Sugi Variant

Sugi Variant/GRIN2B

GRIN2B — 1768 ClinVar variants

All ClinVar germline GRIN2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 646 flagged for review →

106 Pathogenic · 40 Pathogenic/Likely pathogenic · 131 Likely pathogenic · 133 Conflicting · 131 Benign · 58 Benign/Likely benign · 572 Likely benign · 597 Uncertain significance

Full GRIN2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 646

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 5

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

Predictors agree, ClinVar conflicts 93

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

Predicted LoF vs a conflicting call 3

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 418

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 418

Predictors split 127

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

All GRIN2B variants

Pathogenic 106

  • c.2172-2A>G Multiple submitters intellectual disability, autosomal dominant 6
  • p.Ala644Asp Multiple submitters intellectual disability, autosomal dominant 6
  • p.Arg519Ter Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Cys838Ter Multiple submitters intellectual disability, autosomal dominant 6
  • p.Gln656Ter Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Gln711Ter Multiple submitters intellectual disability, autosomal dominant 6
  • p.Gln812Ter Multiple submitters intellectual disability, autosomal dominant 6
  • p.Leu643Pro Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Ser541Arg Multiple submitters developmental and epileptic encephalopathy, 27 ⚠
  • p.Ser810Arg Multiple submitters intellectual disability, autosomal dominant 6
  • p.Trp559Ter Multiple submitters intellectual disability, autosomal dominant 6
  • c.1011-1G>C Single submitter intellectual disability, autosomal dominant 6
  • c.1328+1G>A Single submitter
  • c.1654+1G>A Single submitter
  • c.1780+2_1780+3delinsGT Single submitter
  • c.2010+1del Single submitter
  • c.2010+1G>A Single submitter
  • c.2011-1G>T Single submitter
  • c.2011-32_2014del Single submitter Inborn genetic diseases
  • c.2171+3A>G Single submitter intellectual disability
  • c.2352_2359+2dup Single submitter developmental and epileptic encephalopathy, 27
  • c.2360-2A>G Single submitter intellectual disability, autosomal dominant 6
  • c.411+1G>A Single submitter intellectual disability, autosomal dominant 6
  • c.411+1G>T Single submitter
  • p.Ala1318fs Single submitter
  • p.Ala509fs Single submitter intellectual disability, autosomal dominant 6
  • p.Ala652Pro Single submitter
  • p.Ala717Val Single submitter intellectual disability, autosomal dominant 6
  • p.Ala819Ser Single submitter
  • p.Ala827Glu Single submitter intellectual disability, autosomal dominant 6
  • p.Arg693fs Single submitter
  • p.Asn333fs Single submitter
  • p.Asp447fs Single submitter intellectual disability, autosomal dominant 6
  • p.Cys456Ter Single submitter
  • p.Cys461Tyr Single submitter intellectual disability, autosomal dominant 6
  • p.Cys801Tyr Single submitter intellectual disability, autosomal dominant 6
  • p.Cys854fs Single submitter intellectual disability, autosomal dominant 6
  • p.Gln152Ter Single submitter intellectual disability, autosomal dominant 6
  • p.Gln180Ter Single submitter intellectual disability, autosomal dominant 6
  • p.Gln217Ter Single submitter intellectual disability, autosomal dominant 6
  • p.Gln401Ter Single submitter intellectual disability, autosomal dominant 6
  • p.Gln782Ter Single submitter intellectual disability, autosomal dominant 6
  • p.Gln919Ter Single submitter intellectual disability, autosomal dominant 6
  • p.Glu1313fs Single submitter intellectual disability, autosomal dominant 6
  • p.Glu236Ter Single submitter complex neurodevelopmental disorder
  • p.Glu370Ter Single submitter Developmental disorder
  • p.Glu413Gly Single submitter intellectual disability, autosomal dominant 6
  • p.Glu449Ter Single submitter developmental and epileptic encephalopathy, 27
  • p.Glu500_Val501insProGlyMetValTer Single submitter intellectual disability, autosomal dominant 6
  • p.Glu790Ter Single submitter intellectual disability, autosomal dominant 6
  • p.Glu804Lys Single submitter developmental and epileptic encephalopathy, 27
  • p.Glu804Ter Single submitter
  • p.Gly129fs Single submitter intellectual disability, autosomal dominant 6
  • p.Gly543Glu Single submitter intellectual disability, autosomal dominant 6
  • p.Ile1056fs Single submitter intellectual disability, autosomal dominant 6
  • p.Ile150Ser Single submitter intellectual disability
  • p.Ile408Thr Single submitter intellectual disability, autosomal dominant 6
  • p.Ile418fs Single submitter intellectual disability
  • p.Ile751fs Single submitter Inborn genetic diseases
  • p.Ile82fs Single submitter Inborn genetic diseases
  • p.Leu203fs Single submitter intellectual disability, autosomal dominant 6
  • p.Leu480fs Single submitter Atypical behavior
  • p.Leu608Ter Single submitter complex neurodevelopmental disorder
  • p.Leu781Val Single submitter complex neurodevelopmental disorder
  • p.Lys1186fs Single submitter intellectual disability, autosomal dominant 6
  • p.Lys1280delinsGlyProAlaGlyCysProSerGlyGlyAspValLysArgLeuHisHisTer Single submitter intellectual disability, autosomal dominant 6
  • p.Lys221fs Single submitter intellectual disability, autosomal dominant 6
  • p.Lys458Ter Single submitter
  • p.Lys466Ter Single submitter
  • p.Lys488Met Single submitter intellectual disability, autosomal dominant 6
  • p.Lys755fs Single submitter Inborn genetic diseases
  • p.Met706Lys Single submitter intellectual disability, autosomal dominant 6
  • p.Phe671fs Single submitter
  • p.Phe836fs Single submitter intellectual disability, autosomal dominant 6
  • p.Pro680fs Single submitter
  • p.Ser246Ter Single submitter intellectual disability, autosomal dominant 6
  • p.Ser34fs Single submitter Inborn genetic diseases
  • p.Ser383fs Single submitter developmental and epileptic encephalopathy, 27
  • p.Ser526fs Single submitter developmental and epileptic encephalopathy, 27
  • p.Ser526Pro Single submitter complex neurodevelopmental disorder
  • p.Ser555Thr Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Ser617Thr Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Ser9fs Single submitter autism spectrum disorder
  • p.Thr1390fs Single submitter
  • p.Thr268fs Single submitter intellectual disability, autosomal dominant 6
  • p.Thr410_Val419del Single submitter intellectual disability, autosomal dominant 6
  • p.Thr482fs Single submitter
  • p.Thr514Ile Single submitter
  • p.Thr691Arg Single submitter intellectual disability, autosomal dominant 6
  • p.Trp373Ter Single submitter intellectual disability, autosomal dominant 6
  • p.Trp607Ser Single submitter developmental and epileptic encephalopathy, 27
  • p.Trp607Ter Single submitter developmental and epileptic encephalopathy, 27
  • p.Tyr1049Ter Single submitter intellectual disability, autosomal dominant 6
  • p.Tyr1070Ter Single submitter intellectual disability, autosomal dominant 6
  • p.Tyr585Ter Single submitter Developmental disorder
  • p.Tyr869Ter Single submitter Inborn genetic diseases
  • p.Val280fs Single submitter
  • p.Val363fs Single submitter intellectual disability, autosomal dominant 6
  • p.Val536Ile Single submitter intellectual disability, autosomal dominant 6
  • p.Val714fs Single submitter intellectual disability, autosomal dominant 6
  • p.Val821Phe Single submitter complex neurodevelopmental disorder
  • c.2011-2_2021dup No assertion criteria intellectual disability, autosomal dominant 6
  • p.Arg1236fs No assertion criteria intellectual disability, autosomal dominant 6
  • p.Asn616Lys No assertion criteria
  • p.Ser541Gly No assertion criteria developmental and epileptic encephalopathy, 27
  • p.Thr1286fs No assertion criteria intellectual disability, autosomal dominant 6

