Sugi Variant

Sugi Variant/BRAT1

BRAT1 — 1283 ClinVar variants

All ClinVar germline BRAT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 497 flagged for review →

61 Pathogenic · 13 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 76 Conflicting · 40 Benign · 33 Benign/Likely benign · 509 Likely benign · 516 Uncertain significance

Full BRAT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 497

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

Predictors vs ClinVar 1

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

Predictors agree, ClinVar conflicts 56

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

Predictors lean, ClinVar uncertain 362

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 362

Predictors split 78

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

All BRAT1 variants

Pathogenic 61

  • p.Cys401_Asp402delinsTer Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Gln438fs Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Gln526Ter Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Gly189_Asp190insTer Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu206Ter Multiple submitters neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • c.1498+1G>A Single submitter BRAT1-related disorder
  • c.1771-1G>A Single submitter
  • c.803+1G>C Single submitter Inborn genetic diseases
  • p.Ala642fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg177Ter Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg476fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Asp190fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Cys416fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Cys487Ter Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Cys510fs Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • p.Gln153Ter Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • p.Gln216Ter Single submitter
  • p.Gln322Ter Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Gln472Ter Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Gln496Ter Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Gln552Ter Single submitter Seizure
  • p.Gln571Ter Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Gln575Ter Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Gln590Ter Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Gln664fs Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • p.Gln762Ter Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Gln7Ter Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Gln94Ter Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Glu105Ter Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Glu500Ter Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Glu515fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Gly336fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Gly339fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Gly363fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.His133fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.His307fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu12fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu375fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu433fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu493fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu498fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu594fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu666fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu692fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Lys483fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Met1Val Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Phe703Ter Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Pro10fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Pro608fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Pro680fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Thr418fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Thr465= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Trp232Ter Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Trp35Ter Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Trp531fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Tyr675fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Val638fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala393fs No assertion criteria neonatal-onset encephalopathy with rigidity and seizures
  • p.Glu57fs No assertion criteria neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu321fs No assertion criteria neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu59Pro No assertion criteria neonatal-onset encephalopathy with rigidity and seizures

Pathogenic/Likely pathogenic 13

  • c.1371_1395+16del Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.1499-1G>T Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala112fs Multiple submitters neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • p.Arg268His Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg562Ter Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Gln196Ter Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Gln571fs Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Gly765fs Multiple submitters Inborn genetic diseases
  • p.Leu152fs Multiple submitters neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • p.Leu99fs Multiple submitters neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • p.Phe709fs Multiple submitters BRAT1-related disorder
  • p.Trp619Ter Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Val214fs Multiple submitters Early-infantile developmental and epileptic encephalopathy

Likely pathogenic 35

  • c.283-1G>A Multiple submitters neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • p.Ala642Glu Multiple submitters BRAT1-related disorder
  • p.Arg427Ter Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu140Pro Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.1015+1G>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1016-1G>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1016-2A>G Single submitter BRAT1-related disorder
  • c.1134+1G>C Single submitter Inborn genetic diseases
  • c.1135-1G>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1322-2A>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1395+2T>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1598-1G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1770+1G>A Single submitter
  • c.283-2A>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.430+5G>A Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • c.804-1G>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.923+1G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.924-1G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala141_Asp142insGlnHisProSerAlaLeuArgPheLeuAla Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg111Ter Single submitter
  • p.Arg562Pro Single submitter BRAT1-related disorder
  • p.Arg644Ter Single submitter BRAT1-related neurodevelopmental disorder
  • p.Asp276fs Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • p.Gln153Pro Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • p.Gln426Ter Single submitter
  • p.Gln50Ter Single submitter
  • p.Gln664Ter Single submitter
  • p.Gln66Ter Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.His133Arg Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures ⚠
  • p.Leu324fs Single submitter BRAT1-related disorder
  • p.Leu722Asp Single submitter
  • p.Pro323Leu Single submitter
  • p.Pro547fs Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • p.Ala286fs No assertion criteria neonatal-onset encephalopathy with rigidity and seizures
  • p.Gln506Ter No assertion criteria neurodevelopmental disorder with cerebellar atrophy and with or without seizures

