  • c.1119+16G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.1119+20G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.1119+9C>T Single submitter developmental and epileptic encephalopathy, 1
  • c.1120-12T>G Single submitter developmental and epileptic encephalopathy, 1
  • c.1120-17CT[3] Single submitter developmental and epileptic encephalopathy, 1
  • c.1120-4G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.1120-5del Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • c.1448+10A>G Single submitter developmental and epileptic encephalopathy, 1
  • c.1448+11G>C Single submitter developmental and epileptic encephalopathy, 1
  • c.1448+14T>A Single submitter developmental and epileptic encephalopathy, 1
  • c.1448+14T>C Single submitter developmental and epileptic encephalopathy, 1
  • c.1448+15C>T Single submitter developmental and epileptic encephalopathy, 1
  • c.1448+16G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.1448+171del Single submitter
  • c.1448+19del Single submitter developmental and epileptic encephalopathy, 1
  • c.1448+20G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.1448+7_1448+9del Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • c.1448+7C>A Single submitter developmental and epileptic encephalopathy, 1
  • c.1448+8G>A Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • c.1449-10C>T Single submitter developmental and epileptic encephalopathy, 1
  • c.1449-11T>C Single submitter developmental and epileptic encephalopathy, 1
  • c.1449-13G>A Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • c.1449-20G>A Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • c.1449-211T>C Single submitter
  • c.1449-4G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.196+14C>G Single submitter developmental and epileptic encephalopathy, 1
  • c.196+14C>T Single submitter developmental and epileptic encephalopathy, 1
  • c.196+15G>A Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • c.196+6G>T Single submitter
  • c.197-15C>T Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • c.197-4G>A Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • c.197-5C>T Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • c.-16G>T Single submitter
  • c.-37C>A Single submitter
  • c.*20C>T Single submitter
  • c.*2G>C Single submitter
  • p.Ala100= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala104= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala106= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala108= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala110= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala111= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala112_Ala113insGly Single submitter
  • p.Ala113_Ala115del Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala114= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala115= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala115_Thr116insAla Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala125= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala133= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala142= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala142Gly Single submitter X-linked lissencephaly with abnormal genitalia
  • p.Ala144= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala145= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala147= Single submitter Inborn genetic diseases
  • p.Ala149_Ala155del Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala150= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala153_Ala155del Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala154_Ala155del Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala164= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala180= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala188= Single submitter
  • p.Ala217= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala256= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala258= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala270= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala273= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala275= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala277= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala278Thr Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Ala279= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala381= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala391= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala416= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala433= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala434= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala435= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala436= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala437= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala438= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala440= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala458= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala46= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala468= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala47= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala480= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala497= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala498= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala499= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala523= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala524= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala525= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala529= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala534= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala58= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala73= Single submitter developmental and epileptic encephalopathy, 1
  • p.Arg138= Single submitter
  • p.Arg171= Single submitter developmental and epileptic encephalopathy, 1
  • p.Arg176= Single submitter developmental and epileptic encephalopathy, 1
  • p.Arg264= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Arg386= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Arg42= Single submitter developmental and epileptic encephalopathy, 1
  • p.Arg42Pro Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg57Cys Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Asn3Ser Single submitter developmental and epileptic encephalopathy, 1
  • p.Asp140= Single submitter developmental and epileptic encephalopathy, 1
  • p.Asp225= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Asp226= Single submitter developmental and epileptic encephalopathy, 1