Pathogenic/Likely pathogenic 40

  • p.574VF[1] Multiple submitters intellectual disability, autosomal dominant 6
  • p.Ala639Val Multiple submitters Inborn genetic diseases
  • p.Ala819Thr Multiple submitters intellectual disability, autosomal dominant 6
  • p.Arg1111His Multiple submitters intellectual disability, autosomal dominant 6 ⚠
  • p.Arg393Ter Multiple submitters autosomal dominant non-syndromic intellectual disability
  • p.Arg540His Multiple submitters Inborn genetic diseases
  • p.Arg682Cys Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Arg682His Multiple submitters intellectual disability, autosomal dominant 6
  • p.Arg696Cys Multiple submitters intellectual disability, autosomal dominant 6
  • p.Arg696His Multiple submitters Inborn genetic diseases
  • p.Arg847Ter Multiple submitters GRIN2B-related disorder
  • p.Asn516Ser Multiple submitters GRIN2B-related disorder
  • p.Asn615Ser Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Asn616Ser Multiple submitters intellectual disability, autosomal dominant 6 ⚠
  • p.Asp668Asn Multiple submitters intellectual disability, autosomal dominant 6
  • p.Asp668Tyr Multiple submitters intellectual disability, autosomal dominant 6
  • p.Cys461Phe Multiple submitters intellectual disability, autosomal dominant 6
  • p.Gln845Ter Multiple submitters intellectual disability, autosomal dominant 6
  • p.Glu657Gly Multiple submitters intellectual disability, autosomal dominant 6
  • p.Glu807Lys Multiple submitters intellectual disability, autosomal dominant 6
  • p.Glu839Lys Multiple submitters intellectual disability, autosomal dominant 6
  • p.Gly533Asp Multiple submitters GRIN2B-related disorder
  • p.Gly611Val Multiple submitters GRIN2B-related disorder
  • p.Gly689Ser Multiple submitters Developmental disorder
  • p.Gly820Ala Multiple submitters Inborn genetic diseases
  • p.Gly820Arg Multiple submitters Inborn genetic diseases
  • p.Gly820Glu Multiple submitters intellectual disability, autosomal dominant 6
  • p.Gly820Val Multiple submitters GRIN2B-related disorder
  • p.Gly826Glu Multiple submitters intellectual disability, autosomal dominant 6
  • p.Ile695Thr Multiple submitters intellectual disability, autosomal dominant 6
  • p.Ile751Thr Multiple submitters intellectual disability, autosomal dominant 6 ⚠
  • p.Leu813Val Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Met706Val Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Met739Thr Multiple submitters intellectual disability, autosomal dominant 6
  • p.Met818Thr Multiple submitters intellectual disability, autosomal dominant 6
  • p.Thr798Pro Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Trp559Arg Multiple submitters intellectual disability, autosomal dominant 6
  • p.Tyr1304Ter Multiple submitters intellectual disability, autosomal dominant 6
  • p.Val558Ile Multiple submitters intellectual disability, autosomal dominant 6 ⚠
  • p.Val686Met Multiple submitters Inborn genetic diseases

