NBEA — 1083 ClinVar variants
All ClinVar germline NBEA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 371 flagged for review →
35 Pathogenic · 4 Pathogenic/Likely pathogenic · 48 Likely pathogenic · 25 Conflicting · 13 Benign · 12 Benign/Likely benign · 290 Likely benign · 656 Uncertain significance
Full NBEA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 371
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
NBEA p.Asp1298Glu
Likely pathogenic
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Arg2887Trp
Pathogenic
No assertion criteria
typical paroxysmal kinesigenic dyskinesia
Predictors agree, ClinVar conflicts 15
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NBEA p.Ala1257Val
Conflicting
Single submitter
Inborn genetic diseases
- NBEA p.Ala25Thr Conflicting Single submitter
-
NBEA p.Arg2848Cys
Conflicting
Single submitter
Inborn genetic diseases
-
NBEA p.Asn234Ser
Conflicting
Single submitter
Inborn genetic diseases
-
NBEA p.Cys1760Tyr
Conflicting
Single submitter
Inborn genetic diseases
-
NBEA p.Gly2763Arg
Conflicting
Single submitter
neurodevelopmental disorder
-
NBEA p.Ile1003Thr
Conflicting
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Ile1203Val
Conflicting
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
- NBEA p.Ile2347Val Conflicting Single submitter
-
NBEA p.Ile248Val
Conflicting
Single submitter
NBEA-related disorder
-
NBEA p.Lys975Arg
Conflicting
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Pro1770Ala
Conflicting
Single submitter
Inborn genetic diseases
-
NBEA p.Ser1114Thr
Conflicting
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
- NBEA p.Thr1812Asn Conflicting Single submitter
-
NBEA p.Val1252Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 282
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 282
-
NBEA p.Arg2291Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NBEA p.Arg264His Uncertain significance Multiple submitters
-
NBEA p.Asn1141Asp
Uncertain significance
Multiple submitters
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Asn1599Ser
Uncertain significance
Multiple submitters
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Gln2141Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NBEA p.Glu1091Ala
Uncertain significance
Multiple submitters
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Gly1084Arg
Uncertain significance
Multiple submitters
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Gly39Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NBEA p.Gly41Ala
Uncertain significance
Multiple submitters
NBEA-related disorder
-
NBEA p.Ile1670Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NBEA p.Ile678Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NBEA p.Lys1209Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NBEA p.Lys2248Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NBEA p.Met1312Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NBEA p.Pro2242Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NBEA p.Ser760Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NBEA p.Thr992Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NBEA p.Ala1103Ser Uncertain significance Single submitter
-
NBEA p.Ala1133Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Ala1646Thr
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Ala1683Val
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Ala1689Glu Uncertain significance Single submitter
- NBEA p.Ala1753Ser Uncertain significance Single submitter
-
NBEA p.Ala1753Thr
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
- NBEA p.Ala1810Asp Uncertain significance Single submitter
- NBEA p.Ala1813Pro Uncertain significance Single submitter
-
NBEA p.Ala2056Thr
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
- NBEA p.Ala2091Thr Uncertain significance Single submitter
- NBEA p.Ala2093Thr Uncertain significance Single submitter
- NBEA p.Ala2097Asp Uncertain significance Single submitter
- NBEA p.Ala2098Glu Uncertain significance Single submitter
- NBEA p.Ala21Thr Uncertain significance Single submitter
-
NBEA p.Ala2418Thr
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Ala2514Val
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
- NBEA p.Ala2748Ser Uncertain significance Single submitter
-
NBEA p.Ala379Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Ala48Thr Uncertain significance Single submitter
-
NBEA p.Ala525Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Ala525Thr Uncertain significance Single submitter
- NBEA p.Ala529Ser Uncertain significance Single submitter
- NBEA p.Ala58Thr Uncertain significance Single submitter
- NBEA p.Ala75Ser Uncertain significance Single submitter
- NBEA p.Ala849Pro Uncertain significance Single submitter
- NBEA p.Arg1266Lys Uncertain significance Single submitter
- NBEA p.Arg1299Gly Uncertain significance Single submitter
-
NBEA p.Arg1308Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Arg1317Gln Uncertain significance Single submitter
-
NBEA p.Arg1469Gln
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Arg1552Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Arg1580His Uncertain significance Single submitter
-
NBEA p.Arg1601Lys
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
- NBEA p.Arg2584Gln Uncertain significance Single submitter
- NBEA p.Arg2657Lys Uncertain significance Single submitter
- NBEA p.Arg2687Trp Uncertain significance Single submitter
-
NBEA p.Arg2887Gln
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Arg46Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Arg512Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Asn1086Ser Uncertain significance Single submitter
- NBEA p.Asn1109Lys Uncertain significance Single submitter
- NBEA p.Asn1121Ser Uncertain significance Single submitter
- NBEA p.Asn1141His Uncertain significance Single submitter
- NBEA p.Asn1523Ser Uncertain significance Single submitter
- NBEA p.Asn1687Ser Uncertain significance Single submitter
