SLC1A2 — 536 ClinVar variants
All ClinVar germline SLC1A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 220 flagged for review →
1 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 20 Conflicting · 51 Benign · 17 Benign/Likely benign · 220 Likely benign · 219 Uncertain significance
Full SLC1A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 220
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.
-
SLC1A2 p.His542Arg
Likely pathogenic
Single submitter
developmental and epileptic encephalopathy, 41
-
SLC1A2 p.Ile230Thr
Likely pathogenic
Single submitter
developmental and epileptic encephalopathy, 41
Predictors agree, ClinVar conflicts 16
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SLC1A2 p.Ala349Ser
Conflicting
Single submitter
Inborn genetic diseases
-
SLC1A2 p.Arg31Gln
Conflicting
Single submitter
Inborn genetic diseases
-
SLC1A2 p.Arg36His
Conflicting
Single submitter
developmental and epileptic encephalopathy, 41
-
SLC1A2 p.Arg572His
Conflicting
Single submitter
Inborn genetic diseases
-
SLC1A2 p.Arg65Cys
Conflicting
Single submitter
developmental and epileptic encephalopathy, 41
-
SLC1A2 p.Asp562Asn
Conflicting
Single submitter
developmental and epileptic encephalopathy, 41
-
SLC1A2 p.Cys563Ser
Conflicting
Single submitter
Inborn genetic diseases
-
SLC1A2 p.Gln13Pro
Conflicting
Single submitter
Inborn genetic diseases
-
SLC1A2 p.Gly6Ser
Conflicting
Single submitter
Inborn genetic diseases
-
SLC1A2 p.His22Arg
Conflicting
Single submitter
Inborn genetic diseases
-
SLC1A2 p.Leu85Pro
Conflicting
Single submitter
Inborn genetic diseases
- SLC1A2 p.Met18Ile Conflicting Single submitter
-
SLC1A2 p.Pro201Leu
Conflicting
Single submitter
Inborn genetic diseases
- SLC1A2 p.Pro223Gln Conflicting Single submitter
- SLC1A2 p.Thr192Met Conflicting Single submitter
- SLC1A2 p.Val457Met Conflicting Single submitter
Predictors lean, ClinVar uncertain 161
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 161
-
SLC1A2 p.Ala210Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC1A2 p.Ala293Thr
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 41
- SLC1A2 p.Ala349Thr Uncertain significance Multiple submitters
-
SLC1A2 p.Ala349Val
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 41
- SLC1A2 p.Ala362Thr Uncertain significance Multiple submitters
-
SLC1A2 p.Ala409Thr
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 41
-
SLC1A2 p.Asn8Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SLC1A2 p.Asp170Asn Uncertain significance Multiple submitters
- SLC1A2 p.Asp20Asn Uncertain significance Multiple submitters
- SLC1A2 p.Asp73His Uncertain significance Multiple submitters
-
SLC1A2 p.Glu203Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC1A2 p.Gly323Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC1A2 p.Gly400Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SLC1A2 p.Ile504Leu Uncertain significance Multiple submitters
- SLC1A2 p.Ile504Thr Uncertain significance Multiple submitters
-
SLC1A2 p.Ile514Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC1A2 p.Leu23Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC1A2 p.Leu451Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC1A2 p.Lys157Glu
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 41
- SLC1A2 p.Pro369Ala Uncertain significance Multiple submitters
-
SLC1A2 p.Ser209Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC1A2 p.Ser209Asn
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 41
-
SLC1A2 p.Thr118Met
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 41
- SLC1A2 p.Thr517Ala Uncertain significance Multiple submitters
- SLC1A2 p.Trp570Ser Uncertain significance Multiple submitters
-
SLC1A2 p.Tyr494His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SLC1A2 p.Val122Leu Uncertain significance Multiple submitters
- SLC1A2 p.Val538Ile Uncertain significance Multiple submitters
-
SLC1A2 p.Val547Ile
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 41
-
SLC1A2 p.Ala110Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC1A2 p.Ala110Thr Uncertain significance Single submitter
-
SLC1A2 p.Ala132Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 41
- SLC1A2 p.Ala167Gly Uncertain significance Single submitter
- SLC1A2 p.Ala183Thr Uncertain significance Single submitter
- SLC1A2 p.Ala205Thr Uncertain significance Single submitter