  • p.Asp233= Single submitter developmental and epileptic encephalopathy, 1
  • p.Asp238= Single submitter developmental and epileptic encephalopathy, 1
  • p.Asp254= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Asp255= Single submitter developmental and epileptic encephalopathy, 1
  • p.Asp309= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Asp354= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Asp415= Single submitter developmental and epileptic encephalopathy, 1
  • p.Cys312= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gln166= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Gln339= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gln48= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gln548= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gln98= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Glu124= Single submitter developmental and epileptic encephalopathy, 1
  • p.Glu177= Single submitter developmental and epileptic encephalopathy, 1
  • p.Glu227= Single submitter developmental and epileptic encephalopathy, 1
  • p.Glu237= Single submitter developmental and epileptic encephalopathy, 1
  • p.Glu239= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Glu308= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Glu342= Single submitter developmental and epileptic encephalopathy, 1
  • p.Glu359= Single submitter
  • p.Gly123= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Gly193= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Gly206= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Gly212= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gly222Arg Single submitter developmental and epileptic encephalopathy, 1
  • p.Gly272= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gly286= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Gly307= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Gly316= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gly457= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gly482= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Gly510= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gly558= Single submitter developmental and epileptic encephalopathy, 1
  • p.Gly9= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Gly92= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Gly93= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.His394= Single submitter developmental and epileptic encephalopathy, 1
  • p.His80= Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu205= Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu230= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Leu243= Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu252= Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu260= Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu289= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Leu343= Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu361= Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu365= Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu398= Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu410= Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu426= Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu44= Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu444= Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu466= Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu491= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Leu500= Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu501= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Leu517= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Leu537= Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu546= Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu81= Single submitter developmental and epileptic encephalopathy, 1
  • p.Leu85= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Leu88= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Lys385= Single submitter developmental and epileptic encephalopathy, 1
  • p.Lys559= Single submitter developmental and epileptic encephalopathy, 1
  • p.Lys84= Single submitter developmental and epileptic encephalopathy, 1
  • p.Phe335= Single submitter developmental and epileptic encephalopathy, 1
  • p.Phe419= Single submitter developmental and epileptic encephalopathy, 1
  • p.Phe441= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Phe476= Single submitter developmental and epileptic encephalopathy, 1
  • p.Phe481= Single submitter developmental and epileptic encephalopathy, 1
  • p.Pro121= Single submitter developmental and epileptic encephalopathy, 1
  • p.Pro129= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Pro130= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Pro130Gln Single submitter ⚠
  • p.Pro14= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Pro165= Single submitter developmental and epileptic encephalopathy, 1
  • p.Pro184= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Pro184Arg Single submitter
  • p.Pro187= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Pro201= Single submitter developmental and epileptic encephalopathy, 1
  • p.Pro201Gln Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Pro211= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Pro215= Single submitter developmental and epileptic encephalopathy, 1
  • p.Pro267Ala Single submitter Inborn genetic diseases
  • p.Pro353= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Pro38= Single submitter developmental and epileptic encephalopathy, 1
  • p.Pro395= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Pro401= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Pro403= Single submitter developmental and epileptic encephalopathy, 1
  • p.Pro421= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Pro442= Single submitter developmental and epileptic encephalopathy, 1
  • p.Pro446= Single submitter developmental and epileptic encephalopathy, 1
  • p.Pro448= Single submitter developmental and epileptic encephalopathy, 1
  • p.Pro454= Single submitter developmental and epileptic encephalopathy, 1
  • p.Pro459= Single submitter
  • p.Pro490= Single submitter developmental and epileptic encephalopathy, 1
  • p.Pro506= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Pro553= Single submitter developmental and epileptic encephalopathy, 1
  • p.Pro60= Single submitter developmental and epileptic encephalopathy, 1