Likely pathogenic 131

  • p.Ala734Val Multiple submitters intellectual disability, autosomal dominant 6
  • p.Arg519Gln Multiple submitters intellectual disability
  • p.Asn694Ser Multiple submitters GRIN2B-related disorder
  • p.Gly499Arg Multiple submitters intellectual disability, autosomal dominant 6
  • p.Gly543_Thr544del Multiple submitters developmental and epileptic encephalopathy, 27
  • p.His486Tyr Multiple submitters intellectual disability, autosomal dominant 6 ⚠
  • p.Ile655Val Multiple submitters developmental and epileptic encephalopathy, 27 ⚠
  • p.Met818Ile Multiple submitters intellectual disability, autosomal dominant 6
  • p.Met818Leu Multiple submitters intellectual disability, autosomal dominant 6
  • p.Met824Val Multiple submitters GRIN2B-related disorder ⚠
  • p.Pro360Leu Multiple submitters neurodevelopmental disorder
  • p.Pro553Leu Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Pro687Arg Multiple submitters intellectual disability, autosomal dominant 6
  • p.Val620Met Multiple submitters developmental and epileptic encephalopathy, 27
  • c.1126-1G>T Single submitter
  • c.1500+1G>A Single submitter intellectual disability, autosomal dominant 6
  • c.2010+1G>C Single submitter intellectual disability, autosomal dominant 6
  • c.2010+1G>T Single submitter GRIN2B-related disorder
  • c.2011-2_2038dup Single submitter intellectual disability, autosomal dominant 6
  • c.2360-3_2377delinsTTTC Single submitter intellectual disability, autosomal dominant 6
  • c.412-2A>G Single submitter intellectual disability, autosomal dominant 6
  • p.Ala1414_Ser1415insTer Single submitter complex neurodevelopmental disorder
  • p.Ala549Val Single submitter intellectual disability, autosomal dominant 6
  • p.Ala636Pro Single submitter intellectual disability, autosomal dominant 6
  • p.Ala636Thr Single submitter developmental and epileptic encephalopathy ⚠
  • p.Ala636Val Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Ala639Asp Single submitter GRIN2B-related disorder
  • p.Ala652Gly Single submitter
  • p.Ala733Glu Single submitter developmental and epileptic encephalopathy, 27
  • p.Ala733Pro Single submitter developmental and epileptic encephalopathy, 27
  • p.Ala819Val Single submitter intellectual disability, autosomal dominant 6
  • p.Arg1463fs Single submitter developmental and epileptic encephalopathy, 27
  • p.Arg519Leu Single submitter intellectual disability, autosomal dominant 6
  • p.Arg540Cys Single submitter intellectual disability, autosomal dominant 6
  • p.Arg693Ser Single submitter intellectual disability, autosomal dominant 6
  • p.Arg742Ile Single submitter Atypical behavior
  • p.Arg900fs Single submitter
  • p.Arg926Ter Single submitter Inborn genetic diseases
  • p.Asn341Ile Single submitter intellectual disability
  • p.Asn615Ile Single submitter intellectual disability, autosomal dominant 6
  • p.Asn615Lys Single submitter intellectual disability, autosomal dominant 6
  • p.Asn817Asp Single submitter GRIN2B-related disorder
  • p.Asp1087fs Single submitter intellectual disability, autosomal dominant 6
  • p.Asp1131fs Single submitter intellectual disability, autosomal dominant 6
  • p.Asp463Asn Single submitter intellectual disability, autosomal dominant 6
  • p.Asp676Asn Single submitter ⚠
  • p.Asp732Glu Single submitter intellectual disability, autosomal dominant 6
  • p.Cys436Ter Single submitter intellectual disability, autosomal dominant 6
  • p.Cys456Tyr Single submitter intellectual disability, autosomal dominant 6
  • p.Cys746Ser Single submitter Global developmental delay
  • p.Cys746Trp Single submitter
  • p.Cys746Tyr Single submitter GRIN2B-related disorder
  • p.Gln662Pro Single submitter intellectual disability, autosomal dominant 6
  • p.Gln919fs Single submitter Inborn genetic diseases
  • p.Glu1101Ter Single submitter
  • p.Glu235Lys Single submitter ⚠
  • p.Glu413Lys Single submitter intellectual disability, autosomal dominant 6
  • p.Glu500Ter Single submitter developmental and epileptic encephalopathy, 27
  • p.Glu517Lys Single submitter intellectual disability, autosomal dominant 6
  • p.Glu657Asp Single submitter intellectual disability, autosomal dominant 6
  • p.Glu692Gly Single submitter GRIN2B-related disorder
  • p.Glu936Ter Single submitter GRIN2B-related disorder
  • p.Gly427Val Single submitter intellectual disability, autosomal dominant 6
  • p.Gly459Glu Single submitter Inborn genetic diseases
  • p.Gly499Val Single submitter intellectual disability, autosomal dominant 6
  • p.Gly543Arg Single submitter intellectual disability, autosomal dominant 6
  • p.Gly611Arg Single submitter intellectual disability, autosomal dominant 6
  • p.Gly763Ser Single submitter developmental and epileptic encephalopathy, 27
  • p.Gly852Ala Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Gly852fs Single submitter
  • p.His895fs Single submitter developmental and epileptic encephalopathy, 27
  • p.Ile655Phe Single submitter intellectual disability, autosomal dominant 6
  • p.Ile695Ser Single submitter
  • p.Ile730Thr Single submitter
  • p.Ile751Leu Single submitter ⚠
  • p.Ile837fs Single submitter intellectual disability, autosomal dominant 6
  • p.Leu339fs Single submitter
  • p.Leu650_Phe653del Single submitter intellectual disability
  • p.Leu797Phe Single submitter developmental and epileptic encephalopathy, 27
  • p.Leu825Val Single submitter intellectual disability, autosomal dominant 6
  • p.Met562Arg Single submitter intellectual disability, autosomal dominant 6
  • p.Met654Val Single submitter Autosomal dominant GRIN2B-related disorders
  • p.Met739Arg Single submitter craniosynostosis ⚠
  • p.Met739fs Single submitter
  • p.Met818Lys Single submitter intellectual disability, autosomal dominant 6
  • p.Met824Ile Single submitter intellectual disability, autosomal dominant 6
  • p.Met824Lys Single submitter intellectual disability, autosomal dominant 6
  • p.Met829fs Single submitter
  • p.Phe525Val Single submitter intellectual disability, autosomal dominant 6
  • p.Phe550Ser Single submitter Inborn genetic diseases
  • p.Phe683Ser Single submitter intellectual disability, autosomal dominant 6
  • p.Phe709Val Single submitter intellectual disability, autosomal dominant 6
  • p.Phe941fs Single submitter intellectual disability, autosomal dominant 6
  • p.Pro582Ser Single submitter
  • p.Pro687Leu Single submitter intellectual disability, autosomal dominant 6
  • p.Pro952Gln Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Ser170Phe Single submitter intellectual disability, autosomal dominant 6
  • p.Ser541Lys Single submitter Inborn genetic diseases
  • p.Ser555Ile Single submitter intellectual disability, autosomal dominant 6
  • p.Ser628Cys Single submitter intellectual disability, autosomal dominant 6
  • p.Ser628Phe Single submitter intellectual disability, autosomal dominant 6
  • p.Ser628Tyr Single submitter developmental and epileptic encephalopathy, 27
  • p.Ser667Arg Single submitter
  • p.Ser810Asn Single submitter intellectual disability, autosomal dominant 6
  • p.Ser870fs Single submitter
  • p.Thr1306fs Single submitter
  • p.Thr514Ala Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Thr514Asn Single submitter intellectual disability, autosomal dominant 6
  • p.Thr691Ile Single submitter developmental and epileptic encephalopathy, 27
  • p.Thr835_Ile837del Single submitter developmental and epileptic encephalopathy, 27
  • p.Thr942fs Single submitter
  • p.Trp796Arg Single submitter intellectual disability, autosomal dominant 6
  • p.Tyr1004fs Single submitter
  • p.Tyr1039Ter Single submitter intellectual disability, autosomal dominant 6
  • p.Tyr1281fs Single submitter
  • p.Tyr356Ter Single submitter intellectual disability, autosomal dominant 6
  • p.Tyr579fs Single submitter GRIN2B-related disorder
  • p.Val536Ala Single submitter intellectual disability, autosomal dominant 6
  • p.Val558Ala Single submitter GRIN2B-related disorder
  • p.Val618Gly Single submitter intellectual disability, autosomal dominant 6
  • p.Val618Ile Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Val663Asp Single submitter GRIN2B-related complex neurodevelopmental disorder
  • p.Val714Glu Single submitter autism spectrum disorder
  • p.Val853fs Single submitter
  • c.2599-1G>A No assertion criteria
  • p.Arg519Gly No assertion criteria complex neurodevelopmental disorder
  • p.Cys429Ter No assertion criteria intellectual disability, autosomal dominant 6
  • p.Gly499Glu No assertion criteria complex neurodevelopmental disorder
  • p.Gly799Ser No assertion criteria Developmental delay
  • p.Trp607Cys No assertion criteria intellectual disability, autosomal dominant 6
  • p.Tyr1225Ter No assertion criteria complex neurodevelopmental disorder