- SLC1A2 p.Ala365Ser Uncertain significance Single submitter
- SLC1A2 p.Ala394Glu Uncertain significance Single submitter
- SLC1A2 p.Ala408Val Uncertain significance Single submitter
- SLC1A2 p.Ala409Ser Uncertain significance Single submitter
-
SLC1A2 p.Ala432Asp
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 41
- SLC1A2 p.Ala439Thr Uncertain significance Single submitter
- SLC1A2 p.Ala469Thr Uncertain significance Single submitter
- SLC1A2 p.Ala79Thr Uncertain significance Single submitter
- SLC1A2 p.Arg119Lys Uncertain significance Single submitter
- SLC1A2 p.Arg173Gln Uncertain significance Single submitter
- SLC1A2 p.Arg36Cys Uncertain significance Single submitter
-
SLC1A2 p.Arg387Gly
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 41
- SLC1A2 p.Arg509Gln Uncertain significance Single submitter
- SLC1A2 p.Arg530Gly Uncertain significance Single submitter
-
SLC1A2 p.Arg87Lys
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 41
- SLC1A2 p.Asn146Ser Uncertain significance Single submitter
- SLC1A2 p.Asn159Ser Uncertain significance Single submitter
- SLC1A2 p.Asn179Ser Uncertain significance Single submitter
- SLC1A2 p.Asn378Tyr Uncertain significance Single submitter
- SLC1A2 p.Asp160Val Uncertain significance Single submitter
- SLC1A2 p.Asp170Tyr Uncertain significance Single submitter
-
SLC1A2 p.Asp421Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC1A2 p.Asp502Glu Uncertain significance Single submitter
- SLC1A2 p.Asp502Gly Uncertain significance Single submitter
- SLC1A2 p.Asp505Tyr Uncertain significance Single submitter
- SLC1A2 p.Asp525Ala Uncertain significance Single submitter
-
SLC1A2 p.Cys184Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC1A2 p.Cys374Phe Uncertain significance Single submitter
-
SLC1A2 p.Gln152His
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 41
-
SLC1A2 p.Gln189Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC1A2 p.Gln507Glu Uncertain significance Single submitter
- SLC1A2 p.Gln507Lys Uncertain significance Single submitter
-
SLC1A2 p.Glu203Asp
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 41
-
SLC1A2 p.Glu221Ala
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 41
- SLC1A2 p.Glu235Ala Uncertain significance Single submitter
- SLC1A2 p.Glu275Asp Uncertain significance Single submitter
- SLC1A2 p.Glu376Gln Uncertain significance Single submitter
- SLC1A2 p.Glu515Lys Uncertain significance Single submitter
- SLC1A2 p.Glu566Gly Uncertain significance Single submitter
- SLC1A2 p.Glu567Lys Uncertain significance Single submitter
- SLC1A2 p.Gly117Ser Uncertain significance Single submitter
- SLC1A2 p.Gly244Arg Uncertain significance Single submitter
-
SLC1A2 p.Gly253Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 41
- SLC1A2 p.Gly314Val Uncertain significance Single submitter
-
SLC1A2 p.Gly328Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC1A2 p.Gly329Ala Uncertain significance Single submitter
- SLC1A2 p.Gly329Val Uncertain significance Single submitter
- SLC1A2 p.Gly34Val Uncertain significance Single submitter
-
SLC1A2 p.Gly380Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC1A2 p.Gly393Glu Uncertain significance Single submitter
- SLC1A2 p.Gly422Ala Uncertain significance Single submitter
- SLC1A2 p.Gly422Glu Uncertain significance Single submitter
- SLC1A2 p.Gly438Ser Uncertain significance Single submitter
- SLC1A2 p.Gly446Arg Uncertain significance Single submitter
- SLC1A2 p.His32Asp Uncertain significance Single submitter
- SLC1A2 p.His495Tyr Uncertain significance Single submitter
- SLC1A2 p.His508Arg Uncertain significance Single submitter
-
SLC1A2 p.His529Asp
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 41
- SLC1A2 p.His529Gln Uncertain significance Single submitter
- SLC1A2 p.His542Gln Uncertain significance Single submitter
-
SLC1A2 p.Ile102Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 41
- SLC1A2 p.Ile129Val Uncertain significance Single submitter
- SLC1A2 p.Ile188Thr Uncertain significance Single submitter
- SLC1A2 p.Ile230Ser Uncertain significance Single submitter
- SLC1A2 p.Ile284Val Uncertain significance Single submitter
- SLC1A2 p.Ile296Met Uncertain significance Single submitter
- SLC1A2 p.Ile303Val Uncertain significance Single submitter
- SLC1A2 p.Ile321Val Uncertain significance Single submitter
- SLC1A2 p.Ile322Thr Uncertain significance Single submitter