Conflicting classifications of pathogenicity 76

  • c.1135-4G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1135-5C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1498+6G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.283-2A>T Single submitter neurodevelopmental disorder
  • c.924-6C>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala136Thr Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala145Val Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala164Val Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala193Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala193Val Single submitter Inborn genetic diseases ⚠
  • p.Ala540Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala565Thr Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala627Val Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala691Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala716Val Single submitter Inborn genetic diseases ⚠
  • p.Ala757Val Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala774Val Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg111Gln Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg227Cys Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg239Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg250Ser Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures ⚠
  • p.Arg381Cys Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg381His Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg399Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg427Gln Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures ⚠
  • p.Arg589Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg609Trp Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg610Trp Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg670Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg670His Single submitter Inborn genetic diseases ⚠
  • p.Arg737Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg756Gln Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg777Gly Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg785Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg785Trp Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asp142Asn Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asp276Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp622Glu Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asp702Gly Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asp780Glu Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asp793Asn Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Cys289Ser Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gln132_Ala141del Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • p.Gln132_Ala141dup Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Gln496Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln552His Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Glu458Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu522Gln Single submitter Inborn genetic diseases
  • p.Glu681Lys Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gly189Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly291Ser Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gly491Ser Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gly532Arg Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures ⚠
  • p.Gly576Ala Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.His598Tyr Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.His697Tyr Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Leu776Pro Single submitter BRAT1-related disorder ⚠
  • p.Leu779fs Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • p.Leu79Pro Single submitter Inborn genetic diseases ⚠
  • p.Lys797fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Met295Val Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures ⚠
  • p.Pro134Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro495Leu Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Pro503Ser Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ser258= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ser404Leu Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures ⚠
  • p.Ser519Pro Single submitter Inborn genetic diseases ⚠
  • p.Thr394Ala Single submitter Inborn genetic diseases ⚠
  • p.Thr435Met Single submitter Inborn genetic diseases ⚠
  • p.Thr474Met Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Thr787Met Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Val202Ile Single submitter Inborn genetic diseases ⚠
  • p.Val319Ile Single submitter Inborn genetic diseases ⚠
  • p.Val423Leu Single submitter Inborn genetic diseases ⚠
  • p.Val602Ile Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Val677Met Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠

Benign 40

Benign/Likely benign 33

  • c.1134+14G>A Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.1135-8C>A Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.127+15C>G Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.128-10A>G Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.1322-12C>T Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.1598-20G>A Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.1770+13A>G Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.282+9G>A Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.803+11C>T Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.-7C>T Multiple submitters
  • p.Ala563= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala750= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg138His Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg621Gln Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Asp402= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Glu796= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Gly144Asp Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Gly189Val Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Gly576Ser Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Gly623Ser Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu321Arg Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu527= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu553= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu723= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Phe225= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Pro187Arg Multiple submitters Inborn genetic diseases
  • p.Pro254= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Ser275= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Thr233= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Thr331= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Thr435= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Val411= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Val56Met Multiple submitters neonatal-onset encephalopathy with rigidity and seizures