Conflicting classifications of pathogenicity 133

  • c.1010+3G>A Single submitter developmental and epileptic encephalopathy, 27
  • c.1125+5G>A Single submitter Inborn genetic diseases
  • c.2011-5T>C Single submitter Inborn genetic diseases
  • c.2011-8C>G Single submitter developmental and epileptic encephalopathy, 27
  • c.2172-8C>T Single submitter developmental and epileptic encephalopathy, 27
  • p.Ala109Ser Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Ala1267Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala1267Thr Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Ala1271Val Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Ala1350Val Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Ala1359= Single submitter intellectual disability, autosomal dominant 6
  • p.Ala1414Val Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Ala1433= Single submitter intellectual disability, autosomal dominant 6
  • p.Ala1437Ile Single submitter intellectual disability, autosomal dominant 6
  • p.Ala1437Thr Single submitter ⚠
  • p.Ala644Thr Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Ala740Val Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Ala876Val Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Arg1016Lys Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Arg1057His Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Arg1112Gln Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Arg1115Gly Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Arg1130Trp Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Arg1138Leu Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Arg1158Gln Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Arg1216Cys Single submitter developmental and epileptic encephalopathy, 27
  • p.Arg1295Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg1422Gln Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Arg27His Single submitter Inborn genetic diseases ⚠
  • p.Arg27Leu Single submitter Inborn genetic diseases ⚠
  • p.Arg292= Single submitter intellectual disability, autosomal dominant 6
  • p.Arg375= Single submitter GRIN2B-related disorder
  • p.Arg774Cys Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Arg84Cys Single submitter developmental and epileptic encephalopathy, 27
  • p.Arg900Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg92Gln Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Arg990Gln Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Asn1352del Single submitter intellectual disability, autosomal dominant 6
  • p.Asn1366del Single submitter intellectual disability, autosomal dominant 6
  • p.Asn333Ser Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Asn368Thr Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Asn649Ser Single submitter GRIN2B-related complex neurodevelopmental disorder ⚠
  • p.Asn649Thr Single submitter GRIN2B-related disorder ⚠
  • p.Asn817Ser Single submitter Inborn genetic diseases ⚠
  • p.Asn892Asp Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Asp1037Glu Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Asp1165Asn Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Asp57Val Single submitter intellectual disability, autosomal dominant 6
  • p.Asp977Glu Single submitter Inborn genetic diseases ⚠
  • p.Cys1447= Single submitter intellectual disability, autosomal dominant 6
  • p.Cys436Arg Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Cys854Phe Single submitter Inborn genetic diseases ⚠
  • p.Cys954Tyr Single submitter Inborn genetic diseases ⚠
  • p.Gln331Arg Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Gln331Lys Single submitter Inborn genetic diseases ⚠
  • p.Gln775His Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Glu1314Asp Single submitter Inborn genetic diseases ⚠
  • p.Glu200Gln Single submitter developmental and epileptic encephalopathy, 27
  • p.Glu47Gly Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Glu55Lys Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Gly1002Arg Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Gly1026Ser Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Gly1188= Single submitter intellectual disability, autosomal dominant 6
  • p.Gly1235Ser Single submitter Inborn genetic diseases ⚠
  • p.Gly1249= Single submitter Inborn genetic diseases
  • p.Gly1370Arg Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Gly1436Ala Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.His127= Single submitter intellectual disability, autosomal dominant 6
  • p.His1364del Single submitter developmental and epileptic encephalopathy, 27
  • p.His937Arg Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Ile108= Single submitter intellectual disability, autosomal dominant 6
  • p.Ile150Val Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Ile171Val Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Ile227Val Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Ile35Thr Single submitter developmental and epileptic encephalopathy, 27
  • p.Ile85Val Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Ile864fs Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Leu1434Phe Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Leu833Val Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Lys1327= Single submitter developmental and epileptic encephalopathy, 27
  • p.Lys1402Arg Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Lys382Asn Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Lys976del Single submitter intellectual disability, autosomal dominant 6
  • p.Met1331Ile Single submitter Inborn genetic diseases ⚠
  • p.Met1339fs Single submitter Inborn genetic diseases ⚠
  • p.Met307Arg Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Met430Leu Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Met654Arg Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Met818Val Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Met824Arg Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Met860Val Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Phe580Tyr Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Pro1010Ser Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Pro1113Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro122Ser Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Pro1266Ser Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Pro1419Leu Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Pro32Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro679His Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Pro952Leu Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Ser1015Ala Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Ser1015Thr Single submitter Inborn genetic diseases ⚠
  • p.Ser1046Ile Single submitter ⚠
  • p.Ser1166Cys Single submitter Inborn genetic diseases ⚠
  • p.Ser131Phe Single submitter Inborn genetic diseases ⚠
  • p.Ser1347Arg Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Ser1415Leu Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Ser1452Phe Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Ser170= Single submitter intellectual disability, autosomal dominant 6
  • p.Ser208Phe Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Ser555Asn Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Ser617= Single submitter Inborn genetic diseases
  • p.Ser917Leu Single submitter intellectual disability, autosomal dominant 6
  • p.Thr1410Met Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Thr255Met Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Thr493= Single submitter intellectual disability, autosomal dominant 6
  • p.Thr685Pro Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Thr798Ser Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Thr888Ala Single submitter Inborn genetic diseases ⚠
  • p.Trp13Leu Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Tyr1004Ter Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Tyr1049Cys Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Tyr1109Cys Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Tyr1122Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr1371Cys Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Tyr282Cys Single submitter Inborn genetic diseases ⚠
  • p.Tyr646Cys Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Tyr731Cys Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Tyr949His Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Val1167Ile Single submitter Inborn genetic diseases ⚠
  • p.Val1308Met Single submitter Inborn genetic diseases ⚠
  • p.Val1322Ile Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Val1438Met Single submitter developmental and epileptic encephalopathy, 27 ⚠