-
SLC1A2 p.Ile335Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 41
- SLC1A2 p.Ile351Ser Uncertain significance Single submitter
-
SLC1A2 p.Ile410Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC1A2 p.Ile464Val Uncertain significance Single submitter
- SLC1A2 p.Ile504Val Uncertain significance Single submitter
- SLC1A2 p.Ile514Met Uncertain significance Single submitter
-
SLC1A2 p.Ile514Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 41
- SLC1A2 p.Ile522Thr Uncertain significance Single submitter
- SLC1A2 p.Ile55Phe Uncertain significance Single submitter
- SLC1A2 p.Ile70Val Uncertain significance Single submitter
- SLC1A2 p.Ile84Arg Uncertain significance Single submitter
-
SLC1A2 p.Leu430Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC1A2 p.Lys227Thr Uncertain significance Single submitter
- SLC1A2 p.Lys559Gln Uncertain significance Single submitter
- SLC1A2 p.Met10Arg Uncertain significance Single submitter
- SLC1A2 p.Met228Leu Uncertain significance Single submitter
- SLC1A2 p.Met256Val Uncertain significance Single submitter
- SLC1A2 p.Met283Val Uncertain significance Single submitter
- SLC1A2 p.Met76Ile Uncertain significance Single submitter
-
SLC1A2 p.Met86Lys
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 41
-
SLC1A2 p.Phe337Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SLC1A2 p.Phe372Ser
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 41
- SLC1A2 p.Phe411Val Uncertain significance Single submitter
- SLC1A2 p.Phe80Leu Uncertain significance Single submitter
- SLC1A2 p.Pro11Leu Uncertain significance Single submitter
- SLC1A2 p.Pro155Thr Uncertain significance Single submitter
-
SLC1A2 p.Pro199Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC1A2 p.Pro200Leu Uncertain significance Single submitter
- SLC1A2 p.Pro223Leu Uncertain significance Single submitter
- SLC1A2 p.Pro460Thr Uncertain significance Single submitter
- SLC1A2 p.Pro72Ser Uncertain significance Single submitter
- SLC1A2 p.Ser164Thr Uncertain significance Single submitter
- SLC1A2 p.Ser480Ala Uncertain significance Single submitter
- SLC1A2 p.Ser499Tyr Uncertain significance Single submitter
- SLC1A2 p.Ser534Pro Uncertain significance Single submitter
-
SLC1A2 p.Ser534Tyr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 41
- SLC1A2 p.Ser544Phe Uncertain significance Single submitter
- SLC1A2 p.Ser560Pro Uncertain significance Single submitter
-
SLC1A2 p.Thr128Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC1A2 p.Thr371Ala Uncertain significance Single submitter
- SLC1A2 p.Thr386Ile Uncertain significance Single submitter
-
SLC1A2 p.Thr433Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- SLC1A2 p.Thr4Ser Uncertain significance Single submitter
- SLC1A2 p.Thr503Ala Uncertain significance Single submitter
- SLC1A2 p.Thr517Ser Uncertain significance Single submitter
- SLC1A2 p.Val136Ile Uncertain significance Single submitter
Predictors split 41
The independent predictors disagree with each other — read with care.
-
SLC1A2 p.Ala394Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC1A2 p.Gly107Asp
Uncertain significance
Multiple submitters
SLC1A2-related disorder
-
SLC1A2 p.Ile130Thr
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 41
- SLC1A2 p.Ile254Phe Uncertain significance Multiple submitters
- SLC1A2 p.Leu49Val Uncertain significance Multiple submitters
-
SLC1A2 p.Met259Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SLC1A2 p.Phe185Leu
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 41
- SLC1A2 p.Tyr494Cys Uncertain significance Multiple submitters
- SLC1A2 p.Ala310Thr Likely benign Single submitter
- SLC1A2 p.Ala490Thr Uncertain significance Single submitter
-
SLC1A2 p.Ala79Asp
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 41
-
SLC1A2 p.Arg115His
Conflicting
Single submitter
developmental and epileptic encephalopathy, 41
- SLC1A2 p.Arg31Trp Likely benign Single submitter
- SLC1A2 p.Arg373Cys Uncertain significance Single submitter
- SLC1A2 p.Asn206Asp Uncertain significance Single submitter
- SLC1A2 p.Asn206Lys Uncertain significance Single submitter
- SLC1A2 p.Asp548Val Uncertain significance Single submitter
- SLC1A2 p.Cys550Arg Uncertain significance Single submitter
- SLC1A2 p.Gly260Arg Benign Single submitter
-
SLC1A2 p.Gly360Ala
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 41