Likely benign 509

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

  • c.1016-135G>A Multiple submitters
  • c.1016-9G>C Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.1134+13C>T Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.1134+18C>T Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.1135-18C>T Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.1321+14G>C Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.1395+119G>T Multiple submitters
  • c.1395+4C>T Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.1396-11A>G Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.1396-120C>G Multiple submitters
  • c.1396-206G>C Multiple submitters
  • c.1498+10C>G Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.1499-20C>G Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.1597+36C>T Multiple submitters
  • c.1598-57C>T Multiple submitters
  • c.1771-7C>T Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.282+139G>A Multiple submitters
  • c.282+141A>C Multiple submitters
  • c.431-6A>C Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.924-15C>T Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.924-236C>T Multiple submitters
  • c.924-38_924-13del Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.-16-66G>A Multiple submitters
  • c.*10G>C Multiple submitters
  • c.*219C>A Multiple submitters neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • p.Ala115= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala540= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala568= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala611= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala641Val Multiple submitters Inborn genetic diseases
  • p.Ala683= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala716= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala757= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala789= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala818= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg243His Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Asn219= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Asp190= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Asp647= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Asp816= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Cys401= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Cys5= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Cys696= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Cys711= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Gly110Ser Multiple submitters Inborn genetic diseases
  • p.Gly363= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.His697= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.His794= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu158= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu303= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu48= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu597= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu802= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Lys304Gln Multiple submitters Inborn genetic diseases
  • p.Lys468= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Phe259= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Phe593= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Pro192= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Pro382= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Pro384= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Pro386= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Pro485= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Pro668= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Pro669Leu Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Pro753= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Ser121Arg Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ser156= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Ser519= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Ser742= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Ser792= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Thr118= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Thr223= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Thr344= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Thr689= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Thr787= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Tyr733= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Val171Leu Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Val39= Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Val56Leu Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.1015+14A>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1015+18G>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1015+19G>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1015+20C>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1015+27G>T Single submitter
  • c.1015+70A>G Single submitter
  • c.1015+7T>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1015+9C>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1015+9C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1016-11T>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1016-13G>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1016-14G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1016-14G>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1016-14G>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1016-16C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1016-20C>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1016-5C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1134+12C>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1134+15G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1134+17C>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1134+71C>T Single submitter
  • c.1134+8C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1134+9G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1135-12T>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1135-14C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1135-17G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1135-21_1135-15del Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1135-7del Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1135-8C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.127+20G>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.127+235C>T Single submitter
  • c.127+246C>T Single submitter
  • c.127+9G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.128-11_128-10inv Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.128-19G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.128-276_128-275del Single submitter
  • c.128-4A>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.128-4A>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.128-7C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1321+12C>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1321+17C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1321+20C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1321+7G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1321+8T>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1322-18C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1322-19C>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1322-9C>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1395+15A>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1395+16T>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1395+17A>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1395+17dup Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1395+18G>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1395+9G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1396-12T>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1396-13C>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1396-14C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1396-17C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1396-18C>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1396-5T>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1396-7G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1498+10C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1498+13C>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1498+19G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1498+20G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1498+20G>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1498+8A>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1498+9G>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1499-13C>T Single submitter
  • c.1499-18T>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1499-6C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1597+20G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1597+9T>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1598-10C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1598-11T>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1598-14G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1598-15C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1598-4C>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1598-5C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1598-8A>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1598-9G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1598-9G>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1770+16T>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1770+57G>A Single submitter
  • c.1770+7G>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1770+8del Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1771-10T>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1771-12C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1771-142C>T Single submitter
  • c.1771-15C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1771-6C>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1771-7C>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.282+10G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.282+11G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.282+12G>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.282+13C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.282+8T>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.283-14T>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.283-16dup Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.283-17_283-15del Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.283-18T>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.283-20C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.283-232G>A Single submitter
  • c.283-239G>A Single submitter
  • c.283-4_283-3dup Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.283-75G>A Single submitter
  • c.283-8C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.430+10C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.430+11C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.430+12C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.430+15A>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.430+19C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.430+8C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.430+9G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.430+9G>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.431-10_431-8del Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.431-104T>C Single submitter
  • c.431-18C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.431-200G>T Single submitter
  • c.431-5C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.803+10C>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.803+125G>A Single submitter
  • c.803+12G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.803+16C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.803+17G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.803+18C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.803+19A>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.803+20G>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.803+7G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.804-12G>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.804-13G>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.804-16T>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.804-17C>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.804-18T>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.804-19C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.804-20T>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.804-4G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.804-4G>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.804-5T>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.804-8C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.923+12G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.923+16C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.923+6G>T Single submitter
  • c.924-12G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.924-20C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.924-8G>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.-16-268T>G Single submitter
  • c.-16-289C>G Single submitter
  • c.*14C>T Single submitter
  • p.Ala11= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala141= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala145= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala163= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala180= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala195= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala209= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala235= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala255= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala256= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala284= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala286= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala316= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala330= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala362= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala370= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala388= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala406= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala408= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala408Thr Single submitter
  • p.Ala420= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala449= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala470= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala520= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala550= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala586= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala588= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala625= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala627= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala628= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala636= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala642= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala658= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala676= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala694= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala707= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala746= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala748= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala761= Single submitter
  • p.Ala771= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala84= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg128= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg177= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg20= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg227= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg239= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg243= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg250= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg313= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg381= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg399= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg424= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg589= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg644= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg651= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg727= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg737= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg754= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg756Trp Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg785= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Asp251= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Asp26= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Asp342= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Asp346= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Asp489= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Asp518= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Asp622= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Asp626= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Asp626Asn Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asp630= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Asp702= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Asp721= Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Asp728= Single submitter neonatal-onset encephalopathy with rigidity and seizures