- NBEA p.Asn1824Ser Uncertain significance Single submitter
-
NBEA p.Asn1824Thr
Uncertain significance
Single submitter
NBEA-related disorder
- NBEA p.Asn1858Ser Uncertain significance Single submitter
- NBEA p.Asn1881Ser Uncertain significance Single submitter
- NBEA p.Asn2084His Uncertain significance Single submitter
-
NBEA p.Asn2326Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Asn2904Ser
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Asn515Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Asn878Ser Uncertain significance Single submitter
-
NBEA p.Asp1215Tyr
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
- NBEA p.Asp1269Val Uncertain significance Single submitter
- NBEA p.Asp1391Val Uncertain significance Single submitter
-
NBEA p.Asp1443Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Asp2185Gly
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Asp2333Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Asp2342His Uncertain significance Single submitter
-
NBEA p.Asp2368Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Asp2464Val
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Asp2499Asn Uncertain significance Single submitter
- NBEA p.Asp2675Val Uncertain significance Single submitter
-
NBEA p.Cys2913Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Gln1296Leu Uncertain significance Single submitter
- NBEA p.Gln1297Arg Uncertain significance Single submitter
- NBEA p.Gln1559Arg Uncertain significance Single submitter
- NBEA p.Gln1665Arg Uncertain significance Single submitter
- NBEA p.Gln2244Glu Uncertain significance Single submitter
-
NBEA p.Gln2879His
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Gln573Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Gln910Glu Uncertain significance Single submitter
-
NBEA p.Glu1093Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Glu1093Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Glu1204Gly Uncertain significance Single submitter
- NBEA p.Glu1207Gly Uncertain significance Single submitter
-
NBEA p.Glu13Ala
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
- NBEA p.Glu1724Asp Uncertain significance Single submitter
- NBEA p.Glu2330Gln Uncertain significance Single submitter
-
NBEA p.Glu2842Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Gly1045Val
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
- NBEA p.Gly1083Cys Uncertain significance Single submitter
- NBEA p.Gly1083Val Uncertain significance Single submitter
- NBEA p.Gly1116Asp Uncertain significance Single submitter
-
NBEA p.Gly1192Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Gly1258Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Gly1661Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Gly1661Ser Uncertain significance Single submitter
- NBEA p.Gly1801Val Uncertain significance Single submitter
- NBEA p.Gly2655Cys Uncertain significance Single submitter
- NBEA p.Gly2874Arg Uncertain significance Single submitter
- NBEA p.Gly2901Arg Uncertain significance Single submitter
- NBEA p.Gly29Ala Uncertain significance Single submitter
-
NBEA p.Gly30Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Gly36Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Gly39Cys Uncertain significance Single submitter
-
NBEA p.Gly409Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Gly41Glu Uncertain significance Single submitter
-
NBEA p.Gly47Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Gly52Cys Uncertain significance Single submitter
- NBEA p.Gly746Glu Uncertain significance Single submitter
- NBEA p.Gly7Asp Uncertain significance Single submitter
- NBEA p.Gly7Val Uncertain significance Single submitter
- NBEA p.Gly9Cys Uncertain significance Single submitter
-
NBEA p.His1112Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.His1340Arg Uncertain significance Single submitter
-
NBEA p.His1619Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.His2059Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.His2063Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.His801Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Ile1167Leu Uncertain significance Single submitter
-
NBEA p.Ile1171Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Ile1277Met
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Ile1631Met Uncertain significance Single submitter
- NBEA p.Ile1652Thr Uncertain significance Single submitter
-
NBEA p.Ile1765Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Ile20Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Ile2145Thr Uncertain significance Single submitter
-
NBEA p.Ile2192Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Ile2501Thr
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Ile2633Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Ile2920Met
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Ile330Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Ile484Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Ile554Val
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
- NBEA p.Ile67Val Uncertain significance Single submitter
- NBEA p.Ile706Leu Uncertain significance Single submitter
- NBEA p.Ile750Val Uncertain significance Single submitter
-
NBEA p.Ile78Met
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Ile919Val Uncertain significance Single submitter
Predictors split 72
The independent predictors disagree with each other — read with care.
-
NBEA p.Asp701Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NBEA p.Glu971Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NBEA p.Ile2498Met
Uncertain significance
Multiple submitters
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Phe1307Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NBEA p.Thr2572Met Likely benign Multiple submitters
- NBEA p.Ala1061Thr Uncertain significance Single submitter
- NBEA p.Ala1061Val Uncertain significance Single submitter
-
NBEA p.Ala2274Val