- SLC1A2 p.Gly458Asp Likely benign Single submitter
- SLC1A2 p.His71Tyr Uncertain significance Single submitter
- SLC1A2 p.Leu390Ile Uncertain significance Single submitter
-
SLC1A2 p.Leu47Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 41
- SLC1A2 p.Lys12Glu Uncertain significance Single submitter
- SLC1A2 p.Lys498Thr Benign Single submitter
-
SLC1A2 p.Met259Ile
Conflicting
Single submitter
developmental and epileptic encephalopathy, 41
-
SLC1A2 p.Met317Ile
Uncertain significance
Single submitter
SLC1A2-related disorder
- SLC1A2 p.Met317Thr Benign Single submitter
- SLC1A2 p.Phe249Leu Likely benign Single submitter
- SLC1A2 p.Ser441Gly Uncertain significance Single submitter
- SLC1A2 p.Thr208Ile Uncertain significance Single submitter
- SLC1A2 p.Thr427Ile Uncertain significance Single submitter
- SLC1A2 p.Thr48Pro Uncertain significance Single submitter
-
SLC1A2 p.Val14Met
Conflicting
Single submitter
Inborn genetic diseases
- SLC1A2 p.Val191Met Uncertain significance Single submitter
- SLC1A2 p.Val195Asp Benign Single submitter
- SLC1A2 p.Val195Phe Uncertain significance Single submitter
- SLC1A2 p.Val197Phe Uncertain significance Single submitter
- SLC1A2 p.Val277Ala Likely benign Single submitter
- SLC1A2 p.Val74Glu Uncertain significance Single submitter
All SLC1A2 variants
Pathogenic 1
- p.Gly82Arg No assertion criteria developmental and epileptic encephalopathy, 41
Pathogenic/Likely pathogenic 1
- p.Pro289Arg Multiple submitters developmental and epileptic encephalopathy, 41
Likely pathogenic 7
- p.Gly291Asp Single submitter
- p.Gly291Val Single submitter developmental and epileptic encephalopathy, 41
- p.His542Arg Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Ile230Thr Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Ile276Ser Single submitter developmental and epileptic encephalopathy, 41
- p.Leu89Pro Single submitter
- p.Phe249fs Single submitter developmental and epileptic encephalopathy, 41
Conflicting classifications of pathogenicity 20
- c.311-7A>T Single submitter
- p.Ala349Ser Single submitter Inborn genetic diseases ⚠
- p.Arg115His Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Arg31Gln Single submitter Inborn genetic diseases ⚠
- p.Arg36His Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Arg572His Single submitter Inborn genetic diseases ⚠
- p.Arg65Cys Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Asp562Asn Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Cys563Ser Single submitter Inborn genetic diseases ⚠
- p.Gln13Pro Single submitter Inborn genetic diseases ⚠
- p.Gly6Ser Single submitter Inborn genetic diseases ⚠
- p.His22Arg Single submitter Inborn genetic diseases ⚠
- p.Leu85Pro Single submitter Inborn genetic diseases ⚠
- p.Met18Ile Single submitter ⚠
- p.Met259Ile Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Pro201Leu Single submitter Inborn genetic diseases ⚠
- p.Pro223Gln Single submitter ⚠
- p.Thr192Met Single submitter ⚠
- p.Val14Met Single submitter Inborn genetic diseases ⚠
- p.Val457Met Single submitter ⚠
Benign 51
- c.157+31C>G Multiple submitters developmental and epileptic encephalopathy, 41
- c.158-15T>C Multiple submitters
- c.311-37A>G Multiple submitters developmental and epileptic encephalopathy, 41
- c.562-36T>C Multiple submitters developmental and epileptic encephalopathy, 41
- c.731-8T>C Multiple submitters developmental and epileptic encephalopathy, 41
- p.Ile492= Multiple submitters
- p.Leu234= Multiple submitters
- p.Pro201= Multiple submitters developmental and epileptic encephalopathy, 41
- p.Thr455= Multiple submitters
- p.Val407= Multiple submitters developmental and epileptic encephalopathy, 41
- c.1091+4G>C Single submitter
- c.1421+13G>C Single submitter
- c.157+20del Single submitter
- c.158-11dup Single submitter
- c.17+14del Single submitter
- c.18-5T>C Single submitter
- c.561+6C>G Single submitter
- p.Ala207Thr Single submitter
- p.Ala255Thr Single submitter
- p.Ala406Val Single submitter
- p.Ala58Thr Single submitter
- p.Ala67Thr Single submitter
- p.Ala7Val Single submitter
- p.Asn206Ser Single submitter
- p.Asn528Ser Single submitter
- p.Asp83His Single submitter
- p.Gln262= Single submitter
- p.Gly260Arg Single submitter ⚠
- p.Gly380= Single submitter
- p.Gly393= Single submitter
- p.Gly6Asp Single submitter
- p.Gly6Val Single submitter