  • p.Pro60Arg Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Pro74= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ser11= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ser168= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ser170= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ser213= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ser310= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ser317= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ser428= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ser450= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ser493= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ser514= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ser530= Single submitter developmental and epileptic encephalopathy, 1
  • p.Ser70Gly Single submitter corpus callosum agenesis-abnormal genitalia syndrome
  • p.Ser72= Single submitter developmental and epileptic encephalopathy, 1
  • p.Thr118= Single submitter developmental and epileptic encephalopathy, 1
  • p.Thr132= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Thr199= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Thr223= Single submitter developmental and epileptic encephalopathy, 1
  • p.Thr271= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Thr284Lys Single submitter
  • p.Thr336= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Thr350= Single submitter developmental and epileptic encephalopathy, 1
  • p.Thr368= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Thr487= Single submitter
  • p.Thr522= Single submitter developmental and epileptic encephalopathy, 1
  • p.Thr547= Single submitter developmental and epileptic encephalopathy, 1
  • p.Thr55= Single submitter
  • p.Tyr331= Single submitter developmental and epileptic encephalopathy, 1
  • p.Tyr338= Single submitter developmental and epileptic encephalopathy, 1
  • p.Tyr413= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Tyr89= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Val167= Single submitter developmental and epileptic encephalopathy, 1
  • p.Val183= Single submitter developmental and epileptic encephalopathy, 1
  • p.Val198= Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Val207Ala Single submitter Inborn genetic diseases
  • p.Val274= Single submitter developmental and epileptic encephalopathy, 1
  • p.Val282Glu Single submitter Inborn genetic diseases
  • p.Val372= Single submitter developmental and epileptic encephalopathy, 1
  • c.*5T>G No assertion criteria ARX-related disorder
  • p.Ala152= No assertion criteria ARX-related disorder
  • p.Asp59= No assertion criteria ARX-related disorder
  • p.Pro195= No assertion criteria ARX-related disorder

Uncertain significance 342

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

  • c.196+6G>A Multiple submitters Inborn genetic diseases
  • p.220GT[3] Multiple submitters developmental and epileptic encephalopathy, 1
  • p.240EEELLEDD[1] Multiple submitters Inborn genetic diseases
  • p.Ala110_Ala115del Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Ala111_Ala115dup Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Ala113_Ala115dup Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala125Thr Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala133Val Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala144Ser Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala146Gly Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala146Val Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Ala148Pro Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala149Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala152Thr Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Ala217Val Multiple submitters Partington syndrome ⚠
  • p.Ala258Glu Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Ala438_Ala440dup Multiple submitters Inborn genetic diseases
  • p.Ala499Pro Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Ala516Ser Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala521Thr Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala523Val Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala77Thr Multiple submitters corpus callosum agenesis-abnormal genitalia syndrome ⚠
  • p.Arg122His Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg204Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg204Pro Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Arg265His Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Asp140_Ala151del Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Asp140Tyr Multiple submitters Inborn genetic diseases ⚠
  • p.Asp225Val Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Asp226Glu Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Asp236His Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Glu227Asp Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly123Arg Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly136Arg Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly193Ala Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly210Ala Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly210Val Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Gly34Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Gly457Arg Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Gly467Val Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.His80Arg Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Ile29Thr Multiple submitters ARX-related disorder ⚠
  • p.Leu484Ile Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Leu484Phe Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Leu535Pro Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Met488Thr Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro135Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro187dup Multiple submitters developmental and epileptic encephalopathy, 1
  • p.Pro215Gln Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Pro21Ala Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Pro396Ala Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro418Ser Multiple submitters ⚠
  • p.Pro424Leu Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro442Leu Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ser317Asn Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ser31Arg Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Ser37Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Ser443Gly Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Ser486Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ser530Cys Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Thr199Lys Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • p.Thr271Ala Multiple submitters ⚠
  • p.Thr492Ser Multiple submitters intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Val198Ile Multiple submitters developmental and epileptic encephalopathy, 1 ⚠