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Ala2811Val Uncertain significance Single submitter
- NBEA p.Arg1318Gly Uncertain significance Single submitter
- NBEA p.Arg1318Ser Uncertain significance Single submitter
- NBEA p.Arg2015Gly Uncertain significance Single submitter
-
NBEA p.Arg2083His
Conflicting
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
- NBEA p.Arg2361His Uncertain significance Single submitter
- NBEA p.Arg884Lys Uncertain significance Single submitter
-
NBEA p.Asn2897Lys
Uncertain significance
Single submitter
NBEA-related disorder
- NBEA p.Asp2757Gly Uncertain significance Single submitter
-
NBEA p.Gln2565Arg
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Gln690His
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
- NBEA p.Glu1710Lys Conflicting Single submitter
-
NBEA p.Glu2017Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Glu732Asp Uncertain significance Single submitter
- NBEA p.Glu85Lys Uncertain significance Single submitter
- NBEA p.Gly23Trp Uncertain significance Single submitter
-
NBEA p.Gly548Ala
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Ile1395Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Ile1952Val
Likely pathogenic
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
- NBEA p.Ile2046Val Uncertain significance Single submitter
- NBEA p.Ile2941Phe Uncertain significance Single submitter
-
NBEA p.Ile928Met
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Leu1347Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Leu1445Ile
Likely benign
Single submitter
Inborn genetic diseases
- NBEA p.Leu1899Phe Uncertain significance Single submitter
- NBEA p.Leu2075Phe Uncertain significance Single submitter
-
NBEA p.Leu216Phe
Uncertain significance
Single submitter
NBEA-related disorder
- NBEA p.Leu614Phe Uncertain significance Single submitter
- NBEA p.Lys146Arg Uncertain significance Single submitter
- NBEA p.Lys1834Glu Uncertain significance Single submitter
-
NBEA p.Lys2040Glu
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Lys2601Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Lys774Asn Uncertain significance Single submitter
- NBEA p.Lys975Thr Uncertain significance Single submitter
- NBEA p.Met1339Ile Likely pathogenic Single submitter
- NBEA p.Met1468Val Uncertain significance Single submitter
-
NBEA p.Met1930Val
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Met201Ile Uncertain significance Single submitter
-
NBEA p.Phe2569Ser
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
- NBEA p.Phe2718Leu Uncertain significance Single submitter
- NBEA p.Phe574Leu Uncertain significance Single submitter
-
NBEA p.Pro1128Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Pro2791Leu Uncertain significance Single submitter
- NBEA p.Pro2922Ala Likely benign Single submitter
-
NBEA p.Pro399Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Ser1014Asn Uncertain significance Single submitter
- NBEA p.Ser1790Asn Uncertain significance Single submitter
-
NBEA p.Ser2775Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Ser2808Pro
Likely pathogenic
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
- NBEA p.Ser2851Pro Uncertain significance Single submitter
- NBEA p.Ser877Arg Uncertain significance Single submitter
- NBEA p.Ser87Ile Uncertain significance Single submitter
- NBEA p.Thr1327Ala Uncertain significance Single submitter
- NBEA p.Thr2396Ala Uncertain significance Single submitter
- NBEA p.Thr261Ser Uncertain significance Single submitter
- NBEA p.Tyr2375Phe Uncertain significance Single submitter
-
NBEA p.Tyr2523Phe
Uncertain significance
Single submitter
neurodevelopmental disorder with or without early-onset generalized epilepsy
-
NBEA p.Val1064Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- NBEA p.Val1567Ile Uncertain significance Single submitter
- NBEA p.Val1743Met Uncertain significance Single submitter
-
NBEA p.Val1928Ile
Conflicting
Single submitter
Inborn genetic diseases
-
NBEA p.Val637Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Val727Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NBEA p.Ser1705Pro
Uncertain significance
No assertion criteria
NBEA-related disorder
All NBEA variants
Pathogenic 35
- p.Arg1493fs Multiple submitters Inborn genetic diseases
- p.Arg2866Ter Multiple submitters neurodevelopmental disorder with or without early-onset generalized epilepsy
- c.2652-1G>C Single submitter
- c.4424-1G>C Single submitter
- c.4662+1G>C Single submitter Neurodevelopmental delay
- c.526+1G>T Single submitter
- c.5648+1G>A Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- c.5649-1G>A Single submitter
- c.5904-2A>G Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- c.6807-2A>G Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- c.8661+1G>A Single submitter
- c.972+1G>T Single submitter
- p.Ala213_Val214insTer Single submitter
- p.Arg1317Ter Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Arg2277Ter Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Asp1269fs Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Asp1304fs Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Gln513Ter Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Gln910Ter Single submitter
- p.Gln968Ter Single submitter Inborn genetic diseases
- p.His2589fs Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Leu371fs Single submitter
- p.Leu886Ter Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Phe2189fs Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Ser1736fs Single submitter autism spectrum disorder
- p.Ser467Ter Single submitter
- p.Trp2497Ter Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Tyr2252_Ser2253delinsTer Single submitter Inborn genetic diseases
- p.Tyr345Ter Single submitter intellectual disability
- p.Arg2887Trp No assertion criteria typical paroxysmal kinesigenic dyskinesia ⚠