- p.His22Pro Single submitter
- p.His327= Single submitter
- p.His511Gln Single submitter
- p.Ile130Val Single submitter
- p.Ile282Val Single submitter
- p.Ile522Val Single submitter
- p.Leu134Met Single submitter
- p.Lys498Thr Single submitter ⚠
- p.Met125Leu Single submitter
- p.Met228Thr Single submitter
- p.Met317Thr Single submitter ⚠
- p.Met477Ile Single submitter
- p.Phe52Ser Single submitter
- p.Thr371= Single submitter
- p.Thr4= Single submitter
- p.Thr50= Single submitter
- p.Thr50Met Single submitter
- p.Val195Asp Single submitter ⚠
- p.Val74Ala Single submitter
Benign/Likely benign 17
- c.1092-6T>C Multiple submitters
- c.562-15C>T Multiple submitters developmental and epileptic encephalopathy, 41
- c.858-15T>G Multiple submitters
- p.Ala406= Multiple submitters Inborn genetic diseases
- p.Ala439= Multiple submitters
- p.Ala456= Multiple submitters
- p.Glu217Lys Multiple submitters Inborn genetic diseases
- p.Glu566= Multiple submitters
- p.Gly438= Multiple submitters
- p.Leu451= Multiple submitters
- p.Lys148= Multiple submitters
- p.Lys194Glu Multiple submitters
- p.Lys237= Multiple submitters
- p.Pro155Ser Multiple submitters Inborn genetic diseases
- p.Ser126= Multiple submitters
- p.Val437Ile Multiple submitters
- p.Val565Ala Multiple submitters
Likely benign 220
- c.1091+14G>T Multiple submitters
- c.1286+12G>A Multiple submitters
- c.1421+18G>T Multiple submitters
- c.1422-6C>G Multiple submitters
- c.157+8C>T Multiple submitters
- c.310+9A>G Multiple submitters
- c.562-9C>T Multiple submitters
- c.730+10C>G Multiple submitters
- c.730+19C>T Multiple submitters
- c.-4del Multiple submitters
- p.Ala365= Multiple submitters
- p.Ala408= Multiple submitters
- p.Ala445= Multiple submitters
- p.Ala541Gly Multiple submitters Inborn genetic diseases
- p.Ala561= Multiple submitters
- p.Ala79= Multiple submitters
- p.Ala79Gly Multiple submitters
- p.Arg384His Multiple submitters Inborn genetic diseases
- p.Asn216Ser Multiple submitters Inborn genetic diseases
- p.Cys537Ser Multiple submitters Inborn genetic diseases
- p.Gly135= Multiple submitters
- p.Gly53= Multiple submitters
- p.Ile546= Multiple submitters
- p.Phe388= Multiple submitters
- p.Pro200= Multiple submitters
- p.Pro223= Multiple submitters
- p.Ser487= Multiple submitters
- p.Thr361= Multiple submitters
- p.Tyr539Cys Multiple submitters Inborn genetic diseases
- p.Val545Asp Multiple submitters Inborn genetic diseases
- c.1091+17A>G Single submitter
- c.1091+7A>G Single submitter
- c.1092-12_1092-11del Single submitter
- c.1092-12C>T Single submitter
- c.1092-16_1092-13del Single submitter
- c.1092-18C>T Single submitter
- c.1092-8G>A Single submitter
- c.1286+13G>A Single submitter
- c.1286+13G>T Single submitter
- c.1286+17A>G Single submitter
- c.1287-10G>A Single submitter
- c.1287-12C>G Single submitter
- c.1287-19A>C Single submitter
- c.1421+20G>A Single submitter
- c.157+13A>C Single submitter
- c.157+18C>A Single submitter
- c.157+18C>G Single submitter
- c.157+19C>G Single submitter
- c.157+20C>T Single submitter
- c.157+3A>T Single submitter
- c.157+5del Single submitter
- c.157+9_157+14del Single submitter
- c.157+9C>A Single submitter
- c.157+9C>T Single submitter
- c.158-12C>T Single submitter
- c.158-18T>C Single submitter
- c.158-20T>G Single submitter
- c.158-4T>C Single submitter
- c.158-6T>C Single submitter
- c.1653+16A>G Single submitter
- c.1653+24C>T Single submitter
- c.1653+9C>T Single submitter
- c.1654-18G>A Single submitter
- c.17+14T>C Single submitter
- c.17+17C>A Single submitter
- c.17+20T>A Single submitter
- c.17+38535del Single submitter
- c.17+38553G>A Single submitter
- c.18-14C>T Single submitter
- c.18-18C>T Single submitter
- c.18-5134C>A Single submitter
- c.18-9C>T Single submitter
- c.310+16del Single submitter
- c.310+2T>C Single submitter
- c.311-14T>A Single submitter
- c.311-5T>C Single submitter
- c.561+11G>A Single submitter
- c.561+13T>C Single submitter
- c.561+14C>T Single submitter
- c.561+15A>G Single submitter
- c.561+16G>C Single submitter
- c.561+8A>G Single submitter
- c.562-10A>T Single submitter
- c.562-11C>G Single submitter
- c.562-16T>C Single submitter
- c.562-7C>T Single submitter
- c.730+11T>A Single submitter
- c.730+15G>C Single submitter
- c.730+17T>C Single submitter
- c.730+20G>A Single submitter
- c.857+12T>C Single submitter