Benign 131

  • c.1125+20A>G Multiple submitters intellectual disability, autosomal dominant 6
  • c.1125+9T>C Multiple submitters developmental and epileptic encephalopathy, 27
  • c.1126-12A>G Multiple submitters intellectual disability, autosomal dominant 6
  • c.1126-134C>G Multiple submitters
  • c.1126-73A>G Multiple submitters
  • c.1328+17A>G Multiple submitters intellectual disability, autosomal dominant 6
  • c.1329-32G>T Multiple submitters
  • c.1500+73G>A Multiple submitters
  • c.1501-97C>T Multiple submitters
  • c.1655-231T>A Multiple submitters
  • c.1780+78T>C Multiple submitters
  • c.1780+9G>A Multiple submitters intellectual disability, autosomal dominant 6
  • c.1781-43C>T Multiple submitters
  • c.2172-176A>G Multiple submitters
  • c.2359+47C>A Multiple submitters
  • c.2359+59T>C Multiple submitters
  • c.2360-67C>T Multiple submitters
  • c.2360-75T>C Multiple submitters
  • c.2598+100T>C Multiple submitters
  • c.-15G>A Multiple submitters
  • c.-18-10G>C Multiple submitters
  • c.-19+51A>C Multiple submitters
  • c.*409T>G Multiple submitters
  • p.Cys838= Multiple submitters intellectual disability, autosomal dominant 6
  • p.His1399= Multiple submitters Inborn genetic diseases
  • p.Ile168= Multiple submitters Inborn genetic diseases
  • p.Ile602= Multiple submitters Inborn genetic diseases
  • p.Phe1406= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Pro290= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Ser1166= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Val15= Multiple submitters intellectual disability, autosomal dominant 6
  • c.1010+196A>G Single submitter
  • c.1010+37T>C Single submitter
  • c.1126-240T>C Single submitter
  • c.1780+193A>G Single submitter
  • c.1781-161GA[2] Single submitter
  • c.1781-3C>T Single submitter intellectual disability, autosomal dominant 6
  • c.1781-64del Single submitter
  • c.2010+38A>G Single submitter
  • c.2011-200G>T Single submitter
  • c.2172-15dup Single submitter developmental and epileptic encephalopathy, 27
  • c.2172-299T>C Single submitter
  • c.2172-9C>G Single submitter developmental and epileptic encephalopathy, 27
  • c.2359+102G>A Single submitter
  • c.2359+129A>G Single submitter
  • c.2359+136G>A Single submitter
  • c.2359+224A>C Single submitter
  • c.2360-225T>C Single submitter
  • c.2598+263A>G Single submitter
  • c.2599-231dup Single submitter
  • c.-208del Single submitter
  • c.-684A>G Single submitter
  • p.Ala1078Gly Single submitter intellectual disability, autosomal dominant 6
  • p.Ala1315Thr Single submitter intellectual disability, autosomal dominant 6
  • p.Ala1344Val Single submitter intellectual disability, autosomal dominant 6
  • p.Ala1359Ser Single submitter intellectual disability, autosomal dominant 6
  • p.Ala1437Val Single submitter developmental and epileptic encephalopathy, 27
  • p.Ala26Thr Single submitter intellectual disability, autosomal dominant 6
  • p.Ala291Thr Single submitter developmental and epileptic encephalopathy, 27
  • p.Ala5Val Single submitter intellectual disability, autosomal dominant 6
  • p.Ala889Thr Single submitter developmental and epileptic encephalopathy, 27
  • p.Arg1115His Single submitter intellectual disability, autosomal dominant 6
  • p.Arg1158Leu Single submitter developmental and epileptic encephalopathy, 27
  • p.Arg1241Gln Single submitter developmental and epileptic encephalopathy, 27
  • p.Arg1441Cys Single submitter intellectual disability, autosomal dominant 6
  • p.Arg900= Single submitter intellectual disability, autosomal dominant 6
  • p.Arg92= Single submitter developmental and epileptic encephalopathy, 27
  • p.Arg939Leu Single submitter developmental and epileptic encephalopathy, 27
  • p.Asn1294Thr Single submitter
  • p.Asn1296His Single submitter developmental and epileptic encephalopathy, 27
  • p.Asn1352Lys Single submitter developmental and epileptic encephalopathy, 27
  • p.Asn1365His Single submitter developmental and epileptic encephalopathy, 27
  • p.Asn1453Lys Single submitter intellectual disability, autosomal dominant 6
  • p.Asn915Lys Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Asp1047Glu Single submitter developmental and epileptic encephalopathy, 27
  • p.Asp1054Asn Single submitter intellectual disability, autosomal dominant 6
  • p.Asp1264Glu Single submitter intellectual disability, autosomal dominant 6
  • p.Asp286His Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Gln105Glu Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Gln1136Pro Single submitter intellectual disability, autosomal dominant 6
  • p.Glu1341Gln Single submitter intellectual disability, autosomal dominant 6
  • p.Glu310Asp Single submitter intellectual disability, autosomal dominant 6
  • p.Gly1184Ser Single submitter intellectual disability, autosomal dominant 6
  • p.Gly1345= Single submitter intellectual disability, autosomal dominant 6
  • p.Gly1368Cys Single submitter intellectual disability, autosomal dominant 6
  • p.His1181Gln Single submitter intellectual disability, autosomal dominant 6
  • p.His325Asp Single submitter
  • p.His325Tyr Single submitter intellectual disability, autosomal dominant 6
  • p.His987Arg Single submitter developmental and epileptic encephalopathy, 27
  • p.His992Arg Single submitter intellectual disability, autosomal dominant 6
  • p.Ile1388Val Single submitter intellectual disability, autosomal dominant 6
  • p.Ile1446Asn Single submitter developmental and epileptic encephalopathy, 27
  • p.Ile190Val Single submitter intellectual disability, autosomal dominant 6
  • p.Ile440Val Single submitter intellectual disability, autosomal dominant 6
  • p.Leu1134= Single submitter intellectual disability, autosomal dominant 6
  • p.Leu124Val Single submitter developmental and epileptic encephalopathy, 27
  • p.Leu1317Pro Single submitter developmental and epileptic encephalopathy, 27
  • p.Leu1424Phe Single submitter intellectual disability, autosomal dominant 6
  • p.Leu209= Single submitter intellectual disability, autosomal dominant 6
  • p.Lys906Arg Single submitter developmental and epileptic encephalopathy, 27
  • p.Lys93Arg Single submitter developmental and epileptic encephalopathy, 27
  • p.Met1331Leu Single submitter developmental and epileptic encephalopathy, 27
  • p.Met1372Val Single submitter intellectual disability, autosomal dominant 6
  • p.Met142Thr Single submitter developmental and epileptic encephalopathy, 27
  • p.Met207Val Single submitter developmental and epileptic encephalopathy, 27
  • p.Met851Thr Single submitter intellectual disability, autosomal dominant 6
  • p.Phe1214Ser Single submitter developmental and epileptic encephalopathy, 27
  • p.Phe846Leu Single submitter intellectual disability, autosomal dominant 6
  • p.Pro1028Ser Single submitter developmental and epileptic encephalopathy, 27
  • p.Pro1114Ser Single submitter intellectual disability, autosomal dominant 6
  • p.Pro1172Ser Single submitter developmental and epileptic encephalopathy, 27
  • p.Pro1269Ser Single submitter intellectual disability, autosomal dominant 6
  • p.Pro1429Leu Single submitter intellectual disability, autosomal dominant 6
  • p.Pro290Ser Single submitter intellectual disability, autosomal dominant 6
  • p.Pro32Ser Single submitter developmental and epileptic encephalopathy, 27
  • p.Pro952Ser Single submitter developmental and epileptic encephalopathy, 27
  • p.Ser1017Ala Single submitter intellectual disability, autosomal dominant 6
  • p.Ser1043Ala Single submitter intellectual disability, autosomal dominant 6
  • p.Ser1050Gly Single submitter intellectual disability, autosomal dominant 6
  • p.Ser31Thr Single submitter intellectual disability, autosomal dominant 6
  • p.Ser320Thr Single submitter intellectual disability, autosomal dominant 6
  • p.Ser63Phe Single submitter intellectual disability, autosomal dominant 6
  • p.Ser90= Single submitter intellectual disability, autosomal dominant 6
  • p.Thr121Ile Single submitter intellectual disability, autosomal dominant 6
  • p.Thr1228Met Single submitter developmental and epileptic encephalopathy, 27
  • p.Thr1383Met Single submitter developmental and epileptic encephalopathy, 27
  • p.Thr1410Arg Single submitter intellectual disability, autosomal dominant 6
  • p.Tyr1225Asn Single submitter intellectual disability, autosomal dominant 6
  • p.Val1229Met Single submitter intellectual disability, autosomal dominant 6
  • p.Val1322Leu Single submitter intellectual disability, autosomal dominant 6
  • p.Val1430Ala Single submitter developmental and epileptic encephalopathy, 27