- p.Arg336Ter No assertion criteria neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Glu2105Ter No assertion criteria neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Glu2822Lys No assertion criteria neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Pro1332Ser No assertion criteria neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Ser1046fs No assertion criteria
Pathogenic/Likely pathogenic 4
- p.Arg1299Ter Multiple submitters Inborn genetic diseases
- p.Arg145Ter Multiple submitters NBEA-related disorder
- p.Arg2213Ter Multiple submitters
- p.Arg696Ter Multiple submitters NBEA-related disorder
Likely pathogenic 48
- p.Asn1121fs Multiple submitters neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Asp319Tyr Multiple submitters NBEA-related complex neurodevelopmental disorder
- c.2651+1G>A Single submitter NBEA-related disorder
- c.2845-1G>A Single submitter NBEA-related disorder
- c.4080-2A>C Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- c.4242+2T>A Single submitter
- c.4662+2dup Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- c.526+3A>G Single submitter Inborn genetic diseases
- c.5366+1G>A Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- c.5367-2A>T Single submitter
- c.6012+2T>C Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- c.6013-1G>A Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- c.6304+5G>T Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- c.7035+2T>C Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- c.7176+1G>A Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- c.7616_7617+1del Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Arg1001Ter Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Arg1302Ter Single submitter NBEA-related disorder
- p.Arg1991fs Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Arg2031Ter Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Arg2507Ter Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Arg2749fs Single submitter NBEA-related disorder
- p.Asp1298Glu Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Cys2591fs Single submitter
- p.Gln2575Ter Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Gln542Ter Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Glu1245Ter Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Glu860Ter Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Gly1113fs Single submitter
- p.Gly1919Ter Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Gly1967Arg Single submitter NBEA-related developmental delay and generalized epilepsy
- p.Gly39fs Single submitter NBEA-related disorder
- p.His926fs Single submitter NBEA-related disorder
- p.His946Tyr Single submitter
- p.Ile1952Val Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Met1339Ile Single submitter ⚠
- p.Pro247Ser Single submitter
- p.Ser1572Ter Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Ser2172fs Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Ser2808Pro Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Thr2235_Ser2236insTer Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Trp137Ter Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Trp2719Ter Single submitter
- p.Trp2774Ter Single submitter intellectual disability
- p.Val807fs Single submitter NBEA-related disorder
- p.Asn1495fs No assertion criteria neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Glu1680Ter No assertion criteria
- p.Lys579Glu No assertion criteria
Conflicting classifications of pathogenicity 25
- c.7176+3_7176+6del Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Ala1257Val Single submitter Inborn genetic diseases ⚠
- p.Ala25Thr Single submitter ⚠
- p.Arg2083His Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Arg2643Gln Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Arg2848Cys Single submitter Inborn genetic diseases ⚠
- p.Asn1544Ser Single submitter complex neurodevelopmental disorder
- p.Asn234Ser Single submitter Inborn genetic diseases ⚠
- p.Asp1183Gly Single submitter Inborn genetic diseases
- p.Cys1760Tyr Single submitter Inborn genetic diseases ⚠
- p.Glu1710Lys Single submitter ⚠
- p.Gly2763Arg Single submitter neurodevelopmental disorder ⚠
- p.His2059= Single submitter
- p.Ile1003Thr Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Ile1203Val Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Ile2347Val Single submitter ⚠
- p.Ile248Val Single submitter NBEA-related disorder ⚠
- p.Ile873Thr Single submitter Inborn genetic diseases
- p.Lys975Arg Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Met1389Val Single submitter
- p.Pro1770Ala Single submitter Inborn genetic diseases ⚠
- p.Ser1114Thr Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Thr1812Asn Single submitter ⚠
- p.Val1252Ile Single submitter Inborn genetic diseases ⚠
- p.Val1928Ile Single submitter Inborn genetic diseases ⚠
Benign 13
- c.7771-9A>G Multiple submitters
- c.7964-13T>C Multiple submitters
- p.Ala1778Thr Multiple submitters
- p.Arg1317= Multiple submitters
- p.Arg1980= Multiple submitters
- p.Asp2783= Multiple submitters
- p.Gln1777His Multiple submitters
- p.Ile2501Val Multiple submitters
- c.8464+8G>C Single submitter
- p.Arg512= Single submitter
- p.Leu2890= Single submitter
- p.Ser1077= Single submitter
- p.Ser1502Gly Single submitter
Benign/Likely benign 12
- c.6449-7C>G Multiple submitters
- c.8662-8T>C Multiple submitters
- p.Glu1995= Multiple submitters neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Glu395Asp Multiple submitters
- p.His2589= Multiple submitters
- p.Leu1081Ile Multiple submitters
- p.Leu2343= Multiple submitters
- p.Leu2598= Multiple submitters
- p.Ser1694Asn Multiple submitters neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Ser2618= Multiple submitters
- p.Val2417Ile Multiple submitters
- p.Val2805Phe Multiple submitters neurodevelopmental disorder with or without early-onset generalized epilepsy
Likely benign 290
- c.5521+6G>A Multiple submitters
- c.5777-12T>C Multiple submitters
- c.-3C>G Multiple submitters
- p.Ala1872= Multiple submitters
- p.Ala24Thr Multiple submitters
- p.Arg1001Gln Multiple submitters Inborn genetic diseases