- c.858-11G>T Single submitter
- c.858-12T>C Single submitter
- c.858-18C>T Single submitter
- p.Ala120= Single submitter
- p.Ala310Thr Single submitter ⚠
- p.Ala354= Single submitter
- p.Ala358Thr Single submitter
- p.Ala394= Single submitter
- p.Ala413= Single submitter
- p.Ala435= Single submitter
- p.Ala439Val Single submitter
- p.Arg115Cys Single submitter
- p.Arg17Gln Single submitter
- p.Arg31= Single submitter
- p.Arg311= Single submitter
- p.Arg31Trp Single submitter ⚠
- p.Arg373His Single submitter
- p.Arg387= Single submitter
- p.Arg572= Single submitter
- p.Arg572Cys Single submitter
- p.Arg87= Single submitter
- p.Asn179= Single submitter
- p.Asn206= Single submitter
- p.Asn216= Single submitter
- p.Asn241= Single submitter
- p.Asn482= Single submitter
- p.Asn533= Single submitter
- p.Asn557= Single submitter
- p.Asn557Ser Single submitter
- p.Asn9= Single submitter
- p.Asp202= Single submitter
- p.Asp238= Single submitter
- p.Asp268Asn Single submitter
- p.Asp399= Single submitter
- p.Asp486= Single submitter
- p.Asp513Gly Single submitter
- p.Asp524= Single submitter
- p.Cys537Tyr Single submitter
- p.Gln189= Single submitter
- p.Gln520= Single submitter
- p.Gln536= Single submitter
- p.Glu204= Single submitter
- p.Glu221Lys Single submitter
- p.Glu224= Single submitter
- p.Glu225= Single submitter
- p.Glu567= Single submitter
- p.Glu573= Single submitter
- p.Gly104= Single submitter
- p.Gly117= Single submitter
- p.Gly24= Single submitter
- p.Gly247= Single submitter
- p.Gly458Asp Single submitter ⚠
- p.Gly491= Single submitter
- p.Gly62= Single submitter
- p.His19= Single submitter
- p.His22= Single submitter
- p.Ile130Asn Single submitter
- p.Ile254= Single submitter
- p.Ile272= Single submitter
- p.Ile282= Single submitter
- p.Ile292= Single submitter
- p.Ile300= Single submitter
- p.Ile303= Single submitter
- p.Ile326= Single submitter
- p.Ile453= Single submitter
- p.Leu105= Single submitter
- p.Leu138= Single submitter
- p.Leu196= Single submitter
- p.Leu214Pro Single submitter Inborn genetic diseases
- p.Leu215= Single submitter
- p.Leu280= Single submitter
- p.Leu295= Single submitter
- p.Leu375= Single submitter
- p.Leu379= Single submitter
- p.Leu434= Single submitter
- p.Leu447= Single submitter
- p.Leu466= Single submitter
- p.Leu89= Single submitter
- p.Leu92= Single submitter
- p.Leu94= Single submitter
- p.Lys12= Single submitter
- p.Lys150= Single submitter
- p.Lys151= Single submitter
- p.Lys498Arg Single submitter developmental and epileptic encephalopathy, 41
- p.Met1Arg Single submitter
- p.Met1Thr Single submitter
- p.Met317Val Single submitter
- p.Phe185Cys Single submitter
- p.Phe249Leu Single submitter ⚠
- p.Phe347= Single submitter
- p.Pro144= Single submitter
- p.Pro199= Single submitter
- p.Pro289= Single submitter
- p.Pro344= Single submitter
- p.Pro369= Single submitter
- p.Pro569= Single submitter
- p.Pro569Ser Single submitter
- p.Ser209= Single submitter
- p.Ser21= Single submitter
- p.Ser288Cys Single submitter
- p.Ser429= Single submitter Inborn genetic diseases
- p.Ser436= Single submitter
- p.Ser465= Single submitter
- p.Ser480= Single submitter
- p.Ser560= Single submitter
- p.Thr127= Single submitter
- p.Thr192= Single submitter
- p.Thr218= Single submitter
- p.Thr367= Single submitter
- p.Thr401= Single submitter
- p.Thr427= Single submitter
- p.Thr433= Single submitter
- p.Thr461Ala Single submitter
- p.Thr48= Single submitter
- p.Thr503= Single submitter
- p.Thr553= Single submitter
- p.Tyr494= Single submitter
- p.Tyr523= Single submitter
- p.Val212= Single submitter
- p.Val277Ala Single submitter ⚠
- p.Val320= Single submitter
- p.Val419= Single submitter
- p.Val419Ile Single submitter Inborn genetic diseases
- p.Val437= Single submitter
- p.Val437Ala Single submitter
- p.Val545Ala Single submitter
- p.Val552= Single submitter
- c.1422-10_1422-9insCC No assertion criteria SLC1A2-related disorder
- c.1422-3C>T No assertion criteria SLC1A2-related disorder
Uncertain significance 219
- c.562-2A>G Multiple submitters
- p.Ala210Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala293Thr Multiple submitters developmental and epileptic encephalopathy, 41 ⚠
- p.Ala349Thr Multiple submitters ⚠
- p.Ala349Val Multiple submitters developmental and epileptic encephalopathy, 41 ⚠
- p.Ala362Thr Multiple submitters ⚠