Uncertain significance 516

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

  • c.1134+3A>G Multiple submitters Inborn genetic diseases
  • c.1321+4_1321+7del Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • c.1498+4A>G Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala163Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala180Thr Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala209Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala217Thr Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala245Val Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala255Thr Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala256Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala284Val Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala330Asn Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala345Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala388Val Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala393Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala408Val Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala449Val Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala451Ser Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala451Thr Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala563Val Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala568Thr Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala579Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala611Val Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala625Thr Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala627Thr Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala652Thr Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala658Thr Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala818Val Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg128Cys Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg128His Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg20Lys Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg227His Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg268Cys Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg285Trp Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg367Cys Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg367His Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg424Gln Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg508Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg508His Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg589Trp Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg610Gln Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg78Cys Multiple submitters neurodevelopmental disorder with cerebellar atrophy and with or without seizures ⚠
  • p.Asp147Asn Multiple submitters ⚠
  • p.Asp18Gly Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asp261His Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asp2Asn Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asp347Asn Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asp647Tyr Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asp766Asn Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asp766Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Asp819Asn Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Cys13Ser Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gln438Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Gln506Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Glu41Asp Multiple submitters Inborn genetic diseases ⚠
  • p.Glu522Lys Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Glu817Lys Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gly107Arg Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Gly122Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly126Asp Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gly182Glu Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gly226Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly301Glu Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gly343Arg Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gly363Ser Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gly403Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly413Asp Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gly42Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly461Ser Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gly491Ala Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gly606Val Multiple submitters Inborn genetic diseases
  • p.His307Pro Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.His371Tyr Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.His578Tyr Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ile494Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Ile599Val Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Leu12Val Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Leu130Pro Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Leu218Val Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Leu324Pro Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Leu354His Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Leu375Pro Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Leu400Val Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Leu433Val Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Leu453Phe Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu501dup Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Leu692Arg Multiple submitters Inborn genetic diseases
  • p.Leu724Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Leu73Phe Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Lys197del Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Lys213Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Lys329Asn Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Lys797Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Met176Val Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Met199_Asp200delinsIleTyr Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Phe159Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Phe83Leu Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Pro10Leu Multiple submitters Inborn genetic diseases
  • p.Pro10Ser Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Pro117Ser Multiple submitters neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • p.Pro192Leu Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Pro22Leu Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Pro231Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro338Ala Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Pro338Ser Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Pro377Gln Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Pro377Leu Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Pro377Ser Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Pro460Leu Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Pro460Ser Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Pro503Leu Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Pro547Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro583Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro668Leu Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Pro743Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro743His Multiple submitters neurodevelopmental disorder with cerebellar atrophy and with or without seizures ⚠
  • p.Pro753Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro764Ala Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Pro799Ser Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ser459Asn Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ser462Pro Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Thr148Ile Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Thr223Met Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Thr233Met Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Thr282Ser Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Thr331Met Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Thr344Met Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Thr349Met Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Thr350Met Multiple submitters Inborn genetic diseases ⚠
  • p.Thr38Met Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Thr418Asn Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Thr440Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Thr447Met Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Thr465Met Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Thr484Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Thr631Met Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Trp280Ser Multiple submitters neonatal-onset encephalopathy with rigidity and seizures
  • p.Trp35Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val116Ile Multiple submitters neurodevelopmental disorder with cerebellar atrophy and with or without seizures ⚠
  • p.Val119Met Multiple submitters Inborn genetic diseases
  • p.Val146Asp Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Val146Ile Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Val220Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val244Leu Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Val244Met Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Val271Met Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Val423Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val47Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val546Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val561Ala Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Val698Met Multiple submitters neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Val795Met Multiple submitters Inborn genetic diseases ⚠