- p.Arg1278Gln Multiple submitters
- p.Arg1292Gln Multiple submitters Inborn genetic diseases
- p.Arg2584= Multiple submitters
- p.Arg2848His Multiple submitters Inborn genetic diseases
- p.Asn1381= Multiple submitters
- p.Asn1824= Multiple submitters
- p.Asn2296= Multiple submitters
- p.Asn2883Ser Multiple submitters Inborn genetic diseases
- p.Asp364= Multiple submitters
- p.Gln1172= Multiple submitters
- p.Glu2201= Multiple submitters
- p.Gly1270Ser Multiple submitters Inborn genetic diseases
- p.Gly2943= Multiple submitters
- p.Gly34_Gly41del Multiple submitters
- p.His2063Arg Multiple submitters Inborn genetic diseases
- p.His2702= Multiple submitters
- p.Ile1614Met Multiple submitters Inborn genetic diseases
- p.Ile2099Thr Multiple submitters Inborn genetic diseases
- p.Leu1348= Multiple submitters
- p.Leu1404= Multiple submitters
- p.Leu1538= Multiple submitters
- p.Leu2593= Multiple submitters
- p.Leu56= Multiple submitters
- p.Lys1275Arg Multiple submitters Inborn genetic diseases
- p.Lys2050= Multiple submitters
- p.Met737Leu Multiple submitters Inborn genetic diseases
- p.Pro1078= Multiple submitters
- p.Pro1534Thr Multiple submitters
- p.Pro16= Multiple submitters
- p.Pro1798Leu Multiple submitters Inborn genetic diseases
- p.Pro1799= Multiple submitters
- p.Pro2372= Multiple submitters
- p.Pro399= Multiple submitters
- p.Ser1227= Multiple submitters
- p.Ser1802Cys Multiple submitters Inborn genetic diseases
- p.Ser1823Cys Multiple submitters
- p.Ser2854= Multiple submitters
- p.Ser40Gly Multiple submitters Inborn genetic diseases
- p.Thr141= Multiple submitters
- p.Thr1415Met Multiple submitters
- p.Thr1659Ala Multiple submitters
- p.Thr2385= Multiple submitters
- p.Thr2572Met Multiple submitters ⚠
- p.Val1666Ile Multiple submitters Inborn genetic diseases
- p.Val2465Ala Multiple submitters Inborn genetic diseases
- c.1092+15T>C Single submitter
- c.1240-16A>G Single submitter
- c.1437+11C>A Single submitter
- c.1438-13T>G Single submitter
- c.1438-6A>G Single submitter
- c.1571+13T>C Single submitter
- c.1572-19G>A Single submitter
- c.1834-16T>G Single submitter
- c.2002+16C>G Single submitter
- c.2145+10G>A Single submitter
- c.2146-6A>C Single submitter
- c.2336+7del Single submitter
- c.2446-19C>G Single submitter
- c.2446-4T>C Single submitter
- c.2844+7C>A Single submitter
- c.2845-5C>G Single submitter
- c.4423+18A>G Single submitter
- c.4554+11T>A Single submitter
- c.4554+17del Single submitter
- c.4554+19T>C Single submitter
- c.4555-4A>G Single submitter
- c.4662+9T>C Single submitter
- c.4832-13A>G Single submitter
- c.4928-14T>G Single submitter
- c.4928-7A>G Single submitter
- c.527-112G>T Single submitter
- c.5366+17T>C Single submitter
- c.5367-13C>T Single submitter
- c.5367-16C>T Single submitter
- c.5648+20A>G Single submitter
- c.5776+12C>T Single submitter
- c.5838+13A>G Single submitter
- c.5903+7A>G Single submitter
- c.5904-14A>G Single submitter
- c.6012+15G>A Single submitter
- c.6179+18C>T Single submitter
- c.6179+19G>A Single submitter
- c.6304+8C>T Single submitter
- c.6448+16T>C Single submitter
- c.6585+4342A>G Single submitter
- c.6586-11del Single submitter
- c.6806+20T>C Single submitter
- c.6922+13A>T Single submitter
- c.6922+7T>C Single submitter
- c.723+8T>C Single submitter
- c.7296+19T>C Single submitter
- c.7297-8C>A Single submitter
- c.7449+12T>C Single submitter
- c.7618-10C>T Single submitter
- c.7618-1G>T Single submitter
- c.8036-15T>C Single submitter
- c.8036-17T>C Single submitter
- c.8192-15A>G Single submitter
- c.8362+11G>A Single submitter
- c.8464+12T>C Single submitter
- c.8661+11A>G Single submitter
- c.8661+17C>T Single submitter
- c.8661+18G>A Single submitter
- c.8813+9C>T Single submitter
- c.973-11T>A Single submitter
- c.973-8dup Single submitter
- c.-12G>A Single submitter
- p.Ala1088= Single submitter
- p.Ala1226= Single submitter
- p.Ala1257= Single submitter
- p.Ala1804= Single submitter
- p.Ala1842= Single submitter
- p.Ala21= Single submitter
- p.Ala2136= Single submitter
- p.Ala2136Val Single submitter Inborn genetic diseases
- p.Ala2198= Single submitter
- p.Ala2837= Single submitter
- p.Ala440= Single submitter
- p.Ala483= Single submitter
- p.Ala735= Single submitter
- p.Arg1437= Single submitter
- p.Arg2078= Single submitter
- p.Arg2412= Single submitter
- p.Arg2777= Single submitter
- p.Arg2864Gln Single submitter Inborn genetic diseases
- p.Arg46= Single submitter
- p.Arg681= Single submitter
- p.Arg696Gln Single submitter Inborn genetic diseases
- p.Arg865His Single submitter Inborn genetic diseases
- p.Asn88Ser Single submitter
- p.Asn918Ser Single submitter Inborn genetic diseases
- p.Asp1017Asn Single submitter Inborn genetic diseases
- p.Asp1023Glu Single submitter Inborn genetic diseases
- p.Asp1540Tyr Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Asp1663Gly Single submitter
- p.Asp1698Gly Single submitter Inborn genetic diseases
- p.Asp2032Tyr Single submitter
- p.Asp2133= Single submitter
- p.Asp2193= Single submitter
- p.Asp2894= Single submitter
- p.Asp510Asn Single submitter
- p.Gln1296= Single submitter
- p.Gln2009= Single submitter
- p.Gln2061= Single submitter
- p.Gln321= Single submitter
- p.Glu1137Asp Single submitter Inborn genetic diseases
- p.Glu1588Ala Single submitter Inborn genetic diseases
- p.Glu1654= Single submitter
- p.Glu1710= Single submitter
- p.Glu1921= Single submitter
- p.Glu2328= Single submitter
- p.Gly1412= Single submitter
- p.Gly1637Ala Single submitter Inborn genetic diseases
- p.Gly2450= Single submitter
- p.Gly2508= Single submitter
- p.Gly2683= Single submitter
- p.Gly2823= Single submitter
- p.Gly34= Single submitter
- p.Gly583Ala Single submitter
- p.Gly583Ser Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Gly638= Single submitter
- p.Gly661= Single submitter
- p.Gly986= Single submitter
- p.His1672= Single submitter
- p.His227= Single submitter