Benign/Likely benign 58

  • c.1501-13G>A Multiple submitters developmental and epileptic encephalopathy, 27
  • c.1655-12dup Multiple submitters developmental and epileptic encephalopathy, 27
  • c.1780+8C>T Multiple submitters developmental and epileptic encephalopathy, 27
  • c.2172-10del Multiple submitters developmental and epileptic encephalopathy, 27
  • c.2599-19C>A Multiple submitters developmental and epileptic encephalopathy, 27
  • c.412-20T>C Multiple submitters intellectual disability, autosomal dominant 6
  • p.Ala1412Glu Multiple submitters intellectual disability, autosomal dominant 6
  • p.Ala1414Ser Multiple submitters Inborn genetic diseases
  • p.Ala1437= Multiple submitters Inborn genetic diseases
  • p.Ala20= Multiple submitters Inborn genetic diseases
  • p.Ala271Glu Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Ala271Val Multiple submitters Inborn genetic diseases
  • p.Ala590Thr Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Ala734= Multiple submitters Inborn genetic diseases
  • p.Ala827= Multiple submitters Inborn genetic diseases
  • p.Ala876= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Arg1130Gln Multiple submitters intellectual disability, autosomal dominant 6
  • p.Arg1130Leu Multiple submitters intellectual disability, autosomal dominant 6 ⚠
  • p.Arg1441His Multiple submitters intellectual disability, autosomal dominant 6
  • p.Arg439His Multiple submitters intellectual disability, autosomal dominant 6
  • p.Asn1459Asp Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Asn897= Multiple submitters Inborn genetic diseases
  • p.Asp447= Multiple submitters Inborn genetic diseases
  • p.Glu345= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Gly1184= Multiple submitters Inborn genetic diseases
  • p.Gly1368Ser Multiple submitters intellectual disability, autosomal dominant 6
  • p.Gly1369Ser Multiple submitters Inborn genetic diseases
  • p.His1178= Multiple submitters Inborn genetic diseases
  • p.Ile171= Multiple submitters Inborn genetic diseases
  • p.Ile257= Multiple submitters Inborn genetic diseases
  • p.Ile278= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Ile340= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Ile568= Multiple submitters Inborn genetic diseases
  • p.Leu120= Multiple submitters Inborn genetic diseases
  • p.Leu901= Multiple submitters Inborn genetic diseases
  • p.Pro1196= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Pro1266Leu Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Pro1269= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Pro1319= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Ser1058= Multiple submitters Inborn genetic diseases
  • p.Ser1220= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Ser383Thr Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Ser407= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Ser555= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Thr1183= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Thr1273Lys Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Thr1279= Multiple submitters Inborn genetic diseases
  • p.Thr446= Multiple submitters Inborn genetic diseases
  • p.Thr888= Multiple submitters Inborn genetic diseases
  • p.Tyr1039= Multiple submitters Inborn genetic diseases
  • p.Tyr1371= Multiple submitters Inborn genetic diseases
  • p.Tyr452= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Val18Ile Multiple submitters intellectual disability, autosomal dominant 6
  • p.Val21Met Multiple submitters Inborn genetic diseases
  • p.Val523= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Val64Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val883Ala Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Val980Met Multiple submitters Inborn genetic diseases