  • c.1015+4T>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1015+6C>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1127_1134+11dup Single submitter Inborn genetic diseases
  • c.1134+6T>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.127+3A>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1395+5G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1395+68C>T Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • c.1396-10T>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1498+5C>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1498+5C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1499-3T>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1597+6_1597+7del Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • c.1770+12C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1770+6A>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1771-23C>T Single submitter BRAT1-related disorder
  • c.1771-32C>T Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures
  • c.1771-3C>G Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.1771-7_1777del Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.282+3G>A Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.430+6T>C Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.431-7_431-6insGGGTAGGG Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.803+3C>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.803+7G>T Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • c.923+3dup Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala112Thr Single submitter ⚠
  • p.Ala11Asp Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala145Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala163Glu Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala163Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala173Val Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala209Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala210Asp Single submitter Inborn genetic diseases ⚠
  • p.Ala210Val Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala217Val Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala255Val Single submitter ⚠
  • p.Ala256Thr Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala330Asp Single submitter Inborn genetic diseases
  • p.Ala330Pro Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala330Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala334Val Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala345_Thr350del Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Ala356Val Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala362Thr Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala362Val Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala420Val Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala449Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala451Pro Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala520Thr Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala676Gly Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala676Val Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala6Ser Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala6Thr Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala704Thr Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala746Pro Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala748Thr Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala757Thr Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Ala771Ser Single submitter ⚠
  • p.Ala84Thr Single submitter ⚠
  • p.Ala84Val Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures ⚠
  • p.Arg120Cys Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg138Cys Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg177Gln Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg177Pro Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg20Trp Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg239Trp Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg268Leu Single submitter ⚠
  • p.Arg285Pro Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg399Pro Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg427Pro Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg517Lys Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg538Ser Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg562Gln Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg609Gln Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg621Pro Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures ⚠
  • p.Arg621Trp Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg644Gly Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg644Trp Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Arg651His Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg670Leu Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg713Cys Single submitter
  • p.Arg713Gly Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg713His Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg740Thr Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg756Leu Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg777Ser Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Arg777Thr Single submitter ⚠
  • p.Asn744Ser Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asn88Asp Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asp200Tyr Single submitter Inborn genetic diseases ⚠
  • p.Asp342Val Single submitter Inborn genetic diseases ⚠
  • p.Asp347Gly Single submitter Inborn genetic diseases ⚠
  • p.Asp34Asn Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asp34Glu Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asp431Asn Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asp431Gly Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asp489Asn Single submitter Inborn genetic diseases ⚠
  • p.Asp489Val Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asp518Asn Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures ⚠
  • p.Asp645Asn Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Asp647Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp702Glu Single submitter ⚠
  • p.Asp710His Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asp728Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp728His Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Asp780His Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Asp816fs Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Cys13Tyr Single submitter Inborn genetic diseases ⚠
  • p.Cys228dup Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Cys228Tyr Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Cys246Ser Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Cys308Arg Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Cys308Ser Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Cys401Arg Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Cys416Trp Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Cys422Arg Single submitter Inborn genetic diseases ⚠
  • p.Cys456Tyr Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Cys487Tyr Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Cys510Arg Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Cys539Trp Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Cys673Tyr Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Cys696Phe Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Cys706Ser Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Cys711Tyr Single submitter
  • p.Cys820Tyr Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gln196Arg Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gln196Glu Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gln216His Single submitter Inborn genetic diseases
  • p.Gln310Leu Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gln322Arg Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gln438Glu Single submitter ⚠
  • p.Gln438His Single submitter ⚠
  • p.Gln448His Single submitter Inborn genetic diseases ⚠
  • p.Gln506Pro Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Gln552Arg Single submitter ⚠
  • p.Gln614Lys Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gln629Arg Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gln629Leu Single submitter neonatal-onset encephalopathy with rigidity and seizures
  • p.Gln633His Single submitter Inborn genetic diseases ⚠
  • p.Gln66Pro Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gln767His Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Gln814Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln94Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln95His Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Glu204Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu204Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu306Asp Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Glu306Lys Single submitter neonatal-onset encephalopathy with rigidity and seizures ⚠
  • p.Glu30Lys Single submitter neurodevelopmental disorder with cerebellar atrophy and with or without seizures ⚠