- p.His2740= Single submitter
- p.His2935= Single submitter
- p.Ile2099Val Single submitter
- p.Ile2119Val Single submitter
- p.Ile2145Val Single submitter Inborn genetic diseases
- p.Ile2192Met Single submitter
- p.Ile2392= Single submitter
- p.Ile330= Single submitter
- p.Ile496= Single submitter
- p.Ile496Val Single submitter Inborn genetic diseases
- p.Ile604= Single submitter
- p.Ile902= Single submitter
- p.Ile928Val Single submitter Inborn genetic diseases
- p.Leu1071= Single submitter
- p.Leu1147= Single submitter
- p.Leu1196= Single submitter
- p.Leu12= Single submitter
- p.Leu1417= Single submitter
- p.Leu1445Ile Single submitter Inborn genetic diseases ⚠
- p.Leu159= Single submitter
- p.Leu2139Val Single submitter Inborn genetic diseases
- p.Leu2171Phe Single submitter
- p.Leu2714= Single submitter
- p.Leu2834= Single submitter
- p.Leu527= Single submitter
- p.Leu571Val Single submitter autism spectrum disorder
- p.Leu80= Single submitter
- p.Leu923= Single submitter
- p.Leu942= Single submitter
- p.Lys1106= Single submitter
- p.Lys463= Single submitter
- p.Met1339Val Single submitter
- p.Met2562Thr Single submitter
- p.Met862Leu Single submitter
- p.Phe2645= Single submitter
- p.Phe791= Single submitter
- p.Pro1012= Single submitter
- p.Pro1019Ser Single submitter Inborn genetic diseases
- p.Pro1332= Single submitter
- p.Pro1618= Single submitter
- p.Pro1754= Single submitter
- p.Pro2242= Single submitter
- p.Pro2321= Single submitter
- p.Pro2346= Single submitter
- p.Pro2371= Single submitter
- p.Pro247= Single submitter
- p.Pro2597= Single submitter
- p.Pro2619= Single submitter
- p.Pro2791= Single submitter
- p.Pro2922= Single submitter
- p.Pro2922Ala Single submitter ⚠
- p.Pro57= Single submitter
- p.Ser1011= Single submitter
- p.Ser1193= Single submitter
- p.Ser1249Arg Single submitter
- p.Ser1293= Single submitter
- p.Ser1498= Single submitter
- p.Ser1705Cys Single submitter Inborn genetic diseases
- p.Ser1709= Single submitter
- p.Ser2210= Single submitter
- p.Ser2236= Single submitter
- p.Ser2416= Single submitter
- p.Ser2424Ile Single submitter Developmental disorder
- p.Ser2531Gly Single submitter
- p.Ser2750= Single submitter
- p.Ser2808= Single submitter
- p.Ser53= Single submitter
- p.Ser53Trp Single submitter
- p.Ser64Leu Single submitter
- p.Thr1016= Single submitter
- p.Thr1191= Single submitter
- p.Thr1212= Single submitter
- p.Thr1285= Single submitter
- p.Thr1812Ala Single submitter Inborn genetic diseases
- p.Thr2103= Single submitter
- p.Thr2170Ser Single submitter Inborn genetic diseases
- p.Thr2555Ala Single submitter
- p.Thr2572= Single submitter
- p.Thr802= Single submitter
- p.Thr94= Single submitter
- p.Thr991Ala Single submitter
- p.Tyr1641= Single submitter
- p.Tyr2311= Single submitter
- p.Tyr2862= Single submitter
- p.Tyr345= Single submitter
- p.Tyr951= Single submitter
- p.Val1052= Single submitter
- p.Val1194Ile Single submitter Inborn genetic diseases
- p.Val1366= Single submitter
- p.Val148= Single submitter
- p.Val1507Leu Single submitter Inborn genetic diseases
- p.Val1791= Single submitter
- p.Val1997= Single submitter
- p.Val2137= Single submitter
- p.Val2196Ile Single submitter
- p.Val2446= Single submitter
- p.Val2737= Single submitter
- p.Val2761Met Single submitter Inborn genetic diseases
- p.Val637= Single submitter
- p.Val640= Single submitter
- p.Val722= Single submitter
- p.Val92= Single submitter
- p.Val949= Single submitter
- c.7297-6T>C No assertion criteria NBEA-related disorder
- p.Ala444= No assertion criteria NBEA-related disorder
- p.Asn2037= No assertion criteria NBEA-related disorder
- p.Glu2298= No assertion criteria NBEA-related disorder
- p.Gly1597= No assertion criteria NBEA-related disorder
- p.Gly47= No assertion criteria NBEA-related disorder
- p.Ile944= No assertion criteria NBEA-related disorder
- p.Phe1906= No assertion criteria NBEA-related disorder
- p.Pro2582= No assertion criteria NBEA-related disorder
- p.Ser1517= No assertion criteria NBEA-related disorder
- p.Ser1708= No assertion criteria NBEA-related disorder
- p.Thr1213Ala No assertion criteria NBEA-related disorder
- p.Thr1363= No assertion criteria NBEA-related disorder
- p.Thr1738= No assertion criteria NBEA-related disorder
- p.Thr1819Ala No assertion criteria NBEA-related disorder
- p.Val65= No assertion criteria NBEA-related disorder
Uncertain significance 656
Showing the top 300 by review status; the full set is in the sitemap.
- c.4242+5G>A Multiple submitters
- p.Ala603Val Multiple submitters neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Arg1325Gln Multiple submitters Inborn genetic diseases
- p.Arg2277Gln Multiple submitters Inborn genetic diseases
- p.Arg2291Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg264His Multiple submitters ⚠
- p.Asn1141Asp Multiple submitters neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Asn1599Ser Multiple submitters neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Asn69His Multiple submitters
- p.Asp2789Asn Multiple submitters neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Asp701Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln2141Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu1091Ala Multiple submitters neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Glu1995Lys Multiple submitters NBEA-related disorder
- p.Glu971Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly1084Arg Multiple submitters neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Gly39Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly41Ala Multiple submitters NBEA-related disorder ⚠
- p.His2409Asp Multiple submitters Inborn genetic diseases
- p.Ile1456Thr Multiple submitters Inborn genetic diseases
- p.Ile1670Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile2498Met Multiple submitters neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Ile678Met Multiple submitters Inborn genetic diseases ⚠