  • c.1073+4T>C Single submitter developmental and epileptic encephalopathy, 1
  • c.1073+5G>A Single submitter developmental and epileptic encephalopathy, 1
  • c.1073+6C>T Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • c.1449-1G>C Single submitter developmental and epileptic encephalopathy, 1
  • c.1449-3C>A Single submitter developmental and epileptic encephalopathy, 1
  • c.196+401G>A Single submitter ARX-related disorder
  • p.Ala104Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala109_Ala115del Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala109Thr Single submitter ⚠
  • p.Ala112Gly Single submitter ⚠
  • p.Ala115_Thr116insAlaAlaAlaAlaAlaAla Single submitter
  • p.Ala115_Thr116insAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAlaAla Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala115del Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala119_Gly120insThrAla Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala125Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala145_Ala155del Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala145Pro Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Ala149Glu Single submitter Inborn genetic diseases ⚠
  • p.Ala149Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala150Thr Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala150Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala151Val Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Ala152Gly Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala153_Ala155dup Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala154_Ala155dup Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala154Val Single submitter ⚠
  • p.Ala155_Trp156insAlaAla Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala155_Trp156insAlaAlaAlaAlaAla Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala188Gly Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala208Val Single submitter ⚠
  • p.Ala214Asp Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala214Thr Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala216Pro Single submitter ⚠
  • p.Ala256Asp Single submitter ⚠
  • p.Ala256Pro Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala256Thr Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala269Pro Single submitter Inborn genetic diseases ⚠
  • p.Ala275Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala276Thr Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Ala277Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala280Pro Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala283Gly Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Ala302Pro Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala315Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala370Val Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Ala381Gly Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala389Thr Single submitter ⚠
  • p.Ala391Thr Single submitter ⚠
  • p.Ala406Thr Single submitter ⚠
  • p.Ala425Glu Single submitter ⚠
  • p.Ala425Thr Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala429Ser Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala433Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala438Thr Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala439Thr Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala440_Phe441insAlaAlaAlaAlaAla Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.Ala458Pro Single submitter ⚠
  • p.Ala458Thr Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Ala46Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala47Ser Single submitter ⚠
  • p.Ala47Thr Single submitter ⚠
  • p.Ala494Pro Single submitter ⚠
  • p.Ala497Pro Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala499Val Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Ala507fs Single submitter developmental and epileptic encephalopathy, 1
  • p.Ala511Glu Single submitter ⚠
  • p.Ala513Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala516Pro Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala52Asp Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala533Thr Single submitter ⚠
  • p.Ala539Val Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Ala543Ser Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala58Thr Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala63Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ala77Ser Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg13Lys Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg176Ser Single submitter ⚠
  • p.Arg204Leu Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg204Ser Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg257Cys Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg257Gly Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg257His Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg264Trp Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg326_Lys327del Single submitter
  • p.Arg330Cys Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Arg345= Single submitter
  • p.Arg345Gln Single submitter ⚠
  • p.Arg358Lys Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg35Gln Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Arg36Lys Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg379Gly Single submitter ⚠
  • p.Arg42Leu Single submitter ⚠
  • p.Arg483Lys Single submitter epileptic encephalopathy, early infanitle, 1 ⚠
  • p.Arg483Thr Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Arg528Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg86Gln Single submitter ⚠
  • p.Arg87Cys Single submitter ⚠
  • p.Arg87Pro Single submitter X-linked lissencephaly with abnormal genitalia ⚠
  • p.Arg95His Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Arg95Leu Single submitter Inborn genetic diseases ⚠
  • p.Asp238Glu Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Asp238Val Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Asp246Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp254Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp255His Single submitter ⚠
  • p.Asp30Asn Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Asp30Glu Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Asp30Tyr Single submitter epileptic encephalopathy, early infanitle, 1 ⚠
  • p.Asp519Ala Single submitter Inborn genetic diseases ⚠
  • p.Cys39Ser Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Cys562Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gln163Arg Single submitter ⚠
  • p.Gln548Leu Single submitter Inborn genetic diseases ⚠
  • p.Gln65= Single submitter developmental and epileptic encephalopathy, 1
  • p.Glu12Lys Single submitter ⚠