- p.Ala394Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala409Thr Multiple submitters developmental and epileptic encephalopathy, 41 ⚠
- p.Arg311Met Multiple submitters
- p.Arg341Gly Multiple submitters Inborn genetic diseases
- p.Asn8Asp Multiple submitters Inborn genetic diseases ⚠
- p.Asp170Asn Multiple submitters ⚠
- p.Asp20Asn Multiple submitters ⚠
- p.Asp73His Multiple submitters ⚠
- p.Glu203Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly107Asp Multiple submitters SLC1A2-related disorder ⚠
- p.Gly323Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly400Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ile130Thr Multiple submitters developmental and epileptic encephalopathy, 41 ⚠
- p.Ile254Phe Multiple submitters ⚠
- p.Ile504Leu Multiple submitters ⚠
- p.Ile504Thr Multiple submitters ⚠
- p.Ile514Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu23Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu451Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu49Val Multiple submitters ⚠
- p.Lys157Glu Multiple submitters developmental and epileptic encephalopathy, 41 ⚠
- p.Met259Thr Multiple submitters Inborn genetic diseases ⚠
- p.Phe185Leu Multiple submitters developmental and epileptic encephalopathy, 41 ⚠
- p.Pro369Ala Multiple submitters ⚠
- p.Ser209Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser209Asn Multiple submitters developmental and epileptic encephalopathy, 41 ⚠
- p.Thr118Met Multiple submitters developmental and epileptic encephalopathy, 41 ⚠
- p.Thr517Ala Multiple submitters ⚠
- p.Trp570Ser Multiple submitters ⚠
- p.Tyr494Cys Multiple submitters ⚠
- p.Tyr494His Multiple submitters Inborn genetic diseases ⚠
- p.Val122Leu Multiple submitters ⚠
- p.Val538Ile Multiple submitters ⚠
- p.Val547Ile Multiple submitters developmental and epileptic encephalopathy, 41 ⚠
- c.1091+6G>C Single submitter
- c.1287-3T>C Single submitter
- c.1653+5A>G Single submitter
- c.18-2A>C Single submitter
- c.310+1061T>G Single submitter
- c.311-2A>G Single submitter
- c.561+4del Single submitter
- c.562-9_566del Single submitter
- c.730+3A>G Single submitter
- c.731-9_731-8delinsGC Single submitter
- p.Ala110Ser Single submitter Inborn genetic diseases ⚠
- p.Ala110Thr Single submitter ⚠
- p.Ala132Ser Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Ala167Gly Single submitter ⚠
- p.Ala183Thr Single submitter ⚠
- p.Ala205Thr Single submitter ⚠
- p.Ala365Ser Single submitter ⚠
- p.Ala394Glu Single submitter ⚠
- p.Ala408Val Single submitter ⚠
- p.Ala409Ser Single submitter ⚠
- p.Ala432Asp Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Ala439Thr Single submitter ⚠
- p.Ala469Thr Single submitter ⚠
- p.Ala490Thr Single submitter ⚠
- p.Ala79Asp Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Ala79Thr Single submitter ⚠
- p.Arg119Lys Single submitter ⚠
- p.Arg173Gln Single submitter ⚠
- p.Arg36_Leu37del Single submitter
- p.Arg36Cys Single submitter ⚠
- p.Arg373Cys Single submitter ⚠
- p.Arg387Gly Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Arg509Gln Single submitter ⚠
- p.Arg530Gly Single submitter ⚠
- p.Arg87Lys Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Asn146Ser Single submitter ⚠
- p.Asn159Ser Single submitter ⚠
- p.Asn179Ser Single submitter ⚠
- p.Asn206Asp Single submitter ⚠
- p.Asn206Lys Single submitter ⚠
- p.Asn378Tyr Single submitter ⚠
- p.Asp160Val Single submitter ⚠
- p.Asp170Tyr Single submitter ⚠
- p.Asp421Gly Single submitter
- p.Asp421Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp502Glu Single submitter ⚠
- p.Asp502Gly Single submitter ⚠
- p.Asp505Tyr Single submitter ⚠
- p.Asp525Ala Single submitter ⚠
- p.Asp548= Single submitter
- p.Asp548Val Single submitter ⚠
- p.Cys184Trp Single submitter Inborn genetic diseases ⚠
- p.Cys374Phe Single submitter ⚠
- p.Cys550Arg Single submitter ⚠
- p.Gln152His Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Gln189Arg Single submitter Inborn genetic diseases ⚠
- p.Gln507Glu Single submitter ⚠
- p.Gln507Lys Single submitter ⚠
- p.Glu203Asp Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Glu221Ala Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Glu235Ala Single submitter ⚠
- p.Glu275Asp Single submitter ⚠
- p.Glu376Gln Single submitter ⚠
- p.Glu515Lys Single submitter ⚠
- p.Glu566Gly Single submitter ⚠
- p.Glu567Lys Single submitter ⚠