Likely benign 572

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

  • c.1125+19A>C Multiple submitters intellectual disability, autosomal dominant 6
  • c.1125+6_1125+10dup Multiple submitters intellectual disability, autosomal dominant 6
  • c.1125+86C>A Multiple submitters
  • c.1500+19T>A Multiple submitters developmental and epileptic encephalopathy, 27
  • c.1500+7G>A Multiple submitters developmental and epileptic encephalopathy, 27
  • c.1501-14C>T Multiple submitters developmental and epileptic encephalopathy, 27
  • c.1501-19C>T Multiple submitters developmental and epileptic encephalopathy, 27
  • c.1654+10G>A Multiple submitters intellectual disability, autosomal dominant 6
  • c.1780+19G>A Multiple submitters intellectual disability, autosomal dominant 6
  • c.2010+25C>T Multiple submitters
  • c.2011-20_2011-17del Multiple submitters intellectual disability, autosomal dominant 6
  • c.2011-20A>G Multiple submitters intellectual disability, autosomal dominant 6
  • c.2011-4C>T Multiple submitters intellectual disability, autosomal dominant 6
  • c.2172-20_2172-17del Multiple submitters developmental and epileptic encephalopathy, 27
  • c.2172-4A>G Multiple submitters intellectual disability, autosomal dominant 6
  • c.2172-6G>A Multiple submitters Inborn genetic diseases
  • c.2172-6G>T Multiple submitters intellectual disability, autosomal dominant 6
  • c.2359+16G>A Multiple submitters intellectual disability, autosomal dominant 6
  • c.2359+16G>C Multiple submitters intellectual disability, autosomal dominant 6
  • c.2360-15C>A Multiple submitters intellectual disability, autosomal dominant 6
  • c.2599-19C>T Multiple submitters developmental and epileptic encephalopathy, 27
  • c.412-14T>C Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Ala109= Multiple submitters
  • p.Ala117= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Ala1315= Multiple submitters Inborn genetic diseases
  • p.Ala1316= Multiple submitters Inborn genetic diseases
  • p.Ala1414= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Ala1423= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Ala1440Ser Multiple submitters Inborn genetic diseases
  • p.Ala17= Multiple submitters Inborn genetic diseases
  • p.Ala244= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Ala271= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Ala819= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Ala997= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Arg1100= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Arg1138Gln Multiple submitters intellectual disability, autosomal dominant 6
  • p.Arg1164= Multiple submitters Inborn genetic diseases
  • p.Arg1216= Multiple submitters Inborn genetic diseases
  • p.Arg673= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Arg682= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Arg938His Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Asn1351Asp Multiple submitters
  • p.Asn1470= Multiple submitters Inborn genetic diseases
  • p.Asn341= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Asn688= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Asp1253= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Asp1393= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Asp210= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Asp46= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Asp715= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Gln180= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Gln982= Multiple submitters Inborn genetic diseases
  • p.Glu879= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Glu936= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Gly1368= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Gly1471= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Gly346= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Gly611= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Gly625= Multiple submitters intellectual disability, autosomal dominant 6
  • p.His1181= Multiple submitters intellectual disability, autosomal dominant 6
  • p.His1338= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.His325= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Ile1000= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Ile1063= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Ile1154= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Ile877= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Ile94= Multiple submitters Inborn genetic diseases
  • p.Leu1003= Multiple submitters Inborn genetic diseases
  • p.Leu1027= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Leu1038= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Leu112= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Leu124= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Leu1251= Multiple submitters Inborn genetic diseases
  • p.Leu1398= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Leu203= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Leu367= Multiple submitters
  • p.Leu425= Multiple submitters Inborn genetic diseases
  • p.Leu612= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Leu833= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Lys30= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Lys467= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Lys51= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Phe1102= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Phe1405= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Phe941= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Phe970= Multiple submitters Inborn genetic diseases
  • p.Pro1113= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Pro122= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Pro1266= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Pro1429= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Pro148= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Pro3= Multiple submitters Inborn genetic diseases
  • p.Pro33= Multiple submitters Inborn genetic diseases
  • p.Pro360= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Pro450= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Pro680= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Pro887= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Pro918= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Pro952= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Ser1095= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Ser1168= Multiple submitters Inborn genetic diseases
  • p.Ser1210= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Ser131= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Ser1482= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Ser155= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Ser63= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Ser667= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Ser882Ala Multiple submitters Inborn genetic diseases
  • p.Ser896= Multiple submitters
  • p.Thr1152= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Thr255= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Thr627= Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Thr685= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Thr750= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Thr904= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Thr942= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Thr942Met Multiple submitters Inborn genetic diseases
  • p.Tyr282= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Tyr949= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Val1322= Multiple submitters Inborn genetic diseases
  • p.Val1356Met Multiple submitters Inborn genetic diseases
  • p.Val172Ile Multiple submitters developmental and epileptic encephalopathy, 27
  • p.Val269= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Val634= Multiple submitters intellectual disability, autosomal dominant 6
  • p.Val749= Multiple submitters Inborn genetic diseases
  • c.1010+10G>T Single submitter intellectual disability, autosomal dominant 6
  • c.1010+13C>A Single submitter
  • c.1010+20C>A Single submitter intellectual disability, autosomal dominant 6
  • c.1010+20C>T Single submitter developmental and epileptic encephalopathy, 27
  • c.1010+308C>T Single submitter
  • c.1011-10A>T Single submitter developmental and epileptic encephalopathy, 27
  • c.1011-15A>G Single submitter intellectual disability, autosomal dominant 6
  • c.1011-18T>G Single submitter developmental and epileptic encephalopathy, 27
  • c.1011-20C>A Single submitter intellectual disability, autosomal dominant 6
  • c.1011-20C>G Single submitter intellectual disability, autosomal dominant 6
  • c.1011-20C>T Single submitter developmental and epileptic encephalopathy, 27
  • c.1011-271C>T Single submitter
  • c.1011-5T>A Single submitter developmental and epileptic encephalopathy, 27
  • c.1125+12C>T Single submitter developmental and epileptic encephalopathy, 27
  • c.1126-10C>T Single submitter intellectual disability, autosomal dominant 6
  • c.1126-16G>A Single submitter developmental and epileptic encephalopathy, 27
  • c.1126-16G>C Single submitter developmental and epileptic encephalopathy, 27
  • c.1126-20T>C Single submitter intellectual disability, autosomal dominant 6
  • c.1126-7del Single submitter intellectual disability, autosomal dominant 6
  • c.1328+10C>A Single submitter intellectual disability, autosomal dominant 6
  • c.1328+10C>T Single submitter developmental and epileptic encephalopathy, 27
  • c.1328+11C>T Single submitter developmental and epileptic encephalopathy, 27
  • c.1328+14T>C Single submitter intellectual disability, autosomal dominant 6
  • c.1329-15T>A Single submitter developmental and epileptic encephalopathy, 27
  • c.1329-15T>C Single submitter developmental and epileptic encephalopathy, 27
  • c.1329-8T>A Single submitter intellectual disability, autosomal dominant 6
  • c.1500+10CA[4] Single submitter developmental and epileptic encephalopathy, 27
  • c.1500+20G>C Single submitter intellectual disability, autosomal dominant 6
  • c.1500+47C>T Single submitter
  • c.1500+8T>A Single submitter intellectual disability, autosomal dominant 6
  • c.1501-12C>T Single submitter intellectual disability, autosomal dominant 6
  • c.1501-15G>A Single submitter intellectual disability, autosomal dominant 6