- p.Lys1209Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys2168Met Multiple submitters Inborn genetic diseases
- p.Lys2248Arg Multiple submitters Inborn genetic diseases ⚠
- p.Met1312Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe1307Leu Multiple submitters Inborn genetic diseases ⚠
- p.Phe2723Cys Multiple submitters neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Phe2723Val Multiple submitters
- p.Pro2242Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro57Arg Multiple submitters Inborn genetic diseases
- p.Ser576Tyr Multiple submitters Inborn genetic diseases
- p.Ser660Gly Multiple submitters
- p.Ser760Thr Multiple submitters Inborn genetic diseases ⚠
- p.Thr992Arg Multiple submitters Inborn genetic diseases ⚠
- c.1240-1G>C Single submitter
- c.1240-3C>G Single submitter
- c.1240-4dup Single submitter
- c.1680+3A>G Single submitter Inborn genetic diseases
- c.1680+5G>C Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- c.2002+2530C>T Single submitter
- c.2243+5G>A Single submitter
- c.3862-1G>C Single submitter Inborn genetic diseases
- c.4233+3A>G Single submitter
- c.4927+1G>C Single submitter
- c.4928-17A>G Single submitter
- c.5366+4G>A Single submitter
- c.5521+4T>G Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- c.5777-5T>G Single submitter
- c.6179+6_6179+7del Single submitter
- c.628-6C>G Single submitter Inborn genetic diseases
- c.6304+1460T>G Single submitter
- c.6704-2A>G Single submitter Inborn genetic diseases
- c.6807-10_6807-3del Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- c.723+5G>A Single submitter
- c.7449+1G>A Single submitter
- c.7450-10C>G Single submitter
- c.7963+1G>T Single submitter
- c.8035+3A>G Single submitter
- c.8036-1G>A Single submitter
- c.8662-1G>A Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- c.8813+3G>T Single submitter
- c.-19CTC[1] Single submitter
- c.-8G>T Single submitter
- p.Ala1061Thr Single submitter ⚠
- p.Ala1061Val Single submitter ⚠
- p.Ala1103Ser Single submitter ⚠
- p.Ala1133Thr Single submitter Inborn genetic diseases ⚠
- p.Ala1448Glu Single submitter
- p.Ala1564Val Single submitter NBEA-related intellectual disability
- p.Ala1646Thr Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Ala1683Val Single submitter Inborn genetic diseases ⚠
- p.Ala1689Glu Single submitter ⚠
- p.Ala1753Ser Single submitter ⚠
- p.Ala1753Thr Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Ala1810Asp Single submitter ⚠
- p.Ala1813Pro Single submitter ⚠
- p.Ala186Thr Single submitter
- p.Ala1872Val Single submitter
- p.Ala1907Thr Single submitter Inborn genetic diseases
- p.Ala1959Val Single submitter Inborn genetic diseases
- p.Ala2008Val Single submitter
- p.Ala2056Glu Single submitter Inborn genetic diseases
- p.Ala2056Thr Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Ala2091Thr Single submitter ⚠
- p.Ala2093Thr Single submitter ⚠
- p.Ala2097Asp Single submitter ⚠
- p.Ala2098Glu Single submitter ⚠
- p.Ala2136Glu Single submitter
- p.Ala21Thr Single submitter ⚠
- p.Ala2245Glu Single submitter Inborn genetic diseases
- p.Ala2274Val Single submitter Inborn genetic diseases ⚠
- p.Ala2418Thr Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Ala2514Ser Single submitter NBEA-related disorder
- p.Ala2514Val Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Ala2564Val Single submitter Inborn genetic diseases
- p.Ala2679Thr Single submitter
- p.Ala2708Thr Single submitter Inborn genetic diseases
- p.Ala2748Ser Single submitter ⚠
- p.Ala2811Val Single submitter ⚠
- p.Ala2926Val Single submitter
- p.Ala377Thr Single submitter Inborn genetic diseases
- p.Ala379Gly Single submitter Inborn genetic diseases ⚠
- p.Ala48Thr Single submitter ⚠
- p.Ala525Ser Single submitter Inborn genetic diseases ⚠
- p.Ala525Thr Single submitter ⚠
- p.Ala529Ser Single submitter ⚠
- p.Ala58Thr Single submitter ⚠
- p.Ala755Pro Single submitter
- p.Ala75Ser Single submitter ⚠
- p.Ala765Gly Single submitter
- p.Ala849Pro Single submitter ⚠
- p.Arg1266Lys Single submitter ⚠
- p.Arg1299Gly Single submitter ⚠
- p.Arg1308Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1317Gln Single submitter ⚠
- p.Arg1318Gly Single submitter ⚠
- p.Arg1318Ser Single submitter ⚠
- p.Arg1325= Single submitter
- p.Arg1342Gln Single submitter
- p.Arg1342Trp Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Arg1437Gln Single submitter Inborn genetic diseases
- p.Arg1469Gln Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Arg1469Ter Single submitter
- p.Arg1487Gln Single submitter
- p.Arg1487Trp Single submitter
- p.Arg1491Thr Single submitter Inborn genetic diseases
- p.Arg149Gln Single submitter Inborn genetic diseases
- p.Arg1545Cys Single submitter
- p.Arg1552Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1580His Single submitter ⚠
- p.Arg1601Lys Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Arg1900Cys Single submitter
- p.Arg1968Ser Single submitter
- p.Arg1980Cys Single submitter
- p.Arg2015Gly Single submitter ⚠
- p.Arg203Pro Single submitter
- p.Arg2079Ile Single submitter
- p.Arg2219His Single submitter
- p.Arg2256Gln Single submitter
- p.Arg2269Gly Single submitter
- p.Arg2361His Single submitter ⚠
- p.Arg2422Lys Single submitter Inborn genetic diseases
- p.Arg2513His Single submitter
- p.Arg2584Gln Single submitter ⚠
- p.Arg2657Lys Single submitter ⚠
- p.Arg2687Trp Single submitter ⚠
- p.Arg2711His Single submitter
- p.Arg2749Gly Single submitter
- p.Arg284Cys Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Arg2864= Single submitter
- p.Arg2887Gln Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Arg2958Trp Single submitter
- p.Arg323His Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Arg381Lys Single submitter
- p.Arg46Ser Single submitter Inborn genetic diseases ⚠
- p.Arg512Thr Single submitter Inborn genetic diseases ⚠
- p.Arg636Ser Single submitter
- p.Arg68Cys Single submitter
- p.Arg884Lys Single submitter ⚠
- p.Asn1086Ser Single submitter ⚠