- p.Glu568Ter Single submitter
- p.Gly117Ser Single submitter ⚠
- p.Gly244Arg Single submitter ⚠
- p.Gly253Val Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Gly314Val Single submitter ⚠
- p.Gly328Arg Single submitter Inborn genetic diseases ⚠
- p.Gly329Ala Single submitter ⚠
- p.Gly329Val Single submitter ⚠
- p.Gly34Val Single submitter ⚠
- p.Gly360Ala Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Gly380Arg Single submitter Inborn genetic diseases ⚠
- p.Gly393Glu Single submitter ⚠
- p.Gly422Ala Single submitter ⚠
- p.Gly422Glu Single submitter ⚠
- p.Gly438Ser Single submitter ⚠
- p.Gly446Arg Single submitter ⚠
- p.Gly458Glu Single submitter
- p.His32Asp Single submitter ⚠
- p.His495Tyr Single submitter ⚠
- p.His508Arg Single submitter ⚠
- p.His529Asp Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.His529Gln Single submitter ⚠
- p.His542Gln Single submitter ⚠
- p.His71Tyr Single submitter ⚠
- p.Ile102Val Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Ile129Val Single submitter ⚠
- p.Ile188Thr Single submitter ⚠
- p.Ile230Ser Single submitter ⚠
- p.Ile284Val Single submitter ⚠
- p.Ile296Met Single submitter ⚠
- p.Ile303Val Single submitter ⚠
- p.Ile321Val Single submitter ⚠
- p.Ile322Thr Single submitter ⚠
- p.Ile335Val Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Ile351Ser Single submitter ⚠
- p.Ile410Val Single submitter Inborn genetic diseases ⚠
- p.Ile464Val Single submitter ⚠
- p.Ile504Val Single submitter ⚠
- p.Ile514Met Single submitter ⚠
- p.Ile514Val Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Ile522Thr Single submitter ⚠
- p.Ile55Phe Single submitter ⚠
- p.Ile70Val Single submitter ⚠
- p.Ile84Arg Single submitter ⚠
- p.Leu390Ile Single submitter ⚠
- p.Leu420Met Single submitter
- p.Leu430Val Single submitter Inborn genetic diseases ⚠
- p.Leu47Val Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Lys111fs Single submitter
- p.Lys12Glu Single submitter ⚠
- p.Lys227Thr Single submitter ⚠
- p.Lys559Gln Single submitter ⚠
- p.Met10Arg Single submitter ⚠
- p.Met228Leu Single submitter ⚠
- p.Met256Val Single submitter ⚠
- p.Met283Val Single submitter ⚠
- p.Met317Ile Single submitter SLC1A2-related disorder ⚠
- p.Met76Ile Single submitter ⚠
- p.Met86Lys Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Met88fs Single submitter
- p.Met88Leu Single submitter Inborn genetic diseases
- p.Phe337Cys Single submitter Inborn genetic diseases ⚠
- p.Phe345fs Single submitter
- p.Phe372Ser Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Phe411Val Single submitter ⚠
- p.Phe80Leu Single submitter ⚠
- p.Pro11Leu Single submitter ⚠
- p.Pro155Thr Single submitter ⚠
- p.Pro177_Val181del Single submitter
- p.Pro199Gln Single submitter Inborn genetic diseases ⚠
- p.Pro200Leu Single submitter ⚠
- p.Pro223Leu Single submitter ⚠
- p.Pro460Thr Single submitter ⚠
- p.Pro72Ser Single submitter ⚠
- p.Ser164Thr Single submitter ⚠
- p.Ser3fs Single submitter
- p.Ser441Gly Single submitter ⚠
- p.Ser480Ala Single submitter ⚠
- p.Ser499Tyr Single submitter ⚠
- p.Ser534Pro Single submitter ⚠
- p.Ser534Tyr Single submitter developmental and epileptic encephalopathy, 41 ⚠
- p.Ser544Phe Single submitter ⚠
- p.Ser560Pro Single submitter ⚠
- p.Ter575Leu Single submitter
- p.Thr128Ile Single submitter Inborn genetic diseases ⚠
- p.Thr208Ile Single submitter ⚠
- p.Thr371Ala Single submitter ⚠
- p.Thr386Ile Single submitter ⚠
- p.Thr427Ile Single submitter ⚠
- p.Thr433Ile Single submitter Inborn genetic diseases ⚠
- p.Thr48Pro Single submitter ⚠
- p.Thr4Ser Single submitter ⚠
- p.Thr503Ala Single submitter ⚠
- p.Thr517Ser Single submitter ⚠
- p.Tyr124Ter Single submitter developmental and epileptic encephalopathy, 41
- p.Tyr287Ter Single submitter
- p.Val136Ile Single submitter ⚠
- p.Val191Met Single submitter ⚠
- p.Val195Phe Single submitter ⚠
- p.Val197Phe Single submitter ⚠
- p.Val242Ile Single submitter ⚠
- p.Val309Ile Single submitter ⚠
- p.Val338Glu Single submitter ⚠
- p.Val385fs Single submitter developmental and epileptic encephalopathy, 41
- p.Val389Ala Single submitter ⚠
- p.Val389Ile Single submitter ⚠
- p.Val392Ala Single submitter ⚠
- p.Val418Gly Single submitter ⚠
- p.Val419Ala Single submitter ⚠
- p.Val547Ala Single submitter ⚠
- p.Val54Ile Single submitter Inborn genetic diseases ⚠
- p.Val565Ile Single submitter ⚠
- p.Val74Glu Single submitter ⚠