  • c.1501-16C>T Single submitter intellectual disability, autosomal dominant 6
  • c.1501-7C>G Single submitter intellectual disability, autosomal dominant 6
  • c.1654+12G>C Single submitter intellectual disability, autosomal dominant 6
  • c.1654+15T>A Single submitter intellectual disability, autosomal dominant 6
  • c.1654+19G>C Single submitter developmental and epileptic encephalopathy, 27
  • c.1654+19G>T Single submitter developmental and epileptic encephalopathy, 27
  • c.1654+20G>T Single submitter intellectual disability, autosomal dominant 6
  • c.1654+36G>A Single submitter
  • c.1654+9T>C Single submitter developmental and epileptic encephalopathy, 27
  • c.1655-11C>G Single submitter intellectual disability, autosomal dominant 6
  • c.1655-14T>C Single submitter developmental and epileptic encephalopathy, 27
  • c.1655-18C>T Single submitter intellectual disability, autosomal dominant 6
  • c.1655-5C>T Single submitter developmental and epileptic encephalopathy, 27
  • c.1655-6C>A Single submitter intellectual disability, autosomal dominant 6
  • c.1655-9C>A Single submitter developmental and epileptic encephalopathy, 27
  • c.1780+133C>T Single submitter
  • c.1780+18C>T Single submitter intellectual disability, autosomal dominant 6
  • c.1780+20C>G Single submitter intellectual disability, autosomal dominant 6
  • c.1780+7C>A Single submitter intellectual disability, autosomal dominant 6
  • c.1780+8C>G Single submitter intellectual disability, autosomal dominant 6
  • c.1781-14T>G Single submitter developmental and epileptic encephalopathy, 27
  • c.1781-4C>A Single submitter intellectual disability, autosomal dominant 6
  • c.2010+8A>T Single submitter intellectual disability, autosomal dominant 6
  • c.2010+9C>T Single submitter intellectual disability, autosomal dominant 6
  • c.2011-10C>T Single submitter developmental and epileptic encephalopathy, 27
  • c.2011-11TC[2] Single submitter intellectual disability, autosomal dominant 6
  • c.2011-11TC[3] Single submitter developmental and epileptic encephalopathy, 27
  • c.2011-12T>G Single submitter
  • c.2011-197T>C Single submitter
  • c.2011-20_2011-11del Single submitter intellectual disability, autosomal dominant 6
  • c.2011-20_2011-17dup Single submitter intellectual disability, autosomal dominant 6
  • c.2011-7T>C Single submitter intellectual disability, autosomal dominant 6
  • c.2011-8C>T Single submitter intellectual disability, autosomal dominant 6
  • c.2171+10G>T Single submitter developmental and epileptic encephalopathy, 27
  • c.2171+17A>C Single submitter intellectual disability, autosomal dominant 6
  • c.2171+18G>T Single submitter intellectual disability, autosomal dominant 6
  • c.2171+9T>C Single submitter developmental and epileptic encephalopathy, 27
  • c.2172-16C>T Single submitter intellectual disability, autosomal dominant 6
  • c.2172-19T>G Single submitter intellectual disability, autosomal dominant 6
  • c.2172-63G>A Single submitter
  • c.2172-8del Single submitter intellectual disability, autosomal dominant 6
  • c.2359+12_2359+15dup Single submitter intellectual disability, autosomal dominant 6
  • c.2359+15G>A Single submitter intellectual disability, autosomal dominant 6
  • c.2359+17G>C Single submitter developmental and epileptic encephalopathy, 27
  • c.2360-10del Single submitter developmental and epileptic encephalopathy, 27
  • c.2360-153T>C Single submitter
  • c.2360-16T>G Single submitter intellectual disability, autosomal dominant 6
  • c.2360-6C>T Single submitter intellectual disability, autosomal dominant 6
  • c.2360-9_2360-4del Single submitter intellectual disability, autosomal dominant 6
  • c.2598+11T>C Single submitter developmental and epileptic encephalopathy, 27
  • c.2598+14T>C Single submitter intellectual disability, autosomal dominant 6
  • c.2598+6T>C Single submitter intellectual disability, autosomal dominant 6
  • c.2599-15C>G Single submitter developmental and epileptic encephalopathy, 27
  • c.2599-17_2599-14del Single submitter developmental and epileptic encephalopathy, 27
  • c.2599-18C>T Single submitter intellectual disability, autosomal dominant 6
  • c.2599-29T>C Single submitter
  • c.2599-7G>C Single submitter intellectual disability, autosomal dominant 6
  • c.411+151del Single submitter
  • c.411+17G>C Single submitter developmental and epileptic encephalopathy, 27
  • c.411+293C>T Single submitter
  • c.411+8G>A Single submitter developmental and epileptic encephalopathy, 27
  • c.411+9G>A Single submitter intellectual disability, autosomal dominant 6
  • c.412-15C>G Single submitter developmental and epileptic encephalopathy, 27
  • c.412-4C>T Single submitter intellectual disability, autosomal dominant 6
  • c.412-5del Single submitter intellectual disability, autosomal dominant 6
  • c.412-6T>C Single submitter intellectual disability, autosomal dominant 6
  • c.-12G>A Single submitter
  • c.-205A>T Single submitter intellectual disability, autosomal dominant 6
  • c.-392G>T Single submitter
  • c.-47G>T Single submitter
  • c.*1230G>C Single submitter
  • p.Ala1077= Single submitter intellectual disability, autosomal dominant 6
  • p.Ala1078= Single submitter intellectual disability, autosomal dominant 6
  • p.Ala1238= Single submitter intellectual disability, autosomal dominant 6
  • p.Ala1271= Single submitter
  • p.Ala1344Ser Single submitter intellectual disability, autosomal dominant 6
  • p.Ala1350= Single submitter intellectual disability, autosomal dominant 6
  • p.Ala1412= Single submitter developmental and epileptic encephalopathy, 27
  • p.Ala237= Single submitter intellectual disability, autosomal dominant 6
  • p.Ala5= Single submitter developmental and epileptic encephalopathy, 27
  • p.Ala571= Single submitter intellectual disability, autosomal dominant 6
  • p.Ala636= Single submitter developmental and epileptic encephalopathy, 27
  • p.Ala644= Single submitter developmental and epileptic encephalopathy, 27
  • p.Ala648= Single submitter developmental and epileptic encephalopathy, 27
  • p.Ala717= Single submitter intellectual disability, autosomal dominant 6
  • p.Ala72= Single submitter developmental and epileptic encephalopathy, 27
  • p.Ala728= Single submitter intellectual disability, autosomal dominant 6
  • p.Ala827Thr Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Ala905= Single submitter developmental and epileptic encephalopathy, 27
  • p.Ala921Pro Single submitter intellectual disability, autosomal dominant 6
  • p.Arg1048= Single submitter intellectual disability, autosomal dominant 6
  • p.Arg1080Lys Single submitter Inborn genetic diseases
  • p.Arg1092Gln Single submitter intellectual disability, autosomal dominant 6 ⚠
  • p.Arg1099His Single submitter intellectual disability, autosomal dominant 6
  • p.Arg1112= Single submitter intellectual disability, autosomal dominant 6
  • p.Arg1115Ser Single submitter intellectual disability, autosomal dominant 6
  • p.Arg1209= Single submitter developmental and epileptic encephalopathy, 27
  • p.Arg1241= Single submitter intellectual disability, autosomal dominant 6
  • p.Arg1295= Single submitter developmental and epileptic encephalopathy, 27
  • p.Arg1381= Single submitter developmental and epileptic encephalopathy, 27
  • p.Arg1418= Single submitter intellectual disability, autosomal dominant 6
  • p.Arg1441= Single submitter developmental and epileptic encephalopathy, 27
  • p.Arg187Cys Single submitter
  • p.Arg328= Single submitter intellectual disability, autosomal dominant 6
  • p.Arg337= Single submitter intellectual disability, autosomal dominant 6
  • p.Arg540= Single submitter
  • p.Arg67= Single submitter intellectual disability, autosomal dominant 6
  • p.Arg67Trp Single submitter developmental and epileptic encephalopathy, 27 ⚠
  • p.Arg712= Single submitter intellectual disability, autosomal dominant 6
  • p.Arg903His Single submitter intellectual disability, autosomal dominant 6
  • p.Arg927= Single submitter intellectual disability, autosomal dominant 6
  • p.Arg938= Single submitter intellectual disability, autosomal dominant 6
  • p.Asn1175= Single submitter developmental and epileptic encephalopathy, 27
  • p.Asn1213Ile Single submitter paroxysmal dystonia
  • p.Asn1250= Single submitter intellectual disability, autosomal dominant 6
  • p.Asn1275= Single submitter developmental and epileptic encephalopathy, 27
  • p.Asn1351= Single submitter developmental and epileptic encephalopathy, 27
  • p.Asn1385= Single submitter intellectual disability, autosomal dominant 6
  • p.Asn333= Single submitter
  • p.Asn444= Single submitter intellectual disability, autosomal dominant 6
  • p.Asn483= Single submitter
  • p.Asn586= Single submitter developmental and epileptic encephalopathy, 27
  • p.Asn622= Single submitter intellectual disability, autosomal dominant 6
  • p.Asn697= Single submitter intellectual disability, autosomal dominant 6
  • p.Asn817= Single submitter intellectual disability, autosomal dominant 6
  • p.Asn885= Single submitter developmental and epileptic encephalopathy, 27
  • p.Asn907= Single submitter intellectual disability, autosomal dominant 6
  • p.Asn910= Single submitter developmental and epileptic encephalopathy, 27
  • p.Asn979= Single submitter intellectual disability, autosomal dominant 6
  • p.Asp1053= Single submitter intellectual disability, autosomal dominant 6
  • p.Asp1059= Single submitter intellectual disability, autosomal dominant 6
  • p.Asp1103= Single submitter developmental and epileptic encephalopathy, 27
  • p.Asp1131= Single submitter developmental and epileptic encephalopathy, 27
  • p.Asp1153= Single submitter developmental and epileptic encephalopathy, 27
  • p.Asp1165= Single submitter intellectual disability, autosomal dominant 6
  • p.Asp1185= Single submitter
  • p.Asp1326= Single submitter intellectual disability, autosomal dominant 6
  • p.Asp136= Single submitter intellectual disability, autosomal dominant 6
  • p.Asp138= Single submitter intellectual disability, autosomal dominant 6
  • p.Asp1380= Single submitter developmental and epileptic encephalopathy, 27
  • p.Asp165= Single submitter developmental and epileptic encephalopathy, 27
  • p.Asp206= Single submitter
  • p.Asp211Asn Single submitter developmental and epileptic encephalopathy, 27

Uncertain significance 597

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