- p.Asn1109Lys Single submitter ⚠
- p.Asn1121Ser Single submitter ⚠
- p.Asn1141His Single submitter ⚠
- p.Asn1482Ser Single submitter
- p.Asn1523Ser Single submitter ⚠
- p.Asn1687Ser Single submitter ⚠
- p.Asn1742Ser Single submitter
- p.Asn1824Lys Single submitter
- p.Asn1824Ser Single submitter ⚠
- p.Asn1824Thr Single submitter NBEA-related disorder ⚠
- p.Asn1858Ser Single submitter ⚠
- p.Asn1864_Leu1865del Single submitter
- p.Asn1881Ser Single submitter ⚠
- p.Asn2084His Single submitter ⚠
- p.Asn2326Thr Single submitter Inborn genetic diseases ⚠
- p.Asn2351Lys Single submitter
- p.Asn2401Asp Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Asn2786Lys Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Asn2897Lys Single submitter NBEA-related disorder ⚠
- p.Asn2904Ser Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Asn339Ser Single submitter
- p.Asn363Asp Single submitter
- p.Asn515Asp Single submitter Inborn genetic diseases ⚠
- p.Asn601Lys Single submitter Inborn genetic diseases
- p.Asn718Asp Single submitter
- p.Asn878Ser Single submitter ⚠
- p.Asn882Thr Single submitter
- p.Asp1058Ala Single submitter
- p.Asp1073Tyr Single submitter
- p.Asp1097Gly Single submitter Inborn genetic diseases
- p.Asp114Tyr Single submitter
- p.Asp1215Tyr Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Asp1263Gly Single submitter
- p.Asp1269Val Single submitter ⚠
- p.Asp1300Ala Single submitter
- p.Asp1391Val Single submitter ⚠
- p.Asp1443Glu Single submitter Inborn genetic diseases ⚠
- p.Asp180Gly Single submitter NBEA-related intellectual disability
- p.Asp2134Asn Single submitter
- p.Asp2185Gly Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Asp2193Asn Single submitter
- p.Asp2333Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp2342His Single submitter ⚠
- p.Asp2368Glu Single submitter Inborn genetic diseases ⚠
- p.Asp2464Val Single submitter Inborn genetic diseases ⚠
- p.Asp2476Asn Single submitter
- p.Asp2499Asn Single submitter ⚠
- p.Asp2675Val Single submitter ⚠
- p.Asp274Asn Single submitter
- p.Asp2757Gly Single submitter ⚠
- p.Asp2903Glu Single submitter
- p.Asp2955Gly Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Asp364Glu Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Asp716His Single submitter
- p.Cys120Ser Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Cys1483Ser Single submitter Inborn genetic diseases
- p.Cys2810Tyr Single submitter
- p.Cys2913Ser Single submitter Inborn genetic diseases ⚠
- p.Cys822Tyr Single submitter
- p.Gln1296Leu Single submitter ⚠
- p.Gln1297Arg Single submitter ⚠
- p.Gln1470Glu Single submitter
- p.Gln1559Arg Single submitter ⚠
- p.Gln1561Glu Single submitter
- p.Gln1665Arg Single submitter ⚠
- p.Gln2244Glu Single submitter ⚠
- p.Gln2565Arg Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Gln2605Arg Single submitter
- p.Gln2666Arg Single submitter
- p.Gln2879His Single submitter Inborn genetic diseases ⚠
- p.Gln2964His Single submitter
- p.Gln479Pro Single submitter
- p.Gln573Lys Single submitter Inborn genetic diseases ⚠
- p.Gln690His Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Gln743Arg Single submitter
- p.Gln910Glu Single submitter ⚠
- p.Glu103Val Single submitter
- p.Glu1093Asp Single submitter Inborn genetic diseases ⚠
- p.Glu1093Gln Single submitter Inborn genetic diseases ⚠
- p.Glu1204Gly Single submitter ⚠
- p.Glu1207Gly Single submitter ⚠
- p.Glu1333Gln Single submitter
- p.Glu13Ala Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Glu156Ala Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Glu1588Gly Single submitter
- p.Glu1643Lys Single submitter
- p.Glu1724Asp Single submitter ⚠
- p.Glu1947Lys Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Glu2002fs Single submitter Intellectual disability and seizures
- p.Glu2017Asp Single submitter Inborn genetic diseases ⚠
- p.Glu2330Gln Single submitter ⚠
- p.Glu2330Gly Single submitter
- p.Glu2360Lys Single submitter
- p.Glu2839Lys Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Glu2842Gly Single submitter Inborn genetic diseases ⚠
- p.Glu2855Lys Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Glu676Gly Single submitter
- p.Glu700Lys Single submitter
- p.Glu715= Single submitter
- p.Glu715Lys Single submitter
- p.Glu732Asp Single submitter ⚠
- p.Glu85Lys Single submitter ⚠
- p.Gly1045Val Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Gly1083Cys Single submitter ⚠
- p.Gly1083Val Single submitter ⚠
- p.Gly1116Asp Single submitter ⚠
- p.Gly1192Ser Single submitter Inborn genetic diseases ⚠
- p.Gly1258Arg Single submitter Inborn genetic diseases ⚠
- p.Gly1291Arg Single submitter
- p.Gly1661Asp Single submitter Inborn genetic diseases ⚠
- p.Gly1661Ser Single submitter ⚠
- p.Gly1696Val Single submitter Inborn genetic diseases
- p.Gly1740Val Single submitter Inborn genetic diseases
- p.Gly1801Val Single submitter ⚠
- p.Gly1919Ala Single submitter
- p.Gly204Glu Single submitter Inborn genetic diseases
- p.Gly2055Glu Single submitter
- p.Gly2150Val Single submitter
- p.Gly23Trp Single submitter ⚠
- p.Gly2450Arg Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Gly2655Cys Single submitter ⚠
- p.Gly2823Ser Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy
- p.Gly2874Arg Single submitter ⚠
- p.Gly2901Arg Single submitter ⚠
- p.Gly29Ala Single submitter ⚠
- p.Gly30Glu Single submitter Inborn genetic diseases ⚠
- p.Gly36Ser Single submitter Inborn genetic diseases ⚠
- p.Gly39Cys Single submitter ⚠
- p.Gly409Glu Single submitter Inborn genetic diseases ⚠
- p.Gly41Glu Single submitter ⚠
- p.Gly47Glu Single submitter Inborn genetic diseases ⚠
- p.Gly52Cys Single submitter ⚠
- p.Gly548Ala Single submitter neurodevelopmental disorder with or without early-onset generalized epilepsy ⚠
- p.Gly550Val Single submitter Inborn genetic diseases
- p.Gly669Val Single submitter
- p.Gly746Glu Single submitter ⚠
- p.Gly777Ala Single submitter Inborn genetic diseases
- p.Gly7Asp Single submitter ⚠