  • p.Glu137Asp Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Glu15Gln Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Glu15Gly Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Glu202Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu224Lys Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Glu227Lys Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Glu232Lys Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Glu234_Asp254del Single submitter developmental and epileptic encephalopathy, 1
  • p.Glu241Gly Single submitter ⚠
  • p.Glu248Gln Single submitter ⚠
  • p.Glu249Lys Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Glu250Lys Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Glu262Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu300Ala Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Glu387Asp Single submitter ⚠
  • p.Glu541Asp Single submitter ⚠
  • p.Glu541Ter Single submitter developmental and epileptic encephalopathy, 1
  • p.Glu76Gly Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Glu7Lys Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Glu8Asp Single submitter ⚠
  • p.Gly123Val Single submitter Inborn genetic diseases ⚠
  • p.Gly141Arg Single submitter ⚠
  • p.Gly143Ala Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly143Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly179Arg Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Gly209= Single submitter
  • p.Gly210Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly212_Pro215del Single submitter developmental and epileptic encephalopathy, 1
  • p.Gly212_Ser213insGlyGlyProGly Single submitter developmental and epileptic encephalopathy, 1
  • p.Gly212Val Single submitter Inborn genetic diseases ⚠
  • p.Gly218Val Single submitter ⚠
  • p.Gly220Ala Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Gly220Asp Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly220Ser Single submitter ⚠
  • p.Gly222Ala Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly222Ser Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Gly286Asp Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly304Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly304Val Single submitter ⚠
  • p.Gly307Cys Single submitter ⚠
  • p.Gly316Ser Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly402Trp Single submitter ⚠
  • p.Gly45Val Single submitter ⚠
  • p.Gly467Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly66Ala Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly66Ser Single submitter ⚠
  • p.Gly90Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly92Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Gly99Cys Single submitter ⚠
  • p.His298Leu Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.His423del Single submitter intellectual disability, X-linked, with or without seizures, ARX-related
  • p.His542Asn Single submitter Inborn genetic diseases ⚠
  • p.Ile169Asn Single submitter ⚠
  • p.Ile29Met Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ile29Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ile32Met Single submitter ⚠
  • p.Leu159Phe Single submitter Inborn genetic diseases ⚠
  • p.Leu244Pro Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Leu24Phe Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Leu296Pro Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Leu297_His298insLeu Single submitter
  • p.Leu414Val Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Leu453Arg Single submitter autism ⚠
  • p.Leu500Ile Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Leu50Phe Single submitter ⚠
  • p.Leu537Pro Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Leu85Val Single submitter ⚠
  • p.Leu97Ile Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Lys17Arg Single submitter ⚠
  • p.Lys19Gln Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Lys261Glu Single submitter Inborn genetic diseases ⚠
  • p.Lys325Arg Single submitter Inborn genetic diseases ⚠
  • p.Lys349Arg Single submitter ⚠
  • p.Lys540Glu Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Lys559Met Single submitter ⚠
  • p.Lys62Asn Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Lys84Gln Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Met41Leu Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Met41Thr Single submitter ⚠
  • p.Phe347Leu Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Phe441Leu Single submitter ⚠
  • p.Phe441Val Single submitter ⚠
  • p.Phe75Leu Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Pro126Thr Single submitter ⚠
  • p.Pro130Leu Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro130Thr Single submitter ⚠
  • p.Pro139Leu Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Pro139Thr Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Pro181Ser Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro181Thr Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro184Ala Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Pro185Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro185Ser Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro186Gln Single submitter ⚠
  • p.Pro195Leu Single submitter ⚠
  • p.Pro215Leu Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Pro263Ser Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro291Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro401Leu Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro409Arg Single submitter ⚠
  • p.Pro409Gln Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Pro418Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro420Leu Single submitter ⚠
  • p.Pro421Ala Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro421Thr Single submitter History of neurodevelopmental disorder ⚠
  • p.Pro424Ala Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro446Leu Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro448Ser Single submitter ⚠
  • p.Pro454Leu Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Pro454Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro490Leu Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro51Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro51Ser Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro520Arg Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro553Leu Single submitter ⚠
  • p.Pro60Gln Single submitter intellectual disability, X-linked, with or without seizures, ARX-related ⚠
  • p.Pro60Leu Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro74Ala Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Pro74Thr Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ser11Cys Single submitter developmental and epileptic encephalopathy, 1 ⚠
  • p.Ser170Asn Single submitter developmental and epileptic encephalopathy, 1 ⚠